Williams–Beuren Syndrome
Merlin G. Butler, F. John Meaney in Genetics of Developmental Disabilities, 2019
In 1961, Williams et al. (1) recognized that individuals with supravalvular aortic stenosis (SVAS), unusual facial features, growth retardation and mental “subnormality” constituted a distinct clinical entity. Shortly, thereafter, Beuren et al. (2) independently described this condition expanding the phenotype to include other vascular stenoses, dental anomalies, and a friendly personality. It has now been recognized that this condition, Williams syndrome, or Williams–Beuren syndrome (WBS), is caused by a microdeletion of chromosome 7 surrounding the elastin gene (3), which results in a characteristic developmental disability associated with a distinct faciès and a constellation of medical problems. A clinical diagnosis of WBS can be confirmed by a laboratory test, fluorescent in situ hybridization (FISH), which reveals a submicroscopic deletion on the long arm of chromosome 7.
Genomics and Medicine
Danielle Laraque-Arena, Lauren J. Germain, Virginia Young, Rivers Laraque-Ho in 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).
Tinnitus and Hyperacusis
John C Watkinson, Raymond W Clarke, Christopher P Aldren, Doris-Eva Bamiou, Raymond W Clarke, Richard M Irving, Haytham Kubba, Shakeel R Saeed in Paediatrics, The Ear, Skull Base, 2018
Hyperacusis and tinnitus often present together, and often in combination with hearing loss. This had led to speculation regarding a common underlying aetiology.258,259 Nelson and Chen have suggested that increased perception of sound intensity in the auditory cortex (hyperacusis) together with the perception of phantom sounds (tinnitus) results from a common trigger (hearing loss). A number of conditions have specifically been associated with hyperacusis.258,259 Some of these conditions, such as Bell’s palsy and Ramsay Hunt syndrome, are associated with facial nerve dysfunction. However, since it is likely that in these cases the mechanism is due to an increased perception of sound intensity, secondary to an inefficient or absent stapedial reflex, some have considered that the resulting ‘sound sensitivity’ cannot truly be defined as hyperacusis.260 Williams syndrome is a disorder characterized by deficits in conceptual reasoning, problem solving, motor control, arithmetical ability and special cognition261 and hyperacusis has been reported to feature in 90% of individuals with this syndrome.254 As Williams syndrome is associated with an underlying dysfunction of 5-hydroxytryptamine (5-HT), some have considered that the effects of 5-HT in other conditions, including migraine, depression and post-traumatic stress disorder, may lead to the increased auditory gain that may be responsible for hyperacusis.262 Many other mechanisms have been suggested to underpin the neurophysiology of sound perception, with Jastreboff and Hazell proposing the central auditory system as playing the key role in setting auditory gain and perpetuating the perception of increased loudness.48
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.
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.
Pedestrian navigation and public transit training interventions for youth with disabilities: a systematic review
Published in Disability and Rehabilitation, 2019
Sally Lindsay, De-Lawrence Lamptey
Our review highlights that several types of pedestrian and travel training interventions (e.g., simulations, natural settings, virtual and augmented reality, apps and personal digital assistants, and multi-media) can be used to positively influence outcomes related to navigation and route learning. Specifically, interventions using simulations, natural settings, and virtual or augmented reality had mixed results on improving navigational skills and landmark recognition. Most of the studies that yielded more promising results did not include a comparison group; however, they employed a multiple probe design, an experimental design which allows participants to serve as their own controls in assessing the effectiveness of an intervention [50,51]. Meanwhile, other studies that included a comparison group showed that the outcomes were better for typically developing youth compared with those with disabilities. This is likely because the majority of these studies included youth with cognitive disabilities who have a significantly lower mental age compared with typically developing youth of the same chronological age [52]. It is worth noting that Farran et al. [36] demonstrated that the youth with Williams syndrome aged 22.4 years made equal improvements as typically developing control aged 6–8 years. These findings, therefore, suggest that youth with cognitive disabilities may need additional support to enhance their travel training compared to their typically developing peers.
Related Knowledge Centers
- Chromosome 7
- Heredity
- Hypercalcaemia
- Intellectual Disability
- Personality
- Cardiovascular Disease
- Genetic Disorder
- Supravalvular Aortic Stenosis
- Deletion
- Dominance