Williams Syndrome: Symptoms, Causes, Diagnosis & Treatment

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Williams Syndrome: Symptoms, Causes, Diagnosis & Treatment

Williams syndrome (WS) is a genetic disorder that can lead to problems with development. Affected people often have an outgoing personality and interact readily with strangers. They usually have a broad forehead, short nose, and full cheeks.

Caused by a genetic abnormality, this occurs as a random event during the formation of the egg or sperm from which a person develops. The diagnosis is generally suspected based on symptoms and confirmed by genetic testing.

Treatment of WS includes special education programs and various types of therapy. The syndrome was first described in 1961. Williams syndrome affects 1 in 7,500 to 1 in 20,000 people at birth. Life expectancy is less, mostly due to the increased rates of heart disease.

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How Does Williams Syndrome Affect Your Body?

Cardiovascular problems are common in people with Williams syndrome, including hypertension or high blood pressure and supravalvular aortic stenosis (SVAS). SVAS is narrowing of the blood vessels which can lead to heart failure. Connective tissue disorders are also common which including both joint stiffness and laxity, and problems with muscle tone and skin elasticity. Vision, digestive, and dental problems can also occur in WS patients.

What Are The Causes of Williams Syndrome?

Williams syndrome is caused by the spontaneous deletion of 26-28 genes on chromosome number 7; occurs at the time of conception.

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What Are The Risk Factors of Williams Syndrome?

There are no specific risk factors that have been identified and WS does not seem to be transmitted through inheritance.

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What Are The Symptoms of Williams Syndrome?

The characteristic facial appearance, which includes:

  • Small upturned nose
  • Long upper lip length
  • Wide mouth
  • Full lips
  • Small chin
  • Puffiness around the eyes

Cardiovascular problems include:

  • Narrowing in the aorta producing supravalvular aortic stenosis
  • Narrowing of the pulmonary arteries.
  • Hypercalcemia – Some children with WS have elevations in their blood calcium level.
  • Low-birth-weight or slow weight gain – Children with WS have a slightly lower birth-weight.
  • Difficulty in feeding – This has been linked to low muscle tone, severe gag reflex, poor suck or swallow, tactile defensiveness etc.
  • Irritability – An extended period of colic or irritability which typically lasts from 4 to 10 months of age and then resolves.
  • Dental abnormalities – Slightly small, widely spaced teeth are common in children with WS.
  • Sensitive hearing – Children with WS often have more sensitive hearing than other children.
  • Musculoskeletal problems – Children with WS often have low muscle tone and joint laxity.
  • Over-friendly personality – This is a very endearing personality in WS children. They have expressive language skills, and are extremely polite and are typically unafraid of strangers and show a greater interest in contact with adults than with their peers.
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How is Williams Syndrome Diagnosed?

Diagnosis of Williams syndrome begins with a recognition of physical symptoms and markers like puffiness around the eye, which is followed by a confirmatory genetic test.

FISH test – Fluorescent in situ hybridization examines chromosome number 7 and probes for the existence of two copies of the elastin gene. This test has been demonstrated to be a more effective method of identifying Williams syndrome than previous methods, which often relied on the presence of cardiovascular problems and facial features.

How to Prevent And Control Williams Syndrome?

There is no known way to prevent the cause of Williams syndrome. Prenatal testing is available for people with a family history of Williams syndrome.

Treatment of Williams Syndrome – Allopathic Treatment

There is no cure for Williams syndrome and usually, therapies are recommended for WS patients. Avoid extra calcium and vitamin D.

  • Physical therapy – This is helpful to patients with joint stiffness and low muscle tone. Developmental and speech therapy can also help and increase the success of their social interactions in children.
  • Ophthalmologic evaluations – Examination for an inguinal hernia, objective hearing assessment, blood pressure measurement, developmental and growth evaluation, orthopedic assessments on joints, muscle tone, and ongoing feeding and dietary assessments to manage constipation and urinary problems.
  • Behavioral treatments – Effective for social skills but may also be effective to channel their nature by teaching basic skills.
  • Music therapy – The effective treatment for those with Williams syndrome is music. Patients with WS syndrome have shown a relative strength in regards to music, albeit only in pitch and rhythm tasks. It has been shown that music may help with the internal and external anxiety that these people are more likely to be irritated with.

Treatment of Williams Syndrome – Homeopathic Treatment

No known homeopathic remedy for Williams syndrome.

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Williams Syndrome – Lifestyle Tips

  • Reduced sugar intake has helped in decreasing the risk of cardiovascular problems.
  • Include more physical activity, any kind of continuous movement for 30 minutes or for a couple of hours can help remain healthy.
  • Fewer hours of TV or computer screen time during the evening can help in improved sleep quality.
  • Eating a healthy diet including fruits and vegetables every day can help boost the immune system.

What Are The Recommended Exercises For a Person With Williams Syndrome?

There are no specific exercises for patients with Williams syndrome, however, to remain healthy and active walking and running for 30 minutes a day can be helpful.

Williams Syndrome & Pregnancy – Things to Know

There’s no increased risk of fertility problems in patients with Williams syndrome. However, there’s a 50% chance of children getting it if any of the parents have this condition. Prenatal diagnostic can be done to look for it.

Common Complications Related to Williams Syndrome

  • Calcium deposits in the kidney
  • Death (rare; from anesthesia)
  • Heart failure due to narrowed blood vessels
  • Pain in the abdomen

FAQs

Q. Is there a cure for Williams Syndrome?

A. No, there is no cure for Williams Syndrome.

Q. Is there a recommended diet for people with Williams Syndrome?

A. There is no single recommended diet for people with WS.


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