Nationwide questionnaire data of 229 Williams-Beuren syndrome patients using WhatsApp tool.
Arq Neuropsiquiatr
; 79(11): 950-956, 2021 11.
Article
em En
| MEDLINE
| ID: mdl-34816986
ABSTRACT
BACKGROUND:
Williams-Beuren syndrome is a multisystemic disorder caused by a microdeletion of the 7q11.23 region. Although familial cases with autosomal dominant inheritance have been reported, the vast majority are sporadic.OBJECTIVE:
To investigate the main complaints and clinical findings of patients with Williams-Beuren syndrome.METHODS:
A total of 757 parents of patients registered in the Brazilian Association of Williams-Beuren Syndrome (ABSW) received a questionnaire via WhatsApp from March to July 2017.RESULTS:
In total, 229 parents answered the survey. Age of diagnosis ranged from 2 days to 34 years (median 3 years). The main clinical findings reported by the parents were abdominal colic (83.3%), failure to thrive (71.5%), feeding difficulty in the first year (68.9%), otitis (56.6%), urinary tract infections (31.9%), precocious puberty (27.1%) and scoliosis (15.9%). Cardiac defects were present in 66% of patients, and the most frequent defect was supravalvular aortic stenosis (36%). Arterial hypertension was reported in 23%. Hypercalcemia was reported in 10.5% of patients, mainly during the first year of life. Hyperacusis and hypersociability were common complaints (both present in 89%). Other behavioral and neuropsychiatric symptoms reported by the parents included attention deficit (89%), anger crises (83%), excessive fear (66%), depression (64%), anxiety (67%) and hypersexuality (33%). The most common complaints were hypersensitivity to sounds, talkative personality, emotional dependence and learning difficulties. In 98.3%, the parents denied family history.CONCLUSIONS:
Williams-Beuren syndrome requires close follow-up with different medical specialties due to their variable clinical comorbidities, including language and school learning difficulties, behavioral and psychiatric problems.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Williams
/
Estenose Aórtica Supravalvular
Limite:
Child, preschool
/
Humans
País/Região como assunto:
America do sul
/
Brasil
Idioma:
En
Revista:
Arq Neuropsiquiatr
Ano de publicação:
2021
Tipo de documento:
Article
País de afiliação:
Brasil