Congenital arterial stenosis such as supravalvar aortic stenosis (SVAS) are highly prevalent in Williams syndrome (WS) and other arteriopathies pose a substantial health risk. Conventional tools for severity assessment, including clinical findings and pressure gradient estimations, often fall short due to their susceptibility to transient physiological changes and disease stage influences. Moreover, in the pediatric population, the severity of these and other congenital heart defects (CHDs) often restricts the applicability of invasive techniques for obtaining crucial physiological data. Conversely, evaluating CHDs and their progression requires a comprehensive understanding of intracardiac blood flow. Current imaging modalities, such as blood speckle imaging (BSI) and four-dimensional magnetic resonance imaging (4D MRI) face limitations in resolving flow data, especially in cases of elevated flow velocities. To address these challenges, we devised a computational framework employing zero-dimensional (0D) lumped parameter models coupled with patient-specific reconstructed geometries pre- and post-surgical intervention to execute computational fluid dynamic (CFD) simulations. This framework facilitates the analysis and visualization of intricate blood flow patterns, offering insights into geometry and flow dynamics alterations impacting cardiac function. In this study, we aim to assess the efficacy of surgical intervention in correcting an extreme aortic defect in a patient with WS, leading to reductions in wall shear stress (WSS), maximum velocity magnitude, pressure drop, and ultimately a decrease in cardiac workload.

Williams-Beuren syndrome is a rare genetic disease (1/20 000) characterized by a microdeletion at 7q11.23 encompassing about 28 genes, including the elastin gene, ELN. It is a sporadic disease in the majority of cases. Easily identifiable in childhood, this developmental disorder associates suggestive face dysmorphism, cardiac defect, psychomotor retardation and specific behavioural and cognitive profile. We conducted a retrospective study of 11 patients with Williams-Beuren syndrome whose data were collected in the Genetics Department of the Mohammed VI University Hospital of Marrakech. The average age of patients was 6.05 years (SD=6.56; interquartile range=5), with a female predominance (64%; 7/11 patients). Almost all patients were mentally retarded and the diagnosis was confirmed in 100% (11) of patients using fluorescence in situ hybridisation (FISH).

UNASSIGNED: Williams syndrome (WS) is a rare genetic disorder associated with a high prevalence of anxiety disorders. Evidence-based pharmacologic treatments for anxiety in WS are lacking. The purpose of this study is to provide naturalistic data on the use of buspirone for the treatment of anxiety in WS.
UNASSIGNED: Medical records of 24 individuals with Williams syndrome (ages 7-47 years) and anxiety who received treatment with buspirone were reviewed. Treatment response to buspirone was rated by assigning a retrospective Clinical Global Impression Improvement subscale (CGI-I) score.
UNASSIGNED: Twenty-three of 24 (96%) patients completed at least a 16-week treatment course with buspirone. Sixteen patients (67%; 95% CI 47%, 82%) were treatment responders (CGI-I ≤ 2). Only 1 (4%) patient discontinued buspirone due to a treatment-emergent side effect (nausea and vomiting). The most common side effect was nausea (13%). Twenty (84%) patients remained on buspirone at the time of their most recent follow-up visit.
UNASSIGNED: 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.

BACKGROUND: Although physical, cognitive and behavioural manifestations of Williams syndrome (WS) affect every dimension of caregivers lives, no studies on the parental experiences of caring for a WS child have to date been carried out in Poland.
METHODS: In order to identify the challenges and needs of Polish carers of WS children a survey was conducted with 32 family caregivers who were supported by the Polish Williams Syndrome Association.
RESULTS: While caregivers were mostly challenged by their WS child\'s behaviours, health problems and mood swings, many parents experienced fatigue, intimacy problems with the partner and deterioration of mental health. They were also burdened by the lack of time for themselves and work restrictions resulting from caregiving responsibilities. Even though parents positively assessed quality of medical care for WS children, still many expressed their dissatisfaction both with the way the healthcare system for WS children works in Poland and complained about the doctors\' lack of knowledge about WS, access to specialist care and lack of support from government and social institutions. Although many parents stressed positive impact of rising WS child, more than half experienced role captivity or role overload and felt not being understood by others. They also experienced variety of distressing emotions, including impatience, emotional lability, helplessness, anxiety and depression.
CONCLUSIONS: Although many WS parents stressed the affirmative aspect of raising WS child this research shows that the burden of caring for such a child goes far beyond clinical aspects and seriously affects every aspect of parents\' lives, including their mental health, daily lives, family, their professional and social lives. Because apart from the daily challenges related to caring for a WS child, parents\' dealings with the healthcare system and support services represent major problems there is a the need for a bio-psychosocial approach to WS that should include not only WS children, but also their caregivers. WHAT THIS PAPER ADDS?: 1. It analyses the challenges and needs of parents caring for children with Williams syndrome; 2. It provides evidence that the impact of caring for WS children goes far beyond clinical aspects and seriously affects every aspect of parents\' lives, including their mental health, daily lives, family, their professional and social lives; 3. It also shows that, apart from the daily challenges related to caring for a WS child, parents\' dealings with the healthcare system and support services represent major problems. 4. Thereby, it highlights the importance of incorporating a bio-psychosocial approach to WS that should include not only WS children, but also their caregivers.

Individuals with Williams Syndrome (WS) have a specific and atypical neuropsychological profile, where language is above what is expected for their mental age, although it shows a late onset. There exists only one longitudinal study in infants younger than 20 months old with WS about early language precursors (joint attention, referential and instrumental behaviors, pointing gesture, verbal tags). The aim of this investigation is to evaluate these precursors in a baby with WS (8 to 18 months). Seven sessions of systematic observation were performed (six at baby\'s home, one at the Early Childhood Assistance center). The Battelle Developmental Inventory was used to evaluate the baby\'s development in two occasions (12 and 18 months). The results show an atypical development, and he is 5-6 months under what is expected for his chronological age. Attention towards objects prevails over preference for faces, but this one tends to increase. The pointing gesture does not emerge at the end of the observation period and therefore follows the first words that appear. The implications for the comprehension of the early linguistic profile in WS are discussed, as well as the implications for specific intervention strategies in the context of early childhood care.

Williams Syndrome (WS) involves high rates of psychopathology across the lifespan. However, little is known about the early, longitudinal trajectory of internalising/externalising symptoms or the association between these and the family environment in WS. WS (n = 16; aged 2 years, 2 months to 9 years, 5 months) and typically developing or TD (n = 46; aged 2 years, 2 months to 11 years, 1 month) children were assessed on two occasions over 2.5 years utilising parent report questionnaires-the Child Behaviour Checklist and the Family Environment Scale. No statistically significant changes were found in CBCL/psychopathology profiles across timepoints, on average, for either WS or TD children. However, reliable change scores showed WS children had considerable variability in CBCL scores over time. Cross-sectionally, the WS group showed higher scores (reflecting more psychopathology) compared to TD controls at both time points across most CBCL subscales, with elevated overall psychopathology problems identified in 56-68% of WS children (versus 8% in TD controls). Psychopathology was not associated with sex, chronological age, or cognitive ability in WS. Conflict in the family environment was positively associated with higher Attention Problems at Time 1 in the WS group, whilst the TD group showed associations between family conflict and total psychopathology problems at both time points and between family cohesion and total psychopathology problems at Time 2. Family environment did not differ between groups, except for lower engagement in intellectual and cultural activities in WS. Findings highlight variable Internalising and Externalising Problems in young WS children over time, with greater biological than environmental contributions to psychopathology in WS.

OBJECTIVE: Cardiovascular abnormalities are common in patients with Williams syndrome and frequently require surgical intervention necessitating analgesia and sedation in a population with a unique neuropsychiatric profile, potentially increasing the risk of adverse cardiac events during the perioperative period. Despite this risk, the overall postoperative analgosedative requirements in patients with WS in the cardiac intensive care unit have not yet been investigated. Our primary aim was to examine the analgosedative requirement in patients with WS after cardiac surgery compared to a control group. Our secondary aim was to compare the frequency of major ACE and mortality between the two groups.
METHODS: Matched case-control study.
METHODS: Pediatric CICU at a Tertiary Children\'s Hospital.
METHODS: Patients with WS and age-matched controls who underwent cardiac surgery and were admitted to the CICU after cardiac surgery between July 2014 and January 2021.
METHODS: None.
RESULTS: Postoperative outcomes and total doses of analgosedative medications were collected in the first six days after surgery for the study groups. Median age was 29.8 (12.4-70.8) months for WS and 23.5 (11.2-42.3) months for controls. Across all study intervals (48 h and first 6 postoperative days), there were no differences between groups in total doses of morphine equivalents (5.0 mg/kg vs 5.6 mg/kg, p = 0.7 and 8.2 mg/kg vs 10.0 mg/kg, p = 0.7), midazolam equivalents (1.8 mg/kg vs 1.5 mg/kg, p = 0.4 and 3.4 mg/kg vs 3.8 mg/kg, p = 0.4), or dexmedetomidine (20.5 mcg/kg vs 24.4 mcg/kg, p = 0.5 and 42.3 mcg/kg vs 39.1 mcg/kg, p = 0.3). There was no difference in frequency of major ACE or mortality.
CONCLUSIONS: Patients with WS received similar analgosedative medication doses compared with controls. There was no significant difference in the frequency of major ACE (including cardiac arrest, extracorporeal membrane oxygenation, and surgical re-intervention) or mortality between the two groups, though these findings must be interpreted with caution. Further investigation is necessary to elucidate the adequacy of pain/sedation control, factors that might affect analgosedative needs in this unique population, and the impact on clinical outcomes.

Individuals with neurodevelopmental conditions (NDCs) have been reported to experience increased levels of anxiety during the COVID-19 pandemic. In our study, we document how individuals with Down Syndrome (DS; N = 557; Mage = 16.52; 233 female) and Williams syndrome (WS, N = 247; Mage = 18.43; 113 female) experienced the first wave (April 2020-May 2020) of the COVID-19 pandemic across the world. Using multilevel linear mixed regressions, we studied (a) parental reported anxiety of individuals with DS and WS, (b) these individuals\' specific concerns, and (c) their use and efficacy of emotion regulation (ER) strategies during the first wave of COVID-19. Predictors of anxiety, such as the age of the individual with NDC, type of condition, and time, were investigated. Individuals with WS experienced higher levels of anxiety compared to those with DS and the older the individuals with NDC were the more anxiety they experienced. In terms of concerns, group effects indicated that individuals with WS scored higher for most of the concerns. There were no gender differences in concerns, yet most of the concerns increased with age except for concerns about loss of routine, boredom, loss of institutional support and family conflict. Finally, significant group effects were found and indicated a more frequent use of a variety of adaptive and maladaptive ER strategies in individuals with WS. We did not identify group differences in the efficacy of ER strategies. Our results indicate that individuals with WS are likely to exhibit higher levels of anxiety, but also higher levels of concerns depending on their age. Similarly, individuals with WS use a variety of ER strategies more frequently but these strategies are not necessarily more efficient for them. We discuss the impact of these findings in relation to anxiety identification and support across individuals with NDCs.

Supravalvar aortic stenosis (SVAS) is a less common but clinically important form of left ventricular outflow tract obstruction, and commonly associated with Williams syndrome (WS). SVAS outside of WS may also occur sporadically or in a familial form, often with identifiable mutations in the elastin (ELN) gene. While risk of sudden cardiac death in patients with SVAS has been extensively described in the context of WS, less is known about risk in patients with isolated SVAS. We report a case of a nonsyndromic two-year-old boy with evolving manifestations of SVAS who developed sudden cardiac arrest and death during a sedated cardiac magnetic resonance imaging study. A strong family history of SVAS was present and targeted genetic testing identified an ELN gene mutation in the boy\'s affected father and other paternal relatives. We review risk factors found in the literature for SCA in SVAS patients and utilize this case to raise awareness of the risk of cardiac events in these individuals even in the absence of WS or severe disease. This case also underscores the importance of genetic testing, including targeted panels specifically looking for ELN gene mutations, in all patients with SVAS even in the absence of phenotypic concerns for WS or other genetic syndromes.

UNASSIGNED: Individuals with neurodevelopmental disorders often have atypical emotion profiles, but little is known about how they regulate their emotions. While several studies have examined emotion regulation strategy use in autism spectrum disorder (ASD), only a few have included individuals with intellectual disability (ID) or focused on specific syndromes such as Williams syndrome (WS).
UNASSIGNED: A parent-reported survey launched during the first months of the COVID-19 pandemic allowed to exploratorily study emotion regulation strategy use and its link to anxiety in individuals with ASD with (N=785) and without ID (N=596), WS (N=261), and Intellectual Disability not otherwise specified (N=649).
UNASSIGNED: Using multilevel analyses, besides revealing specific group differences in emotion regulation strategy use, a variety of strategies (e.g., rumination, avoiding information, repetitive behaviors) were found to be linked to elevated levels of anxiety, while focusing on the positive was linked to lower anxiety levels in all groups. Moreover, only autistic people without ID used humor more frequently while experiencing lower anxiety levels.
UNASSIGNED: This study sheds light on an underexplored area of emotion regulation strategy use in different neurodevelopmental disorders. It also paves the way to further examine emotion regulation in more rigorous ways to better understand emotion regulation in different neurodevelopmental disorders as well as the impact on outcome measures such as anxiety. This exploratory study may help to develop and validate adequate measures to study a broad array of ER strategies used by individuals with neurodevelopmental disorders.