Pragmatic skills in people with Williams syndrome: the perception of families
One of the most challenging linguistic areas in people with Williams Syndrome throughout their evolutionary stage is the development of pragmatic skills. The research conducted so far highlights specific probl... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 1, 2024 Category: Internal Medicine Authors: Esther Moraleda Sep úlveda and Patricia López Resa Tags: Research Source Type: research

Electrocardiograms Do Not Detect Myocardial Ischemia in Patients With Williams Syndrome and Nonsyndromic Elastin Arteriopathy With Coronary Artery Stenosis
Coronary artery stenosis (CAS) may affect up to 27% of patients with Williams syndrome (WS), which may lead to myocardial ischemia. Patients with WS face a 25- to 100-fold greater risk of sudden cardiac death, frequently linked to anesthesia. Assessing CAS requires either imaging while under general anesthesia or intraoperative assessment, with the latter considered the gold standard. Our study aimed to identify electrocardiogram (ECG) markers of myocardial ischemia in patients with WS or nonsyndromic elastin arteriopathy and documented CAS. (Source: The American Journal of Cardiology)
Source: The American Journal of Cardiology - February 7, 2024 Category: Cardiology Authors: Claudia Algaze, Henry Chubb, Anna M. Deitch, Thomas Collins Source Type: research

Aphasia subsequent to stroke in adults with Williams syndrome or autism: A review
. (Source: Aphasiology)
Source: Aphasiology - February 5, 2024 Category: Speech-Language Pathology Authors: Sierra SilvaRhiannon PhillipsJamie E. BlossMatthew Walenskia Department of Communication Science and Disorders, East Carolina University, Greenville, USAb Laupus Health Sciences Library, East Carolina University, Greenville, USA Source Type: research

Comparison of the Sensory Profile Among Autistic Individuals and Individuals with Williams Syndrome
CONCLUSION: This study highlights the cross-syndrome similarities and differences in sensory profiles and developmental changes in autistic individuals and individuals with WS.PMID:38281276 | DOI:10.1007/s10803-023-06205-1 (Source: Journal of Autism and Developmental Disorders)
Source: Journal of Autism and Developmental Disorders - January 28, 2024 Category: Psychiatry Authors: Masahiro Hirai Ayaka Ikeda Takeo Kato Takahiro Ikeda Kosuke Asada Yoko Hakuno Kanae Matsushima Tomonari Awaya Shin Okazaki Toshihiro Kato Toshio Heike Masatoshi Hagiwara Takanori Yamagata Kiyotaka Tomiwa Ryo Kimura Source Type: research

Buspirone for the treatment of anxiety in Williams syndrome: a retrospective chart review study
CONCLUSIONS: In this retrospective study, the majority of patients responded to a 16-week course of buspirone. Prospective studies are warranted to further assess the efficacy and tolerability of buspirone for anxiety in WS.PMID:38247447 | DOI:10.1080/14656566.2024.2308678 (Source: Expert Opinion on Pharmacotherapy)
Source: Expert Opinion on Pharmacotherapy - January 22, 2024 Category: Drugs & Pharmacology Authors: Eva Shin Danielle Renzi Camila Canales Caitlin Ravichandran Christopher J McDougle Robyn P Thom Source Type: research

GSE252761 Loss of GTF2I promotes neuronal apoptosis and synaptic reduction in human cellular models of neurodevelopment
Contributors : Jason W Adams ; Annabelle Vinokur ; Janaina S de Souza ; Charles Austria ; Bruno S Guerra ; Roberto H Herai ; Karl J Wahlin ; Alysson R MuotriSeries Type : Expression profiling by high throughput sequencingOrganism : Homo sapiensIndividuals with Williams syndrome (WS), a multisystemic neurodevelopmental disorder, characteristically portray a hypersocial phenotype. WS is caused by the hemizygous loss of 26-28 genes at chromosomal locus 7q11.23, one of which is GTF2I. Copy number variations and mutations in GTF2I are associated with altered sociality and have been proposed to underlie the hypersocial express...
Source: GEO: Gene Expression Omnibus - January 11, 2024 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Homo sapiens Source Type: research

Adult-onset idiopathic peripheral pulmonary artery stenosis
Extract Peripheral pulmonary artery stenosis (PPS) is defined as the obstruction of the pulmonary artery from the pulmonary artery trunk to the peripheral arteries. PPS is considered a paediatric-onset disease associated with systemic congenital diseases (congenital rubella syndrome, Williams syndrome, Alagille syndrome, Ehlers–Danlos syndrome and Noonan syndrome) [1–4]. Apart from PPS associated with congenital syndromes, adult-onset idiopathic PPS has been reported [5]; however, it is rare and has not been reported in more than 10 cases. Transcatheter pulmonary angioplasty for chronic thromboembolic pulmonary...
Source: European Respiratory Journal - December 21, 2023 Category: Respiratory Medicine Authors: Tamura, Y., Tamura, Y., Shigeta, A., Hosokawa, K., Taniguchi, Y., Inami, T., Adachi, S., Tsujino, I., Nakanishi, N., Sato, K., Sakamoto, J., Tanabe, N., Takama, N., Nakamura, K., Kubota, K., Komura, N., Kato, S., Yamashita, J., Takei, M., Joho, S., Ishii, Tags: Pulmonary vascular disease Original Articles: Pulmonary vascular disease Source Type: research

The results of genetic analysis and clinical outcomes after stent deployment in adult patients with isolated peripheral pulmonary artery stenosis
Extract Peripheral pulmonary arterial stenosis (PPAS) is commonly observed in paediatric patients with associated congenital heart disease or systemic congenital syndromes, such as tetralogy of Fallot and Williams syndrome [1]. Meanwhile, isolated PPAS without other structural heart disease or systemic congenital syndromes is primarily reported in adulthood [2]. Recent genetic analyses have revealed that four cases of isolated PPAS in adulthood were homozygous for the ring finger protein 213 (RNF213) p.Arg4810Lys variant (also referred to as G to A alteration of rs112735431 and NM_001256071.3:c.14429G>A) [3]. RNF213 p.A...
Source: European Respiratory Journal - December 21, 2023 Category: Respiratory Medicine Authors: Kanezawa, M., Shimokawahara, H., Tsuji, M., Suruga, K., Miyagi, A., Marunaka, M., Mukai, T., Kawaguchi, T., Yang, T.-Y., Yamaguchi, I., Nagasaki, M., Matsuda, F., Matsubara, H. Tags: Pulmonary vascular disease Research Letters Source Type: research

Strategies for the Surgical Management of Highly Aggressive Williams Syndrome Aortopathy: A Three Case Report
AbstractSevere aortopathy in Williams syndrome can sometimes present with an initial ascending aortic pathology, followed in short order by more distal multilevel obstruction and recurrence requiring reintervention. In this series, an early, comprehensive surgical approach using a combination of various access and perfusion strategies yielded excellent long-term results. (Source: Pediatric Cardiology)
Source: Pediatric Cardiology - December 17, 2023 Category: Cardiology Source Type: research

Loss of Baz1b in mice causes perinatal lethality, growth failure, and variable multi-system outcomes
Dev Biol. 2023 Oct 10:S0012-1606(23)00161-6. doi: 10.1016/j.ydbio.2023.09.007. Online ahead of print.ABSTRACTBAZ1B is one of 25-27 coding genes deleted in canonical Williams syndrome, a multi-system disorder causing slow growth, vascular stenosis, and gastrointestinal complaints, including constipation. BAZ1B is involved in (among other processes) chromatin organization, DNA damage repair, and mitosis, suggesting reduced BAZ1B may contribute to Williams syndrome symptoms. In mice, loss of Baz1b causes early neonatal death. 89.6% of Baz1b-/- mice die within 24 h of birth without vascular anomalies or congenital heart diseas...
Source: Developmental Biology - October 12, 2023 Category: Biology Authors: Christopher Pai Basil A McIntosh Russell H Knutsen Mark D Levin Kit Man Tsang Beth A Kozel Robert O Heuckeroth Source Type: research

Loss of Baz1b in mice causes perinatal lethality, growth failure, and variable multi-system outcomes
Dev Biol. 2023 Oct 10:S0012-1606(23)00161-6. doi: 10.1016/j.ydbio.2023.09.007. Online ahead of print.ABSTRACTBAZ1B is one of 25-27 coding genes deleted in canonical Williams syndrome, a multi-system disorder causing slow growth, vascular stenosis, and gastrointestinal complaints, including constipation. BAZ1B is involved in (among other processes) chromatin organization, DNA damage repair, and mitosis, suggesting reduced BAZ1B may contribute to Williams syndrome symptoms. In mice, loss of Baz1b causes early neonatal death. 89.6% of Baz1b-/- mice die within 24 h of birth without vascular anomalies or congenital heart diseas...
Source: Developmental Biology - October 12, 2023 Category: Biology Authors: Christopher Pai Basil A McIntosh Russell H Knutsen Mark D Levin Kit Man Tsang Beth A Kozel Robert O Heuckeroth Source Type: research

17.2 Symptomatic and Mechanism-Based Treatments for Neuropsychiatric Symptoms in Williams Syndrome
Williams syndrome (WS) is a neurogenetic condition caused by a microdeletion in the long arm of chromosome 7, occurring in approximately 1 in 20,000 live births. WS is associated with medical comorbidities, cognitive deficits, and high rates of psychiatric comorbidities. Most individuals with WS cope with at least 1 psychiatric comorbidity, including ADHD and anxiety disorders. In addition, individuals with WS present unique behavioral phenotypes marked by increased social appetite. (Source: Journal of the American Academy of Child and Adolescent Psychiatry)
Source: Journal of the American Academy of Child and Adolescent Psychiatry - October 1, 2023 Category: Psychiatry Authors: Boaz Barak Source Type: research

Dorsal visual stream and LIMK1: hemideletion, haplotype, and enduring effects in children with Williams syndrome
ConclusionsThis work offers insight into neurobiological and genetic mechanisms responsible for the WS phenotype and also more generally provides a striking example of the mechanisms by which genetic variation, acting by means of molecular effects on a neural intermediary, can influence human cognition and, in some cases, lead to neurocognitive disorders. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - August 26, 2023 Category: Neurology Source Type: research

Diversity of Participants in Williams Syndrome Intervention Studies
CONCLUSION: There is a low frequency of reporting on several demographic factors including socioeconomic status, race, and ethnicity in WS intervention studies. There is a need for increased representation of racial and ethnic minority groups, older participants, and more cognitively impaired patients in WS research.PMID:37584767 | DOI:10.1007/s10803-023-06088-2 (Source: Journal of Autism and Developmental Disorders)
Source: Journal of Autism and Developmental Disorders - August 16, 2023 Category: Psychiatry Authors: Eva Shin Caitlin Ravichandran Danielle Renzi Barbara R Pober Christopher J McDougle Robyn P Thom Source Type: research