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Genomics and Medicine
Published in Danielle Laraque-Arena, Lauren J. Germain, Virginia Young, Rivers Laraque-Ho, Leadership at the Intersection of Gender and Race in Healthcare and Science, 2022
Another interesting perspective gleaned from the ongoing discovery of the molecular basis of many conditions is that it allows us to appreciate that individuals can have deficits due to genetic changes, but they can also have exceptional talents due to genetic variation. As an example, individuals with a condition called Williams syndrome (Wilson & Carter, 2021), who experience mild-to-moderate intellectual disability as well as cardiac and vascular structural anomalies, are also noted to have increased musicality and aptitude for music (WS, 2021). Having an exceptional ability undercuts the notion that all conditions are “bad” and “abnormal” and suggests that we can all gain an appreciation of difference based on genetic variation, rather than a strict hierarchical ranking of outcomes due to genetic variation. As a result, individuals with Williams syndrome have the additional opportunity to undertake music therapy as part of their ongoing treatment plans. Thus, genetic variation can actually open up possibilities and introduce opportunities for improving health. Strengthening an appreciation of variation, diversity, and difference among both patients and providers will serve as a positive result of genomic medicine that can have societal benefits as well as medical benefits (Flanagin et al., 2021).
Genetics
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Jane A. Hurst, Richard H. Scott
Williams syndrome is due to a monoallelic deletion of chromosome 7q11.23 encompassing the elastin ELN gene. This microdeletion is not detectable by G-banded karyotype but identified by specific FISH and array CGH analysis.
Fetal Alcohol Syndrome
Published in Merlin G. Butler, F. John Meaney, Genetics of Developmental Disabilities, 2019
Margaret P. Adam, H. Eugene Hoyme
Fetal alcohol syndrome also shares many features with Williams syndrome. Patients with Williams syndrome can have mild prenatal growth deficiency with microcephaly, short palpebral fissures, long smooth philtrum, and learning and behavioral problems. In contrast to patients with FAS, patients with Williams syndrome also can have periorbital fullness, stellate irises, hallux valgus, hypercalcemia, a distinctive “cocktail party” personality, and congenital heart defects, most commonly supravalvular aortic stenosis and peripheral pulmonary artery stenosis. Williams syndrome is caused by a microdeletion of chromosome 7q11, which can be detected by FISH analysis.
Acceptability and Effectiveness of Humor- and Play-Infused Exposure Therapy for Fears in Williams Syndrome
Published in Evidence-Based Practice in Child and Adolescent Mental Health, 2022
Bonita P. Klein-Tasman, Brianna N. Young, Karen Levine, Kenia Rivera, Elizabeth J. Miecielica, Brianna D. Yund, Sydni E. French
Williams syndrome is a genetic neurodevelopmental disorder resulting from a deletion of about 28 genes on chromosome 7q11.23 (Hillier et al., 2003). Children with Williams syndrome have a characteristic pattern of cognitive strengths and weakness and about 75% of children with Williams syndrome have intellectual disabilities (ID; Mervis & Klein‐Tasman, 2000). A characteristic behavioral profile is also seen, that includes eagerness to interact with others, inattention and impulsivity, as well as high rates of anxiety, especially fears, and phobias (Mervis & Klein‐Tasman, 2000; Leyfer et al., 2006). As is the case for many intellectual and developmental disabilities, while clinicians working with children with Williams syndrome may make use of evidence-based interventions based on research with typically developing individuals, there is very little intervention research with people with Williams syndrome. Further, there is a paucity of research about evidence-based intervention for fears and phobias in children with ID, and no published studies with people with Williams syndrome. Our aims in this research were to examine the acceptability and effectiveness of a play- and humor-infused exposure therapy approach on the strong emotional reactions and fears often exhibited by children with Williams syndrome.
Explicit instruction targeting oral narrative structure is feasible and may improve pragmatic and narrative language during story retelling by children with Williams syndrome1
Published in Evidence-Based Communication Assessment and Intervention, 2021
Emily Fowler, Stephanie Webb, Jessica Price, Serena R. Garza, Russell Lang
Williams syndrome is a neurodevelopmental disorder that influences development and behavior across cognitive, social, and adaptive behavior domains (Bhattacharjee, 2005; Carrasco et al., 2005). Individuals with Williams syndrome tend to have difficulty with tasks that involve visual-spatial reasoning, such as assembling jigsaw puzzles, drawing, and reading a map. Common co-morbidities include ADHD, anxiety and phobias, which can impede intervention efforts and adversely affect quality of life. Although spoken language is generally considered a relative strength in Williams syndrome, Diez-Itza et al.’s (2018) review of literature indicates pragmatic language and narrative storytelling are areas where intervention may be warranted. For example, children with Williams syndrome may (a) be slower to acquire speech; (b) produce fewer word combinations; and (c) experience deficits in grammatical morphology, which may underlie difficulties with narrative generation (Mervis & Becerra, 2007; Priyadarshi & Mahesh, 1970; Rice et al., 2005). Unfortunately, there is little peer-reviewed guidance available in the evidence-base to inform intervention targeting these skills for individuals with Williams syndrome (e.g. Asada et al., 2010; Laing et al., 2002; Tager-Flusberg & Sullivan, 2000). Given the limited existing research on narrative interventions for individuals with developmental disabilities, in general, and the purported absence participants with Williams syndrome in that literature, intervention research in this area is clearly warranted.
An investigation into the relationship between Quality of pantomime gestures and visuospatial skills
Published in Augmentative and Alternative Communication, 2020
Ellen Rombouts, Bea Maes, Inge Zink
Inclusion criteria for participants with Williams syndrome were (a) genetically confirmed diagnosis of Williams syndrome, and (b) chronological age between 8 and 23. Inclusion criteria for the participants with developmental language disorder were (a) a diagnosis of developmental language disorder (in Belgium the diagnosis is called “developmental dysphasia”), and (b) chronological age between 7 and 9;11. This diagnosis entailed that they had a performance IQ score above 85; and that they did not have an acquired neurological disorder, motor disorder, or psychological/psychiatric disorder. In addition, they had a persistent language disorder with little improvement after nine months of intensive language therapy, and they either scored below the 3rd percentile in at least one language subtest or below the 10th percentile in two language subtests. Exclusion criteria were diagnoses of autism or attention deficit disorder. For the participants with typical development there was one additional exclusion criterion: ever having received language therapy. Multilingualism was not an exclusion criterion. Because Williams syndrome is a rare condition, only 15 individuals were eligible for the study, and one individual chose not to participate. For each of the other participant groups, 25 individuals were recruited.