From the Guidelines
Prader-Willi syndrome (PWS) is a genetic disorder caused by the lack of expression of genes from an imprinted region of the paternally inherited chromosome 15q11-q13, characterized by significant cognitive, neurologic, endocrine, and behavioral abnormalities. The syndrome affects both genders equally and occurs in people from all geographic regions, with an estimated incidence of 1 in 15,000 to 1 in 25,000 live births 1. Key features of PWS include:
- Significant hypotonia, early feeding problems, and difficulty with weight gain in infancy
- Hyperphagia (excessive appetite for food) leading to obesity and characteristic behavior problems in later stages
- Impinging on the quality of life, with potential complications such as diabetes, obstructive sleep apnea, and right-sided heart failure if not properly managed 1 Management of PWS requires a multidisciplinary approach, focusing on meticulous weight control and management of eating behaviors to improve long-term outcomes and prevent associated complications. With careful management, individuals with PWS can remain healthy well into older adult life, and some may live into their seventh decade 1.
From the Research
Definition and Characteristics of Prader-Willi Syndrome (PWS)
- Prader-Willi syndrome (PWS) is a rare and complex genetic disorder with multiple effects on the metabolic, endocrine, and neurological systems, as well as behavioral and intellectual difficulties 2.
- It is characterized by a complex lifelong trajectory involving neurodevelopmental, nutritional, endocrine, metabolic, and behavioral changes 3.
- The major symptoms include hypotonia, short stature, hypogonadism, and eating disorders ranging from anorexia in infancy to hyperphagia, a deficit of satiety, and a high risk of severe obesity 3.
Clinical Features and Management
- Children and adolescents with PWS usually display developmental delay and mild learning disability and can develop endocrinopathies, scoliosis, respiratory difficulties, challenging behaviors, skin picking, and mental health issues, especially into adulthood 4.
- The management of PWS requires a multi-disciplinary approach, ideally through a multi-disciplinary team (MDT) clinic with community support 4.
- A comprehensive team approach to management is necessary to optimize outcomes, including medical concerns, behavioral manifestations, and cognitive limitations 5.
Treatment and Intervention
- Treatment with growth hormone (GH) has been shown to increase height velocity in children with PWS, decrease weight-for-height index values and body fat mass, and have a positive effect on lean body mass during at least the first year of therapy 5.
- Both lifestyle and pharmacological interventions may represent useful strategies to prevent the high rate of morbidity and mortality related to PWS 2.
- The use of bariatric surgery is still controversial, although there is promising evidence for the treatment of obesity in adulthood with current obesity medications in conjunction with lifestyle interventions 2.