Williams syndrome
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What is Williams syndrome

What is Williams syndrome

Williams syndrome is a rare genetic disorder present from birth that can cause mild to moderate delays in cognitive development or learning difficulties and health problems 1. Williams syndrome is characterized by mild to moderate intellectual disability or learning problems, unique personality characteristics that combines over-friendliness and high levels of empathy with anxiety, distinctive facial features, and heart and blood vessel (cardiovascular) problems 2. The most significant medical problem associated with Williams syndrome is cardiovascular disease caused by narrowed arteries. Williams syndrome is also associated with elevated blood calcium levels in infancy.

Williams Syndrome is caused by a microdeletion of genetic material from a specific region of chromosome 7, which includes the elastin gene, that does not form properly after conception. A random genetic mutation (deletion of a small piece of chromosome 7), rather than inheritance, most often causes the disorder. However, individuals who have Williams syndrome have a 50 percent chance of passing it on if they decide to have children. Williams syndrome affects an estimated 1 in 10,000 people worldwide – an estimated 20,000 to 30,000 people in the United States 2. Williams Syndrome is known to occur equally in both males and females and in every culture.

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). Affected individuals have outgoing, engaging personalities and tend to take an extreme interest in other people. Most older children and adults with Williams syndrome speak fluently and use good grammar. More than 50% of children with Williams syndrome have attention deficit disorders (ADD or ADHD), and about 50% have specific phobias, such as a fear of loud noises. The majority of individuals with Williams syndrome worry excessively. As children grow, they struggle with things like spatial relations, numbers, and abstract reasoning, which can make daily tasks a challenge. As adults, most people with Williams syndrome will need supportive housing to live to their fullest potential. Many adults with Williams syndrome contribute to their communities as volunteers or paid employees; often working at assisted living homes for senior citizens, hospitals and libraries, or as store greeters or veterinary aides.

As people with Williams syndrome mature – beyond the structure of school and family activities – they often experience intense isolation which can lead to depression. They are extremely sociable and experience the normal need to connect with others; however people with Williams syndrome often don’t process nuanced social cues and this makes it difficult to form lasting relationships.

Young children with Williams syndrome have distinctive facial features including a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips and a small chin. Many affected people have dental problems such as teeth that are small, widely spaced, crooked, or missing. In older children and adults, the face appears longer and more gaunt.

People with Williams syndrome are also likely to have a long neck, sloping shoulders, short stature, limited mobility in their joints, and curvature of the spine. Some individuals with Williams syndrome have a star-like pattern in the iris of their eyes. Infants with Williams syndrome are often irritable and colicky, with feeding problems that keep them from gaining weight. Chronic abdominal pain is common in adolescents and adults. By age 30, the majority of individuals with Williams syndrome have diabetes or pre-diabetes and mild to moderate sensorineural hearing loss (a form of deafness due to disturbed function of the auditory nerve). For some people, hearing loss may begin as early as late childhood. Williams syndrome also is associated with a characteristic “cognitive profile” of mental strengths and weaknesses composed of strengths in verbal short-term memory and language, combined with severe weakness in visuospatial construction (the skills used to copy patterns, draw, or write). Within language, the strongest skills are typically in concrete, practical vocabulary, which in many cases is in the low average to average range for the general population. Abstract or conceptual-relational vocabulary is much more limited.

A form of cardiovascular disease called supravalvular aortic stenosis (SVAS) occurs frequently in people with Williams syndrome. Supravalvular aortic stenosis is a narrowing of the large blood vessel that carries blood from the heart to the rest of the body (the aorta). If this condition is not treated, the aortic narrowing can lead to shortness of breath, chest pain, and heart failure. Other problems with the heart and blood vessels, including high blood pressure (hypertension), have also been reported in people with Williams syndrome.

Additional signs and symptoms of Williams syndrome include abnormalities of connective tissue (tissue that supports the body’s joints and organs) such as joint problems and soft, loose skin. Affected people may also have increased calcium levels in the blood (hypercalcemia) in infancy, developmental delays, problems with coordination, and short stature. Medical problems involving the eyes and vision, the digestive tract, and the urinary system are also possible.

Williams syndrome can’t be cured, but treatment can help manage the symptoms, especially if started early.

Because Williams syndrome is an uncommon and complex disorder, multidisciplinary clinics have been established at several centers in the United States. Treatments are based on an individual’s particular symptoms. People with Williams syndrome require regular cardiovascular monitoring for potential medical problems, such as symptomatic narrowing of the blood vessels, high blood pressure, and heart failure.

If your child has been diagnosed with Williams syndrome, you may want to contact the Williams Syndrome Foundation with your genetic test results and apply for membership:

Genetic counseling may help you understand the risks of passing Williams syndrome on to any children you have.

If we have more children, will they have Williams Syndrome?

It is extremely unlikely but not impossible that any further children will have Williams Syndrome. Recurrences are extremely rare 3. There is only one genetic way this could happen. This is that a parent might have a patch of cells in the ovary or testis with the chromosome 7 deletion already present and thus produce more than one egg or sperm with the deletion. But the Williams Syndrome Foundation’s professional medical panel have not seen any cases of this and there are almost none in records of the condition 3.

Could my child have mild or severe Williams Syndrome?

It is always tempting to hope that your child has a mild form of the condition. The fact is that the greater the positive input and treatment from an early age, the higher the likelihood of a fulfilling life.

My child has been diagnosed with Williams Syndrome. Does this mean they have a heart condition?

Many children reach the diagnosis of Williams Syndrome through their heart condition. If your child is diagnosed with Williams Syndrome because of another reason, they should be referred to a cardiologist to ensure they do not also have a heart problem. The cardiologist will then be able to clarify whether any tiredeness or breathing problems relate to their heart.

Could anyone else in my family have Williams Syndrome?

It is extremely unlikely but not impossible that anyone else in your family has Williams Syndrome. It is, however, sometimes the case that the geneticist who made the positive diagnosis will want to conduct tests on parents to see whether there are any anomalies or anything unusual in their genetic make-up.

My Williams Syndrome child has feeding problems. What do I do?

You should speak to your doctor or pediatrician and ask for advice and/or a referral to a relevant specialist. You should also ask about guidance on weaning issues and if necessary a referral to an occupational therapist for guidance on texture intolerance in eating. You can contact the Williams syndrome Foundation and put specific queries to the medical experts.

My Williams Syndrome child will not sleep. What can I do?

You should speak to your doctor or pediatrician and ask for advice and if necessary a referral to a relevant specialist. You may want to discuss medication to promote sleep if the medical professional thinks it appropriate. You can contact the Williams syndrome Foundation and put specific queries to the medical experts.

Will my child go into mainstream or special needs education?

Educational needs vary from child to child and must be based on expert advice and where the child will be happiest, best settled and, therefore, able to learn. It is often the case that people with Williams Syndrome move between mainstream and specialist education throughout their time in education, depending on what is best suited to them at the time.

When will my Williams Syndrome child go through puberty?

Some children with Williams Syndrome go through a so call “precocious” or early puberty. This is something to discuss with your doctor and if necessary ask for a referral to an endocrinologist (hormone specialist) for advice.

Can people with Williams Syndrome have a child/children of their own?

There are no significant physical reasons why people with Williams Syndrome cannot conceive normally, but their own health may pose a potential risk, particularly if they have a heart condition. There are also issues to consider about the reality of coping with pregnancy, birth and a child or children.

Lastly, Williams syndrome is considered an autosomal dominant condition because one copy of the altered chromosome 7 in each cell is sufficient to cause the disorder. What that means is that individuals who have Williams syndrome have a 50 percent chance of passing it on if they decide to have children.

When will a woman with Williams Syndrome go through menopause?

Some women with Williams Syndrome may go through an early menopause and advice should be sought from your doctor if this causes any problems.

My Williams Syndrome family member cannot cope with certain noises – why?

Hyperacusis or a heightened sensitivity to noise (pitch as well as volume) is very common in Williams Syndrome. It is not to be taken lightly; noises which others take for granted can be hugely distressing for people with Williams Syndrome; even laughter at a certain pitch can cause problems. You should discuss the matter with your doctor and if necessary ask for a referral to a sound therapy clinic or discuss the use of ear defenders. You can also contact the Williams Syndrome Foundation for advice from the professional medical panel.

Is there a recommended diet for people with Williams Syndrome?

There is no single recommended diet for people with Williams Syndrome. Infantile Hypercalcaemia, which can be a feature of childhood Williams Syndrome is treated with a low calcium diet. You should speak to your doctor and ask for referrals to a dietician and/or nutritionist.

My child has been diagnosed with Williams Syndrome and I/other family members have been told they must be blood-tested for it.

A geneticist who has made the positive Williams Syndrome diagnosis may want to conduct tests on parents to see whether there are any anomalies or anything unusual in their genetic make-up. You should ask the geneticist about this if it is suggested that you or other family members should be tested and ask them to explain exactly why they are requesting further tests.

Williams syndrome life expectancy

No studies exist on life expectancy but some 60 year olds with Williams syndrome are “alive & well” 4. Williams Syndrome does not generally cause a significant reduction in life expectancy unless there is a significant heart or kidney condition 3. The premature ageing of organs caused by the condition can mean that a person with Williams Syndrome, whilst able to enjoy a relatively long and healthy life, might not have the same life expectancy as a person without Williams Syndrome.

Williams syndrome prognosis

The prognosis for individuals with Williams syndrome varies. Some degree of impaired intellect is found in most people with the disorder. Some adults are able to function independently, complete academic or vocational school, and live in supervised homes or on their own; most live with a caregiver. Parents can increase the likelihood that their child will be able to live semi-independently by teaching self-help skills early. Early intervention and individualized educational programs designed with the distinct cognitive and personality profiles of Williams syndrome in mind also help individuals maximize their potential. Medical complications associated with the disorder may shorten the lifespans of some individuals with Williams syndrome.

Williams syndrome signs and symptoms

There are many physical features and medical challenges which are fairly common to Williams syndrome. However, every child is an individual – the number of features present, and which features are present varies from child to child.

Common features of Williams syndrome include:

Characteristic facial appearance

Most young children with Williams syndrome are described as having similar facial features. These features include a small upturned nose, long philtrum (upper lip length), wide mouth, full lips, small chin, and puffiness around the eyes. Blue and green-eyed children with Williams syndrome can have a prominent “starburst” or white lacy pattern on their iris. Facial features become more apparent with age.

Heart and blood vessel problems

The majority of individuals with Williams syndrome have some type of heart or blood vessel problem. Congenital heart defects occur in approximately 75 percent of children with Williams syndrome. The most frequent defect is supravalvar aortic stenosis (SVAS), a condition characterized by the narrowing of the aorta above the aortic valve. The aorta is the main artery of the vascular system. Blood passes from the left ventricle of the heart, through the aortic valve, and into the aorta. In supravalvar aortic stenosis, the area above the aortic valve becomes unusually narrow. Symptoms may include fatigue, pain in the chest, dizziness, unusual heart sounds (murmurs) and/or temporary loss of consciousness (syncope). There is a broad range in the degree of narrowing, ranging from trivial to severe (requiring surgical correction of the defect).

Additional congenital heart defects associated with Williams syndrome may include pulmonary artery stenosis, and/or septal defects. Abnormally high blood pressure (hypertension) is also common in adults with Williams syndrome. Since there is an increased risk for development of blood vessel narrowing or high blood pressure over time, periodic monitoring of cardiac status is necessary.

Hypercalcemia (elevated blood calcium levels)

Some young children with Williams syndrome have elevations in their blood calcium level. The true frequency and cause of this problem is unknown. When hypercalcemia is present, it can cause extreme irritability or “colic-like” symptoms. Occasionally, dietary or medical treatment is needed. In most cases, the problem resolves on its own during childhood, but lifelong abnormality in calcium or Vitamin D metabolism may exist and should be monitored.

Low birth-weight / slow weight gain

Most children with Williams syndrome have a slightly lower birth-weight than their brothers or sisters. Slow weight gain, especially during the first several years of life, is also a common problem and many children are diagnosed as “failure to thrive”. Adult stature is smaller than average

Feeding difficulty (generally limited to the early years)

Many infants and young children have feeding problems. These problems have been linked to low muscle tone, severe gag reflex, poor suck/swallow, tactile defensiveness etc. Feeding difficulties tend to resolve as the children get older.

Irritability (colic during infancy)

Many infants with Williams syndrome have an extended period of colic or irritability. This typically lasts from 4 to 10 months of age, then resolves. Abnormal sleep patterns with delayed acquisition of sleeping through the night may be associated with the colic. Extreme irritability may also be caused by hypercalcemia in some children with Williams syndrome.

Dental abnormalities

Slightly small, widely spaced teeth are common in children with Williams syndrome. They also may have a variety of abnormalities of occlusion (bite), tooth shape or appearance. Most of these dental changes are readily amenable to orthodontic correction.

Kidney abnormalities

There is a slightly increased frequency of problems with kidney structure and/or function.


Inguinal (groin) and umbilical hernias are more common in Williams syndrome than in the general population.

Hyperacusis (sensitive hearing)

Children with Williams syndrome often have more sensitive hearing than other children; certain frequencies or noise levels can be painful and/or startling to the individual. This condition often improves with age.

Musculoskeletal problems

Young children with Williams syndrome often have low muscle tone and joint laxity. As the children get older, joint stiffness (contractures) may develop. Physical therapy is very helpful in improving muscle tone, strength and joint range of motion.

Overly friendly (excessively social) personality

Individuals with Williams syndrome have a very endearing personality. They have a unique strength in their expressive language skills, and are extremely polite. They are typically unafraid of strangers and show a greater interest in contact with adults than with their peers.

Developmental delay, learning challenges and attention deficit disorder

Most people with Williams syndrome will have mild to severe learning differences and cognitive challenges. Young children with Williams syndrome often experience developmental delays. Milestones such as walking, talking and toilet training are often achieved somewhat later than is considered normal. Distractibility is a common problem in mid-childhood, which can improve as the children get older.

Older children and adults with Williams syndrome often demonstrate intellectual “strengths and weaknesses.” There are some intellectual areas (such as speech, long term memory, and social skills) in which performance is quite strong, while other intellectual areas (such as fine motor and spatial relations) show significant weakness.

Williams syndrome causes

Williams syndrome is caused by the deletion of genetic material from a specific region of chromosome 7 1. The deleted region includes 26 to 28 genes, and researchers believe that a loss of several of these genes probably contributes to the characteristic features of Williams syndrome.

CLIP2, ELN, GTF2I, GTF2IRD1, and LIMK1 are among the genes that are typically deleted in people with Williams syndrome. Researchers have found that loss of the ELN gene is associated with the connective tissue abnormalities and cardiovascular disease (specifically supravalvular aortic stenosis) found in many people with this disease. Studies suggest that deletion of CLIP2, GTF2I, GTF2IRD1, LIMK1, and perhaps other genes may help explain the characteristic difficulties with visual-spatial tasks, unique behavioral characteristics, and other cognitive difficulties seen in people with Williams syndrome. Loss of the GTF2IRD1 gene may also contribute to the distinctive facial features often associated with this condition.

Researchers believe that the presence or absence of the NCF1 gene on chromosome 7 is related to the risk of developing hypertension in people with Williams syndrome. When the NCF1 gene is included in the part of the chromosome that is deleted, affected individuals are less likely to develop hypertension. Therefore, the loss of this gene appears to be a protective factor. People with Williams syndrome whose NCF1 gene is not deleted have a higher risk of developing hypertension.

The relationship between other genes in the deleted region of chromosome 7 and the signs and symptoms of Williams syndrome is under investigation or unknown.

Williams syndrome inheritance pattern

Most cases of Williams syndrome are not inherited but occur as random events during the formation of reproductive cells (eggs or sperm) in a parent of an affected individual. These cases occur in people with no history of the disorder in their family.

Williams syndrome is considered an autosomal dominant condition because one copy of the altered chromosome 7 in each cell is sufficient to cause the disorder. In a small percentage of cases, people with Williams syndrome inherit the chromosomal deletion from a parent with the condition.

Williams syndrome diagnosis

The diagnosis of Williams syndrome generally has two parts:

Clinical diagnosis based on a variety of Williams syndrome characteristics.
Medical/genetic test confirmation through a DNA test which will be performed on a small amount of blood from the child. There are two DNA tests which can determine if a person has Williams syndrome.

The FISH test

You can obtain a blood test to confirm the clinical diagnosis of Williams syndrome. A laboratory can use the technique known as fluorescent in situ hybridization (FISH).

Fluorescent in situ hybridization (FISH) is a type of specialized chromosome analysis utilizing specially prepared elastin probes. If a patient has 2 copies of the elastin gene (one on each of their chromosomes number 7), they probably do not have Williams syndrome. If the individual only has one copy, the diagnosis of Williams syndrome will be confirmed.

Virtually all (98-99%) persons with typical features of Williams syndrome will have a deletion of the elastin gene.

In more technical terms:

Williams syndrome is the result of a deletion of the 7q11.23 region of chromosome number 7 containing the elastin gene. Williams syndrome is a contiguous gene syndrome – all of the deleted genes “line up” in the Williams syndrome “critical region”. Diagnosis of Williams syndrome is confirmed by dual color FISH using a specific probe and a control probe.

The laboratory will need 5 ml of blood drawn in a Sodium heparin tube. The sample should arrive in the lab the same day it was drawn or on the following day. Results are usually available in 2-4 weeks.

The FISH test is readily available at major hospitals and Cytogenetics laboratories around the country, but it is not a routine test. Therefore not all labs will do FISH-based diagnosis. Families or their physicians should call the lab in advance to make sure they can perform the test.

If you have any doubts that a child may have Williams syndrome, the FISH test will give you a clear cut answer in most cases.

It is important to stress that Williams syndrome is a genetic diagnosis and an individual who does not have the gene deletion does not have Williams syndrome (i.e. a person who was clinically diagnosed with Williams syndrome but was later found not be have a deletion in fact does NOT have Williams syndrome).

NOTE: It is extremely unlikely that any other family member also has Williams syndrome. On the other hand, if the individual with Williams syndrome plans to become a parent, there is a 50/50 chance that his or her child will have Williams syndrome. If such a situation should arise, consult an obstetrician about using the FISH test for prenatal testing of the embryonic cells.

The Microarray

A chromosomal microarray is a newer diagnostic tool that uses millions of markers to determine if there are missing pieces or extra pieces of DNA anywhere in the person’s chromosomes. This test is slower but gives more information about how big the missing piece is, which may affect how severe the child’s condition will be.

Williams syndrome treatment

There is no single treatment or therapy used for Williams Syndrome, but different treatments and therapies such as physiotherapy, occupational therapy, speech therapy, music therapy, specialist advice and psychological therapy can help to address some of the issues associated with the condition. There are also many physical problems such as heart problems, as only one example, which can be treated. Not everyone with Williams Syndrome will need every therapy or treatment but evidence shows the earlier intervention starts, the better the future prospects.

Therapeutic Interventions

Nearly every individual with Williams syndrome will benefit from therapeutic intervention to help overcome developmental delays, joint problems, fine motor issues and other characteristics common to Williams syndrome. Your physician can help you determine the need for therapy or provide a referral to have your child evaluated by a therapeutic service provider. It is important to start therapies as soon as possible to gain the most benefit.

Most school-aged children can receive therapy services as part of their individualized education program (IEP). Services provided by a school district will be paid for by the district. However, districts will only provide therapy to overcome weaknesses that are a “road block” to a child’s successful education. For some delays, private services are the only answer.

Physical therapy

Children with Williams syndrome can have balance problems and weak muscle tone. Physical therapy will address gross motor skill development in children with Williams syndrome.

Physical therapy should be provided by a licensed Physical Therapist. You can obtain more information about Physical therapy by visiting the website of the American Physical Therapy Association (

Occupational therapy

Children with Williams syndrome often have visual-spatial deficits and difficulty with fine muscle control, such as picking up small objects. Occupational therapy primarily addresses fine motor skill development in children with Williams syndrome, but is also your source for help with feeding issues and sensitivity to textures.

Occupational therapy should be provided by a licensed Occupational Therapist. You can obtain more information about Occupational therapy by visiting the website of the American Occupational Therapy Association (

Speech therapy

Onset of speech is often delayed in children with Williams syndrome and articulation can be affected by muscle tone issues. Once speech has been acquired children often experience difficulties with processing information. A speech therapist can address all speech/language related issues.

Speech therapy should be provided by a licensed Speech Therapist. You can obtain more information about Speech therapy in your state by visiting the website of the American Speech-Language-Hearing Association (

The American Academy of Pediatrics has published guidelines for the Medical Care of Children with Williams syndrome here:

Williams Syndrome Foundation’s Guidelines for Parents is available here:

Infants with Williams syndrome who have elevated levels of calcium in their blood may be placed on a diet that restricts the intake of vitamin D. Calcium intake may also be restricted. For those children with severe hypercalcemia, treatment with a corticosteroid drug (e.g., prednisone) may be considered on a temporary basis. After the age of about 12 months, calcium levels typically return to normal, even in untreated infants. It is recommended that children with Williams Syndrome also be evaluated by a physician who specializes in endocrine disorders (endocrinologist).

Affected children, who have symptoms related to heart defects, should receive a comprehensive evaluation at a hospital that is familiar with these rare congenital heart conditions. Specialized tests may be performed to determine the severity and exact location of congenital heart defects (i.e., EKG, echocardiogram, or cardiac catheterization). Some children with Williams Syndrome who have severe heart defects may require surgical treatment to repair the defect.

Centers for developmentally disabled children and special education services in schools may be beneficial for children with Williams syndrome to reach their personal potential. A supportive team approach may also be helpful including speech and language therapy, occupational and physical therapy, social services, and/or vocational training. Music therapy has been advocated, thought not proven, as providing enhanced learning and relief from anxiety in individuals with Williams syndrome.

Genetic counseling may be of benefit for people with Williams syndrome and their families. Other treatment is symptomatic and supportive.

Williams syndrome adults medical issues

Adults with Williams syndrome can live active and fulfilling lives. Some people will find paid work, and some will be able to live semi-independently. But new health issues can arise, with anxiety, depression, diabetes, hearing difficulties, dental problems and gastrointestinal problems all more common than in other adults of the same age.

As individuals with Williams syndrome age, they will often have new medical issues. Anxiety, depression, diabetes and gastro-intestinal disorders are not uncommon. The following is a compilation of unique issues concerning adults with Williams syndrome.

Potential Areas of Concerns for Adults with Williams syndrome

  • ENT (ear, nose and throat) / Audiologic
  • Endocrine
  • Dental
  • Gastrointestinal
  • Anxiety & other emotional problems
  • Accelerated aging – “appears” to be a characteristic (possibly related to elastin deletion)

Yale Study on Adults with Williams syndrome

  • Recruited 20 Williams syndrome adults over 30 yrs old (& their families) to spend 2-3 days Yale CCRC
  • Underwent battery of medical, cognitive and MRI tests
  • 10 Males and 10 Females
  • Average age = 38.8 yrs (range 30-51)
  • Average age of clinical diagnosis = 23 yrs
  • Variety of reasons for study participation

ENT / Audiologic issues in adults

Only a few published studies on ENT/Audiologic issues in adults

Clinical Implications:

  • Few patients/parents were aware of hearing loss prior to audiologic testing @ Yale
  • Hyperacusis not ongoing clinical concern
  • Problem with ear wax build-up in majority of patients:
    • recurring problem
    • many patients require ENT (ear, nose and throat) “clean-out”
    • has negative impact on daily functioning
  • Majority of Williams syndrome adults >30 yrs old mild to moderate high frequency sensorineural hearing loss
  • This type of hearing loss,”presbycusis”, is normal phenomenon of aging but appears to be developing prematurely in Williams syndrome
  • Suspect that deletion of gene in Williams syndrome critical region confers susceptibility to early onset sensorineural hearing loss
  • Major limitation is lack of longitudinal followup:
    • audiograms on other younger Williams syndrome children do not show this pattern
  • Need to be vigilant and screen for hearing loss
  • Moderate high frequency loss can negatively impact daily function
  • Some Williams syndrome adults benefit from hearing aid
  • Recommend adults with Williams syndrome have audiologic evaluations every 1-2 yrs,
    • sooner if symptoms warrant
    • further apart once stable pattern is documented
    • monitoring for wax build-up

Reported Endocrine Problems in Williams syndrome

  • Growth failure
  • Early puberty
  • Hypercalcemia
  • Hypothyroidism
  • Diabetes mellitus
  • Recommendations

NOTE: * = (>30 years of age)

Researchers performed chart review of 52 Williams syndrome patients seen at Yale who had complete thyroid blood work

Among children:

  • increased frequency of hypothyroidism (underactive thyroid) that requires treatment;
  • increased frequency of “subclinical” hypothyroidism (thyroid gland produces enough thyroid hormone but in response to a boosted signal from the brain)

Among adults:

  • Increased frequency of hypothyroidism (underactive thyroid)
  • Increased frequency “subclinical” hypothyroidism (thyroid gland produces enough thyroid hormone but in response to a boosted signal from the brain)
  • Several adults receiving treatment for subclinical hypothyroidism which may not be needed

Check thyroid functions (including TSH) upon diagnosis of Williams syndrome

  • If normal, check every few years
  • If hypothyroidism, perform appropriate diagnostic work-up & treat with thyroid hormone replacement
  • If subclinical hypothyroidism, consult endocrinologist & monitor regularly

Reports of diabetes in adults with Williams syndrome

  • An increased frequency of Impaired Glucose Tolerance and Silent Diabetes in Williams syndrome vs matched controls.
  • Abnormality occurs in Williams syndrome adults & adolescents.
  • Major risk factor appears to be Williams syndrome
    •  being overweight is additional risk
  • Speculate absence of a gene in Williams syndrome , possibly STX1A gene, contributes to abnormal glucose tolerance.
  • Perform OGTT (oral glucose tolerance test) on adults with Williams syndrome.
  • Avoid large glucose loads over short time period.
  • Avoid diabetogenic drugs.
  • Prevent excess weight gain.
  • Continue “active” lifestyle.
  • Treatment guidelines under discussion.

Weight gain

Most youngsters with Williams syndrome are “thin”

In adults doctors observe:

  • ~1/2 remain thin
  • ~1/2 gain weight in central (pear-shaped) distribution
  • small proportion have “myxedema” of legs

Experts do not know cause of weight gain, could be:

  • genetic predisposition
  • lifestyle

Dental Problems in Adults

  • Increased frequency of malocclusion, missing teeth, malformed teeth and malaligned teeth
  • Almost universal problem is poor dental hygiene leading to tooth cavities, gum disease and extractions (probably due to poor visual spatial motor skills)
  • Among 20 Yale research study adults (>30 yrs):
    • Good hygiene – 2/20
    • Fair hygiene – 8/20
    • Poor hygiene – 9/20
    • Not assessed – 1/20

Recommendations for Dental Care

  • Weekly parent/caregiver supervision of brushing
  • Parent/caregiver assistance with flossing
  • Electronic toothbrush
  • Dental cleanings every 3-4 months, rather than 6 month intervals

Gastrointestinal problems

GI (gastrointestinal) problems very common (based on medical literature and experts observations)

Most common gastrointestinal problems reported:

  • Abdominal pain
  • Constipation
  • Diverticulitis

GI (gastrointestinal) problems among 20 Yale research study adults:

  • Any gastrointestinal problems = 15/20
  • Abdominal pain = 8/20
  • Constipation = 9/20
  • Diarrhea = 8/20
  • Diverticulitis = 5/20
  • Bowel surgery = 6/20

Prevention /Management of GI problems

  • Prevent chronic constipation!!
  • Use dietary supplements
  • Use medication, under the supervision of a doctor
  • Prompt medical evaluation of “heartburn”, weight loss, abdominal pain (especially with fever), change in bowel habits
  • Cause of chronic abdominal pain not always found; consider “biofeedback techniques” once medical disease is excluded

Published Adult Behavioral Profiles

Diagnoses by direct psychiatric interview – 20 Adult subjects

Diagnoses by direct interview by Yale psychiatrist – 20 Adult subjects

Psychiatric Diagnosis

  • Most adults have anxiety disorder that waxes and wanes over time; truly incapacitating in minority
    • Mild anxiety (= 2/20)
    • Moderate anxiety (= 9/20)
    • Severe anxiety (= 2/20)
    • Specific phobia (= 6/20)
    • Depression (= 2/20)
    • Obsessive compulsive disorder (= 1/20)
    • Sexual impulse control problem (= 1/20)
    • Panic attacks (= 1/20)
  • Most have phobias (thunderstorms, escalators)
    • ~20% experience depressive episode(s)
    • <10% obsessive compulsive or sexual impulse control disorder
    • ~5% experience serious psychiatric problems � psychiatric hospitalization
    • Problems ameliorate with multi-faceted treatment
  • Anxiety disorder therapy
    • Counseling / Therapy
    • Biofeedback / Relaxation techniques
    • Anti-anxiety medication
    • Use very low doses of medication! People with Williams syndrome seem sensitive to many of these medications
  • All other disorders
    • Psychiatric evaluation, therapy, behavior modification, medication

Possible Accelerated Aging in Williams syndrome

  • Parental concerns about accelerated physical and cognitive aging
  • Medical evidence for premature aging
  • Premature greying of hair
    • 19/20 Yale adult research study subjects
      • Average age of greying= 29 yrs (16-41)
  • Presbycusis
  • Diabetes?
  • Wrinkling of skin?

Possible Accelerated cognitive aging

  • Possible evidence of accelerated cognitive aging
  • Evidence of decline in IQ over time
  • No evidence of memory loss
  • MRI changes suggestive of aging
  • Clinically, older persons don’t seem as “sharp” as when younger
  • Need more studies.

Living Arrangements & Employment Among 20 Yale Research Study Adults

Current living arrangements:

  • Parents 8/20
  • Group home 5/20
  • Supervised apartment 5/20
  • Retirement community 2/20

Current employment (average hrs/week=23)

  • Paid, unsupervised 1/20
  • Paid, supervised 6/20
  • Sheltered workshop 7/20
  • Not employed 6/20
  1. Williams syndrome.
  2. What is Williams Syndrome?
  4. Adult Medical Issues.
Health Jade Team

The author Health Jade Team

Health Jade