Difference between revisions of "2011 Group Project 9"

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====Anxiety Disorders====
 
====Anxiety Disorders====
  
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It has been found that when compared to the general population, children with Williams syndrome have a significantly higher rate of anxiety related disorders. They particularly showed a higher occurrence of generalised anxiety disorder and specific phobia disorder. <ref name="PMID20161441"><pubmed>20161441 </pubmed></ref>
  
 
==Cognitive, Behavioural and Neurological Problems==
 
==Cognitive, Behavioural and Neurological Problems==

Revision as of 23:53, 30 August 2011

Note - This page is an undergraduate science embryology student group project 2011.
2011 Projects: Turner Syndrome | DiGeorge Syndrome | Klinefelter's Syndrome | Huntington's Disease | Fragile X Syndrome | Tetralogy of Fallot | Angelman Syndrome | Friedreich's Ataxia | Williams-Beuren Syndrome | Duchenne Muscular Dystrolphy | Cleft Palate and Lip




Your Project Goes Here.


2011 Projects: Turner Syndrome | DiGeorge Syndrome | Klinefelter's Syndrome | Huntington's Disease | Fragile X Syndrome | Tetralogy of Fallot | Angelman Syndrome | Friedreich's Ataxia | Williams-Beuren Syndrome | Duchenne Muscular Dystrolphy | Cleft Palate and Lip

Williams-Beuren Syndrome

Introduction

Williams-Beuren Syndrome, more commonly known as William’s Syndrome, is a congenital anomaly caused by the deletion of 28 neighbouring genes on chromosome 7q11.23.[1] [2]

This multisystemic developmental genetic disorder implicates both pre-natal and post-natal physical, psychological, behavioural and medical defects, including diverse phenotypic characteristics such as:

  • distinctive facial deformities
  • a short stature
  • intellectual disabilities/mental retardation
  • cardiovascular abnormalities
  • infantile hypercalcemia
  • a unique personality and cognitive profile. [1] [3]

History of the disease

Timeline

Etiology

Diagnosis

Genetic Factors

Williams Syndrome, a genomic disorder, occurs due to a hemizygous deletion/nonallelic homologous recombination(NAHR) spanning 1.55 or 1.84Mb on chromosome 7q11.23 which encompasses 28 genes.[1] [3]

Physical Characteristics

Cranial Abnormalities

Facial Abnormalities

Short Stature

Associated medical conditions

Cardiac Abnormalities

Supravalvular aortic stenosis

Valvular aortic stenosis

Bicuspid aortic valve

Mitral valve prolapse

Mitral regurgitation

Coronary artery stenosis

Pulmonary valve stenosis

Atrial septal defect

Ventricular septal defect

Other Abnormalities

There are a number of other abnormalities associated with Williams Syndrome including a hoarse voice, inguinal hernias and joint abnormalities. These abnormalities vary in severity between different individuals and elastin haploinsufficiency is responsible for a number of these abnormalities characteristic of Williams Syndrome.[4]

Hoarse Voice

The hoarse voice is present in 98% of people with Williams Syndrome and it is due to a connective tissue abnormality, where the lamina propria in the vocal folds has a decreased amount of elastic fibres.

Inguinal Hernia

Joint Abnormalities

Auditory Abnormalities

[5]

Anxiety Disorders

It has been found that when compared to the general population, children with Williams syndrome have a significantly higher rate of anxiety related disorders. They particularly showed a higher occurrence of generalised anxiety disorder and specific phobia disorder. [6]

Cognitive, Behavioural and Neurological Problems

Speech impairment

Social use of language

Sociability

Musical ability

Epidemiology

Management/treatment

Specialized Facilities/ supportive associations

Case studies

Interesting facts

Current research and developments

Glossary

Congenital anomaly:

Hemizygous:

Nonallelic homozygous recombination(NAHR):

Phenotype:

Hypercalcemia:

References

  1. 1.0 1.1 1.2 <pubmed>2042578 </pubmed>
  2. http://omim.org/entry/194050
  3. 3.0 3.1 <pubmed>19568270 </pubmed>
  4. <pubmed>20425789 </pubmed>
  5. <pubmed>20425785 </pubmed>
  6. <pubmed>20161441 </pubmed>