Our presentation is about Williams Syndrome.

For a better understanding we decided to structure our information by answering to some common questions regarding this subject, like : what is WS? , What causes Williams Syndrome?, What are the symptoms?, Which are the Problems associated with this disorder , How is Williams Syndrome diagnosed?, and finally How is Williams syndrome treated? Slide 2

WS is a rare genetic disorder that causes medical and developmental problems.It is present at birth and affects males and females equally. Slide 3 People who have Williams syndrome are missing genetic material from chromosome 7, including the gene elastin. This gene's protein product gives blood vessels the stretchiness and strength required to withstand a lifetime of use. The elastin protein is made only during embryonic development and childhood, when blood vessels are formed. Because they lack the elastin protein, people with Williams Syndrome have disorders of the circulatory system and heart defects. Slide 4-6 The most common symptoms of Williams syndrome are Unusual appearance of the face(small upturned nose, wide mouth, full lips, small chin, widely spaced teeth), mental retardation and developmental delay. Other symptoms include: low birth weight, failure to gain weight appropriately, kidney abnormalities, and low muscle tone. People with this syndrome also exhibit characteristic behaviors, such as hypersensitivity to loud noises and an overly outgoing personality. Strong affinity for music, language

Slide 7 The problems associated with Ws ARE: Heart & Blood Vessel Defects Supravalvular aortic stenosis High blood pressure Hypertension Hypercalcemia Vascular & Connective Tissue Deficiency Kidney Defects Hernias Slide 8

Doctors can identify the syndrome by its distinctive physical characteristics. They can confirm the diagnosis by using a special technique called FISH (fluorescent in situ hybridization). The chromosomal deletion that causes Williams Syndrome is so small that it cannot be seen in a karyotype. The deletion can be observed, however, with FISH. This technique allows DNA sequences to be labeled with a fluorescent chemical (called a probe) that lights up when exposed to ultraviolet (UV) light. The Williams Syndrome deletion can be detected by labeling the elastin gene with a fluorescent probe. The gene will light up under a UV light only if it is present; a lack of signal indicates a deletion Slide 9 Williams syndrome cannot be cured, but the ensuing symptoms, developmental delays, learning problems, and behaviors can be treated Specialists who can be helpful in treating Williams syndrome include the following: cardiologist, to diagnose and prescribe treatment for heart or circulatory problems endocrinologist, to prescribe treatment if elevated calcium levels are detected in infancy pediatric radiologist, to conduct diagnostic renal and bladder ultrasound tests to diagnose and prescribe treatment for any abnormalities present occupational therapist, to assess development delays and prescribe a plan for therapy to acquire skills necessary for daily living Here you can see some photos with persons who suffer from this disorder.

SLIDE 13 Although Williams syndrome is a relatively rare condition, it is proving to be an interesting model for dissecting the underlying genetic basis for behavioural and cognitive phenotypes. Hopefully, continuing molecular genetic, neurobehavioural, and neurobiological studies in the next few years will prove fruitful in increasing our understanding of such mechanisms, which have implications far wider than the syndrome itself.

Thank you for your attention.