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

Background and Objective: Neurological diseases and neuromuscular abnormalities are intricate conditions that impact both the central and peripheral nervous systems. This study aimed to examine the frequency, patterns, phenotypic features, and familial characteristics of pediatric neurological disorders and neuromuscular anomalies in the Sialkot district of Pakistan. Methodology: A cross-sectional study was performed, with patients recruited from tertiary care hospitals throughout the Sialkot district from February, 2024 to December, 2024. Descriptive statistics were used to analyses and compare the data. Results: We collected 395 index cases, 65% of which were males. The average age was 10.2±7.2 years. Most of these individuals lived in rural areas (68%) and came from Punjabi-speaking families (96%). Neurological disorders were more prevalent (61%) than neuromuscular anomalies (39%). Intellectual disability (ID) (25%) was the most common neurological disorder, followed by Down syndrome (10%), developmental delay (6.5%), and pediatric seizures (5.5%). Cerebral palsy (CP) was the most common neuromuscular disorder, making up 38.7% of cases. There were also spastic (18.9%), athetoid (14.4%), and ataxic (3.5%) subtypes. There were more sporadic cases (68%) than familial cases (32%). Parental consanguinity was documented in 52% of cases. Most of the time, first-order births were 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.