PRADER WILLI Syndrome

What is Prader Willi Prader-Willi Syndrome (PWS) is a genetic disorder that occurs in approximately one out of every 15,000 births. PWS affects males and females with equal frequency and affects all races and ethnicities. PWS is recognized as a common genetic cause of childhood obesity. Prader Willi Syndrome was first described by Swiss doctors Andrea Prader, Alexis Lab hart and Heinrich Willi in 1956 based on the clinical characteristics of nine children they had examined.  The common characteristics defined in the initial report included small hands and feet, abnormal growth and body composition (small stature, very low lean body mass and early onset childhood obesity), hypotonia at birth, insatiable hunger, extreme obesity and intellectual disability. In recent years, the syndrome has been genetically characterized as an abnormality of chromosome 15, and definitive diagnosis is now based on genetic testing.

What are the symptoms of Prader-Willi Syndrome? The symptoms of Prader-Willi syndrome are believed to be caused by dysfunction of a portion of the brain called the hypothalamus. The hypothalamus is a small endocrine organ at the base of the brain that plays a crucial role in many bodily functions: Hunger and satiety, temperature and pain regulation, fluid balance, puberty, emotions, and fertility. Although hypothalamic dysfunction is believed to lead to the symptoms of PWS, it is unclear how the genetic abnormality causes hypothalamic dysfunction. There are two generally recognized stages of the symptoms associated with PWS:

Stage 1 Infants with PWS are hypotonic or “floppy” very low muscle tone. Weak cry and a poor suck reflex are typical. Babies with PWS usually are unable to breastfeed and frequently require tube feeding. Infants may suffer from “failure to thrive” if feeding difficulties are not carefully monitored and treated. children grow older, strength and muscle tone generally improve. Motor milestones are achieved, but are usually delayed. .

Stage 2- 6 years old unregulated appetite want to eat all time. they will over eat if not monitored Food seeking behaviors are very common. Metabolism is lower than normal. Those with normal IQs usually exhibit learning disabilities. Other issues : speech ,short stature, small hands and feet, scoliosis, sleepiness, Behavior challenges: obsessive-compulsive symptoms, skin picking, and difficulty controlling emotions. PWS is a spectrum disorder and symptoms vary in severity and occurrence among individuals

What causes Prader-Willi syndrome? PWS is caused by a lack of active genetic material in a particular region of chromosome 15 (15q11-q13). Normally, individuals inherit one copy of chromosome 15 from their mother and one from their father. The genes in the PWS region are normally only active on the chromosome that came from a person’s father. In PWS, the genetic defect causing inactivity of chromosome 15

Infancy Failure to thrive continued feeding difficulties delayed milestones, intellectual delays excessive sleeping

Childhood speech delay Poor coordination Over eating

Adolescence delayed puberty Short stature Obesity Extreme flexibility

Small hands and feet Almond shaped eyes Delayed in motor development Pws children and adults never feel full

Adults with PWS can eat and never feel full They can eat and eat and eat until they kill them selves There stomachs can burst open