What is Prader Willi syndrome? It is basically a rare genetic disorder that causes various physical, mental and behavioral problems. Prader Willi syndrome is mostly characterised by a sense of hunger that starts at around 2 years of age. Patients who have Prader-Willi syndrome feel the need to eat continuously because they are always hungry never feel full. Therefore, these people face problems in controlling their weight. Most of the complications of Prader-Willi syndrome are because of obesity.
Patients with Prader-Willi syndrome get affected genetically causing obesity, intellectual impairment and shortness in height. There is a requirement of a number of specialists to work together to manage the symptoms of this complex disorder. Onlymyhealth editorial team spoke to Dr. Vivek Bindal Associate Director & Head– Max Institute of Minimal Access, Bariatric & Robotic Surgery, Max Super Speciality Hospital, Vaishali, at a press conference, to know more about Prader Willi Syndrome.
Prader Willi syndrome symptoms
Patients usually experience symptoms like behavioural issues, intellectual disability, short height, delayed puberty, and a constant sense of hunger that leads to obesity. According to Dr. Vivek, here are the main symptoms of Prader Willi syndrome:
1. Sense of hunger causing weight gain
Weight gain is not a direct symptom of Prader Willi syndrome, but the weight gets affected due to constant and uncontrollable sense of hunger. It is one of the main symptoms of this genetic disorder. The sense of hunger usually begins at around 2 years of age.
2. Slow physical development and poor motor skills
Prader Willi syndrome also causes weak muscles and lack of sexual development. Along with sleep abnormalities, there is a delayed physical, motor and mental development. This symptom can be managed by various therapies from experts.
3. Sleep disorders
Children who have PWS are at a higher risk of obstructive sleep apnea. Difficulty in breathing while sleeping is a common problem in kids with Prader Willi syndrome. There is a need of proper clinical evaluation and assessment the upper airway and lung function.
4. Behavioural issues
The common behavioural problems in kids with PWS include skin picking, mood swings, temper tantrums and compulsive behaviours. These issues can be managed with the help of a psychiatrist and behaviour therapy.
Prader Willi syndrome causes
Prader-Willi syndrome is a genetic disorder usually caused by deletion of a part of chromosome 15. Prader-Willi syndrome occurs because certain paternal genes that should be expressed are not due to certain reasons. In Prader-Willi syndrome, a defect on chromosome 15 disrupts the normal functions of a portion of the brain called the hypothalamus, which controls the release of hormones. In most cases, Prader-Willi syndrome is caused by a random genetic error and is not inherited.
Prader Willi syndrome diagnosis and treatment
Doctors suspect Prader-Willi syndrome based on signs and symptoms. A definitive diagnosis can almost always be made through a blood test. This genetic testing can identify abnormalities in your child's chromosomes that indicate Prader-Willi syndrome. While there is no cure for Prader-Willi syndrome many patients will benefit from a modified diet pattern. The treatment option depends on symptoms and their severity. From weight gain to behavioural problems, there are several therapies and managerial methods that can help in such situations, which includes:
- Good nutrition
- Growth hormone therapy
- Physical and speech therapies
- Weight management
- Regular daily activity
These were the symptoms, causes, diagnosis and treatment for Prader Willi syndrome by Dr. Vivek Bindal. If you see your infant having the above listed symptoms, then it is best to consult an expert for early diagnosis and treatment. Having a child with Prader-Willi syndrome can be very difficult and challenging requiring a lot of patience. It is important to control cravings, eating habits, behavior and medical problems as it can have an impact on the whole family.