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Williams Syndrome

Page history last edited by Steve Pike 15 years, 11 months ago

 

 

 

 By Steve Pike and Will Fischer

 

child with Williams Syndrome

 

 

Ye Olde Overview: Williams Syndrome is a developmental disorder that is characterized by mild to moderate mental retardation or learning disabilities, unique personality characteristics, distinctive facial features, and heart and blood vessel (cardiovascular) problems. (http://medlineplus.gov/)

 

 Williams Syndrome is caused by a deletion of the Genetic Material on a specific region of Chromosome 7. The deleted region includes more than 25 genes, and researchers believe that a loss of several of these genes probably contributes to the characteristic features of this disorder.  The deleted genes inclusde CLIP2, ELN, GTF2I, GTF2IRD1, and LIMK1.

 

CLIP2, GTF2I,  LIMK1:  This Genetic Material, when deleted, affects visual-spatial tasks, unique behavioral characteristics, and other cognitive difficulties.

GTF2IRD1: Loss of this gene contributes to the distictive facial features of the disease.  Also affects visual-spatial tasks.

ELN: Deletion of this gene causes tissue abnormalities and cardiovascular disease (specifically supravalvular aortic stenosis, which is a narrowing of the aorta in the region above the aortic valve).

 

 Symtoms of the disease

 

  • Delayed speech that may later turn into strong speaking ability and strong learning by hearing
  • Developmental delay
  • Easily distracted, attention deficit disorder (ADD)
  • Feeding problems including colic, reflux, and vomiting
  • Inward bend of the small finger

     

  • Learning disorders
  • Mild-to-moderate mental retardation
  • Narrowing of the large artery that leaves the heart (aorta)
  • Personality traits including being very friendly, trusting strangers, fearing loud sounds or physical contact, and being interested in music
  • Short compared to the rest of the person's family
  • Slack joints that may change to stiffness as patient gets older
  • Sunken chest

     

  • Unusual appearance of the face
    • Flattened nasal bridge with small upturned nos
    • Long ridges in the skin that run from the nose to the upper lip
    • Prominent lips with an open mouth
    • Skin that covers the inner corner of the eye
    • Partially missing teeth, defective tooth enamel, or small, widely-spaced teeth

 

How Williams Syndrome is Inherited

 

The cases in which Williams Syndrome occur mostly happen because of random events during the formation of reproductive cells (eggs or sperm) in a parent of an affected individual. These cases can occur in people with no history of the disorder in their family. The chance of this is relativley small, however, where 1 in 7,500 to 20,000 children have the disease.

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.

 

Treatment for Williams syndrome

 

 Treatment includes early intervention programs, special education programs, and vocational training to address developmental disabilities, including speech/language, physical, occupational, and sensory integration therapies. Psychologic evaluation, polysomnography, and psychiatric evaluation should guide therapy for the individual. Behavioral counseling and psychotropic medication are often used to manage behavior problems, especially attention deficit disorder and anxiety. Surgery may be required for supravalvular aortic stenosis, mitral valve insufficiency, or renal artery stenosis. Treatment of hypercalcemia may include diet modification, oral corticosteroids, and/or intravenous pamidronate. Referral to a nephrologist is appropriate for management of nephrocalcinosis and persistent hypercalcemia and/or hypercalcuria. Infants often benefit from feeding therapy. Yearly checkups you should follow include: medical evaluation, vision screening, measurement of blood pressure, calculation of calcium/creatine ratio in a random spot urine, and urinalysis. Additional periodic evaluations during childhood include: serum concentration of calcium, thyroid function, hearing, and renal and bladder ultrasound examination. Periodic evaluations during adulthood include: glucose tolerance; cardiac evaluation for mitral valve prolapse, aortic insufficiency, and arterial stenosis; and ophthalmologic evaluation for cataracts. Children with WS should not be given multivitamins because all pediatric multivitamin preparations contain vitamin D.

 

Research currently being done on Williams Syndrome

The National Institutes of Health (NIH), and the National Institute of Neurological Disorders and Stroke (NINDS), have funded many of the research studies exploring the genetic and neurobiological origins of WS.  In the early 1990s, researchers located and identified the genetic mutation responsible for the disorder: the deletion of a small section of chromosome 7 that contains approximately 25 genes.  NINDS continues to support WS researchers including, for example, groups that are attempting to link specific genes with the corresponding facial, cognitive, personality, and neurological characteristics of WS.

 

Support Groups

 

Williams Syndrome Foundation -- www.wsf.org

Williams Syndrome Association -- www.williams-syndrome.org

 

 

 

Williams Syndrome Sources- pike

 We have neither given nor received any unauthorized aid on this project.

Steve Pike and Will Fischer

 

 

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