Natasha Tracy Prader-Willi syndrome PWS is an uncommon inherited disorder characterized by mental retardation, decreased muscle tone, short stature, emotional liability and an insatiable appetite which can lead to life-threatening obesity. The syndrome was first described in by Drs. Prader, Labhart, and Willi.
The combination of nutritional, medical, and behavioral problems is challenging. While the syndrome is often diagnosed in the neonatal period, it may not be suspected until the onset of obesity later in childhood.
Consensus diagnostic criteria see Appendix Prader willi syndrom now available to assist practitioners in recognizing this syndrome. The following guidelines are designed to be a resource for pediatricians, family practitioners, internists, geneticists, nurses, nutritionists, psychologists, allied health care providers, educators, and service agencies and as an aid to families and other caregivers.
They are based on expert opinion of physicians and other care providers who have substantial experience with PWS. Published studies on management of this syndrome are few. A selected bibliography which is arranged by topic is included in these guidelines.
Genetic testing is important to prevent unnecessary evaluations, assure appropriate management, and permit genetic counselling. Methylation analysis is the most efficient and cost-effective screening test. When deletion 15q is identified, the father should be tested as he could silently carry an abnormality and have an increased recurrence risk.
The test that detects all causes is methylation analysis.
Genetic counselling is indicated for all families in which an individual has been diagnosed with PWS. Infancy is marked by severe hypotonia leading to poor suck and failure to thrive.
Thereafter, two characteristics dominate the clinical picture - a voracious appetite and aberrant behavior. The insatiable hunger requires establishment of life long strict nutritional guidelines and constant supervision in order to avoid morbid obesity and consequent medical problems. The emotional liability and problem behavior call for ongoing interventions.
These health care guidelines include suggestions for managing concurrent medical, developmental, behavioral, educational, and social issues. The needs of each age group are addressed from the neonatal period through adulthood. As with any syndrome, not all features are present in every affected individual, and severity varies significantly.
People with PWS should receive the same standard health screenings and immunizations recommended for all well children, adolescents, and adults. General physical health usually remains good unless obesity becomes severe. Hypotonia Despite normal Apgar scores in most cases, babies are lethargic, have a weak cry, are very hypotonic, do not wake to feed, and are generally unresponsive.
Physical therapy may assist in overcoming hypotonia. Diagnostic genetic testing can lead to avoidance of unnecessary evaluations for neuromuscular causes of hypotonia. Nutrition Sucking is weak and in some cases not present at all; babies do not act hungry or show interest in feeding.
Special techniques and procedures are usually necessary to provide adequate nutrition such as special nipples, manipulation of mouth and jaw, gavage feedings and rarely, insertion of a gastrostomy tube.
Due to nutritional needs or complications resulting from hypotonia and poor feeding, prolonged hospitalization may be required. Frequent visits to the primary care physician are necessary to monitor weight and adjust intake accordingly. Assurance of adequate dietary fat for brain growth and development is essential.
Other Health Issues Thermoregulation may be abnormal; the most frequent problem at this age is hypothermia. Hypogonadism is manifested in males as undescended testicles, flat scrotum, and small penis.
Small labia minora and clitoris are noted in females. Family Issues Parents need reassurance and supportive counselling since these babies tend to be very sleepy and unresponsive and require almost continuous attention in order to maintain nutrition.
Once the diagnosis has been established through appropriate genetic testing, an explanation of the nature of the syndrome and genetic counselling should be offered. Developmental delay may be severe in the first year; there is usually considerable improvement during the second year.
Nutrition For those infants with continuing severe hypotonia, lethargy and weak suck, failure to thrive continues to require close attention to assure adequate nutrition. Normal nutritional guidelines should be followed. Weight gain, slow in the first year, tends to become normal during the next 12 months and obesity at this age is uncommon.Prader-willi syndrome (pws) is an uncommon genetic disorder.
It causes poor muscle tone, low levels of sex hormones and a constant feeling of hunger. The part of the brain that controls feelings of fullness or hunger does not work properly in people with pws. Learn Prader Willi syndrome with free interactive flashcards.
Choose from 64 different sets of Prader Willi syndrome flashcards on Quizlet. rader-Willi Syndrome (PWS), is a complex genetic disorder that typically causes low muscle tone, short stature, incomplete sexual development, cognitive disabilities, problem behaviors, and a chronic feeling of hunger that can lead to excessive eating and life-threatening obesity.
Diagnosis & Treatments How is Prader-Willi Syndrome diagnosed? A suspected diagnosis of PWS is usually made by a physician based on clinical symptoms. A type 1 excludes note is a pure excludes. It means "not coded here".
A type 1 excludes note indicates that the code excluded should never be used at the same time as QA type 1 excludes note is for used for when two conditions cannot occur together, such as a congenital form versus an acquired form of the same condition. Prader-Willi Syndrome (PWS) is a rare genetic disorder.
It causes poor muscle tone, low levels of sex hormones and a constant feeling of hunger. The part of the brain that controls feelings of fullness or hunger does not work properly in people with PWS. They overeat, leading to obesity.