TY - JOUR AU - Poisson, Alice AU - Nicolas, Alain AU - Cochat, Pierre AU - Sanlaville, Damien AU - Rigard, Caroline AU - de Leersnyder, Hélène AU - Franco, Patricia AU - Portes, Vincent Des AU - Edery, Patrick AU - Demily, Caroline PY - 2015 DA - 2015/09/04 TI - Behavioral disturbance and treatment strategies in Smith-Magenis syndrome JO - Orphanet Journal of Rare Diseases SP - 111 VL - 10 IS - 1 AB - Smith-Magenis syndrome is a complex neurodevelopmental disorder that includes intellectual deficiency, speech delay, behavioral disturbance and typical sleep disorders. Ninety percent of the cases are due to a 17p11.2 deletion encompassing the RAI1 gene; other cases are linked to mutations of the same gene. Behavioral disorders often include outbursts, attention deficit/hyperactivity disorders, self-injury with onychotillomania and polyembolokoilamania (insertion of objects into body orifices), etc. Interestingly, the stronger the speech delay and sleep disorders, the more severe the behavioral issues. Sleep disturbances associate excessive daytime sleepiness with nighttime agitation. They are underpinned by an inversion of the melatonin secretion cycle. However, the combined intake of beta-blockers in the morning and melatonin in the evening may radically alleviate the circadian rhythm problems. SN - 1750-1172 UR - https://doi.org/10.1186/s13023-015-0330-x DO - 10.1186/s13023-015-0330-x ID - Poisson2015 ER -