Behavioral disturbance and treatment strategies in Smith-Magenis syndrome.
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.


CONCLUSIONS
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.
Center for Screening and Treatment of Psychiatric Disorders of Genetic Origin, Vinatier Hospital, 95 Bd Pinel, 69678, Lyon, France. alice.poisson@ch-le-vinatier.fr.|Cognitive Neuroscience Center, UMR 5229, French National Research Center (CNRS), Bron, France. alice.poisson@ch-le-vinatier.fr.|Lyon 1 University, Lyon, France. alice.poisson@ch-le-vinatier.fr.
Alice
A
Poisson
Center for Screening and Treatment of Psychiatric Disorders of Genetic Origin, Vinatier Hospital, 95 Bd Pinel, 69678, Lyon, France.|Michel Jouvet Unite (sleep Medicine), Vinatier Hospital, Human chronobiology team INSERM 846, Bron, France.
Alain
A
Nicolas
Lyon 1 University, Lyon, France.|Pediatric Nephrology and Rhumatology Ward, Reference Center for Rare Kidney Diseases, Civil Hospices of Lyon, INSERM U820, Bron, France.
Pierre
P
Cochat
Lyon 1 University, Lyon, France.|Department of Genetics, Reference Center for Developmental Anomalies and Malformation Syndromes, Civil Hospices of Lyon, Bron, France.
Damien
D
Sanlaville
Center for Screening and Treatment of Psychiatric Disorders of Genetic Origin, Vinatier Hospital, 95 Bd Pinel, 69678, Lyon, France.|Cognitive Neuroscience Center, UMR 5229, French National Research Center (CNRS), Bron, France.
Caroline
C
Rigard
Hélène
H
de Leersnyder
Lyon 1 University, Lyon, France.|Hypnology Unit, Neuropediatric Ward, Civil Hospices of Lyon and INSERM U628, Lyon, France.
Patricia
P
Franco
Lyon 1 University, Lyon, France.|Pediatric Neurology Ward, Reference Center "Intellectual Deficiencies with Rare Causes", Civil Hospices of Lyon, Bron, France. CNRS UMR 5304, L2C2, Institute of Cognitive Sciences, 69675, Bron, France.
Vincent
V
Des Portes
Lyon 1 University, Lyon, France.|Department of Genetics, Reference Center for Developmental Anomalies and Malformation Syndromes, Civil Hospices of Lyon, Bron, France.|Neuroscience Research Center of Lyon, Inserm U1028, CNRS UMR 5292, UCBL, TIGER Team, Bron, France.
Patrick
P
Edery
Center for Screening and Treatment of Psychiatric Disorders of Genetic Origin, Vinatier Hospital, 95 Bd Pinel, 69678, Lyon, France.|Cognitive Neuroscience Center, UMR 5229, French National Research Center (CNRS), Bron, France.|Lyon 1 University, Lyon, France.
Caroline
C
Demily
D000328:Adult; D006801:Humans; D001523:Mental Disorders; D010146:Pain; D012893:Sleep Wake Disorders; D058496:Smith-Magenis Syndrome / Q000188:drug therapy* / Q000523:psychology*