Vocational Guidance and Employment of Persons with a Diagnosis of Prader-Willi Syndrome. (Vocational Guidance & Prader-Willi Syndrome)

Wadsworth, John S., McBrien, Dianne M., Harper, Dennis C., The Journal of Rehabilitation

Prader-Willi syndrome is an infrequent, but distinctive, genetic disorder that is expressed as cognitive and adaptive deficits, sexual immaturity, poor gross motor skills, emotional lability, sleep difficulties, and behavioral disturbances (Alexander, VanDyke, & Hanson, 1995; Akefeldt, Gillberg, & Larsson, 1991). This constellation was first described by Down (1887) and at a later date by Prader, Labhart, and Willi (1956). The most striking and easily identified behavioral manifestations of the chromosomal disorder are an intense preoccupation with food and marked abnormalities in satiety (Dykens, Leckman, & Cassidy, 1996; Zellweger, 1984). Serious behavioral difficulties, such as aggression, may often be related to food seeking.

In addition, persons with Prader-Willi syndrome typically also display severe behavioral difficulties not related to food seeking that include: irritability, lethargy, impulsiveness, obsessive behavior, temper tantrums, stubbornness, argumentativeness, and self-injurious behavior (Clarke, Boer, Chung, Sturmey, & Webb, 1996; Dykens et al., 1996; Greenswag, 1987). There is some evidence of a higher incidence of acute reoccurring psychotic symptoms not entirely accounted for by intellectual disability (Beardsmore, Dorman, Cooper, & Webb, 1998; Clarke, 1998). Despite severe behavioral outbursts, persons with a diagnosis of Prader-Willi syndrome are often described as generally good natured (Greenswag).

Individuals with the diagnosis of Prader-Willi syndrome present a challenge to vocational rehabilitation programs. Dykens et al. (1997) note that the supervision necessary to assist individuals with Prader-Willi syndrome in maintaining a quality lifestyle and preventing a premature death may be in conflict with the philosophical and ethical standards that promote consumer independence, choice making, and personal responsibility. To be vocationally successful, and to avoid the life threatening complications associated with morbid obesity, persons with the diagnosis of Prader-Willi benefit from vocational services that recognize the strong genetic component of behaviors characteristic of the syndrome (Saporito, 1995). These behavioral characteristics may limit the consumer's vocational choices. Many of these behaviors that have an organic basis are not easily modified by typical environmental supports or therapeutic interventions.

Understanding the genotype-phenotype relationship of the syndrome is critical in recognizing that emotional and behavioral disturbances, especially those that center on food, are not driven by cognitive processes, but rather are a behavioral manifestation of a chromosomal disorder (Alexander et al., 1995). These behaviors are extremely difficult to change through behavioral, cognitive, or other interventions that focus on self-awareness and self-control (Whitman & Greenswag, 1995). A clear understanding of this syndrome can help vocational counselors design more effective strategies for vocational guidance and placement of persons with the diagnosis of Prader-Willi syndrome.

The purpose of this paper is to review the incidence and diagnostic criteria of Prader-Willi syndrome. The functional features of the syndrome are presented and illustrated by several composite case examples that feature typical expressions of the syndrome and functional difficulties that arise from those expressions. Finally, vocational strategies are reviewed. This discussion focuses on strategies to assist rehabilitation counselors in the vocational assessment and counseling of persons with Prader-Willi syndrome.

Etiology and Diagnostic Criteria

Prader-Willi syndrome is a chromosomal disorder that results from the deletion or inactivation of information that codes for the organization of sub cellular organelles called nucleoli (Cassidy, 1995). Males and females appear to be equally affected (Alexander et al., 1995). In 60 to 70% of clinically typical individuals, the syndrome is caused by the deletion of the father's contribution to chromosome 15q (Butler, 1990). In a smaller number of cases, the syndrome is the result of uniparental disomy in which the maternal contribution to chromosome 15q is replicated, replacing the paternal contribution (Knoll, Nicholls, Magenis, & Graham, 1989). In less than 1% of cases, the disorder is the result of micro deletions, translocations, or imprinting mutations (Dimitropoulos et al., 2000). The chromosomal disorder results in insufficient function of the hypothalamus, which plays a major role in the regulation of homeostatic functions including hunger, thirst, sleep-wake cycles, and temperature, as well as the release of hormones that affect the pituitary gland that, in turn, control the release of other hormones that stimulate growth, sexuality, and thyroid function (Cassidy, 1995).

The development of persons with Prader-Willi syndrome is unique because there are two distinct phases (Alexander et al., 1995; Gunay-Aygun, Schwartz, Heeger, O'Riordan, & Cassidy, 2001). Infants and young children to age two or three typically display low birth weight, hypotonia, lethargy, poor reflexes, and skeletal abnormalities of the cranium (Zellweger, 1984). These children may be misdiagnosed as failure to thrive due to poor eating (Alexander et al.). However, due to the chromosomal disorder, the hypothglamus and pituitary fail to regulate satiety, and the child begins to exhibit an insatiable appetite that is characterized by constant feelings of hunger. Adolescence and young adulthood are marked by insatiable appetite as well as behavioral and emotional difficulties unrelated to food seeking (Cassidy, 1984). Without environmental management, persons with this syndrome die prematurely from complications of gross obesity (Zellweger, 1981).

Estimations of the incidence of Prader-Willi syndrome in the population vary (Alexander et al., 1995; Whittington et al., 2001). There have been only three estimates based on epidemiological data. Akefeldt et al. (1991) conducted a survey of health professionals and health services in a rural county in Sweden and estimated the prevalence of Prader-Willi syndrome among persons age zero to 25 years at 1:8,500. Whittington et al. conducted a …

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Publication information: Article title: Vocational Guidance and Employment of Persons with a Diagnosis of Prader-Willi Syndrome. (Vocational Guidance & Prader-Willi Syndrome). Contributors: Wadsworth, John S. - Author, McBrien, Dianne M. - Author, Harper, Dennis C. - Author. Journal title: The Journal of Rehabilitation. Volume: 69. Issue: 1 Publication date: January-March 2003. Page number: 15+. © 1999 National Rehabilitation Association. COPYRIGHT 2003 Gale Group.

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