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 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.

The neurophysiological approach to misophonia: Theory and treatment

“…Various terms have been used to describe this condition, such as hyperacusis (Vernon and Press, 1998 ), recruitment, and decreased sound tolerance (DST), with hyperacusis being used most frequently (Baguley and McFerran, 2010 ; Jastreboff and Jastreboff, 2014b ; Henry et al, 2022 ). This phenomenon may be related to various medical problems (e.g., migraine, autism, and Williams syndrome) (Van Borsel et al, 1997 ; Anari et al, 1999 ; Jastreboff and Jastreboff, 2001b , 2002 , 2014b , 2018 ; Jastreboff and Hazell, 2004 ; Levitin et al, 2005 ; Formby, 2007 ; Formby et al, 2007 ; Hawley et al, 2007 ; Sheldrake et al, 2015 ; Pires et al, 2021 ), or it may affect a person without any identifiable etiology.…”