Hyperacusis in Williams syndrome

Abstract

Hyperacusis in Williams syndrome (WS) is associated with a high-frequency hearing loss resembling the configuration of noise-induced hearing loss. The hyperacusis and hearing loss in WS may stem from a deficiency in the acoustic reflex resulting from auditory nerve dysfunction. Additional mechanisms that may mediate hyperacusis in WS and should be evaluated in future studies include recruitment, malformation of the facial canal, and haploinsufficiency of the elastin gene.

Cognitive and behavioral profile of Williams Syndrome toddlers

“…The distinctive behavioral and clinical characteristics of toddlers and infants with WS compared to typical children and other individuals with neurodevelopmental disorders associated with intellectual disability (ID) are emotional and behavior problems (EBP), fears, different psychiatric conditions as specific phobias, generalized anxiety disorder, and attention-deficit/hyperactivity disorder (ADHD) (5) , appetitive drive toward social engagement and heightened approachability, excessive social responsiveness, and lack of selectivity in interpersonal contacts, difficulties in emotion processing with decreased recognition of negative social signals, emotional responsivity, including enhanced empathic display and reaction (6) . Previous studies have also demonstrated severe hyperacusis during early childhood that may decrease with age (7) . The behavioral phenotype is characterized by the presence of motor restlessness, impulsiveness, body, gestural and verbal stereotypies, impairment in adaptive functions of daily living, and hyperactivity (8) .…”

Estresse em crianças e adolescentes com Síndrome de Williams-Beuren em idade escolar

“…Estudos sobre fenótipo cognitivo, comportamental, social e de linguagem em pessoas com a síndrome descrevem padrões consistentes de deficiência intelectual em níveis variados, comportamentos elevados de sociabilidade e empatia, bom desempenho em tarefas que demandam uso de linguagem expressiva, prejuízos em habilidades de linguagem receptiva (Rossi, Moretti-Ferreira, & Giacheti, 2007;Tassabehji & Donnai, 2006), hiperacusia, comportamentos estereotipados, agressividade, comorbidades psiquiátricas como fobias específicas, transtorno de ansiedade generalizada, transtorno de déficit de atenção e hiperatividade (Gothelf, Farber, Raveh, Apter, & Attias, 2006;Levitin, Cole, Lincoln, & Bellugi, 2005;Leyfer, Woodruff-Borden, & Mervis, 2009;Meyer-Lindenberg e cols., 2005;Nunes, 2010;Pober, 2010).…”

Williams–Beuren Syndrome

“…The characteristic cognitive and behavioral profile includes some strengths in socialization (overfriendliness and enhanced social interest) and communication (excessive talkativeness and hyperverbal speech) with relatively good short-term verbal memory, contrasting with a common mild to moderate intellectual disability (it is noteworthy that some patients with WBS have been reported to show severe intellectual disability [8]) and severe impairment in visuospatial abilities associated with hyperacusis, peer interaction difficulties, general anxiety and behavioral problems such as hyperactivity [9][10][11][12][13].…”