Improving Speech, Language, and Orofacial Outcomes in Russell–Silver Syndrome: A Case Study on Integrated Pediatric Care

Varun Singh; Mansi Doshi; Nandini Tiwari

doi:10.36948/ijfmr.2025.v07i04.52824

Improving Speech, Language, and Orofacial Outcomes in Russell–Silver Syndrome: A Case Study on Integrated Pediatric Care

Author(s)	Mr. Varun Singh, Ms. Mansi Doshi, Ms. Nandini Tiwari
Country	India
Abstract	Background Russell–Silver Syndrome (RSS) is a rare genetic imprinting disorder characterized by intrauterine and postnatal growth restriction, craniofacial dysmorphism, and variable neurodevelopmental outcomes. Communication difficulties, particularly in expressive language, are underreported despite affecting nearly half of the affected individuals. Case Presentation This case report describes a 3-year, 11-month-old female with genetically confirmed RSS due to maternal uniparental disomy of chromosome 7 (mUPD7). The child exhibited global developmental delays, particularly in expressive language and motor skills, along with oromotor anomalies including a high-arched palate and velopharyngeal dysfunction. Standardized assessments revealed a marked receptive–expressive language gap and mild intellectual disability. Intervention A multidisciplinary, personalized therapy program was carried out over 12 months. It included language facilitation strategies, PROMPT and oral placement therapy, augmentative and alternative communication (AAC) supports such as PECS and core vocabulary boards, and parent-mediated social communication training. Therapy sessions were held three times a week for 30 minutes each, with close coordination among the interdisciplinary team. Outcomes Post-intervention assessments demonstrated significant improvements in receptive (from 20–22 to 30–33 months) and expressive language (from 14–16 to 27–30 months). Functional two-word combinations emerged, hypernasality reduced, and joint attention and social engagement improved. Cognitive function remained stable, and parent reports noted enhanced functional communication and reduced frustration behaviors. Conclusion: This case underscores the importance of early genetic diagnosis and tailored, interdisciplinary interventions in treating speech and language delays in RSS. Well-structured, multimodal therapy methods, caregiver participation, and regular outcome monitoring greatly improve communication results in rare neurodevelopmental disorders.
Keywords	Russell–Silver Syndrome, expressive language delay, PROMPT therapy, oromotor intervention, augmentative communication, case report
Field	Medical / Pharmacy
Published In	Volume 7, Issue 4, July-August 2025
Published On	2025-08-03
DOI	https://doi.org/10.36948/ijfmr.2025.v07i04.52824
Short DOI	https://doi.org/g9vzmz

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Improving Speech, Language, and Orofacial Outcomes in Russell–Silver Syndrome: A Case Study on Integrated Pediatric Care

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