Narcolepsy due to a medical condition

"Narcolepsy due to a medical condition” (symptomatic or secondary narcolepsy) results from a specific underlying medical or neurological condition. Common causes are inherited disorders, tumors, head trauma, demyelinating diseases and stroke. Similar to idiopathic narcolepsy, aberrant T cell mediated cytotoxicity to host antigens in hypocretin neurons might be the underlying pathophysiology. Secondary narcolepsy cases have varying ages of onset, typically following a specific underlying medical or neurological disorder. Primary sleep disorders, mental disorders, or drug/substance use needs to be ruled out. Although the main treatment should be controlling underlying pathologic processes, use of wake promoting medications are often warranted. © 2023 Elsevier Inc. All rights reserved

The effects of remote acceptance and commitment therapy on parent and child behavior

A non-concurrent multiple baseline design in conjunction with a within-subject group design was used in this extension study employing an asynchronous and synchronous model to deliver an Acceptance and Commitment Therapy (ACT) training program for parents of children with Prader Willi Syndrome (PWS) and Autism Spectrum Disorder (ASD) during the COVID-19 pandemic. There were five parents who completed a six-week online ACT parent training delivered asynchronously and synchronously followed by a two-week maintenance phase. Each session included specific topics and exercises which were: (a) values identification;(b) present moment awareness;(c) defusion;(d) the Matrix (moving toward/away);(e) committed action;and (f) self-care. Pretest and posttest measures were completed by the participants which assessed parental stress (Abidin, 1995;PSI-4-SF), psychological flexibility (Bond et al., 2011;AAQ-II), self-compassion (Neff et al., 2021;SC-SF) and child behaviors (Sparrow et al., 2016;VABS-3, Maladaptive Behavior Domain). To summarize the findings, participant data indicated improvements in parental stress, self-compassion, and psychological flexibility from pre- to post-intervention. Additionally, parent overt value directed behaviors increased from baseline through intervention and were maintained post-treatment. Child behavior outcomes varied across the children of parent participants but overall had an increasing trend for desired behavior and a decreasing trend for maladaptive behavior. (PsycInfo Database Record (c) 2022 APA, all rights reserved)

Intranasal Carbetocin Reduces Hyperphagia, Anxiousness, and Distress in Prader-Willi Syndrome: CARE-PWS Phase 3 Trial.

CONTEXT: Prader-Willi syndrome (PWS) is a rare genetic disorder characterized by endocrine and neuropsychiatric problems including hyperphagia, anxiousness, and distress. Intranasal carbetocin, an oxytocin analog, was investigated as a selective oxytocin replacement therapy. OBJECTIVE: To evaluate safety and efficacy of intranasal carbetocin in PWS. DESIGN: Randomized, double-blind, placebo-controlled phase 3 trial with long-term follow-up. SETTING: Twenty-four ambulatory clinics at academic medical centers. PARTICIPANTS: A total of 130 participants with PWS aged 7 to 18 years. INTERVENTIONS: Participants were randomized to 9.6 mg/dose carbetocin, 3.2 mg/dose carbetocin, or placebo 3 times daily during an 8-week placebo-controlled period (PCP). During a subsequent 56-week long-term follow-up period, placebo participants were randomly assigned to 9.6 mg or 3.2 mg carbetocin, with carbetocin participants continuing at their previous dose. MAIN OUTCOME MEASURES: Primary endpoints assessed change in hyperphagia (Hyperphagia Questionnaire for Clinical Trials [HQ-CT]) and obsessive-compulsive symptoms (Children's Yale-Brown Obsessive-Compulsive Scale [CY-BOCS]) during the PCP for 9.6 mg vs placebo, and the first secondary endpoints assessed these same outcomes for 3.2 mg vs placebo. Additional secondary endpoints included assessments of anxiousness and distress behaviors (PWS Anxiousness and Distress Behaviors Questionnaire [PADQ]) and clinical global impression of change (CGI-C). RESULTS: Because of onset of the COVID-19 pandemic, enrollment was stopped prematurely. The primary endpoints showed numeric improvements in both HQ-CT and CY-BOCS which were not statistically significant; however, the 3.2-mg arm showed nominally significant improvements in HQ-CT, PADQ, and CGI-C scores vs placebo. Improvements were sustained in the long-term follow-up period. The most common adverse event during the PCP was mild to moderate flushing. CONCLUSIONS: Carbetocin was well tolerated, and the 3.2-mg dose was associated with clinically meaningful improvements in hyperphagia and anxiousness and distress behaviors in participants with PWS. CLINICAL TRIALS REGISTRATION NUMBER: NCT03649477.

Diazoxide Choline Extended-Release Tablet in People With Prader-Willi Syndrome: A Double-Blind, Placebo-Controlled Trial.

CONTEXT: Prader-Willi syndrome (PWS) is a rare neurobehavioral-metabolic disease caused by the lack of paternally expressed genes in the chromosome 15q11-q13 region, characterized by hypotonia, neurocognitive problems, behavioral difficulties, endocrinopathies, and hyperphagia resulting in severe obesity if not controlled. OBJECTIVE: The primary end point was change from baseline in hyperphagia using the Hyperphagia Questionnaire for Clinical Trials (HQ-CT). Other end points included Global Impression Scores, and changes in body composition, behaviors, and hormones. METHODS: In DESTINY PWS, a 13-week, randomized, double-blind, placebo-controlled, phase 3 trial, 127 participants with PWS aged 4 years and older with hyperphagia were randomly assigned 2:1 to diazoxide choline extended-release tablet (DCCR) or placebo. RESULTS: DCCR did not significantly improve hyperphagia (HQ-CT least-square mean (LSmean) [SE] -5.94 [0.879] vs -4.27 [1.145]; P = .198), but did so in participants with severe hyperphagia (LSmean [SE] -9.67 [1.429] vs -4.26 [1.896]; P = .012). Two of 3 secondary end points were improved (Clinical Global Impression of Improvement [CGI-I]; P = .029; fat mass; P = .023). In an analysis of results generated pre-COVID, the primary (HQ-CT; P = .037) and secondary end points were all improved (CGI-I; P = .015; Caregiver Global Impression of Change; P = .031; fat mass; P = .003). In general, DCCR was well tolerated with 83.3% in the DCCR group experiencing a treatment-emergent adverse event and 73.8% in the placebo group (not significant). CONCLUSION: DCCR did not significantly improve hyperphagia in the primary analysis but did in participants with severe baseline hyperphagia and in the pre-COVID analysis. DCCR treatment was associated with significant improvements in body composition and clinician-reported outcomes.

The effects of remote acceptance and commitment therapy on parent and child behavior

A non-concurrent multiple baseline design in conjunction with a within-subject group design was used in this extension study employing an asynchronous and synchronous model to deliver an Acceptance and Commitment Therapy (ACT) training program for parents of children with Prader Willi Syndrome (PWS) and Autism Spectrum Disorder (ASD) during the COVID-19 pandemic. There were five parents who completed a six-week online ACT parent training delivered asynchronously and synchronously followed by a two-week maintenance phase. Each session included specific topics and exercises which were: (a) values identification;(b) present moment awareness;(c) defusion;(d) the Matrix (moving toward/away);(e) committed action;and (f) self-care. Pretest and posttest measures were completed by the participants which assessed parental stress (Abidin, 1995;PSI-4-SF), psychological flexibility (Bond et al., 2011;AAQ-II), self-compassion (Neff et al., 2021;SC-SF) and child behaviors (Sparrow et al., 2016;VABS-3, Maladaptive Behavior Domain). To summarize the findings, participant data indicated improvements in parental stress, self-compassion, and psychological flexibility from pre- to post-intervention. Additionally, parent overt value directed behaviors increased from baseline through intervention and were maintained post-treatment. Child behavior outcomes varied across the children of parent participants but overall had an increasing trend for desired behavior and a decreasing trend for maladaptive behavior. (PsycInfo Database Record (c) 2022 APA, all rights reserved)

Trend of Obesity and Body Mass Index (Bmi) before and after the Covid-19 Lockdown in Children 2-19 Years of Age Presented to Ambulatory Clinics at a Community Hospital

Background: In March 2020, World Health Organization declared COVID-19 outbreak a pandemic, with children forced to be away from structured school settings making them experience circumstances that could accelerate weight gain, including increased stress, irregular mealtimes, increased screen time, and lesss physical activity. Recent studies showed increased body mass index (BMI) trends in children during COVID-19 pandemic and recommended replicating this result with other population. Our study aims to measure the BMI trends before and after the COVID-19 pandemic lockdown in children 2-19 years of age presented to ambulatory clinics at a local community with the majority of black race. Method(s): A retrospective study on children aged 2-19 years who presented to ambulatory clinics affiliated with Brookdale Hospital, New York from 10/1/2018 to 10/31/2021. We included subjects with at least two BMI readings before COVID-19 lock down in March 2020, and at least one reading afterwards. Children who were underweight at baseline (BMI percentile < 5) or with medical conditions that may cause impact on weight such as endocrinological conditions (e.g. diabetes mellitus or hypothyroidism), genetic (e.g. Prader Willi syndrome), gastrointestinal diseases (e.g. inflammatory bowel disease or celiac disease), psychiatric diagnoses (e.g. eating disorders), as well as children who received systemic steroids > 2 weeks, were excluded from the study. Two baseline BMI readings were taken for all subjects during the pre-COVID period from October 2018 until March 2020 (one during the first 9 months, baseline-1;and second during the following 9 months, baseline-2). In the post-COVID period, the latest BMI measurement for the same cohort, at least 9 months from COVID-19 lockdown, was retrieved for comparison. Data was analyzed using SPSS software. The percentage of overweight and obese children was compared between different timelines using Chi-squared test. Change of BMI percentiles over time was tested for significance using the Wilcoxon Signed Ranks test. Result(s): After implementing the exclusion criteria, final number of studied patients was 3713. Children < 5 years old were 905 (24.4%), 5-12 years old were 1707 (46%), and > 12 years old were 1101 (29.7%). The median age (IQR) was 9 (5-12) years, with 1844 (49.6%) males. Black race accounted for 1777 (47.9%) while Hispanics or Latinos were 470 (12.7%), with other ethnicities being 1466 (39.4%). There was no difference in the percentage of obese children from baseline-1 (806/3713=21.7%) to baseline-2 (829/3713=22.3%), p-value=0.795, but this increased significantly in the post-COVID period (1136/3713= 30.6%), p-value <0.001 (figure 1). There was no significant change in the percentage of overweight children between the three timelines. The BMI percentile median (IQR) did not change between baseline-1 = 70 (36-93) and baseline-2 = 71 (35- 93), however, this increased significantly to 81 (36-93) in the post-COVID period, p-value<0.001 compared to both baseline-1 and baseline-2. Comparing the change in BMI percentiles from baseline 2 to post-COVID in the different age groups, it was more evident in the <5 years age group (median increment of 4.3 percentile) and 5-12 years age group (median increment of 3.9 percentile) compared to the >12 years age group (median increment of 0.7 percentile), p-value<0.001 (table 1). Conclusion(s): In our local community, COVID-19 lockdown resulted in a higher prevalence of obesity and an overall increase in BMI percentiles among children aged 2-19 years. The increase in BMI percentiles was more evident in children less than 12 years of age.

The Feasibility and Effectiveness of a Novel, On-Line Social Skills Intervention for Individuals With Prader-Willi Syndrome.

Introduction: People with neurodevelopmental disabilities, including Prader-Willi syndrome (PWS), are at heightened risk for the negative sequalae of loneliness, including depression and anxiety. While societal factors such as stigma or limited social opportunities contribute to loneliness, so too do deficits in social cognition and social skills. People with PWS have specific difficulties recognizing affect in others, accurately interpreting social interactions, and taking the perspectives of others. These features, combined with hyperphagia, rigidity, and insistence on sameness conspire to impede the abilities of people with PWS to make and sustain friendships and reduce feelings of loneliness. Methods: We developed and administered an intervention, Building Our Social Skills (BOSS), that aimed to improve social skill deficits in PWS. The 10-week intervention was administered on-line via Zoom to 51 young people with PWS in the U.S. (M age = 20.8, SD = 6.42). Two clinicians co-led groups of 6-8 participants in 30-min sessions, 3 times per week, and also trained 4 graduate students to co-lead groups with high fidelity. We used a pre-post intervention and 3-month follow-up design, with no control group, and mitigated this design limitation by triangulating across informants and methodologies. Specifically, parents completed the widely used Social Responsiveness Scale (SRS) and Child Behavior Checklist (CBCL), and participants were individually interviewed about their friendships and loneliness. Interview responses were reliably coded by independent raters. Results: Repeated measure multivariate analyses, with baseline values entered as covariates, revealed significant pre-to post-test improvements in the SRS's social cognition, motivation and communication subscales (p's < 0.001), with large effect sizes ( n p 2 = 0.920, 0.270, and 0.204, respectively). Participant and parental reports of loneliness were correlated with the CBCL's Internalizing domain, specifically the Anxiety/Depressed subdomain. Over time, parents reported getting along better with peers, increased contact with friends, more friends and less loneliness. Participants also reported significantly less loneliness and more friends. Conclusions: This mixed method, proof-of-concept study demonstrated the feasibility of delivering an on-line social skills intervention to young people with PWS. As no differences were found between clinician vs. graduate student outcomes, the BOSS curriculum holds considerable promise for wider dissemination and implementation in the PWS community.

Growth hormone therapy in children with Schaaf-Yang-Syndrome

Introduction: Schaaf-Yang-Syndrome (SYS, OMIM # 615547) is caused by truncating variants of the paternal allele of the maternally imprinted, paternally expressed gene MAGEL2 in the Prader-Willi critical region 15q11–15q13. Prader-Willi syndrome (PWS) and SYS share several phenotypic features, including muscular hypotonia, developmental delay/intellectual disability, and short stature. Evidence exists that similar to PWS, Growth Hormone (GH) deficiency is also a feature of SYS. Since 2000, GH therapy has been approved by the Federal Drug Agency (FDA) for PWS, which poses the question if GH therapy is a suitable treatment for children with SYS. Objective: To assess the prevalence of GH therapy in SYS children, its effect on the clinical endpoints height and body mass index (BMI), possible side effects and parents’ perception of changes during the therapy. Methods: Twenty-eight individuals diagnosed with SYS were recruited through CP Schaaf and the closed Facebook group for SYS. Patients were sent a consent form, a clinical questionnaire, and asked for growth charts of the affected children. Feedback on muscle strength, endurance and satisfaction was measured on a 5-level Likert scale. Height and BMI Z Scores (defined as the standard deviation of average height or BMI compared to children of the same sex and age) were calculated using WHO/CDC data and the PedZ calculator. The effect size of GH therapy was assessed by calculating the change in Height and BMI Z Scoreover the first 6 months of treatment. Data was(figure presented)(figure presented)linearly interpolated if no measurement on exactly 90 and 180 days after treatment start was taken. Results: Of the 28 individuals enrolled, 14 were on GH therapy. Thirteen of the 14 patient families provided feedback for the changes during therapy. Detailed growth charts were available for 8 patients with GH therapy, as well as for 5 patients without GH therapy. GH treatment was initiated at an average age of 2.6 years (range: 5 months up to 8 years). No patient has had to discontinue or interrupt GH therapy. Parental perception of changes after the onset of treatment was unanimously positive: All families noted either an increase (7 patients) or strong increase (6 patients) in muscle strength. For endurance, feedback was exactly the same. Overall, general satisfaction with the treatment was high, with 8 families stating they were very satisfied, 3 families stating they were satisfied and 2 families being neutral. Additional reported benefits were improved cognitive and social skills (6 patients) and improved motor development (5 patients). Negative side effects included worsening of sleep apnea in one individual which did not require further treatment or intervention, and worsening of scoliosis/kyphosis in further two individuals. In both cases of scoliosis, treatment start coincided with local Covid19 restrictions, and physical therapy and new back braces were no longer accessible for both patients.After three months of GH treatment, Height Z Score of the treated group increased on average by +0.70. After six months of treatment, the average increase in Height Z Score was +0.99 (Fig. 1A and 1B). The BMI Z Score of the treated group decreased by −0.48 after three months and by −0.71 after six months of treatment, on average (Fig. 2A and 2B). We calculated Height Z Scores and BMI Z Scores of the treated and nontreated groups, which revealed average Height Z Scores of −1.1 in the treated group, and −3.5 in the non-treated group (Fig. 1C). The average BMI Z Score in the treated group was +0.47, while the average BMI Z Score in the untreated group was +0.93 (Fig. 2C). Conclusion: We present a retrospective, questionnaire-based assessment of GH treatment in individuals with SYS. Our findings suggest that GH therapy should be considered as treatment for SYS. In this cohort, it led to an increase of body height and parental reports suggested an improvement of endurance and muscle strength. Furthermore, several families also noted additional beneficial sideeffects like im roved cognition and motor development. These data pave the way for a prospective clinical trial of GH therapy for individuals with SYS.

The presentation, course and outcome of COVID-19 infection in people with Prader-Willi syndrome: unexpected findings from an international survey.

BACKGROUND: Prader-Willi syndrome (PWS), is a genetically determined neurodevelopmental disorder, associated with intellectual disabilities and a high incidence of obesity, diabetes mellitus, and respiratory disorders. We hypothesised that COVID-19, a viral infection which more severely affects people with these conditions, would, in people with PWS, present atypically and result in severe outcomes. METHOD: A structured on-line questionnaire was piloted with parents and professionals at the International Prader-Willi Syndrome Organization (IPWSO) and promoted internationally through their global network. Family members/other carers were asked to complete if someone they cared for with PWS was strongly suspected or confirmed as having COVID-19. RESULTS: Over 1 year of the pandemic 72 responses were received, 47 adults, 25 children. The following underlying conditions were present: 16 people with PWS were overweight and 18 obese, five had diabetes mellitus and 18 sleep apnoea. Main presenting symptoms were raised temperature, fatigue/daytime sleepiness, dry cough, headache/pain, and feeling unwell, with illnesses generally lasting less than a week. Length of illness was not significantly related to age, BMI, sex, or genetic subtype. No one was ventilated or in an intensive care unit or died, one person was in hospital for four days needing oxygen. CONCLUSIONS: Contrary to our hypothesis, the PWS cohort had asymptomatic infection or mild illness. A possible explanation, supported by anecdotal evidence from parents and professional carers, is that people with PWS have a degree of innate immunity to viral infections. However, likely selection effects and a relatively low number of responses means that further evidence is needed to test this hypothesis.

Intranasal carbetocin reduces hyperphagia and behavioral distress in prader-willi syndrome

Background: Prader-Willi syndrome (PWS) is a rare genetic disorder associated with multiple neuroendocrine abnormalities including decreased hypothalamic oxytocin, resulting in severe hyperphagia and neuropsychiatric and behavioral issues. The CARE-PWS Phase 3 study evaluated safety and efficacy of intranasal carbetocin, a selective oxytocin receptor agonist, in participants with PWS. Methods: Subjects with genetically confirmed PWS aged 7-18 were randomized to carbetocin 9.6mg or 3.2mg or placebo (given TID by nasal spray) for an initial 8-week period. The primary endpoint assessed change through week 8 in hyperphagia (HQ-CT) or obsessive-compulsive (CY-BOCS) scores for the 9.6mg arm vs placebo, and the first secondary endpoint assessed change through week 8 in HQ-CT or CY-BOCS for the 3.2mg arm vs placebo. Secondary endpoints included assessments of behavioral distress (PADQ) and Clinical Global Impression of Change (CGI-C). Results: Due to COVID-19, enrollment was closed early with 119 subjects in the primary analysis. In the carbetocin 9.6mg arm, trends toward improvements in HQ-CT and CGI-C vs placebo were observed but did not reach statistical significance;however, the carbetocin 3.2mg arm showed a significant improvement in HQ-CT scores vs placebo (-3.14, p = 0.016). In the 3.2 mg arm, improvements vs placebo were also seen in multiple secondary endpoints including CGI-C (p = 0.027) and PADQ (p = 0.027). Trends for improvement in CY-BOCS were observed in each dose arm, but did not reach statistical significance. Recent data from the subsequent long-term follow-up period has demonstrated continued numeric improvements from baseline across multiple endpoints in each active treatment arm. Intranasal carbetocin was generally well-tolerated;the most frequently reported adverse event was flushing, which was generally mild and transient. Conclusions: In conclusion, results of the CARE-PWS Phase 3 study support that intranasal carbetocin appears to be safe and well tolerated, and reduces hyperphagia and behavioral distress in PWS.

Effects of COVID-19 Lockdown on Weight, Body Composition, and Behavior of Children, Adolescents, and Young Adults with Prader-Willi Syndrome.

To reduce transmission of the coronavirus disease 2019 (COVID-19), many countries implemented lockdowns, causing the closure of childcare services. This study was designed to evaluate the impact of the COVID-19 lockdown in March-April 2020 on children, adolescents, and young adults with Prader-Willi syndrome (PWS) living in Germany. We recruited 180 participants with a genetically confirmed PWS. All families completed a questionnaire, and participants underwent a post-lockdown assessment; the last examination before the lockdown was determined as the pre-lockdown assessment. We used bivariate analyses to compare pre- and post-lockdown outcomes. Weight standard deviation scores (SDSPWS) and body mass index (BMI)-SDSPWS remained stable or even decreased in some age groups. A statistically significant gain in lean body mass (LBM) was found in all groups <18 years of age. We observed an increase in IGF-I and IGFBP-3 concentrations without a significant change in growth hormone (GH) dosage. Most families (95.4%) reported set mealtimes and implementation of structured activities (72.2%) during the lockdown period. We therefore suggest that the favorable development of weight/BMI and LBM was caused by an interplay of a suspected enhanced GH administration and continuous parental commitment. However, more intense behavioral problems were observed in 45.7%, which persisted post-lockdown in 33.7%.

Hyponatremia in Children and Adults with Prader-Willi Syndrome: A Survey Involving Seven Countries.

In Prader-Willi syndrome (PWS), conditions that are associated with hyponatremia are common, such as excessive fluid intake (EFI), desmopressin use and syndrome of inappropriate antidiuretic hormone (SIADH) caused by psychotropic medication. However, the prevalence of hyponatremia in PWS has rarely been reported. Our aim was to describe the prevalence and severity of hyponatremia in PWS. In October 2020, we performed a retrospective study based on the medical records of a large cohort of children and adults with PWS from seven countries. Among 1326 patients (68% adults), 34 (2.6%) had at least one episode of mild or moderate hyponatremia (125 ≤ Na < 135 mmol/L). The causes of non-severe hyponatremia were often multi-factorial, including psychotropic medication in 32%, EFI in 24% and hyperglycemia in 12%. No obvious cause was found in 29%. Seven (0.5%) adults experienced severe hyponatremia (Na < 125 mmol/L). Among these, five recovered completely, but two died. The causes of severe hyponatremia were desmopressin treatment for nocturnal enuresis (n = 2), EFI (n = 2), adrenal insufficiency (n = 1), diuretic treatment (n = 1) and unknown (n = 1). In conclusion, severe hyponatremia was very rare but potentially fatal in PWS. Desmopressin treatment for nocturnal enuresis should be avoided. Enquiring about EFI and monitoring serum sodium should be included in the routine follow-ups of patients with PWS.

Paradoxical low severity of COVID-19 in Prader-Willi syndrome: data from a French survey on 647 patients.

BACKGROUND: Patients with Prader-Willi syndrome (PWS) often have comorbidities, especially obesity, that may constitute a risk factor for severe forms of COVID-19. We aimed to assess prevalence and medical course of SARS-CoV-2 infection in children and adults with PWS. From November 2020 to January 2021, we performed a detailed medical survey on 342 adults and 305 children with PWS followed in the French reference center. RESULTS: We obtained responses from 288 adults (84%) and 239 children (78%). From March 2020 to January 2021, 38 adults (13.2%) and 13 children (5.4%) with PWS had SARS-CoV-2 infection. Mean age of adults was 34.1 ± 11.9 years and mean body mass index was 40.6 ± 12.7 kg/m2; 82% had obesity and 37% had diabetes. Only 3 children (23%) had obesity and none had diabetes. Similar to the general population, the most frequent symptoms of COVID-19 were asthenia, fever, cough, headache and shortness of breath. All patients had a favorable outcome. CONCLUSION: PWS itself is not a risk factor for severe COVID-19 in children and adults. On the contrary, evolution of SARS-CoV-2 infection in adults with PWS seems more favorable than expected, given their comorbidities.

Effects of the COVID-19 pandemic and lockdown on the mental and physical health of adults with Prader-Willi syndrome.

BACKGROUND: Prader-Willi syndrome (PWS) is a neurodevelopmental disorder with hypothalamic dysfunction leading to obesity and behavioral disabilities, including eating disorders (EDs). We evaluated the effects of the COVID-19 infection and lockdown on mental and physical health in PWS. At the end of April, 85 adults with PWS completed a self-administered questionnaire, including lockdown conditions, physical activity (PA), ED, and medical and behavioral outcomes. Body weight was measured at home and self-reported. RESULTS: Patients (52.9% women, 44.8% disomic) were assessed, with a mean age of 28.05 ± 8.73 years and body mass index (BMI) of 36.76 ± 10.74 kg/m2. Seventy percent lived in the Paris region (France) and were confined with their parents. The mean weight change was 0.96 ± 3.28 kg. We compared patients showing weight loss (n = 39, - 3.30 ± 2.93 kg) to patients showing weight gain (n = 22, + 2.35 ± 1.54 kg): the BMI was lower (34.60 ± 9.18 versus 40.45 ± 9.45 kg/m2, p = 0.02), PA increased (25.6% versus 4.5%, p = 0.04), and EDs improved (51.3% versus 13.6%, p = 0.005). Behavioral disorders increased for 12.9% of the cohort. Three individuals (3.5%) were diagnosed with non-severe COVID-19. CONCLUSION: Lockdown during the COVID-19 pandemic was associated with positive effects for most French adults with PWS, with weight loss probably associated with a more favourable environment during this period. We observed no severe forms of COVID-19.

Behavioural change in Prader-Willi syndrome during COVID-19 pandemic.

BACKGROUND: Prader-Willi syndrome (PWS) is a rare genetic disorder that in many cases is associated with mental health disorders, in addition to characteristic symptoms such as hyperphagia. The current Sars-CoV-2 coronavirus pandemic has led to massive restrictions in health care and social life worldwide. People with PWS represent a particularly vulnerable population group to these restrictions, with unknown impact on their mental health. METHODS: We conducted an online questionnaire to assess the impact of the restrictions associated with the COVID-19 pandemic on the mental health of people with PWS. RESULTS: One hundred and eight caregivers completed the survey about individuals with PWS. Individuals with PWS > 6 years (n = 89) were included for evaluation with regard to psychopathological change. Respondents frequently reported an increase in psychopathological symptoms associated with PWS during the lockdown, with 51.7% reporting increased temper outbursts, 43.8% showing signs of sadness, 38.2% being anxious, 55.0% more irritable, and 39.3% showing more food seeking behaviour. Adjusted for the type of accommodation food seeking behaviour and irritability is increased to a significantly lesser extent in people with PWS accommodated in specialised care facilities compared with those living in their family home. No significant difference could be found between the sexes. CONCLUSION: The COVID-19 pandemic has had a significant effect on the mental health of individuals with PWS, evidenced by an increase in behaviours associated with PWS, including temper outbursts, food-seeking, and irritability, which again underlines their need for specialised care. Individuals living with their families were particularly vulnerable, indicating that they and their families are in special need of support.