Smith-Magenis syndrome (SMS) is a severe neurodevelopmental disorder characterized by intellectual disability, sleep abnormalities, behavioral dyscontrol, and a distinct somatic phenotype. This report describes the case of a 10-year-old female with SMS who presented with aggression, self-injurious behavior, impulsivity, and attention deficits. She had failed trials of several stimulants and clonidine prior to presentation. An evening-dosed, delayed-release/extended-release methylphenidate formulation was added to her regimen, and she demonstrated significant improvement in her presenting symptoms. To our knowledge, this is the first published case of the use of an evening-dosed, delayed-release/extended-release methylphenidate formulation in a patient with SMS. This case highlights the need for further research on the role of these medications in managing behavioral and attentional symptoms associated with SMS.
impulsivity, methylphenidate, melatonin agonist, behavioral dyscontrol, jornay, inverted circadian rhythm, SMS, 17p11.2 deletion, microdeletion, Smith-Magenis Syndrome
Narlesky M, McDonald D, Bradford B, Sukpraprut-Braaten S, Strayhan R. Management of Attention Deficits and Behavioral Dyscontrol With an Evening-Dosed Methylphenidate Formulation in Smith-Magenis Syndrome. Cureus. 2022; 14(1). doi: 10.7759/cureus.21255.