Prader-Willi Syndrome: Causes, Symptoms, Diagnosis, Treatment

Prader-Willi syndrome is a rare genetic disorder that results in a range of behavioral, mental, and physical problems. One of the main symptoms of Prader-Willi syndrome is constant hunger, which often begins at age 2.

People with Prader-Willi syndrome have uncontrolled hunger because they often struggle with weight control and experience hyperphagia, or the inability to feel full. One of the main causes of Prader-Willi syndrome complications is obesity.

Because Prader-Willi syndrome is a complex condition, a team approach is the most effective way to treat it. A range of experts can work with you to manage symptoms, reduce the chance of complications, and improve the quality of life for your loved one with the illness.

Causes Of Prader-Willi Syndrome

A genetic error in one or more genes causes Prader-Willi syndrome, a hereditary illness. Even if the exact mechanisms underlying Prader-Willi syndrome are still unknown, it is caused by genes located in a particular region on chromosome 15.

Every gene (except those related to sex features) is inherited in pairs; one copy comes from your father (a paternal gene), and the other copy originates from your mother (a maternal gene). Some gene types usually act alone, but for most genes, if one copy is "active," or expressed, then the other copy also expresses itself.

The expression of some paternal genes that shouldn't be expressed leads to Prader-Willi syndrome and can be caused by one of the following factors:

• Absence of  paternal genes on chromosome 15.
• The child received two copies of chromosome 15 from the mother and none from the father.
• There is a paternal gene deficiency or mistake on chromosome 15.

Because of a genetic abnormality on chromosome 15, people with Prader-Willi syndrome have defective functioning of the hypothalamus, a region of the brain that controls hormone release. Dysfunction of the hypothalamus can lead to disturbances in bodily temperature, mood, hunger, growth, sexual development, and sleep patterns.

Prader-Willi syndrome is most frequently caused by an genetic error rather than being inherited. Knowing which genetic defect causes Prader-Willi syndrome can be helpful in genetic counseling.

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Symptoms Of Prader-Willi Syndrome

Each person may experience Prader-Willi syndrome symptoms and signs differently. A person's symptoms may progressively change as they age.

Young children

The indications and symptoms listed below may be present from birth:

• Decreased tone of the muscles: A common sign in the early stages of the condition is hypotonia or decreased muscular tone. Babies may prefer to sleep with their elbows and legs loosely extended rather than fixed, and they may feel floppy or like rag dolls when carried.
• Distinctive facial characteristics: Possible birth deformities include almond-shaped eyes, a turned-down mouth, a constriction of the skull at the temples, and a thin upper lip.
• Inadequate reflex for sucking: Babies may have a weak sucking reflex as a result of their lowered muscle tone. Inadequate sucking makes feeding challenging and may lead to underdevelopment.
• General unresponsive: A newborn could have trouble waking up, wail pathetically, or appear extremely exhausted and react badly to stimuli.
• Underdeveloped genitalia: Small penises and scrotums are common among men. Small testicles or testicles that do not descend completely from the abdomen into the scrotum are signs of cryptorchidism. Females may have very small labia and clitoris.

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From infancy to adulthood:

Careful care is required since additional Prader-Willi syndrome symptoms appear in early childhood and continue into adulthood. These characteristics could include:

• Food cravings and increased body mass: Frequent food cravings that cause fast weight gain, usually beginning around age two, are a characteristic symptom of Prader-Willi syndrome. Frequent eating and high portion sizes are the result of persistent hunger. Hoarding food, eating frozen food, or even eating trash are examples of unusual food-seeking behaviors that could emerge.
• Underdeveloped sexual organs: The insufficient or absent production of sex hormones by the ovaries in women and the testes in men is known as hypogonadism. Infertility occurs in almost all cases, along with undeveloped sex organs and incomplete or delayed puberty. Men might not have much facial hair and their voices might never fully deepen if they don't receive treatment, while women might not start menstruation until their 30s or never at all.
• Inadequate physical development and growth: Low muscular mass, excessive body fat, and short adult height can all be caused by the underproduction of growth hormones. Other endocrine issues include central adrenal insufficiency, which stops the body from reacting correctly to stress or infections, and hypothyroidism, or underproduction of thyroid hormone.
• Impairment of cognition: One prevalent characteristic of the illness is mild to severe intellectual disability, which includes difficulties with reasoning, thinking, and solving problems. Some people have learning impairments even when they don't have a severe intellectual handicap.
• Delayed development of motor skills: Toddlers with Prader-Willi syndrome sometimes outgrow other youngsters when it comes to reaching physical milestones like sitting up or walking.
• Speech issues. Speech is frequently postponed: Poor word articulation may persist throughout maturity.
• Behavioral problems: Sometimes adults and children can be stubborn, unreasonable, controlling, or manipulative. They may become agitated and have trouble adjusting to daily changes, particularly if they aren't fed. Additionally, they can begin engaging in compulsive behaviors, repeated activities, or both. Additional indicators of mental health problems could include anxiety and skin picking.
• Problems with sleeping: People with Prader-Willi syndrome may have difficulty falling asleep, regardless of age. Anomalies about the regular sleep cycle and sleep apnea, a condition where breathing ceases during sleep, are among these issues. These illnesses may worsen behavioral problems and result in excessive daytime sleepiness.
• Additional symptoms and indicators: Small hands and feet, scoliosis, hip problems, low salivation, nearsightedness, other visual problems, problems regulating body temperature, high pain tolerance, hypopigmentation, pale skin, hair, and eyes are a few examples of these.

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Diagnosis Of Prader-Willi Syndrome

Usually, Prader-Willi syndrome is suspected by doctors based on symptoms and indicators. A blood test can nearly always provide a conclusive diagnosis. Through genetic testing, Prader-Willi syndrome-related chromosomal abnormalities in your child can be identified.

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Treatment Of Prader-Willi Syndrome

 Prader-Willi syndrome sufferers can lead better lives if they get a diagnosis and therapy as soon as feasible. You will likely work with a team of healthcare professionals to manage the illness.

A behavior specialist, dietitian, PT, OT, mental health professionals, geneticists, and other specialists, as needed, could be on your team. A doctor who treats hormone imbalances is known as an endocrinologist.

Although the specific treatment plan is dependent on the symptoms, the majority of children with Prader-Willi syndrome need the following:

• Healthy food for small children: Many neonates with Prader-Willi disorder have difficulty feeding because the condition tends to cause lower muscle tone. Your child's doctor will monitor their growth and may recommend special feeding methods or a high-calorie formula to help them lose weight.
• Human growth hormone (HGH) treatment: Children with Prader-Willi syndrome benefit from HGH therapy in terms of improved growth, toned muscles, and reduced body fat. Your child's endocrinologist, or doctor who treats hormone imbalances, can provide you with information on the possible advantages and risks of HGH therapy. A sleep study is typically recommended before starting growth hormone medication.
• Treatment using sexual hormones: Your endocrinologist may suggest hormone replacement therapy for your child to replenish decreased levels of sex hormones (estrogen and progesterone for females, testosterone for males). Hormone replacement therapy is usually initiated when your child reaches the traditional puberty age and can help reduce the risk of developing osteoporosis, or thinning of the bones. Testicles that are still descending could require surgery to rectify.
• Control your weight: To control your child's weight and maintain appropriate nutrition, a dietitian can assist you in creating a nutritious, low-calorie diet. Supplemental vitamins or minerals may be necessary in a low-calorie diet to guarantee a balanced diet. Getting more exercise and physical activity can help control weight and enhance bodily functions.
• Management of insomnia: Daytime tiredness and behavioral disorders can be improved by treating sleep apnea and other sleep-related conditions.
• Different forms of therapy: A variety of therapies, such as occupational therapy to teach daily activities, speech therapy to enhance verbal skills, and physical therapy to enhance movement abilities and strength, will probably be beneficial for your kid. Interpersonal skills, social skills, and age-appropriate behavior can all be learned through developmental therapy. 
• Control of behavior: It could be necessary to impose stringent rules on conduct, timetables, and food access, as well as to closely monitor how much food is consumed. Medication may be necessary for some persons to treat behavioral issues.
• Mental health care: A psychologist or psychiatrist, for example, can assist in treating psychological issues including obsessive-compulsive behaviors, skin picking, or mood disorders.
• Alternative therapies: These could involve treating particular symptoms or side effects found during eye exams for vision issues, testing for diabetes or hypothyroidism, and scoliosis assessments.

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Prevention Of Prader-Willi Syndrome

If you would like to have another child but your existing one has Prader-Willi syndrome, you might want to consider genetic counseling. A genetic counselor can help determine your risk of having another child with Prader-Willi syndrome.

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Complications Of Prader-Willi Syndrome

Issues related to obesity

Patients with Prader-Willi syndrome not only have an excessive appetite but also low muscle mass, which means they burn fewer calories than average and might not exercise. They have a higher risk of becoming fat and developing obesity-related health problems, such as:

• Type 2 diabetes
• High blood pressure, high cholesterol, heart disease
• Apnea during sleep 
• An increased risk of liver disease and gallstones are among the additional negative effects.
• Problems resulting from insufficient hormone production

Numerous issues can arise from insufficient hormone production, including

• Sterility: There are a few reports of pregnant women with Prader-Willi syndrome, but most affected individuals are unable to conceive.
• Osteoporosis: Because of osteoporosis, bones are weak and brittle and can break easily. People with Prader-Willi syndrome may also have low levels of sex hormone and growth hormone, which raises their risk of osteoporosis because both hormones are necessary for strong bones.

Other problems that might result from Prader-Willi syndrome include the following:

• Consequences of excessive consumption of food: An abnormally large stomach might be the result of the behavior known as binge eating, which involves ingesting massive quantities of food quickly. Patients with Prader-Willi syndrome rarely throw up and sometimes don't even remember being in agony. Binge eating can also lead to choking. Rarely does someone overeat to the point of rupture in their stomach.
• Reduced quality of life: Social contact, efficient education, and family functioning can all be hampered by behavioral problems. Furthermore, they might make adults, teenagers, and children with Prader-Willi syndrome live shorter lives.

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