lilly henry 11100371 williams syndrom

7/29/2019 Lilly Henry 11100371 Williams Syndrom

1/13

Click to edit Mastersubtitle style

2/28/13

Williams

SyndromeHenry Lilly


2/13

2/28/13

History

First discovered by Dr. J.C.P. Williams andhis colleagues, who wrote in 1961 of fourpatients with a mental disability, lowsetdrooping cheeks, and widely spaced eyesand mouth.

A year after this report, German physicianDr. A. J. Beuren also described three newpatients with the same presentation.

This led to the disorders full name,Williams-Beuren, which is still used in somemedical publications.


3/13

2/28/13

Symptoms

mental disability,heart defects,unusual facial

features, failure togain weightappropriately ininfancy

low muscle tone,widely spacedteeth, a longphiltrum, and aflattened nasal

bridge.

Physical Nervous

SystemAbnormalities in thecerebellum, rightparietal cortex, and

left front corticalregions.

Trouble walkingdown stairs,

overactive motorreflexes, andinvoluntarymovement of theeyes


4/13

2/28/13

oc a anPsychological

Symptoms Tend to use much

speech that is rich inemotional descriptors,and also have poorconcentration andhyperactivity.

People affected by thisdisorder are rarelyaggressive, have highempathy, and oftenconnect deeply with

strangers uponinteraction with them.


5/13

2/28/13

Cause of the disease

Williams syndrome is caused by the deletionof genetic material from the region q11.23of chromosome 7.

The deleted region includes more than 25genes

CLIP2, ELN, GTF2I, GTF2IRD1, and LIMK1 are

among the genes that are typically deletedin people with Williams syndrome.

Studies suggest that deletion ofLIMK1,GTF2I, GTF2IRD1, and perhaps other genes

may help explain the characteristicdifficulties with visuals atial tasks


6/13

2/28/13


7/13

2/28/13

Treatments

Unfortunately, there is no true cure ortreatment to this disorder.

Scientists suggest avoidance of extracalcium and vitamin D, as well as treatinghigh levels of blood calcium.

Blood vessel narrowing can be a significant

health problem, and is treated on anindividual basis.

Physical therapy is helpful to patients withjoint stiffness and low muscle tone.

Developmental and speech therapy can also


8/13

2/28/13

Diagnosis

Begins with recognition of physicalsymptoms and markers

Some diagnostic studies suggest thatreliance on facial features to identifyWilliams syndrome may cause amisdiagnosis of the condition aconfirmatory genetic test follows

The physical signs that often indicateWilliams syndrome include puffiness aroundthe eyes, a long philtrum, and a stellatepattern in the iris.

Ph siolo ical s m toms that often


9/13

2/28/13

Can this disorder beinherited?

If one parent has Williams syndrome, thereis a 50% chance that his/her child will haveWilliams syndrome.

If both parents have Williams syndrome,there is a 75% chance that the child willinherit the condition.


10/13

2/28/13

Who can help thefamilies?

There are many programs to help thefamilies find programs for their children tofit in to.

The Williams Syndrome Associationprovides members with support throughyearly regional conferences and socialgatherings, quarterly newsletters andbiennial conventions.

The Williams Syndrome Association alsoactively supports research into educational,behavioral, social and medical aspects of

the syndrome.


11/13

2/28/13

BioethicalConsiderations

Some diagnostic studies suggest thatreliance on facial features to identifyWilliams syndrome may cause amisdiagnosis of the condition.

Researchers indicate that even withsignificant clinical experience, it is difficultto reliably identify William syndrome basedon facial features alone.

There is no way to prevent this condition,but research is being made to try andsomehow restore abnormalities in the

nervous system.


12/13

2/28/13

Bibliography

Banks, Sarah. "Williams Syndrome." -Genetics Home Reference. U.S. NationalLibrary of Medicine, 25 March. 2012. Web.26 Feb. 2013..

Turner, Adam. "WILLIAMS SYNDROME."

Williams Syndrome. University of Utah, 8Jan. 2013. Web. 27 Feb. 2013..


13/13

2/28/13

The End

lilly henry 11100371 williams syndrom

Documents