Prader-Willi Syndrome is a rare genetic disorder that affects various systems within the body, primarily impacting growth, metabolism, cognitive function, and behaviour. It is characterized by a distinct combination of features, including insatiable hunger, developmental delays, and a propensity for obesity.
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Early Stages: Infants with Prader-Willi Syndrome often have low muscle tone, feeding difficulties, and poor weight gain in infancy.
Hyperphagia and Obesity: Characterized by extreme hunger and an insatiable appetite, leading to obesity if not managed.
Cognitive Challenges: Common cognitive impairments and developmental delays, including speech and academic difficulties.
Behavioral Traits: Includes stubbornness, temper outbursts, repetitive behaviors, and obsessive-compulsive tendencies.
Hormonal Imbalances: May involve issues like growth hormone deficiency, delayed puberty, and reproductive challenges.
Prader-Willi Syndrome Causes
Prader-Willi Syndrome arises due to the absence or partial deletion of genetic material on chromosome 15 inherited from the father. This genetic anomaly disrupts the normal functioning of several genes that play essential roles in growth, metabolism, and brain development.
Genetic Testing: DNA methylation analysis confirms genetic anomalies on chromosome 15 associated with Prader-Willi Syndrome.
Prader-Willi Syndrome Management and Treatment
Nutritional Management: Strict dietary regimen with portion control, balanced nutrition, and structured meals to manage appetite and obesity risk.
Hormone Therapy: Growth hormone therapy to address deficiencies and support development.
Behavioral Interventions: Applied behavior analysis (ABA) to manage challenges and teach adaptive skills.
Supportive Environment: Structured, supportive living environment to manage behaviors and promote well-being.
When to see a doctor?
Regular well-baby visits can aid in detecting early signs of poor growth and development, which may indicate Prader-Willi syndrome or other problems.
If you have any worries about your baby's health in between well-baby checks, make an appointment with his or her doctor.
Prader-Willi Syndrome Risk factors
Prader-Willi syndrome is a hereditary disorder caused by a mutation in a set of genes. Chromosomes are the DNA strands found in all of our cells. They contain the genetic information required for our bodies to develop and function properly.
Prader-Willi Syndrome Complications
Obesity is a common complication of Prader-Willi syndrome. Obesity complications may include:
Cardiac (heart) issues.
Diabetes mellitus (type 2).
High blood pressure (hypertension).
Problems with the lungs.
Sleep apnea (pauses in breathing while sleeping).
Obesity is a complicated but treatable disorder. Your child's healthcare practitioner can advise you on ways to help your child and avoid issues.
Do's and Don'ts
Prader-Willi Syndrome Do's and Don'ts: Providing Support and Empathy Caring for someone with Prader-Willi Syndrome demands patience, understanding, and a tailored approach. Here's a guide to help create a supportive environment:
Do's
Don'ts
Establish a structured daily routine.
Avoid unrestricted access to food.
Follow a portion-controlled diet.
Prevent overfeeding due to lack of satiation.
Implement positive behavior strategies.
Don't neglect addressing challenging behaviors.
Encourage regular exercise.
Avoid a sedentary lifestyle.
Ensure proper hydration.
Maintain consistency in routines.
Educate family about challenges.
Prevent unsupervised eating.
Engage in structured activities.
Avoid stigmatizing language or attitudes.
Follow medication regimens.
Don't ignore medical care and consultations.
Foster social connections.
Connect with support groups and networks.
Maintain open communication.
Recognize and nurture individual strengths.
If you have any questions, please fill out the enquiry form or call us, and we will get back to you promptly.
Most cases are not inherited but occur as random genetic events. However, some rare cases can be inherited in an imprinting defect or translocation.
Do individuals with PWS control their appetite?
Individuals with PWS often have insatiable appetites due to hypothalamic dysfunction. Close monitoring of diet and environment is essential.
Is there a cure for Prader-Willi Syndrome?
As of now, there is no cure for PWS. Treatment focuses on managing symptoms through therapy, behavior management, and support.
What are the associated health risks with PWS?
Obesity-related health problems, such as diabetes and sleep apnea, are common. Individuals may also experience skin picking and compulsive behaviors.
Can Prader-Willi Syndrome be detected prenatally?
Prenatal testing, such as amniocentesis or chorionic villus sampling (CVS), can detect PWS in some cases if there is a known family history or suggestive ultrasound findings.
