APPROACH TO A CHILD WITH INTELLECTUAL

IMPAIRMENT
 The approach outlined here may be useful in assessing the etiology for clinical problems such as
developmental delay or developmental regression in the long- or short-case setting.
 It is imperative to differentiate between static and progressive causes of intellectual
impairment.
 Remember that those neurodegenerative conditions predominantly affecting grey matter may
present with dementia and seizures, while those affecting white matters tend to have spasticity
problems, cortical deafness, and blindness.

Examination
Introduce yourself to the patient and parents.
Observe the child for 30 seconds.

 Note the age and sex of the child to allow age and sex-appropriate neurodegenerative
conditions to be borne in mind. (Examples include males with X-linked conditions such as fragile
X, Menkes, adrenoleukodystrophy (ALD), and Hunter syndromes; infants with conditions such as
tuberous sclerosis complex (TSC) and epileptic spasms; older children with disorders such as
subacute sclerosing panencephalitis (SSPE), and Wilson disease (WD).
 Stand back and scan for obvious dysmorphic features (e.g., Down syndrome,
mucopolysaccharidoses), neurocutaneous stigmata (e.g., cutaneous findings of TSC, ataxia-
telangiectasia [AT], Sturge-Weber syndrome [SWS], incontinentia pigmenti [IP]), and other skin
abnormalities such as thick skin with the mucopolysaccharidoses (MPSs).
 Note any abnormal posturing, such as spastic quadriparesis with CP, late stages of white matter
degenerations; hypotonic posturing in infants with atonic CP, Down syndrome, and various
degenerative conditions
 Note any involuntary movements, such as extrapyramidal movements (CP, WD), static tremor
(WD), intention tremor (WD, Friedreich), myoclonic jerks (SSPE), or seizure activity (CP, TSC,
peroxisomal disorders [e.g., Zellweger], degenerative grey matter disorders [gangliosidoses],
some white matter diseases such as ALD).
 Note the growth parameters, particularly the head circumference. This may be large with
several inherited neurodegenerative disorders (Gaucher, mucopolysaccharidoses [MPSs]) or
hydrocephalus or chronic subdural effusion. On the other hand, head circumference may be
small with several syndromal diagnoses (Cornelia de Lange, Seckel), intrauterine infections
(TORCH), or autosomal recessive microcephaly.

Now start a physical examination of the child

 Measure the head circumference yourself and request progressive percentile measurements.
Height is infrequently a useful guide, as most of the disorders can be associated with short
stature (genetic disorders, hypothyroidism, fetal alcohol spectrum disorder [FASD], TORCH). In
addition, marked obesity can indicate Prader–Willi syndrome (P–WS), hypothyroidism, or
pseudohypoparathyroidism.
 Request the progressive percentiles of these parameters.
 After measuring it, inspect the head carefully for scars and shunts, and palpate for fontanelle
and suture patency in infants' shunts or bony defects (e.g., repaired encephalocele).
Transillumination may be worth mentioning (for hydrocephalus, hydranencephaly, subdural
effusion, or porencephaly),
 Feel the hair in male infants (in Menkes kinky hair syndrome, it feels like steel wool). Then,
assess the face from a dysmorphic perspective.
 Note the size and position of the ears, and then make a detailed evaluation of the eyes, looking
at external features (e.g., epicanthic folds [Down], corneal clouding [MPSs, congenital rubella]),
function (e.g., blindness, squint)
 After this, the hearing should be tested (e.g., impairment with intrauterine CMV, kernicterus,
MPSs).
 Ophthalmological findings (e.g., cataracts, optic atrophy, cherry red spot [gangliosidosis]).
 Assess the nose, mouth, chin, neck, and hairline for dysmorphic findings.
 Also, examine the neck for goiter (hypothyroidism).
 Next, a neurological assessment can be performed. Depending on the ability of the patient, this
may be commenced with a full gait examination, including checking the back for scoliosis (e.g.,
CP, Friedreich ataxia [FRDA], AT), kyphosis (MPSs), and gibbus (GM1 gangliosidosis), or with a
gross motor developmental assessment.
 Assess whether the patient has muscle weakness. This includes a comment on any facial
myopathy and muscle bulk. Then, in the cooperative child, ask them to rise from the floor,
assessing for Gowers' maneuver. Certain congenital muscular dystrophies, myotonic dystrophy,
and DMD are associated with intellectual disability.
 This starts the examination of the lower and upper limbs, both for dysmorphic features and
neurologically, especially for tone (e.g., hypertonia with CP, PKU, Gaucher; hypotonia with
hypotonic CP, Down, PWS) and reflexes (e.g., hyperreflexia with CP; hyporeflexia with
metachromatic leucodystrophy [MLD] which causes peripheral neuropathy).
 The abdomen can then be examined for hepatosplenomegaly (intrauterine TORCH infection,
Gaucher, Niemann-Pick, Hurler, GSDs) and the genitalia for dysmorphic features (various
malformation syndromes) or large testes in the post-pubertal male (fragile X).
 Next, the chest is examined for dysmorphic features and the precordium for any evidence of
cardiomegaly (e.g., MPSs) or congenital valvular heart disease (e.g., 22q11.2 deletion [CATCH-
22], Down, Noonan, other malformation syndromes).
Source: Intellectual disability: definition, etiological factors, classification, diagnosis, treatment
and prognosis.