PRADER-WILLI SYNDROME

Presented by:

The Prader-Willi Syndrome Project

for New Mexico

HISTORY

1956 3 Doctors from

Switzerland

A syndrome is a set of

characteristics

Incidence Rate:

1:12-15,000 live births

GENETICS15th chromosome from

father Paternal Deletion

A band of genes 15q11-q13 is missing from the 15th chromosome coming from the father

75% of people with PWS

Maternal Dysomy the genetic material

on the mother’s 15th chromosome duplicates onto the father’s chromosome

25% of people with PWS

INHERITED PWS

• Incidence – less than 1/10 of 1%

• Mutation on father’s 15th chromosome

• Child can inherit the mutation

• Mosaic PWS

MORE ON GENETICS

• In Paternal Deletion there can be micro and macro deletions

• Deletions may be influencing the other genes on chromosome 15

• Genes on chromosome 15 may be influencing a tendency toward depression and bi-polar disorders

AND MORE

• In Maternal Dysomy the child receives a “double dose” of the mother’s genetic inheritance residing on chromosome 15

• Angelman’s Syndrome is a mirror image of PWS where deletions and duplications occur on the mother’s 15 chromosome - manifests as a different syndrome

• Genetic research continues including treatment with gene therapy

DIAGNOSIS

• PWS can now be diagnosed with a blood test called a protein mythelation assay.

• Results can be obtained in a couple of weeks.

• Test is 99% accurate.

HYPOTHALAMUS

Regulates Regulates

Body Secretion

Processes of

& Hormones

Functions

HYPOTONIA

. Delayed fetal movement

. Weak cry & lethargy

. Feeding difficulties

. Delayed motor skills

. Speech difficulties

. Scoliosis/Hip Dysplasia

. Myopia/Strabismus

. Unbalanced , uncoordinated gait

HYPOTONIAChildren

• Orthopedic evaluation• Strabismus sometimes

requiring surgery• Vision screening• Monitoring for

scoliosis (surgery)• Monitoring for hip

dysplasia (surgery)

HYPOTONIA & OBESITY

• The complications of morbid obesity (30% or more overweight) happen sooner for persons with PWS because of the hypotonia

HYPOGONADISM

• Small genitals

• Low levels of sexual hormone

• Incomplete puberty due to hypothalamus not triggering the pituitary gland

• Risk for premature osteoporosis

• Low levels of Growth Hormone

MALE HYPOGONADISM

• Undescended testes• Small penis• Lack of growth spurt• Lack of secondary

sexual characteristics• Infertility usual

FEMALE HYPOGONADISM

• Small genitalia• Absent/irregular

menses• Lack of growth spurt• Lack of secondary

sexual characteristics• Infertility usual

HYPOMENTIA

• All have Learning Disabilities

• Mental Retardation

• IQ scores range from 35-110, most testing around 70

HYPOMENTIACognitive Strengths

• Fine Motor Skills

• Long Term Memory

• Visual Perceptional Skills

• Verbal Skills/Receptive Language

• Artistic Abilities

HYPOMENTIACognitive Challenges

• Abstract/Conceptual Thinking

• Auditory Short Term Memory

• Loss of Learned Information

• Set of Specific Learning Disabilities

. Sequencing . Generalizing

. Social Context . Meta-Cognition

LYING & PWS

• Lying to get out of trouble

• Lying to manipulate • Confabulations – the

telling of tall tales for no apparent reason

• Type of lying determines the response

BEST PRACTICES FOR THE CLASSROOM

• Structure & consistency – is essential for management of PWS & needs to be visually presented

• Activities – a full day moving from one to another with no “hanging out”

• Individual attention – as much as possible• Positive reinforcement – as much as possible• Peer relationships – need to be encouraged• Visual learners

MORE BEST PRACTICES

• Some children with PWS are easily over- stimulated and have short attention spans – may need to make environmental accommodations

• Concrete, hands-on learning style – learn by doing• Need to be weighed and measured weekly, same

time and same scale • Therapies – often OT, SLP and PT

HYPERPHAGIA the food problem

• Non-functioning Hypothalamus• No feeling of fullness – satiety• Always feeling hungry – insatiable appetite• Slower metabolism – up to 1/3 slower• Gain weight 3 times faster; need 1/3 fewer calories• Can’t raise basal metabolic rate – little weight loss

with exercise• Too much adipose tissue and not enough lean

muscle mass – making them feel “mushy”

FOOD SEEKING

• Incessant hunger makes person constantly think about food and how to get it

• Body thinks it’s starving – survival instinct is stuck on ON

• Person does whatever they have to do to obtain food

• Out of their control – like you holding your breath and then body takes over and breathes for you

FOOD SEEKING AT SCHOOL

• Should be expected• Most of it is opportunistic – result of failure

of caretakers to follow rules• Forgive yourself & start again• Successful food stealing encourages food

seeking• If occurring weekly, food security not

established

FOOD STEALING

• Ask for food – do not take it – let family know if child chooses to eat it

• Establish consequence ahead of time – may require searches

• Respond matter- of-factly

• Do not be angry, lecture or apologize

• Once it’s over, it’s over

DANGERS OF MORBID OBESITY

• Cardio-pulmonary Disease

• Hypertension• Obstructive Sleep

Apnea• Pickwickean

Syndrome• Incontinence

• Type II Diabetes – as early as 6 years old

• Edema• Skin sores• Yeast Infections• Inability to walk• Right side heart failure

MORBID OBESITY

MORBID OBESITYMedical Implications

• Growth charts with children• Regular weighing • Pulmonary functioning exams sometimes leading

to sleep studies• Regular screening for Type II diabetes• Echocardiograms- right side heart

failure• Care of skin and effects of self-abuse

DIETARY MANAGEMENT

• Supervision around food & no food around

• Modified lunch menus

• No money at school

• Pre-plan parties & treats – do not exclude

• Watch for food trading & the generosity of children

SECONDARY MANIFESTATIONS

• Almond-shaped eyes• Tented upper lip• Narrow temples• Narrow jaw• Larger space between

nose and mouth• Straight ulnar border

• Smaller hands & feet• “Pear-shaped”torso• Short stature• Hypo pigmentation• Thicker saliva leading

to dental problems

FACIAL FEATURES

BODY FEATURES

HYPOTHALAMUS DYSFUNCTION

• Brain arousal

• Internal body temperature

• High pain tolerance

• Difficulty with or inability to vomit

• Reactions to medications is different

• Symptoms of illness

EXPERIENCE OF ILLNESS

• The body registers the pain or illness but the mind does not perceive it

• The person acts out the pain or illness

. Disorientation .Vomiting

. Confusion . Memory loss

. Fatigue . Odd behaviors

. Loss of appetite . Loss of interest

RECENT MEDICAL ISSUES

• Gorging• Water Intoxication• Rectal Digging• Hernias• Gastro-Intestinal

Complaints• Aspiration• Thyroid Problems• Acute Idiopathic Gastric

Dilation

CHECK THE BODY FIRSTINTERNALLY

• X-RAYS

• ULTRASOUNDS

• LAB WORK

THE HYPOTHALAMUS&

EMOTIONS

• Mood Swings

• Disproportionate emotional responses

• Temper tantrums

• Longer calming time

• Clinical depression

• Psychosis

THE HYPOTHALAMUS&

BEHAVIOR• Obsessive/compulsive

• Inflexibility

• Perseveration

• Stubbornness

• Hoarding

• Aggression/violence

• Self-trauma

STRESS & BEHAVIOR

• Due to genetic reality people with PWS more vulnerable to stress

• PWS itself is a stressor• Access to food and food itself is a stressor• Too much independence can be a stressor• Crisis for persons with PWS is the conflict

between environment and their personalities and coping mechanisms

STRESS, BEHAVIOR & FOOD

• Lack of food security = Hope = Disappointment = Stress = Behaviors

• Food security = No hope = No disappointment = No stress = No behaviors

DEVELOPMENTAL DELAYS

AND BEHAVIOR• Delay at the

narcissistic stage of development – around 3 years of age

• Delay at around 12 years of age in judgment

BEHAVIOR APPROACH

• Look at underlying stressors not each individual behavior

• Often stressors can be modified with environmental modifications

• Reduction of stressors often leads to diminishment of behaviors without the need for medication

A WAY OF LOOKING AT BEHAVIOR

When behaviors occur look at:

1. Physical illness

2. Stressors

3. Medications – SSRI’s can trigger the mood instability

3 MAIN WAYS TO MANAGE PWS BEHAVIORS

• STRUCTURE

• CONSISTENCY

• PREDICTABILITY

THE THERAPEUTIC MILIEU

• Structured daily plan• Rules• Reward Management

System• Consequence System

• Environmental Controls

• Communication• Staff Supervision• Food Security

REWARD MANAGEMENT SYSTEM

• Defined system of daily rewards & weekly reinforcers• Visual reminders – point sheet or chart• Reinforcers must be varied & interesting to the person• Individual needs to be involved in choosing reinforcers• Frequent random praise• Data sheets to document progress

BEHAVIOR CONTRACTS

• Identify target behaviors – around 3 or 4• Write out what is expected• Write out consequence• Have person & team sign contract• Give points on a set time frame for absence

of target behaviors – differential reinforcement

• Points translate into tokens

CONSEQUENCE SYSTEM

• Defined system of consequence – initially thoroughly presented to person & then given low attention

• Consequences given non-confrontationally

• Not to be used as a threat

• Must be consistently enforced and cannot be changed arbitrarily

INTERVENTIONS

• Must have pre-planned interventions for the following PWS possibilities:

. Elopement – running away

. Removal to a quiet place to calm

. Ability to have person remain in quiet

place until they do calm down

. Physical aggression against self or

others requiring an intervention

FOOD SECURITY

• All elements of meals need to be set in advance

• No arbitrary changes

• Planned & posted menus

• Limit discussion about food –

DON’T ARGUE

• All staff trained on diet

SUGGESTED INTERVENTIONS FOR

PWS BEHAVIOR• Stubborn Opposition

• Negativism, Arguing, Defiance

• Perseveration

• Temper Tantrums

• Intermittent Explosiveness

• Physical aggression

• Skin Picking

STUBBORN OPPOSITION

• Planned ignoring of harmless negativity and opposition – wait it out

• Give praise immediately for positive behaviors as soon as exhibited

• Do not comfort or cajole

• Briefly restate request and then stop talking

• Remain neutral

NEGATIVISIM, ARGUING & DEFIANCE

• Use prearranged prompts & cues• Use low attention & redirection• Do not continue to respond back• Do not engage in arguing, simply restate the

rule or expectation• Let the person have the last word• Show with your demeanor that you are calm

and not going to change your mind.

PERSEVERATION

• Planned ignoring – answer question once or explain once then STOP – to continue will give negative attention & reinforcement

• Redirection – if person is truly stuck, reduce stimulus in environment & try to redirect

• Give praise as soon as topic of perseveration changes

TEMPER TANTURMS

• Control physical environment to ensure safety

• Ignore behavior completely if actions not immediately dangerous

• Give mild & neutral praise when person is calm and move on

PHYSICAL AGGRESSION

• Control environment – remove objects that might be thrown; secure exits if person elopes

• Give verbal prompts to calm

• Intervene physically if there is imminent

danger to person or others

SKIN PICKING

• Low attention; Redirection• Do not punish – must live with natural consequences• Make a contract about picking . Take a picture of lesion . Put antibiotic on wound 4 or more times a day . Establish a small reward for healing – reward the healing, rather than the not picking . Expect picking at a new area

WELL MANAGED PWS

ANOTHER

A BABY

AND TWO OTHERS

OUT & ABOUT

AT THE PROM