Conditions Prader-Willis Syndrome Flashcards
Definition
lifelong, life-threatening, non-inherited genetic disorder that results from a defect on chromosome 15
occurs in 1 in 15000 live birth; equally affects all races and both sexes
Classic signs
moderate MR
extreme food seeking behavior (hyperphagia)
severe obesity, short stature, decreased muscle tone, a long face and slanted eyes, poor thermal regulation and underdeveloped sex organs
2 stage disorder
STAGE 1
Stage 1 – Infancy Stage
Pregnancies –very little fetal activity
Low birth weight and subsequent failure to thrive; babies are born very small with an average birth weight of six pounds
Normal size hands and feet
Unusual crying and head and face features
Severe muscle weakness (hypotonia), excessive sleepiness
Suck/swallow problems, reflux, respiratory problems, exhibit poor nutrition
Subtle dysmorphic facial features such as “triangle” shaped mouth, narrow forehead, almond-shaped eyes
Underdeveloped sexual organs
Delayed motor/physical milestones
STAGE 2
Stage 2 – Childhood Stage
Around the age of six months, feeding improves
Between ages 2-6, hyperphagia symptoms begin with a preoccupation with food and/or compulsion to eat
Voracious appetite begins as brain does not receive/process signals of feeling “full”
Slow metabolic rate causes rapid weight gain
Low energy level makes it difficult to exercise
Emotional/ behavioral problems
Noticeable difference in the size of the hands and feet —small hand and/or feet
Craniofacial features become very noticeable
almond shaped eyes, narrow bifrontal diameter (forehead), and full cheeks
Severe skin picking obsession and often have scars as adults
PHYSIOLOGICAL CHARACTERISTICS
- Hyperphagia (extreme unsatisfied drive to consume food)- Dysfunctional Appetite Regulating System— lasts throughout the lifetime
- Hypotonia - Weak Muscle Tone
- Abnormal Growth (short stature, small hands & feet)
- Problems with Strength, Balance, Coordination, Motor Planning
- Respiratory Issues
- Gastrointerological Issues–Gastroparesis, Slow Bowel Motility, Inability to Vomit
- Hyper- & Hypothermia - Irregularities in Body Temperature Regulating Systems
- Incomplete Sexual Development
- Hypopigmentation (loss of skin color)
- High Pain Threshold, Bruise Easily
HYPOTHALAMUS AND PITUITARY GLAND DO NOT FUNCTION PROPERLY. THESE ARE A FEW OF THE PROBLEMS
Abnormal growth – Insufficient HGH results in short stature, small hands & feet, narrow forehead, subtle dysmorphic facial features, decreased muscle tone resulting in decreased strength, decreased respiratory function, decreased bone density
Hyperphagia – Results from flawed part of brain (hypothalamus) that regulates hunger, satiety, and manages body’s metabolic rate. People with PWS always feel hungry and/or brain obsesses on food at the same time their body’s metabolic system is slowed. Weight gain on considerably small calories.
Cognitive limitations – IQs range from 40 to above 100. 95% function in mildly mentally retarded range, independent of IQ testing. Most LD.
Speech – Low muscle tone causes dysarthria in some, but most have dyspraxic speech.
Dental – Decreased saliva production causes dry mouth, thick, sticky saliva, cavities, decayed teeth, teeth grinding, bad breath, etc. OTC dry mouth products help.
High Pain Threshold & Irregular Body Temp Reg – Blunted sensory integration systems and temp relate to defect in hypothalamus.
Skin Picking – Factor of blunted sensory system and obsessive features typical of syndrome
Incomplete sex development – Babies typically born with small genitalia; male babies undescended testes. Most do not progress thru puberty w/o sex hormone therapy (testosterone or estrogen).
Respiratory Issues – Related to lung muscle strength and CNS. Common, including sleep apnea, hypopnea, central sleep apnea. Cause excessive daytime sleepiness which can increase irritability and exacerbate behavior problems.
Temperament and behavior – Young children typically loving, happy, compliant. Subtle changes occur making child more easily frustrated, prone to mood swings, temper tantrums, stubbornness, rigidity, argumentativeness, repetitive thoughts and behaviors (OCD). Increase in rate of psychiatric problems.
Social / Psychological Problems – Difficulties with social skills acquisition may lead to social isolation. Individuals with higher level cognitive functioning more prone to depression as more aware of differences and limitations. Counseling and meds helpful to reduce depression.
Cognitive characteristics
Most individuals with PWS have decreased intellectual functioning. Average IQ typically 55-70. Distribution generally 5% IQ 85+; 25% Borderline MR; 35% Mild MR; 25% Moderate MR; 25% Moderate MR; 5% Severe MR.
Decreased abilities in:
Picture recognition
Mathematics
Short-term memory
Daily living skills despite IQ
Areas of Strength:
Friendliness, affectionate, desire to please, desire to nurture
Long-term memory
Recognize and evaluate shapes and figures
Integrate stimuli in spatial relationship
Puzzle solving
Treatment & management Strategies
- *Early Dx** – DNA Methylation testing is now widely used to identify all possible genetic defects on chromosome 15 that are believed to cause the syndrome. Early dx gives parents the opportunity to begin appropriate interventions and therapies as early as possible including proper nutritional intake to avoid obesity from the start, growth hormone tx, occupational, physical, speech, social skills, sensory integration therapy, and sex hormone therapy, and establish good, consistent parenting routines.
- *GH Therapy-** Probably the single most important advancement in the tx of PWS in the last 50 years, synthetic HGH is recognized worldwide by the leading PWS researchers as tx protocol for PWS. Improves linear growth in children, increased muscle development, decreased body fat, improved body composition, increased bone mineral density, improved physical performance, improved respiratory function, and newer studies suggest improvements in cognitive function.
- *Weight Control & Exercise** – The hallmark symptom of PWS is hyperphagia. No medication helpful with this symptom – yet. Important to provide necessary nutrients while restricting calories. Access to food must be limited. Exercise programs made fun must begin early. Weight management vital. Locks on cupboards and frig necessary often.
- *Behavior Management** – Behavior management crucial for both weight and behavior problems. Behavior Mod should be prevention oriented. Provide daily routines, structure, firm limits, anticipate problems, avoid arguments. Address underlying anxiety issues which contribute to behavior problems. Provide medications for psychiatric issues if appropriate, esp. SSRIs.
- *Special Education** – Most individuals will require special education services. Federal law provides for these services to include special instruction, speech therapy, OT, PT, psychological testing, counseling, and social skills therapy.
OT treatment and management strategies
- Physical, Occupational, Sensory Integration Therapy, Oral Motor/Speech & Language Therapy, Social Skills Therapy
- Ongoing family education on the syndrome, along with treatment and management strategies
- Help family members manage high and chronic levels of stress, chronic grief, sibling issues, extended family support
- Oral Hygiene products designed to relieve dry mouth symptoms
- Weight Management Strategies, including restricted calorie diet, 24/7 environmental controls
- Exercise
