© 2004 Rano Sangwan
William’s Syndrome
• A rare genetic condition that occurs inapproximately 1 in 20,000 births.
• Heart problems, learning difficulties, hearingand 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
Distinctive body structure:
• Long neck and sloping shoulders• Joint stiffness• Low height
Eric
Miriam
Patricia
Trey
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 Female with WS
Normal childChild with WS
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 [email protected] Web page http://home.vicnet.net.au/~wsfsg/ • Williams Syndrome Association of South Australia, Inc. 102 Amsterdam Crescent, Salisbury Downs Adelaide 5108 Australia Tel: 8258 3867 e-mail: [email protected] • 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.htmlhttp://www.williams-syndrome.org.uk/about_ws/guidelines/parents.htm#forwardhttp://home.vicnet.net.au/~wsfsg/http://www.wsf.org/family/news/lenhoff_sa.pdf
William’s Syndrome
Questions?
William’s Syndrome
Thank You!
Rano Sangwan