Nationwide questionnaire data of 229 Williams-Beuren syndrome patients using WhatsApp tool
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 find...
Saved in:
| Main Authors: | , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Thieme Revinter Publicações
2021-11-01
|
| Series: | Arquivos de Neuro-Psiquiatria |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2021001100950&tlng=en |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850227983927738368 |
|---|---|
| author | Lucas Vieira Lacerda Pires Rogério Lemos Ribeiro Adriana Modesto de Sousa Bianca Domit Werner Linnenkamp Sue Ellen Pontes Maria Cristina Triguero Veloz Teixeira Debora Maria Befi-Lopes Rachel Sayuri Honjo Debora Romeo Bertola Chong Ae Kim |
| author_facet | Lucas Vieira Lacerda Pires Rogério Lemos Ribeiro Adriana Modesto de Sousa Bianca Domit Werner Linnenkamp Sue Ellen Pontes Maria Cristina Triguero Veloz Teixeira Debora Maria Befi-Lopes Rachel Sayuri Honjo Debora Romeo Bertola Chong Ae Kim |
| author_sort | Lucas Vieira Lacerda Pires |
| collection | DOAJ |
| 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. |
| format | Article |
| id | doaj-art-fe3e8f58bf504c5eb436ebb8f960833d |
| institution | OA Journals |
| issn | 1678-4227 |
| language | English |
| publishDate | 2021-11-01 |
| publisher | Thieme Revinter Publicações |
| record_format | Article |
| series | Arquivos de Neuro-Psiquiatria |
| spelling | doaj-art-fe3e8f58bf504c5eb436ebb8f960833d2025-08-20T02:04:40ZengThieme Revinter PublicaçõesArquivos de Neuro-Psiquiatria1678-42272021-11-01791195095610.1590/0004-282x-anp-2020-0450Nationwide questionnaire data of 229 Williams-Beuren syndrome patients using WhatsApp toolLucas Vieira Lacerda Pireshttps://orcid.org/0000-0001-8649-976XRogério Lemos Ribeirohttps://orcid.org/0000-0002-6750-8293Adriana Modesto de Sousahttps://orcid.org/0000-0002-4694-7000Bianca Domit Werner Linnenkamphttps://orcid.org/0000-0001-9889-293XSue Ellen Ponteshttps://orcid.org/0000-0003-4867-3987Maria Cristina Triguero Veloz Teixeirahttps://orcid.org/0000-0002-6096-8414Debora Maria Befi-Lopeshttps://orcid.org/0000-0002-8654-832XRachel Sayuri Honjohttps://orcid.org/0000-0002-9223-7341Debora Romeo Bertolahttps://orcid.org/0000-0002-4701-6777Chong Ae Kimhttps://orcid.org/0000-0002-1754-1300ABSTRACT 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.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2021001100950&tlng=enWilliams SyndromeMedical, GeneticsBehaviorMental DisordersPhenotype |
| spellingShingle | Lucas Vieira Lacerda Pires Rogério Lemos Ribeiro Adriana Modesto de Sousa Bianca Domit Werner Linnenkamp Sue Ellen Pontes Maria Cristina Triguero Veloz Teixeira Debora Maria Befi-Lopes Rachel Sayuri Honjo Debora Romeo Bertola Chong Ae Kim Nationwide questionnaire data of 229 Williams-Beuren syndrome patients using WhatsApp tool Arquivos de Neuro-Psiquiatria Williams Syndrome Medical, Genetics Behavior Mental Disorders Phenotype |
| title | 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_short | 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 |
| topic | Williams Syndrome Medical, Genetics Behavior Mental Disorders Phenotype |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2021001100950&tlng=en |
| work_keys_str_mv | AT lucasvieiralacerdapires nationwidequestionnairedataof229williamsbeurensyndromepatientsusingwhatsapptool AT rogeriolemosribeiro nationwidequestionnairedataof229williamsbeurensyndromepatientsusingwhatsapptool AT adrianamodestodesousa nationwidequestionnairedataof229williamsbeurensyndromepatientsusingwhatsapptool AT biancadomitwernerlinnenkamp nationwidequestionnairedataof229williamsbeurensyndromepatientsusingwhatsapptool AT sueellenpontes nationwidequestionnairedataof229williamsbeurensyndromepatientsusingwhatsapptool AT mariacristinatriguerovelozteixeira nationwidequestionnairedataof229williamsbeurensyndromepatientsusingwhatsapptool AT deboramariabefilopes nationwidequestionnairedataof229williamsbeurensyndromepatientsusingwhatsapptool AT rachelsayurihonjo nationwidequestionnairedataof229williamsbeurensyndromepatientsusingwhatsapptool AT deboraromeobertola nationwidequestionnairedataof229williamsbeurensyndromepatientsusingwhatsapptool AT chongaekim nationwidequestionnairedataof229williamsbeurensyndromepatientsusingwhatsapptool |