Behavioral disturbance and treatment strategies in Smith-Magenis syndrome

Orphanet Journal of Rare Diseases
A PoissonC Demily

Abstract

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. Once sleep disorders are treated, the next challenge is finding an effective treatment for the remaining behavioral problems. Unfortunately, there is a lack of objective guidelines. A comprehensive evaluation of such disorders should include sleep disorders, potential causes of pain, neurocognitive level and environment (i.e. family an...Continue Reading

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Citations

Sep 13, 2017·Children·Laura Beth Mann DosierZheng Fan
Jul 11, 2018·Journal of Applied Behavior Analysis·Griffin W RookerJennifer R Zarcone
Nov 14, 2018·American Journal on Intellectual and Developmental Disabilities·Jennifer HodnettSarah J Miller
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Jan 28, 2020·Journal of Intellectual Disabilities : JOID·Heidi Elisabeth Nag, Terje Nærland
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Jul 25, 2019·International Journal of Molecular Sciences·Alice PoissonCaroline Demily
Feb 19, 2021·International Journal of Dermatology·Monica ShahChristopher Sayed
Mar 4, 2021·Curēus·Srikrishna V MalayalaDeepa Vasireddy

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