WHAT IS PWS
PRADER-WILLI SYNDROME
Prader-Willi Syndrome (PWS) is a complex genetic neurological birth disorder which can be life-threatening. The condition leads to a number of physical, mental and behavioural problems. It occurs when there is a missing or damaged piece of genetic material on the 15th chromosome, specifically on the paternal side. The most concerning and challenging feature is constant insatiable hunger which leads to obesity and other life threatening chronic conditions. PWS has an incidence of approximately 1 in 15,000 births, however, the exact number of individuals affected in India is not known due to lack of database.
3 TYPES OF PWS
1. Deletion: This is the most common type of PWS, accounting for about 70% of cases. It occurs when part of chromosome 15 that contains the PWS genes is deleted.
2. Uniparental Disomy: This type of PWS occurs when an individual inherits two copies of chromosome 15 from one parent and none from the other parent.
3. Imprinting Defect: This type of PWS occurs when the PWS genes on the chromosome 15 inherited from the father are not expressed due to an abnormality in the imprinting process
STAGES
The INFANT with PWS is typically born hypotonic and experiences “failure to thrive”. Their low muscle tone impairs their sucking ability and many require special feeding techniques for several weeks/months after birth.
The TODDLER requires intervention in various therapies like speech, physical & occupational in order to achieve their milestones. They develop an intense interest in food and can quickly gain excess weight if calories are not restricted. Exercise or physical fitness programmes must begin soon after the child achieves their milestones.
The ADOLESCENT can have a continuous urge to eat which they cannot control. To compound this PWS patients have lesser biological need for food than their peers since their bodies have slower metabolism. They require constant supervision, emotional, behavioural, diet counselling, special education, regular health check-ups, and hormone replacement therapies.
The PWS ADULT is unable to live an independent life, largely due to hyperphagia and behaviour issues. It is best to keep them engaged with various activities and regular Exercises. Weight management should be individualized and include weekly weigh-ins. Continued mentoring to achieve their goals, avoid obesity and the serious health
Consequences that accompany it. Even those with IQs in the normal range need lifelong supervision and protection from food availability such as locking the kitchen and limited or no access to money.
TREATMENT
There is currently no cure for Prader-Willi syndrome, nor is there a drug that can be prescribed to alleviate all of the symptoms
1. Early diagnosis of the genetic defect can ease out the future complexities & medical awareness amongst Indian population
2. Growth hormone replacement therapy can very positively affect growth, body composition and activity level in people with PWS. In addition to these positive effects on growth and body composition, studies suggest positive effects on development and behaviour.
3. Recurring investment at pulmonary level with sleep study, close eye on increase in the tonsils or adenoid glands reduces the risk of pulmonary failure
4. The adolescent can have a continuous urge to eat which they cannot control, called hyperphagia, which results in the increase in body weight. Controlled lifestyle and diet can reduce the risk of obesity.
5. PWS patients tend to have obsessive/compulsive behaviours such as repetitive thoughts & verbalizations, collecting & hoarding of possessions, picking at skin irritations and a strong need for routine and predictability. To cope up with these challenges regular sessions with therapist (physiotherapy, psychologist and occupational therapy) should be mandatory
