Friendships in Children with Williams Syndrome: Parent and Child Perspectives
J Autism Dev Disord. 2022 Nov 18. doi: 10.1007/s10803-022-05807-5. Online ahead of print.ABSTRACTAlthough children with Williams syndrome (WS) are strongly socially motivated, many have friendship difficulties. The parents of 21 children with WS and 20 of the children themselves participated in a semi-structured interview about the children's friendships. Parents reported that their child had difficulties sustaining friendships and low levels of interaction with peers. Barriers to friendships included difficulties with play and self-regulating behaviour. However, there was within-group variability, with a small number of c...
Source: Journal of Autism and Developmental Disorders - November 18, 2022 Category: Psychiatry Authors: Amanda E Gillooly Deborah M Riby Kevin Durkin Sin éad M Rhodes Source Type: research
Hyperacusis: Loudness intolerance, fear, annoyance and pain
Hear Res. 2022 Nov 8;426:108648. doi: 10.1016/j.heares.2022.108648. Online ahead of print.ABSTRACTHyperacusis is a debilitating loudness intolerance disorder that can evoke annoyance, fear and aural facial pain. Although the auditory system seems to be the "central" player, hyperacusis is linked to more than twenty non-auditory medical disorders such as Williams syndrome, autism spectrum disorder, fibromyalgia, migraine, head trauma, lupus and acoustic shock syndrome. Neural models suggest that some forms of hyperacusis may result from enhanced central gain, a process by which neural signals from a damaged cochlea are prog...
Source: Hearing Research - November 17, 2022 Category: Audiology Authors: Richard Salvi Guang-Di Chen Senthilvelan Manohar Source Type: research
Hyperacusis: Loudness intolerance, fear, annoyance and pain
Hear Res. 2022 Nov 8;426:108648. doi: 10.1016/j.heares.2022.108648. Online ahead of print.ABSTRACTHyperacusis is a debilitating loudness intolerance disorder that can evoke annoyance, fear and aural facial pain. Although the auditory system seems to be the "central" player, hyperacusis is linked to more than twenty non-auditory medical disorders such as Williams syndrome, autism spectrum disorder, fibromyalgia, migraine, head trauma, lupus and acoustic shock syndrome. Neural models suggest that some forms of hyperacusis may result from enhanced central gain, a process by which neural signals from a damaged cochlea are prog...
Source: Hearing Research - November 17, 2022 Category: Audiology Authors: Richard Salvi Guang-Di Chen Senthilvelan Manohar Source Type: research
Hyperacusis: Loudness intolerance, fear, annoyance and pain
Hear Res. 2022 Nov 8;426:108648. doi: 10.1016/j.heares.2022.108648. Online ahead of print.ABSTRACTHyperacusis is a debilitating loudness intolerance disorder that can evoke annoyance, fear and aural facial pain. Although the auditory system seems to be the "central" player, hyperacusis is linked to more than twenty non-auditory medical disorders such as Williams syndrome, autism spectrum disorder, fibromyalgia, migraine, head trauma, lupus and acoustic shock syndrome. Neural models suggest that some forms of hyperacusis may result from enhanced central gain, a process by which neural signals from a damaged cochlea are prog...
Source: Hearing Research - November 17, 2022 Category: Audiology Authors: Richard Salvi Guang-Di Chen Senthilvelan Manohar Source Type: research
Longitudinal predictors of word reading for children with Williams syndrome
We examined the cognitive, language, and instructional predictors of early word-reading ability in a sample of children with Williams syndrome longitudinally. At Time 1, sixty-nine 6 –7-year-olds (mean age = 6.53 years) completed standardized measures of phonological awareness, visual-spatial perception, vocabulary, and overall intellectual ability. Word-reading instruction type was classified as (systematic) Phonics (n = 35) or Other (n = 34). At Time 2, approximately 3 years later (mean age = 9.47 years), children completed a standardized assessment of single-word reading ability. Reading ability at ...
Source: Reading and Writing - November 15, 2022 Category: Child Development Source Type: research
Pain characteristics in people with Prader-Willi, Williams, and Fragile-X syndromes: an international survey of caregivers ’ perspective
AbstractMany people with intellectual disabilities (ID) depend on caregivers for pain identification and pain management decisions. Therefore, the aim was to explore caregivers ’ experience with pain in Prader-Willi syndrome (PWS), Williams syndrome (WS), and Fragile-X syndrome (FXS). A questionnaire was developed to gather third-party reporting of mainly pain presence, expression, and coping. Questions had single or multiple choice answers and open text fields, without verification of the putative information. The questionnaire was sent digitally to associations and interest groups for the syndromes and healthcare insti...
Source: Journal of Developmental and Physical Disabilities - November 9, 2022 Category: Disability Source Type: research
Comparison of the Social Responsiveness Scale-2 among Individuals with Autism Spectrum Disorder and Williams Syndrome in Japan
This study examined the similarities/differences between the social phenotypes of Williams syndrome (WS) and autism spectrum disorder (ASD). As cultural norms may affect symptom evaluation, this study administered the Social Responsiveness Scale-2 to Japanese individuals with WS (n = 78, 4.4-44.0 years) and ASD (n = 75, 4.7-55.4 years). The scores for Social Motivation and Social Communication were significantly more severe in the ASD than WS group. Overall, the similarities and differences between the social phenotypes of the syndromes were consistent with the findings of a recent study conducted in the UK, except for the...
Source: Journal of Autism and Developmental Disorders - September 28, 2022 Category: Psychiatry Authors: Masahiro Hirai Kosuke Asada Takeo Kato Takahiro Ikeda Yoko Hakuno Ayaka Ikeda Kanae Matsushima Tomonari Awaya Shin Okazaki Toshihiro Kato Yasuko Funabiki Toshiya Murai Toshio Heike Masatoshi Hagiwara Takanori Yamagata Kiyotaka Tomiwa Ryo Kimura Source Type: research
Clinical phenotypes study of 231 children with Williams syndrome in China: A single-center retrospective study
CONCLUSIONS: Facial dysmorphism, neurodevelopmental disorder, hoarseness and cardiovascular anomalies were the most common phenotypes. Genetic testing should be suggested to confirm the diagnosis for children with the above abnormalities. Gender and age should be taken into account when making diagnosis and intervention.PMID:36168091 | DOI:10.1002/mgg3.2069 (Source: Molecular Medicine)
Source: Molecular Medicine - September 28, 2022 Category: Molecular Biology Authors: Fang-Fang Li Wei-Jun Chen Dan Yao Lin Xu Ji-Yang Shen Yan Zeng Zhuo Shi Xiao-Wei Ye Dao-Huan Kang Bin Xu Jie Shao Chai Ji Source Type: research
Comparison of the Social Responsiveness Scale-2 among Individuals with Autism Spectrum Disorder and Williams Syndrome in Japan
This study examined the similarities/differences between the social phenotypes of Williams syndrome (WS) and autism spectrum disorder (ASD). As cultural norms may affect symptom evaluation, this study administered the Social Responsiveness Scale-2 to Japanese individuals with WS (n = 78, 4.4-44.0 years) and ASD (n = 75, 4.7-55.4 years). The scores for Social Motivation and Social Communication were significantly more severe in the ASD than WS group. Overall, the similarities and differences between the social phenotypes of the syndromes were consistent with the findings of a recent study conducted in the UK, except for the...
Source: Journal of Autism and Developmental Disorders - September 28, 2022 Category: Psychiatry Authors: Masahiro Hirai Kosuke Asada Takeo Kato Takahiro Ikeda Yoko Hakuno Ayaka Ikeda Kanae Matsushima Tomonari Awaya Shin Okazaki Toshihiro Kato Yasuko Funabiki Toshiya Murai Toshio Heike Masatoshi Hagiwara Takanori Yamagata Kiyotaka Tomiwa Ryo Kimura Source Type: research
Clinical phenotypes study of 231 children with Williams syndrome in China: A single ‐center retrospective study
ConclusionsFacial dysmorphism, neurodevelopmental disorder, hoarseness and cardiovascular anomalies were the most common phenotypes. Genetic testing should be suggested to confirm the diagnosis for children with the above abnormalities. Gender and age should be taken into account when making diagnosis and intervention. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 28, 2022 Category: Genetics & Stem Cells Authors: Fang ‐fang Li,
Wei‐jun Chen,
Dan Yao,
Lin Xu,
Ji‐yang Shen,
Yan Zeng,
Zhuo Shi,
Xiao‐wei Ye,
Dao‐huan Kang,
Bin Xu,
Jie Shao,
Chai Ji Tags: ORIGINAL ARTICLE Source Type: research
Importance of Formula-Specific Centile Thresholds for Evaluation of Heart Rate-Corrected QT Prolongation in Williams Syndrome
Patients with Williams syndrome (WS) have a 25- to 100-fold higher risk of sudden death and prolonged heart rate-corrected QT (QTc). A recent study using the Fridericia formula for QT correction suggested that prolongation is principally an issue of heart rate. We used multiple published heart rate correction formulas to reevaluate the prevalence of QTc prolongation in our original dataset from our 2010 study at the Children's Hospital of Philadelphia. The ninety-eighth centile for QTc and corrected JT Interval (JTc) of the control population for each formula were used to set the threshold for prolongation. (Source: The Am...
Source: The American Journal of Cardiology - September 13, 2022 Category: Cardiology Authors: Claudia A. Algaze, Anna M. Deitch, Henry Chubb, Peter F. Aziz, R. Thomas Collins Source Type: research
An unusual presentation of transverse colon volvulus in a patient with Williams Syndrome: Case report and literature review
CONCLUSION: Patients with Williams Syndrome can develop rare gastrointestinal complications like transverse colon volvulus due to congenital/physiological predisposing factors. It is a surgical emergency and should be diagnosed and managed optimally. In addition, physicians should keep TCV in differential diagnoses while dealing with patients of Williams Syndrome presenting with acute or subacute abdominal pain.PMID:36045844 | PMC:PMC9422352 | DOI:10.1016/j.amsu.2022.104310 (Source: Annals of Medicine)
Source: Annals of Medicine - September 1, 2022 Category: Internal Medicine Authors: Shifa Younus Zainab Sadiq Muhammad Ali Momin Hamza Maqsood Source Type: research
Gesture-speech integration is related to vocabulary skills in children with developmental language disorder, Williams syndrome and typical development
CONCLUSIONS & IMPLICATIONS: Regardless of neurodevelopmental condition or typical development, a higher use of supplementary gestures was influenced by expressive vocabulary skills. Children with lower vocabulary skills spontaneously capitalized on the multimodality of communication to express constituents that were not present in their verbal speech. This finding is a promising starting point for future gesture intervention studies examining whether implicit modelling of gesture use can encourage gestures even more in these children and if this allows them to achieve higher linguistic complexity. On a methodological note,...
Source: International Journal of Language and Communication Disorders - August 29, 2022 Category: Speech-Language Pathology Authors: Ellen Rombouts Liesl Leenen Bea Maes Inge Zink Source Type: research
Gesture-speech integration is related to vocabulary skills in children with developmental language disorder, Williams syndrome and typical development
CONCLUSIONS & IMPLICATIONS: Regardless of neurodevelopmental condition or typical development, a higher use of supplementary gestures was influenced by expressive vocabulary skills. Children with lower vocabulary skills spontaneously capitalized on the multimodality of communication to express constituents that were not present in their verbal speech. This finding is a promising starting point for future gesture intervention studies examining whether implicit modelling of gesture use can encourage gestures even more in these children and if this allows them to achieve higher linguistic complexity. On a methodological note,...
Source: International Journal of Language and Communication Disorders - August 29, 2022 Category: Speech-Language Pathology Authors: Ellen Rombouts Liesl Leenen Bea Maes Inge Zink Source Type: research
