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Behavioral disturbance and treatment strategies in Smith-Magenis syndrome.

Poisson A, Nicolas A, Cochat P, Sanlaville D, Rigard C, de Leersnyder H, Franco P, Des Portes V, Edery P, Demily C - Orphanet J Rare Dis (2015)

Bottom Line: Unfortunately, there is a lack of objective guidelines.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.

View Article: PubMed Central - PubMed

Affiliation: 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.

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.

No MeSH data available.


Related in: MedlinePlus

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
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Fig1: 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

Mentions: SMS involves distinctive facial dysmorphia (Fig. 1). Children with SMS often have light-colored hair, bulging forehead, moderate hypoplasia of the middle part of the face and nasal bridge, hypertelorism, oblique outer and upper palpebral fissures, and synophrys. Micrognathia — readily observed during the first years of life — reverses over time, tending towards prognathism characterized by a wide, square-shaped face (Fig. 1). It may be associated with dental anomalies such as tooth agenesis (especially premolar teeth), and/or taurodontism. The child should be tested for ogival palate, short velum, and velopharyngeal insufficiency, especially before a general anesthetic is administered. Other common ear-nose-throat conditions include recurring ear infections, sometimes involving complications such as cholesteatoma, varying degrees of hypoacousia in 60 % of the cases (one third of which lead to perceptive deafness, two thirds to conduction deafness), hoarse voice, and vocal-cord nodes [7, 6–18].Fig. 1


Behavioral disturbance and treatment strategies in Smith-Magenis syndrome.

Poisson A, Nicolas A, Cochat P, Sanlaville D, Rigard C, de Leersnyder H, Franco P, Des Portes V, Edery P, Demily C - Orphanet J Rare Dis (2015)

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
© Copyright Policy - OpenAccess
Related In: Results  -  Collection

License 1 - License 2
Show All Figures
getmorefigures.php?uid=PMC4559928&req=5

Fig1: 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
Mentions: SMS involves distinctive facial dysmorphia (Fig. 1). Children with SMS often have light-colored hair, bulging forehead, moderate hypoplasia of the middle part of the face and nasal bridge, hypertelorism, oblique outer and upper palpebral fissures, and synophrys. Micrognathia — readily observed during the first years of life — reverses over time, tending towards prognathism characterized by a wide, square-shaped face (Fig. 1). It may be associated with dental anomalies such as tooth agenesis (especially premolar teeth), and/or taurodontism. The child should be tested for ogival palate, short velum, and velopharyngeal insufficiency, especially before a general anesthetic is administered. Other common ear-nose-throat conditions include recurring ear infections, sometimes involving complications such as cholesteatoma, varying degrees of hypoacousia in 60 % of the cases (one third of which lead to perceptive deafness, two thirds to conduction deafness), hoarse voice, and vocal-cord nodes [7, 6–18].Fig. 1

Bottom Line: Unfortunately, there is a lack of objective guidelines.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.

View Article: PubMed Central - PubMed

Affiliation: 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.

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.

No MeSH data available.


Related in: MedlinePlus