Question: At What Age Is Williams Syndrome Diagnosed?

Is Williams Syndrome the same as Down syndrome?

Williams syndrome is characterised by poor visuo-spatial abilities alongside relatively preserved language skills, whereas Down’s syndrome is characterised by lower language skills alongside less impaired visuo-spatial skills (e.g.

Mervis and John, 2012)..

Is Williams syndrome a form of autism?

Autism spectrum disorders (ASD) and Williams syndrome (WS) both are neurodevelopmental disorders, each with a unique social phenotypic pattern.

Can you test for Williams syndrome while pregnant?

Prenatal testing (testing during pregnancy) for Williams syndrome is possible using the FISH test on DNA sample obtained by chorionic villus sampling (CVS) or by amniocentesis.

Can Williams syndrome be cured?

Although there is no cure for Williams syndrome, it is important to identify and treat the different medical problems that can occur with this disorder. Treatments and interventions must be based on the unique needs of each individual.

How do you deal with Williams syndrome?

There is no cure for Williams syndrome. Treatment involves easing the symptoms connected to the syndrome. Narrowed blood vessels can be treated if they cause symptoms. Physical therapy and speech therapy can also be beneficial.

What is an elfin face?

Elfin facies is a form of facies where the patient presents with facial characteristics bearing some similarities to those traditionally associated with elves. It is characterized by prominent forehead, widely spaced eyes, upturned nose, underdeveloped mandible, dental hypoplasia, and patulous lips.

Can you have mild Williams syndrome?

Children with Williams syndrome typically have a personality that is friendly, outgoing, and/or talkative. The appropriate use of language and vocabulary range may be unusually enhanced in some children with this disorder. Mild to moderate mental retardation may occur.

What is the life expectancy of a child with Williams syndrome?

Some people with Williams syndrome may have a reduced life expectancy due to complications of the disease (such as cardiovascular involvement). No studies specifically exist on life expectancy, although individuals have been reported to live into their 60s.

What genes are missing in Williams syndrome?

Williams syndrome is caused by a missing piece ( deletion ) of genetic material from a specific region of chromosome 7. The deleted region includes more than 25 genes . CLIP2, ELN, GTF2I, GTF2IRD1, and LIMK1 are among the genes that are typically deleted in people with Williams syndrome.

How does Williams syndrome affect daily life?

A child with Williams syndrome who is physically healthy is more likely to do well in school and in other treatments. This contributes to more independence, better daily functioning, and better quality of life.

Can someone have Down syndrome and look normal?

Many people with Down syndrome have the common facial features and no other major birth defects. However, some people with Down syndrome might have one or more major birth defects or other medical problems.

Can Williams Syndrome go undiagnosed?

Diagnosis of Williams syndrome Williams syndrome often goes undiagnosed. This means many people fail to get the support and treatment they need until later in life.

How do you know if you have Williams syndrome?

Williams syndrome is usually diagnosed before a child is 4 years old. Your doctor will do an exam and ask about your family medical history. Then the doctor will look for facial features like an upturned nose, wide forehead, and small teeth. An electrocardiogram (EKG) or ultrasound can check for heart problems.