ANALYSIS OF CLINICAL FEATURES PREDICTING ETIOLOGIC YIELD IN THE ASSESSMENT OF GLOBAL DEVELOPMENTAL DELAY

Objectives: Global developmental delay is a common reason for presentation for neurologic evaluation. However the optimal diagnostic work-up for developmental delay has not yet been precisely defined. This study examined the role of clinical features in predicting the identification of an underlying cause for a child's global developmental delay. Methods: Over a 10-year inclusive interval, the case records of all consecutive children less than 5 years of age referred to a single ambulatory practice setting for global developmental delay were systematically reviewed. The utility of clinical features in predicting the identification of a specific underlying cause for a child's delay was tested using χ 2 -square analysis. Results: A total of 261 patients eventually met criteria for study inclusion. Mean age at initial evaluation was 33.6 months. An underlying cause was found in 98 children (38%). Commonest etiologic groupings were; genetic syndrome/chromosomal abnormality, intrapartum asphyxia, cerebral dysgenesis, psychosocial deprivation and toxin exposure. Factors associated with the ability to eventually identify an underlying cause included; female gender (40/68 [59%] vs. 58/193 [30%], χ 2 =17.8, p<0.001), abnormal prenatal/perinatal history (52/85 [61%] vs. 46/176 [26%], χ 2 =30.0, p<0.001), absence of autistic features (85/159 [54%] vs. 13/102 [13%], χ 2 =43.9, p<0.001), presence of microcephaly (26/40 [65%] vs. 72/221 [32%], χ 2 =15.2, p<0.001), abnormal neurological examination (52/71 [73%] vs. 46/190 [24%], χ 2 =53.0, p<0.001) and dysmorphic features (44/84 [52%] vs. 54/177 [31%], χ 2 =11.6, p=0.001). In 113 children without any abnormal features identified on history or physical examination, routine screening investigations (karyotype, FMR1 and neuroimaging) revealed an underlying etiology in 18 (16%). Conclusion: Etiologic yield in an unselected series of young children with global developmental delay is close to 40% overall and 55% in the absence of any co-existing autistic features. Clinical features are readily apparent that may enhance an expectation of a successful etiologic search. Even in the absence of these clinical features, screening investigations may yield an underlying cause and thus should be routinely undertaken.

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