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Prader-Willi Syndrome
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Prader-Willi Syndrome

A special issue of Diseases (ISSN 2079-9721). This special issue belongs to the section "Rare Syndrome".

Deadline for manuscript submissions: closed (30 November 2015) | Viewed by 96438

Special Issue Editor

Dr. Danny Camfferman

E-Mail Website
Guest Editor
Samson Institute, School of Health Sciences, University of South Australia, Adelaide, South Australia, Australia
Interests: neurocognition; sleep; EEG and event related potential methodologies; cortical activation associated with pain perception and touch

Special Issue Information

Dear colleagues,

Prader-Willi syndrome (PWS), first described by Prader, Labhardt and Willi in 1956, is a congenital disorder in which various configurations of seven genes on chromosome 15 (q 11–13) are deleted or unexpressed (chromosome 15q partial deletion) on the paternal chromosome. The syndrome is commonly characterized by muscular hypotonia, short stature, obesity, small hands and feet, hypogonadism, excessive daytime sleepiness and neurocognitive deficits. In females, there is delayed or absent development of pubertal changes. The affected persons are notable for having an insatiable hunger and often there are associated behavioral problems related to food and overeating. Subsequently, there is a tendency in this group toward life-threatening obesity. It is a relatively common congenital disorder with an incidence between 1 in 10,000 to 1 in 25,000 live births.

Early diagnosis of PWS allows for early intervention, usually through daily recombinant growth hormone injections which supports linear growth and increased muscle mass. The tendency of this patient group toward severe obesity is also a contributory factor in their high incidence of obstructive sleep apnoea, and the use of continuous positive airway pressure is common. Surgical procedures are not usually warranted, though gastric banding has been used as a weight reduction strategy; however, this approach has been generally unsuccessful in PWS due to a combination of higher pain thresholds and continued overeating. More recent studies have posed the possibility that stem cell research may be beneficial towards understanding the genetic basis of the many expressions of PWS, and moreover, possible treatment approaches.

This Special Issue provides an Open Access opportunity to publish research work and review articles related to Prader-Willi syndrome, with the aim of distributing recent advances in our knowledge of this disorder.

Dr. Danny Camfferman
Guest Editor

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Keywords

  • prader-Willi syndrome
  • neurocognition
  • chromosome 15q11-q13
  • obesity
  • excessive daytime sleepiness and hyperphagia

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Published Papers (10 papers)

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Research

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196 KiB  
Article
The Developmental Trajectory of Self-Injurious Behaviours in Individuals with Prader Willi Syndrome, Autism Spectrum Disorder and Intellectual Disability
by Lauren J. Rice, Kylie M. Gray, Patricia Howlin, John Taffe, Bruce J. Tonge and Stewart L. Einfeld
Diseases 2016, 4(1), 9; https://doi.org/10.3390/diseases4010009 - 6 Feb 2016
Cited by 12 | Viewed by 6115
Abstract
In the present study we examined the nature and developmental trajectory of self-injurious behaviour in Prader Willi syndrome (PWS) and autism spectrum disorder (ASD). The development of interventions is greatly aided by understanding gene to behaviour pathways, and this requires an accurate description [...] Read more.
In the present study we examined the nature and developmental trajectory of self-injurious behaviour in Prader Willi syndrome (PWS) and autism spectrum disorder (ASD). The development of interventions is greatly aided by understanding gene to behaviour pathways, and this requires an accurate description of the behaviour phenotype, that is, which types and natural history of self-injurious behaviour are more common in PWS and ASD and which are shared with other forms of developmental disability. Self-injury displayed by individuals with PWS and individuals with ASD was compared with that reported in a group of individuals with intellectual disability due to mixed aetiology (ID group). Three self-injurious behaviours (head banging, skin-picking and hitting and/or biting self) were measured on five occasions over 18 years using the Developmental Behaviour Checklist (DBC) a well-validated caregiver report measure. Rates of skin picking were higher in individuals with PWS and hitting and/or biting self was higher in individuals with ASD compared to the ID group. Rates of head banging were similar across the three groups. Over time, skin-picking and head banging increased with age for individuals with ASD and hitting and/or biting self increased for the PWS group. In the PWS and mixed ID groups head banging decreased with age. These findings suggest that the typology and developmental trajectories of self-injurious behaviours differ between those with PWS and ASD. Full article
(This article belongs to the Special Issue Prader-Willi Syndrome)
421 KiB  
Article
Obesity and Prader-Willi Syndrome Affect Heart Rate Recovery from Dynamic Resistance Exercise in Youth
by Diobel M. Castner, Susan J. Clark, Daniel A. Judelson and Daniela A. Rubin
Diseases 2016, 4(1), 4; https://doi.org/10.3390/diseases4010004 - 15 Jan 2016
Cited by 4 | Viewed by 6842
Abstract
Following exercise, heart rate decline is initially driven by parasympathetic reactivation and later by sympathetic withdrawal. Obesity delays endurance exercise heart rate recovery (HRR) in both children and adults. Young people with Prader-Willi Syndrome (PWS), a congenital cause for obesity, have shown a [...] Read more.
Following exercise, heart rate decline is initially driven by parasympathetic reactivation and later by sympathetic withdrawal. Obesity delays endurance exercise heart rate recovery (HRR) in both children and adults. Young people with Prader-Willi Syndrome (PWS), a congenital cause for obesity, have shown a slower 60-s endurance exercise HRR compared to lean and obese children, suggesting compromised regulation. This study further evaluated effects of obesity and PWS on resistance exercise HRR at 30 and 60 s in children. PWS (8–18 years) and lean and obese controls (8–11 years) completed a weighted step-up protocol (six sets x 10 reps per leg, separated by one-minute rest), standardized using participant stature and lean body mass. HRR was evaluated by calculated HRR value (HRRV = difference between HR at test termination and 30 (HRRV30) and 60 (HRRV60) s post-exercise). PWS and obese had a smaller HRRV30 than lean (p < 0.01 for both). Additionally, PWS had a smaller HRRV60 than lean and obese (p = 0.01 for both). Obesity appears to delay early parasympathetic reactivation, which occurs within 30 s following resistance exercise. However, the continued HRR delay at 60 s in PWS may be explained by either blunted parasympathetic nervous system reactivation, delayed sympathetic withdrawal and/or poor cardiovascular fitness. Full article
(This article belongs to the Special Issue Prader-Willi Syndrome)
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Review

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224 KiB  
Review
Disorders of Sleep and Ventilatory Control in Prader-Willi Syndrome
by Emily S. Gillett and Iris A. Perez
Diseases 2016, 4(3), 23; https://doi.org/10.3390/diseases4030023 - 8 Jul 2016
Cited by 39 | Viewed by 6392
Abstract
Prader-Willi syndrome (PWS) is an imprinted genetic disorder conferred by loss of paternal gene expression from chromosome 15q11.2-q13. Individuals with PWS have impairments in ventilatory control and are predisposed toward sleep disordered breathing due to a combination of characteristic craniofacial features, obesity, hypotonia, [...] Read more.
Prader-Willi syndrome (PWS) is an imprinted genetic disorder conferred by loss of paternal gene expression from chromosome 15q11.2-q13. Individuals with PWS have impairments in ventilatory control and are predisposed toward sleep disordered breathing due to a combination of characteristic craniofacial features, obesity, hypotonia, and hypothalamic dysfunction. Children with PWS progress from failure to thrive during infancy to hyperphagia and morbid obesity during later childhood and onward. Similarly, the phenotype of sleep disordered breathing in PWS patients also evolves over time from predominantly central sleep apnea in infants to obstructive sleep apnea (OSA) in older children. Behavioral difficulties are common and may make establishing effective therapy with continuous positive airway pressure (CPAP) more challenging when OSA persists after adenotonsillectomy. Excessive daytime sleepiness (EDS) is also common in patients with PWS and may continue after OSA is effectively treated. We describe here the characteristic ventilatory control deficits, sleep disordered breathing, and excessive daytime sleepiness seen in individuals with PWS. We review respiratory issues that may contribute to sudden death events in PWS patients during sleep and wakefulness. We also discuss therapeutic options for treating sleep disordered breathing including adenotonsillectomy, weight loss, and CPAP. Lastly, we discuss the benefits and safety considerations related to growth hormone therapy. Full article
(This article belongs to the Special Issue Prader-Willi Syndrome)
1125 KiB  
Review
Prader-Willi Syndrome: The Disease that Opened up Epigenomic-Based Preemptive Medicine
by Takeo Kubota, Kunio Miyake, Natsuyo Hariya, Vuong Tran Nguyen Quoc and Kazuki Mochizuki
Diseases 2016, 4(1), 15; https://doi.org/10.3390/diseases4010015 - 11 Mar 2016
Cited by 3 | Viewed by 20193
Abstract
Prader-Willi syndrome (PWS) is a congenital neurodevelopmental disorder caused by loss of function of paternally expressed genes on chromosome 15 due to paternal deletion of 15q11–q13, maternal uniparental disomy for chromosome 15, or an imprinting mutation. We previously developed a DNA methylation-based PCR [...] Read more.
Prader-Willi syndrome (PWS) is a congenital neurodevelopmental disorder caused by loss of function of paternally expressed genes on chromosome 15 due to paternal deletion of 15q11–q13, maternal uniparental disomy for chromosome 15, or an imprinting mutation. We previously developed a DNA methylation-based PCR assay to identify each of these three genetic causes of PWS. The assay enables straightforward and rapid diagnosis during infancy and therefore allows early intervention such as nutritional management, physical therapy, or growth hormone treatment to prevent PWS patients from complications such as obesity and type 2 diabetes. It is known that various environmental factors induce epigenomic changes during the perinatal period, which increase the risk of adult diseases such as type 2 diabetes and intellectual disabilities. Therefore, a similar preemptive approach as used in PWS would also be applicable to acquired disorders and would make use of environmentally-introduced “epigenomic signatures” to aid development of early intervention strategies that take advantage of “epigenomic reversibility”. Full article
(This article belongs to the Special Issue Prader-Willi Syndrome)
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1043 KiB  
Review
Zebrafish Models of Prader-Willi Syndrome: Fast Track to Pharmacotherapeutics
by Emma D. Spikol, Caroline E. Laverriere, Maya Robnett, Gabriela Carter, Erin Wolfe and Eric Glasgow
Diseases 2016, 4(1), 13; https://doi.org/10.3390/diseases4010013 - 8 Mar 2016
Cited by 8 | Viewed by 6843
Abstract
Prader-Willi syndrome (PWS) is a rare genetic neurodevelopmental disorder characterized by an insatiable appetite, leading to chronic overeating and obesity. Additional features include short stature, intellectual disability, behavioral problems and incomplete sexual development. Although significant progress has been made in understanding the genetic [...] Read more.
Prader-Willi syndrome (PWS) is a rare genetic neurodevelopmental disorder characterized by an insatiable appetite, leading to chronic overeating and obesity. Additional features include short stature, intellectual disability, behavioral problems and incomplete sexual development. Although significant progress has been made in understanding the genetic basis of PWS, the mechanisms underlying the pathogenesis of the disorder remain poorly understood. Treatment for PWS consists mainly of palliative therapies; curative therapies are sorely needed. Zebrafish, Danio rerio, represent a promising way forward for elucidating physiological problems such as obesity and identifying new pharmacotherapeutic options for PWS. Over the last decade, an increased appreciation for the highly conserved biology among vertebrates and the ability to perform high-throughput drug screening has seen an explosion in the use of zebrafish for disease modeling and drug discovery. Here, we review recent advances in developing zebrafish models of human disease. Aspects of zebrafish genetics and physiology that are relevant to PWS will be discussed, and the advantages and disadvantages of zebrafish models will be contrasted with current animal models for this syndrome. Finally, we will present a paradigm for drug screening in zebrafish that is potentially the fastest route for identifying and delivering curative pharmacotherapies to PWS patients. Full article
(This article belongs to the Special Issue Prader-Willi Syndrome)
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186 KiB  
Review
Pituitary-Adrenal Axis in Prader Willi Syndrome
by Olivia S. Edgar, Angela K. Lucas-Herald and Mohamad Guftar Shaikh
Diseases 2016, 4(1), 5; https://doi.org/10.3390/diseases4010005 - 19 Jan 2016
Cited by 3 | Viewed by 4832
Abstract
Purpose: Prader Willi syndrome (PWS) is a rare genetic condition that has concurrent endocrinological insufficiencies. The presence of growth hormone deficiency has been well documented, but adrenal insufficiency (AI) is not widely reported. A review was conducted to investigate its prevalence and relevance [...] Read more.
Purpose: Prader Willi syndrome (PWS) is a rare genetic condition that has concurrent endocrinological insufficiencies. The presence of growth hormone deficiency has been well documented, but adrenal insufficiency (AI) is not widely reported. A review was conducted to investigate its prevalence and relevance in PWS in both adults and children. Methodology: A literature review was performed with the search terms “Prader-Willi syndrome” and “adrenal insufficiency”. Results: The review found studies disagree on the prevalence and method of investigation of AI in PWS. Case studies demonstrate that patients with PWS are at risk of premature death, often secondary to respiratory infections. The possibility that this may be the result of the inability to mount an effective cortisol response has been studied, with some evidence confirming AI in PWS patients. Most reports agreed AI is present in PWS, however, Farholt et al. showed no HPA axis dysfunction in adults, suggesting that perhaps it is rare in adults, and children should be the focus of further studies. Conclusion: AI is present in some patients with PWS. Further research is required to ensure optimal treatment can be implemented and to prevent premature deaths related to adrenal insufficiency. Clinicians should have a low threshold for testing the adrenal axis and considering treatment for adrenal insufficiency in PWS patients. Full article
(This article belongs to the Special Issue Prader-Willi Syndrome)
1089 KiB  
Review
Prader-Willi Syndrome and Schaaf-Yang Syndrome: Neurodevelopmental Diseases Intersecting at the MAGEL2 Gene
by Michael D. Fountain and Christian P. Schaaf
Diseases 2016, 4(1), 2; https://doi.org/10.3390/diseases4010002 - 13 Jan 2016
Cited by 57 | Viewed by 16118
Abstract
Prader-Willi syndrome (PWS) is a neurodevelopmental disorder characterized by neonatal hypotonia, developmental delay/intellectual disability, and characteristic feeding behaviors with failure to thrive during infancy; followed by hyperphagia and excessive weight gain later in childhood. Individuals with PWS also manifest complex behavioral phenotypes. Approximately [...] Read more.
Prader-Willi syndrome (PWS) is a neurodevelopmental disorder characterized by neonatal hypotonia, developmental delay/intellectual disability, and characteristic feeding behaviors with failure to thrive during infancy; followed by hyperphagia and excessive weight gain later in childhood. Individuals with PWS also manifest complex behavioral phenotypes. Approximately 25% meet criteria for autism spectrum disorder (ASD). PWS is caused by the absence of paternally expressed, maternally silenced genes at chromosome 15q11-q13. MAGEL2 is one of five protein-coding genes in the PWS-critical domain. Truncating point mutations of the paternal allele of MAGEL2 cause Schaaf-Yang syndrome, which has significant phenotypic overlap with PWS, but is also clinically distinct; based on the presence of joint contractures, and a particularly high prevalence of autism spectrum disorder (up to 75% of affected individuals). The clinical and molecular overlap between PWS and Schaaf-Yang syndrome, but also their distinguishing features provide insight into the pathogenetic mechanisms underlying both disorders. Full article
(This article belongs to the Special Issue Prader-Willi Syndrome)
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812 KiB  
Review
Puzzle Pieces: Neural Structure and Function in Prader-Willi Syndrome
by Katherine E. Manning and Anthony J. Holland
Diseases 2015, 3(4), 382-415; https://doi.org/10.3390/diseases3040382 - 17 Dec 2015
Cited by 17 | Viewed by 7172
Abstract
Prader-Willi syndrome (PWS) is a neurodevelopmental disorder of genomic imprinting, presenting with a behavioural phenotype encompassing hyperphagia, intellectual disability, social and behavioural difficulties, and propensity to psychiatric illness. Research has tended to focus on the cognitive and behavioural investigation of these features, and, [...] Read more.
Prader-Willi syndrome (PWS) is a neurodevelopmental disorder of genomic imprinting, presenting with a behavioural phenotype encompassing hyperphagia, intellectual disability, social and behavioural difficulties, and propensity to psychiatric illness. Research has tended to focus on the cognitive and behavioural investigation of these features, and, with the exception of eating behaviour, the neural physiology is currently less well understood. A systematic review was undertaken to explore findings relating to neural structure and function in PWS, using search terms designed to encompass all published articles concerning both in vivo and post-mortem studies of neural structure and function in PWS. This supported the general paucity of research in this area, with many articles reporting case studies and qualitative descriptions or focusing solely on the overeating behaviour, although a number of systematic investigations were also identified. Research to date implicates a combination of subcortical and higher order structures in PWS, including those involved in processing reward, motivation, affect and higher order cognitive functions, with both anatomical and functional investigations indicating abnormalities. It appears likely that PWS involves aberrant activity across distributed neural networks. The characterisation of neural structure and function warrants both replication and further systematic study. Full article
(This article belongs to the Special Issue Prader-Willi Syndrome)
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640 KiB  
Review
Medication Trials for Hyperphagia and Food-Related Behaviors in Prader–Willi Syndrome
by Jennifer L. Miller, Theresa V. Strong and Janalee Heinemann
Diseases 2015, 3(2), 78-85; https://doi.org/10.3390/diseases3020078 - 3 Jun 2015
Cited by 16 | Viewed by 11871
Abstract
Prader-Willi syndrome (PWS) is a neurodevelopmental disorder caused by the absence of paternally expressed, imprinted genes on chromosome 15q11-13. Individuals with PWS characteristically have poor feeding and lack of appetite in infancy, followed by the development of weight gain and then uncontrolled appetite [...] Read more.
Prader-Willi syndrome (PWS) is a neurodevelopmental disorder caused by the absence of paternally expressed, imprinted genes on chromosome 15q11-13. Individuals with PWS characteristically have poor feeding and lack of appetite in infancy, followed by the development of weight gain and then uncontrolled appetite and lack of satiety, sometime after the age of two. The overwhelming drive to eat is coupled with reduced energy expenditure and decreased caloric requirements, thus, individuals with PWS will become severely obese unless their food intake is strictly controlled. The mechanisms underlying hyperphagia in PWS remain incompletely understood, and to date no drugs have proven effective in controlling appetite. However, clinical trials have started for several medications, which may provide therapeutic options for those with PWS. These medication trials may also provide insight into potential treatments for obesity in the general population. Ideally, these treatments will help alleviate the complex metabolic issues that are part of this syndrome. Full article
(This article belongs to the Special Issue Prader-Willi Syndrome)
667 KiB  
Review
Growth Hormone Therapy in Adults with Prader-Willi Syndrome
by Karen S. Vogt and Jill E. Emerick
Diseases 2015, 3(2), 56-67; https://doi.org/10.3390/diseases3020056 - 16 Apr 2015
Cited by 9 | Viewed by 7931
Abstract
Prader-Willi syndrome (PWS) is characterized by hyperphagia, obesity if food intake is not strictly controlled, abnormal body composition with decreased lean body mass and increased fat mass, decreased basal metabolic rate, short stature, low muscle tone, cognitive disability, and hypogonadism. In addition to [...] Read more.
Prader-Willi syndrome (PWS) is characterized by hyperphagia, obesity if food intake is not strictly controlled, abnormal body composition with decreased lean body mass and increased fat mass, decreased basal metabolic rate, short stature, low muscle tone, cognitive disability, and hypogonadism. In addition to improvements in linear growth, the benefits of growth hormone therapy on body composition and motor function in children with PWS are well established. Evidence is now emerging on the benefits of growth hormone therapy in adults with PWS. This review summarizes the current literature on growth hormone status and the use of growth hormone therapy in adults with PWS. The benefits of growth hormone therapy on body composition, muscle strength, exercise capacity, certain measures of sleep-disordered breathing, metabolic parameters, quality of life, and cognition are covered in detail along with potential adverse effects and guidelines for initiating and monitoring therapy. Full article
(This article belongs to the Special Issue Prader-Willi Syndrome)
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