Prader-Willi syndrome is a rare genetic disorder that occurs when part of an important chromosome is deleted at conception, leading to abnormal physical features, possible behavioral issues and mild mental retardation. This disorder can effect any gender or ethnicity and occurs, on average, at about 1 in 15,000 births. This syndrome may occur in phases that lead to very different symptoms, depending upon the individual case. Early detection of the disorder is important and parents can opt for prenatal testing to determine possible genetic issues.
Symptoms of Prader-Willi Syndrome
Cases of Prader-Willi syndrome can range from mild to severe and cause a number of physical and behavioral issues. The most visible are those that affect the physical stature. Babies born with Prader-Willi syndrome are commonly lower than average in birth weight. For the first couple of years, they may have trouble eating, leading to nutritional problems and inability to gain weight. At or around 2 to 5 years of age, patients may enter the next phase, which often causes life-threatening obesity, due to the inability to satisfy hunger. Many other symptoms may exist, and following is a list of possibilities:
- Hypotonia - low muscle tone leading to low birth weight, inability to gain weight for the first few years or problems feeding
- Respiration problems
- Lack of complete sexual development - this may lead to infertility
- Excessive sleeping or lethargy
- Delay in speech
- Hyperphagia - inability to establish satisfaction from eating, which commonly leads to obesity
- Learning disabilities or mental retardation
- Light skin which bruises easily
- Abnormal physical features - short stature, high, narrow forehead, almond-shaped eyes, downturned lips, prominent nasal bridge
- Delays in motor development
Causes of Prader-Willi Syndrome
The root cause of Prader-Willi syndrome is not known. This condition occurs when certain genes normally found on chromosome 15 are missing, deleted or unexpressed. The risk of birthing a child with this syndrome depends upon certain parental genetics, but can often be random. Prenatal testing is available to detect any known misconfigurations of materal and paternal chromosomes.
Diagnosis of Prader-Willi Syndrome
DNA testing can be conducted to identify Prader-Willi syndrome. If many of the symptoms are present, such as abnormal physical features, hypotonia, developmental delay and excessive eating, a medical physician may suspect the disorder. Early diagnosis can be crucial to the success of treatment.
Treatment Options for Prader-Willi Syndrome
Treating Prader-Willi syndrome is largely aimed at supportive care for any symptoms that may be caused by the disorder. There is no cure for this condition. Early detection can be helpful due to new technology that recommends growth hormone (GH) for the prevention of many symptoms. GH can help to increase muscle mass, which leads to better eating habits during infancy, faster growth and may help with food preoccupation and weight gain in later childhood. There are several other treatment methods, depending upon the symptoms present in the child. Following is a list of helpful options for children who may be experiencing certain symptoms:
- Speech and occupational therapy may be helpful during early years.
- Learning disabilities may require special programming and significant structure.
- Behavioral therapy may be recommended for learning disabilities, temper tantrums or other emotional symptoms.
- Obesity is a major concern with this disorder. Food intake should be monitored and weight control encouraged.
- Significant weight gain may lead to sleep apnea. A positive airway pressure machine may be necessary in this case.
- Surgery or other medical treatment may be necessary to correct any problems with sexual organs.
- Psychotropic drugs can help to alter abnormal brain function, including perception, consciousness, mood and cognition.
- As adulthood progresses, individual assessment may be recommended to determine the need for assisted living, work-related functionality and level of disability.