A rare genetic disorder that provokes physical, mental, and behavioral problems is known as Prader-Willi syndrome. The primary symptom of this syndrome is persistent hunger that appears usually in children of 2 years old. This sense of hunger makes people with this syndrome eat constantly (hyperphagia). Moreover, it becomes difficult to control weight with this condition. Many complications of Prader-Willi syndrome happen due to obesity usually.
Those who suffer from this syndrome require a team of healthcare specialists to manage the symptoms and improve their quality of life.
Symptoms
The symptoms change over time and commonly appear differently among the patients. Check below some examples:
Infants
- Poor muscle tone (hypotonia)
- Distinct facial features (such as almond-shaped eyes, thin upper lip, narrowed head at the temples, and others)
- Poor sucking reflex
- Unusual tiredness
- Underdeveloped genitals (such as small penis and scrotum in males and small labia and clitoris in females)
Early Childhood to Adulthood
The symptoms that happen during this period may be permanent and require careful management. Examples include:
- Persistent hunger and weight gain – This is a primary symptom of Prader-Willi syndrome which usually begins near 2 years old.
- Underdeveloped reproductive organs – This is a health condition called hypogonadism (testicles in males and ovaries in females) in which there is reduced hormone production or even lack of it. The most common symptom of hypogonadism is infertility in both men and women. If you do not receive treatment for hypogonadism it may lead to menstrual periods in females. Reduced facial hair and not a full deepening of the voice in males also can occur.
- Poor development and growth – This commonly happens due to a decreased production of growth hormones. It also can lead to reduced muscle mass, short adult height, increased body fat, and others.
- Cognitive impairment – Intellectual disability (including thinking problems, difficulty problem solving, and others) is common in people with this syndrome.
- Delayed motor development – Children who suffer from this genetic disorder can experience motor development problems (including problems with sitting up, walking, and others)
- Speech issues – Poor articulation of words and delayed speech are common in people with this syndrome.
- Behavioral problems – Children with Prader-Willi syndrome could be stubborn, angry, or manipulative. Moreover, they can develop obsessive-compulsive or repetitive behaviors. Other mental disorders also can happen (including anxiety).
- Sleep problems – Disruptions in the sleep cycle occur frequently in people with Prader-Willi syndrome.
- Other symptoms include small hands and feet, scoliosis, hip problems, decreased saliva flow, vision disorders, hypopigmentation, and others.
If you notice your child experiences any of the previous symptoms, it is advised to consult a doctor at once.
Causes
This condition usually happens due to a genetic mutation of one or more genes. Although the region of the 15 chromosome causes Prader-Willi syndrome, experts cannot determine the exact ones.
The only exceptions of the genes are related to sex characteristics, others come in pairs from biological parents (inherited one from the father and another one from the mother). However, this syndrome happens due to a gene error that is not inherited. Check below some factors that provoke Prader-Willi syndrome:
- Missing certain genes on chromosome 15
- It also can happen when a child inherits two copies of chromosome 15 from one of the biological parents. For instance, 2 copies from the mother and no one from the father.
- An error or defect happens in the paternal genes on chromosome 15.
Additionally, this defect on chromosome 15 also affects a part of the brain that is responsible for controlling hormone production and release (hypothalamus). That’s why people with this genetic disorder experience problems with growth, sexual development, body temperature, mood, sleep, and hunger.
Mostly, Prader-Willi syndrome happens randomly due to one of the previous causes.
What Are The Possible Prader-Willi Syndrome Complications?
Obesity
This complication often occurs due to uncontrollable eating and constant hunger. Check below some health problems caused by obesity:
- Sleep apnea
- Increased risk of liver disease and gallbladder stones
- Hypertension (high blood pressure)
- Heart disease
- High cholesterol levels in the blood
- Type 2 diabetes
Abnormal Hormone Production
For example:
- Osteoporosis – This is a health condition in which bones become weak, which increases your risk of fractures. It happens because people with this genetic disorder have reduced amounts of sex hormones.
- Sterility – Women with Prader-Willi syndrome cannot become pregnant.
Other Complications
- Binge eating effects – Binge eating is when a person eats big amounts of food fast. It provokes the stomach to enlarge abnormally. Rarely, some people may experience stomach rupture due to binge eating.
- Decreased quality of life – Prader-Willi syndrome symptoms interact with family, friends, and others causing problems in your day-to-day routine.
Is it Possible to Prevent Prader-Willi Syndrome?
In case you have a child with this genetic disorder, a genetic counselor can help you determine the risk of Prader-Willi syndrome for another child. Talk with your healthcare professional for more details.
Diagnosis
In case physicians suspect your child has this genetic disease based on the symptoms and signs, they can perform some blood tests. Moreover, genetic testing can help doctors to confirm the condition.
Treatment
The only way to lessen the symptoms and prevent complications is early diagnosis and proper treatment. Otherwise, if complications occur, many of them are life-long and require regular management. The group of healthcare providers involved in the treatment of Prader-Willi syndrome include an endocrinologist (specialist in hormonal disorders), a dietician, a behavior specialist, a geneticist, a physical and occupational therapist, and others if needed.
The treatment usually is prescribed by doctors according to symptoms and other factors. However, approximately all people with Prader-Willi syndrome require the following treatment options. Examples include:
- Good nutrition – It is very important to give your child high-calorie formula or special feeding options to help the baby gain weight and growth. Most of them have reduced muscle tone due to difficulty feeding.
- Human growth hormone (HGH) treatment – This treatment option is usually prescribed by an endocrinologist to improve your child’s growth and muscle tone, and reduce body fat.
- Sex hormone treatment – Testosterone for males and Estrogen for females are also prescribed by doctors to prevent different health problems including infertility, osteoporosis, underdeveloped genitals, and others.
- Weight management – This is recommended in early childhood to adulthood because in this period usually happens persistent hunger. A restricted-calorie diet, supplements, vitamins, or minerals are recommended to ensure balanced nutrition. Otherwise, it may lead to obesity and other health problems.
- Sleeping disorders treatment – If you get treatment for sleeping problems, it may improve daytime sleepiness and behavioral problems.
- Therapies – These include physical therapy (this procedure helps to improve movement skills and strength), speech therapy (improves verbal skills), occupational therapy (helps to learn day-to-day skills), and developmental therapy.
- Behavior management – One way to improve constant hunger is strict limits on behavior, schedules, and access. However, some people need medications for behavior issues.
- Mental disorders treatment – Usually, prescribed for obsessive-compulsive behaviors, mood disorders, anxiety, and others.
In any case, you should not give your children any medications without a doctor’s recommendation because it may lead to unpleasant outcomes.
Frequently Asked Questions
What is the life expectancy for people with Prader-Willi syndrome?
The average age of death is considered 21 years old for people with this genetic disorder.
Can people with this genetic disorder have children?
It is not known for men or women with Prader-Willi syndrome to have children. However, it is almost impossible due to reduced sex hormone production which usually provokes infertility either in males or females. Consult with your physician for more details.
What are the most common complications of Prader-Willi syndrome?
- Cardiovascular disease
- Nonalcoholic fatty liver disease (NAFLD)
- Dyslipidemia
- Diabetes
- Sleep disorders
- Respiratory conditions
If your child has Prader-Willi syndrome and you suspect any of the previous complications, immediately contact your doctor. Ask your healthcare professional if you have additional questions.
