• English
    • français
  • Help
  •  | 
  • Contact
  •  | 
  • About
  •  | 
  • Login
  • HAL portal
  •  | 
  • Pages Pro
  • EN
  •  / 
  • FR
View Item 
  •   LillOA Home
  • Liste des unités
  • Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364
  • View Item
  •   LillOA Home
  • Liste des unités
  • Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364
  • View Item
JavaScript is disabled for your browser. Some features of this site may not work without it.

Smith-magenis syndrome (sms): clinical and ...
  • BibTeX
  • CSV
  • Excel
  • RIS

Document type :
Article dans une revue scientifique: Article original
DOI :
10.1111/cge.13906
PMID :
33368193
Permalink :
http://hdl.handle.net/20.500.12210/55467
Title :
Smith-magenis syndrome (sms): clinical and behavioral characteristics in a large retrospective cohort
Author(s) :
Rive Le Gouard, Nicolas [Auteur]
Jacquinet, Adeline [Auteur]
Ruaud, Lyse [Auteur]
Deleersnyder, Helene [Auteur]
Ageorge, Faustine [Auteur]
Gallard, Jennifer [Auteur]
Lacombe, Didier [Auteur]
Odent, Sylvie [Auteur]
Mikaty, Myriam [Auteur]
Manouvrier, Sylvie [Auteur] refId
Ghoumid, Jamal [Auteur]
Maladies RAres du DÉveloppement embryonnaire et du Métabolisme : du phénotype au génotype et à la Fonction (RADEME) - ULR 7364
Genevieve, David [Auteur]
Lehman, Natacha [Auteur]
Philip, Nicole [Auteur]
Edery, Patrick [Auteur]
Heron, Delphine [Auteur]
Rastel, Coralie [Auteur]
Chancenotte, Sophie [Auteur]
Thauvin-Robinet, Christel [Auteur]
Faivre, Laurence [Auteur]
Perrin, Laurence [Auteur]
Verloes, Alain [Auteur]
Journal title :
Clinical Genetics
Abbreviated title :
Clin Genet
Publication date :
2020-12-27
ISSN :
1399-0004
Keyword(s) :
obstipation
Smith&#8208
social impact
Magenis
2
clinical characteristics
17p11
neurodevelopmental disorder
HAL domain(s) :
Sciences du Vivant [q-bio]
English abstract : [en]
Smith-Magenis syndrome (SMS), characterized by dysmorphic features, neurodevelopmental disorder, and sleep disturbance, is due to an interstitial deletion of chromosome 17p11.2 (90%) or to point mutations in the RAI1 gene. ...
Show more >
Smith-Magenis syndrome (SMS), characterized by dysmorphic features, neurodevelopmental disorder, and sleep disturbance, is due to an interstitial deletion of chromosome 17p11.2 (90%) or to point mutations in the RAI1 gene. In this retrospective cohort, we studied the clinical, cognitive, and behavioral profile of 47 European patients with SMS caused by a 17p11.2 deletion. We update the clinical and neurobehavioral profile of SMS. Intrauterine growth was normal in most patients. Prenatal anomalies were reported in 15%. 60% of our patients older than 10 years were overweight. Prevalence of heart defects (6.5% tetralogy of Fallot, 6.5% pulmonary stenosis), ophthalmological problems (89%), scoliosis (43%), or deafness (32%) were consistent with previous reports. Epilepsy was uncommon (2%). We identified a high prevalence of obstipation (45%). All patients had learning difficulties and developmental delay, but ID range was wide and 10% of patients had IQ in the normal range. Behavioral problems included temper tantrums and other difficult behaviors (84%) and night-time awakenings (86%). Optimal care of SMS children is multidisciplinary and requires important parental involvement. In our series, half of patients were able to follow adapted schooling, but 70% of parents had to adapt their working time, illustrating the medical, social, educative, and familial impact of having a child with SMS.Show less >
Language :
Anglais
Audience :
Internationale
Popular science :
Non
Administrative institution(s) :
Université de Lille
Collections :
  • Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364
Submission date :
2021-09-02T07:02:41Z
Université de Lille

Mentions légales
Université de Lille © 2017