IACAPAP Textbook of Child and Adolescent Mental Health

DEVELOPMENTAL DISORDERS

Chapter

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INTELLECTUAL DISABILITY
Xiaoyan Ke & Jing Liu

Xiaoyan Ke MD, PhD
Professor & Director, Child
Mental Health ResearchCenter, Nanjing Brain Hospital,
Nanjing Medical University,
Nanjing, JiangSu, China
Conflict of interest: none
declared

Jing Liu MD
Professor & Director, Clinical
Department for Children
and Adolescents, Mental
Health Institute & the Sixth
Hospital, Peking University,
Beijing, China. Vice-President,
Asian Society for Child andAdolescent Psychiatry & Allied
Professions.
Conflict of interest: none
declaredThis publication is intended for professionals training or practicing in mental health and not for the general public. The opinions
expressed are those of the authors and do not necessarily represent the views of the Editor or IACAPAP. This publication seeks todescribe the best treatments and practices based on the scientific evidence available at the time of writing as evaluated by the authorsand may change as a result of new research. Readers need to apply this knowledge to patients in accordance with the guidelines andlaws of their country of practice. Some medications may not be available in some countries and readers should consult the specific drug
information since not all dosages and unwanted effects are mentioned. Organizations, publications and websites are cited or linked toillustrate issues or as a source of further information. This does not mean that authors, the Editor or IACAPAP endorse their content or
recommendations, which should be critically assessed by the reader. Websites may also change or cease to exist.
©IACAPAP 2012. This is an open-access publication under the Creative Commons Attribution Non-commercial License. Use,
distribution and reproduction in any medium are allowed without prior permission provided the original work is properly cited andthe use is non-commercial. Send comments about this book or chapter to jmreyATbigpond.net.au
Suggested citation: Ke X, Liu J. Intellectual disability. In Rey JM (ed), IACAPAP e-Textbook of Child and Adolescent Mental Health.
Geneva: International Association for Child and Adolescent Psychiatry and Allied Professions 2012.

Intellectual disability

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1IACAPAP Textbook of Child and Adolescent Mental HealthThe term intellectual disability (ID) is increasingly being used instead ofmental retardation. ID or mental retardation is defined as a condition ofarrested or incomplete development of the mind, which is especially characterized
by impairment of skills manifested during the developmental period, which contributeto the overall level of intelligence, i.e., cognitive, language, motor, and social abilities(World Health Organization, WHO, 1992). The American Association onIntellectual and Developmental Disabilities (AAIDD) describes ID as characterizedby significant limitations both in intellectual functioning and in adaptive behavior as
expressed in conceptual, social, and practical adaptive skills. This disability originates
before age 18. In general, ID applies to the same individuals who were previously
diagnosed with mental retardation in kind, level, type, duration and the need forservices and supports. Every individual who is or was eligible for a diagnosis of
mental retardation is eligible for a diagnosis of ID (Schalock et al, 2007).

EPIDEMIOLOGY
There have been many surveys to ascertain the prevalence of ID across theworld with estimates ranging from 1% to 3% (Harris, 2006). A recent metaanalysis concluded that the average prevalence of intellectual disability across all thestudies is 1%. Prevalence is higher in males in both adult and child and adolescentpopulations. Among adults, the female-to-male ratio varies between 0.7:1 and
0.9:1, while in children and adolescents it ranges between 0.4:1 and 1:1. Rates
vary according to income; the highest prevalence occurs in low and middle income
countries where rates are almost twice those in high income countries (Maulik
et al, 2011). Another meta-analysis, which considered studies published between
1980 and 2009 in European countries, found overall estimates ranging from 0.4%
and 1.4% (Wittchen et al, 2011). The prevalence of ID across Asia is broadly
consistent with estimates in western countries: 0.06%-1.3% (Jeevanandam,2009). The most recent Chinese national survey on disability, conducted in 2006,
estimated a prevalence of ID of 0.75%. Prevalence in urban areas was lower (0.4%)
than in rural areas (1.02%) (Kwok et al, 2011)

What is a normal
development?
There is a wide range ofwhat can be considered“normal” but growth follows
a certain sequence.
Particular kills are expected
to emerge at more or less a
specific age. For a detailed
description of normal
developmental milestones
go to Chapter A.2 or clickon the picture to go to the
National Dissemination
Center for Children with
Disabilities .

ETIOLOGY AND RISK FACTORS
Etiology of ID is heterogeneous. Injury, infections and toxins have becomeless prevalent causes because of improved antenatal care, while genetic factors havebecome more prominent. No specific etiology can be found in up to 40% of cases,
particularly in mild ID. Environmental influences (e.g., malnutrition, emotionaland social deprivation experienced, for example, in poorly run orphanages) can
also cause or aggravate ID. Understanding the etiology of ID raises the possibilityof treatment or prevention in some cases, while it may allow predicting specificdifficulties in others.
Many factors have been confirmed to cause or be associated with ID.
These factors, which influence the development and function of the child’s brain
prenatally, perinatally or postnatally, can be divided into three groups: organic,
genetic and socio-cultural. Trisomy 21 and fragile X are the commonest diagnosable
genetic causes of intellectual disability. It is unlikely that all intellectual disability
will fit neatly into these three groups − overlapping genetic, environmental andsocio-cultural factors are likely to be relevant in many cases. Conversely, in up
to two-thirds of mild cases and one-third of severe cases, no causes are found,Intellectual disability

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IACAPAP Textbook of Child and Adolescent Mental Health

Table C.1.1
Category

Common causes of intellectual disability
Type

Examples

Chromosomal disorders

•
•
•
•

Down’s syndrome*
Fragile X syndrome
Prader Willi syndrome
Klinefelter’s syndrome

•
•
•
•
•
•

Inborn errors of metabolism, such as galactosemia*
Phenylketonuria*
Mucopolysaccaridoses
Hypothyroidism*
Tay-Sachs disease
Neuro-cutaneous syndromes such as tuberous sclerosis andneurofibromatosis
Brain malformations such as genetic microcephaly, hydrocephalus
and myelo-meningocele*
Other dysmorphic syndromes, such as Laurence-Moon-Biedl
syndrome

Single gene disorders•
Prenatal(before birth)•
Other conditions ofgenetic origin

Adverse environmental
influences••

Rubimstein-Taybi syndrome
Cornelia de Lange syndrome•••

Deficiencies* such as iodine deficiency and folic acid deficiency
Severe malnutrition in pregnancy*
Substances use* such as alcohol (fetal alcohol syndrome), nicotine
and cocaine during early pregnancy
Exposure* to other harmful chemicals such as pollutants, heavy
metals, abortifacients, and harmful medications such as thalidomide,
phenytoin and warfarin in early pregnancy
Maternal infections such as rubella*, syphillis*, toxoplasmosis,
cytomegalovirus and HIV
Others, such as excessive exposure to radiation* and Rh
incompatibility*•••

Perinatal(around thetime of birth)

Third trimester (latepregnancy)•••

Complications of pregnancy*
Diseases* in mother, such as heart and kidney disease, diabetes
Placental dysfunction

Labour (during delivery)•••

Severe prematurity, very low birth weight, birth asphyxia
Difficult or complicated delivery*
Birth trauma*

Neonatal (first fourweeks of life)•

Septicemia, severe jaundice*, hypoglycemia•

Brain infections such as tuberculosis, Japanese encephalitis, andbacterial meningitis
Head injury*
Chronic lead exposure*
Severe and prolonged malnutrition*
Gross under stimulation*

Postnatal (ininfancy andchildhood)

•
•
•
•

*Definitely or potentially preventable.

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IACAPAP Textbook of Child and Adolescent Mental Healthhighlighting the need for further research. A more detailed list of causes is available
at the WHO website (see Table C.1.1). A few are described below in more detail.
Intelligence quotient (IQ)
IQ is a score derived from one of several tests. There are many types of IQ tests
that seek to measure general or specific abilities: reading, arithmetic, vocabulary,memory, general knowledge, visual, verbal, abstract-reasoning etc. Well-known
IQ tests include the Wechsler Intelligence Scale for Children, Stanford-Binet,
Kaufman Assessment Battery for Children, and Raven’s Progressive Matrices.
Traditionally, an IQ score was obtained by dividing the mental age of the person
taking the test (the age group which on average scored such a result in a random
sample of the population) by the chronological age multiplied by 100. However,this method has shortcomings (e.g., it cannot be used in adults). Currently thetest results are standardised against a representative sample of the population; IQ
scores for children are relative to children of the same age. The median result isdefined to be 100 and one standard deviation is 15 points, therefore, 95% of the
population have scores within two standard deviations of the mean (i.e., within
an IQ range of 70 to 130). For IQ to be accurate needs to be standardised against
a population culturally similar to that of the person being tested. For example,
using norms obtained in a Brazilian population would produce biased results if theperson taking the test is Burmese.
Although IQ can change to some extend with increasing age, it is asurprisingly robust construct that is strongly predictive of achievement. IQ
has a large inherited component but environmental factors have a strong effectas well. Heritability increases with increasing age: it can be as low as 0.2 in
infancy, 0.4 in middle childhood, and up to 0.8 in adulthood. What appears to
be a straightforward concept has been marred by controversy over the years. For
example, some scholars believe that intelligence is a learned combination of manydifferent skills and abilities while others assume that intelligence is a single trait
that is heavily determined by genetics, even others believe that there are large
ethnic or racial differences.
IQ tests are different from achievement tests, the latter seek to measure theskills and knowledge learned (e.g., language, arithmetic), usually through schooling;
IQ tests measure aptitude rather than actual achievement (see Chapter C.3). Whilein the past there was an emphasis on the so-called “general intelligence” current
theories view intelligence as a more complex ensemble of aptitudes in a variety ofareas (musical, mechanical, physical, social) which can differ substantially in thesame individual.
Table C.1.2 illustrates the attainment in adulthood of people with different
degrees of ID (WHO). It is clear that even those with severe ID can become atleast partly independent in looking after themselves through proper supervision,
care and training.

Hashan is a four year oldboy. He still can't walk
independently but can takea few steps with support.
He recognizes family
members but cannot show
where his ear and noseare. He can babble (say baba-ba) but has not learnt to
say any meaningful word.
He can't indicate toiletingneeds. His parents say that
he is like a one-year-old
child.
Does Hashanm suffer fom
ID? If so, how severe?

MANIFESTATIONS AND SUBTYPESThe manifestations of ID are mainly developmental delay in intellectual
functioning and deficits in social adaptive functioning. According to the severityof the delay in intellectual functioning, deficits in social adaptive function and IQ,
the psychiatric classifications describe four levels of severity:Intellectual disability

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IACAPAP Textbook of Child and Adolescent Mental Health

Table C.1.2
disability

Adult attainment according to the degree of intellectual

Degree

IQ range

Adult attainment

50-70

•
•
•
•

Literacy +Self-help skills ++Good speech ++Semi-skilled work +Moderate

35-50

•
•
•
•

Literacy +/Self-help skills +Domestic speech +Unskilled work with or without supervision +Severe

20-35

•
•
•

Assisted self-help skills +Minimum speech +Assisted household chores +ProfoundLess than 20••

Speech +/Self-help skills +/-Mild

Note: +/- sometimes attainable; + attainable; ++ definitely attainable•

Profound
IQ is usually below 20; profound intellectual disability accounts
for 1% to 2% of all cases. These individuals cannot take care ofthemselves and have no language. Their capacity to express emotions
is limited and poorly understood (Adams & Oliver, 2011). Seizures,
physical disabilities, and reduced life expectancy are common.

•

Severe
IQ is usually between 20 and 34; severe intellectual disability
accounts for 3% to 4% of all cases. Every aspect of their developmentin the early years is distinctively delayed; they have difficulty
pronouncing words and have a very limited vocabulary. Throughconsiderable practice and time, they may gain basic self-help skills but
still need support at school, home and in the community.

•

Moderate
IQ is usually between 35 and 49, accounting for about 12% of allcases. They are slow in meeting intellectual developmental milestones;
their ability to learn and think logically is impaired but are able tocommunicate and look after themselves with some support. Withsupervision, they can perform unskilled or semiskilled work.

•

Mild
IQ is usually between 50 and 69 and account for about 80% of allcases. Development during their early life is slower than in normalchildren and developmental milestones are delayed. However, they
are able to communicate and learn basic skills. Their ability to use
abstract concepts, analyze and synthesize are impaired but can achieve
reading and computing skills to grade three to six level. They canIntellectual disability

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5IACAPAP Textbook of Child and Adolescent Mental Healthperform house-work, look after themselves and do unskilled or semiskilled work. They usually require some support.

CLINICAL SYMPTOMS
SpeechChildren with ID usually have delayed language development and difficulties
speaking and expressing themselves. The degree of severity varies with the level of
impairment of intellectual ability. Mild cases can achieve language skills that are
only a little poorer than children in the normal range of development. Severe or
profound cases can’t communicate at all or speak only a few words.
Perception
Children with ID are slow in reacting and perceiving environmental stimuli.
They have difficulties distinguishing small differences in the shape, size and color.
Cognition
Capacity to analyze, reason, comprehend and calculate, and for abstract
thinking is often impaired to a greater or lesser extent according to severity.
Children with mild ID are capable of achieving reading and mathematics skills
to approximately the level of a typical child aged 9 to 12 (Daily et al, 2000).
Individuals with severe or profound ID lack the capacity to read, calculate or evenunderstand what others say.
Concentration and memory
Ability to concentrate is low and narrow. By and large, memory is poor and they
are slow at remembering although there are exceptions (e.g., savants). They havedifficulties recalling and their memories are often inaccurate.
EmotionEmotions are often naive and immature but may improve with age. Capacity
for self-control is poor and impulsive and aggressive behavior is not uncommon.
Some are timid, withdrawn and shy.
Movement and behavior
Children with ID often lack coordination, may be clumsy or show excessive
movement. Meaningless or stereotyped movements (e.g., rocking, head-banging,teeth-biting, shouting, tearing clothes, pulling hair, playing with the genitals)
are frequent in severe ID. Destructive, aggressive or violent behavior can also
be observed. Self-injurious behavior (e.g. self-slapping or biting) may occur inmoderate and severe ID.
Health problems associated with intellectual disability
Compared with normal children, children with ID are at a higher risk of
having other health problems. The most prevalent health conditions are: epilepsy(22%), cerebral palsy (20%), anxiety disorders (17%), oppositional defiant
disorder (12%), and autistic disorder (10%) (Oeseburg et al, 2011).
Epilepsy••

Between 1% and 13% of children with Down syndrome have epilepsy(Arya et al, 2011)
Epilepsy, often severe and hard to control, is present in 85% ofIntellectual disability

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IACAPAP Textbook of Child and Adolescent Mental Health•Angelman syndrome patients within the first three years of life (Fiumara
et al, 2010)
Patients with fragile X syndrome are highly prone to develop epilepsy(Qiu et al, 2008)

Behavior problems
Symptoms like restlessness (continuously moving around, unable to sit in
one place), poor concentration, impulsiveness, temper tantrums, irritability andcrying are common. Other disturbing behavior, like aggression, self-injurious
behavior (such as head banging) and repetitive rocking may also be seen (see section
on challenging behaviors below). When such behavior is severe and persistent, it
can become a major source of stress for families. Therefore, attention should be
paid to reduce such behavior while providing treatment and care.
Sensory impairment
Visual and hearing problems are present in about 5%-10% of persons with
ID. Sometimes these problems can be resolved by using hearing aids or glasses, orundergoing surgery for cataracts
As noted earlier, other developmental disabilities, such as cerebral palsy,
speech problems and autism can occur along with ID. Persons with multiple
disabilities pose a big challenge in terms of providing care.

John Langdon Haydon
Down (1828 -1896), a British
physician, was the first to
describe a relatively common
genetic disorder that is now
called Down syndrome.

COMMON CONDITIONS ASSOCIATED WITH
INTELLECTUAL DISABILITY
Down syndrome
Down syndrome, also known as trisomy 21, is a chromosomal disordercaused by an additional copy of genetic material on chromosome 21, which affects
the development of the body and brain. This syndrome was first described by the
British physician John Langdon Down and identified in 1959 as caused by a 21
trisomy by Jérôme Lejeune.

Maternal age andDown syndrome
A woman's risk of having ababy with Down syndromeis:•At age 25, 1 in 1,250•
At 30, 1 in 1,000•
At 35, 1 in 400•
At 40, 1 in 100•
At 45, 1 in 30•
At 49, 1 in 10

Figure C.1.1 Symptoms of Down syndromeIntellectual disability

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The incidence of Down syndrome is approximately one per 1000 newborns(Roizen & Patterson, 2003) and is influenced by maternal age. Women aged 35
and older have significantly higher risk.
Down syndrome can be diagnosed by chromosome analysis either prenatallyor postnatally, according to which it can be grouped into four types: trisomy 21,
mosaicism, translocation and duplication of a portion of chromosome 21.
Clinical features of Down syndrome include (Figure C.1.1):•

Intellectual disability, usually mild; they possess good social skills•

A characteristic appearance including brachycephaly, epicanthal folds,
upslanting palpebral fissures, strabismus, Brushfield spots on iris,
flattened nose, low-set and rounded ear, macroglossia, open mouth,
short neck, brachydactyly, fifth finger clinodactyly, atypical fingerprints,
wide 1-2 toe gap known as sandal foot•Impaired physical growth such as short stature, short limbs and lax
ligaments•

Often accompanied by different medical problems including congenital
heart disease, duodenal atresia, hearing loss, ophthalmologicalproblems, hypothyroidism, early-onset dementia, and leukemia.

Down syndrome can be detected through prenatal screening. Common
screening procedures include: (a) measurement of maternal serum alphafetoprotein(AFP), human chorionic gonadotropin (hCG), unconjugated oestriol, andinhibin-Alpha (INHA) at 15-20 gestational weeks; (b) fetal ultrasound testing fora thickened nuchal fold with measurement of maternal serum free Beta hCG and
pregnancy-associated plasma protein A (PAPPA) at 10-13.5 gestational weeks; both(a) and (b). For families with a high risk of having a child with Down syndrome,an invasive diagnostic test, such as amniocentesis, chorionic-villus sampling, or
percutaneous umbilical cord blood sampling, performed in the late first trimesteror early second trimester, is most accurate.
Fragile X syndrome
Fragile X syndrome (also known as Martin-Bell syndrome and Escalante's
syndrome) is an X-linked disease that is one of the most common inherited
forms of ID. It is also associated with autism. Martin and Bell first described thisdisorder in 1943, and Herbert Lubs identified an associated fragile site on the X
chromosome in 1969.
The fragile X syndrome is characterized by an expansion of a single
trinucleotide gene sequence to over 200 copies of a CGG repeat in the
5’-untranslated region of the fragile X ID 1 (FMR1) gene located at band q27.3
on the long arm of the X chromosome (Xq27.3), which silences the transcriptionof the gene.
Incidence is about 1 per 2000-5000 persons and is 30% more frequent
in males than in females (Hessl et al, 2002; Ridaura-Ruiz et al, 2009). Fragile X
syndrome is an X-linked dominant condition with variable expressivity and possibly
reduced penetrance that is largely transmitted by females but affecting males more
often because males normally have only one copy of the X-chromosome.

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Premutation
Premutation is a change
in a gene that precedes amutation without altering
the function of the gene.
In disorders causedby trinucleotide repeat
expansions, such as
fragile X, premutation isan abnormally large allele
that is not associated withclinical symptoms butthat can expand into a fullmutation when transmitted
to the offspring. Fullmutations cause clinicalsymptoms of the disorder.

Prevalence offragile X
Approximately:•
1 in 3600 to 4000
males are born withthe full mutation forfragile X and will havefragile X syndrome•
1 in 4000 to 6000
females are born withthe full mutation forfragile X but only 50%of them will show
some features offragile X syndrome•
1 in 800 men are
carriers of the fragile
X premutation•
1 in 260 women are
carriers of the fragile
X premutation.

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IACAPAP Textbook of Child and Adolescent Mental Health

Figure C.1.2
conditions

Percentage of children with fragile X syndrome diagnosed or treated for other

Source: CDC

Clinical manifestations of the fragile X syndrome vary from mild to severein physical, cognitive, emotional and behavioral features. Generally, females havea less severe form of the disease than males. Physical phenotype includes a long,narrow face with a prominent forehead and protuberant ears, joint hypermobility
associated with connective tissue dysplasia, double-jointed thumbs, flat feet, andmacro-orchidism after puberty in males. Individuals with fragile X syndrome
usually have cognitive deficits − IQ ranging from normal or borderline to severely
low − such as problems with working memory, executive function, and mathematicand visuospatial abilities. Language delay is also evident in early childhood.
Emotional and behavioral disturbances are common, including anxiety and mooddisorders, features of attention deficit hyperactivity disorder, obsessive compulsivelike symptoms (e.g., repetitive actions or phrases), aggressive and self-injurious
behavior, and a difficult temperament. Fragile X syndrome is a common cause ofautism. Neurological problems such as seizures may also be found. In addition,
persons carrying a premutation (CGG repeat number ranges from 55 to 200)
are believed to have a clinical disorder characterized by mild learning disability,
emotional problems, premature ovarian failure, and a neurodegenerative disordercalled fragile X-associated tremor/ataxia syndrome in older people.

Prominent characteristics ofFragile X syndrome include
an elongated face, large
or protruding ears, and low
muscle tone.

Genetic tests for CGG repeat expansions in FMR1 gene using PCR andsouthern blot analysis is diagnostic for fragile X syndrome and should be provided
to all persons with developmental delay, borderline intellectual abilities, ID
and autism. Sequencing of FMR1 gene should be considered as well to exclude
deletions of this gene if normal CGG-repeat length is found (Garber et al, 2008).

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Genetic counseling is recommended for the whole family if a positive fragile
X syndrome premutation or full mutation is detected, and cascade testing shouldbe planned for family members. Although genetic counseling cannot prevent
fragile X syndrome, it is still important to give at-risk families accurate reproductive
counseling and allow for appropriate intervention beginning in infancy.
Phenylketonuria
Phenylketonuria (PKU) is an autosomal recessive single gene disorder
discovered by the Norwegian physician Ivar Asbjørn Følling in 1934. It is caused
by mutations of the phenylalanine hydroxylase (PAH) gene or genes coding for
enzymes involved in the cofactor tetrahydrobiopterin (BH4) biosynthesis or
recycling, which result in dysfunction of phenylalanine metabolism leading toexcessive phenylalanine and related substances in the blood, the brain and theurine. Increased phenylalanine concentrations in the brain are toxic and cause
disruption of neuropsychological function. The prevalence of phenylketonuria
varies widely around the world due to ethnic and social reasons (e.g., frequency of
consanguinity). In Europe the prevalence is about one case per 10000 live births,
but it is one in 4000 in Turkey, one in 25000 to one in 50000 in Latin America
and one in 100000 live births in some regions of China (Blau et al, 2010).
PKU is diagnosed if blood amino acid analysis reveal a raised concentrationof phenylalanine (>120 umol/L). To clarify whether the patient withhyperphenlalaninaemia is deficient in BH4 synthesis or regeneration, measurementof urinary pterins or red blood cell dihydropteridine reductase through a filter
paper-dried blood specimen, or BH4-load test should be done (Blau et al, 2005).
Urinary pterins patterns can differentiate several types of PKU:
•
•
•
•
•

Classical PKU with PAH deficiency: total pterins are high but the ratio
between neopterin and biopterin is normal
GTP cyclohydrolase (GTP-CH) I deficiency: total biopterins are very low
or not detectable6-pyruvoyl-tetrahydropterin synthase (6-PTS) deficiency: neopterin is
increased but biopterin is decreased
Pterin-4a-carbinolamine dehydratase deficiency: neopterin is high whilebiopterin is low or borderline, and primapterin is highDihydropteridine reductase (DHPR) deficiency: neopterin is normal andbiopterin is raised.

Click on the picture to viewa short description of PKU(6:02)

Inherited metabolic
disorders
Chromosomes in humancells contain genes
which control growthand maturation. Someof these are responsible
for chemical (metabolic)reactions, which areessential for brain growth. Ifsuch a gene is abnormal, it
can lead to a derangementof metabolic reactions
and cause problems suchas mental retardation.
Phenylketonuria is one
such condition. Babies withphenylketonuria, in addition
to mental retardation, havelight-colored hair and skin,a small head, and areprone to convulsions.

Blood is taken from a twoweek old infant to test for PKU
Photo: Nando Peretti Foundation

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IACAPAP Textbook of Child and Adolescent Mental HealthBabies with PKU seem normal at birth but progressively show developmental
disabilities frequently accompanied by lighter skin, hair, eyes, eczematous rash,“mousy” odor, motor deficits, seizures, behavior problems and autism. Early
screening, diagnosis and prompt intervention can prevent individuals with PKU
from further damage to the brain. Newborn blood screening test for PKU is usually
performed three to seven days after birth and a repeat test at approximately two
weeks of age to verify the initial test, followed by further diagnostic tests if positive.
Intervention should be started as soon as PKU is confirmed. Restrictionof dietary phenylalanine is still the most important and effective management:
phenylalanine-free formula with low protein; avoiding foods rich in protein(such as meat, fish, milk, eggs, standard bread, most cheeses, nuts and seeds) andcontaining aspartame (flour, soya). For patients with the BH4-responsive type,identified by BH4-load test, preparations containing BH4 may be prescribed.
Other approaches, such as large neutral amino acids treatment, use of phenylalanine
ammonia lyase and gene therapy are under investigation (Blau et al, 2010). For
best outcomes, serum phenylalanine should be monitored regularly throughout
life in case changes are needed to maintain target therapeutic blood levels.

Iodine deficiency (whichcauses hypothyroidism)
is the single greatest
preventable cause ofmental retardation and an
important public healthproblem. This condition canbe prevented with iodine
supplements in the dietsuch as by using iodized
salt.

Congenital hypothyroidism
Congenital hypothyroidism is an endocrine disease caused by thyroid
hormone deficiency after birth. It can be classified into permanent and transient.
Permanent congenital hypothyroidism is usually associated with thyroid dysgenesis,
dysfunction of thyroid hormone biosynthesis or metabolism, or deficiency of
thyroid stimulating hormone (TSH), while transient congenital hypothyroidism
is due to iodine deficiency, maternal intake of antithyroid drugs, or transplacental
maternal thyrotropin receptor blocking antibodies (TRB-Ab). Congenital
hypothyroidism occurs in approximately one per 2000 to 4000 live births (Rastog
et al, 2010).
Congenital hypothyroidism is diagnosed by measuring serum TSH andeither free T4 or total T4 combined with T3 resin uptake. According to agenormative reference ranges, primary congenital hypothyroidism is confirmedwith increased TSH and decreased or normal free T4 or total T4, while secondary(central) congenital hypothyroidism is likely if T4 is low but TSH is not elevated.
There are other diagnostic tests to further determine the underlying etiology
including measurement of urinary iodine, radionuclide uptake and scan, thyroid
ultrasonography, serum thyroglobulin measurement, antithyroid antibody
determinations, evaluation for other pituitary hormone deficiencies, brain MRI,
and genetic testing.
Clinical features of congenital hypothyroidism in infants include:persistent jaundice, poor feeding, quiet, excessive sleeping, constipation, low bodytemperature, abnormal cry, umbilical hernia, bradycardia, hypotonia with delayed
reflexes. Some may have a palpable goiter. The typical appearance includes a wide
posterior fontanel, puffy face, flattened nose, eyes exhibiting pseudohypertelorism,
and open mouth with macroglossia. If untreated, congenital hypothyroidism canresult in growth failure, permanent mental impairment and cardiac problems.
Newborn thyroid screening tests and early management are very importantto prevent the development of ID in congenital hypothyroidism. Blood sampledfrom a heel-prick between two and five days of age is screened by special filter

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IACAPAP Textbook of Child and Adolescent Mental Healthpaper cards to detect TSH levels. A second test is performed, especially for pretermand acutely ill term infants with “delayed TSH rise”, between two and six weeks
of age. If initial TSH >30mU/L serum or >15mU/L whole blood, confirmatory
serum thyroid testing should be performed (Rastog & LaFranchi, 2010).
Once congenital hypothyroidism is diagnosed, oral thyroxine treatment
should be initiated immediately with close follow up, particularly in the first two to
three years of life, crucial for positive neurologic outcome. High dose levothyroxine
is recommended to normalize serum T4 and TSH as rapidly as possible, monitoringclosely in order to adjust levothyroxine dose promptly if results are abnormal. For
infants with central congenital hypothyroidism, however, low dose levothyroxine
should be started and increased slowly, with addition of physiological doses ofcortical hormone meanwhile to prevent sudden hypocorticism from happening.
Treatment of transient congenital hypothyroidism takes several years, whereas
it is lifelong in permanent congenital hypothyroidism. Genetic counseling andantenatal diagnosis should be considered for families at risk of having a baby withcongenital hypothyroidism.
Prader-Willi syndrome
Prader-Willi syndrome is an uncommon genetic disorder of chromosome
15q11-13. It was first described by Andrea Prader and Heinrich Willi in 1956.
Symptoms include weak muscle tone, feeding difficulties, short stature, incomplete
sexual development, cognitive disabilities, and a chronic feeling of hunger that canlead to excessive eating and obesity. Incidence is approximately one in 25,000 to
one in 1,000 newborns (Killeen, 2004). Individuals with Prader-Willi syndromeare at risk of learning and attention difficulties. Research suggests that most (50%-

The children depicted
here have a geneticallyconfirmed diagnosis ofAngelman syndrome.
Happy expression
and an unstablegait accompanied
by uplifted arms arecommonly observed.
At times, the facial
appearance cansuggest the diagnosis,
but usually facial
features are notdistinctive. Source:
Gene Reviews.

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IACAPAP Textbook of Child and Adolescent Mental Health65%) fall within the mild/borderline/low average intelligence range (Curfs &Fryns,1992; Cassidy,1997).
Traditionally, Prader-Willi syndrome was diagnosed by clinical characteristics
but it can now be diagnosed by genetic testing. Prader-Willi syndrome has no cure.
Early diagnosis allows for early intervention. Children should receive treatment toimprove muscle tone. Speech and occupational therapy are also indicated. School
aged children will benefit from a highly structured learning environment as well
as special education. Daily recombinant growth hormone injections are helpful(Carrel et al, 2002).
Angelman Syndrome
Angelman syndrome is a complex genetic disorder characterized byintellectual and developmental delay, severe speech impairment, seizures, ataxia,
hand-flapping, and a happy, excitable demeanor with frequent smiling and laughter.
It was first described by Harry Angelman in 1965. Prevalence is approximately one
in 10,000 to one in 20,000 live births (Petersen et al,1995; Steffenburg et al,1996).
Angelman syndrome is caused by the loss of the normal maternal
contribution to a region of chromosome 15, most commonly by deletion of asegment of that chromosome. Diagnosis relies on a combination of clinicalfeatures, molecular genetic testing or cytogenetic analysis. Consensus diagnostic
criteria for Angelman syndrome are available (Williams, 2006). Analysis of parentspecific DNA methylation imprints in the 15q11.2-q13 chromosome region
detects approximately 78% of individuals with Angelman syndrome; fewer than
1% have a cytogenetically visible chromosome rearrangement. UBE3A sequence
analysis detects mutations in an additional 11%. Accordingly, molecular genetic
testing identifies alterations in approximately 90% of individuals with Angelman
syndrome (Dagli & Williams, 2011). Currently, Angelman syndrome has no cure;treatment is symptomatic (e.g., epilepsy can be controlled with anticonvulsant
medication).
Galactosemia
Galactosemia is an autosomal recessive single gene disorder associated witha dysfunction of the enzymes that convent galactose into glucose, leading to theaccumulation of toxic amounts of galactose in the blood and body tissues, resulting
in ID and multiple organ damage. It was first reported by Goppert in 1917, andidentified as a defect of galactose metabolism by Herman Kalckar in 1956. Its
prevalence is about one per 60,000 live births.
•

According to the enzymes affected, galactosemia can be classified into
three typeType I, classic galactosemia, is due to galactose-1-phosphateuridyltransferase (GALT) deficiency•

Type II, galactokinase (GLK) deficiency•

Type III, UDP-galactose epimerase (GALE) deficiency.

Diagnosis of galactosemia is established by a test using blood or urine todetect activity of the three enzymes mentioned above and to quantify galactose
levels. In addition, molecular genetic testing is now available (Elsas, 2010).
Infants with galactosemia present nonspecific symptoms including
vomiting, diarrhea, poor feeding, prolonged jaundice, hepatomegaly, failure toIntellectual disability

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IACAPAP Textbook of Child and Adolescent Mental HealthConsequences of galactosemia

thrive, lethargy, and bleeding diathesis. If not treated promptly, sepsis, liver failure,cataracts, intellectual disabilities, growth delay and death may occur. However,chronic or secondary complications are probable in older children and adults
even with early and adequate therapy, including delayed growth, poor intellectual
functioning, speech defects, motor problems, learning disabilities and ovarian
failure.
To prevent the primary manifestations of galactosemia, it is very importantto perform newborn screening tests for all infants and immediate restrictions on
all lactose-containing foods and medicines in those affected. Symptoms resolve
quickly and prognosis is good if dietary therapy is started in the first three to tendays of life. Routine monitoring of galactose accumulation is necessary to makeadjustments to treatment. Other interventions include calcium supplements,
ophthalmologic examination, developmental evaluation, and speech assessment.
For families at risk of having an affected child, genetic counseling and prenatal
diagnosis are recommended.
Fetal alcohol syndrome
Fetal alcohol syndrome, the most severe form of fetal alcohol spectrum
disorders, is a preventable cause of intellectual disability. Fetal alcohol syndromeis the result of high alcohol consumption during pregnancy, especially in the first
three months of gestation, which can inflict considerable harm to the developing
fetus, particularly to the brain. Rates vary according to alcohol consumption in a
population; in the USA, it is estimated at 0.2 to 1.5 per 1000 live births have fetal
alcohol syndrome (Centers for Disease Control and Prevention, 2009).
Medical practitioners’ knowledge about this condition is low and detection
is very poor, with many sufferers going undiagnosed. Together with a history ofmaternal alcohol intake, currently physicians still rely heavily on three clinicalcharacteristics for diagnosis (Centers for Disease Control and Prevention, 2009):•••

Facial abnormalities
Central nervous system abnormalities
Growth deficits.

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Click on the picture to view aone-hour educational video
on fetal alcohol syndrome.

14

IACAPAP Textbook of Child and Adolescent Mental HealthMore effective diagnostic tools for early detection using biomarkers, such as
fatty acid ethyl esters in the meconium (Bearer et al, 2005), are under investigation.
Clinical symptoms vary depending on the amount, frequency and timingof alcohol exposure, maternal and genetic influences. Infants with fetal alcohol
syndrome usually show growth retardation and a mixture of characteristic
craniofacial anomalies, which are the hallmarks, including a flat philtrum, thinupper lip, short palpebral fissures, epicanthal folds, low nasal bridge, short
upturned nose, ear malformations, and flattened maxilla. Central nervous systemabnormalities are also commonly seen in fetal alcohol syndrome, which may
include microcephaly, seizures, poor motor coordination, neurosensory hearing
loss, cognitive and functional impairments. Furthermore, fetal alcohol syndrome
may predispose to the development of mental health problems and substance use.
The only way to prevent fetal alcohol syndrome is to keep away fromalcohol during pregnancy. Education for pregnant women or who are planning
pregnancy is essential. In addition, screening questionnaires and biochemicalmarkers for detection of maternal alcohol use are useful to detect risk behaviors
and intervention to prevent further damage to the fetus. More research on this area
is sorely needed (Ismail et al, 2010).

DIAGNOSING INTELLECTUAL DISABILITY
According to both the DSM and ICD, three basic criteria should be met fora diagnosis of intellectual disability (or mental retardation):•

Significantly sub average intellectual functioning (IQ of 70 or below)•

Concurrent deficits or impairments in adaptive functioning in at least
two of the following areas: communication, self-care, home living,social/interpersonal skills, use of community resources, self-direction,functional academic skills, work, leisure, health, and safety•

Onset is before age 18 years.

The subtypes and their characteristics have already been described earlier inthe chapter. Diagnosis requires a full professional assessment of intelligence andadaptive behavior. Children with ID are usually brought to professional attention
because of their behavior rather than their low intelligence. Moderate and severeIntellectual disability and DSM-5
The revision of the DSM classification is proposing to change the name of this group ofdisorders to “intellectual developmental disorder” and less reliance on IQ for diagnosis.
According to this proposal, a diagnosis of intellectual developmental disorder would require:•
Deficits in general mental abilities such as reasoning, problem-solving, planning,
abstract thinking, judgment, academic learning and learning from experience with an
IQ two or more standard deviations below the population mean for a person’s age andcultural group (IQ below 70).
•
These deficits significantly impair functioning by limiting participation and performancein one or more aspects of daily living, such as communication, social participation,functioning at school or at work, or personal independence at home or in community
settings. These limitations result in the need for ongoing support at school, work, or
independent life.
•
Onset during the developmental period.

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IACAPAP Textbook of Child and Adolescent Mental Healthforms are identified early because developmental milestones are markedly delayed.
Milder forms often become apparent during primary school as a result of academic
difficulties, or even later, during adolescence.
A comprehensive assessment should include detailed questioning about:•

The medical history of parents and family: genetic conditions,
infections during pregnancy, prenatal exposure to toxins, perinatal
injury, prematurity, and metabolic disorders•

Development: language and motor skills, socialization, understanding
and calculation•

Environment in which the child is raised: education, resources and thefamily environment

Physical examination, by the mental health clinician or pediatrician,focusing on symptoms associated with ID. For example, appearance of the face(e.g., the flat, broad face of Down syndrome) (Conor, 1999) or Brushfield spots(small white or grayish/brown spots on the periphery of the iris also common in
Down syndrome) that may alert the clinician to the possibility of ID.
IQ measurement is mandatory in all cases in which ID is suspected. IQ
should be measured using, if at all possible, widely accepted tests that have beenstandardized for the specific − or culturally similar − population (e.g., normative
data obtained in a German population should not be used for Chinese children).
Widely used tests include the Wechsler Intelligence Scale for Children and the
Stanford-Binet Intelligence Scales.
It is also useful to evaluate adaptive behavior. To do that professionals
compare the functional abilities of a child to other children of similar age andeducation. There are many adaptive behavior scales available, such as Vineland
Adaptive Behavior Scales and Adaptive Behavior Assessment System-II, but an accurate
assessment of children’s adaptive behavior requires clinical judgment as well.
Laboratory investigations (e.g., genetic testing) are indicated in all patientswith ID, seeking to ascertain its etiology, which may have significant implications
for treatment, prognosis and prevention. The extent of these investigations will
largely depend on parents’ resources and availability of these tests in the specificcountry.
Differential diagnosis
Another term “developmental delay” is a broader concept than ID. It indicatesthat children show difficulties in one or more areas of adaptive functioning; thisdoes not necessarily imply that they have significantly impaired cognitive abilities.
In other words, although individuals with ID also show developmental delays, not
all developmentally delayed children are intellectually disabled.
Among the most common conditions that can be misdiagnosed as ID are
specific developmental disorders and school underachievement. In the former,
children may appear developmentally disabled because they perform poorly in
one or several academic skills (e.g., reading, arithmetic) when in fact they havean average IQ. In the latter, poor school performance mimicking ID may be
due to other factors such as depression or school non-attendance (see Chapter

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IACAPAP Textbook of Child and Adolescent Mental HealthC.3). Although rare, the possibility of severe environmental deprivation, which
may present with similar symptoms to ID (e.g., in severely deprived and understimulated children in orphanages), should also be excluded. Many children with
autism spectrum disorders also have ID, however, they show the specific symptomsof the autism spectrum disorder. In these cases both diagnoses should be made.
Borderline intellectual functioning
The boundary between “normal” and “below average” IQ is not rigid, as
highlighted by the fact that psychosocial impairment is also required for a diagnosis
of ID. Individuals with an IQ in the range of 71-85 − borderline intellectual
functioning, about 7% of the population − are not impaired enough to warrant adiagnosis of ID, nevertheless they face considerable difficulties due to their limited
cognitive ability. They may be able to perform day to day activities and a simple job
without assistance but are more vulnerable to stressful life events and more likely
to develop a psychiatric disorder as a result.

MANAGEMENT
In all cases of ID, the crux of treatment is early detection and earlyintervention. As no specific etiology can be found in up to 40% of cases and many
known causes cannot be cured, in the majority of cases, the aim of treatment is
not a "cure" but to minimize symptoms and disability through reducing risk (e.g.,
helping individuals to be safe at home or school), teaching life skills, improve
life quality and support families and carers. Detailed goals and modalities oftreatment for each individual will largely depend on the cause and severity of ID
and comorbid conditions.
Etiological treatment
If the cause of ID is detected in a newborn, usually through screening,
etiological treatment should be administered (e.g., in diseases such as PKU,
congenital hypothyroidism and galactosemia) as already described.
Challenging behaviors and behavior intervention
Challenging behaviors is a term used to describe comportment that interfereswith the daily life of individuals with ID and their carers, reduce their quality oflife and survival. These represent a wide range of problems that includes, among
others, aggression, self-injury (such as head banging or ingestion or inhalationof foreign bodies), destroying objects, non-compliance, idiosyncratic habits (e.g.,
restricted range of foods), and socially inappropriate behavior. These problems
frequently result in carers seeking medical help and can easily overwhelm families’
ability to cope with and care for these young people, often resulting in rejection or,
in more severe cases, institutionalization.
As in non-ID individuals, challenging behaviors serve a function and they
are maintained or reinforced if the person with ID is successful in altering theirinternal or external environment through their behavior – such as by gaining
attention, avoiding duties or demands, achieving access to preferred activities orobjects or control over their own life, sensory feedback (e.g. hand flapping, eyeIntellectual disability

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IACAPAP Textbook of Child and Adolescent Mental Healthpoking), and reduction of arousal and anxiety. The causes of challenging behavior
are complex and include:••

Medical−Unrecognized pain or discomfort−

Side effects of medications−

Substance abuse−

Physical illnesses such as epilepsy−

Behavioral phenotypes specific for a syndrome

Dual diagnosis. As already highlighted, intellectually disabled young
people have higher rates of psychiatric disorder. A comorbid psychiatricillness (often referred to as “dual diagnosis”) occurs in about half ofindividuals with ID, the more frequent being ADHD, depression,
autism and conduct problems, but schizophrenia and bipolar disorderalso occur at least as often as in the non-ID population. Psychiatricillnesses like schizophrenia, depression and obsessive compulsive
disorder present with roughly the same features in those with mild
ID as in other people. However, recognition can be difficult in youth
with moderate and severe ID, who tend to display more disorganized,
unpredictable and difficult to understand symptoms, compounded byinability to describe their experiences:−

Depression may present as withdrawn behavior, irritability andaggression−

Manic episodes may present as distinct periods in which the youth
with ID absconds, becomes boisterous, irritable or disinhibited−

Aggression without clear precipitants and associated with bizarre
behaviors suggestive of hallucinations or suspiciousness could
suggest schizophrenia.

The existence of a family history of psychiatric illness such as
schizophrenia or mood disorders may raise the suspicion. Timely
identification and treatment of these comorbid conditions reduce
disability, family burden and improve quality of life. There arequestionnaires available that can help clinicians in the assessment ofcomorbid psychiatric problems such as the Developmental Behaviour
Checklist (DBC; Einfeld & Tonge, 2002) a 96-item inventory, and
the Aberrant Behavior Checklist (ABC; Aman et al, 1985), a 58-item
questionnaire.
•

Environmental−

Problems in the living and working environment (e.g., lack ofstimulation, family conflict, bullying)−

Life events (e.g., change of school, death or separation)−

Communication issues (e.g., inability to communicate, carers not
attuned to the young person’s needs, inappropriate managementthat reinforces challenging behavior)−Life stages (e.g., puberty)Intellectual disability

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IACAPAP Textbook of Child and Adolescent Mental Health−Behavior serves a function or purpose for the person. Challenging
behaviors are maintained if the person is successful in altering
their internal or external environment through their behavior.

Management of challenging behaviors
People with ID and challenging behaviors or dual diagnosis are one of themost disadvantaged groups in most countries, very often receiving substandard
care. One of the key roles of mental health professionals dealing with people with
ID is the management of challenging behaviors. This requires considerable time,
experience and skill. The starting point is to ascertain whether there are treatablecauses (as listed above) and to conduct a behavior analysis. The settings in which
problems occur can be the home, school or vocational training place, respite carefacility or institution. Behavior analysis includes:•

A detailed description of the challenging behavior•

When and where does it take place (time, place, activity, context)•

The sequence of events and interactions with others: possible triggers,
how others respond, do these responses reinforce the behavior?

•

Skill factors (or lack of ) involved•

Potential needs met by the challenging behaviors.

Once this is understood, a behavior intervention plan can be designed toaddress the problem. The first goal will be to ensure the safety of the child with
ID and of the family or carers. The second would be to extinguish the undesirable
behavior. In most cases this will involve families, teachers or workers in institutions,taking into consideration the family’s needs, strengths and weaknesses, and often
supporting and empowering them. Educating, helping and engaging the support
network is essential for success.
Medication
Medication is often used (probably overused; Branford, 1994) in thetreatment of people with ID. Because mental health professionals are often
consulted in crisis situations, medication may be prescribed in an ad hoc
basis to deal with the crisis, when medication should optimally be used after
a comprehensive assessment and as part of an overall treatment plan in which
behavioral management and involvement of the family are essential (see above).
The particular issues of informed consent in this population should also be taken
into account.

Click on the picture to watch
a video about education
programs in people with
ID (Cantones with English
subtytles; 8:01).

Smaller doses than those typical in non-ID patients should be used – people
with ID generally have more medical problems and are more sensitive to the side
effects of drugs. Therefore it is wise to start with a very low dose and gradually
increase it according to response and side effects.
Use of medications in this group is largely based on clinical experiencerather than trial data. In the absence of controlled trial data, antipsychotics,
antidepressants, mood stabilizers and other psychotropic medications should be
used for the same indications as for children without ID, with the precautions listed
above. The growth in the use of second generation antipsychotics, particularly forthe management of challenging behaviors, is of concern. While some trial data inchildren (Snyder et al, 2002) – not replicated in adults (Tyrer et al, 2008) – suggestIntellectual disability

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Click on the picture towatch a video on the US“Individualized Education
Program” (IEP) (2:38).

19

IACAPAP Textbook of Child and Adolescent Mental Healththat they may be useful in the short term, there are growing concerns about theirlong-term use because of side effects (e.g., metabolic syndrome).
Agents that reduce sexual desire are of special relevance to adolescents with
ID because they occasionally display inappropriate, difficult to control sexual
behavior. This can cause alarm and may result in restrictions to their freedom.
Although the use such medications (e.g., cypropterone, testosterone antagonists)
pose significant ethical challenges, they are increasingly prescribed for this purpose(Reilly et al, 2000).
Education

Click on the picture to watch
a video about children withdisabilities’ transition fromschool programs.

In general, children with ID are less efficient at learning than other children.
As they grow up and master activities of daily living, they need to attend school
like other children. In high income countries such as the US, every child with
ID from age three through 21 have access to free public education through anindividualized education program. In a developing country such as India, there has
been noticeable progress in addressing the challenges posed by ID. However, there
is still a long way to go in low income countries in terms of developing effective,
accessible, and affordable interventions (Girimaji & Srinath, 2010).
Overall, attending school is essential for children with ID to learn
not only academic skills but also self-discipline, social and practical skills forcommunity living. Though they have more difficulty learning, experience andresearch has shown that by applying the right educational techniques, manyare capable of acquiring the basic skills of reading, writing, and arithmethic.

Click on the picture to watch
a video about opening
pathways to training andemployment for people withintellectual disabilities inAfricaInclusion versus segregation
The current trend is to educate children with ID as far as possible in normal
rather than special schools (inclusive education). This especially applies to thosewith milder forms of ID. However, there is limited evidence to compare the school
experience of children with mild to moderate ID in mainstream and segregatededucation (Cooney, 2006). Another approach is to conduct special classes forchildren with ID in normal schools (opportunity classes). More severely retarded
children may benefit from special schools. Whatever the approach, children
with ID need education − even more so than other children − to maximize theirdevelopment and chances in life.
Physical and occupational therapy
Physical therapy and occupational therapy may contribute to treatment
because ID is often accompanied by poor muscle tone, lack of coordination andslow development of motor skills. A therapist will be able to set up an individualized
treatment plan that may be conducted at home, school or institution.
Speech therapy
Speech and language are very important and highly specialized functions.
They serve the crucial purpose of communicating one's own feelings and thoughts
to others. Children with ID often show significant limitations in speech andlanguage. Research has shown that a systematic application of speech therapy

Intellectual disability

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Click on the picture to watch
a video clip from the the US
Centre for Disease Control
and Prevention about early
detection of developmental
disabilities (4:32).

20

IACAPAP Textbook of Child and Adolescent Mental Healthtechniques is effective in promoting speech, language and communication ability in
ID children. Additionally, augmentative and alternative communication strategies
can be used to help children with all levels of ID (Wilkinson & Hennig, 2007).
Family education and support
Children with ID have the same basic human rights and fundamental
freedoms as other children, including the rights to grow up in a family environment(United Nations, 2006). But the enhanced education and care needs of children canchallenge the family’s capacity to fulfill their functions and the ability to cope withexhaustion and isolation. Parents of children with ID generally reported needing
more relevant information, psychological support and respite care services (Bailey
et al, 1992). Support for families should meet these needs and prevent parents
or other family members from feeling overwhelmed. To this effect, the WHOsuggests that family support need to include communication of the diagnosis
and information about it, emotional support, family counselling and training,
involvement in health care decisions and respite care (World Health Organization,2010).

PREVENTION
Since ID is a life-long condition that cannot be “cured”, prevention is very
important. Prevention opportunities are summarize in Table C.1.3. Three levels of
prevention can be distinguished: primary, which refers to a set of approaches that
reduce or eliminate the risk of ID; secondary, which aims at an early diagnosis andtreatment; and tertiary, which seeks to limit disability.
Primary Prevention
Genetic counseling
Prospective parents, especially couples who already had a child with ID
are usually keen to know the risk of future children being affected. Sensitive andaccurate professional advice may help them make informed decisions about having
other children. Such counseling can be as simple as telling parents who have a childwith ID caused by a brain infection that the risk for their next child is very low,or it could be a very complicated matter needing costly tests when a genetic cause
is suspected.
There have been rapid advances in the field of genetics. A set of techniques
for the detection of genetic disorders called molecular genetics has evolved in
the last decade. Though currently costly, the techniques are likely to become lessexpensive and applicable for wider use. One example is the possibility of detecting
the presence of Down syndrome by performing a blood test on the mother during
early pregnancy.

Click on the picture to watcha one-hour long video fromthe US Centre for Disease
Control and Prevention
about early detection ofdevelopmental disabilities.

Prenatal•

Avoiding pregnancy before 21 years and after the age of 35 to reducecomplications of pregnancy and labor. The risk of Down syndrome andother chromosomal disorders also increases after the age of 35. Prenatal
screening/diagnosis of parents at risk.

•

Abnormalities in the growing fetus can often be detected during earlypregnancy. When a serious abnormality is found, parents may haveIntellectual disability

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IACAPAP Textbook of Child and Adolescent Mental Healththe option of terminating the pregnancy. Some of these procedures
are relatively safe, inexpensive and widely available (e.g., ultrasound).
Others, such as genetic testing, are expensive, technically complex, notwidely available and have their own risks.
Perinatal••

Pregnant women should add iodized salt to their diet to prevent iodine
deficiency and avoid exposure to harmful chemicals and substances
including alcohol, nicotine and cocaine.
Neonatal screening. There are some causes of ID for which definite
treatment is available in the form of medicines or special diets (e.g.,
PKU, galactosemia and hypothyroidism). Tests are available to detect
these conditions at birth. If they are detected and treatment is started
immediately, the occurrence of ID and other problems can be prevented.

Postnatal•••

Universal immunization of children with the WHO schedule ofrecommended vaccines
Prompt treatment for severe diarrhea and brain infections duringchildhood
Providing a safe, caring, enriching and stimulating environment forchildren from infancy to ensure proper intellectual development.

Secondary prevention
Some medical conditions associated with ID can be detected at birth. It isalso possible to define a group of babies who are at risk of having a greater chanceof developing ID as they grow up. These are children born prematurely, with a lowbirth weight (less than 2 kg), who have suffered asphyxia during birth, or have hada serious illness in the neonatal period. Following these infants up and monitoring
whether they start to lag behind can be helpful in preventing ID.
By and large, most children with severe ID can be recognized by the age of
6-12 months. Mild ID usually becomes evident by the age of two years. Intelligenceand social adaptation tests for the early detection of ID are now available, and canbe adapted to any culture with appropriate modifications. Once a baby is suspectedof or identified as having ID, it is necessary to provide appropriate stimulationfor optimal development within that child’s potential. These are techniques bywhich parents encourage and teach babies to use and develop their sensory (vision,
hearing and touch) and motor (grasping, reaching, manipulating, and transferring)faculties. Such stimulation is necessary for normal development. Children with
developmental delay need it all the more. Many manuals and guides have beendeveloped for early stimulation, for instance, Portage Guide to Early Stimulation
and Preschool Intervention for Developmentally Delayed Children (published by
the National Institute for the Mentally Handicapped, Secunderabad, India). Someof these models have been successfully adapted (WHO, 2004).

Associations andlinks•

American Association
on Intellectual andDevelopmental
Disabilities•

Australian Institute of
Health and Welfare•

Australasian Society
for Intellectual
Disability•

Center for Effective
Collaboration andPractice•

Council for Exceptional
Children (CEC)•

Down's Syndrome
Association (UK)•European Associationof Intellectual Disability
Medicine•

Independent Living
Canada•National Center on
Birth Defects andDevelopmental
Disabilities (US)•National Dissemination
Center for Children
with Disabilities (US)

Tertiary prevention
FamilyThe best place for children with ID to grow up in is with their own families.
Organized support services are definitely needed for families to adapt well andface the situation with confidence and the least amount of stress. Parents needIntellectual disability

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IACAPAP Textbook of Child and Adolescent Mental Health

Table C.1.3

Levels of prevention

Level

Primary Prevention(preventing theoccurrence intellectual
disability)

Secondary Prevention(halting diseaseprogression)
Tertiary Prevention(preventing complications
and maximizing
functioning)

ApproachInterventions

Health promotion

•
•
•
•

Health education, especially for adolescent girls
Improvement of nutritional status in the community
Optimum health care facilities
Improvements in pre, peri and postnatal care

•
•
•
•
•
•
•
•

Universal iodization of salt
Rubella immunization for women before pregnancy
Folic acid administration in early pregnancy
Genetic counseling
Prenatal screening for congenital malformation andgenetic disorders
Detection and care for high-risk pregnancies
Prevention of damage because of Rh incompatibility
Universal immunization for children•••

Neonatal screening for treatable disorders
Intervention with “at risk” babies
Early detection and intervention of developmental delay•

Stimulation, training and education, and vocational
opportunities
Mainstreaming / integration
Support for families
Parental self-help groups

Specific protection

Early diagnosis andtreatment

Disability limitation andrehabilitation•••

to learn appropriate ways of rearing and training the child. They will continue
to need assistance, guidance and support as the child grows up, especially duringadolescence, early adulthood and during periods of crisis.
Community
No program is likely to succeed without community involvement andparticipation. Services for individuals with ID include: medical and psychological(clinical) services. The first requirement is for appropriate facilities for a good
medical/health evaluation and accurate diagnosis. Doctors should be in a position
to recognize and manage treatable disorders such as hypothyroidism. Associatedproblems such as convulsions, sensory impairments and behavior problems canbe corrected or controlled with proper medical attention. There are many claims
that some drugs and herbal preparations can improve intelligence. But no drugs or
any other treatment can cure ID. It is desirable to have facilities for psychologicalassessment of strengths and weaknesses in the child which can form the basis
for future training. Adequate parental counseling in the initial stages is essential.
Doctors, nurses, psychologists and social workers can make a big difference toparents by correctly explaining the condition, options for treatment, likely
outcomes as well as by clarifying their doubts and helping them come to termswith having a handicapped child. Parental counseling also involves providing
emotional support and guidance. Communities need to be educated also about
the right of people with ID to lead their lives with respect and dignity, without
discrimination. It is possible to achieve this goal by bringing about positive changes

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IACAPAP Textbook of Child and Adolescent Mental Healthin societal awareness, attitudes and beliefs about this condition. Individuals withID should become an integral part of society, should not be isolated, segregated or
discriminated against in any fashion.
Governments have the responsibility to provide optimum services toadequately address the needs of individuals with ID. This includes strengthening
and effective utilization of existing services in the health, education and welfare
sectors.

PROGNOSIS
Many individuals with ID, particularly those of mild or moderate severity,
are able to live independently and make a contribution to their community.
Individuals with mild to moderate ID are frequently able to achieve some selfsufficiency and to lead happy and fulfilling lives. Individuals with severe ID areusually not able to live independently. Most people with Down syndrome who live
into their 40s and 50s develop an Alzheimer's-like dementia (McPhee et al, 1999).

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Arya R, Kabra M, Gulati S (2011). Epilepsy in children with
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Bailey DB, Blasco PM, Simeonsson RJ (1992). Needs expressedby mothers and fathers of young children withdisabilities. American Journal on Mental Retardation,
97:1-10.
Bearer CF, Santiago LM, O’Riordan MA et al (2005). Fatty
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alcohol consumption. Journal of Pediatrics, 146:824830.
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