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חדשות ומחקרים 

March 24, 2016

Allyson Thomson, Emma Glasson, Peter Roberts & Alan Bittles


Purpose: This study investigated two of the stresses experienced by parents caring for offspring with Angelman syndrome (AS) and Prader–Willi syndrome (PWS) in Western Australia, and identified their coping strategies. Methods: Parents of 19 offspring with AS and PWS participated in the Family Stress and Coping Interview which provides a stress level score, and a discussion of stressors and coping methods associated with 24 life situations, two of which are reported. All text was examined using directed content analysis. Results: Family carers (14/19) reported high stress associated with the initial diagnosis of AS or PWS in their offspring; and finding time for themselves. Stressors identified included lack of quality information about the disorder, time constraints and physical and emotional tiredness. Parents adopted a variety of coping strategies, including learning about the disorder, accepting the situation, seeking instrumental and social supports and dealing with problems. Conclusions: No spe- cific coping strategy was associated with reduced stress. However, parents felt that accurate and timely information during the diagnostic period helped. Parents used family and community support although there were difficulties accessing respite care. It is advised that government agencies, service providers, family members and peer support associations should provide practical and emotional support to assist the parents of offspring with AS and PWS, and indeed any form of intellectual disability, across the lifespan.

March 08, 2018

Jennifer L. Miller1 Carlos Sulsona | Roy Tamura2 | June-Anne Gold5  |  Merlin G. Butler3 | Virginia Kimonis4 | Daniel J. Driscol

Prader–Willi syndrome (PWS) is a rare, complex multisystem genetic disorder which includes hypothalamic dysfunction, hyperphagia, cognitive and behavioral problems, increased anxiety, and compulsive behaviors. Individuals with PWS have a deficit of oxytocin producing neurons in the paraventricular nucleus of the hypothalamus. Oxytocin plays a role in regulation of feeding behaviors, social interactions, and emotional reactivity, which are all issues that significantly affect the quality of life for individuals with this syndrome. We performed a double-blind, placebo-controlled, crossover study in 24 children with PWS at three academic institutions using 5 days of intranasal oxytocin (IN-OT) or 5 days of intranasal placebo spray, followed by a 4 week washout period, and then patients returned for 5 days of treatment with the alternate source. Questionnaires, including the Aberrant Behavior Checklist, Social Responsiveness Scale, Repetitive Behavior Scale − Revised, and the Hyperphagia Questionnaire, as well as Clinical Global Impression scales were administered. Blood testing for sodium, potassium, and glucose levels on days 2, 4, and 6, and a 24 hr diet recall. All scales factor improvement from Day 3 to Day 6 favored oxytocin over placebo. No single factor showed a statistically significant difference (P < 0.05) between groups at Day 6. The drug effect appeared to be diminished at Day 14. There was no evidence of a difference between oxytocin and placebo in safety lab parameters, 60 min post dose vital signs, weight, or diet parameters. The results from this study suggest that low dose intranasal oxytocin is safe for individuals with PWS and may result in reduction in appetite drive, and improvements in socialization, anxiety, and repetitive behaviors. Further, long-term studies with a larger population of participants are necessary to confirm these findings. The results of this study are encouraging that oxytocin may be a safe and effective treatment for many of the issues that negatively impact individuals with PWS.

March 09, 2018

Jennifer L. Miller

Department of Pediatrics, Division of Endocrinology, University of Florida, Gainesville, Florida 32608

Prader-Willi syndrome (PWS) is a complex genetic dis- order that is caused by the absence of normally active paternally expressed genes from the chromosome 15q11- q13 region (1). PWS has a prevalence of 1/10,000 to 1/30,000 individuals and is characterized by poor feeding in infancy often associated with failure to thrive, followed by obesity beginning around age 2 (1, 2). These individuals also have hyperphagia, hypotonia, developmental and cognitive delay, behavioral problems, and neuroendo- crine abnormalities. Hypogonadism is present in both males and females and manifests as genital hypoplasia, incomplete pubertal development, and, in most, infertil- ity. Short stature is common, related to GH insufficiency. Characteristic facial features, strabismus, and scoliosis are often present, and there is an increased incidence of sleep disturbance and type II diabetes mellitus, the latter par- ticularly in those who become obese.

March 08, 2018

Suzanne B. Cassidy, MD1, Stuart Schwartz, PhD2, Jennifer L. Miller, MD3 and Daniel J. Driscoll, MD, PhD4

Prader-Willi syndrome is characterized by severe infantile hypotonia with poor suck and failure to thrive; hypogonadism causing genital hypoplasia and pubertal insu ciency; char- acteristic facial features; early-childhood onset obesity and hyperphagia; developmental delay/mild intellectual disability; short stature; and a distinctive behavioral phenotype. Sleep abnormalities and scoliosis are common. Growth hormone insu ciency is frequent, and replacement therapy provides improvement in growth, body composition, and physical attri- butes. Management is otherwise largely supportive. Consensus clinical diagnostic criteria exist, but diagnosis should be con rmed through genetic testing. Prader-Willi syndrome is due to absence of paternally expressed imprinted genes at 15q11.2-q13 through paternal deletion of this region (65–75%

of individuals), maternal uniparental disomy 15 (20–30%), or an imprinting defect (1–3%). Parent-speci c DNA methyla- tion analysis will detect >99% of individuals. However, addi- tional genetic studies are necessary to identify the molecular class. ere are multiple imprinted genes in this region, the loss of which contribute to the complete phenotype of Prader- Willi syndrome. However, absence of a small nucleolar orga- nizing RNA gene, SNORD116, seems to reproduce many of the clinical features. Sibling recurrence risk is typically <1%, but higher risks may pertain in certain cases. Prenatal diagno- sis is available.

Genet Med 2012:14(1):10–26

Key Words: hypotonia; imprinting; obesity; Prader-Willi syndrome; uniparental disomy

March 08, 2018

Nicola Bridges


Prader Willi syndrome (PWS) is a genetic condition caused by loss of the paternal copy of a region of imprinted genes on chromosome 15. There is severe muscular hypotonia in the neonatal period, with the onset of hyperphagia and food-seeking behaviour in childhood. All individuals with PWS have developmental delay. Without careful control of food intake and the food environment, individuals with PWS become morbidly obese and are likely to die as young adults from the complications of obesity. The aims of growth hormone (GH) treatment in PWS are distinct from the use of GH in other conditions—although GH does increase final height in PWS, the main benefits of treatment are improved body composition and better exercise capacity, which can help with the aim of preventing obesity. GH trials in PWS have demonstrated improved muscle bulk, reduced fat mass and increased levels of physical activity. GH has also been demonstrated to improve attainment of developmental and cognitive milestones in children with PWS. GH treatment appears to change respiratory status in PWS, possibly because of growth of lymphoid tissue at the start of treatment. Respiratory assessment is recommended prior to, and just after starting GH treatment. Ideal age for starting GH is not clear, although there has been a trend towards starting at younger ages. It may be that GH treatment in childhood confers benefits into adult life. There are less data to support continuing GH treatment into adult life.

March 08, 2018

Nienke E. Bakker,1,2 Anders Lindberg,3 Joseph Heissler,4 Hartmut A. Wollmann,4 Cecilia Camacho-Hu ̈bner,4 and Anita C. Hokken-Koelega,1,2 on behalf of the KIGS Steering Committee

May 17, 2016

ורדה גרוס-צור

התסמונת הגנטית פראדר-ווילי כוללת תסמינים רבים בנוסף לאכילה כפייתית, כגון פיגור שכלי, בעיות בדיבור ובהיגוי ובנשימה ובשינה. מהם מאפייני ההיריון שעשויים לתרום לאבחונה כבר בשלב זה

א', בן 25, הצליח לברוח מההוסטל שבו שהה, נעלם ל-36 שעות, אכל מכל הבא ליד – גם אוכל בלתי אכיל - ועלה 13 ק"ג בזמן זה. א' לוקה בתסמונת פראדר-ווילי (PWS), המכונה גם "תסמונת הרעב הקטלני". בישראל נולדים כל שנה בממוצע 8-10 תינוקות הלוקים בתסמונת, שמקורה גנטי. באדם קיימים 46 כרומוזומים (23 זוגות – עותק אחד מורש מהאב ועותק אחד מהאם) בגרעין התא - שמכיל את החומר התורשתי (דנ"א) - אשר אוצרים כ-25,000 גנים. בתסמונת פראדר ווילי נפגע העותק האבהי של כרומוזום מספר 15, ואז הגנים שקשורים אליו לא יכולים להתבטא.  לאכילה כפייתית, כגון פיגור שכלי, בעיות בדיבור ובהיגוי ובנשימה ובשינה. מהם מאפייני ההיריון שעשויים לתרום לאבחונה כבר בשלב זה

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