|
Diagnosis Medical Diagnosis- Genetic test confirmation (FISH) Clinical diagnosis- based on variety of physical and developmental characteristics
Part I: Medical Diagnosis Fluorescent in Situ Hybridization (FISH)
•FISH is a 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 which 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
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 The results need to be assessed by an experienced medical geneticist. Availability and Cost of FISH •FISH is readily available at major hospitals and Cytogenetics laboratories around the country, but it is not considered a routine test. Labs need to be called in advance in order to ensure that they perform the test.
•Cost for FISH is about $285
and insurance coverage varies based on dividual programs and policy rules.
Part II: Clinical Diagnosis Common Features of Williams Syndrome
Characteristic Facial Appearance
Heart and Blood Vessel Problems
Cardiovascular abnormalities may require medical intervention such as stent placement or other surgical procedures. Hypercalcemia •Hypercalcemia is a condition in which a person has elevated blood calcium levels. It can cause extreme irritability and often leads to colic in infants which can last from 4-10 months. •Hypercalcemia can be a lifelong abnormality, but it typically resolves with age in children with WS. Low birth-weight/low weight gain •Children born with Williams syndrome have a slightly lower than average birth-weight
and can often be diagnosed as "failure to thrive" due to their slow weight gain in the early years of life.
•Adults with Williams syndrome have a slightly smaller than average stature Feeding Problems •Children with Williams syndrome often have feeding problems that are related to:
•These feeding problems usually resolve as child ages. Dental and Kidney Abnormalities
•Kidney
Hyperacusis •Hyperacusis is abnormal acuteness of hearing due to increased irritability of the sensory neural mechanism. •Certain noise levels and frequencies can be painful •Hyperacusis often improves with age. Musculoskeletal problems • In young children with Williams syndrome, musculoskeletal problems are manifested in low muscle tone and joint laxity. •Older children tend to have more difficulty with joint stiffness. Excessively Social Personality
Developmental Delay, Learning Disabilities, ADHD •Children with WS often have delayed gross motor and fine motor skills, as well as delayed acquisition of speech and language. They display a high level of distractibility and are often diagnosed with Attention Deficit Hyperactivity Disorder. •Persons with WS exhibit a wide variety of “strengths and weaknesses”, such as relative strengths in language and auditory rote memory and weaknesses in visuo-spatial and math skills. These individual differences need to be examined in-depth in order to provide appropriate interventions.
|
|---|
