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Understanding Williams Syndrome – Causes, Symptoms, and Treatments
Williams Syndrome is a genetic disorder that has been around for centuries, but was only identified in 1961. It is characterized by a combination of genetic and physical features, including mild to moderate intellectual disability and a distinctive facial appearance. It can cause difficulties in communication, overall learning, and emotional health. While the condition is unique, it is not uncommon and is estimated to affect 1 in 10,000 people.
What Causes Williams Syndrome?
Williams Syndrome is caused by a deletion of genetic material from chromosome 7. This is also known as 7q11.23 deletion syndrome, or Williams-Beuren syndrome. It is caused by a random error in cell division that occurs shortly after conception, affecting the baby’s development. There’s no known way to prevent Williams Syndrome, and it can’t be passed down from parents.
What Are the Symptoms of Williams Syndrome?
The symptoms of Williams Syndrome can vary from person to person and range from mild to moderate. They include:
- Distinctive facial features including a wide forehead, wide-set and upturned eyes, full cheeks, and a broad mouth with thin upper and full lips.
- Developmental delays in cognitive and motor skills
- Heart Problems. About half of people with Williams Syndrome have congenital heart defects, including narrowing of the aortic valve or pulmonary artery.
- Hypocalcaemia (low blood calcium) affects about 75-90% of people with Williams Syndrome, causing seizures, muscle spasms, and irritability.
- Impulsive behavior characterized by friendly yet immature social behavior.
- Hypotonia, which is low muscle tone, may cause delays in learning to feed, sit up, and walk.
These symptoms can be managed with proper medical treatment and care.
Treatments and Health Management for Williams Syndrome
The goal of any treatment plan for Williams Syndrome is to address the individual’s needs to improve quality of life. The most effective treatment involves a team of medical professionals to manage the condition. The team may include:
- Development Specialists to help monitor developmental progress.
- Behavior Specialists to help manage behaviors, such as impulsive and irritable behavior.
- Speech Language Pathologists to help with speech problems and language impairments.
- Occupational Therapists to help with fine motor skills and physical coordination.
- Nutritionists to help with diet to manage calcium balance.
- Mental Health Professionals to help address any mental and emotional health issues.
It’s important to remember that with the right support and care, people with Williams Syndrome can lead full, healthy and happy lives.