Nationwide questionnaire data of 229 Williams-Beuren syndrome patients using WhatsApp tool.

Autor:	Pires LVL; Universidade de São Paulo, Faculdade de Medicina, Hospital das Clínicas, Instituto da Criança, Unidade de Genética, São Paulo SP, Brazil., Ribeiro RL; Universidade Federal de Uberlândia, Faculdade de Engenharia Civil, Uberlândia MG, Brazil., Sousa AM; Universidade de Brasília, Brasília DF, Brazil., Linnenkamp BDW; Universidade de São Paulo, Faculdade de Medicina, Hospital das Clínicas, Instituto da Criança, Unidade de Genética, São Paulo SP, Brazil., Pontes SE; Universidade de São Paulo, Faculdade de Medicina, Hospital das Clínicas, Instituto da Criança, Unidade de Genética, São Paulo SP, Brazil., Teixeira MCTV; Universidade Presbiteriana Mackenzie, Programa de Pós-Graduação em Distúrbios do Desenvolvimento, São Paulo SP, Brazil., Befi-Lopes DM; Universidade de São Paulo, Faculdade de Medicina, Departamento de Fisioterapia Fonoaudiologia e Terapia Ocupacional, São Paulo SP, Brazil., Honjo RS; Universidade de São Paulo, Faculdade de Medicina, Hospital das Clínicas, Instituto da Criança, Unidade de Genética, São Paulo SP, Brazil., Bertola DR; Universidade de São Paulo, Faculdade de Medicina, Hospital das Clínicas, Instituto da Criança, Unidade de Genética, São Paulo SP, Brazil., Kim CA; Universidade de São Paulo, Faculdade de Medicina, Hospital das Clínicas, Instituto da Criança, Unidade de Genética, São Paulo SP, Brazil.
Jazyk:	angličtina
Zdroj:	Arquivos de neuro-psiquiatria [Arq Neuropsiquiatr] 2021 Nov; Vol. 79 (11), pp. 950-956.
DOI:	10.1590/0004-282X-ANP-2020-0450
Abstrakt:	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.
Databáze:	MEDLINE
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