Clinical profile of children with developmental delay and microcephaly

Area of Science:

• Pediatric Neurology
• Developmental Pediatrics
• Clinical Genetics

Background:

• Developmental delay is a significant concern in pediatrics.
• Microcephaly, a condition characterized by a smaller head circumference, is often associated with neurological impairments.
• Understanding the profile of children with both conditions is crucial for diagnosis and management.

Purpose of the Study:

• To investigate the clinical, radiological, and etiological characteristics of children presenting with developmental delay and microcephaly.
• To compare the profile of children with microcephaly to those with developmental delay but normal head circumference.

Main Methods:

• Evaluation of children with developmental delay at a child development clinic.
• Calculation of Z scores for head circumference using WHO charts.
• Comparison of clinical, radiological, and etiological profiles between microcephalic and normocephalic children.

Main Results:

• Out of 414 children with developmental delay, 231 (55.8%) had microcephaly (Z score ≤ -3).
• Children with microcephaly exhibited significantly lower developmental quotients (DQ) and higher rates of comorbidities, including epilepsy (42.9%) and visual abnormalities (26.4%).
• Secondary microcephaly was often associated with cerebral palsy (69.7%), congenital infections, inborn errors of metabolism, post-meningoencephalitis, malformations, and syndromic causes.

Conclusions:

• Microcephaly in children with developmental delay is linked to reduced DQ and increased comorbidities.
• Spastic cerebral palsy is a common comorbidity associated with microcephaly in this population.
• Neuroimaging findings were abnormal in a high percentage (88.1%) of evaluated cases, highlighting the utility of neuroimaging in identifying underlying causes.