SATB2-associated syndrome in adolescents and adults.
SATB2
SATB2-associated syndrome
adults with genetic syndrome
glass syndrome
mental health
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
08 2021
08 2021
Historique:
revised:
14
04
2021
received:
10
02
2021
accepted:
22
04
2021
pubmed:
11
5
2021
medline:
13
1
2022
entrez:
10
5
2021
Statut:
ppublish
Résumé
The goal of this study was to investigate the medical, communication, activities of daily living (ADLs), and mental health concerns affecting adolescents and adults with SATB2-associated syndrome (SAS). A comprehensive questionnaire was administered to the caregivers of 49 individuals 12 years or older with SAS (mean age was 19.4 years, range 12-37 years). For all individuals, medical records, including laboratory results, were reviewed. Most individuals required some degree of assistance for ADLs and none of the adults were able to live independently. Health status was qualified as excellent or very good in 61% of individuals. The most common medical problems were dental anomalies, with a significantly higher frequency of hypotonia and gastroesophageal reflux in younger individuals. Medical and surgical interventions were often required. Sixty-nine percent (n = 33) of individuals spoke 10 or fewer words. Autism (41%), anxiety (37%), and attention deficit disorder (37%) were common with one third of individuals receiving medical treatments for these diagnoses. While medical and developmental problems in individuals with SAS were similar to those previously reported, many of these are persistent into adolescence and adulthood. This study provides better guidance for the challenges facing adults with SAS and their families.
Identifiants
pubmed: 33969926
doi: 10.1002/ajmg.a.62258
doi:
Substances chimiques
Matrix Attachment Region Binding Proteins
0
SATB2 protein, human
0
Transcription Factors
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
2391-2398Informations de copyright
© 2021 Wiley Periodicals LLC.
Références
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