Systematic Review: Emotion Dysregulation in Syndromic Causes of Intellectual and Developmental Disabilities
To summarize the current state of the literature regarding emotion dysregulation (ED) in syndromic causes of intellectual disability (S-IDs) in six of the most common forms of S-IDs: Down syndrome (DS), Fragile X syndrome (FXS), tuberous-sclerosis complex (TSC), Williams syndrome (WS), Prader-Willi syndrome (PWS), and Angelman syndrome (AS); and to determine future research directions for identification and treatment of ED. (Source: Journal of the American Academy of Child and Adolescent Psychiatry)
Source: Journal of the American Academy of Child and Adolescent Psychiatry - August 21, 2022 Category: Psychiatry Authors: Rebecca C. Shaffer, Debra L. Reisinger, Lauren M. Schmitt, Martine Lamy, Kelli C. Dominick, Elizabeth G. Smith, Marika C. Coffman, Anna J. Esbensen Tags: Review Source Type: research
Surgical repair of peripheral pulmonary artery stenosis: A two-decade experience with 145 patients
Peripheral pulmonary artery stenosis (PPAS) is a relatively rare form of congenital heart disease often associated with Williams syndrome, Alagille syndrome, and elastin arteriopathy. This disease is characterized by stenoses at nearly all lobar and segmental ostia and results in systemic level right ventricular pressures. The current study summarizes our experience with the surgical treatment of PPAS. (Source: The Journal of Thoracic and Cardiovascular Surgery)
Source: The Journal of Thoracic and Cardiovascular Surgery - August 10, 2022 Category: Cardiovascular & Thoracic Surgery Authors: L. Mac Felmly, Richard D. Mainwaring, R. Thomas Collins, Kirstie Lechich, Elisabeth Martin, Michael Ma, Frank L. Hanley Source Type: research
Surgical repair of peripheral pulmonary artery stenosis: A 2-decade experience with 145 patients
Peripheral pulmonary artery stenosis (PPAS) is a relatively rare form of congenital heart disease often associated with Williams syndrome, Alagille syndrome, and elastin arteriopathy. This disease is characterized by stenoses at nearly all lobar and segmental ostia and results in systemic-level right ventricular pressures. The current study summarizes our experience with the surgical treatment of PPAS. (Source: The Journal of Thoracic and Cardiovascular Surgery)
Source: The Journal of Thoracic and Cardiovascular Surgery - August 10, 2022 Category: Cardiovascular & Thoracic Surgery Authors: L. Mac Felmly, Richard D. Mainwaring, R. Thomas Collins, Kirstie Lechich, Elisabeth Martin, Michael Ma, Frank L. Hanley Tags: Congenital Source Type: research
Dissociation of early and late face-related processes in autism spectrum disorder and Williams syndrome
Williams syndrome (WS) and Autism Spectrum Disorders (ASD) are neurodevelopmental conditions associated with atypical but opposite face-to-face interactions patterns: WS patients overly stare at others, ASD in... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - June 22, 2022 Category: Internal Medicine Authors: Alice Gomez, Guillaume Lio, Manuela Costa, Angela Sirigu and Caroline Demily Tags: Research Source Type: research
Moyamoya syndrome in a patient with Williams Syndrome: a case report
Conclusion: This was the first report on a case in which moyamoya syndrome associated with Williams syndrome was confirmed by the presence of a heterozygous RNF213 mutation. Similar to the workup of moyamoya disease, confirmation of RNF213 mutation in Williams syndrome may be useful in predicting the development of moyamoya syndrome that can lead to severe complications. (Source: Pediatric Neurosurgery)
Source: Pediatric Neurosurgery - May 31, 2022 Category: Neurosurgery Source Type: research
Psychotic Symptoms and Malignant Neuroleptic Syndrome in Williams Syndrome: A Case Report
ConclusionsWe present a case of the coincidence of Williams syndrome and psychosis. We hypothesize on the possible pathological relationships between the onset of the psychosis and severe anxiety in an individual with Williams syndrome. This case report duly contributes to the limited literature on psychiatric comorbidity in Williams syndrome. (Source: Frontiers in Psychiatry)
Source: Frontiers in Psychiatry - May 31, 2022 Category: Psychiatry Source Type: research
Genes, Vol. 13, Pages 987: Fish as Model Systems to Study Epigenetic Drivers in Human Self-Domestication and Neurodevelopmental Cognitive Disorders
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Modern humans exhibit phenotypic traits and molecular events shared with other domesticates that are thought to be by-products of selection for reduced aggression. This is the human self-domestication hypothesis. As one of the first types of responses to a novel environment, epigenetic changes may have also facilitated early self-domestication in humans. Here, we argue that fish species, which have been recently domesticated, can provide model systems to study epigenetic drivers in human self-domestication. To test this, we used in silico approaches to compare genes with epigenetic changes in early domesticates ...
Source: Genes - May 31, 2022 Category: Genetics & Stem Cells Authors: Dafni Anastasiadi Francesc Piferrer Maren Wellenreuther Antonio Ben ítez Burraco Tags: Article Source Type: research
A Distance-Delivered Social Skills Program for Young Adults with Williams Syndrome: Evaluating Feasibility and Preliminary Efficacy
J Autism Dev Disord. 2022 May 16. doi: 10.1007/s10803-022-05501-6. Online ahead of print.ABSTRACTAdults with Williams syndrome (WS) display hypersocial behaviors and experience social skills deficits. To improve social outcomes, we evaluated the feasibility, acceptability, and preliminary efficacy of an 8-week distance-delivered social skills program for adults with WS. Sessions were offered twice a week for 90 min. Twenty-four adults with WS were assigned to an intervention or waitlist control group. Outcomes were assessed through interviews and surveys with adults with WS, parents, and facilitators. The intervention was ...
Source: Journal of Autism and Developmental Disorders - May 16, 2022 Category: Psychiatry Authors: Marisa H Fisher Rebecca R Kammes Rhonda S Black Kristin Houck Katie Cwiakala Source Type: research
P443. Longitudinal Trajectories of Myelin Development in Children With Williams Syndrome
Williams syndrome (WS), a neurodevelopmental disorder caused by hemideletion of ∼25 genes in chromosomal region 7q11.23, is associated with increased social drive and reduced visuospatial construction abilities. Previous neuroimaging studies in adults and children with WS have identified alterations in cortical and DTI-based white matter properties in brain regions associated with these behavioral and cognitive characteristics, and recent research has indicated that myelination may also be altered in WS. (Source: Biological Psychiatry)
Source: Biological Psychiatry - April 28, 2022 Category: Psychiatry Authors: Jonathan Kippenhan, Michael Gregory, Tiffany Nash, Shau-Ming Wei, Katherine (Reding) Cole, Madeline Hamborg, Andrea E. Gouvea, Stuti Bansal, Zachary Trevorrow, Oriana Myers, Daniel Eisenberg, Carolyn B. Mervis, Karen Berman Source Type: research
P442. Functional and Structural Connectivity Alterations Associated With 7q11.23 Copy Number Variations
Williams syndrome (WS) and 7q11.23 duplication syndrome (Dup7) are caused by hemideletion or duplication, respectively, of ∼25 genes on chromosomal locus 7q11.23. Previous research has shown altered functional connectivity and white-matter microstructure in WS. After searching across the brain for regions with altered functional connectivity related to 7q11.23 copy number variation (CNV), we tested for alterations in white-matter tracts connecting these regions as a function of gene dosage. (Source: Biological Psychiatry)
Source: Biological Psychiatry - April 28, 2022 Category: Psychiatry Authors: Zachary Trevorrow, J. Shane Kippenhan, Michael Gregory, Tiffany Nash, Andrea E. Gouvea, Danya Adams, Olivia R. Kline, Daniel Eisenberg, Philip Kohn, Dwight Dickinson, Carolyn B. Mervis, Karen F. Berman Source Type: research
Williams syndrome: reduced orienting to other's eyes in a hypersocial phenotype
J Autism Dev Disord. 2022 Apr 20:1-12. doi: 10.1007/s10803-022-05563-6. Online ahead of print.ABSTRACTWilliams syndrome (WS) is a rare genetic condition associated with high sociability, intellectual disability, and social cognitive challenges. Attention to others' eyes is crucial for social understanding. Orienting to, and from other's eyes was studied in WS (n = 37, mean age = 23, age range 9-53). The WS group was compared to a typically developing comparison participants (n = 167) in stratified age groups from infancy to adulthood. Typically developing children and adults were quicker and more likely to orient to eyes t...
Source: Journal of Autism and Developmental Disorders - April 21, 2022 Category: Psychiatry Authors: Johan Lundin Kleberg Deborah Riby Christine Fawcett Hanna Bj örlin Avdic Matilda A Frick Karin C Brocki Jens H ögström Eva Serlachius Ann Nordgren Charlotte Willfors Source Type: research
Williams syndrome: reduced orienting to other's eyes in a hypersocial phenotype
J Autism Dev Disord. 2022 Apr 20:1-12. doi: 10.1007/s10803-022-05563-6. Online ahead of print.ABSTRACTWilliams syndrome (WS) is a rare genetic condition associated with high sociability, intellectual disability, and social cognitive challenges. Attention to others' eyes is crucial for social understanding. Orienting to, and from other's eyes was studied in WS (n = 37, mean age = 23, age range 9-53). The WS group was compared to a typically developing comparison participants (n = 167) in stratified age groups from infancy to adulthood. Typically developing children and adults were quicker and more likely to orient to eyes t...
Source: Journal of Autism and Developmental Disorders - April 21, 2022 Category: Psychiatry Authors: Johan Lundin Kleberg Deborah Riby Christine Fawcett Hanna Bj örlin Avdic Matilda A Frick Karin C Brocki Jens H ögström Eva Serlachius Ann Nordgren Charlotte Willfors Source Type: research
Neural Networks for Classification and Image Generation of Aging in Genetic Syndromes
Conclusion: The ability of clinical geneticists to diagnose these conditions is influenced by the age of the patient. Deep learning technologies such as our classifier can more accurately identify patients across the lifespan based on facial features. Saliency maps of computer vision reveal that the syndromic facial feature attributes change with the age of the patient. Modest improvements in the classifier accuracy were observed when joint training was carried out with both real and fake images. Our findings highlight the need for a greater focus on age as a confounder in facial diagnosis. (Source: Frontiers in Genetics)
Source: Frontiers in Genetics - April 11, 2022 Category: Genetics & Stem Cells Source Type: research
Frequency of QTc Interval Prolongation in Children and Adults with Williams Syndrome
AbstractQTc prolongation ( ≥ 460 ms), according to Bazett formula (QTcB), has been identified to be increased in Williams syndrome (WS) and suggested as a potential cause of increased risk of sudden cardiac death. The Bazett formula tends to overestimate QTc in higher heart rates. We performed a retrospective chart revie w of WS patients with ≥ 1 electrocardiogram (EKG) with sinus rhythm, no evidence of bundle branch blocks, and measurable intervals. A total of 280 EKGs from 147 patients with WS were analyzed and 123 EKGs from 123 controls. The QTc was calculated using Bazett formula. The average QTcB for indi v...
Source: Mammalian Genome - April 2, 2022 Category: Genetics & Stem Cells Source Type: research
Frequency of QTc Interval Prolongation in Children and Adults with Williams Syndrome
AbstractQTc prolongation ( ≥ 460 ms), according to Bazett formula (QTcB), has been identified to be increased in Williams syndrome (WS) and suggested as a potential cause of increased risk of sudden cardiac death. The Bazett formula tends to overestimate QTc in higher heart rates. We performed a retrospective chart revie w of WS patients with ≥ 1 electrocardiogram (EKG) with sinus rhythm, no evidence of bundle branch blocks, and measurable intervals. A total of 280 EKGs from 147 patients with WS were analyzed and 123 EKGs from 123 controls. The QTc was calculated using Bazett formula. The average QTcB for indi v...
Source: Pediatric Cardiology - April 2, 2022 Category: Cardiology Source Type: research
