Spectrum and epidemiology of neurological disorders and neuromuscular anomalies in pediatric population of Sialkot, Pakistan

Abstract

Background and Objective: Neurological disorders and neuromuscular anomalies are complex conditions affecting the central and peripheral nervous systems. This study was aimed to investigate the prevalence patterns, phenotypic characteristics, and familial attributes of pediatric neurological disorders and neuromuscular anomalies in Sialkot district of Pakistan.

Methodology: A cross-sectional study was conducted, and patients were recruited from tertiary care hospitals across Sialkot district during February to December 2024. Data analyses and comparisons were made using descriptive statistics.

Results: We collected of 395 index cases were recruited (65% males) with a mean age of 10.2±7.2 years. The majority resided in rural areas (68%) and belonged to Punjabi-speaking families (96%). Neurological disorders were more common (61%) than neuromuscular anomalies (39%). Among the neurological disorders, intellectual disability (ID) (25%) was the most frequent, followed by Down syndrome (10%), developmental delay (6.5%), and pediatric seizures (5.5%). In neuromuscular anomalies, cerebral palsy (CP) was predominant (38.7%), with spastic (18.9%), athetoid (14.4%), and ataxic (3.5%) subtypes observed. There were greater number of sporadic cases (68%) as compared to familial (32%). Parental consanguinity was reported in 52% cases. First-order births were most commonly affected (30%).

Conclusion:This study points out a substantial frequency of pediatric neurological disorders and neuromuscular anomalies in the Sialkot district, particularly emphasizing intellectual disability (ID) and cerebral palsy (CP). High levels of consanguinity and familial aggregation indicate a significant genetic influence. These findings highlight the pressing necessity for improved community-based screening, genetic counseling, and enhanced access to multidisciplinary care, especially in rural areas.