Williams Syndrome

• Jane Adams• Suellen Sharp• Courtney Thorman• Bethany Whidden

What is Williams Syndrome?

• A rare genetic condition that causes medical and developmental problems

• 1 in 7,500 births

Etiology

• Deletion of multiple (20 to 30) genes, including the elastin gene on chromosome #7

• Elastin (ELN) provides strength and elasticity to vessel walls

• The deletion of the elastin gene likely accounts for many of the physical features of Williams syndrome

Etiology

• Additional medical problems associated with Williams syndrome are probably related to the deletion of genetic material near the elastin gene on chromosome #7.

• Typically, a child with Williams syndrome is the only one to have the condition in his/her family

• Persons with Williams syndrome have a 50% chance of passing on the condition

Common Features of Williams Syndrome

• Characteristic facial appearance• Heart and blood vessel problems• Hypercalcemia• Low birth-weight/low weight gain• Feeding problems• Irritability• Dental abnormalities• Kidney abnormalities• Hernias• Hyperacusis (sensitive hearing)• Musculoskeletal problems• Excessively social personality• Developmental delay, learning disabilities, ADHD

Characteristic Facial Appearance

• Small, upturned nose• Long philtrum• Wide mouth• Full lips• Small chin• Puffiness around the

eyes• “Starburst” (white lacy

pattern) on iris

Heart and Blood Vessel Problems

• Narrowing in the aorta or pulmonary arteries– Can range from trivial

to severe

• Increased risk for development of blood vessel narrowing or high blood pressure over time

Hypercalcemia

• Elevated blood calcium levels

• Can cause extreme irritability

• Often leads to colic– Lasting from 4-10 months

• Hypercalcemia can be lifelong abnormality

Low birth-weight/low weight gain

• Slightly lower than average birth-weight

• Often diagnosed as “failure to thrive” due to slow weight gain in early years of life

• Adults with Williams syndrome have a slightly smaller than average stature

Feeding Problems

• Linked to:– Low muscle tone– Severe gag reflex– Poor suck/swallow– Tactile defensiveness

• Usually resolve as child ages

Dental and Kidney Abnormalities

• Dental– Slightly small, widely spaced teeth– Abnormalities of bite, tooth shape, and

appearance

• Kidney– Slightly increased frequency of problems with

kidney structure and/or function

Hyperacusis

• Sensitive hearing

• Certain noise levels and frequencies can be painful

• Improves with age

Musculoskeletal problems

• Young children– Low muscle tone– Joint laxity

• Older children– Joint stiffness

Excessively Social Personality

• Strength in expressive language skills• Extreme politeness• Unafraid of strangers• Greater interest in relationships with adults than with

peers

Developmental Delay, Learning Disabilities, ADHD

• Delayed gross motor and fine motor skills

• Delayed acquisition of speech and language

• High level of distractibility

• Wide variety of “strengths and weaknesses”

Epidemiology• Affects 1/7,500-20,000

live births• Approximately 0.01%

of U.S. population, or 36,266 people living with WS

• No known genetic predisposition – random deletion on 7q11.23 section of chromosome 7 containing 20-25 genes (AAP, 2001)

Diagnosing Williams Syndrome

• 2 Parts to Diagnosis

Medical Diagnosis- Genetic test confirmation (FISH)

Clinical diagnosis- based on variety of physical and developmental characteristics

Fluorescent in Situ Hybridization (FISH)

• Type of specialized chromosome analysis• Blood sample is taken and chromosome 7

is treated with 2 specific colored markers• Detects the absence/presence of elastin

gene– provides blood vessels with strength and

elasticity

• If patient has only 1 copy of elastin gene, then the diagnosis of WS is confirmed

FISH Test- Background

• In WS, at least 15 genes are missing from one copy of chromosome 7

• Elastin gene was the first gene discovered, and is the one used in FISH diagnostic tests today

• In over 95% of WS individuals tested, only one copy of chromosome 7 will show a fluorescent spot for the elastin gene

FISH Test Significance

• Virtually all (98%) individuals with typical features of WS will have deletion of the elastin gene

• In most cases, FISH test will give a clear answer• However, it is possible that an individual with

characteristics of WS might not show a missing elastin gene– Need assessment by an experienced medical

geneticist

Availability and Cost of FISH

• Readily available at major hospitals and Cytogenetics laboratories around the country– But, NOT a routine test– Labs needs to be called in advance to ensure

they perform the test

• Cost for FISH is about $285– Coverage by insurance varies based on

individual programs and policy rules

Clinical Diagnosis

• Review of common characteristics of WS Characteristic facial appearance- small

upturned nose, wide mouth, full lips, small chin

Heart & blood vessel problemsHypercalcemiaLow birth weight/low birth gainFeeding problemsIrritability btwn 4-10 months of ageDental abnormalities

Clinical Diagnosis

Kidney abnormalitiesHerniasHyperacusis (sensitive hearing)Musculoskeletal problemsDevelopmental delaysOverly friendly (excessively social) personalityLearning disabilitiesAttention deficit

Diagnosis- Final Thoughts

• WS can be identified by its distinctive physical characteristics; however, the diagnosis of WS is confirmed by using FISH (or genetic test)

• Remember, WS is a genetic disorder which requires a medical/genetic diagnosis

• Individuals who do not have the gene deletion do not have WS

Specialized Services

• Medical Interventions

• Physical Therapy

• Speech Therapy

• Occupational Therapy

• Hippotherapy

• Music Therapy

• Dietetics

Medical Interventions

• People with Williams Syndrome require regular cardiovascular monitoring for potential medical problems, such as narrowing of blood vessels, high blood pressure, and heart failure

• Gastro-esophageal reflux is also a common problem– Individuals should see a radiologist to have an

upper GI series and pH probe

Physical Therapy

• Physical therapy provides gross motor skills interventions that target low tone, weak muscles, and difficulty with balance • It helps to strengthen muscles and improve coordination• Passive ROM exercises can also help with

joint limitations in the lower extremities

Speech Therapy

• Children with Williams Syndrome typically have a delay in onset of speech

• Speech therapy helps strengthen facial muscles to improve articulation when speech begins

• It also helps improve

their ability to process

information

Speech Therapy &

Occupational Therapy• Both speech and occupational therapy

target feeding difficulties

• Together, they work on feeding difficulties by teaching parents optimal positioning of the child’s body, support to the mandible, techniques for inserting nipple of bottle & spoon, exercises to coordinate chewing and swallowing

Occupational Therapy• Occupational therapy

provides interventions for fine motor skills and sensitivity to texture difficulties

• It works on improving fine motor skills by manipulating small objects and completing coloring and drawing tasks

•Visual motor integration is sometimes difficult for children with Williams Syndrome and occupational therapy works to improve their visual-spatial perception•Therapists also work to improve texture sensitivity and overcome tactile defensiveness

Hippotherapy

• Therapy that uses the movement of the horse as a treatment tool by Physical Therapists, Occupational Therapists, and Speech Therapists to address functional limitations, impairments, and disabilities in patients with neuromusculoskeletal dysfunction (AHA, 2007)

–Has been shown to improve muscle tone, posture, balance, coordination and motor development–Therapeutic riding addresses self esteem and emotional well-being

Music Therapy

• Music Therapy involves teaching and reinforcing physical abilities through the use of music• It does not teach them to play music or rely on musical ability, it utilizes a child’s love for music to improve other tasks• Music therapy has been shown to decrease

internalizing symptoms like anxiety and fear, as well as externalizing symptoms such as impulsivity, inattention, and aggression (Dykens et al., 2005)

Dietetics

• The need for a consistent diet is important in children with Williams Syndrome

• Constipation is a common problem and can be managed through managing the amount of fiber in the diet

• Hypercalcemia affects 15% of children with Williams Syndrome, requiring monitoring of calcium intake and providing vitamins that do not contain calcium and vitamin D

Resources

Williams Syndrome Association – www.williams-syndrome.org

• Created by and for families of individuals with WS

• Support families, research and education

• Sponsor an online community where members can connect and share information

• Provide information for healthcare providers and teachers, including ongoing research and educational strategies

Resources

WSA Great Lakes Region - http://www.williams-syndrome.org/community/greatlakes/index.html– Michigan, Indiana, Ohio & Kentucky– Links to local resources– Events calendar

Resources

• The Nisonger Center at The Ohio State University Medical Center - http://nisonger.osu.edu/– Williams Syndrome Clinic – multidisciplinary

team approach to assessment and treatment of children with WS

• Joint effort with Nationwide Children’s Hospital

– Sponsor of WSA Regional conference and support group activities

Resources• The Arc of Ohio – http://netcommunity.thearc.org

– Advocate for the rights and opportunities of people with intellectual and developmental disabilities

– Mission is to connect families, improve services and supports, and influence public policy

• Family Information Network (FIN) of Ohio - http://www.familychild.org/fin/FIN.htm– Statewide parent network designed to keep a family

perspective at the forefront of Ohio’s Help Me Grow system

– Offers support through information and education to families of young children and the professionals who serve them.

References• American Academy of Pediatrics. (2001). Health care supervision

for children with Williams Syndrome. Pediatrics, 107(5), 1192-

204.• American Hippotherapy Association. (2007). http://

www.americanhippotherapyassociation.org• The Arc of the United States. (2005). About Us: Mission

Statement. Accessed November 5, 2007 from http://www.thearc.org/NetCommunity/Page.aspx?&pid=266&srcid=1386

• Dykens, E.M., Rosner, B.A., Ly, T., & Sagun, J. (2005). Music and Anxiety in Williams Syndrome: A Harmonious or Discordant Relationship. American Journal of Mental Retardation, 110

(5), 346-358.• Mervis, C.B. & Klein-Tasman, B.P. (2000). Williams syndrome:

Cognition, personality, and adaptive behavior. Mental Retardation and Developmental Disabilities Research Reviews, 6(2), 148-158.

References

• Family Information Network. (2003). What is the Family Information Network? Accessed November 5, 2007 from http://www.familychild.org/fin/FIN.htm

• Williams Syndrome Association. (2002). http://www.williams-syndrome.org/

• Williams Syndrome Association. (2002). What is the Williams Syndrome Association? Accessed November 5, 2007 from http://www.williams-syndrome.org/about/index.html

• Williams Syndrome Foundation. (2002). http://www.williamssyndrome.org/

Annotated Bibliography

• Dobbs, David (2007, July 8). The Gregarious Brain. The New York Times Online. Retrieved Nov. 12, 2007, from http://www.nytimes.com/2007/07/08/magazine/08sciability-t.html

This article focuses on the excessively social personality characteristic of individuals with Williams Syndrome. It provides several examples of how children with WS react and behave inappropriately in various social situations while maintaining an exceptionally friendly demeanor. More specifically, the article discusses the utter lack of social fear found in individuals with WS. Andreas Meyer-Lindenberg, a psychiatrist and neurologist, who has been exploring neural roots of mood in cognitive and behavioral disorders. The most significant neural finding is a dead connection between the orbitalfrontal cortex and the amygdala (the fear’s brain center). This article provides an excellent overview and examination of the excessively friendly characteristic of individuals with WS.

Annotated Bibliography• Dykens, E.M., Rosner, B.A., Ly, T., & Sagun, J. (2005).

Music and Anxiety in Williams Syndrome: A Harmonious or Discordant Relationship. American Journal of Mental Retardation, 110 (5), 346-358.

The purpose of this article was to determine the correlation between music and anxiety in individuals with Williams syndrome.

Two studies were done to assess both internalizing, anxiety and fear, and externalizing, impulsivity, inattention, and aggression, symptoms. The first study consisted of 89 individuals with Williams syndrome,

Prader- Willi syndrome, and Down syndrome. They found no significant correlation between musical activities and internalizing or

externalizing symptoms for the Prader-Willi or Down syndrome groups. In contrast, the Williams syndrome group, playing an instrument and singing were negatively associated with internalizing symptoms. Similarly, listening to music in this group was negatively correlated with externalizing symptoms, specifically aggression.

In the second study, 67 individuals were split into the same 3 groups. For the Williams syndrome group they found listening to music to be associated with decreased externalizing symptoms. Also, playing instruments was associated with less internalizing symptoms. Both

studies indicate that music has a positive affect on individuals with Williams syndrome.

Annotated Bibliography

• Mervis, C.B. & Klein-Tasman, B.P. (2000). Williams syndrome: Cognition, personality, and adaptive behavior. Mental Retardation and Developmental Disabilities Research Reviews, 6(2), 148-158.

This article is an excellent resource for both families and professionals looking for clear and in-depth information regarding Williams syndrome. The article outlines, in detail, the

characteristics of WS as they relate to cognition, personality and adaptive behavior. The article reviews literature regarding each of the behavioral phenotypes of WS, including both strengths and weaknesses that accompany the disorder. It is written in direct language that can be easily understood by anyone interested in becoming educated regarding Williams syndrome.

Annotated Bibliography• Zitzer-Comfort, C., Doyle, T., Masataka, N.,

Korenberg, J.,  & Bellugi, U. (2007). Nature and nurture: Williams syndrome across cultures. Developmental Science, 10(6), 755-62.

This article describes research into the influence of culture over the expression of hypersocial personality in children with WS. Participants were 24 children living in the U.S. and 24 children living

in Japan. Half of each group were typically developing and half had Williams Syndrome. The Salk Institute Sociability Questionnaire (SISQ), an assessment tool designed to measure aspects of social behavior common among people with WS, was completed by the parents of the participants. Results of the study indicate that culture does influence expression of hypersocial behaviors in children with

WS.The WS in both the U.S. and Japan rated higher than

typical on approaching strangers and social emotional behaviors. The Japanese WS group’s scores were similar to the U.S. typical group

on most items, with the Japanese typical group being the least social. Researchers cite not only a cultural influence on social norms and mores, but also perhaps a reporter bias by Japanese parents who sought to downplay “abnormal” or “undesirable” behaviors in their children with WS.