Nationwide questionnaire data of 229 Williams-Beuren syndrome patients using WhatsApp tool
| Autor: | Chong Ae Kim, Rachel Sayuri Honjo, Adriana Modesto de Sousa, Sue Ellen Pontes, Debora Maria Befi-Lopes, Lucas Vieira Lacerda Pires, Rogério Lemos Ribeiro, Bianca Domit Werner Linnenkamp, Débora Romeo Bertola, Maria Cristina Triguero Veloz Teixeira |
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| Rok vydání: | 2020 |
| Předmět: |
Williams Syndrome
Pediatrics medicine.medical_specialty Comportamento Transtornos Mentais Fenótipo Neurosciences. Biological psychiatry. Neuropsychiatry Síndrome de Williams Surveys and Questionnaires medicine Humans Family history Depression (differential diagnoses) Behavior business.industry Mental Disorders Hyperacusis medicine.disease Aortic Stenosis Supravalvular Otitis Phenotype Neurology Genética Médica Child Preschool Failure to thrive Anxiety Neurology (clinical) Williams syndrome medicine.symptom business Supravalvular aortic stenosis Medical Genetics Brazil RC321-571 |
| Zdroj: | Arquivos de Neuro-Psiquiatria, Vol 79, Iss 11, Pp 950-956 (2021) Arquivos de Neuro-Psiquiatria v.79 n.11 2021 Arquivos de neuro-psiquiatria Academia Brasileira de Neurologia instacron:ABNEURO Arquivos de Neuro-Psiquiatria, Volume: 79, Issue: 11, Pages: 950-956, Published: 22 NOV 2021 |
| ISSN: | 1678-4227 |
| Popis: | 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. RESUMO Antecedentes: A síndrome de Williams-Beauren é doença de acometimento multisistêmico causado pela microdeleção da região 7q11.23. Apesar de haver casos familiares com herança autossômica dominante, a grande maioria dos casos é esporádica. Objetivo: Investigar as principais queixas e achados clínicos da síndrome. Métodos: 757 pais de pacientes inscritos na Associação Brasileira de Síndrome de Williams-Beuren (ABSW) receberam um questionário pelo WhatsApp, entre março e julho de 2017. Resultados: 229 pais de pacientes responderam à pesquisa. A idade de diagnóstico variou de 2 dias até 34 anos (mediana: 3 anos). Os principais achados reportados pelos pais: cólicas abdominais (83,3%), deficiência ponderoestatural (71,5%), dificuldade de alimentação no primeiro ano (68,9%), otite (56,6%), infecções do trato urinário (31,9%), puberdade precoce (27,1%) e escoliose (15,9%). Cardiopatias estavam presentes em 66%, sendo que a mais frequente era a estenose pulmonar supravalvar (36%). Hipertensão arterial foi reportada em 23%. Hipercalcemia foi reportada em 10,5%, principalmente no primeiro ano de vida. Hiperacusia e hiperssociabilidade foram achados comuns (89%). Os principais achados comportamentais e psiquiátricos reportados pelos pais foram: déficit de atenção (89%), crises de raiva (83%), medo excessivo (66%), depressão (64%), ansiedade (67%) e hiperssexualidade (33%). As queixas principais referidas foram hipersensibilidade a sons, personalidade excessivamente amigável, dependência emocional e dificuldades escolares. Em 98,3% dos casos os pais negaram história familial. Conclusões: A síndrome de Williams-Beuren é requer um seguimento e manejo estritos, com diferentes especialidades médicas devido às comorbidades clínicas variadas, que incluem dificuldades de linguagem e aprendizagem escolar, além de dificuldades comportamentais e psiquiátricas. |
| Databáze: | OpenAIRE |
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