Issues in Developmental Disabilities Prader Willi Syndrome Lecture Presenter: Barb Dorn, RN, BSN PWS...

Issues in Developmental Disabilities

Prader Willi Syndrome

Lecture Presenter:

Barb Dorn, RN, BSNPWS Consultant, PWSA of WI, Inc.

Crisis Intervention Counselor, PWSA

Prader-Willi Syndrome Is About … PEOPLE

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.

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.

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.

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.

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

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.

Hypotonia - Poor Muscle Tone

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.

• 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

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

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.

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

Genetic Forms of Prader-Willi Syndrome

The HYPOTHALAMUS

Its Influence on Prader-Willi Syndrome

Hypothalamus

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

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.


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.

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.


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.

The Impact of the Diagnosis and Disability on the Family and

Person with Prader-Willi Syndrome

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

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.

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.

Impact on Grandparents

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

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.

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.

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.

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.

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.

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.

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.

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.

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.


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.

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

Health Issues and Concerns 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.

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.


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.


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.

Hope for the Future

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.

The Larson's - A Special Family

Alex and Mathew – Special Brothers

A Life Long Continuum: Challenges for Children and

Adults with Prader-Willi Syndrome

Many require special feedings into a gastrostomy tube placed in the abdomen. Monitoring weight becomes a life long task.

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.


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.


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.


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.


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.


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.


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.

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.


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.


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.

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.


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.


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.


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.


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.


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.


BEHAVIOR CHALLENGES Behavior challenges

decrease with age. (Dykens, 2004)

Better able to handle change; more mellow.


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.

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.

Issues in Developmental Disabilities Prader Willi Syndrome Lecture Presenter: Barb Dorn, RN, BSN PWS...

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