1. Issues in Developmental Disabilities Prader 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. Stages Failure to Thrive. Thriving too Well. 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.

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. Genetics in Prader-Willi Syndrome
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.

11. Genetic Forms of Prader-Willi Syndrome
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

12. Genetic Forms of Prader-Willi Syndrome
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.

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. Its Influence on Prader-Willi Syndrome
The HYPOTHALAMUS
Its Influence on Prader-Willi Syndrome

15. Altered Functions in Hypothalamus in Persons with PWS
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
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. Impact on Parents 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.

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. Impact on Siblings
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.

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. Impact on Siblings
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.

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

28. Impact on the Person with Prader-Willi Syndrome
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.

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. Impact on the Person with Prader-Willi Syndrome
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.

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. Health Issues and Concerns
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.

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. Health Issues and Concerns
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

37. Health Issues and Concerns
Complications of Obesity
Today - more prevention of obesity.
Diabetes
Heart complications – right sided heart failure
Respiratory problems.
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

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. Resources for Families and Professionals
LOCALLY
Prader-Willi Syndrome Association of WI, Inc.
Provides support, education and advocacy.
Website:
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:
Toll free number
Creates and disseminates publications, information & bi-monthly newsletter.
Provides support, Young Parent Mentoring Program, Crisis Support.
Assists professional to professional consultations.

41. 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:
INTERNATIONALLY
International Prader-Willi Syndrome Organisation
Provides information and support around the world.
Website:
Publications, information and support.

42. 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:
INTERNATIONALLY
International Prader-Willi Syndrome Organisation
Provides information and support around the world.
Website:
Publications, information and support.

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. A Life Long Continuum of Challenges for Children and Adults with PWS
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.
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. A Life Long Continuum of Challenges for Children and Adults with PWS
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.

51. A Life Long Continuum of Challenges for Children and Adults with PWS
The School Age Child
NUTRITIONAL AND HEALTH NEEDS
Onset of Food Preoccupation and Food Seeking
Start to see weight gain with more interest in food – around age 2 years.
Different degrees of intensity. Most families must begin to lock up food. Some use alarms.
All require close monitoring of calories and weight.
Important to initiate exercise program – make fun and age appropriate.

52. A Life Long Continuum of Challenges for Children and Adults with PWS
Health Concerns: Growth Hormone therapy – FDA approved for children with PWS - increases muscle mass; decreases fat; improves bone density; improves cardiac and respiratory function.
Skin picking more problematic. May also see apnea and scoliosis.
Must be concerned with lack of pain response, temperature control problems and risk of gastric illness.

53. A Life Long Continuum of Challenges for Children and Adults with PWS
FINE AND GROSS MOTOR DELAYS
Continue to see motor delays. Impacts learning and daily living skills – writing, coordination, dressing and toileting skills.
May impair recreational abilities – riding bike, sports, dancing …
SPEECH AND LANGUAGE PROBLEMS
Continue to see delays and challenges
Often have good receptive but poor expressive abilities.
Must give child a way to communicate – often see frustrations which may lead to behavior problems.
Speech therapy common.

54. A Life Long Continuum of Challenges for Children and Adults with PWS
LEARNING PROBLEMS
88% have cognitive disability; others typically learning disabled.
Many are visual learners.
Do well with structured approach.
Concrete thinkers. Difficult time with sequential processing.
Challenge – food in learning environment.
Anxiety, frustration and behavior often interferes with learning.

55. A Life Long Continuum Challenges for Children and Adults with PWS
BEHAVIOR CHALLENGES
Strong need for structure and consistency. Very anxious about changes.
Inability to regulate – their feelings, emotions and responses.
Need to be taught appropriate ways to handle anxiety and frustration.
Food and change – 2 most common causes of escalation in behavior.
Easily over-stimulated.
Varying responses – can destroy property and/or become aggressive.

56. A Life Long Continuum of Challenges for Children and Adults with PWS
SOCIAL SKILL NEEDS
Love to be around others – often exhibit parallel play and interactions.
Many do not do well with winning and losing. Fairness often becomes issue.
Speech, language and behavior often interfere with peer interactions.
Need life long assistance with social skills and interactions.

57. A Life Long Continuum of Challenges for Children and Adults with PWS
Growth Hormone therapy common.
Concerns - lack of pain response, poor temperature control, skin picking, sleep apnea, scoliosis and gastric illness.
The Adolescent
NUTRITIONAL AND HEALTH NEEDS
Food seeking often increases. Environment more challenging to control.
Weight issues more problematic
Require closer supervision.
Exercise remains very important.
Health Concerns: same as school age child. Closer supervision needed to prevent binge eating.

58. A Life Long Continuum of Challenges for Children and Adults with PWS
Common to see onset of hormonal surge with incomplete pubertal changes.
Early growth of pubic and under arm hair common. (Precocious Puberty)
Women may or may not menstruate. Often very irregular. Some have breast development.
Boys may start to have voice change – but not complete. Some have sparse beard growth. Testicles may descend if not surgically done so as infant.

59. A Life Long Continuum of Challenges for Children and Adults with PWS
LEARNING CHALLENGES
Continue to require special education services. Food becomes more challenging - bigger part of environment.
Consistency more difficult – more educators in high school approach. Many require smaller group approach to learning. Self contained classroom most successful.
May see increase in behavior problems.
BEHAVIOR CHALLENGES
Most need greater behavior support.
May be teased more – esp. if weight is an issue.
Food – most common reason for challenging behaviors.
May see lying, stealing … in order to obtain food.

60. A Life Long Continuum of Challenges for Children and Adults with PWS
SOCIAL SKILL NEEDS
Have strong desire to be like peers. Want friends – especially boy/girl friend.
Often lack skills. Can become obsessed with friends, and phone calls.
Receive mixed messages – what they are told they can/cannot do – what they see others doing.
Many are successful in clubs when diet and behavior needs are supported.
Many very curious about sex.
Social “coaching” and close supervision often needed.

61. A Life Long Continuum of Challenges for Children and Adults with PWS
PREPARING FOR ADULT LIFE – INDEPENDENT LIVING AND WORK SKILLS
In order to prevent extraordinary weight gain and life threatening obesity – adults with PWS require support 24-7.
All access to food must be controlled.
Need to learn daily living skills – laundry, cleaning, … Most do not do cooking.
Money skills needed but must be closely supervised.

62. A Life Long Continuum of Challenges for Children and Adults with PWS
Finding a job can be challenging.
Requires detailed attention to all aspects of food – break rooms, vending machines, food culture of work environment.
Needs to be good match for physical capabilities.
Is work consistent? What is anxiety-frustration level?
Requires 1:1 supervision.
Most do well in sheltered work setting where food and behavior concerns can be addressed.
Mixture of community and sheltered setting if possible.

63. A Life Long Continuum of Challenges for Children and Adults with PWS
The Adult with PWS
NUTRITIONAL AND HEALTH NEEDS
Diet, nutrition, weight management – life long needs.
Preventing accesses to food – safe environment; lessens anxiety.
Preventing obesity and its complications. As we age, diabetes can be risk for all.
Health Concerns – greater incidence of orthopedic issues – osteoporosis, fractures, spine problems.
Aging health issues – we are learning about now.

64. A Life Long Continuum of Challenges for Children and Adults with PWS
BEHAVIOR CHALLENGES
Behavior challenges decrease with age. (Dykens, 2004)
Better able to handle change; more mellow.

65. A Life Long Continuum of Challenges for Children and Adults with PWS
SOCIAL RELATIONSHIPS – Dating, Marriage, and Family
Life long desire to date, marry and have children.
Dating opportunities should be facilitated. Need concrete information on dating etiquette and social decision making.
Marriage – financial impact; lack true understanding of marriage and commitment.
Family – hormonal deficiencies may cause sterility. Few cases of women with PWS have conceived and delivered child. Unknown in men.
If sexually active – require instruction on contraception and sexually transmitted diseases.

66. A Life Long Continuum of Challenges for Children and Adults with PWS
INDEPENDENT LIVING
No known cases of adults with PWS successfully living independently without support. When attempted – life threatening obesity has resulted.
Some continue to live at home with parents.
Need support 24-7.
Most can be responsible for care and upkeep of home.
Can and are happy, active, productive members in their communities.
WORK
Life long need for a “food-safe” work environment.
Low frustration, predictable.
Combine sheltered work setting with community-based.
As population ages – will need day programming for elderly.