1*PG, Department of Pediatrics, Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India. Email: Sowntharyaa.kathir@gmail.com
2Professor and Head, Karthikeyan Child Development Unit, Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India. Email: udayakumar.n@sriramachandra.edu.in
3Developmental Paediatrician, Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India. Email: priyadharshiniduruvasal@gmail.com
Introduction: Neurodevelopmental disorders (NDDs) includes many group of conditions characterized by developmental deficits that produce impairments of personal, social, academic, or occupational functioning. Establishing a specific genetic etiology is critical for prognosis, genetic counseling, and increasingly, for guiding targeted therapeutics. This case series describes the clinical presentation, diagnostic evaluation, and management of three children presenting to our tertiary care center with overlapping neurodevelopmental concerns.
Case Presentation: We report on three male children, aged 4 to 6 years, presenting with primary complaints of speech delay, hyperactivity, and social communication deficits. Case 1 presented with inadequate speech and mild intellectual disability (Full Scale IQ 67). Although initially suspected for Fragile X Syndrome (FXS), and showed 30% methylation. Subsequent cytogenetic analysis confirmed Klinefelter Syndrome (47, XXY). Cases 2 and 3 presented with significant hyperactivity, attention deficits, and speech delay. Molecular genetic analysis confirmed Fragile X Syndrome in both children, identifying a full mutation in the FMR1 gene with >200 CGG repeats and positive methylation.
Management and Outcomes: The child with Klinefelter syndrome was directed towards academic restructuring and speech therapy. In a novel therapeutic approach, the two children with confirmed Fragile X Syndrome were initiated on Metformin, a targeted treatment aimed at normalizing the dysregulated signaling pathways associated with FMRP deficiency. Preliminary follow-up suggests improvements in behavioral regulation and communication.
Conclusion: This series highlights the necessity of a rigorous etiological workup, including both chromosomal and molecular testing, in children with undifferentiated developmental delays. It further illustrates the emerging pattern of precision medicine in neurodevelopmental disorders, demonstrating the clinical translation of targeted pharmacological interventions for Fragile X Syndrome.
Keywords: Fragile X Syndrome; Klinefelter Syndrome; Neurodevelopmental Disorders; Metformin; Genetic Screening; Intellectual Disability; Precision Medicine.
How to cite this article: Kathiravan SC, Narasimhan U, Duruvasal PD. Pathway To A Targeted Treatment Condition - Fragile X Syndrome And Klinefelter Syndrome In Childhood Presenting With Neuro Developmental Delay. Int J Drug Deliv Technol. 2026;16(15s): 246-250. DOI: 10.25258/ijddt.16.15s.30
Source of support: Nil.
Conflict of interest: None