Intellectual Disability

Neurodevelopmental difficulty with multiple etiologies, depicted by deficits in intellectual and adaptive functioning.

Fundamental Information

  1. Neurodevelopmental difficulty with multiple etiologies, depicted by deficits in intellectual and adaptive functioning
  2. Presents before 18 years of age
  3. Children with global developmental delay at younger ages are more likely to be diagnosed with intellectual disability at an older age, when more reliable IQ testing can be performed

Evaluation and Diagnosis

  1. Comprehensive medical history, prenatal and birth histories
  2. Full family history of at least three or more generations
  3. Full physical and neurologic examinations, paying interest to dysmorphic features and neurologic or behavioral signs that may point to a specific recognizable syndrome or diagnosis
  4. IQ/cognitive testing
  5. Clinical genetic evaluation, including chromosomal microarray, screening for inborn errors of metabolism: serum total homocysteine, acyl-carnitine profile, amino acids; and urine organic acids, glycosaminoglycans, oligosaccharides, purines, pyrimidines, GAA/creatine metabolites; fragile X testing
  6. Brain magnetic resonance imaging (MRI) is not a routine part of evaluation but is done if workup described previously reveals microcephaly, macrocephaly, or abnormal findings on neurologic examination


  1. The keystone of management for intellectual disability is a multidisciplinary comprehensive plan developed by the child’s special educators, language therapists, behavioural therapists, occupational therapists, teachers, parents, and medical professionals
  2. Early identification of children with developmental delays is fundamental
  3. Start early intervention services for children from birth to 3 years of age, and start early childhood education services for children aged 3 to 5 years
  4. Adaptive equipment, individualized education programs, extra time, family or other support persons
  5. Treatment of pain (constipation, neuropathic pain, dental caries), emotional distress, maladaptive behaviours (kicking, rocking, screaming)
  6. Written, verbal, and/or picture communication
  7. Attention to dosing of anaesthetics to avoid adverse effects common in children with intellectual disability
  8. Protection from and close surveillance for sexual abuse/assault

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