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Intellectual Disability

By Stephen Brian Sulkes, MD, Professor of Pediatrics, Division of Neurodevelopmental and Behavioral Pediatrics, Golisano Children’s Hospital at Strong, University of Rochester School of Medicine and Dentistry

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Intellectual disability is characterized by significantly subaverage intellectual functioning (often expressed as an intelligence quotient < 70 to 75) combined with limitations of > 2 of the following: communication, self-direction, social skills, self-care, use of community resources, and maintenance of personal safety. Management consists of education, family counseling, and social support.

Intellectual disability is considered a neurodevelopmental disorder. Neurodevelopmental disorders are neurologically based conditions that appear early in childhood, typically before school entry and impair development of personal, social, academic, and/or occupational functioning. They typically involve difficulties with the acquisition, retention, or application of specific skills or sets of information. Neurodevelopmental disorders may involve dysfunction in attention, memory, perception, language, problem-solving, or social interaction. Other common neurodevelopmental disorders include attention-deficit/hyperactivity disorder, autism spectrum disorders, and learning disorders (eg, dyslexia).

Intellectual disability must involve early-childhood onset of deficits in both of the following

  • Intellectual functioning (eg, in reasoning, planning and problem solving, abstract thinking, learning at school or from experience)

  • Adaptive functioning (ie, ability to meet age- and socioculturally appropriate standards for independent functioning in activities of daily life)

Basing severity on IQ alone (eg, mild, 52 to 70 or 75; moderate, 36 to 51; severe, 20 to 35; and profound, < 20) is inadequate. Classification must also account for the level of support needed, ranging from intermittent to ongoing high-level support for all activities. Such an approach focuses on a person’s strengths and weaknesses, relating them to the demands of the person’s environment and the expectations and attitudes of the family and community.

About 3% of the population functions at an IQ of < 70, which is at least 2 standard deviations below the mean IQ of the general population (IQ of 100); if the need for support is considered, only about 1% of the population has severe intellectual disability. Severe intellectual disability occurs in families from all socioeconomic groups and educational levels. Less severe ID (requiring intermittent or limited support) occurs most often in lower socioeconomic groups, paralleling with observations that IQ correlates best with success in school and socioeconomic status rather than specific organic factors. Nevertheless, recent studies suggest that genetic factors play roles even in milder cognitive disabilities.


Intelligence is both genetically and environmentally determined. Children born to parents with intellectual disability are at increased risk of a range of developmental disabilities, but clear genetic transmission of intellectual disability is unusual. Although advances in genetics, such as chromosomal microarray analysis and whole genome sequencing of the coding regions (exome), have increased the likelihood of identifying the cause of an intellectual disability, a specific cause often cannot be identified. A cause is most likely to be identified in severe cases. Deficits in language and personal-social skills may be due to emotional problems, environmental deprivation, learning disorders, or deafness rather than intellectual disability.


A number of chromosomal anomalies and genetic metabolic and neurologic disorders can cause intellectual disability (see Table: Some Chromosomal and Genetic Causes of Intellectual Disability*).

Congenital infections that can cause intellectual disability include rubella and those due to cytomegalovirus, Toxoplasma gondii,Treponema pallidum, herpes simplex virus, or HIV. Prenatal Zika virus infection has been associated recently with congenital microcephaly and associated intellectual disability.

Prenatal drug and toxin exposurecan cause intellectual disability. Fetal alcohol syndrome is the most common of these conditions. Anticonvulsants such as phenytoin or valproate, chemotherapy drugs, radiation exposure, lead, and methylmercury are also causes.

Severe undernutrition during pregnancy may affect fetal brain development, resulting in intellectual disability.


Complications related to prematurity, CNS bleeding, periventricular leukomalacia, breech or high forceps delivery, multiple births, placenta previa, preeclampsia, and perinatal asphyxia may increase the risk of intellectual disability. The risk is increased in small-for-gestational-age infants; intellectual impairment and decreased weight share similar causes. Very low- and extremely low-birth-weight infants have variably increased chances of having intellectual disability, depending on gestational age, perinatal events, and quality of care.


Undernutrition and environmental deprivation (lack of physical, emotional, and cognitive support required for growth, development, and social adaptation) during infancy and early childhood may be the most common causes of intellectual disability worldwide. Viral and bacterial encephalitides (including AIDS-associated neuroencephalopathy) and meningitides (eg, pneumococcal infections, Haemophilus influenzae infection), poisoning (eg, lead, mercury), and accidents that cause severe head injuries or asphyxia may result in intellectual disability.

Some Chromosomal and Genetic Causes of Intellectual Disability*



5p-deletion (Cri du chat syndrome)

Down syndrome

Fragile X syndrome

Klinefelter syndrome


Trisomy 13 (Patau syndrome)

Trisomy 18 (Edwards syndrome)

Turner syndrome

Autosomal recessive disorders:

  • Aminoacidurias and acidemias

  • Galactosemia

  • Maple syrup urine disease

  • Phenylketonuria

  • Lysosomal defects

  • Gaucher disease

  • Hurler syndrome (mucopolysaccharidosis)

  • Niemann-Pick disease

  • Tay-Sachs disease

  • Peroxisomal disorders

X-linked recessive disorders:

  • Hunter syndrome (a variant of mucopolysaccharidosis)

  • Lesch-Nyhan syndrome (hyperuricemia)

  • Oculocerebrorenal (Lowe) syndrome

Autosomal dominant disorders:

  • Myotonic dystrophy

  • Neurofibromatosis

  • Tuberous sclerosis

Autosomal recessive disorders:

  • Primary microcephaly

*This is a partial list of disorders.

Symptoms and Signs

The primary manifestations are

  • Slowed acquisition of new knowledge and skills

  • Immature behavior

  • Limited self-care skills

Some children with mild intellectual disability may not develop recognizable symptoms until preschool age. However, early identification is common among children with moderate to severe intellectual disability and among children in whom intellectual disability is accompanied by physical abnormalities or signs of a condition (eg, cerebral palsy) that may be associated with a particular cause of intellectual disability (eg, perinatal asphyxia). Delayed development is usually apparent by preschool age. Among older children, hallmark features are a low IQ combined with limitations in adaptive behavior skills. Although developmental patterns may vary, it is much more common for children with intellectual disability to experience slow progress than developmental arrest.

Behavioral disorders are the reason for most psychiatric referrals and out-of-home placements for people with intellectual disability. Behavioral problems are often situational, and precipitating factors can usually be identified. Factors that predispose to unacceptable behavior include

  • Lack of training in socially responsible behavior

  • Inconsistent discipline

  • Reinforcement of faulty behavior

  • Impaired ability to communicate

  • Discomfort due to coexisting physical problems and mental health disorders such as depression or anxiety

In institutional settings (now uncommon in the US), overcrowding, understaffing, and lack of activities contribute to both behavior challenges and to limited functional progress. Avoidance of long-term placement in large congregate care settings is extremely important in maximizing the individual's success.

Comorbid disorders

Comorbid disorders are common, particularly attention-deficit/hyperactivity disorder, mood disorders (depression, bipolar disorder), autism spectrum disorders, anxiety disorder, and others.

Some children may have cerebral palsy or other motor deficits, language delays, or hearing loss. Such motor or sensory impairments can mimic cognitive impairment but are not in themselves causes of it. As children mature, some develop anxiety or depression if they are socially rejected by other children or if they are disturbed by the realization that others see them as different and deficient. Well-managed, inclusive school programs can help maximize social integration, thereby minimizing such emotional responses.


  • Developmental and intelligence assessment

  • Imaging of the CNS

  • Genetic testing

For suspected cases, development and intelligence are assessed, typically by early intervention or school staff. Standardized intelligence tests can measure subaverage intellectual ability but are subject to error, and results should be questioned when they do not match clinical findings; illness, motor or sensory impairments, language barriers, or cultural differences may hamper a child’s test performance. Such tests also have a middle-class bias but are generally reasonable in appraising intellectual ability in children, particularly in older ones.

Developmental screening tests such as the Ages and Stages Questionnaire (ASQ) or the Parents’ Evaluation of Developmental Status (PEDS) provide gross assessments of development for young children and can be given by a physician or others. Such measures should be used only for screening and not as substitutes for standardized intelligence tests, which should be given by qualified psychologists. A neurodevelopmental assessment should be initiated as soon as developmental delays are suspected.

A developmental pediatrician or pediatric neurologist should investigate all cases of

  • Moderate to severe developmental delays

  • Progressive disability

  • Neuromuscular deterioration

  • Suspected seizure disorders

Establishing intellectual disability is followed by efforts to determine a cause. Accurate determination of the cause may provide a developmental prognosis, suggest plans for educational and training programs, help in genetic counseling, and relieve parental guilt.

Diagnosis of cause

History (including perinatal, developmental, neurologic, and familial) may identify causes. An algorithm for the diagnostic evaluation of the child with intellectual disability (global developmental delay) has been proposed by the Child Neurology Society.

Cranial imaging (eg, MRI) can show CNS malformations (as seen in neurodermatoses such as neurofibromatosis or tuberous sclerosis), treatable hydrocephalus, or more severe brain malformations such as schizencephaly.

Genetic tests may help identify disorders.

  • Standard karyotyping shows Down syndrome (trisomy 21)

  • Chromosome microarray identifies copy number variants such as might be found in 5p-deletion (cri du chat syndrome) or DiGeorge syndrome (chromosome 22q deletion)

  • Direct DNA studies identify Fragile X syndrome

Chromosomal microarray analysis has become the preferred investigative tool; it can be used to identify specifically suspected syndromes and when no specific syndrome is suspected. It affords opportunities for identifying otherwise unrecognized chromosome disruptions but requires parental testing to interpret positive findings. Whole genome sequencing of the coding regions(whole exome sequencing) is a newer method that may uncover additional causes of intellectual disability.

Clinical manifestations (eg, failure to thrive, lethargy, vomiting, seizures, hypotonia, hepatosplenomegaly, coarse facial features, abnormal urinary odor, macroglossia) may suggest genetic metabolic disorders. Isolated delays in sitting or walking (gross motor skills) and in pincer grasp, drawing, or writing (fine motor skills) may indicate a neuromuscular disorder.

Specific laboratory tests are done depending on the suspected cause (see Table: Tests for Some Causes of Intellectual Disability). Visual and auditory assessments should be done at an early age, and screening for lead poisoning is often appropriate.

Tests for Some Causes of Intellectual Disability

Suspected Cause

Indicated Tests

Single major anomaly or multiple minor anomalies

Family history of cognitive disability

Chromosome analysis

Chromosomal microarray analysis

Cranial MRI*

Possibly exome sequencing

Failure to thrive

Idiopathic hypotonia

Genetic metabolic disorders

HIV screening in high-risk infants

Nutritional and psychosocial history

Urine and serum amino acid and organic acid analysis and enzyme studies for storage diseases or peroxisomal disorders

Muscle enzymes

SMA 12 (includes albumin, alkaline phosphatase, AST, total bilirubin, BUN, Ca, cholesterol, creatinine, glucose, P, total protein, and uric acid)

Bone age, skeletal x-rays



Cranial MRI*

Blood calcium, phosphorus, magnesium, amino acids, glucose, and lead levels

Cranial abnormalities (eg, premature closure of the sutures, microcephaly, macrocephaly, craniostenosis, hydrocephalus)

Cerebral atrophy

Cerebral malformations

CNS hemorrhage


Intracranial calcifications due to toxoplasmosis, cytomegalovirus infection, or tuberous sclerosis

Cranial MRI*

TORCH screening

Urine culture for virus

Chromosome analysis

Chromosomal microarray analysis

*After neurologic consultation.

SMA = sequential multiple analyzer; TORCH =toxoplasmosis, rubella, cytomegalovirus, herpes.


Many people with mild to moderate intellectual disability can support themselves, live independently, and be successful at jobs that require basic intellectual skills. Life expectancy may be shortened, depending on the etiology of the disability, but health care is improving long-term health outcomes for people with all types of developmental disabilities. People with severe intellectual disability are likely to require life-long support. The more severe the cognitive disability and the greater the immobility, the higher the mortality risk.


  • Early intervention program

  • Multidisciplinary team support

Treatment and support needs depend on social competence and cognitive function. Referral to an early intervention program during infancy may prevent or decrease the severity of disability resulting from a perinatal insult. Realistic methods of caring for affected children must be established.

Family support and counseling are crucial. As soon as intellectual disability is confirmed or strongly suspected, the parents should be informed and given ample time to discuss causes, effects, prognosis, education and training of the child, and the importance of balancing known prognostic risks against negative self-fulfilling prophecies in which diminished expectations result in poor functional outcomes later in life. Sensitive ongoing counseling is essential for family adaptation. If the family’s physician cannot provide coordination and counseling, the child and family should be referred to a center with a multidisciplinary team that evaluates and serves children with intellectual disability; however, the family’s physician should provide continuing medical care and advice.

A comprehensive, individualized program is developed with the help of appropriate specialists, including educators.

A multidisciplinary team includes

  • Neurologists or developmental-behavioral pediatricians

  • Orthopedists

  • Physical therapists and occupational therapists (who assist in managing comorbidities in children with motor deficits)

  • Speech pathologists and audiologists (who help with language delays or with suspected hearing loss)

  • Nutritionists (who help with treatment of undernutrition)

  • Social workers (who help reduce environmental deprivation and identify key resources)

Affected children with concomitant mental health disorders such as depression may be given appropriate psychoactive drugs in dosages similar to those used in children without intellectual disability. Use of psychoactive drugs without behavioral therapy and environmental changes is rarely helpful.

Every effort should be made to have children live at home or in community-based residences. Although the presence of a child with intellectual disability in the home can be disruptive, it can also be extremely rewarding. The family may benefit from psychologic support and help with daily care provided by day care centers, homemakers, and respite services. The living environment must encourage independence and reinforce learning of skills needed to accomplish this goal.

Whenever possible, children with intellectual disability should attend an appropriately adapted day care center or school with peers without cognitive disability. The Individuals with Disabilities Education Act (IDEA), the primary US special education law, stipulates that all children with disabilities should receive appropriate educational opportunities and programming in the least restrictive and most inclusive environments.

As people with intellectual disability reach adulthood, an array of supportive living and work settings is available. Large residential institutions are being replaced by small group or individual residences matched to the affected person’s functional abilities and needs.


Genetic counseling may help high-risk couples understand possible risks. If a child has intellectual disability, evaluation of the etiology can provide the family with appropriate risk information for future pregnancies.

Prenatal testing may be done in high-risk couples who choose to have children. Prenatal testing enables couples to consider pregnancy termination and subsequent family planning. Testing includes

  • Amniocentesis or chorionic villus sampling

  • Ultrasonography

  • Maternal serum alpha-fetoprotein

Amniocentesis or chorionic villus sampling may detect inherited metabolic and chromosomal disorders, carrier states, and CNS malformations (eg, neural tube defects, anencephaly). Amniocentesis may be considered for all pregnant women > 35 yr (because their risk of having an infant with Down syndrome is increased) and for women with family histories of inherited metabolic disorders.

Ultrasonography may also identify CNS defects.

Maternal serum alpha-fetoprotein is a helpful screen for neural tube defects, Down syndrome, and other abnormalities.

Vaccines have all but eliminated congenital rubella and pneumococcal and H. influenzaemeningitis as causes of intellectual disability.

Continuing improvements in and increased availability of obstetric and neonatal care and the use of exchange transfusion and Rh0(D) immune globulin to prevent hemolytic disease of the newborn have reduced the incidence of intellectual disability; the increase in survival of very low-birth-weight infants has kept the prevalence constant.

Key Points

  • Intellectual disability involves slow intellectual development with subaverage intellectual functioning, immature behavior, and limited self-care skills that in combination are severe enough to require some level of support.

  • A number of prenatal, perinatal, and postnatal disorders can cause intellectual disability, but a specific cause often cannot be identified.

  • Deficits in language and personal-social skills may be due to emotional problems, environmental deprivation, learning disorders, or deafness rather than intellectual disability.

  • Screen using tests such as the Ages and Stages Questionnaire (ASQ) or the Parents’ Evaluation of Developmental Status (PEDS) and refer suspected cases for standardized intelligence testing and neurodevelopmental assessment.

  • Search for specific causes with cranial imaging, genetic tests (eg, chromosomal microarray analysis, exome sequencing), and other tests as clinically indicated.

  • Provide a comprehensive, individualized program (including family support and counseling) using a multidisciplinary team.

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