Examination feature | Potential clinical implication |
General observations and appearance |
Sadness, anxiety, attention span, impulsivity, activity | Emotional or behavioral problems may affect learning |
Ability to communicate and respond to instructions | Measure of language skills other than phonologic processing |
Stigmata of genetic syndromes or prenatal exposures | May suggest a genetic syndrome or prenatal exposure. As examples: - Down syndrome: Upslanting palpebral fissures, epicanthic folds, brachycephaly
- Fetal alcohol spectrum disorder: Short palpebral fissures, thin vermillion border, smooth philtrum
- Fragile X syndrome: Narrow face, large jaw, long prominent ears, large testes (after puberty)
- Klinefelter syndrome: Tall stature, small testes
- Turner syndrome: Short stature, webbed neck, micrognathia, short metacarpals, nail dysplasia, widely spaced nipples
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Growth parameters |
Head circumference, height, and weight | Growth parameters outside the ranges expected for age may indicate need for further evaluation. As examples: - Head circumference or height and weight <10th percentile may suggest fetal alcohol syndrome
- Children with fragile X syndrome usually have head circumference >50th percentilile
- Short stature is a feature of Turner syndrome
- Tall stature is a feature of Klinefelter syndrome
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Skin |
Café-au-lait spots, ash leaf spots, adenoma sebaceum | Neurocutaneous disorders (eg, neurofibromatosis, tuberous sclerosis) are associated with learning problems |
Genitalia |
Delayed sexual maturation | May be associated with Turner syndrome, Klinefelter syndrome |
Small testes | Suggestive of Klinefelter syndrome |
Large testes (after puberty) | Suggestive of fragile X syndrome |
Sensory screening |
Hearing assessment | Hearing impairment may affect learning |
Vision assessment | Vision impairment may affect learning |
Neurologic examination |
Asymmetry, increased or decreased muscle tone | Cerebral palsy |
Coordination problems | Developmental coordination disorder |
Weakness | Muscular dystrophy |
Tics | Tourette syndrome |
Staring episodes | Seizure disorder |