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Although genetic technology allows clinical geneticists to link an estimated 40% of cases to genetic causes, consensus guidelines in the US and UK are limited to high-resolution chromosome and fragile X testing.[SEP]A genotype-first model of diagnosis has been proposed, which would routinely assess the genome's copy number variations.
A genotype-first model of diagnosis has been proposed, which would routinely assess the genome's copy number variations.[SEP]As new genetic tests are developed several ethical, legal, and social issues will emerge.
As new genetic tests are developed several ethical, legal, and social issues will emerge.[SEP]Commercial availability of tests may precede adequate understanding of how to use test results, given the complexity of autism's genetics.
Commercial availability of tests may precede adequate understanding of how to use test results, given the complexity of autism's genetics.[SEP]Metabolic and neuroimaging tests are sometimes helpful, but are not routine.
Metabolic and neuroimaging tests are sometimes helpful, but are not routine.[SEP]ASD can sometimes be diagnosed by age 14 months, although diagnosis becomes increasingly stable over the first three years of life: for example, a one-year-old who meets diagnostic criteria for ASD is less likely than a three-year-old to continue to do so a few years later.
ASD can sometimes be diagnosed by age 14 months, although diagnosis becomes increasingly stable over the first three years of life: for example, a one-year-old who meets diagnostic criteria for ASD is less likely than a three-year-old to continue to do so a few years later.[SEP]In the UK the National Autism Plan for Children recommends at most 30 weeks from first concern to completed diagnosis and assessment, though few cases are handled that quickly in practice.
In the UK the National Autism Plan for Children recommends at most 30 weeks from first concern to completed diagnosis and assessment, though few cases are handled that quickly in practice.[SEP]Although the symptoms of autism and ASD begin early in childhood, they are sometimes missed; years later, adults may seek diagnoses to help them or their friends and family understand themselves, to help their employers make adjustments, or in some locations to claim disability living allowances or other benefits.
Although the symptoms of autism and ASD begin early in childhood, they are sometimes missed; years later, adults may seek diagnoses to help them or their friends and family understand themselves, to help their employers make adjustments, or in some locations to claim disability living allowances or other benefits.[SEP]Signs of autism may be more challenging for clinicians to detect in females.
Signs of autism may be more challenging for clinicians to detect in females.[SEP]Autistic females have been shown to engage in masking more frequently than autistic males.
Autistic females have been shown to engage in masking more frequently than autistic males.[SEP]Masking may include making oneself perform normative facial expressions and eye contact.
Masking may include making oneself perform normative facial expressions and eye contact.[SEP]A notable percentage of autistic females may be misdiagnosed, diagnosed after a considerable delay, or not diagnosed at all.
A notable percentage of autistic females may be misdiagnosed, diagnosed after a considerable delay, or not diagnosed at all.[SEP]Conversely, the cost of screening and diagnosis and the challenge of obtaining payment can inhibit or delay diagnosis.
Conversely, the cost of screening and diagnosis and the challenge of obtaining payment can inhibit or delay diagnosis.[SEP]It is particularly hard to diagnose autism among the visually impaired, partly because some of its diagnostic criteria depend on vision, and partly because autistic symptoms overlap with those of common blindness syndromes or blindisms.
It is particularly hard to diagnose autism among the visually impaired, partly because some of its diagnostic criteria depend on vision, and partly because autistic symptoms overlap with those of common blindness syndromes or blindisms.[SEP]Classification Autism is one of the five pervasive developmental disorders (PDD), which are characterized by widespread abnormalities of social interactions and communication, severely restricted interests, and highly repetitive behavior.
Classification Autism is one of the five pervasive developmental disorders (PDD), which are characterized by widespread abnormalities of social interactions and communication, severely restricted interests, and highly repetitive behavior.[SEP]These symptoms do not imply sickness, fragility, or emotional disturbance.
These symptoms do not imply sickness, fragility, or emotional disturbance.[SEP]Of the five PDD forms, Asperger syndrome is closest to autism in signs and likely causes; Rett syndrome and childhood disintegrative disorder share several signs with autism, but may have unrelated causes; PDD not otherwise specified (PDD-NOS; also called atypical autism) is diagnosed when the criteria are not met for a more specific disorder.
Of the five PDD forms, Asperger syndrome is closest to autism in signs and likely causes; Rett syndrome and childhood disintegrative disorder share several signs with autism, but may have unrelated causes; PDD not otherwise specified (PDD-NOS; also called atypical autism) is diagnosed when the criteria are not met for a more specific disorder.[SEP]Unlike with autism, people with Asperger syndrome have no substantial delay in language development.
Unlike with autism, people with Asperger syndrome have no substantial delay in language development.[SEP]The terminology of autism can be bewildering, with autism, Asperger syndrome and PDD-NOS often called the autism spectrum disorders (ASD) or sometimes the autistic disorders, whereas autism itself is often called autistic disorder, childhood autism, or infantile autism.
The terminology of autism can be bewildering, with autism, Asperger syndrome and PDD-NOS often called the autism spectrum disorders (ASD) or sometimes the autistic disorders, whereas autism itself is often called autistic disorder, childhood autism, or infantile autism.[SEP]In this article, autism refers to the classic autistic disorder; in clinical practice, though, autism, ASD, and PDD are often used interchangeably.
In this article, autism refers to the classic autistic disorder; in clinical practice, though, autism, ASD, and PDD are often used interchangeably.[SEP]ASD, in turn, is a subset of the broader autism phenotype, which describes individuals who may not have ASD but do have autistic-like traits, such as avoiding eye contact.
ASD, in turn, is a subset of the broader autism phenotype, which describes individuals who may not have ASD but do have autistic-like traits, such as avoiding eye contact.[SEP]Research into causes has been hampered by the inability to identify biologically meaningful subgroups within the autistic population and by the traditional boundaries between the disciplines of psychiatry, psychology, neurology and pediatrics.
Research into causes has been hampered by the inability to identify biologically meaningful subgroups within the autistic population and by the traditional boundaries between the disciplines of psychiatry, psychology, neurology and pediatrics.[SEP]Newer technologies such as fMRI and diffusion tensor imaging can help identify biologically relevant phenotypes (observable traits) that can be viewed on brain scans, to help further neurogenetic studies of autism; one example is lowered activity in the fusiform face area of the brain, which is associated with impaired perception of people versus objects.
Newer technologies such as fMRI and diffusion tensor imaging can help identify biologically relevant phenotypes (observable traits) that can be viewed on brain scans, to help further neurogenetic studies of autism; one example is lowered activity in the fusiform face area of the brain, which is associated with impaired perception of people versus objects.[SEP]It has been proposed to classify autism using genetics as well as behavior.
It has been proposed to classify autism using genetics as well as behavior.[SEP](For more, see Brett Abrahams, geneticist and neuroscientist)
(For more, see Brett Abrahams, geneticist and neuroscientist)[SEP]Spectrum Autism has long been thought to cover a wide spectrum, ranging from individuals with severe impairments—who may be silent, developmentally disabled, and prone to frequent repetitive behavior such as hand flapping and rocking—to high functioning individuals who may have active but distinctly odd social approaches, narrowly focused interests, and verbose, pedantic communication.
Spectrum Autism has long been thought to cover a wide spectrum, ranging from individuals with severe impairments—who may be silent, developmentally disabled, and prone to frequent repetitive behavior such as hand flapping and rocking—to high functioning individuals who may have active but distinctly odd social approaches, narrowly focused interests, and verbose, pedantic communication.[SEP]Because the behavior spectrum is continuous, boundaries between diagnostic categories are necessarily somewhat arbitrary.
Because the behavior spectrum is continuous, boundaries between diagnostic categories are necessarily somewhat arbitrary.[SEP]Screening About half of parents of children with ASD notice their child's unusual behaviors by age 18 months, and about four-fifths notice by age 24 months.
Screening About half of parents of children with ASD notice their child's unusual behaviors by age 18 months, and about four-fifths notice by age 24 months.[SEP]According to an article, failure to meet any of the following milestones "is an absolute indication to proceed with further evaluations.
According to an article, failure to meet any of the following milestones "is an absolute indication to proceed with further evaluations.[SEP]Delay in referral for such testing may delay early diagnosis and treatment and affect the long-term outcome".
Delay in referral for such testing may delay early diagnosis and treatment and affect the long-term outcome".[SEP]No response to name (or eye-to-eye gaze) by 6 months.
No response to name (or eye-to-eye gaze) by 6 months.[SEP]No babbling by 12 months.
No babbling by 12 months.[SEP]No gesturing (pointing, waving, etc.) by 12 months.
No gesturing (pointing, waving, etc.) by 12 months.[SEP]No single words by 16 months.
No single words by 16 months.[SEP]No two-word (spontaneous, not just echolalic) phrases by 24 months.
No two-word (spontaneous, not just echolalic) phrases by 24 months.[SEP]Loss of any language or social skills, at any age.
Loss of any language or social skills, at any age.[SEP]The United States Preventive Services Task Force in 2016 found it was unclear if screening was beneficial or harmful among children in whom there is no concern.
The United States Preventive Services Task Force in 2016 found it was unclear if screening was beneficial or harmful among children in whom there is no concern.[SEP]The Japanese practice is to screen all children for ASD at 18 and 24 months, using autism-specific formal screening tests.
The Japanese practice is to screen all children for ASD at 18 and 24 months, using autism-specific formal screening tests.[SEP]In contrast, in the UK, children whose families or doctors recognize possible signs of autism are screened.
In contrast, in the UK, children whose families or doctors recognize possible signs of autism are screened.[SEP]It is not known which approach is more effective.
It is not known which approach is more effective.[SEP]It may be more accurate to precede these tests with a broadband screener that does not distinguish ASD from other developmental disorders.
It may be more accurate to precede these tests with a broadband screener that does not distinguish ASD from other developmental disorders.[SEP]Screening tools designed for one culture's norms for behaviors like eye contact may be inappropriate for a different culture.
Screening tools designed for one culture's norms for behaviors like eye contact may be inappropriate for a different culture.[SEP]Although genetic screening for autism is generally still impractical, it can be considered in some cases, such as children with neurological symptoms and dysmorphic features.
Although genetic screening for autism is generally still impractical, it can be considered in some cases, such as children with neurological symptoms and dysmorphic features.[SEP]Some authors suggest that automatic motor assessment could be useful to screen the children with ASD for instance with behavioural motor and emotionals reactions during smartphone watching.
Some authors suggest that automatic motor assessment could be useful to screen the children with ASD for instance with behavioural motor and emotionals reactions during smartphone watching.[SEP]Prevention While infection with rubella during pregnancy causes fewer than 1% of cases of autism, vaccination against rubella can prevent many of those cases.
Prevention While infection with rubella during pregnancy causes fewer than 1% of cases of autism, vaccination against rubella can prevent many of those cases.[SEP]The main goals when treating autistic children are to lessen associated deficits and family distress, and to increase quality of life and functional independence.
The main goals when treating autistic children are to lessen associated deficits and family distress, and to increase quality of life and functional independence.[SEP]In general, higher IQs are correlated with greater responsiveness to treatment and improved treatment outcomes.
In general, higher IQs are correlated with greater responsiveness to treatment and improved treatment outcomes.[SEP]No single treatment is best and treatment is typically tailored to the child's needs.
No single treatment is best and treatment is typically tailored to the child's needs.[SEP]Families and the educational system are the main resources for treatment.
Families and the educational system are the main resources for treatment.[SEP]Services should be carried out by behavior analysts, special education teachers, speech pathologists, and licensed psychologists.
Services should be carried out by behavior analysts, special education teachers, speech pathologists, and licensed psychologists.[SEP]Studies of interventions have methodological problems that prevent definitive conclusions about efficacy.
Studies of interventions have methodological problems that prevent definitive conclusions about efficacy.[SEP]However, the development of evidence-based interventions has advanced in recent years.
However, the development of evidence-based interventions has advanced in recent years.[SEP]Although many psychosocial interventions have some positive evidence, suggesting that some form of treatment is preferable to no treatment, the methodological quality of systematic reviews of these studies has generally been poor, their clinical results are mostly tentative, and there is little evidence for the relative effectiveness of treatment options.
Although many psychosocial interventions have some positive evidence, suggesting that some form of treatment is preferable to no treatment, the methodological quality of systematic reviews of these studies has generally been poor, their clinical results are mostly tentative, and there is little evidence for the relative effectiveness of treatment options.[SEP]Intensive, sustained special education programs and behavior therapy early in life can help children acquire self-care, communication, and job skills, and often improve functioning and decrease symptom severity and maladaptive behaviors; claims that intervention by around age three years is crucial are not substantiated.
Intensive, sustained special education programs and behavior therapy early in life can help children acquire self-care, communication, and job skills, and often improve functioning and decrease symptom severity and maladaptive behaviors; claims that intervention by around age three years is crucial are not substantiated.[SEP]While medications have not been found to help with core symptoms, they may be used for associated symptoms, such as irritability, inattention, or repetitive behavior patterns.
While medications have not been found to help with core symptoms, they may be used for associated symptoms, such as irritability, inattention, or repetitive behavior patterns.[SEP]Education Educational interventions often used include applied behavior analysis (ABA), developmental models, structured teaching, speech and language therapy, social skills therapy, and occupational therapy and cognitive behavioral interventions in adults without intellectual disability to reduce depression, anxiety, and obsessive-compulsive disorder.
Education Educational interventions often used include applied behavior analysis (ABA), developmental models, structured teaching, speech and language therapy, social skills therapy, and occupational therapy and cognitive behavioral interventions in adults without intellectual disability to reduce depression, anxiety, and obsessive-compulsive disorder.[SEP]Among these approaches, interventions either treat autistic features comprehensively, or focalize treatment on a specific area of deficit.
Among these approaches, interventions either treat autistic features comprehensively, or focalize treatment on a specific area of deficit.[SEP]The quality of research for early intensive behavioral intervention (EIBI)—a treatment procedure incorporating over thirty hours per week of the structured type of ABA that is carried out with very young children—is currently low, and more vigorous research designs with larger sample sizes are needed.
The quality of research for early intensive behavioral intervention (EIBI)—a treatment procedure incorporating over thirty hours per week of the structured type of ABA that is carried out with very young children—is currently low, and more vigorous research designs with larger sample sizes are needed.[SEP]Two theoretical frameworks outlined for early childhood intervention include structured and naturalistic ABA interventions, and developmental social pragmatic models (DSP).
Two theoretical frameworks outlined for early childhood intervention include structured and naturalistic ABA interventions, and developmental social pragmatic models (DSP).[SEP]One interventional strategy utilizes a parent training model, which teaches parents how to implement various ABA and DSP techniques, allowing for parents to disseminate interventions themselves.
One interventional strategy utilizes a parent training model, which teaches parents how to implement various ABA and DSP techniques, allowing for parents to disseminate interventions themselves.[SEP]Various DSP programs have been developed to explicitly deliver intervention systems through at-home parent implementation.
Various DSP programs have been developed to explicitly deliver intervention systems through at-home parent implementation.[SEP]Despite the recent development of parent training models, these interventions have demonstrated effectiveness in numerous studies, being evaluated as a probable efficacious mode of treatment.
Despite the recent development of parent training models, these interventions have demonstrated effectiveness in numerous studies, being evaluated as a probable efficacious mode of treatment.[SEP]Early, intensive ABA therapy has demonstrated effectiveness in enhancing communication and adaptive functioning in preschool children; it is also well-established for improving the intellectual performance of that age group.
Early, intensive ABA therapy has demonstrated effectiveness in enhancing communication and adaptive functioning in preschool children; it is also well-established for improving the intellectual performance of that age group.[SEP]Similarly, a teacher-implemented intervention that utilizes a more naturalistic form of ABA combined with a developmental social pragmatic approach has been found to be beneficial in improving social-communication skills in young children, although there is less evidence in its treatment of global symptoms.
Similarly, a teacher-implemented intervention that utilizes a more naturalistic form of ABA combined with a developmental social pragmatic approach has been found to be beneficial in improving social-communication skills in young children, although there is less evidence in its treatment of global symptoms.[SEP]Neuropsychological reports are often poorly communicated to educators, resulting in a gap between what a report recommends and what education is provided.
Neuropsychological reports are often poorly communicated to educators, resulting in a gap between what a report recommends and what education is provided.[SEP]It is not known whether treatment programs for children lead to significant improvements after the children grow up, and the limited research on the effectiveness of adult residential programs shows mixed results.
It is not known whether treatment programs for children lead to significant improvements after the children grow up, and the limited research on the effectiveness of adult residential programs shows mixed results.[SEP]The appropriateness of including children with varying severity of autism spectrum disorders in the general education population is a subject of current debate among educators and researchers.
The appropriateness of including children with varying severity of autism spectrum disorders in the general education population is a subject of current debate among educators and researchers.[SEP]Medication Medications may be used to treat ASD symptoms that interfere with integrating a child into home or school when behavioral treatment fails.
Medication Medications may be used to treat ASD symptoms that interfere with integrating a child into home or school when behavioral treatment fails.[SEP]They may also be used for associated health problems, such as ADHD or anxiety.
They may also be used for associated health problems, such as ADHD or anxiety.[SEP]More than half of US children diagnosed with ASD are prescribed psychoactive drugs or anticonvulsants, with the most common drug classes being antidepressants, stimulants, and antipsychotics.
More than half of US children diagnosed with ASD are prescribed psychoactive drugs or anticonvulsants, with the most common drug classes being antidepressants, stimulants, and antipsychotics.[SEP]The atypical antipsychotic drugs risperidone and aripiprazole are FDA-approved for treating associated aggressive and self-injurious behaviors.
The atypical antipsychotic drugs risperidone and aripiprazole are FDA-approved for treating associated aggressive and self-injurious behaviors.[SEP]However, their side effects must be weighed against their potential benefits, and autistic people may respond atypically.
However, their side effects must be weighed against their potential benefits, and autistic people may respond atypically.[SEP]Side effects, for example, may include weight gain, tiredness, drooling, and aggression.
Side effects, for example, may include weight gain, tiredness, drooling, and aggression.[SEP]SSRI antidepressants, such as fluoxetine and fluvoxamine, have been shown to be effective in reducing repetitive and ritualistic behaviors, while the stimulant medication methylphenidate is beneficial for some children with co-morbid inattentiveness or hyperactivity.
SSRI antidepressants, such as fluoxetine and fluvoxamine, have been shown to be effective in reducing repetitive and ritualistic behaviors, while the stimulant medication methylphenidate is beneficial for some children with co-morbid inattentiveness or hyperactivity.[SEP]There is scant reliable research about the effectiveness or safety of drug treatments for adolescents and adults with ASD.
There is scant reliable research about the effectiveness or safety of drug treatments for adolescents and adults with ASD.[SEP]No known medication relieves autism's core symptoms of social and communication impairments.
No known medication relieves autism's core symptoms of social and communication impairments.[SEP]Experiments in mice have reversed or reduced some symptoms related to autism by replacing or modulating gene function, suggesting the possibility of targeting therapies to specific rare mutations known to cause autism.
Experiments in mice have reversed or reduced some symptoms related to autism by replacing or modulating gene function, suggesting the possibility of targeting therapies to specific rare mutations known to cause autism.[SEP]Alternative medicine Although many alternative therapies and interventions are available, few are supported by scientific studies.
Alternative medicine Although many alternative therapies and interventions are available, few are supported by scientific studies.[SEP]Treatment approaches have little empirical support in quality-of-life contexts, and many programs focus on success measures that lack predictive validity and real-world relevance.
Treatment approaches have little empirical support in quality-of-life contexts, and many programs focus on success measures that lack predictive validity and real-world relevance.[SEP]Some alternative treatments may place the child at risk.
Some alternative treatments may place the child at risk.[SEP]The preference that autistic children have for unconventional foods can lead to reduction in bone cortical thickness with this being greater in those on casein-free diets, as a consequence of the low intake of calcium and vitamin D; however, suboptimal bone development in ASD has also been associated with lack of exercise and gastrointestinal disorders.
The preference that autistic children have for unconventional foods can lead to reduction in bone cortical thickness with this being greater in those on casein-free diets, as a consequence of the low intake of calcium and vitamin D; however, suboptimal bone development in ASD has also been associated with lack of exercise and gastrointestinal disorders.[SEP]In 2005, botched chelation therapy killed a five-year-old child with autism.
In 2005, botched chelation therapy killed a five-year-old child with autism.[SEP]Chelation is not recommended for autistic people since the associated risks outweigh any potential benefits.
Chelation is not recommended for autistic people since the associated risks outweigh any potential benefits.[SEP]Another alternative medicine practice with no evidence is CEASE therapy, a mixture of homeopathy, supplements, and 'vaccine detoxing'.
Another alternative medicine practice with no evidence is CEASE therapy, a mixture of homeopathy, supplements, and 'vaccine detoxing'.[SEP]Although popularly used as an alternative treatment for autistic people, as of 2018 there is no good evidence to recommend a gluten- and casein-free diet as a standard treatment.
Although popularly used as an alternative treatment for autistic people, as of 2018 there is no good evidence to recommend a gluten- and casein-free diet as a standard treatment.[SEP]A 2018 review concluded that it may be a therapeutic option for specific groups of children with autism, such as those with known food intolerances or allergies, or with food intolerance markers.
A 2018 review concluded that it may be a therapeutic option for specific groups of children with autism, such as those with known food intolerances or allergies, or with food intolerance markers.[SEP]The authors analyzed the prospective trials conducted to date that studied the efficacy of the gluten- and casein-free diet in children with ASD (4 in total).
The authors analyzed the prospective trials conducted to date that studied the efficacy of the gluten- and casein-free diet in children with ASD (4 in total).[SEP]All of them compared gluten- and casein-free diet versus normal diet with a control group (2 double-blind randomized controlled trials, 1 double-blind crossover trial, 1 single-blind trial).
All of them compared gluten- and casein-free diet versus normal diet with a control group (2 double-blind randomized controlled trials, 1 double-blind crossover trial, 1 single-blind trial).[SEP]In two of the studies, whose duration was 12 and 24 months, a significant improvement in ASD symptoms (efficacy rate 50%) was identified.
In two of the studies, whose duration was 12 and 24 months, a significant improvement in ASD symptoms (efficacy rate 50%) was identified.[SEP]In the other two studies, whose duration was 3 months, no significant effect was observed.
In the other two studies, whose duration was 3 months, no significant effect was observed.[SEP]The authors concluded that a longer duration of the diet may be necessary to achieve the improvement of the ASD symptoms.
The authors concluded that a longer duration of the diet may be necessary to achieve the improvement of the ASD symptoms.[SEP]Other problems documented in the trials carried out include transgressions of the diet, small sample size, the heterogeneity of the participants and the possibility of a placebo effect.
Other problems documented in the trials carried out include transgressions of the diet, small sample size, the heterogeneity of the participants and the possibility of a placebo effect.[SEP]In the subset of people who have gluten sensitivity there is limited evidence that suggests that a gluten-free diet may improve some autistic behaviors.
In the subset of people who have gluten sensitivity there is limited evidence that suggests that a gluten-free diet may improve some autistic behaviors.[SEP]Results of a systematic review on interventions to address health outcomes among autistic adults found emerging evidence to support mindfulness-based interventions for improving mental health.
Results of a systematic review on interventions to address health outcomes among autistic adults found emerging evidence to support mindfulness-based interventions for improving mental health.[SEP]This includes decreasing stress, anxiety, ruminating thoughts, anger, and aggression.
This includes decreasing stress, anxiety, ruminating thoughts, anger, and aggression.[SEP]There is tentative evidence that music therapy may improve social interactions, verbal communication, and non-verbal communication skills.
There is tentative evidence that music therapy may improve social interactions, verbal communication, and non-verbal communication skills.[SEP]There has been early research looking at hyperbaric treatments in children with autism.
There has been early research looking at hyperbaric treatments in children with autism.[SEP]Studies on pet therapy have shown positive effects.
Studies on pet therapy have shown positive effects.[SEP]Prognosis There is no known cure for autism.
Prognosis There is no known cure for autism.[SEP]The degree of symptoms can decrease, occasionally to the extent that people lose their diagnosis of ASD; this occurs sometimes after intensive treatment and sometimes not.
The degree of symptoms can decrease, occasionally to the extent that people lose their diagnosis of ASD; this occurs sometimes after intensive treatment and sometimes not.[SEP]It is not known how often this outcome happens; reported rates in unselected samples have ranged from 3% to 25%.