2004 Rano Sangwan Williams Syndrome A rare genetic

© 2004 Rano Sangwan

William’s Syndrome • A rare genetic condition that occurs in approximately 1 in 20, 000 births. • Heart problems, learning difficulties, hearing and vision defects and low IQ’s. • A genetic mystery that creates unique personality traits.

William’s Syndrome What is the cause of William’s syndrome (WS)? • Micro deletion of chromosome 7 • Missing genetic material is Elastin • Elastin – a protein important for elasticity of the skin, blood vessels and joints

William’s Syndrome What are the symptoms of WS? Parents with a newly born WS child observe: • Feeding problems • Vomiting and constipation • Irritability WS children are delayed in their development

William’s Syndrome Other Symptoms: • Small upturned nose • • • Full prominent cheeks A wide mouth A long philtrum Puffiness around the eyes Small irregular teeth Patricia Trey Distinctive body structure: • Long neck and sloping shoulders • Joint stiffness • Low height Miriam Eric

William’s Syndrome What are the treatment options? • Health and educational professionals should be involved in the care of a WS child. • Regular checkups for potential medical problems • The expertise of developmental psychologists, physical and occupational therapists • Language and speech therapists

William’s Syndrome What are the chances of having another WS child? • The chances are minimal WS has an autosomal dominant inheritance pattern, which means there is a 50% chance that a person with WS passes the disorder on to each of his or her children. Normal male Child with WS Female with WS Normal child

William’s Syndrome Financial and emotional consequences • The medical costs should be covered under existing medical insurance or Medicare • Social service departments organise respite care for WS children for a few days or weeks • A Local Education Authority helps parents to find special educational support • A transition plan - help with the transition to adult life and continuing education

William’s Syndrome What is the prognosis for individuals with WS? The majority of individuals with WS are healthy and lead active, full lives.

William’s Syndrome

William’s Syndrome What WS support groups are available in Australia? • Williams Syndrome Support Group of Victoria Secretary Janine Wan 43 Naroo Street Balwyn Vic 3103 Tel: (03) 9859 4450 email jwan@enternet. com. au Web page http: //home. vicnet. au/~wsfsg/ • Williams Syndrome Association of South Australia, Inc. 102 Amsterdam Crescent, Salisbury Downs Adelaide 5108 Australia Tel: 8258 3867 e-mail: amarob@chariot. net. au • Williams Syndrome (IHC) Association of New South Wales 32 Selwyn Street, Paddington New South Wales 2021 Australia Tel: 02 9332 1361

William’s Syndrome References Hagerman, R. J. (1999). Neurodevelopmental disorders: diagnosis and treatment. New York: Oxford University Press. Howlin, P. , & Udwin, O. (2002). Outcomes in neurodevelopmental and genetic disorders. Cambridge: Cambridge University Press. Mahajan, B. S. , & Rajadhyaksha, M. S. (1999). New biology and genetic diseases. New Delhi: Oxford University Press. http: //www. williams-syndrome. org/forparents/faq. html http: //www. williams-syndrome. org. uk/about_ws/guidelines/parents. htm#forward http: //home. vicnet. au/~wsfsg/ http: //www. wsf. org/family/news/lenhoff_sa. pdf

William’s Syndrome Questions?

William’s Syndrome Thank You! Rano Sangwan