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. 2015 Sep 4:10:111.
doi: 10.1186/s13023-015-0330-x.

Behavioral disturbance and treatment strategies in Smith-Magenis syndrome

Alice Poisson  1   2   3 , Alain Nicolas  4   5 , Pierre Cochat  6   7 , Damien Sanlaville  6   8 , Caroline Rigard  4   9 , Hélène de Leersnyder, Patricia Franco  6   10 , Vincent Des Portes  6   11 , Patrick Edery  6   8   12 , Caroline Demily  4   9   6
Affiliations

Behavioral disturbance and treatment strategies in Smith-Magenis syndrome

Alice Poisson et al. Orphanet J Rare Dis. .

Abstract

Background: 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.

Discussion: 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 and school). In any case, efforts should focus on improving communication skills, identifying and treating attention deficit/hyperactivity, aggressiveness and anxiety. Treatment of Smith-Magenis syndrome is complex and requires a multidisciplinary team including, among others, geneticists, psychiatrists, neuropediatricians/neurologists, somnologists, developmental and behavioral pediatricians, and speech and language therapists.

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Figures

Fig. 1
Fig. 1
Typical SMS phenotype with ‘tented’ upper lip and depressed nasal bridge a, b, c, d, brachydactyly a, b. Young adults SMS often present with synophris (d, e) and prognatism d. Wounds from skin picking can be seen at any age d
Fig. 2
Fig. 2
Proposal of a multimodal management of the behavioral disorders in SMS. Treatment of SMS is complex and includes: geneticists, neuropediatricians/neurologists, somnologists, developmental and behavioral pediatricians, psychiatrists, speech and language therapists, neuropsychologists, psychomotor therapists
See this image and copyright information in PMC

References

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