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42 Neurodevelopmental Disorders Language Disorder Diagnostic Criteria 315.32 (F80.2) A. Persistent difficulties in the acquisition and use of language across modalities (i.e., spoken, written, sign language, or other) due to deficits in comprehension or produc- tion that include the following: 1. Reduced vocabulary (word knowledge and use). 2. Limited sentence structure (ability to put words and word endings together to form sentences based on the rules of grammar and morphology). 3. Impairments in discourse (ability to use vocabulary and connect sentences to ex- plain or describe a topic or series of events or have a conversation). B. Language abilities are substantially and quantifiably below those expected for age, re- sulting in functional limitations in effective communication, social participation, aca- demic achievement, or occupational performance, individually or in any combination. C. Onset of symptoms is in the early developmental period. D. The difficulties are not attributable to hearing or other sensory impairment, motor dys- function, or another medical or neurological condition and are not better explained by in- tellectual disability (intellectual developmental disorder) or global developmental delay. Diagnostic Features The core diagnostic features of language disorder are difficulties in the acquisition and use of language due to deficits in the comprehe nsion or production of vocabulary, sentence structure, and discourse. The language defi cits are evident in spoken communication, written communication, or sign language. La nguage learning and use is dependent on both receptive and expressive skills. Expressive ability refers to the production of vocal, ges- tural, or verbal signals, while receptive ability refers to the process of receiving and com- prehending language messages. Language skills need to be assessed in both expressive
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prehending language messages. Language skills need to be assessed in both expressive and receptive modalities as these may differ in severity. For example, an individual’s ex- pressive language may be seve rely impaired, while his recept ive language is hardly im- paired at all. Language disorder usually affects vocabulary and grammar, and these effects then limit the capacity for discourse. The child’s fi rst words and phrases are likely to be delayed in onset; vocabulary size is smaller and less varied than expected; and sentences are shorter and less complex with grammatical errors , especially in past tense. Deficits in com- prehension of language are fr equently underestimated, as children may be good at using context to infer meaning. There may be word-finding problems, impoverished verbal def- initions, or poor understand ing of synonyms, multiple meanings, or word play appro- priate for age and culture. Problems with remembering new words and sentences are manifested by difficulties following instructions of increasing length, difficulties rehears- ing strings of verbal information (e.g., remembering a phone number or a shopping list), and difficulties remembering novel sound se quences, a skill that may be important for learning new words. Difficulties with discour se are shown by a reduced ability to provide adequate information abou t the key events and to narrate a coherent story. The language difficulty is manifest by abilities substantially and quantifiably below that expected for age and significantly inte rfering with academic achievement, occupa- tional performance, effective communication, or socialization (Criterion B). A diagnosis of language disorder is made based on the synthesis of the individual’s history, direct clinical observation in different contexts (i.e., home, school, or work), and scores from standard- ized tests of language ability that can be used to guide estimates of severity.
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Language Disorder 43 Associated Features Supporting Diagnosis A positive family history of language disorders is often present. Individuals, even chil- dren, can be adept at accommodating to their limited language. They may appear to be shy or reticent to talk. Affected individuals may prefer to communicate only with family mem- bers or other familiar individuals. Although these social indicators are not diagnostic of a language disorder, if they are notable and pers istent, they warrant referral for a full lan- guage assessment. Language d isorder, particularly expressiv e deficits, may co-occur with speech sound disorder. Development and Course Language acquisition is marked by changes from onset in toddlerhood to the adult level of competency that appears during adolescence. Changes appear across the dimensions of language (sounds, words, grammar, narrati ves/expository texts, and conversational skills) in age-graded increments and synchron ies. Language disorder emerges during the early developmental period; however, there is considerable variation in early vocabulary acquisition and early word combinations, an d individual differenc es are not, as single indicators, highly predictive of later outcomes. By age 4 years, individual differences in language ability are more stable, with bette r measurement accuracy, and are highly pre- dictive of later outcomes. Language disorder diagnosed from 4 years of age is likely to be stable over time and typically persists into adulthood, although the particular profile of language strengths and deficits is likely to change over the course of development. Risk and Prognostic Factors Children with receptive language impairment s have a poorer prognosis than those with predominantly expressive impairments. They are more resistant to treatment, and diffi- culties with reading comprehe nsion are frequently seen. Genetic and physiological. Language disorders are highly heritable, and family mem-
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Genetic and physiological. Language disorders are highly heritable, and family mem- bers are more likely to have a history of language impairment. Differential Diagnosis Normal variations in language. Language disorder needs to be distinguished from nor- mal developmental variations, and this distinctio n may be difficult to make before 4 years of age. Regional, social, or cultural/ethnic va riations of language (e.g., dialects) must be considered when an individual is being assessed for language impairment. Hearing or other sensory impairment. Hearing impairment needs to be excluded as the primary cause of language difficulties. Langua ge deficits may be associated with a hearing impairment, other sensory deficit, or a speech-motor deficit. When language deficits are in excess of those usually associ ated with these problems, a di agnosis of language disorder may be made. Intellectual disability (intell ectual developmental disorder). Language delay is often the presenting feature of intellect ual disability, and the definitive diagnosis may not be made until the child is able to complete standard ized assessments. A separate diagnosis is not given unless the language deficits are clearl y in excess of the intellectual limitations. Neurological disorders. Language disorder can be acquired in association with neuro- logical disorders, including epilepsy (e.g., ac quired aphasia or Landau-Kleffner syndrome). Language regression. Loss of speech and language in a child younger than 3 years may be a sign of autism spectrum disorder (with developmental regression) or a specific neuro- logical condition, such as Landau-Kleffner syndrome. Among children older than 3 years, language loss may be a symptom of seizures, and a diagnostic assessment is necessary to exclude the presence of epilepsy (e.g., routine and sleep electroencephalogram).
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44 Neurodevelopmental Disorders Comorbidity Language disorder is strongly associated with other neurodevelopmental disorders in terms of specific learning d isorder (literacy and numeracy), attention-deficit/hyperactiv- ity disorder, autism spectrum disorder, and developmental coordination disorder. It is also associated with social (pragmatic) commu nication disorder. A positive family history of speech or language disorders is often present. Speech Sound Disorder Diagnostic Criteria 315.39 (F80.0) A. Persistent difficulty with speech sound production that interferes with speech intelligi- bility or prevents verbal communication of messages. B. The disturbance causes limitations in effect ive communication that interfere with social participation, academic achievement, or occupational performance, individually or in any combination. C. Onset of symptoms is in the early developmental period. D. The difficulties are not attributable to congenital or acquired conditions, such as cere- bral palsy, cleft palate, deafness or hearing loss, traumatic brain injury, or other medi- cal or neurological conditions. Diagnostic Features Speech sound production descri bes the clear articulation of the phonemes (i.e., individual sounds) that in combination make up spoken words. Speech sound production requires both the phonological knowledge of speech sounds and the ability to coordinate the movements of the articulators (i.e., the jaw, tongue, and lips ,) with breathing and vocalizing for speech. Chil- dren with speech production difficulties may experience difficulty with phonological knowl- edge of speech sounds or the ability to coordi nate movements for speech in varying degrees. Speech sound disorder is thus heterogeneous in its underlying mechanisms and includes pho- nological disorder and articulation disorder . A speech sound disorder is diagnosed when
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nological disorder and articulation disorder . A speech sound disorder is diagnosed when speech sound production is not what would be expected based on the child’s age and devel- opmental stage and when the deficits are not the result of a physical, st ructural, neurological, or hearing impairment. Among typically develo ping children at age 4 years, overall speech should be intelligible, whereas at age 2 years, only 50% may be understandable. Associated Features Supporting Diagnosis Language disorder, particularly expressive de ficits, may be found to co-occur with speech sound disorder. A positive family history of speech or language disorders is often present. If the ability to rapidly coordinate the articu lators is a particular aspect of difficulty, there may be a history of delay or incoordinati on in acquiring skills that also utilize the articulators and related facial musculature; among others, these sk ills include chewing, maintaining mouth closure, and blowing the no se. Other areas of motor coordination may be impaired as in developm ental coordination disorder. Verbal dyspraxia is a term also used for speech prod uction problems. Speech may be differentially impaired in ce rtain genetic conditions (e.g., Down syn- drome, 22q deletion, FoxP2 gene mutation). If present, these should also be coded. Development and Course Learning to produce speech sounds clearly and accurately and learning to produce con- nected speech fluently are developmental skills. Articulation of speech sounds follows a
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Childhood-Onset Fluency Disorder (Stuttering) 45 developmental pattern, which is reflected in the age norms of standardized tests. It is not unusual for typically developing children to use developmental processes for shortening words and syllables as they are learning to talk, but their progression in mastering speech sound production should result in mostly in telligible speech by age 3 years. Children with speech sound disorder continue to use immature phonological simplification processes past the age when most children can produce words clearly. Most speech sounds should be produced cl early and most words should be pronounced accurately according to age an d community norms by age 7 years. The most frequently mis- articulated sounds also tend to be learned later, leading them to be called the “late eight” ( l, r, s, z, th, ch, dzh, and zh). Misarticulation of an y of these sounds by it self could be considered within normal limits up to age 8 years. When multiple sounds are involved, it may be appro- priate to target some of those sounds as part of a plan to improve intelligibility prior to the age at which almost all children can produce them a ccurately. Lisping (i.e., misarticulating sibi- lants) is particularly common and may involve fr ontal or lateral patterns of airstream direc- tion. It may be associated with an ab normal tongue-thrust swallowing pattern. Most children with speech sound disorder re spond well to treatment, and speech dif- ficulties improve over time, and thus the diso rder may not be lifelong. However, when a language disorder is also present, the spee ch disorder has a poorer prognosis and may be associated with specific learning disorders. Differential Diagnosis
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associated with specific learning disorders. Differential Diagnosis Normal variations in speech. Regional, social, or cultural/ethnic variations of speech should be considered before making the diagnosis. Hearing or other sensory impairment. Hearing impairment or deafness may result in abnormalities of speech. Defici ts of speech sound production may be associated with a hearing impairment, other sensory deficit, or a speech-mo tor deficit. When speech deficits are in excess of those usually associated with these problems, a diagnosis of speech sound disorder may be made. Structural deficits. Speech impairment may be due to stru ctural deficits (e.g., cleft palate). Dysarthria. Speech impairment may be attributable to a motor disorder, such as cerebral palsy. Neurological signs, as well as distinct ive features of voice, differentiate dysarthria from speech sound disorder, although in young children (under 3 years) differentiation may be difficult, particularly when there is no or minima l general body motor involve- ment (as in, e.g., Worster-Drought syndrome). Selective mutism. Limited use of speech may be a sign of selective mutism, an anxiety disorder that is characterized by a lack of sp eech in one or more contexts or settings. Se- lective mutism may develop in children with a speech disorder because of embarassment about their impairments, but many children with selective mutism exhibit normal speech in “safe” settings, such as at home or with close friends. Childhood-Onset Fluency Disorder (Stuttering) Diagnostic Criteria 315.35 (F80.81) A. Disturbances in the normal fluency and time patterning of speech that are inappropri- ate for the individual’s age and language skills, persist over time, and are characterized
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ate for the individual’s age and language skills, persist over time, and are characterized by frequent and marked occurrences of one (or more) of the following:  1. Sound and syllable repetitions. 2. Sound prolongations of consonants as well as vowels.
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46 Neurodevelopmental Disorders 3. Broken words (e.g., pauses within a word). 4. Audible or silent blocking (filled or unfilled pauses in speech). 5. Circumlocutions (word substitutions to avoid problematic words). 6. Words produced with an excess of physical tension. 7. Monosyllabic whole-word repetitions (e.g., “I-I-I-I see him”). B. The disturbance causes anxiety about speaking or limitations in effective communica- tion, social participation, or academic or occupational performance, individually or in any combination. C. The onset of symptoms is in the early developmental period. ( Note: Later-onset cases are diagnosed as 307.0 [F98.5] adult-onset fluency disorder.) D. The disturbance is not attributable to a s peech-motor or sensory deficit, dysfluency as- sociated with neurological insult (e.g., stroke, tumor, trauma), or another medical con- dition and is not better explained by another mental disorder. Diagnostic Features The essential feature of childho od-onset fluency disorder (stu ttering) is a disturbance in the normal fluency and time patterning of spee ch that is inappropriate for the individual’s age. This disturbance is characterized by freq uent repetitions or prolongations of sounds or syllables and by other types of speech dysfluencies, including broken words (e.g., pauses within a word), audible or silent blocki ng (i.e., filled or unfilled pauses in speech), circumlocutions (i.e., word su bstitutions to avoid proble matic words), words produced with an excess of physical tension, and mono syllabic whole-word repetitions (e.g., “I-I-I-I see him”). The disturbance in fluency interferes with academic or occupational achieve-
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see him”). The disturbance in fluency interferes with academic or occupational achieve- ment or with social communication. The extent of the disturbance varies from situation to situation and often is more severe when there is special pressure to communicate (e.g., giv- ing a report at school, interviewing for a job) . Dysfluency is often absent during oral read- ing, singing, or talking to inanimate objects or to pets. Associated Features Supporting Diagnosis Fearful anticipation of the problem may develop. The speaker may attempt to avoid dys- fluencies by linguistic mechanisms (e.g., al tering the rate of sp eech, avoiding certain words or sounds) or by avoiding certain speec h situations, such as telephoning or public speaking. In addition to being features of the condition, stress and anxiety have been shown to exacerbate dysfluency. Childhood-onset fluency diso rder may also be accompanied by motor movements (e.g., eye blinks, tics, tremors of the lips or face, jerking of the head, breathing movements, fist clenching). Children with fluency disorder show a range of language abilities, and the relationship between fluency disorder and language abilities is unclear. Development and Course Childhood-onset fluency disord er, or developmental stutteri ng, occurs by age 6 for 80%– 90% of affected individuals, with age at onset ranging from 2 to 7 years. The onset can be insidious or more sudden. Typically, dysfluencies start gradually, with repetition of initial consonants, first words of a phrase, or long words. The child may not be aware of dysflu- encies. As the disorder progresses, the dysfluencies become more frequent and interfering,
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encies. As the disorder progresses, the dysfluencies become more frequent and interfering, occurring on the most meaningful words or phr ases in the utterance. As the child becomes aware of the speech difficulty, he or she may develop mechanisms for avoiding the dys- fluencies and emotional responses, including avoidance of public speaking and use of short and simple utterances. Longitudinal research shows that 65%–85% of children re-
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Social (Pragmatic) Communication Disorder 47 cover from the dysfluency, with severity of fl uency disorder at age 8 years predicting re- covery or persistence into adolescence and beyond. Risk and Prognostic Factors Genetic and physiological. The risk of stuttering among first-degree biological rela- tives of individuals wi th childhood-onset fluency disorder is more than three times the risk in the general population. Functional Consequences of Childhood-Onset Fluency Disorder (Stuttering) In addition to being features of the condit ion, stress and anxiety can exacerbate dysflu- ency. Impairment of social function ing may result from this anxiety. Differential Diagnosis Sensory deficits. Dysfluencies of speech may be associated with a hearing impairment or other sensory deficit or a sp eech-motor deficit. When the speech dysfluencies are in ex- cess of those usually associated with these problems, a diagnosis of childhood-onset flu- ency disorder may be made. Normal speech dysfluencies. The disorder must be distinguished from normal dysflu- encies that occur frequently in young children, which include whole-word or phrase rep- etitions (e.g., “I want, I want ice cream”), incomplete phrases, in terjections, unfilled pauses, and parenthetical remarks. If these difficulties increase in frequency or complexity as the child grows older, a diagnosis of child hood-onset fluency diso rder is appropriate. Medication side effects. Stuttering may occur as a side effect of medication and may be detected by a temporal relationship with exposure to the medication. Adult-onset dysfluencies. If onset of dysfluencies is during or after adolescence, it is an
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“adult-onset dysfluency” rather than a neurodevelopmental disorder . Adult-onset dysflu- encies are associated with specific neurologic al insults and a variety of medical conditions and mental disorders and may be specified with them, but they are not a DSM-5 diagnosis. Tourette’s disorder. Vocal tics and repetitive vocalizations of Tourette’s disorder should be distinguishable from the repetitive sounds of childhood-onset fluency disorder by their nature and timing. Social (Pragmatic) Communication Disorder Diagnostic Criteria 315.39 (F80.89) A. Persistent difficulties in the social use of verbal and nonverbal communication as man- ifested by all of the following: 1. Deficits in using communication for social purposes, such as greeting and sharing information, in a manner that is appropriate for the social context. 2. Impairment of the ability to change communication to match context or the needs of the listener, such as speaking differently in a classroom than on a playground, talk- ing differently to a child than to an adul t, and avoiding use of overly formal language. 3. Difficulties following rules for conversation and storytelling, such as taking turns in conversation, rephrasing when misunderstoo d, and knowing how to use verbal and nonverbal signals to regulate interaction.
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48 Neurodevelopmental Disorders 4. Difficulties understanding what is not explicitly stated (e.g., making inferences) and nonliteral or ambiguous meanings of language (e.g., idioms, humor, metaphors, multiple meanings that depend on the context for interpretation). B. The deficits result in functional limitations in effective communication, social participa- tion, social relationships, academic achievement, or occupational performance, indi- vidually or in combination. C. The onset of the symptoms is in the ear ly developmental period (but deficits may not become fully manifest until social communication demands exceed limited capacities). D. The symptoms are not attributable to another medical or neurological condition or to low abilities in the domains of word structure and grammar, and are not better explained by autism spectrum disorder, intellectual dis ability (intellectual developmental disorder), global developmental delay, or another mental disorder. Diagnostic Features Social (pragmatic) communication disorder is characterized by a primary difficulty with pragmatics, or the social use of language an d communication, as manifested by deficits in understanding and following social rules of verbal and nonverbal communication in nat- uralistic contexts, changing language accordin g to the needs of the listener or situation, and following rules for conversations and stor ytelling. The deficits in social communica- tion result in functional limitations in effective communicatio n, social participation, devel- opment of social relationships, academic ac hievement, or occupational performance. The deficits are not better explaine d by low abilities in the domains of structural language or cognitive ability. Associated Features Supporting Diagnosis The most common associated feat ure of social (pragmatic) co mmunication disorder is lan- guage impairment, which is characterized by a history of delay in reaching language mile-
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guage impairment, which is characterized by a history of delay in reaching language mile- stones, and historical, if not current, structur al language problems (see “Language Disorder” earlier in this chapter). Individuals with social communication deficits may avoid social inter- actions. Attention-deficit/hype ractivity disorder (ADHD), beha vioral problems, and specific learning disorders are also more common among affected individuals. Development and Course Because social (pragmatic) co mmunication depends on adeq uate developmental progress in speech and language, diagnosis of social (pragmatic) communication disorder is rare among children younger than 4 years. By ag e 4 or 5 years, most children should possess adequate speech and language abilities to permit identification of specific deficits in social communication. Milder forms of the disorder may not become apparent until early ado- lescence, when language and social interactions become more complex. The outcome of social (pragmatic) communicat ion disorder is variable, with some chil- dren improving substantially over time and othe rs continuing to have difficulties persist- ing into adulthood. Even am ong those who have significant improvements, the early deficits in pragmatics may cause lasting impa irments in social relationships and behavior and also in acquisition of other rela ted skills, such as written expression. Risk and Prognostic Factors Genetic and physiological. A family history of autism spectrum disorder, communica- tion disorders, or specific learning disorder appears to increase the risk for social (prag- matic) communication disorder.
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Unspecified Communication Disorder 49 Differential Diagnosis Autism spectrum disorder. Autism spectrum disorder is the primary diagnostic con- sideration for individuals presenting with social communication de ficits. The two disor- ders can be differentiated by the presence in autism spectrum disorder of restricted/ repetitive patterns of behavior , interests, or activities and their absence in social (prag- matic) communication disorder. Individuals wi th autism spectrum disorder may only dis- play the restricted/repetitive patterns of behavi or, interests, and activities during the early developmental period, so a co mprehensive history should be obtained. Current absence of symptoms would not preclude a diagnosis of autism spectrum disorder, if the restricted interests and repetitive behaviors were present in the past. A diagnosis of social (prag- matic) communication disorder should be considered only if the developmental history fails to reveal any evidence of restricted/repetitive patterns of behavior, interests, or ac- tivities. Attention-deficit/hyperactivity disorder. Primary deficits of AD HD may cause impair- ments in social communication and functional limitations of effectiv e communication, so- cial participation, or academic achievement. Social anxiety disorder (social phobia). The symptoms of social communication disor- der overlap with those of social anxiety diso rder. The differentiating feature is the timing of the onset of symptoms. In social (pragm atic) communication di sorder, the individual has never had effective social communication; in social anxiety disorder, the social com- munication skills developed appr opriately but are not utilized because of anxiety, fear, or distress about social interactions. Intellectual disability (intellectual developm ental disorder) and global developmental delay. Social communication skills may be deficient among individuals with global de-
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delay. Social communication skills may be deficient among individuals with global de- velopmental delay or in tellectual disability, but a separa te diagnosis is not given unless the social communication deficits are clearl y in excess of the intellectual limitations. Unspecified Communication Disorder 307.9 (F80.9) This category applies to presentations in which symptoms characteristic of communication disorder that cause clinically significant distress or impairment in social, occupational, or other important areas of func tioning predominate but do not meet the full criteria for com- munication disorder or for any of the disorders in the neurodevelopmental disorders diag- nostic class. The unspecified communication disorder category is used in situations in which the clinician chooses not to specify the reason that the criteria are not met for com- munication disorder or for a specific neurodevelopmental disorder, and includes presen- tations in which there is insufficient information to make a more specific diagnosis.
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50 Neurodevelopmental Disorders Autism Spectrum Disorder Autism Spectrum Disorder Diagnostic Criteria 299.00 (F84.0) A. Persistent deficits in social communication and social interaction across multiple con- texts, as manifested by the following, currently or by history (examples are illustrative, not exhaustive; see text): 1. Deficits in social-emotional reciprocit y, ranging, for example, from abnormal social approach and failure of normal back-and-fort h conversation; to reduced sharing of interests, emotions, or affect; to failure to initiate or respond to social interactions. 2. Deficits in nonverbal communicative behavi ors used for social interaction, ranging, for example, from poorly integrated ver bal and nonverbal communication; to abnor- malities in eye contact and body language or deficits in understanding and use of gestures; to a total lack of facial expressions and nonverbal communication. 3. Deficits in developing, maintaining, and understanding relationships, ranging, for ex- ample, from difficulties adjusting behavior to suit various social contexts; to difficulties in sharing imaginative play or in making friends; to absence of interest in peers. Specify current severity: Severity is based on social communicat ion impairments and restricted, re- petitive patterns of behavior (seeTable 2). B. Restricted, repetitive patterns of behavior, interests, or activities, as manifested by at least two of the following, currently or by history (examples are illustrative, not exhaus- tive; see text): 1. Stereotyped or repetitive motor movements, use of objects, or speech (e.g., simple motor stereotypies, lining up toys or flipping objects, echolalia, idiosyncratic phrases).
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phrases). 2. Insistence on sameness, inflexible adherence to routines, or ritualized patterns of verbal or nonverbal behavior (e.g., extreme distress at small changes, difficulties with transitions, rigid thinking patterns, greeting rituals, need to take same route or eat same food every day). 3. Highly restricted, fixated interests that are abnormal in intensity or focus (e.g., strong attachment to or preoccupation with unusual objects, excessively circum- scribed or perseverative interests). 4. Hyper- or hyporeactivity to sensory input or unusual interest in sensory aspects of the environment (e.g., apparent indifference to pain/temperature, adverse re- sponse to specific sounds or textures, excessive smelling or touching of objects, visual fascination with lights or movement). Specify current severity: Severity is based on social communicat ion impairments and restricted, re- petitive patterns of behavior (see Table 2). C. Symptoms must be present in the early developmental period (but may not become fully manifest until social demands exceed limited capacities, or may be masked by learned strategies in later life). D. Symptoms cause clinically significant impai rment in social, occupat ional, or other im- portant areas of current functioning.
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Autism Spectrum Disorder 51 E. These disturbances are not better explained by intellectual disability (intellectual devel- opmental disorder) or global developmental delay. Intellectual disability and autism spectrum disorder frequently co-occur; to make comorbid diagnoses of autism spec- trum disorder and intellectual disability, social communication should be below that ex- pected for general developmental level. Note: Individuals with a well-established DSM-IV diagnosis of autistic disorder, Asperger’s disorder, or pervasive developmental disorder not otherwise specified should be given the diagnosis of autism spectrum disorder. Individuals who have marked deficits in social communication, but whose symptoms do not ot herwise meet criteria for autism spectrum disorder, should be evaluated for social (pragmatic) communication disorder. Specify if: With or without accompanying intellectual impairment With or without accompan ying language impairment Associated with a known medical or gene tic condition or en vironmental factor (Coding note: Use additional code to identify the associated medical or genetic condition.) Associated with another neurodevelopmen tal, mental, or behavioral disorder (Coding note: Use additional code[s] to identify the associated neurodevelopmental, mental, or behavioral disorder[s].) With catatonia (refer to the criteria for catatonia associated with another mental dis- order, pp. 119–120, for definition) ( Coding note: Use additional code 293.89 [F06.1] catatonia associated with autism spectrum disorder to indicate the presence of the co- morbid catatonia.) Recording Procedures For autism spectrum disorder th at is associated with a known medical or genetic condition or environmental factor, or with another ne urodevelopmental, mental , or behavioral dis- order, record autism spectrum disorder associated with (name of condition, disorder, or
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order, record autism spectrum disorder associated with (name of condition, disorder, or factor) (e.g., autism spectrum disorder associated with Rett syndrome). Severity should be recorded as level of support needed for ea ch of the two psychopa thological domains in Table 2 (e.g., “requiring very substantial support for deficits in social communication and requiring substantial support fo r restricted, repetitive behaviors”). Specification of “with accompanying intellectual impairment” or “without accompanying intellectual impair- ment” should be recorded next. Language im pairment specification should be recorded thereafter. If there is accompan ying language impairment, the current level of verbal func- tioning should be recorded (e.g., “with accompanying language impairment—no intelligi- ble speech” or “with accompanying language impairment—phrase speech”). If catatonia is present, record separately “catatonia asso ciated with autism spectrum disorder.” Specifiers The severity specifiers (see Table 2) may be used to describe succinctly the current symp- tomatology (which might fall below level 1), with the recognition that severity may vary by context and fluctuate over time. Severity of social communication difficulties and re- stricted, repetitive behaviors sh ould be separately rated. The descriptive severity categories should not be used to determine eligibility fo r and provision of services; these can only be developed at an individual level and through di scussion of personal priorities and targets. Regarding the specifier “with or without ac companying intellectual impairment,” un- derstanding the (often uneven) intellectual prof ile of a child or adult with autism spectrum disorder is necessary for interpre ting diagnostic features. Separate estimates of verbal and nonverbal skill are necessary (e.g., using untimed nonverbal tests to assess potential strengths in individuals with limited language).
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52 Neurodevelopmental DisordersTABLE 2 Severity levels for autism spectrum disorder Severity level Social communication Restricted, repetitive behaviors Level 3 “Requiring very substantial support”Severe deficits in verbal and nonverbal social com- munication skills cause severe impairments in func- tioning, very limited initiation of social interactions, and minimal response to social over- tures from others. For example, a person with few words of intelligible speech who rarely initiates interaction and, when he or she does, makes unusual approaches to meet needs only and responds to only very direct social approaches.Inflexibility of behavior, extreme difficulty coping with change, or other restricted/repetitive behav- iors markedly interfere with functioning in all spheres. Great distress/difficulty changing focus or action. Level 2 “Requiring substantial support”Marked deficits in verbal and nonverbal social com- munication skills; social impairments apparent even with supports in place; limited initiation of social interactions; an d reduced or abnormal responses to social overtures from others. For example, a person who sp eaks simple sentences, whose interaction is limited to narrow special inter- ests, and who has markedly odd nonverbal com- munication.Inflexibility of behavior , difficulty coping with change, or other restricted/repetitive behaviors appear frequently enough to be obvious to the casual observer and inte rfere with functioning in a variety of contexts. Distress and/or difficulty changing focus or action. Level 1 “Requiring support”Without supports in place, deficits in social communi- cation cause noticeable impairments. Difficulty initiating social interactions, and clear examples of atypical or unsuccessful responses to
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Difficulty initiating social interactions, and clear examples of atypical or unsuccessful responses to social overtures of others. May appear to have decreased interest in social interactions. For example, a person who is able to speak in full sentences and engages in communication but whose to-and-fro con- versation with others fails, and whose attempts to make friends are odd and typically unsuccessful.Inflexibility of behavior causes significant interfer- ence with functioning in one or more contexts. Dif- ficulty switching between activities. Problems of organization and planning hamper independence.
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Autism Spectrum Disorder 53 To use the specifier “with or without acco mpanying language impairment,” the cur- rent level of verbal functioning should be ass essed and described. Ex amples of the specific descriptions for “with accompanying language impairment” might include no intelligible speech (nonverbal), single words only, or phrase speech. Language level in individuals “without accompanying language impairment” might be further described by speaks in full sentences or has fluent speech. Since receptive language may lag behind expressive language development in autism spectrum disorder, receptive and expressive language skills should be considered separately. The specifier “associated with a known medica l or genetic condition or environmental fac- tor” should be used when the individual has a known genetic disorder (e.g., Rett syndrome, Fragile X syndrome, Down syndrome), a medical disorder (e.g. epilepsy), or a history of envi- ronmental exposure (e.g., valproate, fetal alcohol syndrome, very low birth weight). Additional neurodevelopmental, mental or be havioral conditions should also be noted (e.g., attention-deficit/hypera ctivity disorder; developmenta l coordination disorder; dis- ruptive behavior, impulse-control, or conduct disorders; anxiety, depressive, or bipolar disorders; tics or Tourette’s disorder; self-inj ury; feeding, eliminatio n, or sleep disorders). Diagnostic Features The essential features of autism spectrum diso rder are persistent impairment in reciprocal social communication and social interaction (Criterion A), and restricted, repetitive pat- terns of behavior, interests, or activities (Criterion B). These symptoms are present from early childhood and limit or impair everyday functioning (Criteria C and D). The stage at which functional impairment becomes obvious will vary according to characteristics of
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which functional impairment becomes obvious will vary according to characteristics of the individual and his or her environment. Co re diagnostic features are evident in the developmental period, but intervention, co mpensation, and current supports may mask difficulties in at least some contexts. Manifestations of the disorder also vary greatly de- pending on the severity of the autistic condit ion, developmental level, and chronological age; hence, the term spectrum. Autism spectrum disorder enco mpasses disorders previously re- ferred to as early infantile autism, childhood autism, Ka nner’s autism, high-functioning autism, atypical autism, pervasive developmen tal disorder not otherw ise specified, child- hood disintegrative disorder , and Asperger’s disorder. The impairments in communicat ion and social interaction specified in Criterion A are pervasive and sustained. Diagnoses are most valid and reliable when based on multiple sources of information, including clinician’s observations, caregiver history, and, when possible, self-report. Verbal and nonverbal deficits in social communication have varying manifestations, depending on the individual’s age, intellectual level, and language ability, as well as other factors such as treatment history and current support. Many individuals have language deficits, ranging from complete lack of speech through language delays, poor comprehension of speech, echoed speech, or stilted and overly literal language. Even when formal language skills (e.g ., vocabulary, grammar) are intact, the use of language for reciprocal social communication is im paired in autism spectrum disorder. Deficits in social-emotional reciprocity (i.e., the ability to engage with others and share thoughts and feelings) are cl early evident in young children with the disorder, who may show little or no initiation of social interaction and no sharing of emotions, along with re-
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show little or no initiation of social interaction and no sharing of emotions, along with re- duced or absent imitation of others’ behavior . What language exists is often one-sided, lacking in social reciprocity, and used to re quest or label rather th an to comment, share feelings, or converse. In adults without inte llectual disabilities or language delays, deficits
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lacking in social reciprocity, and used to re quest or label rather th an to comment, share feelings, or converse. In adults without inte llectual disabilities or language delays, deficits in social-emotional reciprocity may be most apparent in difficulties processing and re- sponding to complex social cues (e.g., when and how to join a conversation, what not to say). Adults who have developed compensation strategies for some social challenges still struggle in novel or un supported situations and suffer fr om the effort and anxiety of con- sciously calculating what is social ly intuitive for most individuals.
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54 Neurodevelopmental Disorders Deficits in nonverbal communicative behavi ors used for social interaction are mani- fested by absent, reduced, or atypical use of eye contact (relative to cultural norms), ges- tures, facial expressions, body orientation, or speech intona tion. An early feature of autism spectrum disorder is impaired joint attention as manifested by a lack of pointing, showing, or bringing objects to share interest with others, or failure to follow someone’s pointing or eye gaze. Individuals may learn a few functional gestures, but their re pertoire is smaller than that of others, and they often fail to use expressive gestures spontaneously in com- munication. Among adults with fluent language, the difficulty in coordinating nonverbal communication with speech may give the impr ession of odd, wooden, or exaggerated “body language” during interactions. Impairme nt may be relatively subtle within indi- vidual modes (e.g., someone may have relati vely good eye contact when speaking) but noticeable in poor integration of eye contact, gesture, body posture, prosody, and facial ex- pression for social communication. Deficits in developing, maintaining, an d understanding relationships should be judged against norms for age, gender, and culture. There may be absent, reduced, or atyp- ical social interest, manifested by rejectio n of others, passivity, or inappropriate ap- proaches that seem aggressive or disruptive . These difficulties are particularly evident in young children, in whom there is often a lack of shared social play and imagination (e.g., age-appropriate flexible pretend play) and, late r, insistence on playing by very fixed rules. Older individuals may struggle to understand what behavior is considered appropriate in
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Older individuals may struggle to understand what behavior is considered appropriate in one situation but not another (e.g., casual beha vior during a job interview), or the different ways that language may be used to communic ate (e.g., irony, white lies). There may be an apparent preference for solitary activities or for interacting with much younger or older people. Frequently, there is a de sire to establish friendships wi thout a complete or realistic idea of what friendship entails (e.g., one-sid ed friendships or friendships based solely on shared special interests). Relationships with siblings, co-workers, and caregivers are also important to consider (i n terms of reciprocity). Autism spectrum disorder is also defined by restricted, repetitive patterns of behavior, interests, or activities (as specified in Criterion B), which show a range of manifestations according to age and ability, intervention, and current supports. Stereotyped or repetitive behaviors include simple motor stereotypies (e.g., hand flappi ng, finger flicking), repeti- tive use of objects (e.g., spinning coins, linin g up toys), and repetitive speech (e.g., echola- lia, the delayed or immediate parroting of heard words; use of “you” when referring to self; stereotyped use of words, phrases, or pr osodic patterns). Exce ssive adherence to rou- tines and restricted patterns of behavior may be manifest in resistance to change (e.g., dis- tress at apparently small changes, such as in packaging of a favorite food; insistence on adherence to rules; rigidity of thinking) or ri tualized patterns of ve rbal or nonverbal be- havior (e.g., repetitive questioning, pacing a perimeter). Highly restricted, fixated interests
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havior (e.g., repetitive questioning, pacing a perimeter). Highly restricted, fixated interests in autism spectrum disorder tend to be ab normal in intensity or focus (e.g., a toddler strongly attached to a pan; a child preoccupied with vacuum cleaners; an adult spending hours writing out timetables). Some fascinations and routines may relate to apparent hy- per- or hyporeactivity to sensory input, ma nifested through extreme responses to specific sounds or textures, excessive smelling or touc hing of objects, fascination with lights or spinning objects, and sometimes apparent indi fference to pain, heat, or cold. Extreme re-
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sounds or textures, excessive smelling or touc hing of objects, fascination with lights or spinning objects, and sometimes apparent indi fference to pain, heat, or cold. Extreme re- action to or rituals involving taste, smell, te xture, or appearance of food or excessive food restrictions are common and ma y be a presenting feature of autism spectrum disorder. Many adults with autism spectrum disord er without intellectual or language disabili- ties learn to suppress repetitive behavior in public . Specia l interests may be a source of pleasure and motivation and provide avenues for education and employment later in life. Diagnostic criteria may be met when restricted, repetitive patterns of behavior, interests, or activities were clearly pres ent during childhood or at some time in the past, even if symptoms are no longer present.
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Autism Spectrum Disorder 55 Criterion D requires that the features must ca use clinically significant impairment in so- cial, occupational, or other impo rtant areas of current function ing. Criterion E specifies that the social communication defici ts, although sometime s accompanied by intellectual disabil- ity (intellectual developmental disorder), are not in line with the individual’s developmental level; impairments exceed difficulties expected on the basis of developmental level. Standardized behavioral diagnostic instruments with good psychometric properties, including caregiver interviews, questionnair es and clinician observation measures, are available and can improve re liability of diagnosis over time and across clinicians. Associated Features Supporting Diagnosis Many individuals with autism spectrum disorder also have intellectual impairment and/or language impairment (e.g., slow to talk, language comprehension behind production). Even those with average or high inte lligence have an uneven profil e of abilities. The gap between intellectual and adaptive function al skills is often large. Moto r deficits are often present, in- cluding odd gait, clumsiness, and other abnormal motor signs (e.g., walk ing on tiptoes). Self- injury (e.g., head banging, biting the wris t) may occur, and disr uptive/challenging behav- iors are more common in children and adoles cents with autism spectrum disorder than other disorders, including intellectual disabili ty. Adolescents and adults with autism spec- trum disorder are prone to anxiety and depres sion. Some individuals develop catatonic-like motor behavior (slowing and “f reezing” mid-action), but thes e are typically not of the mag- nitude of a catatonic episode. However, it is possible for individuals with autism spectrum disorder to experience a marked deterioratio n in motor symptoms an d display a full cata-
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disorder to experience a marked deterioratio n in motor symptoms an d display a full cata- tonic episode with symptoms such as mutism, posturing, grimacing and waxy flexibility. The risk period for comorbid catatonia appears to be greate st in the adolescent years. Prevalence In recent years, reported frequencies for au tism spectrum disorder across U.S. and non- U.S. countries have approached 1% of the po pulation, with similar estimates in child and adult samples. It remains unclear whether high er rates reflect an expansion of the diag- nostic criteria of DSM-IV to include subthreshold cases, increased awareness, differences in study methodology, or a true increase in the frequency of autism spectrum disorder. Development and Course The age and pattern of onset also should be noted for autism spectr um disorder. Symptoms are typically recognized during th e second year of life (12–24 months of age) but may be seen earlier than 12 months if developmental delays are severe, or noted later than 24 months if symptoms are more subtle. The pattern of onset description might include information about early developmental delays or any losses of social or language skills. In cases where skills have been lost, parents or caregivers may give a history of a gradual or relatively rapid deterioration in social behaviors or lang uage skills. Typically, this would occur be- tween 12 and 24 months of age and is distinguished from the rare instances of developmen- tal regression occurring after at least 2 years of normal development (previously described as childhood disintegrative disorder). The behavioral features of autism spectrum disorder first become evident in early childhood, with some cases presenting a lack of interest in social interaction in the first year of life. Some children with autism spectrum disorder experience developmental pla-
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year of life. Some children with autism spectrum disorder experience developmental pla- teaus or regression, with a gradual or relatively rapid deterioration in social behaviors or use of language, often du ring the first 2 years of life. Such losses are rare in other disor- ders and may be a useful “red flag” for autism spectrum disorder. Much more unusual
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use of language, often du ring the first 2 years of life. Such losses are rare in other disor- ders and may be a useful “red flag” for autism spectrum disorder. Much more unusual and warranting more extensive medical invest igation are losses of skills beyond social communication (e.g., loss of se lf-care, toileting, motor skills) or those occurring after the
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56 Neurodevelopmental Disorders second birthday (see also Rett syndrome in the section “Differential Diagnosis” for this disorder). First symptoms of autism spectrum disorder frequently involve delayed language de- velopment, often accompanied by lack of social interest or unusual social interactions (e.g., pulling individuals by the hand without any a ttempt to look at them ), odd play patterns (e.g., carrying toys around but never pl aying with them), and unusual communication patterns (e.g., knowing the alphabet but not responding to own name). Deafness may be suspected but is typically ruled out. During the second year, odd and repetitive behaviors and the absence of typical play become more apparent. Since many typically developing young children have strong preferences and en joy repetition (e.g., eating the same foods, watching the same vide o multiple times), dist inguishing restricted and repetitive behav- iors that are diagnostic of autism spectrum disorder can be difficult in preschoolers. The clinical distinction is based on the type, freq uency, and intensity of the behavior (e.g., a child who daily lines up objects for hours an d is very distressed if any item is moved). Autism spectrum disorder is not a degenera tive disorder, and it is typical for learning and compensation to continue throughout life. Symptoms are often most marked in early childhood and early school years, with deve lopmental gains typical in later childhood in at least some areas (e.g., increa sed interest in social interact ion). A small proportion of in- dividuals deteriorate behaviorally during adolescence, whereas most others improve. Only a minority of individuals with autism spectrum disorder live and work indepen- dently in adulthood; those who do tend to have superior lang uage and intellectual abilities
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dently in adulthood; those who do tend to have superior lang uage and intellectual abilities and are able to find a niche that matches thei r special interests and skills. In general, indi- viduals with lower levels of impairment may be better able to function independently. However, even these individuals may remain socially naive and vulnerable, have difficul- ties organizing practical dema nds without aid, and are pron e to anxiety and depression. Many adults report using compensation strate gies and coping mechanisms to mask their difficulties in public but suffer from the stress and effort of maintaining a socially accept- able facade. Scarcely anything is known ab out old age in autism spectrum disorder. Some individuals come for first diagnosis in adulthood, perhaps prompted by the diagno- sis of autism in a child in the family or a breakdown of relations at work or home. Obtaining de- tailed developmental history in such cases may be difficult, and it is important to consider self- reported difficulties. Where clinical observat ion suggests criteria are currently met, autism spectrum disorder may be diagno sed, provided there is no evidence of good social and com- munication skills in childhood. For example, the re port (by parents or another relative) that the individual had ordinary and sustained recipr ocal friendships and good nonverbal communi- cation skills throughout childhood would rule out a diagnosis of autism spectrum disorder; however, the absence of de velopmental information in itself should not do so. Manifestations of the social and communication impairments and restricted/repeti- tive behaviors that define autism spectrum d isorder are clear in th e developmental period. In later life, intervention or compensation, as well as current supports, may mask these dif-
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In later life, intervention or compensation, as well as current supports, may mask these dif- ficulties in at least some co ntexts. However, symptoms remain sufficient to cause current impairment in social, occupational, or other important areas of functioning. Risk and Prognostic Factors The best established prognostic factors for individual outcome wi thin autism spectrum disorder are presence or absence of associa ted intellectual disability and language impair-
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The best established prognostic factors for individual outcome wi thin autism spectrum disorder are presence or absence of associa ted intellectual disability and language impair- ment (e.g., functional language by age 5 years is a good prognostic sign) and additional mental health problems. Epilepsy, as a comorb id diagnosis, is associated with greater in- tellectual disability and lower verbal ability. Environmental. A variety of nonspecific risk factors, such as advanced parental age, low birth weight, or fetal exposure to valproate, may contribute to risk of autism spectrum dis- order.
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Autism Spectrum Disorder 57 Genetic and physiological. Heritability estimates for au tism spectrum disorder have ranged from 37% to higher than 90%, based on twin concordance rates. Currently, as many as 15% of cases of autism spec trum disorder appear to be associated with a known genetic mutation, with different de novo copy number variants or de novo mutations in specific genes associated with the disorder in differ ent families. However, even when an autism spectrum disorder is associated with a know n genetic mutation, it does not appear to be fully penetrant. Risk for the remainder of case s appears to be polygenic, with perhaps hun- dreds of genetic loci making relatively small contributions. Culture-Related Diagnostic Issues Cultural differences will exist in norms for social interaction, no nverbal communication, and relationships, but individuals with auti sm spectrum disorder are markedly impaired against the norms for their cultural context. Cultural and socioeconomic factors may affect age at recognition or diagnosis; for example, in the United Stat es, late or underdiagnosis of autism spectrum disorder among Af rican American children may occur. Gender-Related Diagnostic Issues Autism spectrum disorder is di agnosed four times more often in males than in females. In clinic samples, females tend to be more li kely to show accompanying intellectual disabil- ity, suggesting that girls without accompan ying intellectual impairments or language delays may go unrecognized, perhaps because of subtler manifestatio n of social and com- munication difficulties. Functional Consequences of Autism Spectrum Disorder In young children with autism spectrum diso rder, lack of social and communication abil- ities may hamper learning, especially learning through social interaction or in settings
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ities may hamper learning, especially learning through social interaction or in settings with peers. In the home, insistence on rout ines and aversion to change, as well as sensory sensitivities, may interfere with eating and sleeping and make routine care (e.g., haircuts, dental work) extremely difficult. Adaptive skills are typically below measured IQ. Ex- treme difficulties in planning, organization , and coping with change negatively impact academic achievement, even fo r students with above-average intelligence. During adult- hood, these indivi duals may have difficulties establishing independence because of con- tinued rigidity and difficulty with novelty. Many individuals with autism spectrum d isorder, even without intellectual disability, have poor adult psychosocial functioning as indexed by measures such as independent living and gainful employment. Functional cons equences in old age are unknown, but so- cial isolation and communication problems (e .g., reduced help-seeking) are likely to have consequences for health in older adulthood. Differential Diagnosis Rett syndrome. Disruption of social interaction ma y be observed during the regressive phase of Rett syndrome (typic ally between 1–4 years of age); thus, a substantial proportion of affected young girls may ha ve a presentation that meets diagnostic criteria for autism spectrum disorder. Howe ver, after this period, most individuals with Rett syndrome im- prove their social communication skills, and auti stic features are no longer a major area of concern. Consequently, autism spectrum disorder should be considered only when all di- agnostic criteria are met. Selective mutism. In selective mutism, early develo pment is not typically disturbed. The affected child usually exhibits appropriate communication skills in certain contexts and settings. Even in settings where the child is mute, social reciprocity is not impaired,
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and settings. Even in settings where the child is mute, social reciprocity is not impaired, nor are restricted or repetitive patterns of behavior present.
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58 Neurodevelopmental Disorders Language disorders and social (p ragmatic) communi cation disorder. In some forms of language disorder, there may be problems of communication an d some secondary so- cial difficulties. However, specific language disorder is not usually associated with abnor- mal nonverbal communication, no r with the presence of restricted, repetitive patterns of behavior, interests, or activities. When an individual shows impairment in social communication and social interactions but does not show restricted and repetitive beha vior or interests, criteria for social (prag- matic) communication disorder, instead of autism spectrum disorder, may be met. The di- agnosis of autism spectrum disorder supersedes that of so cial (pragmatic) communication disorder whenever the criteria for autism spectrum disorder are met, and care should be taken to enquire carefully regarding past or current restricted/repetitive behavior. Intellectual disability (intellectual developmental disorder) wit hout autism spectrum disorder. Intellectual disability without autism spectrum disorder may be difficult to differentiate from autism spectrum disorder in very young children. Individuals with in- tellectual disability who have not developed language or symbolic skills also present a challenge for differential diagnos is, since repetitive behavior often occurs in such individ- uals as well. A diagnosis of autism spectrum disorder in an indivi dual with intellectual disability is appropriate when social communi cation and interaction are significantly im- paired relative to the developmental level of the individual’s nonverbal skills (e.g., fine motor skills, nonverbal problem solving). In cont rast, intellectual disability is the appropri- ate diagnosis when there is no apparent di screpancy between the le vel of social-commu- nicative skills and other intellectual skills. Stereotypic movement disorder. Motor stereotypies are among the diagnostic charac-
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Stereotypic movement disorder. Motor stereotypies are among the diagnostic charac- teristics of autism spectrum disorder, so an additional diagnosis of stereotypic movement disorder is not given when such repetitive be haviors are better explained by the presence of autism spectrum disorder. However, when stereotypies cause self-injury and become a focus of treatment, both diagnoses may be appropriate. Attention-deficit/hyperactivity disorder. Abnormalities of attention (overly focused or easily distracted) are common in individuals with autism spectrum disorder, as is hy- peractivity. A diagnosi s of attention-deficit/hyperactivity disord er (ADHD) should be considered when attentional difficulties or hyperactivity exceeds that typically seen in in- dividuals of comparable mental age. Schizophrenia. Schizophrenia with childhood onset usually develops after a period of normal, or near normal, development. A prod romal state has been described in which so- cial impairment and atypical interests and belie fs occur, which could be confused with the social deficits seen in autism spectrum d isorder. Hallucinations and delusions, which are defining features of schizophrenia, are not features of autism spectrum disorder. How- ever, clinicians must take into account the potential for individual s with autism spectrum disorder to be concrete in their interpretati on of questions regarding the key features of schizophrenia (e.g., “Do you he ar voices when no one is th ere?” ”Yes [on the radio]”). Comorbidity Autism spectrum disorder is frequently assoc iated with intellectual impairment and struc- tural language disorder (i.e., an inability to comprehend and construc t sentences with proper grammar), which should be noted under the relevant specifiers when applicable. Many in-
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grammar), which should be noted under the relevant specifiers when applicable. Many in- dividuals with autism spectrum disorder have psychiatric sympto ms that do not form part of the diagnostic criteria for the disorder (about 70% of individuals with autism spectrum dis- order may have one comorbid mental disord er, and 40% may have two or more comorbid
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the diagnostic criteria for the disorder (about 70% of individuals with autism spectrum dis- order may have one comorbid mental disord er, and 40% may have two or more comorbid mental disorders). When criteria for both ADHD and autism spectrum disorder are met, both diagnoses should be given. This same principle applies to concurrent diagnoses of autism spectrum disorder and developmental coordina tion disorder, anxiety disorders, depressive
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Attention-Deficit/Hyperactivity Disorder 59 disorders, and other comorbid diagnoses. Among individuals who are nonverbal or have language deficits, observable si gns such as changes in sleep or eating and increases in chal- lenging behavior should trigger an evaluation fo r anxiety or depression. Specific learning dif- ficulties (literacy and numeracy ) are common, as is developm ental coordination disorder. Medical conditions commonly associated with autism spectrum disorder should be noted under the “associated with a known medical/ge netic or environmental/acquired condition” specifier. Such medical conditions include epilepsy, sleep proble ms, and constipation. Avoidant-restrictive food intake disorder is a fairly frequent presenting feature of autism spectrum disorder, and extreme and na rrow food preferences may persist. Attention-Deficit/Hyperactivity Disorder Attention-Deficit/Hyperactivity Disorder Diagnostic Criteria A. A persistent pattern of inattention and/or hyperactivity-impulsivity that interferes with functioning or development, as characterized by (1) and/or (2): 1.Inattention: Six (or more) of the following symptoms have persisted for at least 6 months to a degree that is inconsistent with developmental level and that nega- tively impacts directly on social and academic/occupational activities: Note: The symptoms are not solely a manifestation of oppositional behavior, defi- ance, hostility, or failure to understand tasks or instructions. For older adolescents and adults (age 17 and older), at least five symptoms are required. a. Often fails to give close attention to details or makes careless mistakes in schoolwork, at work, or during other activities (e.g., overlooks or misses details, work is inaccurate).
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work is inaccurate). b. Often has difficulty sustaining attention in tasks or play activities (e.g., has diffi- culty remaining focused during lectures, conversations, or lengthy reading). c. Often does not seem to listen when spoken to directly (e.g., mind seems else- where, even in the absence of any obvious distraction). d. Often does not follow through on instructions and fails to finish schoolwork, chores, or duties in the workplace (e.g., starts tasks but quickly loses focus and is easily sidetracked). e. Often has difficulty organizing tasks and activities (e.g., difficulty managing se- quential tasks; difficulty keeping materials and belongings in order; messy, dis- organized work; has poor time management; fails to meet deadlines). f. Often avoids, dislikes, or is reluctant to engage in tasks that require sustained mental effort (e.g., schoolwork or hom ework; for older adolescents and adults, preparing reports, completing form s, reviewing lengthy papers). g. Often loses things necessary for tasks or activities (e.g., school materials, pen- cils, books, tools, wallets, keys, paperwork, eyeglasses, mobile telephones). h. Is often easily distracted by extraneous stimuli (for older adolescents and adults, may include unrelated thoughts). i. Is often forgetful in daily activities (e.g., doing chores, running errands; for older adolescents and adults, returning calls, paying bills, keeping appointments).
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60 Neurodevelopmental Disorders 2.Hyperactivity and impulsivity: Six (or more) of the following symptoms have per- sisted for at least 6 months to a degree that is inconsistent with developmental level and that negatively impacts directly on social and academic/occupational activities: Note: The symptoms are not solely a manifestation of opposition al behavior, defi- ance, hostility, or a failure to understand tasks or instructions. For older adolescents and adults (age 17 and older), at least five symptoms are required. a. Often fidgets with or taps hands or feet or squirms in seat. b. Often leaves seat in situations when remaining seated is expected (e.g., leaves his or her place in the classroom, in the office or other workplace, or in other situations that require remaining in place). c. Often runs about or climbs in situations where it is inappropriate. ( Note: In ad- olescents or adults, may be limited to feeling restless.) d. Often unable to play or engage in leisure activities quietly. e. Is often “on the go,” acting as if “driven by a motor” (e.g., is unable to be or un- comfortable being still for extended time, as in restaurants, meetings; may be experienced by others as being restless or difficult to keep up with). f. Often talks excessively. g. Often blurts out an answer before a question has been completed (e.g., com- pletes people’s sentences; cannot wait for turn in conversation). h. Often has difficulty waiting his or her turn (e.g., while waiting in line). i. Often interrupts or intrudes on others (e.g., butts into conversations, games, or activities; may start using other people’s things without asking or receiving per-
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activities; may start using other people’s things without asking or receiving per- mission; for adolescents and adults, may intrude into or take over what others are doing). B. Several inattentive or hyperactive-impulsive symptoms were present prior to age 12 years. C. Several inattentive or hyperactive-impulsive symptoms are present in two or more set- tings (e.g., at home, school, or work; with friends or relatives; in other activities). D. There is clear evidence that the symptoms interfere with, or reduce the quality of, so- cial, academic, or occupational functioning. E. The symptoms do not occur exclusively during the course of schizophrenia or another psychotic disorder and are not better explai ned by another mental disorder (e.g., mood disorder, anxiety disorder, dissociative diso rder, personality disorder, substance intox- ication or withdrawal). Specify whether: 314.01 (F90.2) Combined presentation: If both Criterion A1 (inattention) and Crite- rion A2 (hyperactivity-impulsivity) are met for the past 6 months. 314.00 (F90.0) Predominantly inattentive presentation: If Criterion A1 (inattention) is met but Criterion A2 (hyperactivity-impulsivity) is not met for the past 6 months. 314.01 (F90.1) Predominantly hyperactive/impulsive presentation: If Criterion A2 (hy- peractivity-impulsivity) is met and Criterion A1 (inattention) is not met for the past 6 months. Specify if: In partial remission: When full criteria were previously met, fewer than the full criteria
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In partial remission: When full criteria were previously met, fewer than the full criteria have been met for the past 6 months, and the symptoms still result in impairment in social, academic, or occupational functioning. Specify current severity: Mild: Few, if any, symptoms in excess of those required to make the diagnosis are present, and symptoms result in no more than minor impairments in social or occupa- tional functioning. Moderate: Symptoms or functional impairment between “mild” and “severe” are present.
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Attention-Deficit/Hyperactivity Disorder 61 Severe: Many symptoms in excess of those required to make the diagnosis, or several symptoms that are particularly severe, are present, or the symptoms result in marked impairment in social or occupational functioning. Diagnostic Features The essential feature of attent ion-deficit/hyperactivity disorder (ADHD) is a persistent pattern of inattention and/or hyperactivity-impulsivity that interferes with functioning or development. Inattention manifests behaviorally in ADHD as wandering off task, lacking persistence, having difficulty sustaining focus, and being disorganized and is not due to defiance or lack of comprehension. Hyperactivity refers to excessive motor activity (such as a child running about) when it is not appropriat e, or excessive fidgeting, tapping, or talk- ativeness. In adults, hyperactivity may manife st as extreme restlessness or wearing others out with their activity. Impulsivity refers to hasty actions that occur in the moment without forethought and that have high potential for harm to the individual (e.g., darting into the street without looking). Impulsivity may reflec t a desire for immediate rewards or an in- ability to delay gratification. Impulsive behaviors may manifest as social intrusiveness (e.g., interrupting others excessively) and/ or as making important decisions without con- sideration of long-term consequences (e.g., taking a job without ad equate information). ADHD begins in childhood. The requirement that several symptoms be present before age 12 years conveys the importance of a substantial clinical presentation during child- hood. At the same time, an earlier age at onset is not specified because of difficulties in es- tablishing precise childhood onset retrospectively. Adult recall of childhood symptoms
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tablishing precise childhood onset retrospectively. Adult recall of childhood symptoms tends to be unreliable, and it is bene ficial to obtain ancillary information. Manifestations of the disorder must be presen t in more than one setting (e.g., home and school, work). Confirmation of substantial symptoms across settings typically cannot be done accurately without consulting informants who have seen the individual in those set- tings. Typically, symptoms vary depending on context within a given setting. Signs of the disorder may be minimal or absent when the individual is receiving frequent rewards for appropriate behavior, is under close supervision, is in a novel setting, is engaged in espe- cially interesting activities, has consistent exte rnal stimulation (e.g., via electronic screens), or is interacting in one-on-one situa tions (e.g., the clinician's office). Associated Features Supporting Diagnosis Mild delays in language, motor, or social development are not specific to ADHD but often co- occur. Associated features may in clude low frustration tolerance, irritability, or mood lability. Even in the absence of a specific learning disorder, academic or work performance is often im- paired. Inattentive behavior is associated with various underlying cognit ive processes, and in- dividuals with ADHD may exhibit cognitive pr oblems on tests of attention, executive function, or memory, although these tests are not suff iciently sensitive or specific to serve as di- agnostic indices. By early adulthood, ADHD is a ssociated with an increased risk of suicide at- tempt, primarily when comorbid with mood, conduct, or substance use disorders. No biological marker is diagnostic for AD HD. As a group, compared with peers, chil- dren with ADHD display incr eased slow wave electroenc ephalograms, reduced total
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dren with ADHD display incr eased slow wave electroenc ephalograms, reduced total brain volume on magnetic resonance imaging, and possibly a delay in posterior to anterior cortical maturation, but thes e findings are not diagnostic . In the uncommon cases where there is a known genetic cause (e.g., Fragile X syndrome, 22q11 deletion syndrome), the ADHD presentation should still be diagnosed. Prevalence Population surveys sugge st that ADHD occurs in most cultures in about 5% of children
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ADHD presentation should still be diagnosed. Prevalence Population surveys sugge st that ADHD occurs in most cultures in about 5% of children and about 2.5% of adults.
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62 Neurodevelopmental Disorders Development and Course Many parents first observe excessive motor activity when the child is a toddler, but symp- toms are difficult to distinguish from highly variable normative be haviors before age 4 years. ADHD is most often identified during elementary school years, and inattention be- comes more prominent and impairing. The disord er is relatively stable through early ad- olescence, but some individuals have a worsened course wi th development of antisocial behaviors. In most individuals with ADHD , symptoms of motoric hyperactivity become less obvious in adolescence and adulthood, bu t difficulties with restlessness, inattention, poor planning, and impulsivity persist. A subs tantial proportion of children with ADHD remain relatively impa ired into adulthood. In preschool, the main manifestation is hyperactivity. Inattentio n becomes more prom- inent during elementary school. During adoles cence, signs of hypera ctivity (e.g., running and climbing) are less common and may be conf ined to fidgetiness or an inner feeling of jitteriness, restlessness, or im patience. In adulthood, along wi th inattention and restless- ness, impulsivity may remain problematic ev en when hyperactivity has diminished. Risk and Prognostic Factors Temperamental. ADHD is associated with reduced be havioral inhibition, effortful con- trol, or constraint; negative emotionality; an d/or elevated novelty seeking. These traits may predispose some children to ADHD bu t are not specific to the disorder. Environmental. Very low birth weight (less than 1,500 grams) conveys a two- to three- fold risk for ADHD, but most children with low birth weig ht do not develop ADHD. Al- though ADHD is correlated with smoking du ring pregnancy, some of this association
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though ADHD is correlated with smoking du ring pregnancy, some of this association reflects common genetic risk. A minority of c ases may be related to reactions to aspects of diet. There may be a history of child abuse, neglect, multiple foster placements, neurotoxin exposure (e.g., lead), infectio ns (e.g., encephalitis), or alcohol exposure in utero. Exposure to environmental toxicants has been correlat ed with subsequent ADHD, but it is not known whether these associations are causal. Genetic and physiological. ADHD is elevated in the firs t-degree biological relatives of individuals with ADHD. The heritability of AD HD is substantial. While specific genes have been correlated with ADHD, they are ne ither necessary nor sufficient causal factors. Visual and hearing impairments, metabolic abnormalities, sleep disorders, nutritional de- ficiencies, and epilepsy should be considered as possible influences on ADHD symptoms. ADHD is not associated with specific physic al features, although rates of minor phys- ical anomalies (e.g., hypertelorism, highly arched palate, low-set ears) may be relatively elevated. Subtle motor delays and other neur ological soft signs may occur. (Note that marked co-occurring clumsiness and motor delays should be coded separately [e.g., de- velopmental coordina tion disorder].) Course modifiers. Family interaction patterns in ea rly childhood are unlikely to cause ADHD but may influence its course or contri bute to secondary development of conduct problems. Culture-Related Diagnostic Issues Differences in ADHD prevalence rates across re gions appear attributable mainly to differ- ent diagnostic and methodological practices. However, there also may be cultural varia- tion in attitudes toward or interpretations of children’s behaviors. Clinical identification
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tion in attitudes toward or interpretations of children’s behaviors. Clinical identification rates in the United States for African Americ an and Latino populations tend to be lower than for Caucasian populations. Informant symptom ratings may be influenced by cul- tural group of the child and the informant, su ggesting that culturally appropriate practices are relevant in assessing ADHD.
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Attention-Deficit/Hyperactivity Disorder 63 Gender-Related Diagnostic Issues ADHD is more frequent in males than in fema les in the general population, with a ratio of approximately 2:1 in children and 1.6:1 in ad ults. Females are more likely than males to present primarily with inattentive features. Functional Consequences of Attention-Deficit/Hy peractivity Disorder ADHD is associated with reduced school performance and academic attainment, social re- jection, and, in adults, poorer occupation al performance, attainment, attendance, and higher probability of unemployment as well as elevated interpersonal conflict. Children with ADHD are significantly more likely than their peers without ADHD to develop con- duct disorder in adolescence and antisocial personality disorder in adulthood, conse- quently increasing the likelihood for substance use disorders and incarceration. The risk of subsequent substance use disorders is elevated, especially when conduct disorder or an- tisocial personality disorder develops. Individuals with ADHD are more likely than peers to be injured. Traffic accidents and violatio ns are more frequent in drivers with ADHD. There may be an elevated likelihood of obesity among individuals with ADHD. Inadequate or variable self-app lication to tasks that require sustained effort is often in- terpreted by others as laziness , irresponsibility, or failure to cooperate. Family relation- ships may be characterized by discord and ne gative interactions. Peer relationships are often disrupted by peer rejection, neglect, or teasing of the individual with ADHD. On av- erage, individuals with ADHD obtain less schooling, have poorer vocational achievement, and have reduced intellectual scores than their peers, although there is great variability. In its severe form, the disorder is markedly impairing, affecting social, familial, and scholas- tic/occupational adjustment.
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tic/occupational adjustment. Academic deficits, school-relat ed problems, and peer neglect tend to be most associ- ated with elevated symptoms of inattention, whereas peer reje ction and, to a lesser extent, accidental injury are most salient with mark ed symptoms of hyperactivity or impulsivity. Differential Diagnosis Oppositional defiant disorder. Individuals with oppositional defiant disorder may re- sist work or school tasks that require self-application because they resist conforming to others' demands. Their behavior is characte rized by negativity, hostility, and defiance. These symptoms must be differentiated from aversion to school or mentally demanding tasks due to difficulty in sustaining mental effort, forgetting instructions, and impulsivity in individuals with ADHD. Complicating the di fferential diagnosis is the fact that some individuals with ADHD may develop secondary oppositional attitudes toward such tasks and devalue their importance. Intermittent explosive disorder. ADHD and intermittent expl osive disorder share high levels of impulsive behavior. However, indi viduals with intermitte nt explosive disorder show serious aggression toward others, which is not characteristic of ADHD, and they do not experience problems with sustaining atte ntion as seen in ADHD. In addition, intermit- tent explosive disorder is rare in childhood. Intermittent explosive disorder may be diag- nosed in the presence of ADHD. Other neurodevelopmental disorders. The increased motoric acti vity that may occur in ADHD must be distinguished from the repetiti ve motor behavior that characterizes stereo- typic movement disorder and some cases of autism spectr um disorder. In stereotypic movement disorder, the motoric be havior is generally fixed and repetitive (e.g., body rock- ing, self-biting), whereas the fidgetiness and restlessness in ADHD are typically general-
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ized and not characterized by repetitive ster eotypic movements. In Tourette’s disorder,
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64 Neurodevelopmental Disorders frequent multiple tics can be mistaken for the generalized fidgetiness of ADHD. Prolonged observation may be needed to differentiate fidgetiness from bouts of multiple tics. Specific learning disorder. Children with specific learning disorder may appear inat- tentive because of frustration, lack of interest, or limited ab ility. However, inattention in individuals with a specific learning disorder who do not have ADHD is not impairing out- side of academic work. Intellectual disability (intell ectual developmental disorder). Symptoms of ADHD are common among children placed in academic sett ings that are inappropriate to their intel- lectual ability. In such cases, the symptoms are not evident during non-academic tasks. A diagnosis of ADHD in intellectual disability requires that inattention or hyperactivity be excessive for mental age. Autism spectrum disorder. Individuals with ADHD and those with autism spectrum disorder exhibit inattention, social dysfunction, and difficult-to-manage behavior. The so- cial dysfunction and peer rejection seen in individuals with ADHD must be distinguished from the social disengagement, isolation, an d indifference to facial and tonal communica- tion cues seen in individuals with autism sp ectrum disorder. Childr en with autism spec- trum disorder may display tantru ms because of an inability to tolerate a change from their expected course of events. In contrast, child ren with ADHD may misbehave or have a tan- trum during a major transition because of impulsivity or poor self-control. Reactive attachment disorder. Children with reactive attachment disorder may show social disinhibition, but not the full ADHD symptom cluster, and display other features such as a lack of enduring relationship s that are not characteristic of ADHD. Anxiety disorders. ADHD shares symptoms of inattent ion with anxiety disorders. Indi-
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Anxiety disorders. ADHD shares symptoms of inattent ion with anxiety disorders. Indi- viduals with ADHD are inattentive because of their attraction to external stimuli, new activities, or preoccupation with enjoyable activities. This is distinguished from the inat- tention due to worry and rumination seen in anxiety disorders. Restlessness might be seen in anxiety disorders. Howeve r, in ADHD, the symptom is not associated with worry and rumination. Depressive disorders. Individuals with depressive diso rders may present with inabil- ity to concentrate. However, poor concentration in mood disorders becomes prominent only during a depressive episode. Bipolar disorder. Individuals with bipola r disorder may have increased activity, poor concentration, and increased impulsivity, bu t these features are episodic, occurring sev- eral days at a time. In bipolar disorder, increased impulsivity or inattention is accompa- nied by elevated mood, grandiosity, and ot her specific bipolar features. Children with ADHD may show significant changes in mood within the same day; such lability is dis- tinct from a manic episode, which must last 4 or more days to be a clinical indicator of bi- polar disorder, even in childre n. Bipolar disorder is rare in preadolescents, even when severe irritability and anger are prominent, whereas ADHD is common among children and adolescents who display excessive anger and irritability. Disruptive mood dysregulation disorder. Disruptive mood dysregulation disorder is characterized by pervasive irritability, and intolerance of frustratio n, but impulsiveness and disorganized attention are not essential features. However, most children and adoles- cents with the disorder have symptoms that also meet crit eria for ADHD, which is diag- nosed separately.
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nosed separately. Substance use disorders. Differentiating ADHD from su bstance use disorders may be problematic if the first presentation of ADHD symptoms follows the onset of abuse or fre- quent use. Clear evidence of ADHD before su bstance misuse from informants or previous records may be essential for differential diagnosis.
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Other Specified Attention-Deficit/Hyperactivity Disorder 65 Personality disorders. In adolescents and adults, it may be difficult to distinguish ADHD from borderline, narcissistic, and other person ality disorders. All these disorders tend to share the features of disorganization, social intrusiveness, emotional dysregulation, and cognitive dysregulation. Howe ver, ADHD is not characterized by fear of abandonment, self-injury, extreme ambivalence, or other fe atures of personality disorder. It may take extended clinical observation, informant interview, or detailed history to distinguish im- pulsive, socially intrusive, or inappropriate behavior from narcissist ic, aggressive, or dom- ineering behavior to make this differential diagnosis. Psychotic disorders. ADHD is not diagnosed if the symp toms of inattention and hyperac- tivity occur exclusively during the course of a psychotic disorder. Medication-induced symptoms of ADHD. Symptoms of inattention, hyperactivity, or impulsivity attributable to the use of medication (e.g., bron chodilators, isoniazid, neuro- leptics [resulting in akathisia], thyroid replacement medication) are diagnosed as other specified or unspecified other (or un known) substance–related disorders. Neurocognitive disorders. Early major neurocognitive disorder (dementia) and/or mild neurocognitive disorder are not known to be associated with ADHD but may present with similar clinical features. These conditions are distinguished from ADHD by their late onset. Comorbidity In clinical settings, comorbid disorders are frequent in individuals whose symptoms meet criteria for ADHD. In the general population, oppositional defiant di sorder co-occurs with ADHD in approximately half of children wi th the combined presentation and about a quarter with the predominantly inattentive presentation. Conduct disorder co-occurs in
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quarter with the predominantly inattentive presentation. Conduct disorder co-occurs in about a quarter of children or adolescents with the combined presentation, depending on age and setting. Most children and adolescent s with disruptive mood dysregulation dis- order have symptoms that also meet criteria for ADHD; a lesser percentage of children with ADHD have symptoms that meet criter ia for disruptive mood dysregulation disor- der. Specific learning disorder commonly co-occurs with ADHD. Anxiety disorders and major depressive disorder occur in a minority of individuals with ADHD but more often than in the general population. Intermittent explosive disorder occu rs in a minority of adults with ADHD, but at rates above population levels. Although substance use disor- ders are relatively more frequent among adul ts with ADHD in the general population, the disorders are present in only a minority of adults with AD HD. In adults, antisocial and other personality disorders may co-occur with ADHD. Other disorders that may co-occur with ADHD include obsessive-compulsive diso rder, tic disorders, and autism spectrum disorder. Other Specified Attention-Deficit/ Hyperactivity Disorder 314.01 (F90.8) This category applies to presentations in wh ich symptoms characteristic of attention- deficit/hyperactivity disorder that cause clinic ally significant distress or impairment in so- cial, occupational or other important areas of functioning predominate but do not meet the full criteria for attention-deficit/hyperactivity disorder or any of the disorders in the neuro- developmental disorders diagnostic class. The other specified attention-deficit/hyperactiv- ity disorder category is used in situations in which the clinician chooses to communicate
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66 Neurodevelopmental Disorders the specific reason that the presentation does not meet the criteria for attention-deficit/ hyperactivity disorder or any specific neur odevelopmental disorder. This is done by re- cording “other specified attention-deficit/hyperactivity disorder” followed by the specific reason (e.g., “with insufficient inattention symptoms”). Unspecified Attention-Deficit/ Hyperactivity Disorder 314.01 (F90.9) This category applies to presentations in wh ich symptoms characteristic of attention- deficit/hyperactivity disorder that cause clinic ally significant distress or impairment in so- cial, occupational, or other important areas of functioning predominate but do not meet the full criteria for attention-deficit/hyperactivity disorder or any of the disorders in the neuro- developmental disorders diagnostic class. The unspecified attention-deficit/hyperactivity disorder category is used in situations in which the clinician chooses not to specify the rea- son that the criteria are not met for attention- deficit/hyperactivity disorder or for a specific neurodevelopmental disorder, and includes presentations in which there is insufficient in- formation to make a more specific diagnosis. Specific Learning Disorder Specific Learning Disorder Diagnostic Criteria A. Difficulties learning and using academic skills, as indicated by the presence of at least one of the following symptoms that have persisted for at least 6 months, despite the provision of interventions that target those difficulties: 1. Inaccurate or slow and effortful word reading (e.g., reads single words aloud incor- rectly or slowly and hesitantly, frequently guesses words, has difficulty sounding out words). 2. Difficulty understanding the meaning of what is read (e.g., may read text accurately but not understand the sequence, relationships, inferences, or deeper meanings of what is read).
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what is read). 3. Difficulties with spelling (e.g., may add, omit, or substitute vowels or consonants). 4. Difficulties with written expression (e.g., makes multiple grammatical or punctua- tion errors within sentences; employs poor paragraph organization; written expres- sion of ideas lacks clarity). 5. Difficulties mastering number sense, number facts, or calculation (e.g., has poor understanding of numbers, their magnitude, and relationships; counts on fingers to add single-digit numbers instead of recalling the math fact as peers do; gets lost in the midst of arithmetic computation and may switch procedures). 6. Difficulties with mathematical reasoning (e.g., has severe difficulty applying math- ematical concepts, facts, or procedures to solve quantitative problems).
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Specific Learning Disorder 67 B. The affected academic skills are substantially and quantifiably below those expected for the individual’s chronological age, and cause significant interference with academic or occupational performance, or with activiti es of daily living, as confirmed by individu- ally administered standardized achievement measures and comprehensive clinical assessment. For individuals age 17 years and older, a documented history of impairing learning difficulties may be substituted for the standardized assessment. C. The learning difficulties begin during school-age years but may not become fully man- ifest until the demands for those affected academic skills exceed the individual’s lim- ited capacities (e.g., as in timed tests, reading or writing lengthy complex reports for a tight deadline, excessively heavy academic loads). D. The learning difficulties are not better accounted for by intellectual disabilities, uncor- rected visual or auditory acuity, other mental or neurological disorders, psychosocial adversity, lack of proficiency in the language of academic instruction, or inadequate educational instruction. Note: The four diagnostic criteria are to be met based on a clinical synthesis of the indi- vidual’s history (developmental, medical, fa mily, educational), school reports, and psycho- educational assessment. Coding note: Specify all academic domains and subskills that are impaired. When more than one domain is impaired, each one should be coded individually according to the fol- lowing specifiers. Specify if: 315.00 (F81.0) With impairment in reading: Word reading accuracy Reading rate or fluency Reading comprehension Note: Dyslexia is an alternative term used to refer to a pattern of learning difficulties characterized by problems with accurate or fluent word recognition, poor decoding, and poor spelling abilities. If dyslexia is used to specify this particular pattern of dif-
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and poor spelling abilities. If dyslexia is used to specify this particular pattern of dif- ficulties, it is important also to specify any additional difficulties that are present, such as difficulties with reading comprehension or math reasoning. 315.2 (F81.81) With impairme nt in written expression: Spelling accuracy Grammar and punctuation accuracy Clarity or organization of written expression 315.1 (F81.2) With impairment in mathematics: Number sense Memorization of arithmetic facts Accurate or fluent calculation Accurate math reasoning Note: Dyscalculia is an alternative term used to refer to a pattern of difficulties char- acterized by problems processing numerical information, learning arithmetic facts, and performing accurate or fluent calculations. If dyscalculia is used to specify this particular pattern of mathematic difficulties, it is important also to specify any addi- tional difficulties that are present, such as difficulties with math reasoning or word rea- soning accuracy. Specify current severity: Mild: Some difficulties learning skills in one or two academic domains, but of mild enough severity that the individual may be able to compensate or function well when provided with appropriate accommodations or support services, especially during the school years.
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68 Neurodevelopmental Disorders Moderate: Marked difficulties learning skills in one or more academic domains, so that the individual is unlikely to become proficient without some intervals of intensive and specialized teaching during the school years. Some accommodations or supportive services at least part of the day at school, in the workplace, or at home may be needed to complete activities accurately and efficiently. Severe: Severe difficulties learning skills, affecting several academic domains, so that the individual is unlikely to learn those skills without ongoing intensive individualized and specialized teaching for most of the school years. Even with an array of appropri- ate accommodations or services at home, at school, or in the workplace, the individual may not be able to complete all activities efficiently. Recording Procedures Each impaired academic domain and subskill of specific learning disorder should be re- corded. Because of ICD coding requirements, im pairments in reading, impairments in writ- ten expression, and impairments in mathematics, with their corresponding impairments in subskills, must be coded sepa rately. For example, impairments in reading and mathematics and impairments in the subskills of reading rate or fluency, reading comprehension, accu- rate or fluent calculation, and accurate math reasoning would be coded and recorded as 315.00 (F81.0) specific learning disorder with impairment in reading, with impairment in reading rate or fluency and impairment in reading comprehension; 315.1 (F81.2) specific learning disorder with impairment in mathemat ics, with impairment in accurate or fluent calculation and impairment in accurate math reasoning. Diagnostic Features Specific learning disorder is a neurodevelopmental disorder with a biological origin that is the basis for abnormalities at a cognitive level that are associated with the behavioral signs
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the basis for abnormalities at a cognitive level that are associated with the behavioral signs of the disorder. The biological origin includes an interaction of geneti c, epigenetic, and en- vironmental factors, which affect the brain’s ab ility to perceive or process verbal or non- verbal information efficiently and accurately. One essential feature of specific learning diso rder is persistent diff iculties learning key- stone academic skills (Criterion A), with onset duri ng the years of formal schooling (i.e., the de- velopmental period). Key academic skills incl ude reading of single words accurately and fluently, reading comprehension, written expression and spelling, arithmetic calculation, and mathematical reasoning (solving mathematical problems). In contrast to talking or walking, which are acquired developmenta l milestones that emerge wi th brain maturation, academic skills (e.g., reading, spelling, writing, mathematic s) have to be taught and learned explicitly. Specific learning disorder disrupts the normal pa ttern of learning academ ic skills; it is not sim- ply a consequence of lack of o pportunity of learning or inadeq uate instruction. Difficulties mastering these key academic skills may also impe de learning in other academic subjects (e.g., history, science, social studies) , but those problems are attributable to difficulties learning the underlying academic skills. Difficulties learning to map letters with the sounds of one’s lan- guage—to read printed words (often called dyslexia)—is one of the most common manifesta- tions of specific learning disord er. The learning difficulties manifest as a range of observable, descriptive behaviors or symptoms (as listed in Criteria A1–A6). These clinical symptoms may be observed, probed by means of the clinical interview, or ascert ained from school reports, rat-
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ing scales, or descriptions in previous educational or psychological assessments. The learning difficulties are persistent, not transitory. In ch ildren and adolescents, persistence is defined as restricted progress in learning (i.e., no evidence that the individual is catching up with class-
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difficulties are persistent, not transitory. In ch ildren and adolescents, persistence is defined as restricted progress in learning (i.e., no evidence that the individual is catching up with class- mates) for at least 6 months despite the provision of extra help at home or school. For example, difficulties learning to read si ngle words that do not fully or rapidly remit with the provision of instruction in phonological skills or word iden tification strategies may indicate a specific
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Specific Learning Disorder 69 learning disorder. Evidence of persistent learning difficulties may be derived from cumulative school reports, portfolios of the child’s evalua ted work, curriculum-based measures, or clinical interview. In adults, persistent difficulty refers to ongoing difficulties in literacy or numeracy skills that manifest during childhood or adol escence, as indicated by cumulative evidence from school reports, evaluated portfo lios of work, or previous assessments. A second key feature is that the individual’s performance of the affected academic skills is well below average for age (Criterion B). One robust clinical indicator of difficulties learning academic skills is low academic achievement for age or average achievement that is sustain- able only by extraordinarily high levels of effort or support. In children, the low academic skills cause significant interference in school performance (as indicated by school reports and teacher’s grades or ratings). Another clinical indicator, particularly in adults, is avoidance of activities that require the academic skills. Also in adulthood, low academic skills interfere with occupational performance or everyday activities requiring those skills (as indicated by self-re- port or report by others). However, this criterion also requires psycho metric evidence from an individually administered, psychometrically s ound and culturally appropriate test of aca- demic achievement that is norm -referenced or criter ion-referenced. Academic skills are dis- tributed along a continuum, so there is no natural cutpoint that can be used to differentiate individuals with and without spec ific learning disorder. Thus, any threshold used to specify what constitutes significantly low academic achi evement (e.g., academic skills well below age expectation) is to a large extent arbitrary. Lo w achievement scores on one or more standard- ized tests or subtests within an academic domain (i.e., at least 1.5 standard deviations [SD] be-
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low the population mean for age, which translates to a standard score of 78 or less, which is below the 7th percentile) are need ed for the greatest diagnostic certainty. However, precise scores will vary according to the particular standardized tests that are used. On the basis of clinical judgment, a more leni ent threshold may be used (e.g., 1.0–2.5 SD below the pop- ulation mean for age), when learning diffic ulties are supported by converging evidence from clinical assessment, academic history, school reports, or test scores. Moreover, since standardized tests are not available in all languages, the diagnosis may then be based in part on clinical judgment of sc ores on available test measures. A third core feature is that the learning di fficulties are readily apparent in the early school years in most individuals (Criterion C) . However, in others, the learning difficulties may not manifest fully until later school year s, by which time learning demands have in- creased and exceed the individual’s limited capacities. Another key diagnostic feature is that the learning difficulties are considered “spe- cific,” for four reasons. First, they are not attr ibutable to intellectual disabilities (intellec- tual disability [intellectual developmenta l disorder]); global developmental delay; hearing or vision disorders, or neurological or motor disorders) (Criterion D). Specific learning disorder affects lear ning in individuals who othe rwise demonstrate normal lev- els of intellectual functioning (generally estima ted by an IQ score of greater than about 70 [±5 points allowing for measurement error ]). The phrase “unexpected academic under- achievement” is often cited as the defining ch aracteristic of specific learning disorder in that the specific learning disabilities are not part of a more general learning difficulty as
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that the specific learning disabilities are not part of a more general learning difficulty as manifested in intellectual disability or global developmental delay. Specific learning dis-
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that the specific learning disabilities are not part of a more general learning difficulty as manifested in intellectual disability or global developmental delay. Specific learning dis- order may also occur in individuals identified as intellectually “gifted.” These individuals may be able to sustain apparently adequate academic functioning by using compensatory strategies, extraordinarily high effort, or su pport, until the learning demands or assess- ment procedures (e.g., timed tests) pose barri ers to their demonstrating their learning or accomplishing required tasks. Second, the lear ning difficulty cannot be attributed to more general external factors, such as economic or environmental disadvantage, chronic absen- teeism, or lack of education as typically prov ided in the individual’s community context. Third, the learning difficulty canno t be attributed to a neurol ogical (e.g., pediatric stroke) or motor disorders or to vision or hearing di sorders, which are often associated with prob- lems learning academic skills but are distinguishable by presence of neurological signs.
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70 Neurodevelopmental Disorders Finally, the learning difficulty may be restricted to one academic skill or domain (e.g., read- ing single words, retrieving or calculating number facts). Comprehensive assessment is required. Specifi c learning disorder can only be diagnosed after formal education starts bu t can be diagnosed at any point afterward in children, adoles- cents, or adults, providing there is evidence of onset during the years of formal schooling (i.e., the developmental period). No sing le data source is sufficient fo r a diagnosis of specific learn- ing disorder. Rather, specific learning disorder is a clinical diagnosis based on a synthesis of the individual’s medical, develo pmental, educational, and family history; the history of the learning difficulty, including it s previous and current manifestat ion; the impact of the diffi- culty on academic, occupational, or social functioning; previo us or current school reports; portfolios of work requiring academic skills; curriculum-based assessments; and previous or current scores from individual standardized test s of academic achievemen t. If an intellectual, sensory, neurological, or motor disorder is susp ected, then the clinical assessment for specific learning disorder should also include methods appropriate for these disorders. Thus, compre- hensive assessment will involve professionals with expertise in specific learning disorder and psychological/cognitive assessment. Since specific learning disorder typically persists into adulthood, reassessment is rarely necessary, un less indicated by marked changes in the learn- ing difficulties (amelioration or worsenin g) or requested for specific purposes. Associated Features Supporting Diagnosis Specific learning disorder is frequently but not invariably preceded, in preschool years, by delays in attention, language, or motor skills that may pers ist and co-occur with specific learning disorder. An uneven profile of abilities is common , such as above-average abili-
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learning disorder. An uneven profile of abilities is common , such as above-average abili- ties in drawing, design, and other visuospatial abilities, but slow, effortful, and inaccurate reading and poor reading comprehension and written expression. Individuals with spe- cific learning disorder typica lly (but not invariably) exhibit poor performance on psycho- logical tests of cognitive processing. However, it remains unclear whether these cognitive abnormalities are the caus e, correlate, or consequence of th e learning difficulties. Also, al- though cognitive deficits associated with diff iculties learning to read words are well doc- umented, those associated with other manifestations of specific learning disorder (e.g., reading comprehension, arithmetic computat ion, written expression) are underspecified or unknown. Moreover, individu als with similar behavioral sy mptoms or test scores are found to have a variety of cognitive deficits, and many of these processing deficits are also found in other neurodevelopmental disorders (e.g., attention-deficit/hyperactivity disor- der [ADHD], autistic spectrum disorder, communication diso rders, developmental coor- dination disorder). Thus, asses sment of cognitive processing deficits is not required for diagnostic assessment. Specific le arning disorder is associated with increased risk for sui- cidal ideation and suicide attempts in children, adolescents, and adults. There are no known biological markers of spec ific learning disorder. As a group, indi- viduals with the disorder show circumscribe d alterations in cognitive processing and brain structure and func tion. Genetic differences are also evident at the group level. But cognitive testing, neuroimaging, or genetic test ing are not useful for diagnosis at this time. Prevalence The prevalence of specific learning disorder across the academic domains of reading, writ-
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Prevalence The prevalence of specific learning disorder across the academic domains of reading, writ- ing, and mathematics is 5%–15% among school-age children across different languages and cultures. Prevalence in adults is unknown but appear s to be approximately 4%.
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ing, and mathematics is 5%–15% among school-age children across different languages and cultures. Prevalence in adults is unknown but appear s to be approximately 4%. Development and Course Onset, recognition, and diagnosis of specific learning disorder usually occurs during the elementary school years when children are requir ed to learn to read, sp ell, write, and learn
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Specific Learning Disorder 71 mathematics. However, precursors such as la nguage delays or defi cits, difficulties in rhyming or counting, or difficulties with fine motor skills required for writing commonly occur in early childhood before the start of formal schooling. Manifestations may be be- havioral (e.g., a reluctance to engage in le arning; oppositional beha vior). Specific learning disorder is lifelong, but the course and clinical expression are variable, in part depending on the interactions among the task demands of the environment, the range and severity of the individual’s learning difficulties, the indi vidual’s learning abilities, comorbidity, and the available support systems and intervention . Nonetheless, problems with reading flu- ency and comprehension, spelling, written expr ession, and numeracy sk ills in everyday life typically persist into adulthood. Changes in manifestation of symptoms occur with age, so that an individual may have a persistent or shifting array of learning difficulties across the lifespan. Examples of symptoms that may be observed among preschool-age children include a lack of interest in playing games with language s ounds (e.g., repetition, rhyming), and they may have trouble learning nursery rhymes. Preschool children with sp ecific learning disorder may frequently use baby talk, mispronounce words, and have trouble remembering names of let- ters, numbers, or days of the week. They may fa il to recognize letters in their own names and have trouble learning to count. Kindergarten-age children with specific learning disorder may be unable to recognize and write letters, may be unable to write their own names, or may use invented spelling. They may have trouble brea king down spoken words into syllables (e.g.,
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“cowboy” into “cow” and “boy”) and trouble reco gnizing words that rhyme (e.g., cat, bat, hat). Kindergarten-age children also may have trouble connecting letters with their sounds (e.g., let- ter b makes the sound /b/) and may be unable to recognize phonemes (e.g., do not know which in a set of words [e.g., dog, man, car] starts with the same sound as “cat”). Specific learning disorder in elementary school–age children typically manifests as marked difficulty learning letter-sound corres pondence (particularly in English-speaking children), fluent word decoding, spelling, or ma th facts; reading aloud is slow, inaccurate, and effortful, and some childr en struggle to understand the magnitude that a spoken or written number represents. Children in prim ary grades (grades 1–3) may continue to have problems recognizing and manipulating phon emes, be unable to read common one-sylla- ble words (such as mat or top), and be un able recognize common irregularly spelled words (e.g., said, two). They may commit read ing errors that indicate problems in con- necting sounds and letters (e.g., “big” for “g ot”) and have difficult y sequencing numbers and letters. Children in grades 1-3 also may have difficulty remembering number facts or arithmetic procedures for addi ng, subtracting, and so forth, and may complain that read- ing or arithmetic is hard and avoid doing it. Ch ildren with specific learning disorder in the middle grades (grades 4–6) may mispronounce or skip parts of long, multisyllable words (e.g., say “conible” for “convertible,” “aminal” for “animal”) and confuse words that
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sound alike (e.g., “tornado” for “volcano”) . They may have trouble remembering dates, names, and telephone numbers and may have trouble completing homework or tests on time. Children in the middle grades also may have poor comprehension with or without slow, effortful, and inaccurate reading, and they may have trouble reading small function words (e.g., that, the, an, in). They may ha ve very poor spelling and poor written work. They may get the first part of a word correctly , then guess wildly (e.g., read “clover” as “clock”), and may express fear of read ing aloud or refuse to read aloud.
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They may get the first part of a word correctly , then guess wildly (e.g., read “clover” as “clock”), and may express fear of read ing aloud or refuse to read aloud. By contrast, adolescents may have mastered word decoding, but reading remains slow and effortful, and they are likely to show ma rked problems in reading comprehension and written expression (including poor spelling) and poor master y of math facts or mathemat- ical problem solving. During adolescence an d into adulthood, indi viduals with specific learning disorder may continue to make nu merous spelling mistakes and read single words and connected text slowly and with mu ch effort, with trou ble pronouncing multi- syllable words. They may frequently need to reread material to understand or get the main point and have trouble making inferences fr om written text. Adolescents and adults may
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72 Neurodevelopmental Disorders avoid activities that demand reading or arit hmetic (reading for pl easure, reading instruc- tions). Adults with specific learning disord er have ongoing spelling problems, slow and effortful reading, or problems making impo rtant inferences from numerical information in work-related written documents. They ma y avoid both leisure and work-related activ- ities that demand reading or writing or use alternative approaches to access print (e.g., text-to-speech/speech-to-text softwa re, audiobooks, audiovisual media). An alternative clinical expression is that of circumscribed learning difficulties that per- sist across the lifespan, such as an inability to master the basic sense of number (e.g., to know which of a pair of number s or dots represents the larger magnitude), or lack of pro- ficiency in word identification or spelling. Av oidance of or reluctance to engage in activi- ties requiring academic skills is common in ch ildren, adolescents, and adults. Episodes of severe anxiety or anxiety disorders, including somatic complaints or panic attacks, are common across the lifespan and accompany both the circumscribed and the broader ex- pression of learning difficulties. Risk and Prognostic Factors Environmental. Prematurity or very low birth weight increases the risk for specific learning disorder, as does pr enatal exposure to nicotine. Genetic and physiological. Specific learning disorder a ppears to aggregate in families, particularly when affecting reading, mathemat ics, and spelling. The relative risk of spe- cific learning disorder in reading or mathematics is substantially higher (e.g., 4–8 times and 5–10 times higher, respectively) in first- degree relatives of individuals with these learning difficulties compared with those wi thout them. Family hist ory of reading diffi-
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learning difficulties compared with those wi thout them. Family hist ory of reading diffi- culties (dyslexia) and parental literacy skills predict literacy problems or specific learning disorder in offspring, indicating the combin ed role of genetic and environmental factors. There is high heritability for both reading ab ility and reading disability in alphabetic and nonalphabetic languages, including high heritabi lity for most manifestations of learning abil- ities and disabilities (e.g., heritability estimate values greater than 0. 6). Covariation between various manifestations of learning difficulties is high, suggesting that genes related to one presentation are highly co rrelated with genes related to another manifestation. Course modifiers. Marked problems with inattentive be havior in preschool years is pre- dictive of later difficulties in reading and ma thematics (but not necessarily specific learn- ing disorder) and nonresponse to effective academic interventions. Delay or disorders in speech or language, or impaired cognitive processing (e.g., phonological awareness, working memory, rapid serial naming) in presch ool years, predicts la ter specific learning disorder in reading and writ ten expression. Comorbidity wi th ADHD is predictive of worse mental health outcome than that associ ated with specific learning disorder without ADHD. Systematic, intensive, individualized instruction, using evidence-based interven- tions, may improve or ameliorate the learning difficulties in some individuals or promote the use of compensatory strategies in others , thereby mitigating the otherwise poor out- comes. Culture-Related Diagnostic Issues Specific learning disorder oc curs across languages, cultures, races, and socioeconomic conditions but may vary in its manifestation according to the nature of the spoken and written symbol systems and cultural and educational practices. For example, the cognitive
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written symbol systems and cultural and educational practices. For example, the cognitive processing requirements of reading and of wo rking with numbers vary greatly across or- thographies. In the English language, the observable hallmark clinical symptom of diffi- culties learning to read is inaccurate and slow reading of single words; in other alphabetic
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thographies. In the English language, the observable hallmark clinical symptom of diffi- culties learning to read is inaccurate and slow reading of single words; in other alphabetic languages that have more direct mapping be tween sounds and letters (e.g., Spanish, Ger- man) and in non-alphabetic la nguages (e.g., Chinese, Japanese), the hallmark feature is
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Specific Learning Disorder 73 slow but accurate reading. In English-language learners, assessment should include con- sideration of whether the source of reading difficulties is a limited proficiency with Eng- lish or a specific learning disorder. Risk fact ors for specific learning disorder in English- language learners include a family history of specific learning disorder or language delay in the native language, as well as learning difficulties in English and failure to catch up with peers. If there is suspicio n of cultural or language differences (e.g., as in an English- language learner), the assessment needs to ta ke into account the individual’s language proficiency in his or her first or native lang uage as well as in the second language (in this example, English). Also, assessment should co nsider the linguistic and cultural context in which the individual is living, as well as his or her educational and learning history in the original culture and language. Gender-Related Diagnostic Issues Specific learning disorder is more common in males than in fema les (ratios range from about 2:1 to 3:1) and cannot be attributed to factors such as ascertainment bias, definitional or measurement variation, language , race, or socioeconomic status. Functional Consequences of Specific Learning Disorder Specific learning disorder can have negative functional consequences across the lifespan, including lower academic attainment, higher ra tes of high school dropout, lower rates of postsecondary education, high levels of psyc hological distress and poorer overall mental health, higher rates of unemployment and under-employment, and lower incomes. School dropout and co-occurring depressive symptoms increase the risk for poor mental health outcomes, including suicidality, whereas high levels of social or emotional support predict better mental health outcomes. Differential Diagnosis Normal variations in academic attainment. Specific learning disorder is distinguished
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Differential Diagnosis Normal variations in academic attainment. Specific learning disorder is distinguished from normal variations in academic attainment due to external factors (e.g., lack of edu- cational opportunity, consistently poor instru ction, learning in a second language), be- cause the learning difficulties persist in the presence of adequate educational opportunity and exposure to the same instruction as the p eer group, and competency in the language of instruction, even when it is different from one’s primary spoken language. Intellectual disability (intelle ctual developmental disorder). Specific learning disorder differs from general learning difficulties assoc iated with intellectual disability, because the learning difficulties occur in the presence of normal levels of intellectual functioning (i.e., IQ score of at least 70 ± 5). If intellectual disa bility is present, specific learning disorder can be diagnosed only when the learning difficult ies are in excess of those usually associated with the intellectual disability. Learning difficulties due to neurological or sensory disorders. Specific learning dis- order is distinguished from lear ning difficulties due to neurological or sensory disorders (e.g., pediatric stroke, traumatic brain injury , hearing impairment, vi sion impairment), be- cause in these cases there are abnormal findings on neurological examination. Neurocognitive disorders. Specific learning disorder is distinguished from learning problems associated with neurodegenerative cognitive disorders, because in specific learning disorder the clinical expression of specific learning difficulties occurs during the developmental period, and the difficulties do not manifest as a mark ed decline from a for- mer state.
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74 Neurodevelopmental Disorders Attention-deficit/hyperactivity disorder. Specific learning disorder is distinguished from the poor academic performance associated with ADHD, because in the latter condition the problems may not necessarily reflect specific difficulties in learning academic skills but rather may reflect difficulties in performing those skills. However, the co-occurrence of specific learning disorder and ADHD is more fr equent than expected by chance. If criteria for both disorders are met, both diagnoses can be given. Psychotic disorders. Specific learning disorder is dist inguished from the academic and cognitive-processing difficulties associated wi th schizophrenia or psychosis, because with these disorders there is a decline (often rapid) in these functional domains. Comorbidity Specific learning disorder commonly co-occ urs with neurodevelopmental (e.g., ADHD, communication disorders, developmental coordi nation disorder, autistic spectrum disor- der) or other mental disorders (e.g., anxiety disorders, depressive and bipolar disorders). These comorbidities do not necessarily exclud e the diagnosis specific learning disorder but may make testing and differential diagnosis more difficult, because each of the co- occurring disorders independentl y interferes with the executio n of activities of daily liv- ing, including learning. Thus, clinical judgment is required to attrib ute such impairment to learning difficulties. If there is an indication that another diagnosis could account for the difficulties learning keystone academic skills described in Criterion A, specific learning disorder should not be diagnosed. Motor Disorders Developmental Coordination Disorder Diagnostic Criteria 315.4 (F82) A. The acquisition and execution of coordinated motor skills is substantially below that ex- pected given the individual’s chronological age and opportunity for skill learning and use. Difficulties are manifested as clumsi ness (e.g., dropping or bumping into objects)
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as well as slowness and inaccuracy of performance of motor skills (e.g., catching an object, using scissors or cutlery, handwriting, riding a bike, or participating in sports). B. The motor skills deficit in Criterion A significantly and persistently interferes with activ- ities of daily living appropriate to chronological age (e.g., self-care and self-mainte- nance) and impacts academic/school pr oductivity, prevocational and vocational activities, leisure, and play. C. Onset of symptoms is in the early developmental period. D. The motor skills deficits are not better explained by intellectual disability (intellectual devel- opmental disorder) or visual impairment and are not attributable to a neurological condi- tion affecting movement (e.g., cerebral palsy, muscular dystrophy, degenerative disorder). Diagnostic Features The diagnosis of developmental coordination diso rder is made by a clinical synthesis of the history (developmental and medical), physical ex amination, school or workplace report, and individual assessment using psychometrically sound and culturally appropriate standardized tests. The manifestation of impaired skills re quiring motor coordination (Criterion A) varies
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Developmental Coordination Disorder 75 with age. Young children may be delayed in achi eving motor milestones (i.e., sitting, crawling, walking), although many achieve typical motor milestones. They also may be delayed in de- veloping skills such as negotiating stairs, peda ling, buttoning shirts, completing puzzles, and using zippers. Even when the skill is achiev ed, movement executio n may appear awkward, slow, or less precise than that of peers. Older children and adults may display slow speed or in- accuracy with motor aspects of activities such as assembling puzzles, building models, playing ball games (especially in teams), handwriting, ty ping, driving, or carrying out self-care skills. Developmental coordination di sorder is diagnosed only if the impairment in motor skills significantly interferes with the performanc e of, or participation in, daily activities in family, social, school, or community life (Criteri on B). Examples of such activities include getting dressed, eating meals with age-appropriate utensils and without mess, engaging in physical games with others, using specific t ools in class such as rulers and scissors, and participating in team exercise activities at sc hool. Not only is ability to perform these ac- tions impaired, but also marked slowness in execution is common. Handwriting compe- tence is frequently affected, consequently affe cting legibility and/or speed of written output and affecting academic achievement (the impact is distinguished from specific learning difficulty by the emphasis on the motoric comp onent of written output skills). In adults, everyday skills in education and work, especially those in which speed and accuracy are required, are affected by coordination problems. Criterion C states that the onset of sympto ms of developmental coordination disorder must be in the early developmental period. However, developmental coordination disorder is
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must be in the early developmental period. However, developmental coordination disorder is typically not diagnosed before age 5 years because there is considerable variation in the age at acquisition of many motor skills or a lack of st ability of measurement in early childhood (e.g., some children catch up) or because other causes of motor delay may not have fully manifested. Criterion D specifies that the diagnosis of developmental coordination disorder is made if the coordination difficulties are not better explained by visual impairment or at- tributable to a neurological condition. Thus, visual functi on examination and neurological examination must be included in the diagnost ic evaluation. If intellectual disability (intel- lectual developmental disorder) is present, the motor difficulties are in excess of those ex- pected for the mental age; ho wever, no IQ cut-off or disc repancy criterion is specified. Developmental coordination disorder does no t have discrete subtypes; however, indi- viduals may be impaired predominantly in gro ss motor skills or in fine motor skills, in- cluding handwriting skills. Other terms used to describe developm ental coordination disorder include childhood dyspraxia, specific developmental disorder of motor function, and clumsy child syndrome. Associated Features Supporting Diagnosis Some children with developmental coordination disorder sh ow additional (usually sup- pressed) motor activity, such as choreiform movements of unsupported limbs or mirror movements. These “overflow” movements are referred to as neurodevelopment al immaturities or neurological soft signs rather than neurological abnormalit ies. In both current literature and clinical practice, their role in diagnosis is still unclear, requiring further evaluation. Prevalence The prevalence of developmental coordination disorder in children ages 5–11 years is 5%– 6% (in children age 7 years, 1.8% are diagnosed with severe developmental coordination
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disorder and 3% with probable developmental coordination disorder). Males are more of- ten affected than females, with a male:female ratio between 2:1 and 7:1.
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disorder and 3% with probable developmental coordination disorder). Males are more of- ten affected than females, with a male:female ratio between 2:1 and 7:1. Development and Course The course of developmental coordination disord er is variable but stable at least to 1 year follow-up. Although there may be improvement in the longer term, problems with coor-
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76 Neurodevelopmental Disorders dinated movements continue th rough adolescence in an esti mated 50%–70% of children. Onset is in early childhood. Delayed motor mile stones may be the first signs, or the disor- der is first recognized when the child attempts tasks such as holding a knife and fork, but- toning clothes, or playing ball games. In middle childhood, there are difficulties with motor aspects of assembling puzzles, building models, playing ball, and handwriting, as well as with organizing belongings, when mo tor sequencing and co ordination are re- quired. In early adulthood, there is continuing difficulty in learning new tasks involving complex/automatic motor skills, including drivin g and using tools. Inability to take notes and handwrite quickly may affect performance in the workplace. Co-occurrence with other disorders (see the sectio n “Comorbidity” for this disorder) has an additional impact on presentation, course, and outcome. Risk and Prognostic Factors Environmental. Developmental coordination disorder is more common following pre- natal exposure to alcohol and in pr eterm and low-birth-weight children. Genetic and physiological. Impairments in underlying neurodevelopmental processes— particularly in visual-motor sk ills, both in visual-motor perception and spatial mentalizing— have been found and affect the ability to make rapid motoric adjustments as the complexity of the required movements increases. Cerebellar dysfunction has been proposed, but the neural basis of developmental coordination disorder remains unclear. Because of the co-occurrence of developmental coordination disorder with atte ntion-deficit/hyperactiv ity disorder (ADHD), specific learning disabilities, and autism spectr um disorder, shared genetic effect has been pro- posed. However, consistent co-occurrence in twins appears only in severe cases.
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