|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
|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|
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.