Genetic Variants Linked to Dyslexia Co-Morbid ADHD: A Case Study of a Pakistani Outpatient.

Abstract

Developmental Dyslexia (DD) and Attention-deficit/hyperactivity disorder (ADHD) are neurodevelopmental disorders that often coexist and share complex genetic underpinnings. Our case study integrates psychological assessments and whole exome sequencing to explore the genetic basis of DD and ADHD co-occurrence in a single proband (a nine-year-old female born to healthy) from a consanguineous Pakistani family. We present a proband with symptoms of impulsivity, inattention, and severe hyperactive behavior, along with speech impairment and moderate learning disabilities. The study identified non-synonymous variations in genes associated with both disorders, such as COMT, ADRA1A, and HTR2A, DNAAF4, DCDC2, KIAA0319, LRRC56, and PHRF1. Network analysis revealed key pathways like S100 Family Signaling, G-Protein Coupled Receptor Signaling, and Dopamine Receptor Signaling shedding light on potential mechanisms underlying the observed phenotypes. The study emphasizes the complexity of these conditions and underscores the need for personalized interventions to address diagnosis challenges.