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 110,000-15,000 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.
• 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 fathers chromosome 15.

11
Genetic Forms of Prader-Willi Syndrome

• Paternal Deletion
• Approximately 70 cases. Most common.
• Part of chromosome 15 inherited from childs
  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.
• Fathers 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
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 11 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 drivers
  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 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.

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 www.fpwr.org

• INTERNATIONALLY
• International Prader-Willi Syndrome Organisation
• Provides information and support around the
  world.
• Website www.ipwso.org
• 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 www.fpwr.org

• INTERNATIONALLY
• International Prader-Willi Syndrome Organisation
• Provides information and support around the
  world.
• Website www.ipwso.org
• 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 11 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.