What is Williams syndrome? Williams syndrome (WS) is a rare genetic disorder. People with WS may have mild to moderate delays in their cognitive development (ability to think and reason) or learning difficulties.
Williams syndrome is a rare (affecting 1 in 10,000 people) developmental disorder that can affect many parts of the body, including the heart and blood vessels. Children with Williams syndrome have mild to moderate intellectual disability, distinctive facial features, and an outgoing personality.
Williams syndrome may be undiagnosed, which means that many people with the disorder fail to get the support and treatment they need until later in life.
Williams syndrome is a spectrum disorder. There is a great deal of variability in individuals throughout the spectrum. Medical concerns and learning challenges, emotional issues, and anxiety are common and can be all-consuming at times. The severity of the challenges varies and can ebb and flow over the years.
The face and mouth of someone with Williams syndrome may show: A flattened nasal bridge with small upturned nose. Long ridges in the skin that run from the nose to the upper lip. Prominent lips with an open mouth.
Most patients with Williams syndrome are diagnosed as a newborn or in early childhood. The average age of diagnosis is around three and a half years.
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.
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.
Most individuals with Williams syndrome have a degree of intellectual disability, ranging from mild to severe. Research studies have suggested that IQ scores for children with Williams syndrome range from 40 to 112, with a mean IQ score of 68 which equates to a mild intellectual disability (average IQ is 100).
The low I.Q., however, ignores two traits that define Williams more distinctly than do its deficits: an exuberant gregariousness and near-normal language skills. Williams people talk a lot, and they talk with pretty much anyone [p.
A through investigation of the child's blood vessels, often with an echocardiogram (similar to the ultrasound used to look at a baby during pregnancy) and an EKG. A DNA test to check for the missing genes because Williams syndrome is caused by 26-28 missing genes in a small region on one of the child's chromosomes.
Diagnosis and testing for Williams syndrome
Health professionals can diagnose Williams syndrome by looking for the syndrome's key characteristics – distinctive facial features, heart problems, feeding difficulties and developmental delay. They can confirm Williams syndrome with genetic testing.
Williams syndrome is called the happy syndrome because people with this condition often have outgoing, friendly personalities and tend to be very social. They may have a unique ability to connect with others and form strong bonds, making them appear very happy and engaging.
The Williams Syndrome Association also has special growth charts for children with Williams syndrome as well as guidelines for administering anesthesia and for health transition to adulthood in their medical resources. Williams syndrome itself does not get worse over time.
Despite the possibility of medical problems, most children and adults with Williams syndrome are healthy and lead active, full lives.
Yes, but the number and the severity of problems varies greatly among individuals. Many different body systems can be affected and since some of the medical problems can develop over time, it is important that individuals with Williams syndrome receive ongoing medical monitoring and supervision.
People with Williams syndrome typically have difficulty with visual-spatial tasks such as drawing and assembling puzzles, but they tend to do well on tasks that involve spoken language, music, and learning by repetition (rote memorization).
Although low mood in Williams syndrome is less well researched, there are indications that clinical depression diagnoses may be present in approximately 10% of individuals.
Autism and Williams syndrome are genetically based neurodevelopmental disorders that present strikingly different social phenotypes. Autism involves fundamental impairments in social reciprocity and communication, whereas people with Williams syndrome are highly sociable and engaging.
WS is associated with a strong drive to approach strangers, a gregarious personality, heightened social engagement yet difficult peer interactions, high non-social anxiety, unusual bias toward positive affect, and diminished sensitivity to fear.
Williams syndrome is a contiguous gene syndrome, which means that all of the deleted genes "line up" within the Williams syndrome "critical region" of 26-28 genes. There are two DNA tests that can determine if a person has Williams syndrome. The FISH test and the Microarray.
Children with Williams syndrome frequently present with symptoms of attention deficit hyperactivity disorder (ADHD), but there is little information that stimulant medication is useful in this population.
Parents of 57 of the 96 children (59.4%) indicated that their child had difficulty falling asleep. Thirteen children (out of 95, 13.7%) were reported to wake up more than twice per night and 26 (out of 95, 27.4%) had difficulty falling back asleep if they woke up at night.
One of the characteristics of Williams syndrome is an inappropriate increase in social behavior.
Williams syndrome is a progressive disorder with multisystem involvement.