What is Prader-Willi Syndrome?

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.

---

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.

Prader-Willi Syndrome Symptoms

Early Stages

Infants with Prader-Willi Syndrome frequently have low muscle tone (hypotonia), eating difficulties, and poor weight gain during their first year of life.

Hyperphagia and Obesity

One of the hallmark features of Prader-Willi Syndrome is the development of extreme hunger and an insatiable appetite, leading to a propensity for obesity if not carefully managed.

Cognitive Challenges

Individuals with Prader-Willi Syndrome commonly face varying cognitive impairments and developmental delays. Challenges in speech, language, and academic skills are common.

Behavioral Traits

Behavioural issues such as stubbornness, temper outbursts, repetitive behaviours, and obsessive-compulsive tendencies can manifest during childhood and adolescence.

Hormonal Imbalances

Individuals with Prader-Willi Syndrome may experience hormonal imbalances, including growth hormone deficiency, delayed puberty, and reproductive issues.

---

Prader-Willi Syndrome Diagnosis

Clinical Assessment

Diagnosing Prader-Willi Syndrome involves evaluating physical features, growth patterns, developmental milestones, and behavioural traits.

Genetic Testing

Genetic testing, such as DNA methylation analysis, can confirm the presence of the genetic anomalies on chromosome 15 associated with Prader-Willi Syndrome.

---

Prader-Willi Syndrome Management and Treatment

Nutritional Management

Managing the insatiable appetite and obesity risk requires a strict dietary regimen that focuses on portion control, balanced nutrition, and a structured meal plan.

Hormone Therapy

Growth hormone therapy often addresses growth hormone deficiency and supports growth and development.

Behavioural Interventions

Behavioural therapies, including applied behaviour analysis (ABA), can help manage behavioural challenges and teach adaptive skills.

Supportive Environment

Creating a structured and supportive living environment is crucial to managing behaviours and promoting overall 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:

---

Prader-Willi Syndrome Treatment At Medicover Hospitals

Medicover Hospitals is committed to delivering comprehensive medical care in a variety of disciplines, including rare and severe disorders like Prader-Willi Syndrome. pediatrics at Medicover Hospitals provides specialised care and support for people with Prader-Willi Syndrome through a team of highly qualified medical professionals, cutting-edge facilities, and a patient-centred approach

---