Objective: The aim of this study was to determine the etiologic yield of the neurologic assessment of a consecutive cohort of developmentally delayed children.
Study design: A retrospective chart review was carried out on all patients referred to a single university-based pediatric neurologist for evaluation of global developmental delay from July 1991 to December 1993. Patients referred because of isolated speech or motor delay or autism or those who had been previously evaluated by another neurologist were excluded.
Results: A total of 77 patients were identified; 47 were male, and 62 were referred by a pediatrician. Neurologic evaluation did not confirm global delay in 10, and 8 did not complete diagnostic evaluation; one child was included in both groups. Of the remaining 60, an etiologic diagnosis was suspected by the referring physician at the time of referral in 13. Although parents suspected a delay at a mean age of 0.66 (+/- 0.69) year, children were examined by the neurologist at a mean age of 3.58 (+/- 2.42) years. Twenty-five were mildly delayed, 23 were moderately delayed, and 12 were severely delayed. Diagnostic studies (history, physical examination, and selected investigations, including screens for metabolic disease, karyotype, fragile X testing, electroencephalography, and neuroimaging) yielded an etiologic diagnosis in 38 (63.3%) of the 60 patients. Etiologic categories included cerebral dysgenesis (16.7%), hypoxic-ischemic encephalopathy (10.0%), chromosomal abnormalities (10%), toxins (8.3%), metabolic disorders (5.0%), and neurocutaneous (3.3%), neuromuscular (3.3%), genetic/dysmorphic (3.3%), and epileptic (3.3%) syndromes. Etiologic yield was equivalent across categories and degree of developmental delay.
Conclusion: Referral to a pediatric neurologist and application of a selected battery of investigations yield etiologic findings with important implications with respect to management, prognosis, and recurrence risk estimate in a significant portion of globally delayed children.