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Etiologic yield of subspecialists' evaluation of young children with global developmental delay
M I Shevell1, A Majnemer, P Rosenbaum
1Departments of Neurology/Neurosurgery, Pediatrics, and Epidemiology and Biostatistics and School of Physical & Occupational Therapy, McGill University, Montreal, Quebec, Canada.
Insights
Diagnosing the cause of global developmental delay in young children is often possible. Specific historical and physical findings, especially the absence of autistic traits, improve the chances of identifying an etiology.
Area of Science:
- Pediatrics
- Neurology
- Genetics
Background:
- Global developmental delay (GDD) in children under five presents diagnostic challenges.
- Identifying the underlying etiology is crucial for appropriate management and prognosis.
Purpose of the Study:
- To determine the diagnostic yield of subspecialist evaluations for GDD in young children.
- To identify predictors of finding an etiologic diagnosis in this population.
Main Methods:
- Prospective enrollment of children under five with suspected developmental delay over 18 months.
- Diagnostic yield assessed after clinical evaluations and laboratory tests.
Main Results:
- An etiology was identified in 44 out of 99 children with GDD.
- Cerebral dysgenesis, hypoxic-ischemic encephalopathy, toxin exposure, and chromosomal abnormalities were common diagnoses.
- Absence of autistic traits, specific historical factors (family history, toxin exposure, perinatal issues), and physical findings (dysmorphology, microcephaly, focal motor deficits) predicted a higher diagnostic yield.
Conclusions:
- An etiologic diagnosis for GDD is frequently achievable in young children.
- The presence of specific historical and physical findings, particularly the absence of autistic features, significantly aids in identifying the cause.
Objective:
To determine the etiologic yield of subspecialists' evaluation of young children with global developmental delay. In addition, variables that may predict finding an underlying etiology were also identified.
Methods:
All children <5 years of age, referred over an 18-month period to subspecialty services for initial evaluation of a suspected developmental delay, were prospectively enrolled. Diagnostic yield was ascertained after the completion of clinical assessments and laboratory investigations requested by the evaluating physician.
Results:
Ninety-nine children (71 boys) were found to have global developmental delay; 96% had a mild or moderate delay documented. An etiologic diagnosis was determined in 44. Four diagnoses (cerebral dysgenesis, hypoxic-ischemic encephalopathy, toxin exposure, chromosomal abnormalities) accounted for 34 of 44 (77%) of the diagnoses made. The presence of co-existing autistic traits was associated with significantly decreased diagnostic yield (0/19 vs 44/80, P <.0001), whereas specific historical features (eg, family history, toxin exposure, and perinatal difficulty; 23/32 vs 21/67, P =.0002) and findings on physical examination (eg, dysmorphology, microcephaly, and focal motor findings; 35/48 vs 9/51, P <.0001) were significantly associated with identifying a diagnosis. Multiple logistic regression analysis identified antenatal toxin exposure, microcephaly, focal motor findings, and the absence of autistic traits as significant predictor variables for the identification of an etiology.
Conclusion:
An etiologic diagnosis is often possible in the young child with global developmental delay, particularly in the absence of autistic features. Etiologic yield is augmented by presence of specific findings on history or physical examination on initial assessment.