This is my first blog and my first blog entry. This is a learning experience for me, so this will probably not be perfect right out of the gate so to speak. This will be an adventure for me learning how to write and manage a blog.

This blog is mainly about me and my life with Williams Syndrome but there will be entries talking about a variety of topics also.

The reason why I decided to start this blog is that not a lot of people know about my disability. The main reason is that it is not as talked about as Autism or Down’s Syndrome.

I want this blog to be treated and respected as a safe and welcome place for individuals with, family members and loved ones of, supports of someone with Williams Syndrome, also anyone who is interested in learning about or learning more about Williams Syndrome are welcome.

I also want everyone to know that you can ask anything but anyone who writes inappropriate questions or comments will be given ONE warning then I will block you.

Below I have shared some general information about what Williams Syndrome is, how it affects those who have WS and other information on WS. I will write a later blog entry about me and my WS.

What is Williams Syndrome?


Williams Syndrome (WS) is a developmental disorder that affects many parts of the body. Facial features frequently include a broad forehead, short nose and full cheeks, an appearance that has been described as “elfin”. Mild to moderate intellectual disability with visual-spatial tasks such as drawing and fewer problems with language is typical. Those affected often have an outgoing personality and interact readily with strangers. Problems with teeth, heart problems, especially supravalvular aortic stenosis, and periods of high blood calcium are common.

Williams syndrome is caused by a genetic abnormality, specifically a deletion of about 27 genes from the long arm of one of the two chromosome 7s. Typically this occurs as a random event during the formation of the egg or sperm from which a person develops. On rare occasions, it is inherited from an affected parent in an autosomal dominant manner. The diagnosis is typically suspected based on symptoms and confirmed by genetic testing.

Treatment includes special education programs and various types of therapy. Surgery may be done to correct heart problems. Dietary changes or medications may be required for high blood calcium.

The syndrome was first described in 1961 by New Zealander John C.P. Williams. Williams syndrome affects between 1 in 7,500 to 1 in 20,000 people at birth. Life expectancy is less than that of the general population, mostly due to the increased rates of heart disease.

Signs & Symptoms

The most common symptoms of Williams Syndrome are heart defects and unusual facial features. Other symptoms include failure to gain weight appropriately in infancy (failure to thrive) and low muscle tone. Individuals with Williams syndrome tend to have widely spaced teeth, a long philtrum, and a flattened nasal bridge.

Most individuals with Williams syndrome are highly verbal relative to their IQ, and are overly sociable, having what has been described as a “cocktail party” type personality. Individuals with Williams Syndrome hyperfocus on the eyes of others in social engagements.


Individuals with Williams syndrome often have hyperacusia and phonophobia which resembles noise-induced hearing loss, but this may be due to a malfunctioning auditory nerve. However, individuals with WS can also tend to demonstrate a love of music, and they appear significantly more likely to possess absolute pitch. There also appears to be a higher prevalence of left-handedness and left-eye dominance.

Ophthalmologic issues are common in Williams syndrome. Up to 75% of subjects in some studies have strabismus (ocular misalignment), particularly esotropia, due to inherent subnormal binocular visual function and cognitive deficits in visuospatial construction. Individuals with Williams syndrome have problems with visual processing, but this is related to difficulty in dealing with complex spatial relationships rather than depth perception per se.

Nervous System

Because of the multiple genes that are missing in people with Williams Syndrome, there are many effects on the brain, including abnormalities in the cerebellum, right parietal lobe, and left frontal cortical regions. This pattern is consistent with the visual-spatial disabilities and problems with behavioral timing often seen in Williams Syndrome.

People with Williams syndrome often exhibit gross motor difficulties, including trouble walking downstairs, as well as overactive motor reflexes (hyperreflexia) and hyperactive, involuntary movement of the eyes (nystagmus). The parietal-dorsal area handles visual processing that supports visual-spatial analysis of the environment, while the ventral is related to semantic recognition of visual stimuli, as well as the recognition of faces.

People with Williams syndrome are often affable and hyperverbal, demonstrating the decreased inhibition ability that stems from dorsal-frontal deficits. Some studies suggest that the amygdala of a person with Williams syndrome has a greater volume than the average person’s (though it is smaller than average in childhood).

In general, neuroimaging studies demonstrate that individuals with Williams Syndrome have diminished amygdala reactivity in response to socially frightening stimuli (such as disapproving faces) but demonstrate hyperreactivity in the amygdala when presented with nonsocial fear stimuli (such as frightening animals).

This may partially account for the apparent absence of social inhibition observed in individuals with the syndrome, as well as the prevalence of anxious symptoms (but see fear for details on the relationship between the amygdala and fear response). There is also evidence that individuals with Williams exhibit hyper amygdala activity when viewing happy facial expressions.

Increased volume and activation of the left auditory cortex has been observed in people with Williams syndrome, which has been interpreted as a neural correlate of patients’ rhythm propensity and fondness for music. Similar sizes of the auditory cortex have been previously reported only in professional musicians.


Research on the development of the syndrome suggests that congenital heart disease is typically present at an early age, often at the infant’s first pediatric appointment. Heart problems in infancy often lead to the initial diagnosis of Williams syndrome.

Williams syndrome is also marked by a delay in development of motor skills. Infants with Williams develop the ability to lift their heads and sit without support months later than typically developing children. These delays continue into childhood, where patients with Williams syndrome are delayed in learning to walk. In young children, the observed motor delay is around five to six months, though some research suggests that children with Williams syndrome have a delay in development that becomes more extreme with age.

Children with motor delays as a result of Williams syndrome are particularly behind in development of coordination, fine motor skills such as writing and drawing, response time, and strength and dexterity of the arms. Impaired motor ability persists (and possibly worsens) as children with Williams syndrome reach adolescence.

Hypertension, gastrointestinal problems, and genitourinary symptoms often persist into adulthood, as well as cardiovascular problems. Adults with Williams syndrome are typically limited in their ability to live independently or work in competitive employment settings, but this developmental impairment is attributed more to psychological symptoms than physiological problems.

Social and psychological

Individuals with Williams Syndrome report higher anxiety levels as well as phobia development, which may be associated with hyperacusis (high sensitivity to certain frequencies of sound).

Compared with other children with delays, those with Williams syndrome display a significantly greater number of fears. 35% of these children met the DSM definition of having a phobia as compared with 1–4.3% for those with other types of developmental delays.

Williams Syndrome is also strongly associated with attention deficit hyperactivity disorder and related psychological symptoms such as poor concentration, hyperactivity, and social disinhibition.

Furthermore, cognitive abilities (IQs) of individuals with WMS typically range from mild-to-moderate levels of intellectual disability. One study of 306 children with Williams syndrome found IQ scores ranging from 40 to 112 with a mean of 69.32 (an IQ score of 100 is the average in nonaffected populations).IQ scores above this range have been reported in individuals with smaller genetic deletions.

In particular, individuals with Williams Syndrome experience challenges in visual-motor skills and visuospatial construction. Most affected individuals are unable to spatially orient themselves and many experience difficulties when given a task that requires even the most basic visual problem-solving. Many adults with Williams syndrome cannot complete a simple six-piece puzzle designed for young children, for example. These visuospatial deficits may be related to damage to the dorsal cortical pathway for visual processing.

Despite their physical and cognitive deficits, individuals with Williams Syndrome exhibit impressive social and verbal abilities. Williams patients can be highly verbal relative to their IQ. When children with Williams syndrome are asked to name an array of animals, they may well list such a wild assortment of creatures as a koala, saber-toothed cat, vulture, unicorn, sea lion, yak, ibex and Brontosaurus, a far greater verbal array than would be expected of children with IQs in the 60s. Some other strengths that have been associated with Williams syndrome are auditory short-term memory and facial recognition skills.

The language used by individuals with Williams syndrome differs notably from unaffected populations, including individuals matched for IQ. People with Williams syndrome tend to use speech that is rich in emotional descriptors, high in prosody (exaggerated rhythm and emotional intensity) and features unusual terms and strange idioms.

Among the hallmark traits of individuals with Williams Syndrome is an apparent lack of social inhibition.

Dykens and Rosner (1999) found that

100% of those with Williams syndrome were kind-spirited

90% sought the company of others

87% empathize with others’ pain, 84% are caring

83% are unselfish/forgiving

75% never go unnoticed in a group

75% are happy when others do well.

Infants with Williams syndrome make normal and frequent eye contact, and young children with Williams will often approach and hug strangers. Individuals affected by Williams syndrome typically have high empathy and are rarely observed displaying aggression. In regard to empathy, they show relative strength in reading people’s eyes to gauge intentions, emotions, and mental states.

The level of friendliness observed in people with Williams is often inappropriate for the social setting, however, and teens and adults with Williams syndrome often experience social isolation, frustration, and loneliness despite their clear desire to connect to other people.

While these children often came off as happy due to their sociable nature, often there are internal drawbacks to the way they act. 76–86% of these children were reported as believing that they either had few friends or problems with their friends.

This is possibly due to the fact that although they are very friendly to strangers and love meeting new people, they may have trouble interacting on a deeper level.

73-93% were reported as unreserved with strangers

67% highly sensitive to rejection

65% susceptible to teasing

The statistic for exploitation and abuse was unavailable.

This last one is a significant problem. People with Williams Syndrome are frequently very trusting and want more than anything to make friends, leading them to submit to requests that under normal circumstances would be rejected. There are external problems as well.

91–96% demonstrate inattention

75% impulsivity

59–71% hyperactivity

46–74% tantrums

32–60% disobedience

25–37% fighting and aggressive behavior

In one experiment, a group of children with Williams Syndrome showed no signs of racial bias, unlike children without the syndrome. They did show gender bias, however, suggesting separate mechanisms for these biases.

Williams syndrome is a microdeletion syndrome caused by the spontaneous deletion of genetic material from chromosome 7 the deleted region includes more than 25 genes, and researchers believe that being hemizygous for these genes probably contributes to the characteristic features of this syndrome.

Researchers have found this hemizygosity for the ELN gene, which codes for the protein elastin, is associated with the connective-tissue abnormalities and cardiovascular disease (specifically supra valvular aortic stenosis and supra valvular pulmonary stenosis) found in many people with this syndrome.

The insufficient supply of elastin may also be the cause of full cheeks, harsh or hoarse voice, hernias and bladder diverticula often found in those with Williams Syndrome. Studies suggest that hemizygosity, and perhaps other genes may help explain the characteristic difficulties with visual-spatial tasks.

Additionally, there is evidence that the hemizygosity in several of these genes, including CLIP2, may contribute to the unique behavioral characteristics, learning disabilities and other cognitive difficulties seen in Williams Syndrome.


According to the Williams Syndrome Association, diagnosis of Williams Syndrome begins with the recognition of physical symptoms and markers, which is followed by a confirmatory genetic test. The physical signs that often indicate a suspected case of Williams syndrome include puffiness around the eyes, a long philtrum, and a stellate pattern in the iris.

Physiological symptoms that often contribute to a Williams Syndrome diagnosis are cardiovascular problems, particularly aortic or pulmonary stenosis, as well as feeding disturbance in infants. Developmental delays are often taken as an initial sign of the syndrome, as well.

This confirmatory genetic test has been validated in epidemiological studies of the syndrome and 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 (which, while common, are not always present).

Some diagnostic studies suggest that reliance on facial features to identify Williams syndrome may cause a misdiagnosis of the condition. Among the more reliable features suggestive of Williams are congenital heart disease, periorbital fullness (“puffy” eyes), and the presence of a long smooth philtrum. Less reliable signs of the syndrome include anteverted nostrils, a wide mouth, and an elongated neck. Researchers indicate that even with significant clinical experience, it is difficult to reliably identify Williams syndrome based on facial features alone.


There is no cure for Williams syndrome. Suggestions include avoidance of extra calcium and vitamin D, as well as treating high levels of blood calcium. Blood vessel narrowing can be a significant health problem and is treated on an individual basis.

Physical therapy is helpful to patients with joint stiffness and low muscle tone. Developmental and speech therapy can also help children and increase the success of their social interactions. Other treatments are based on a patient’s particular symptoms.

The American Academy of Pediatrics recommends annual cardiology evaluations for individuals with Williams syndrome.

Other recommended assessments include:

ophthalmologic evaluations

an examination for an inguinal hernia

objective hearing assessment

blood pressure measurement

developmental and growth evaluation

orthopedic assessments on joints

muscle tone

ongoing feeding and dietary assessments to manage constipation and urinary problems

Behavioral treatments have been shown to be effective. In regard to social skills, it may be effective to channel their nature by teaching basic skills. Some of these are the appropriate way to approach someone, how and when to socialize in settings such as school or the workplace, and warning of the signs and dangers of exploitation.

For the fear that they demonstrate cognitive-behavioral approaches, such as therapy, are the recommended treatment. One of the things to be careful of with this approach is to make sure that the patients’ charming nature does not mask any underlying feelings.

Perhaps the most effective treatment for those with Williams Syndrome is music. Those with Williams syndrome have shown a relative strength in regard to music, albeit only in pitch and rhythm tasks. Not only do they show a strength in the field but also a particular fondness for it.

It has been shown that music may help with the internal and external anxiety that these people are more likely to be afflicted with. Something of note is that the typical person processes music in the superior temporal and middle temporal gyri. Those with Williams Syndrome have a reduced activation in these areas but an increase in the right amygdala and cerebellum.

People affected by Williams Syndrome are supported by multiple organizations, including the Canadian Association for Williams Syndrome and the Williams Syndrome Registry.


Williams syndrome has historically been estimated to occur in roughly 1 in every 20,000 live births. However, more recent epidemiological studies have placed the occurrence rate at closer to 1 in every 7,500 live births, a significantly larger prevalence.

As an increasing body of evidence suggests that Williams Syndrome is more common than originally noted (approximately 6% of all genetic cases of developmental disability), researchers have begun to theorize past under-diagnosis of the syndrome.

One theorized reason for the increase in epidemiological estimates is that there exists a substantial minority of individuals with the genetic markers of Williams Syndrome who lack the characteristic facial features, or the diminished IQ considered to be diagnostic of the syndrome, who often are not immediately recognized as people with the syndrome.


Williams Syndrome was first described by J. C. P. Williams and his colleagues, who wrote in 1961 of four patients with supra valvular aortic stenosis, mental disability, and facial features including a broad forehead, large chin, low-set, “drooping” cheeks, widely spaced eyes, and a wide-set mouth. A year after this report, German physician A. J. Beuren described three new patients with the same presentation.

This led to the syndrome’s full original name of Williams-Beuren syndrome, which is still used in some medical publications. From 1964 to 1975, small research reports broadened medical knowledge of this syndrome’s cardiovascular problems. Then in 1975, K. Jones and D. Smith conducted a large-scale report on numerous patients with Williams syndrome, ranging in age from infancy to adulthood, and described the behavioral and observable physical symptoms in greater detail than previously recorded.

Society and culture

The adjective “elfin” may have originated to describe the facial features of people with Williams syndrome; before Williams Syndrome’s scientific cause was understood, people believed that individuals with the syndrome, who have exceptionally charming and kind personalities, had extraordinary, even magical, powers. This is often believed to be the origin of the folklore of elves, fairies and other forms of the ‘good people’ or ‘wee folk’ present in English folklore.