COUN 502- Professor Myers
August 15, 2011
Prader-Willi syndrome, (PWS) is a genetic disorder that occurs in about one in every eight thousand births in the United States. PWS occurs when there is a defect or deletion in the fifteenth chromosome from either maternal or paternal origins. Individuals diagnosed with PWS need enhanced supervision to address the constant need to over eat. Current research identifies that the paternal chromosome presents with significant maladaptive behaviors. Behavioral issues commonly known to the disorder differ dependent on the origin of the parental chromosome. Obesity, physical aggression, temper tantrums, ritualistic behaviors, stubbornness, and self- injurious behavior (skin picking), along with other maladaptive behaviors are all characteristic of individuals with PWS. Due to an increased awareness, and accurate and reliable genetic testing, diagnosis of PWS occurs earlier than in the past. Recommendations for conducting assessments, applying behavior management strategies, and environmental adaptations are all supported by research in managing behaviors among individuals with PWS regardless of the origins. Keywords: Prader-Willi syndrome, obesity, self-injurious behaviors, skin picking
Every year in the United States, one in every sixteen thousand babies are born with PWS. PWS is the first human disease attributed to genomic imprinting (Mahgoub 2007). PWS according to Maas, Sinnema, Didden, Maaskant, Smits, Schrandel-Stumpel & Curfs (2010), is caused by a deletion or defect on chromosome fifteen of the paternal copy of a maternally imprinted gene. Infants with PWS have difficulty latching on to their mother’s nipple for nursing and sucking from a bottle; both resulting in alternate feeding methods to increase weight gain. According to Kundert (2008), “Two distinct eating disorders, failure to thrive [in infancy] and later overeating, are found in PWS”. In addition, individuals with PWS are typically delayed in expressive and receptive language in infancy and early adulthood. Delays are usually more pronounced once the child enters school. IQ scores of individuals with PWs range from “40 -100” (Butler et al. 2006; as cited in Kundert 2008). Generally, performance on cognitive and academic achievement measures varies across the different subtypes; individuals with TI deletions score lower that those with TII deletions or UPD (Miner et al. 2005; as cited in Kundert 2008). Although PWS is relatively rare in the United States, limited studies exist on PWS and how genetic subtypes affect individuals. As cited in Kundert (2008), PWS “has emerged as a pervasive developmental genetic disorder characterized by distinctive physical phenotype (e.g., dysmorphic facial features, short stature) and behavioral phenotype (e.g., hyperphagia, temper tantrums, ritualistic behaviors), with obesity the most significant health problem (Butler et al., 2006) (p. 247). Morgan, Storch, Woods, Botzin, Lewin, & Murphy (2010) describe individuals with PWS as having “a distinct phenotype presentation of infantile hypotonia, excessive weight gain/obesity (with unsuccessful intervention), hypogonadism, short stature, mild to moderate mental retardation, and food seeking and related behaviors [e.g., hyperphagia, food foraging ]”. Sinnema, Einfeld, Schrander-Strumpel, Maaskant, Boer, & Curfs (2011) add “neonatal hypotonia with feeding problems, global developmental delay, small hands and feet……and facial features” as additional characteristics of individuals with PWS. As cited in Kundert (2008) other physical disorders that are typical in PWS include: “impaired respiration, hypoventilation, and high carbon dioxide levels increase their susceptibility to infection. Temperature regulation difficulties and significant insensitivity...