The Spectrum of Inherited Neurological Disorders: Experience from Paediatric Neurology Department of A Tertiary Care Hospital

Syed Zubair Shah; Tipu  Sultan; Sara  Idrees; Syed Hussain  Shah; Shumaila  Rafique; Javeria Raza  Alvi

doi:10.51253/pafmj.v76iSUPPL-5.10145

Authors

Syed Zubair Shah Department of Pediatric Neurology, University of Child Health Sciences and the Children’s Hospital, Lahore, Pakistan
Tipu Sultan Department of Pediatric Neurology, University of Child Health Sciences and the Children’s Hospital, Lahore, Pakistan
Sara Idrees Department of Radiology, Cantt General Hospital Lahore Pakistan
Syed Hussain Shah Department of Rehab Medicine, Combined Military Hospital Lahore/National University of Medical Sciences (NUMS) Pakistan
Shumaila Rafique Department of Pediatric Neurology, University of Child Health Sciences and the Children’s Hospital, Lahore, Pakistan
Javeria Raza Alvi Department of Pediatric Neurology, University of Child Health Sciences and the Children’s Hospital, Lahore, Pakistan

DOI:

https://doi.org/10.51253/pafmj.v76iSUPPL-5.10145

Keywords:

Inherited neurological disorders, Whole Exome Sequence

Abstract

Objective: To assess the spectrum of inherited neurological disorders presenting in a tertiary care hospital of Pakistan using Whole Exome Sequence (WES) analysis.

Study Design: Observational cross-sectional study.

Place and Duration of the Study: Department of Pediatric Neurology, University of Child Health Sciences and the Children’s Hospital, Lahore, Pakistan, from July 2021 to March 2023.

Methodology: This study included 423 pediatric patients, from both genders, between the ages of 1 month to 18 years, with clinical suspicion of inherited neurological disorders. Samples were taken from the patients for WES examination to reach a genetic diagnosis.

Results: Among the 423 patients, 251 (59.34%) were males and 172(40.66%) were female. Ages were distributed in the following categories: 271 (64.10%) were found to be 0-5 years old, 85 (22.50%) were 6-10 years old, 45(10.60%) were 11-15 years old and 12 (2.80%) were 16-20 years old. Consanguinity was noted among parents of 376(88.89%) patients. Occurrence of developmental disorders was noted in 229 (110 WES positive/119 WES negative, DY 48.00%) patients, 66 (31 WES negative/35 WES positive, DY 53.00%) patients had neurometabolic disorders, 54 (21 WES negative/33 WES positive, DY 61.10%) patients had hereditary movement disorders, 45 (15 WES negative/30 WES positive, DY 66.70%) patients had epilepsy while 29 (15 WES negative/14 WES ...

Conclusion: The most common group of inherited neurological disorders was degenerative brain disorders with WES having high diagnostic yield as it not only ends diagnostic difficulty, helps better

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