Nationwide questionnaire data of 229 Williams-Beuren syndrome patients using WhatsApp tool Resultados de um questionário nacional de 229 pacientes com síndrome de Williams-Beuren obtidos por WhatsApp

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dc.contributor.authorPires L.V.L.
dc.contributor.authorRibeiro R.L.
dc.contributor.authorDe Sousa A.M.
dc.contributor.authorLinnenkamp B.D.W.
dc.contributor.authorPontes S.E.
dc.contributor.authorTeixeira M.C.T.V.
dc.contributor.authorBefi-Lopes D.M.
dc.contributor.authorHonjo R.S.
dc.contributor.authorBertola D.R.
dc.contributor.authorKim C.A.
dc.date.accessioned2024-03-12T19:18:40Z
dc.date.available2024-03-12T19:18:40Z
dc.date.issued2021
dc.description.abstract© 2021 Associacao Arquivos de Neuro-Psiquiatria. All rights reserved.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.
dc.description.firstpage951
dc.description.issuenumber11
dc.description.lastpage956
dc.description.volume79
dc.identifier.doi10.1590/0004-282X-ANP-2020-0450
dc.identifier.issn1678-4227
dc.identifier.urihttps://dspace.mackenzie.br/handle/10899/34562
dc.relation.ispartofArquivos de Neuro-Psiquiatria
dc.rightsAcesso Aberto
dc.subject.otherlanguageBehavior
dc.subject.otherlanguageGenetics
dc.subject.otherlanguageMedical
dc.subject.otherlanguageMental Disorders
dc.subject.otherlanguagePhenotype
dc.subject.otherlanguageWilliams Syndrome
dc.titleNationwide questionnaire data of 229 Williams-Beuren syndrome patients using WhatsApp tool Resultados de um questionário nacional de 229 pacientes com síndrome de Williams-Beuren obtidos por WhatsApp
dc.typeArtigo
local.scopus.citations1
local.scopus.eid2-s2.0-85120690928
local.scopus.subjectAortic Stenosis, Supravalvular
local.scopus.subjectBrazil
local.scopus.subjectChild, Preschool
local.scopus.subjectHumans
local.scopus.subjectSurveys and Questionnaires
local.scopus.subjectWilliams Syndrome
local.scopus.updated2024-12-01
local.scopus.urlhttps://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85120690928&origin=inward
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