Williams Syndrome

1
Williams Syndrome

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

2
What is Williams Syndrome?

• A rare genetic condition that causes medical and
  developmental problems
• 1 in 7,500 births

3
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

4
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

5
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

6
Characteristic Facial Appearance

• Small, upturned nose
• Long philtrum
• Wide mouth
• Full lips
• Small chin
• Puffiness around the eyes
• Starburst (white lacy pattern) on iris

7
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

8
Hypercalcemia

• Elevated blood calcium levels
• Can cause extreme irritability
• Often leads to colic
• Lasting from 4-10 months
• Hypercalcemia can be lifelong abnormality

9
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

10
Feeding Problems

• Linked to
• Low muscle tone
• Severe gag reflex
• Poor suck/swallow
• Tactile defensiveness
• Usually resolve as child ages

11
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

12
Hyperacusis

• Sensitive hearing
• Certain noise levels and frequencies can be
  painful
• Improves with age

13
Musculoskeletal problems

• Young children
• Low muscle tone
• Joint laxity
• Older children
• Joint stiffness

14
Excessively Social Personality

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

15
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

16
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)

17
Diagnosing Williams Syndrome

• 2 Parts to Diagnosis
• Medical Diagnosis- Genetic test confirmation
  (FISH)
• Clinical diagnosis- based on variety of physical
  and developmental characteristics

18
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

19
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

20
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

21
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

22
Clinical Diagnosis

• Review of common characteristics of WS
• Characteristic facial appearance- small upturned
  nose, wide mouth, full lips, small chin
• Heart blood vessel problems
• Hypercalcemia
• Low birth weight/low birth gain
• Feeding problems
• Irritability btwn 4-10 months of age
• Dental abnormalities

23
Clinical Diagnosis

• Kidney abnormalities
• Hernias
• Hyperacusis (sensitive hearing)
• Musculoskeletal problems
• Developmental delays
• Overly friendly (excessively social) personality
• Learning disabilities
• Attention deficit

24
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

25
Specialized Services

• Medical Interventions
• Physical Therapy
• Speech Therapy
• Occupational Therapy
• Hippotherapy
• Music Therapy
• Dietetics

26
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

27
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

28
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

29
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
  childs body, support to the mandible, techniques
  for inserting nipple of bottle spoon, exercises
  to coordinate chewing and swallowing

30
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

31
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

32
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 childs 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)

33
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

34
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

35
Resources

• WSA Great Lakes Region - http//www.williams-syndr
  ome.org/community/greatlakes/index.html
• Michigan, Indiana, Ohio Kentucky
• Links to local resources
• Events calendar

36
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 Childrens Hospital
• Sponsor of WSA Regional conference and support
  group activities

37
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 Ohios
  Help Me Grow system
• Offers support through information and education
  to families of young children and the
  professionals who serve them.

38
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
  266sr cid1386
• 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.

39
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- syndro
  me.org/about/index.html
• Williams Syndrome Foundation. (2002).
  http//www.williamssyndrome.org/

40
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/08sci ability-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 fears brain center). This
  article provides an excellent overview and
  examination of the excessively friendly
  characteristic of individuals with WS.

41
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.

42
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.

43
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 groups
  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.