Selections from Journal Watch Pediatrics and Adolescent Medicine

Copyright © 2007 Massachusetts Medical Society. All rights reserved.

Unraveling the causes of global developmental delay ▸

An etiology for the delay was identified in about 40% of children with GDD.

Global developmental delay (GDD) is defined as significant delay in two or more developmental domains (motor, speech/language, cognition, social/personal, and activities of daily living). The prevalence of GDD is estimated to be 1%–3%, and most children with GDD have impairment in all five domains. In this retrospective 10-year review, researchers sought to identify clinical features that predicted a specific etiology for the delay.

During the review period (1994–2004), 261 children younger than 5 years (mean age, 34 months) were referred to one academic pediatric neurologist for GDD. Children with a prior diagnosis of autism or who came for a second opinion were excluded. All patients with specific physical signs (e.g., microcephaly, asymmetry, long-tract signs on neurological examination, or possible history of perinatal asphyxia) underwent neuroimaging; most children also underwent karyotype and fragile-X testing. A cause of GDD was identified in 98 children (38%). The most common etiologies were intrapartum asphyxia (22%), cerebral dysgenesis (16%), chromosome abnormalities (13%), genetic syndromes (11%), psychosocial deprivation (11%), term periventricular leukomalacia (9%), and fetal alcohol syndrome (6%). Clinical factors that were associated with identified etiologies included microcephaly, abnormal neurological examination, dysmorphic features, and abnormal prenatal or perinatal history. Among 113 children without these clinical features, screening tests revealed an etiology in 18 patients. An etiology was discovered in about half the children without autistic features.

Comment ▸

The information in this study can help primary care pediatricians begin the diagnostic process for children with GDD when referral resources are limited or specialty consultations require long waiting periods. Diagnosis of GDD should trigger immediate …