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

Detalhes bibliográficos
Autor(a) principal: Pires,Lucas Vieira Lacerda
Data de Publicação: 2021
Outros Autores: Ribeiro,Rogério Lemos, Sousa,Adriana Modesto de, Linnenkamp,Bianca Domit Werner, Pontes,Sue Ellen, Teixeira,Maria Cristina Triguero Veloz, Befi-Lopes,Debora Maria, Honjo,Rachel Sayuri, Bertola,Debora Romeo, Kim,Chong Ae
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Arquivos de neuro-psiquiatria (Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2021001100950
Resumo: 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.
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spelling Nationwide questionnaire data of 229 Williams-Beuren syndrome patients using WhatsApp toolWilliams SyndromeMedical, GeneticsBehaviorMental DisordersPhenotypeABSTRACT 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.Academia Brasileira de Neurologia - ABNEURO2021-11-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2021001100950Arquivos de Neuro-Psiquiatria v.79 n.11 2021reponame:Arquivos de neuro-psiquiatria (Online)instname:Academia Brasileira de Neurologiainstacron:ABNEURO10.1590/0004-282x-anp-2020-0450info:eu-repo/semantics/openAccessPires,Lucas Vieira LacerdaRibeiro,Rogério LemosSousa,Adriana Modesto deLinnenkamp,Bianca Domit WernerPontes,Sue EllenTeixeira,Maria Cristina Triguero VelozBefi-Lopes,Debora MariaHonjo,Rachel SayuriBertola,Debora RomeoKim,Chong Aeeng2021-11-17T00:00:00Zoai:scielo:S0004-282X2021001100950Revistahttp://www.scielo.br/anphttps://old.scielo.br/oai/scielo-oai.php||revista.arquivos@abneuro.org1678-42270004-282Xopendoar:2021-11-17T00:00Arquivos de neuro-psiquiatria (Online) - Academia Brasileira de Neurologiafalse
dc.title.none.fl_str_mv Nationwide questionnaire data of 229 Williams-Beuren syndrome patients using WhatsApp tool
title Nationwide questionnaire data of 229 Williams-Beuren syndrome patients using WhatsApp tool
spellingShingle Nationwide questionnaire data of 229 Williams-Beuren syndrome patients using WhatsApp tool
Pires,Lucas Vieira Lacerda
Williams Syndrome
Medical, Genetics
Behavior
Mental Disorders
Phenotype
title_short Nationwide questionnaire data of 229 Williams-Beuren syndrome patients using WhatsApp tool
title_full Nationwide questionnaire data of 229 Williams-Beuren syndrome patients using WhatsApp tool
title_fullStr Nationwide questionnaire data of 229 Williams-Beuren syndrome patients using WhatsApp tool
title_full_unstemmed Nationwide questionnaire data of 229 Williams-Beuren syndrome patients using WhatsApp tool
title_sort Nationwide questionnaire data of 229 Williams-Beuren syndrome patients using WhatsApp tool
author Pires,Lucas Vieira Lacerda
author_facet Pires,Lucas Vieira Lacerda
Ribeiro,Rogério Lemos
Sousa,Adriana Modesto de
Linnenkamp,Bianca Domit Werner
Pontes,Sue Ellen
Teixeira,Maria Cristina Triguero Veloz
Befi-Lopes,Debora Maria
Honjo,Rachel Sayuri
Bertola,Debora Romeo
Kim,Chong Ae
author_role author
author2 Ribeiro,Rogério Lemos
Sousa,Adriana Modesto de
Linnenkamp,Bianca Domit Werner
Pontes,Sue Ellen
Teixeira,Maria Cristina Triguero Veloz
Befi-Lopes,Debora Maria
Honjo,Rachel Sayuri
Bertola,Debora Romeo
Kim,Chong Ae
author2_role author
author
author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Pires,Lucas Vieira Lacerda
Ribeiro,Rogério Lemos
Sousa,Adriana Modesto de
Linnenkamp,Bianca Domit Werner
Pontes,Sue Ellen
Teixeira,Maria Cristina Triguero Veloz
Befi-Lopes,Debora Maria
Honjo,Rachel Sayuri
Bertola,Debora Romeo
Kim,Chong Ae
dc.subject.por.fl_str_mv Williams Syndrome
Medical, Genetics
Behavior
Mental Disorders
Phenotype
topic Williams Syndrome
Medical, Genetics
Behavior
Mental Disorders
Phenotype
description 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.
publishDate 2021
dc.date.none.fl_str_mv 2021-11-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
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dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2021001100950
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dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/0004-282x-anp-2020-0450
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
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dc.publisher.none.fl_str_mv Academia Brasileira de Neurologia - ABNEURO
publisher.none.fl_str_mv Academia Brasileira de Neurologia - ABNEURO
dc.source.none.fl_str_mv Arquivos de Neuro-Psiquiatria v.79 n.11 2021
reponame:Arquivos de neuro-psiquiatria (Online)
instname:Academia Brasileira de Neurologia
instacron:ABNEURO
instname_str Academia Brasileira de Neurologia
instacron_str ABNEURO
institution ABNEURO
reponame_str Arquivos de neuro-psiquiatria (Online)
collection Arquivos de neuro-psiquiatria (Online)
repository.name.fl_str_mv Arquivos de neuro-psiquiatria (Online) - Academia Brasileira de Neurologia
repository.mail.fl_str_mv ||revista.arquivos@abneuro.org
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