Prader Willi Syndrome Research Paper

Carly Thompson

Prader-Willi Syndrome

HSES 473: Clinical Fitness Evaluation Techniques

Carly Thompson

4-29-2015

Abstract

Prader-Willi syndrome (PWS) is a rare and complex genetic disorder that typically causes low muscle tone, short stature, emotional and sexual immaturity, cognitive disabilities, behavioral issues, and chronic feeling of hunger. Due to its complexity, there are some areas of research that have not been thoroughly explored with this disorder. General PWS and background information is provided to help further understand the components of the disorder. Treatment for this genetic disorder generally includes exercise, growth hormone (GH) treatments, strict care plans, behavioral modification efforts, and coping mechanisms.

Caregivers must provide guidance and structure in order to manage both weight and behavior problems. The strict guidelines placed on PWS patients to maintain their weight can be difficult and stressful for the patient as well as the caregiver. Most patients suffering from PWS require constant supervision to adhere to the dietary restrictions that have been prescribed for the patient.

In the article Coping with Prader-Willi Syndrome, Goldberg et al. [10] states that the completion of this study was motivated by the limited availability of information pertaining to the methods used by families and caregivers to adhere to the extensive restrictions placed on patients with

Stress and coping in parents of children with prader-willi syndrome: assessment of the impact of a structured plan of care. American Journal of Medical Genetics Vol. Part A 167: 974-982, 2015.

[9] Vismara L, Cimolin V, Grugni G, Galli M, Parisio C, Sibilia O, Capodaglio P. Effectiveness of a 6-month home-based training program in prader-willi patients. Research in Developmental Disabilities Vol. 31: 1373-1379, 2010.

[10] Goldberg DL, Garrett CL, Van Riper C, Warzak WJ. Coping with prader-willi syndrome. Journal of the American Dietetic Association Vol. 102.4: 537-542, 2002.

[11] Castnera DM, Tuckerb JM, Wilsona KS, Rubin DA. Patterns of habitual physical activity in youth with and without prader- willi syndrome. Research in Developmental Disabilities Vol. 35: 3081-3088, 2014.

[12] Höybye, C. Current status of growth hormone therapy in prader–willi syndrome. Expert Review of Endocrinology & Metabolism Vol. 8, No.6: 529-536, 2013.

[13] Rice LJ, Einfeld SL. Cognitive and behavioural aspects of prader-willi syndrome. Current Opinion in Psychiatry Vol. 28: 102-106, 2015.

[14] Dykens, EM. Leisure activities in prader-willi syndrome: implications for health, cognition and adaptive functioning. Journal of Autism and Developmental Disorders Vol. 44.2: 294+,