The Angelman Clinic in Sydney
The Angelman syndrome Clinic is a multidisciplinary service provided by an experienced team of health professionals in partnership with the Angelman Syndrome Association Australia. The clinic is located in the Developmental Assessment Service of The St. George Hospital at Kogarah, NSW.
The Angelman syndrome Clinic originally began in October 1993 and successfully operated for many years due to the dedication and expertise of Dr Robert Leitner (Developmental Paediatrician) and Dr Ellie Smith (Consultant Cytogeneticist), who are both Medical Consultants to the Australian Angelman Syndrome Association Australia. The clinic was rejuvenated in 2010 to once again serve the needs of Angelman syndrome children/adults and their families/carers. Drs Rani Sachdev (Clinical Geneticist) and Antonia Milner (Paediatric Fellow) have joined the clinic.
This has been established for all families in Australia. Professional and medical help, advice and assessment can be obtained by making contact. See below.
The Angelman syndrome Clinic aims to:
- Help support families, children and adults living with this condition
- Coordinate existing medical treatments in consultation with clinical specialists
- Provide access to psychological and educational assessments/services
- Provide a platform for accessing and developing integrated research
- Facilitate family counselling.
To this aim, the clinic intends to provide information/services on a range of health issues including: behaviour, development, weight, nutrition, sleep, eyes, neurology, etc.
This clinic includes a developmental paediatrician, cytogeneticist, clinical geneticist, social worker, dietician, neurologist, psychologist, psychiatrist, sleep physician, gastroenterologist and a clinic coordinator.
Clinic appointments are held throughout the year and often on Saturdays. However, many consultations/reviews may not require clinic attendance and may be adequately addressed by other means. Upon contacting the clinic, the Clinic Coordinator determines the most appropriate consultation method, which can include a consultation via:
- Potentially Skype/teleconference
- An appointment to attend the clinic
In this way, the clinic becomes more accessible to families throughout Australia and not just in NSW. Where families need to travel long distances (including interstate) to the clinic for a consultation/review, financial assistance for travel and accommodation may be available.
If a clinic appointment is appropriate, it may be necessary to complete some questionnaires to what the primary needs may be for the Angelman syndrome person and their family/ carers.
Shortly following the clinic prepares and sends out a report which outlines the medical/ health/ educational/ and support recommendations and provides strategies that may be used by the primary health care provider to help the Angelman syndrome person and their family/ carers.
The aim of the clinic is to have an initial response to any enquiries within two working days.
Historically, the clinic collected data from families of children/adults with Angelman syndrome in the form of questionnaires. The data was compiled onto a database, and analysis of this data was then used to help families and professionals with management options.
It is the intention that the clinic continues its research in this manner in order to provide further information and options for families.
To Make Contact:
Phone: (02) 8566 1222 or 1300 721 770
Angelman Syndrome Clinic Developmental Assessment Service
St. George Hospital
PO Box 90
Kogarah, NSW 2217
The Angelman syndrome Clinic in Melbourne
The Angelman syndrome clinic is a specialist clinic jointly run by Professor Ingrid Scheffer, a world expert in epilepsy, and Dr Catherine Marraffa, a developmental paediatrician. The clinic provides information on a range of health issues for children with Angelman syndrome in Victoria. The specialists have an interest in global research into Angelman syndrome, and the clinic provides an opportunity to tell families and children who might be interested in participating in research in the future.
The Angelman syndrome Clinic aims to:
- Ensure all the needs of the children are being met.
- Offer advice that might include medication regimes for the treatment of epilepsy, sleep problems, and other areas of physical difficulty.
- Review the child’s development in self-help skills, therapy for communication skills, cognitive skills and mobility.
- Provide feedback to referring paediatrician regarding child’s management.
- Provide information to families about research programs.
The clinic is run twice a year, usually in January and July, on a Monday afternoon. It is held at Specialist Clinic A1 at The Royal Children’s Hospital, Parkville. Children are only seen if already under care of a paediatrician. Information from the child’s kindergarten, school or therapists is useful if it is available.
Please take the time to complete this survey if you have used the Clinic. Your answers will be of value in order to continuously improve and develop this service. Click on this link to take the survey!
By referral from the child’s paediatrician. Please post to the following address:
Angelman syndrome Clinic
The Royal Children’s Hospital
50 Flemington Road
Telephone: (03) 9345 5898
Support in your State
The Genetic Support Network of Victoria is connected with a wide range of support groups throughout Victoria and Australia and can connect you with other individuals and families affected by Angelman syndrome.