Nationwide questionnaire data of 229 Williams-Beuren syndrome patients using WhatsApp tool
Autor(a) principal: | |
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Data de Publicação: | 2021 |
Outros Autores: | , , , , , , , , |
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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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 |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2021001100950 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2021001100950 |
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 |
dc.format.none.fl_str_mv |
text/html |
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 |
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