Multidisciplinary management of smith-magenis syndrome in an eight-year-OLD female: a case report
Abstract
Background: Smith-Magenis syndrome (SMS) is a rare neurodevelopmental disorder caused by a microdeletion or mutation of the RAI1 gene on chromosome 17p11.2. It presents with intellectual disability, inverted circadian sleep disturbances, and maladaptive behaviors, including self-injury and sensory dysregulation. Tailored interventions are critical to manage these complex profiles.
Objective: To evaluate the efficacy of combining land-based sensory integration and aquatic therapy on sensory modulation, behavior, and sleep patterns in a pediatric SMS patient.
Methodology: An eight-year-old female with SMS presenting with sensory hyperreactivity, emotional dysregulation, and severe sleep disturbances completed a six-month rehabilitation program integrating land-based sensory integration strategies and aquatic therapy. Pre- and post-intervention outcomes were assessed using the Sensory Profile-2 (SP-2) and the Sleep Disturbance Scale for Children (SDSC).
Results: Post-intervention assessments demonstrated marked clinical improvements. SP-2 analysis showed enhanced sensory modulation, with reduced environmental hyperreactivity and improved tactile, vestibular, and emotional regulation during daily tasks. SDSC scores revealed reduced sleep latency and fewer nighttime awakenings, indicating improved sleep alignment and reduced caregiver burden.
Conclusion: Combining land-based sensory integration and aquatic therapy effectively addresses the complex neurobehavioral and…
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Evidence Hub reads this as a case report, done in people. Its evidence level is 5 of 5 (Very low · case / narrative / animal / in vitro / in silico). Case reports, narrative reviews, and animal, cell or computer-model studies give the weakest evidence for human health.
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