Journal of Genetic Disorders & Genetic Reports ISSN: 2327-5790

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Smith-Magenis Syndrome Treated with Ramelteon and Amphetamine-dextroamphetamine: Case Report and Review of the Literature

Objective: Smith-Magenis syndrome (SMS) is a monogenetic disorder caused by haploinsufficiency of the retinoic acid-induced 1 (RAI1) gene on 17p11.2. SMS patients are dysmorphic with developmental delay, autism, attention-deficit hyperactivity disorder (ADHD), and insomnia. Treating the insomnia, ADHD, and disruptive behavior are key in managing SMS; however, to date there are no treatment guidelines or FDA-approved medications.

Methods: We present a case of a 7-year-old girl with developmental delay, insomnia, and behavioral problems whom we had diagnosed with SMS, and treated her insomnia and ADHD.

Results: Ramelteon 4 mg at night decreased her CSHQ (Children Sleep Habits Questionnaire) score from 91 to 79, and amphetamine-dextroamphetamine salt 30 mg daily lowered her Vanderbilt ADHD parent rating scale from 70 to 54.

Conclusions: Ramelteon may be effective in treating insomnia in SMS; larger randomized studies would be beneficial in demonstrating the efficacy and safety of these medications in the future.

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