Characteristics and relationship between hyperphagia, anxiety, behavioral challenges and caregiver burden in Prader-Willi syndrome

Objectives Prader-Willi syndrome (PWS) is a rare genetic disorder characterized by maladaptive behaviors, amongst which hyperphagia is a life-long concern for individuals with PWS and their caregivers. The current study examined the contribution of hyperphagia and other factors to caregiver burden across lifespan, in 204 caregivers of individuals with PWS living in the US, using the Zarit Burden Interview (ZBI) and the hyperphagia questionnaire (HQ-CT). Results We found a strong relationship between ZBI and HQ-CT especially in individuals with PWS older than 4 y and showed that HQ-CT scores of individuals with PWS is positively correlated with ZBI scores of their caregivers. The weight status of individuals with PWS was not associated with HQ-CT and ZBI scores, except for obese individuals who had significantly higher HQ-CT scores when compared to normal weight PWS individuals. We looked at PWS symptoms and care-related issues that impacted individuals and caregivers the most. We found that care-related tasks had the biggest negative impact on caregivers of children aged 0–4 y, whereas anxiety, temper tantrums, and oppositional behaviors of older individuals with PWS had the biggest impact on their caregivers concomitant with their high caregiver burden. Finally, we assessed the variability of HQ-CT and ZBI over 6 months in a subgroup of 83 participants. Overall, neither measure differed between 6 months and baseline. Most individual’s absolute HQ-CT score changes were between 0–2 units, whereas absolute ZBI score changes were between 0–6 points. Changes in the caregiver’s or individual’s life had little or no effect on HQ-CT and ZBI scores. Conclusions This study demonstrates a relationship between hyperphagia and caregiver burden and sheds light on predominant symptoms in children and adolescents that likely underly PWS caregiver burden. The stability and relationship between HQ-CT and ZBI support ZBI as an additional outcome measure in PWS clinical trials.

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Specific Dietary Components and Gut Microbiota Composition are Associated with Obesity in Children and Adolescents with Prader–Willi Syndrome

Nutrients ◽

10.3390/nu12041063 ◽

2020 ◽

Vol 12 (4) ◽

pp. 1063 ◽

Cited By ~ 2

Author(s):

Sonika Garcia-Ribera ◽

Montse Amat-Bou ◽

Eric Climent ◽

Marina Llobet ◽

Empar Chenoll ◽

...

Keyword(s):

Gut Microbiota ◽

Children And Adolescents ◽

Weight Status ◽

Genetic Disorder ◽

Standard Deviation Score ◽

Genetic Diagnosis ◽

Normal Weight ◽

Prader Willi Syndrome ◽

Microbiota Composition ◽

16S Sequencing

Prader–Willi syndrome is a rare genetic disorder associated with impaired body composition, hyperphagia, and excessive weight gain. Strict dietary restrictions from an early age is crucial to prevent or delay the early onset of obesity, which is the main driver of comorbidities in these patients. The aim of this study was to identify dietary and gut microbiota components closely linked to weight status of these patients. We studied a cohort of children and adolescents with genetic diagnosis of Prader–Willi syndrome (N = 31), in which we determined adiposity by Dual-energy X-ray absorptiometry (DXA) and dietary composition with 4-day food records. Furthermore, we obtained fecal samples to assess microbiota composition by 16S sequencing. Multivariate regression models showed that body mass index standard deviation score (BMI-SDS) and body fat mass were directly associated with saturated fat intake and meat consumption, and inversely associated with fruit consumption. Furthermore, the gut microbiome from normal weight patients was characterized by higher phylogenetic diversity compared to those overweight or obese, with differential abundance of several genera, including Alistipes, Klebsiella, and Murimonas. Notably, Alistipes abundance was inversely correlated to adiposity, lipid and glucose homeostasis parameters, and meat intake. Our results suggest that limiting meat and increasing fruit intake might be beneficial for body weight management in children and adolescents with Prader–Willi syndrome.

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Behavioral features in Prader-Willi syndrome (PWS): consensus paper from the International PWS Clinical Trial Consortium

Journal of Neurodevelopmental Disorders ◽

10.1186/s11689-021-09373-2 ◽

2021 ◽

Vol 13 (1) ◽

Author(s):

Lauren Schwartz ◽

Assumpta Caixàs ◽

Anastasia Dimitropoulos ◽

Elisabeth Dykens ◽

Jessica Duis ◽

...

Keyword(s):

Clinical Trials ◽

Genetic Disorder ◽

Assessment Tools ◽

Limiting Factor ◽

Prader Willi Syndrome ◽

Obsessive Compulsive ◽

Behavioral Challenges ◽

Behavioral Features ◽

Compulsive Behaviors ◽

Temper Outbursts

AbstractPrader-Willi syndrome (PWS) is a rare neurodevelopmental genetic disorder associated with a characteristic behavioral phenotype that includes severe hyperphagia and a variety of other behavioral challenges such as temper outbursts and anxiety. These behaviors have a significant and dramatic impact on the daily functioning and quality of life for the person with PWS and their families. To date, effective therapies addressing these behavioral challenges have proven elusive, but several potential treatments are on the horizon. However, a limiting factor for treatment studies in PWS is the lack of consensus in the field regarding how to best define and measure the complex and interrelated behavioral features of this syndrome. The International PWS Clinical Trials Consortium (PWS-CTC, www.pwsctc.org) includes expert PWS scientists, clinicians, and patient advocacy organization representatives focused on facilitating clinical trials in this rare disease. To address the above gap in the field, members of the PWS-CTC “Behavior Outcomes Working Group” sought to develop a unified understanding of the key behavioral features in PWS and build a consensus regarding their definition and description. The primary focus of this paper is to present consensus definitions and descriptions of key phenotypic PWS behaviors including hyperphagia, temper outbursts, anxiety, obsessive–compulsive behaviors, rigidity, and social cognition deficits. Patient vignettes are provided to illustrate the interrelatedness and impact of these behaviors. We also review some available assessment tools as well as new instruments in development which may be useful in measuring these behavioral features in PWS.

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Interrelationship Between Age, Gender, and Weight Status on Motor Coordination in Italian Children and Early Adolescents Aged 6–13 Years Old

Frontiers in Pediatrics ◽

10.3389/fped.2021.738294 ◽

2021 ◽

Vol 9 ◽

Author(s):

Giuseppe Battaglia ◽

Valerio Giustino ◽

Garden Tabacchi ◽

Massimo Lanza ◽

Federico Schena ◽

...

Keyword(s):

Weight Status ◽

Motor Coordination ◽

Negative Impact ◽

Age Groups ◽

Cross Sectional Study ◽

Normal Weight ◽

School Students ◽

Cross Sectional ◽

Age And Gender ◽

And Gender

Although numerous evidences reported a negative correlation between motor coordination (MC) and overweight/obesity in children and adolescents, the interrelationship between age, gender, and weight status is still debatable. Hence, the aim of this cross-sectional study was to examine the association between MC and weight status according to age and gender across childhood and early adolescence in a large sample of Italian elementary and middle school students. A number of 1961 Italian school students (1,026 boys, 935 girls) was stratified in three consecutive age groups (6–7, 8–10, and 11–13 years) and four weight status categories (underweight, normal weight, overweight, and obese) according to Cole's body mass index (BMI) cut-off points for children. MC performance was assessed measuring motor quotient (MQ) with the Körperkoordinationstest für Kinder (KTK). Results showed significantly lower MQ levels in children in overweight (OW) and with obesity (OB) in both sexes for all age groups than peers in normal weight (NW), except in 6–7-year-old boys. Girls in OW and with OB had similar MQ levels across all age groups, while younger boys in OW and with OB showed higher MQ levels than older ones (p < 0.05). The 6–7-year-old boys showed better MQ levels than girls peers in NW, OW, and with OB, while 8–10-year-old boys in underweight (UW), NW, and OW; and 11–13-year-old boys only in NW (p < 0.05). No interaction effect was found between age, gender, and weight status on MQ levels. These outcomes showed the negative impact of higher weight status on MC performance according to age and gender, pointing out the importance of planning targeted motor programs that consider these variables to improve MC performance.

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Gastrointestinal Problems in Overweight and Obese Individuals with Prader-Willi Syndrome (P21-033-19)

Current Developments in Nutrition ◽

10.1093/cdn/nzz041.p21-033-19 ◽

2019 ◽

Vol 3 (Supplement_1) ◽

Author(s):

Zainab Alyousif ◽

Wendy Dahl ◽

Jennifer Miller

Keyword(s):

Weight Status ◽

Acid Reflux ◽

Normal Weight ◽

Overweight And Obesity ◽

Energy Restriction ◽

Prader Willi Syndrome ◽

Cross Sectional ◽

Stomach Pain ◽

Gi Symptoms ◽

Gastrointestinal Problems

Abstract Objectives Individuals affected by Prader-Willi Syndrome (PWS) exhibit altered body composition, depressed metabolic rate and hyperphagia, leading to morbid obesity if not managed by life-long energy restriction. The extent of gastrointestinal problems in this population has been less studied. The aim of this cross-sectional study was to assess the prevalence of gastrointestinal (GI) symptoms, GI-related hospitalizations and surgeries, use of GI-related medications, and their associations to weight status in a cohort of individuals affected by PWS. Methods Data on height, weight, age, GI symptoms, GI-related hospitalizations and surgeries, and use of GI medications in an international cohort of individuals affected by PWS (n = 764) was collected from patients and caregivers through a PWS research website. Associations among age, weight, and GI outcomes were evaluated. Results As expected, overweight and obesity increased with age (P < 0.0001). Constipation (P < 0.05), diarrhea (P < 0.01), and stomach pain (P < 0.05) increased with BMI, whereas acid reflux decreased with BMI (P < 0.01). Diarrhea and stomach pain were higher in overweight and obese individuals compared to those of normal weight (P < 0.05). Acid reflux was lower in overweight and obese patients (P < 0.01). GI-related hospitalizations were not related to weight status. GI surgeries significantly decreased with patients’ weight (P < 0.05), higher in normal weight individuals compared to those overweight or obese (P < 0.05). The reported use of GI medications increased with body weight (P < 0.0001) and thus, was higher in overweight and obese individuals (P < 0.01). Conclusions The cross-sectional data suggest that weight status of individuals affected by PWS may impact GI symptoms, GI-related surgeries, and the use of GI-related medications, but not GI-related hospitalizations. Funding Sources Kingdom of Saudi Arabia Doctoral Scholarship.

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Emotional Eating in Adolescence: Effects of Emotion Regulation, Weight Status and Negative Body Image

Nutrients ◽

10.3390/nu13010079 ◽

2020 ◽

Vol 13 (1) ◽

pp. 79

Author(s):

Lenka H. Shriver ◽

Jessica M. Dollar ◽

Susan D. Calkins ◽

Susan P. Keane ◽

Lilly Shanahan ◽

...

Keyword(s):

Body Image ◽

Emotion Regulation ◽

Emotional Regulation ◽

Emotional Eating ◽

Weight Status ◽

Normal Weight ◽

Linear Regression Models ◽

Obesity Risk ◽

Negative Body Image ◽

Increased Risk

Emotional eating is associated with an increased risk of binge eating, eating in the absence of hunger and obesity risk. While previous studies with children and adolescents suggest that emotion regulation may be a key predictor of this dysregulated eating behavior, little is known about what other factors may be influencing the link between emotional regulation and emotional eating in adolescence. This multi-method longitudinal study (n = 138) utilized linear regression models to examine associations between childhood emotion regulation, adolescent weight status and negative body image, and emotional eating at age 17. Emotion regulation predicted adolescent emotional eating and this link was moderated by weight status (β = 1.19, p < 0.01) and negative body image (β = −0.34, p < 0.01). Higher engagement in emotional eating was predicted by lower emotional regulation scores among normal-weight teens (β = −0.46, p < 0.001) but not among overweight/obese teens (β = 0.32, p > 0.10). Higher scores on emotion regulation were significantly associated with lower emotional eating at high (β = −1.59, p < 0.001) and low (β = −1.00, p < 0.01) levels of negative body image. Engagement in emotional eating was predicted by higher negative body image among overweight/obese teens only (β = 0.70, p < 0.001). Our findings show that while better childhood emotion regulation skills are associated with lower emotional eating, weight status and negative body image influence this link and should be considered as important foci in future interventions that aim to reduce emotional eating in adolescence.

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Delayed Romantic Experience: Association of Romantic Relationship and Weight Change Patterns over 7 Years among Taiwanese Adolescents

Youth & Society ◽

10.1177/0044118x211023517 ◽

2021 ◽

pp. 0044118X2110235

Author(s):

Jih-Cheng Yeh ◽

Duan-Rung Chen

Keyword(s):

High School Students ◽

Interpersonal Relationships ◽

Junior High School ◽

Weight Change ◽

Romantic Relationship ◽

Weight Status ◽

Normal Weight ◽

School Students ◽

Student Sample ◽

Weight Change Pattern

Stigmatization of overweight and obese individuals is common in interpersonal relationships. This study investigated longitudinal weight change patterns among Taiwanese adolescents and the relationship of weight change patterns with delayed romantic experience from late adolescence to young adulthood by using a representative panel survey. Individuals were divided into six weight change pattern categories according to changes in their body mass index. Two-stage stratified and clustered sampling was used to obtain a representative student sample, and 1,834 junior high school students were followed up over 7 years. Persistent obesity and a change from an underweight to a normal weight status over 7 years were independently associated with delayed romantic experience in both sexes. Moreover, females but not males who changed from an underweight or normal weight status to an overweight or obese status had increased odds of delayed romantic experience. Persistent obesity should be addressed early in life because it plays a crucial role in delayed romantic experience.

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Discordance between Body-Mass Index and Body Adiposity Index in the Classification of Weight Status of Elderly Patients with Stable Coronary Artery Disease

Journal of Clinical Medicine ◽

10.3390/jcm10050943 ◽

2021 ◽

Vol 10 (5) ◽

pp. 943

Author(s):

Bartosz Hudzik ◽

Justyna Nowak ◽

Janusz Szkodzinski ◽

Aleksander Danikiewicz ◽

Ilona Korzonek-Szlacheta ◽

...

Keyword(s):

Coronary Artery Disease ◽

Body Mass Index ◽

Coronary Artery ◽

Weight Status ◽

Stable Coronary Artery Disease ◽

Reference Method ◽

Normal Weight ◽

Body Adiposity ◽

Artery Disease

Background and Aims: Body-mass index (BMI) is a popular method implemented to define weight status. However, describing obesity by BMI may result in inaccurate assessment of adiposity. The Body Adiposity Index (BAI) is intended to be a directly validated method of estimating body fat percentage. We set out to compare body weight status assessment by BMI and BAI in a cohort of elderly patients with stable coronary artery disease (CAD). Methods: A total of 169 patients with stable CAD were enrolled in an out-patient cardiology clinic. The National Research Council (US) Committee on Diet and Health classification was used for individuals older than 65 years as underweight BMI < 24 kg/m2, normal weight BMI 24–29 kg/m2, overweight BMI 29–35 kg/m2, and obesity BMI > 35 kg/m2. In case of BAI, we used sex- and age-specific classification of weight status. In addition, body fat was estimated by bioelectrical impedance analysis (BImpA). Results: Only 72 out of 169 patients (42.6%) had concordant classification of weight status by both BMI and BAI. The majority of the patients had their weight status either underestimated or overestimated. There were strong positive correlations between BMI and BImpA (FAT%) (R = 0.78 p < 0.001); BAI and BImpA (FAT%) (R = 0.79 p < 0.001); and BMI and BAI (R = 0.67 p < 0.001). BMI tended to overestimate the rate of underweight, normal weight or overweight, meanwhile underestimating the rate of obesity. Third, BMI exhibited an average positive bias of 14.4% compared to the reference method (BImpA), whereas BAI exhibited an average negative bias of −8.3% compared to the reference method (BImpA). Multivariate logistic regression identified independent predictors of discordance in assessing weight status by BMI and BAI: BImpA (FAT%) odds ratio (OR) 1.29, total body water (%) OR 1.61, fat mass index OR 2.62, and Controlling Nutritional Status (CONUT) score OR 1.25. Conclusions: There is substantial rate of misclassification of weight status between BMI and BAI. These findings have significant implications for clinical practice as the boundary between health and disease in malnutrition is crucial to accurately define criteria for intervention. Perhaps BMI cut-offs for classifying weight status in the elderly should be revisited.

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Is overweight/obesity a risk factor for atopic allergic disease in prepubertal children? A case–control study

Journal of Pediatric Endocrinology and Metabolism ◽

10.1515/jpem-2021-0051 ◽

2021 ◽

Vol 0 (0) ◽

Author(s):

Aysel Vehapoglu ◽

Zeynep Ebru Cakın ◽

Feyza Ustabas Kahraman ◽

Mustafa Atilla Nursoy ◽

Ali Toprak

Keyword(s):

Body Weight ◽

Allergic Disease ◽

Weight Status ◽

Normal Weight ◽

Overweight And Obesity ◽

University Hospital ◽

Healthy Children ◽

Prepubertal Children ◽

Body Weight Status ◽

Increased Risk

Abstract Objectives It is unclear whether body weight status (underweight/normal weight/overweight/obese) is associated with allergic disease. Our objective was to investigate the relationship between body weight status (body mass index; BMI) and atopic allergic disease in prepubertal children, and to compare children with atopic allergic diseases with non atopic healthy children. Methods A prospective cross sectional study of 707 prepubertal children aged 3–10 years was performed; the participants were 278 atopic children with physician-diagnosed allergic disease (allergic rhinitis and asthma) (serum total IgE level >100 kU/l and eosinophilia >4%, or positivity to at least one allergen in skin test) and 429 non atopic healthy age- and sex-matched controls. Data were collected between December 2019 and November 2020 at the Pediatric General and Pediatric Allergy Outpatient Clinics of Bezmialem Vakıf University Hospital. Results Underweight was observed in 11.6% of all participants (10.8% of atopic children, 12.2% of healthy controls), and obesity in 14.9% of all participants (18.0% of atopic children, 12.8% of controls). Obese (OR 1.71; 95% CI: 1.08–2.71, p=0.021), and overweight status (OR 1.62; 95% CI: 1.06–2.50, p=0.026) were associated with an increased risk of atopic allergic disease compared to normal weight in pre-pubertal children. This association did not differ by gender. There was no relationship between underweight status and atopic allergic disease (OR 1.03; 95% CI: 0.63–1.68, p=0.894). Conclusions Overweight and obesity were associated with an increased risk of atopic allergic disease compared to normal weight among middle-income and high-income pre pubertal children living in Istanbul.

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Endocrine Dysfunction in Prader-Willi Syndrome: A Review with Special Reference to GH

Endocrine Reviews ◽

10.1210/edrv.22.6.0447 ◽

2001 ◽

Vol 22 (6) ◽

pp. 787-799 ◽

Cited By ~ 167

Author(s):

Pia Burman ◽

E. Martin Ritzén ◽

Ann Christin Lindgren

Keyword(s):

Replacement Therapy ◽

Lean Body Mass ◽

Body Mass ◽

Genetic Disorder ◽

Hormone Replacement ◽

Hypogonadotropic Hypogonadism ◽

Endocrine Disorders ◽

Prader Willi Syndrome ◽

Gh Treatment ◽

Pituitary Dysfunction

Abstract Prader-Willi syndrome is a genetic disorder occurring in 1 in 10,000–16,000 live-born infants. In the general population, approximately 60 people in every 1,000,000 are affected. The condition is characterized by short stature, low lean body mass, muscular hypotonia, mental retardation, behavioral abnormalities, dysmorphic features, and excessive appetite with progressive obesity. Furthermore, morbidity and mortality are high, probably as a result of gross obesity. Most patients have reduced GH secretory capacity and hypogonadotropic hypogonadism, suggesting hypothalamic-pituitary dysfunction. Replacement of GH and/or sex hormones may therefore be beneficial in Prader-Willi syndrome, and several clinical trials have now evaluated GH replacement therapy in affected children. Results of GH treatment have been encouraging: improved growth, increased lean body mass, and reduced fat mass. There was also some evidence of improvements in respiratory function and physical activity. The long-term benefits of GH treatment are, however, still to be established. Similarly, the role of sex hormone replacement therapy needs to be clarified as few data exist on its efficacy and potential benefits. In summary, Prader-Willi syndrome is a disabling condition associated with GH deficiency and hypogonadism. More active treatment of these endocrine disorders is likely to benefit affected individuals.

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Associations of the pre-pregnancy weight status with anemia and the erythropoiesis-related micronutrient status

Public Health Nutrition ◽

10.1017/s1368980021002627 ◽

2021 ◽

pp. 1-31

Author(s):

Noor Rohmah Mayasari ◽

Tzu-Yu Hu ◽

Jane C-J Chao ◽

Chyi-Huey Bai ◽

Yi Chun Chen ◽

...

Keyword(s):

Pregnant Women ◽

Weight Status ◽

Vitamin B12 Deficiency ◽

Population Level ◽

Normal Weight ◽

Nutritional Deficiencies ◽

Deficiency Anemia ◽

Dietary Analysis ◽

Dietary Recall ◽

Pregnancy Weight

Abstract Objective: The coexistence of underweight (UW) and overweight (OW)/obese (OB) at the population level is known to affect iron-deficiency anemia (IDA), but how the weight status affects erythropoiesis during pregnancy is less clear at a population scale. This study investigated associations between the pre-pregnancy body mass index (pBMI) and erythropoiesis-related nutritional deficiencies. Design: Anthropometry, blood biochemistry, and 24-h dietary recall data were collected during prenatal care visits. The weight status was defined based on the pBMI. Mild nutrition deficiency-related erythropoiesis was defined if individuals had an ID, folate depletion, or a vitamin B12 deficiency. Setting: The Nationwide Nutrition and Health Survey in Taiwan (Pregnant NAHSIT 2017-2019). Participants: We included 1456 women aged 20 to 45 years with singleton pregnancies. Results: Among these pregnant women, 9.6% were UW, and 29.2% were either OW (15.8%) or OB (13.4%). A U-shaped association between the pBMI and IDA was observed, with decreased odds (OR; 95% CI) for OW subjects (0.6; 0.4˜0.9) but increased odds for UW (1.2; 0.8˜2.0) and OB subjects (1.2; 0.8˜1.8). The pBMI was positively correlated with the prevalence of a mild nutritional deficiency. Compared to normal weight (NW), OB pregnant women had 3.4-fold (3.4; 1.4˜8.1) higher odds for multiple mild nutritional deficiencies, while UW individuals had lowest odds (0.3; 0.1-1.2). A dietary analysis showed negative relationships of pBMI with energy, carbohydrates, protein, iron, and folate intakes, but positive relationship with fat intakes. Conclusion: The pre-pregnancy weight status can possibly serve as a good nutritional screening tool for preventing IDA during pregnancy.

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