Issues in Developmental Disabilities Prader Willi Syndrome

1. Issues in Developmental DisabilitiesPrader Willi Syndrome Lecture Presenter: Barb Dorn, RN, BSN PWS Consultant, PWSA of WI, Inc. Crisis Intervention Counselor, PWSA

2. Prader-Willi Syndrome Is About … PEOPLE

3. Prader-Willi Syndrome • PWS was first described in 1956 by doctors, Prader, Labhart and Willi. • It is a unique, very complex developmental disability. • It is caused by an abnormality on the 15th chromosome. • The hypothalamus does not work properly.

4. Outstanding Characteristics: • Learning problems (88% have some degree of cognitive limitation). • Behavior problems. • Insatiable appetite – the message of fullness never reaches the brain – they are always hungry.

5. Prevalence • Affects approximately 1:10,000-15,000 live births. • Occurs equally in both males and females. • Seen in persons of all races. • Most frequently occurring genetic cause of obesity. • Most common genetic cause of newborn hypotonia.

6. Failure to Thrive. Weak muscle tone. Poor suck – special feeding tubes and techniques. Excessive sleepiness. Poor growth and development. Developmental delays. Thriving too Well. Food preoccupation, food seeking, advancing to food stealing. Weight gain. Behavior concerns. Speech and language problems. Learning challenges. Social skill deficits. Stages

7. Physical Characteristics • Hypotonia (poor muscle tone) – developmental delays. • Altered nutritional needs – initially feeding difficulties; later weight gain with food obsession and seeking. • Hypogonadism – underdeveloped genitalia and undescended testicles. • Short stature, small hands and feet. • Almond-shaped eyes

8. Hypotonia - Poor Muscle Tone You can clearly see the affects of poor muscle tone in this infant with Prader-Willi syndrome. It is most pronounced in the trunk area.

9. Genetics and Diagnostic Testing • Clinical Criteria • Early Years – primary way to diagnose PWS. • Today – used to assist clinican in beginning diagnostic process to determine if definitive testing is indicated. • Today – advances in genetic testing make it possible to diagnose close to 100% of persons with PWS.

10. Every case of PWS is due to the baby failing to receive or have active genes from a specific section of the father’s chromosome 15. Genetics in Prader-Willi Syndrome

11. Paternal Deletion Approximately 70% cases. Most common. Part of chromosome 15 inherited from child’s father – PWS critical gene area – is missing. Maternal Uniparental Disomy (UPD) Approximately 25% of cases. Baby inherits both copies of chromosomes 15 from on parent – the mother. Maternal = mother Uniparental = 1 parent Disomy = 2 chromosomes Genetic Forms of Prader-Willi Syndrome

12. Imprinting Defect Approximately 2% cases. Activity of genes is controlled by a tiny imprinting center on chromosome 15 – genes are present but do not work. Can suddenly appear or may have been passed down from mother to father of child with PWS. 50-50 chance of having child with PWS. Father’s siblings may also carry this. Siblings who were not born with PWS may carry imprinting defect. Families should have genetic counseling. Andrew, Adam and Amanda are all siblings born with Prader-Willi syndrome. Genetic Forms of Prader-Willi Syndrome

13. Genetic Forms of Prader-Willi Syndrome Resource: “Prader-Willi Syndrome”, Daniel Wattendorf, MAJ, MC, USAF and Maximillian Muenke MD, American Family Physician Journal, Sept, 2005, Vol 72 No 5.

14. The HYPOTHALAMUS Its Influence on Prader-Willi Syndrome

15. Main organ impacted by PWS. Affects functioning: Impaired hormone production Growth Hormone Reproductive Hormones Disruption in Appetite Control Altered Regulation of Autonomic Nervous System Poor Auditory Short Term Memory Altered Functions in Hypothalamus in Persons with PWS Hypothalamus

16. Altered Functions in Hypothalamus in Persons with PWS • Decreased Growth Hormone • Accounts for short stature, poor muscle tone, low metabolism and low bone density. • Helps regulate blood lipids – increases risk of cardiovascular disease. • Many infants, children and adults on GH therapy.

17. Altered Functions in Hypothalamus in Persons with PWS • Disruption In Appetite Control Center • Houses appetite control center. • Feeling of fullness never reaches brain. • May be mild to severe food drive. • Environmental supports to prevent access to food – life saving. • Abnormal Emotional Expression • Helps with expression of anger and rage. • May have extreme fluctuations.

18. Altered Functions in Hypothalamus in Persons with PWS • Altered Reproductive Hormones • Few produce normal or near normal levels of reproductive hormones. • May start puberty but do not complete. • Women may never menstruate and if they do – often irregular. Some have normal menses. • Men may start voice changes but do not complete. • Often have early growth of pubic and under arm hair. • Hormone replacement therapy used in some. • Few, very rare cases where women with PWS have conceived and given birth to a child. • No documented cases where man conceived offspring. Difficult to prove.

19. Altered Functions in Hypothalamus in Persons with PWS • Altered Regulation of Autonomic Nervous System • Temperature Regulation – Thermostat housed in hypothalamus. Body temperatures can elevate quickly. Fever may not be present in illness. • Water Balance – monitors and regulates body fluids and production of antidiurectic hormone. • Sleep Pattern – research shows abnormal sleep patterns. Many do not sleep well at night.

20. The Impact of the Diagnosis and Disability on the Family and Person with Prader-Willi Syndrome

21. Grief – loss of “normal” child. Fear and Worry About future About lack of knowledge Challenge in balancing needs of child, family marriage. Greater appreciation for achieving small goals – celebrating success and accomplishments. Impact on Parents

22. Impact on Parents • Need to change most aspects of life: • Parenting style – need to learn new parenting skills • Economics • The way food is viewed in home and life. • Need to live a more structured life style. • Life long parenting • Special estate planning.

23. Impact on Grandparents • Grief – Grandparents also experience feelings of loss. Difficult to watch their own child in pain. • Need to change some of the ways they may “spoil” their grandchild. • Often take on greater role in supporting their grandchild.

24. Early years – often do not realize differences. Playmates, role models. May mimic behaviors of sibling with PWS – food seeking, tantrums. May become jealous and envious of attention sibling receives. May want to be disabled too. Impact on Siblings

25. Impact on Siblings • As grow older, may have to make changes and sacrifices to accommodate PWS. • May take on greater role in child care – become more responsible and nurturing. • Impacts comfort level in bringing friends home – embarrassed by locked food and unpredictable behavior. • If sibling with PWS has outbursts at school – often felt by other siblings.

26. Adult siblings often take on more responsibilities as guardian and/or executor of estate. Siblings of all ages require special 1:1 time with parents and family. Impact on Siblings

27. Early years – often do not realize differences. May be included in most activities. Needs close attention to dietary needs. Impact on the Person with Prader-Willi Syndrome

28. Very loving, caring youngsters. Friendly to others – sometimes too friendly. School age – social skill deficits. Need to learn social concepts that peers may not need to learn. Winning and fairness can be problematic. Impact on the Person with Prader-Willi Syndrome

29. Impact on the Person with Prader-Willi Syndrome • As grows older – differences become more evident to them. • Often unhappy and angry about disability. Food and diet impact all aspects of life. Want to be like others. • Food seeking and behavior outbursts make friendships difficult to initiate and keep. Often need assistance from parents and educators. • Grieve loss of many life events – driver’s license, independent dating, sports – may be able to do with assistance.

30. As adults, many grieve loss of normal adult developmental milestones Want to date and have close adult relationship – sometimes to extreme degree. Often see strong desire to be parents. Many establish close relationship with other younger family members. Impact on the Person with Prader-Willi Syndrome

31. Health Issues and Concerns

32. Health Issues and Concerns • The Early Years • Nutrition, Growth and Development • Poor weight gain and slower growth • Strabismus – Cross Eye • May require patching and/or surgery • Lack of Vomiting • Becomes concerning in cases of poisoning. • Emetics often ineffective.

33. Health Issues and Concerns • Life Long • High Pain Threshold • Sensation of pain is not often felt. • All injuries and suspected illnesses need to be assessed. • Scoliosis • Found in persons of all ages. • Braces used to prevent advancement. May need surgery. • Body Temperature Abnormalities • Both very high and very low temperatures reported. • May not have fever in cases of infection.

34. Life Long cont. Respiratory Problems Increased incidence of sleep apnea – all ages. If obese – weight loss; CPAP (Continuous Positive Airway Pressure) Poor muscle tone – high risk of pneumonia with upper respiratory infections. Must have sleep study prior to start of growth hormone therapy. Health Issues and Concerns

35. Health Issues and Concerns • Life Long cont. • Increased Sensitivity to Medications – especially those that cause sedation. Includes general anesthesia. • Increase risk of injury due to poor muscle tone. • Increase bruising. • Fair coloring – risk of sun burning.

36. Older Ages – (Not in infants) Skin Picking – can be very problematic. Often mistaken for abuse. Cellulitis common. Dental Problems – poor enamel, cavities, teeth grinding. Often see thick, sticky saliva Good oral care and dental check ups Osteoporosis May result from hormone deficiencies and life long dietary limitations. May sustain fractures easily Health Issues and Concerns

37. Severe Gastric Illness Seeing increasing number of cases – inflammation of stomach. In some cases – death of stomach tissue and rupturing of stomach. Symptoms: complaints of “not feeling well”; abdominal distention, vomiting, may or may not have complaints of abdominal pain. Often noted after binge episode. Requires immediate evaluation by health care professional Complications of Obesity Today - more prevention of obesity. Diabetes Heart complications – right sided heart failure Respiratory problems. Health Issues and Concerns

38. Health Issues and Concerns • Recommend carrying medical brochure and information at all times. • Refer Health Care professionals to PWSA (USA) website or toll free number when unsure of symptoms and/or treatment issues.

39. Resources for Families and Professionals

40. LOCALLY Prader-Willi Syndrome Association of WI, Inc. Provides support, education and advocacy. Website: www.pwsausa.org/WI Toll free number Publications, newsletter, social events, trainings, consultations, advocacy and support. Locate local chapter in your area by going to PWSA (USA) website – support – chapters – use map. NATIONALLY Prader-Willi Syndrome Association (USA) Provides support, education and advocacy nationwide. Funds research. Website: www.pwsausa.org Toll free number Creates and disseminates publications, information & bi-monthly newsletter. Provides support, Young Parent Mentoring Program, Crisis Support. Assists professional to professional consultations. Resources for Families and Professionals

41. INTERNATIONALLY International Prader-Willi Syndrome Organisation Provides information and support around the world. Website: www.ipwso.org Publications, information and support. Resources for Families and Professionals • NATIONALLLY • Foundation for Prader-Willi Syndrome Research • Funds go toward the advancement of research in finding a cure for PWS. • Website: www.fpwr.org

42. NATIONALLLY Foundation for Prader-Willi Syndrome Research Funds go toward the advancement of research in finding a cure for PWS. Website: www.fpwr.org INTERNATIONALLY International Prader-Willi Syndrome Organisation Provides information and support around the world. Website: www.ipwso.org Publications, information and support. Resources for Families and Professionals

43. Hope for the Future

44. Hope for the Future • More research studies on Prader-Willi syndrome than ever before. • Increase focus on obesity research is helping persons with Prader-Willi syndrome. • Improved quality of life for those living with this disability. • Hormone replacement therapy is changing the growth and development of our youth. • Continued need for more information that will help our aging population. • Hope today … for a cure tomorrow.

45. The Larson's - A Special Family

46. Alex and Mathew – Special Brothers

47. A Life Long Continuum: Challenges for Children and Adults with Prader-Willi Syndrome

48. The Infant and Young Child NUTRITION AND HEALTH NEEDS Feeding difficulties, poor weight gain. Seen at birth to around the age of 2 years. Require special feeding techniques. Focus on nutrition and weight gain. A Life Long Continuum of Challenges for Children and Adults with PWS Many require special feedings into a gastrostomy tube placed in the abdomen. Monitoring weight becomes a life long task.

49. A Life Long Continuum of Challenges for Children and Adults with PWS • Once weight starts to increase – must begin to monitor calories. • Important for parent to receive nutritional counseling. • Need outside support on diet and nutrition – families and friends. • NEW RESEARCH on use of Growth Hormone in infants – data promising. • Health Concerns: strabismus, sleep apnea and scoliosis.

50. DELAYED DEVELOPMENTAL MILESTONES Poor muscle tone impacts most developmental milestones – sitting, crawling, walking, talking. Require early intervention services. Excessive sleepiness – must be stimulated – not allowed to sleep all of the time. Affects feeding and speech and language. Requires a means to communicate – sign language, communication boards. A Life Long Continuum of Challenges for Children and Adults with PWS