- By sahlhealth
- May 18, 2021
- 61 views
Prader-Willi (PRAH-dur VIL-e) syndrome is a rare genetic disorder that results in a number of physical, mental and behavioral problems. A key feature of Prader-Willi syndrome is a constant sense of hunger that usually begins at about 2 years of age.
People with Prader-Willi syndrome want to eat constantly because they never feel full (hyperphagia), and they usually have trouble controlling their weight. Many complications of Prader-Willi syndrome are due to obesity.
Best managed by a team approach, various specialists can work with you to manage symptoms of this complex disorder, reduce the risk of developing complications and improve the quality of life for your loved one with Prader-Willi syndrome.
Signs and symptoms of Prader-Willi syndrome can vary among individuals. Symptoms may slowly change over time from childhood to adulthood.
Signs and symptoms that may be present from birth include:
Poor muscle tone. A primary sign during infancy is poor muscle tone (hypotonia). Babies may rest with their elbows and knees loosely extended instead of fixed, and they may feel floppy or like rag dolls when they're held.
Distinct facial features. Children may be born with almond-shaped eyes, a narrowing of the head at the temples, a turned-down mouth and a thin upper lip.
Poor sucking reflex. Infants may have a poor sucking reflex due to decreased muscle tone. Poor sucking makes feeding difficult and can result in failure to thrive.
Generally poor responsiveness. A baby may seem unusually tired, respond poorly to stimulation, have a hard time waking up or have a weak cry.
Underdeveloped genitals. Males may have a small penis and scrotum. The testicles may be small or not descended from the abdomen into the scrotum (cryptorchidism). In females, the clitoris and labia may be small.
Early childhood to adulthood
Other features of Prader-Willi syndrome appear during early childhood and remain throughout life, requiring careful management. These features may include:
Food craving and weight gain. A classic sign of Prader-Willi syndrome is a constant craving for food, resulting in rapid weight gain, starting around age 2 years. Constant hunger leads to eating often and consuming large portions. Unusual food-seeking behaviors, such as hoarding food, or eating frozen food or even garbage, may develop.
Underdeveloped sex organs. A condition called hypogonadism occurs when sex organs (testes in men and ovaries in women) produce little or no sex hormones. This results in underdeveloped sex organs, incomplete or delayed puberty, and in nearly all cases, infertility. Without treatment, women may not start menstruating until their 30s or may never menstruate, and men may not have much facial hair and their voices may never fully deepen.
Poor growth and physical development. Underproduction of growth hormone can result in short adult height, low muscle mass and high body fat. Other endocrine problems may include underproduction of thyroid hormone (hypothyroidism) or central adrenal insufficiency, which prevents the body from responding appropriately during stress or infections.
Cognitive impairment. Mild to moderate intellectual disability, such as issues with thinking, reasoning and problem-solving, is a common feature of the disorder. Even those without significant intellectual disability have some learning disabilities.
Delayed motor development. Toddlers with Prader-Willi syndrome often reach milestones in physical movement — for example, sitting up or walking — later than other children do.
Speech problems. Speech is often delayed. Poor articulation of words may be an ongoing problem into adulthood.
Behavioral problems. Children and adults may at times be stubborn, angry, controlling or manipulative. They may throw temper tantrums, especially when denied food, and may not tolerate changes in routine. They may also develop obsessive-compulsive or repetitive behaviors, or both. Other mental health disorders, such as anxiety and skin picking, may develop.
Sleep disorders. Children and adults with Prader-Willi syndrome may have sleep disorders, including disruptions of the normal sleep cycle and a condition in which breathing pauses during sleep (sleep apnea). These disorders can result in excessive daytime sleepiness and worsen behavior problems.
Other signs and symptoms. These may include small hands and feet, curvature of the spine (scoliosis), hip problems, reduced saliva flow, nearsightedness and other vision problems, problems regulating body temperature, a high pain tolerance, or a lack of pigment (hypopigmentation) causing hair, eyes and skin to be pale.
Early diagnosis and treatment can improve the quality of life for people with Prader-Willi syndrome. A team of health professionals will likely work with you to manage the condition.
Your team may include a doctor who treats hormonal disorders (endocrinologist), behavior specialists, a dietitian, physical and occupational therapists, a mental health professional, a geneticist, and other specialists as needed.
Although specific treatments vary depending on symptoms, most children with Prader-Willi syndrome will need the following:
Good nutrition for infants. Many infants with Prader-Willi syndrome have difficulty feeding due to decreased muscle tone. Your child's pediatrician may recommend a high-calorie formula or special feeding methods to help your baby gain weight and will monitor your child's growth.
Human growth hormone (HGH) treatment. HGH treatment in children with Prader-Willi syndrome helps increase growth, improves muscle tone and decreases body fat. A doctor who treats hormonal disorders (endocrinologist) can help determine whether your child would benefit from HGH and discuss any risks. A sleep study is usually recommended before starting growth hormone treatment.
Sex hormone treatment. Your endocrinologist may suggest that your child take hormone replacement therapy (testosterone for males or estrogen and progesterone for females) to replenish low levels of sex hormones. Hormone replacement therapy usually starts when your child reaches the normal age for puberty and can help reduce the risk of developing thinning of the bones (osteoporosis). Surgery may be needed to correct undescended testicles.
Weight management. A dietitian can help you develop a healthy, reduced-calorie diet to help manage your child's weight while ensuring proper nutrition. A restricted-calorie diet may require supplemental vitamins or minerals to ensure balanced nutrition. Increasing physical activity and exercise can help manage weight and improve physical functioning.
Treatment of sleep disturbances. Treating sleep apnea and other sleep problems can improve daytime sleepiness and behavioral issues.
Various therapies. Your child will likely benefit from a range of therapies, including physical therapy to improve movement skills and strength, speech therapy to improve verbal skills, and occupational therapy to learn everyday skills. Developmental therapy to learn age-appropriate behaviors, social skills and interpersonal skills also may help. In the U.S., early intervention programs with these types of therapy are usually available for infants and toddlers through a state's health department. During school years, educational planning and support can maximize learning.
Behavior management. Setting strict limits on behavior, schedules and access to food and strict supervision of food intake may be required. Some people may need medication to manage behavior problems.
Mental health care. A mental health professional, such as a psychologist or a psychiatrist, may help address psychological problems — for example, obsessive-compulsive behaviors, skin picking or a mood disorder.
Other treatments. These may include addressing specific symptoms or complications identified by eye exams for vision problems, tests for hypothyroidism or diabetes, and examinations for scoliosis.
Transition to adult care
Most people with Prader-Willi syndrome will need specialized care and supervision throughout their lives. Many adults with the disorder live in residential care facilities that enable them to eat healthy diets, live safely, work and enjoy leisure activities.
As your child approaches adulthood, consider these strategies:
Find local resources and services for adults through your child's school and organizations such as the Prader-Willi Syndrome Association.
Investigate guardianship issues, wills and special needs trusts that address future care and supervision for your child.
Talk to your child's doctor for suggestions about making the transition to adult medical care.