Smith-Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohort.
Abnormalities, Multiple
/ genetics
Adolescent
Child
Child Behavior Disorders
/ genetics
Child, Preschool
Chromosome Deletion
Chromosomes, Human, Pair 17
/ ultrastructure
Developmental Disabilities
/ genetics
Education, Special
Family Relations
Growth Disorders
/ genetics
Humans
Intellectual Disability
/ genetics
Overweight
/ genetics
Parents
Patient Acceptance of Health Care
/ statistics & numerical data
Phenotype
Prenatal Diagnosis
Retrospective Studies
Sleep Wake Disorders
/ genetics
Smith-Magenis Syndrome
/ diagnosis
Young Adult
17p11.2
Smith-Magenis
clinical characteristics
neurodevelopmental disorder
obstipation
social impact
Journal
Clinical genetics
ISSN: 1399-0004
Titre abrégé: Clin Genet
Pays: Denmark
ID NLM: 0253664
Informations de publication
Date de publication:
04 2021
04 2021
Historique:
received:
19
10
2020
revised:
28
11
2020
accepted:
22
12
2020
pubmed:
29
12
2020
medline:
21
1
2022
entrez:
28
12
2020
Statut:
ppublish
Résumé
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.
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
519-528Informations de copyright
© 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
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