WILLIAMS SYNDROME
Williams syndrome is a rare genetic disorder that affects many parts of the body.
- This condition features many developmental problems such as learning disabilities, heart and blood vessel problems, musculoskeletal defects, increased level of calcium in the blood during infancy, distinctive facial features that becomes more noticeable with age.
- Because of the increased rates of heart disease, people affected by the William syndrome have a life expectancy that is lesser than the general population.
- William syndrome disorder occurs roughly in 1 in 10,000 people with an estimated 20,000-30,000 people in the United States.
- It affects both gender and people of every race or culture.
CAUSES
The disorder is caused by a spontaneous deletion of 26-28 genes from the long arm of one member of the pair of chromosome 7. One of the deleted genes produces the protein elastin that gives elasticity to the blood vessels and other tissues in the body. The deletion occurs during the formation of the egg or sperm that forms the child. The deletion is present at the time of conception and may vary among individual.
An individual that has the Williams syndrome has a 50% chance of passing the disorder down to his/her children.
SYMPTOMS
Common symptoms of the disorder include:
- Short Stature
- Learning disabilities
- Attention Deficit Disorder (ADD)
- Some special facial features like full lips, wide mouth, puffiness around the eyes and widely spaced teeth.
- Speech delays
- Long-sightedness
- Feeding problems
- Low birth weight or slow weight gain
- Elevated calcium levels in the blood that may lead to loss of appetite, irritability, weakness, abdominal and muscle pain. This is mostly during infancy.
- Kidney abnormalities
- Anxiety
- Some type of phobias
Some personality traits that include:
- Excessively social personality
- Sensitivity to loud noises
- An interest in music
DIAGNOSIS AND TREATMENT
DIAGNOSIS
Diagnosis is made by a recognition of the physical characteristics. The diagnosis can then be confirmed by doing a fluorescent in site hybridization (FISH). This is a lab test that uses DNA sequences to query whether entire chromosomes or parts of a chromosome may be duplicated or entirely deleted in cells. This enables the doctor to see if the gene is missing or not.
Other tests may include a kidney ultrasound, blood pressure check, blood test and echocardiogram.
TREATMENT
No cure exists for William syndrome. Treatment is usually based on individual symptoms and may involve easing the symptoms and development difficulties connected to the disorder.
A diet low in vitamin D is highly recommended to reduce calcium levels.
An orthodontic dentist may help with dental treatment.
Intervention for developmental abnormalities may include:
- Special education and vocational training
- Psychological and psychiatric evaluation
- Behavioral counseling
- Speech and language, physical and sensory integration therapy.
Some evaluations are recommended to be taken yearly. They are:
- Ophthalmologic evaluation for the eyes.
- Cardiology evaluation
- Hearing assessment
- Blood pressure measurement
- Developmental and growth evaluation
- Assessments of joints and muscle tone
There are different types of organizations that support people affected by William syndrome. The Canadian Association for Williams Syndrome and the Williams Syndrome Registry are some of such organizations.