Anticipatory Guidance for Parents of Prader-Willi Children

Mary Ellen Nolan

Disclosures

Pediatr Nurs. 2003;29(6) 

In This Article

Abstract and Introduction

Prader-Willi syndrome (PWS) is a complex genetic disorder. It is characterized by hypotonia, short stature, hypogonadism, mental retardation, behavioral problems, and hyperphagia, which result in excessive obesity (Lindgren et al., 2000). The abnormal body composition resembles children seen with growth hormone deficiency (Carrel & Allen, 2001) . The dysmorphic features characteristic of PWS include a narrow forehead, a broad nasal bridge, slightly up slanting almond-shaped palpebral fissures, a down turned mouth with a thin upper lip, and narrow hands and feet (Martin et al., 1998).

Management of children with PWS requires an ongoing multidisciplinary approach. The delivery of care includes assistance from geneticists, nutritionists, internists, endocrinologists, physical therapists, and psychologists to meet the medical, developmental, behavioral, and social needs. The focus of the nurse practitioner should include assisting the family in the management of these complex patients throughout their childhood.

Drs. Prader, Labhat, and Willi first described the Prader-Willi syndrome (PWS) in 1956. Andrea Prader is regarded as one of the founding fathers of pediatric endocrinology (Couper & Couper, 2000). The genetic disruption results from the absence of the paternal allele of chromosome 15. Approximately 70% of children with PWS have a deletion of the proximal long arm of chromosome 15, whereas about 30% have 2 copies of a chromosome from the mother and none from the father (Myers, Carrel, Whitman, & Allen, 2000). The incidence of PWS is believed to lie between 1:10,000 and 1: 15,000 live births (State & Dykens , 2000). PWS occurs in both sexes and all races. Genetic testing includes a DNA-based methylation analysis and a fluorescent in situ hybridization (FISH) to confirm the diagnosis of PWS (Richer, Shevell, & Miller, 2001).

Lindgren et al. (2000) state that the combination of several autonomic dysfunctions that affect appetite regulation, growth, and pubertal development are suggestive of hypothalamic dysfunction. One clinical characteristic of PWS is obesity. Obesity appears to result from hypothalamic-pituitary dysfunction. Low growth hormone serum levels in patients with PWS also are related to hypothalamic-pituitary dysfunction (Grosso et al., 1998).

Delayed motor development is present in 90%-100% of patients with PWS. Cognitive abnormalities are evident as the child reaches school. Testing indicates that most children with PWS are mildly retarded or of low normal intelligence. Regardless of the IQ, children with PWS have multiple learning disabilities. A behavior profile characterized by controlling manipulative behavior, obsessive-compulsive behavior, and stubbornness is evident in early childhood (Cassidy & Schwartz, 2000).

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