Summary about Disease
Prader-Willi Syndrome (PWS) is a rare genetic disorder that results in a number of physical, mental, and behavioral problems. A key feature of PWS is a constant sense of hunger, which usually begins around age 2. People with PWS have difficulty controlling their eating and often develop obesity. In addition, the syndrome often causes poor muscle tone, intellectual disability, and delayed development.
Symptoms
Symptoms of PWS vary from person to person, and the severity of symptoms can also vary. Symptoms can be categorized into infancy/early childhood and later childhood/adulthood:
Infancy/Early Childhood:
Poor muscle tone (hypotonia)
Feeding difficulties (weak suck, trouble gaining weight)
Distinct facial features (almond-shaped eyes, narrow forehead, thin upper lip)
Delayed motor development
Poor response to stimuli
Genital hypoplasia (underdeveloped genitals)
Later Childhood/Adulthood:
Insatiable appetite and hyperphagia (overeating)
Obesity
Short stature
Intellectual disability
Behavioral problems (temper tantrums, stubbornness, obsessive-compulsive behaviors, skin picking)
Sleep disturbances (sleep apnea)
Scoliosis (curvature of the spine)
High pain threshold
Causes
Prader-Willi Syndrome is caused by a genetic defect on chromosome 15. In most cases (about 70%), it occurs because a segment of the father's chromosome 15 is missing (deletion). In other cases (about 25%), the person inherits two copies of chromosome 15 from the mother and none from the father (maternal uniparental disomy). Rarely, the syndrome is caused by a mutation or another abnormality in the imprinted region of chromosome 15 inherited from the father. The specific gene or genes responsible for PWS are not fully understood.
Medicine Used
4. Medicine used There is no cure for Prader-Willi Syndrome, but treatment focuses on managing symptoms. Medications commonly used include:
Growth Hormone: To increase height, improve muscle mass, and decrease body fat.
Sex Hormones (Testosterone or Estrogen/Progesterone): To address hormone deficiencies, improve bone density, and promote development of secondary sexual characteristics.
Psychiatric Medications: To manage behavioral problems such as anxiety, depression, obsessive-compulsive behaviors, and psychosis. Examples include Selective Serotonin Reuptake Inhibitors (SSRIs) and antipsychotics.
Appetite Suppressants: While controversial due to potential side effects, some medications may be used in select cases to help control appetite, but must be carefully monitored.
Is Communicable
No, Prader-Willi Syndrome is not communicable. It is a genetic disorder, not an infectious disease.
Precautions
Precautions for managing Prader-Willi Syndrome are primarily focused on managing the complications associated with the condition:
Strict Dietary Control: This is critical to prevent obesity. Locked cabinets, limited access to food, and careful monitoring of food intake are often necessary.
Regular Exercise: Encourage physical activity to improve muscle tone, burn calories, and promote overall health.
Behavioral Therapy: Addressing behavioral issues through therapy and structured routines.
Sleep Studies: Monitor for sleep apnea and treat accordingly (e.g., CPAP machine).
Regular Medical Checkups: Monitor for scoliosis, diabetes, and other potential health problems.
Secure Environment: Individuals with PWS may not understand risks well and may need a safe and monitored environment.
How long does an outbreak last?
Prader-Willi Syndrome is not an outbreak; it is a lifelong genetic condition. There is no "outbreak" of PWS. The symptoms are chronic and require ongoing management throughout the individual's life.
How is it diagnosed?
Diagnosis is typically made through genetic testing:
DNA Methylation Testing: This is the most common test. It detects abnormal methylation patterns on chromosome 15, which are characteristic of PWS.
Fluorescence In Situ Hybridization (FISH): This test can detect deletions on chromosome 15.
Chromosome Microarray Analysis (CMA): Can identify deletions and duplications of chromosomal segments.
Uniparental Disomy Testing: Tests to see if both copies of chromosome 15 came from the mother.
Clinical Evaluation: Observation of symptoms, especially hypotonia in infancy followed by hyperphagia in early childhood.
Timeline of Symptoms
9. Timeline of symptoms
Infancy (0-12 months):
Hypotonia (poor muscle tone)
Weak suck and feeding difficulties
Failure to thrive
Lethargy/poor response to stimuli
Distinct facial features (may be subtle)
Early Childhood (1-6 years):
Appetite increases significantly (hyperphagia)
Rapid weight gain
Developmental delays become more apparent
Speech delays
Behavioral problems start to emerge
Childhood/Adolescence (6+ years):
Obesity (if diet is not controlled)
Short stature
Intellectual disability becomes more evident
Behavioral issues (temper tantrums, stubbornness, skin picking) persist
Pubertal delays/incomplete puberty
Scoliosis may develop
Adulthood:
Ongoing management of weight, behavior, and other health problems
Increased risk of diabetes, sleep apnea, and other complications
Important Considerations
Early diagnosis and intervention are crucial to managing the symptoms and improving the quality of life for individuals with PWS.
A multidisciplinary approach is necessary, involving pediatricians, geneticists, endocrinologists, nutritionists, behavioral therapists, and other specialists.
Parental/caregiver support and education are essential for effective management of the condition.
Lifelong monitoring and support are needed to address the evolving needs of individuals with PWS.
Food security is a major concern and families should receive guidance and support in this area.
Genetic Counseling is recommended for families with a child diagnosed with PWS.