Williams Syndrome (WS) is a rare genetic condition present from birth, caused by a missing piece of chromosome 7, leading to unique facial features, developmental delays, intellectual disabilities, and distinctive personality traits like being overly friendly, along with various health issues, especially heart and blood vessel problems. People with WS often have strong verbal skills, a love for music, and challenges with visual-spatial tasks, requiring early intervention and management for symptoms.
Charming and friendly, they excel at reading emotional expressions on people's faces—at times even better than the rest of us—and they eagerly engage people with conversation. But people with Williams syndrome also struggle to understand social boundaries.
A Life Without Fear
Children with Williams are often physically small and frequently have developmental delays. But also, kids and adults with Williams love people, and they are literally pathologically trusting. They have no social fear.
Young children with Williams syndrome have distinctive facial features including a broad forehead, puffiness around the eyes, a flat bridge of the nose, full cheeks, and a small chin. Many affected people have dental problems such as teeth that are small, widely spaced, crooked, or missing.
Background The hallmark of the neurobehavioural phenotype of Williams-Beuren syndrome (WBS) is increased sociability and relatively preserved language skills, often described as opposite to autism spectrum disorders (ASD).
The characteristic facial features of WS include puffiness around the eyes, a short nose with a broad nasal tip, wide mouth, full cheeks, full lips, and a small chin. People with WS are also likely to have a long neck, sloping shoulders, short stature, limited mobility in their joints, and curvature of the spine.
Most often, the missing piece of chromosome 7, which causes Williams syndrome, is something that happens by chance. It is not typically inherited from either parent.
The majority of behavioural difficulties in people with Williams syndrome tend to relate to problems in attention and impulsivity. There is little evidence for self-injury in Williams syndrome.
The mental age of participants was assessed using the Woodcock-Johnson Test of Cognitive Ability-Revised (WJ-COG-R; Woodcock & Johnson, 1989–1990). The mean mental age of the entire sample was 6 years 3 months (range: 2.16–10.58 years), typical of the WS population.
Research tells us that autism tends to run in families, and a meta-analysis of 7 twin studies claim that 60 to 90% of the risk of autism comes from your genome. If you have a child with autism, you are more likely to have another autistic child. Your other family members are also more likely to have a child with ASD.
Common issues include: reflux, abdominal pain, constipation, diarrhea, irritable bowel syndrome, and dysmotility. Less common but significant issues include diverticulitis (at much younger age than is common in the general population)celiac disease, and gluten intolerance.
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).
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.
[2] Patients with Williams syndrome can live semi-independently or, in some cases, independently and are often able to work. As each individual with Williams syndrome has different needs, completion of an individualized life transition plan is recommended, preferably before the age of 13 or 14.
Treatment with gonadotropin-releasing hormone (GnRH) agonists may be considered. Although data are limited, buspirone has been shown to be effective in the treatment of generalized anxiety disorder in patients with Williams syndrome.
(7/15) The Myth: People with Williams syndrome can't/won't drive. Mythbuster: A small but growing number of individuals are obtaining licenses and drive themselves to work and around town daily – in cars or even a few on motorcycles.
Williams syndrome is caused by a missing segment (a 'deletion') of genetic material on chromosome 7. These deletions occur randomly. About one in every 20,000 babies is born with Williams syndrome. Males and females are equally affected, and the condition is found across all races and countries.
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No single dental finding was pathognomonic of WS, however patterns of oral findings may be characteristic of the syndrome. The most common constellation of findings -- microdontia, anterior crossbite, tongue thrusting, and excessive interdental spacing-- occurred in approximately one-third of all patients.
Mean heights for adult males and females with Williams syndrome were 159 and 152 cm, respectively. Thus, they are on average 18 and 12 cm shorter than reference British adult males and females.
People with Williams syndrome can develop physical and mental health problems later in life, including anxiety and depression. People with Williams syndrome are very talkative and can be excessively friendly.