Clinicians Resource Pack - Rett Syndrome

general information on rett syndrome

• What is Rett Syndrome?
• Society for the Study of Behavioural Phenotypes (SSBP) Information  Sheet - Rett disorder
• About the Australian Rett Syndrome Study
• Genetics Information Sheet

background information to support presentations

• Professor John Christodoulou - Diagnosis and Genetics of Rett syndrome
• The Genetics of Rett Syndrome - A summary by John Christoloulou
• Weaving LS, Ellaway CJ, Gecz J, Christodoulou J. Rett syndrome: clinical review and genetic update.Journal of Medical Genetics 2005; 42:1-7
•  Dr Helen Leonard - Epidemiology, clinical variability and genotype/phenotype relationships
• Mrs Alison Anderson - InterRett
• Ms Marisa Knott - Diagnosing Rett syndrome: A mother's experience
• Ms Julie Burnicle - A personal perspective from a mother of an older child
• Ms Crystal Laurvick - Measuring the well-being of families with a child with Rett syndrome
• Physical and mental health in mothers caring for a child with Rett syndrome - a summary by CL Laurvick
• Mr Michael Johnson - Diagnosis and management of scoliosis in Rett syndrome
• Scoliosis and Rett syndrome - a summary by Mr Michael A Johnson
• Dr Helen Woodhead - Fractures and Osteopenia
• Ms Jacolyn Harris - Role of Physiotherapy in Rett syndrome
• Ms Maryke Lawton - Role of Occupational Therapy in Rett Syndrome
• Role of Occupational Therapy in Rett Syndrome - a summary by Maryke Lawton and Brenda Gutierrez
• Dr Gordon Baikie - Dealing with mealtime and feeding
• Dealing with mealtimes and feeding in girls with Rett syndrome - a summary by Dr Gordon Baikie
•  Dr Monique Ryan - Principles and management of epilepsy in Rett
• Epilepsy in Rett syndrome - a summary by Dr Monique Ryan

useful references

Moore H, Leonard H, Fyfe S, De Klerk N, Leonard N. InterRett - The application of bioinformatics to International Rett syndrome research. Annuals of Human Biology 2005; 32(2): 228-236.

Leonard H, Moore H, Carey M, Fyfe S, Hall S, Robertson L, Wu XR, Bao X, Pan H, Christodoulou J. Genotype and early development in Rett syndrome: The value of International data 2005; Brain and Development 27: S59-S68.

Moore H, Leonard H, de Klerk N, Robertson I, Fyfe S, Christodoulou J et al. Health service utilisation in Rett syndrome.Journal of Child Neurology 2003; 20(1): 42-50, 2005

Colvin L, Fyfe S, Leonard H, Schiavello T, Ellaway CJ, de klerk N et al. Describing the phenotype in Rett syndrome using a population database. Archives of Disease in Childhood 2003; 88: 38-43.

Leonard H, Fyfe S, Dye D, Leonard S. Using genetic epidemiology to study Rett syndrome: the design of a case-control study. Paediatric and Perinatal Epidemiology 2000; 14: 85-95.