Prader-Willi Syndrome

Our bodies are made up of trillions of cells.

In each cell, there are tiny structures called “Chromosomes”.

 Most of us receive 23 chromosomes from our mother, known as the maternal copy, and 23 chromosomes from our father, known as the paternal copy (46 in total).

 Each chromosome is made up of many genes. Genes carry information that make you into who you are and what you look like.  

When someone is diagnosed with Prader-Willi Syndrome, it means there’s an issue with several genes of chromosome 15.

 Issues with chromosome 15 are believed to affect a part of the brain called the Hypothalamus. The Hypothalamus is responsible for producing hormones and regulating growth and appetite.

There are 3 types of Prader-Willi Syndrome:

1. Deletion: This means there are missing sections of the paternal copy of chromosome 15.

2. Maternal Uniparental Disomy: This means the person has 2 maternal copies of chromosome 15, and no paternal copy.

3. Imprinting Defect: This means that the genes in the paternal copy of chromosome 15 do not work properly. 

Prader-Willi Syndrome involves a wide range of symptoms and severities which means that every person will present differently.

Symptoms in babies and toddlers can include:

• Low body weight at birth

• Difficulty feeding

• A weak cry

• Delayed development

  •  Not sitting, crawling, walking, or talking

Symptoms in children and adults can include:

• Hyperphagia (an intense feeling of always being hungry)

• Having an Intellectual disability

• Having a Mental Health disorder

  •  Anxiety

  •  Bi-Polar

  •  Episodes of Psychosis

• Physical features

  • Fair skin

  •  Blonde hair

  •  Almond-shaped eyes

  •  Blue eyes

  •  Small hands and feet

  •  Short height

• Hypotonia (low muscle tone)

• Underdeveloped genitals

• Delayed start for puberty

• Delayed or no menstrual periods in females

• Obesity

• Slower metabolism 

• Behavioural problems

  •  Emotional outbursts

  •  Obsessive or compulsive behaviours such as skin picking

  •  Anti-social

• High pain threshold

• Speech difficulties

• Osteoporosis (weak bones)

• Scoliosis (curved spine)

• Kyphosis (hump in the spine)

• Sleep difficulties

• Gastric complications such as constipation and poor digestion

• Problems with eyesight

• Difficulty with controlling body temperature

Prader-Willi Syndrome happens randomly and there is no research to explain why someone is born with changes to the genes in chromosome 15.

Prader-Willi Syndrome can be diagnosed after birth with a blood test.

While there is no cure for Prader-Willi Syndrome, diagnosis and specifically tailored treatment are important for improving quality of life.

Services available to help with Prader-Willi Syndrome include:

Dietician: A Dietician can help create individualised diet plans. 

Paediatrician: A Paediatrician can provide hormone treatment for growth and muscle development, and also help to treat and provide routine childhood care.

Psychology: A Psychologist can help to develop emotion regulation skills.

Positive Behaviour Support: A Behaviour Support Practitioner can help to understand behaviours of concern, provide strategies, and build skills.

Occupational Therapy: An Occupational Therapist can support independence and participation in daily life.

Speech Pathology: A Speech Pathologist will focus on developing communication skills.

1. Prader-Willi Syndrome was first described in 1956 by Swiss doctors Andrea Prader, Alexis Labhart, and Heinrich Willi.

2. Prader-Willi Syndrome affects 1 in every 15,000 births in Australia

3. Prader-Willi Syndrome is the most common genetic cause of obesity.

Better Health

https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/prader-willi-syndrome

Cleveland Clinic

https://my.clevelandclinic.org/health/diseases/21016-prader-willi-syndrome

Foundation for Prader-Willi Research

https://www.fpwr.org/what-is-prader-willi-syndrome

Health Direct

https://www.healthdirect.gov.au/prader-willi-syndrome 

International Prader-Willi Syndrome Organisation

https://ipwso.org/

Mayo Clinic

https://www.mayoclinic.org/diseases-conditions/prader-willi-syndrome/symptoms-causes/syc-20355997

National Health Service

https://www.nhs.uk/conditions/prader-willi-syndrome/

National Library of Medicine

https://www.ncbi.nlm.nih.gov/books/NBK1330/

https://pmc.ncbi.nlm.nih.gov/articles/PMC5459598/ 

National Organisation of Rare Disorders

https://rarediseases.org/rare-diseases/prader-willi-syndrome/

Nemours Kids Health

https://kidshealth.org/en/kids/what-is-gene.html#:~:text=They%20carry%20information%20that%20makes%20you%20who,even%20how%20you%20might%20smile%20or%20laugh.&text=Genes%20carry%20the%20information%20that%20determines%20your,%E2%80%94%20or%20inherited%20%E2%80%94%20from%20your%20parents.

Prader-Willi Syndrome Admission

https://pws.org.au/wp-content/uploads/2024/01/Recommended-Hospital-Admission-Policy.pdf

Prader-Willi Syndrome Association

https://www.pws.org.nz/wp-content/uploads/2018/06/Hypothermia-an-overview.pdf 

Prader-Willi Syndrome Association of Victoria

https://pwsavic.org.au/information/what-is-prader-willi-syndrome/ 

Prader-Willi Syndrome Australia

https://pws.org.au/

Prader-Willi Research Foundation Australia

https://praderwilli.org.au/prader-willi

Royal Australian College of General Practitioners

https://www.racgp.org.au/getattachment/7740b072-a106-44e7-a239-99a2ce40e1d3/Prader-Willi-syndrome.aspx