International Publisher of Science, Technology and Medicine

Journal of Genetic Disorders & Genetic Reports

Case Report

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

Baek WS1* and Elsea SH2
1Parkside Medical Group, 1310 San Bernardino Rd, Suite 102, Upland, CA 91786, USA
2Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015, Houston, TX 77030, USA
Corresponding author : Dr. Baek WS
MD,Parkside Medical Group, 1310 San Bernardino Rd, Suite 102, Upland, CA 91786, USA
Tel: 909 608 2008
Fax:
909 608 7705
E-mail:
William_S_Baek@hotmail.com
Received: October 18, 2016 Accepted: November 02, 2016 Published: November 09, 2016
Citation: Baek WS, Elsea SH (2016) Smith-Magenis Syndrome Treated with Ramelteon and Amphetamine-dextroamphetamine: Case Report and Review of the Literature. J Genet Disor Genet Rep 5:4. doi: 10.4172/2327-5790.1000145

Abstract

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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