About Fragile X Alliance Inc.

Fragile X Syndrome (FXS) is a genetic disorder caused by a mutation (a change in the DNA structure) in the X chromosome. It results in a wide range of developmental, physical and behavioural problems and is the most common known cause of inherited developmental disability worldwide.

Early detection allows the implementation of effective treatment and intervention strategies thus optimising outcome. As this is an inherited condition, diagnosis also allows families to make informed choices regarding both treatment and family planning.

The Fragile X Alliance Clinic was established in April 1998 to meet the specific needs of families. It is currently the only FXS-specific evaluation and treatment centre in Australia, and is unique in that families and carers bring both children as well as adults to be seen. For children, the emphasis is on identifying the educational, behavioural and support options that will enhance family life and optimise the child’s abilities. Adults and premutation carriers together with their families are also seen for broader issues including medical and allied health management, counselling, lifestyle issues, provision of information, monitoring of progress and follow-up. We have now seen over 60 individuals and their families and believe that we are able to supply a level of expertise previously not available in Australia.

The clinic is staffed by a multi-disciplinary, specialised team who provide the following services:

  • Medical evaluation and treatment
  • Psychological evaluation and treatment
  • Speech and language evaluation and therapy
  • Occupational evaluation and therapy
  • Educational strategies
  • Optometry
  • Audiometry
  • Genetic counselling and support
  • Links to parent support groups throughout Australia

A medical consultation includes taking a full and comprehensive history and conducting a medical examination, usually over 1 - 2 hours. This first step is necessary to exclude often-missed diagnoses (for example epilepsy, flat feet etc) and many families opt for this only depending on their needs. In order to make things easier on families, we take special care to co-ordinate appointment times with the various clinicians and suggest accommodation for interstate visitors. A typical multidisciplinary assessment involves a medical consultation as described and the following. Families and carers fill out a number of detailed questionnaires sent by mail designed to both help clinicians measure a number of parameters such as behaviour, and also as an aid in clinical research. Visits to the audiologist and optometrist follow to exclude hearing and vision problems, each requiring approximately one hour. This is followed by psychological, speech and occupational therapy assessments, each taking approximately one hour, but conducted in one afternoon. The team meets prior to the assessment, and again after they have drafted their assessment reports. A comprehensive multi-disciplinary report is then composed and the findings discussed in person with the family and carers as appropriate. Please note that Dr Cohen sees patients for private consultation at the Medicare rebate level. The cost of the multidisciplinary assessment and report is AUD$660 outside of Medicare, however, funding for a limited number of sessions can be applied for by current members of the Fragile X Association of Australia. Contact our clinic co-ordinator Bev Sher for further information.

Any one or combination of the above services can be selected according to each person’s needs. Individualised treatment plans and follow up services are offered including regular reviews, home and school visits. It is a privately funded clinic that relies on the generous support of individuals and organisations, although some services are partly rebatable through Medicare and private insurance. Staff regularly conduct education programs for families, professionals and support groups throughout Australia as well as internationally. Educational supplies, resources and materials specific to FXS are available by direct or mail order. All staff are actively involved with research which will serve to improve the quality of care available to people with FXS.

Clinic Staff

Medical Director
Dr Jonathan Cohen MBBS, FRACGP, MFM holds a Postgraduate Masters Degree in Family Medicine and is a Senior Lecturer with the Centre for Developmental Disability Health Victoria at Monash University Department of General Practice. He is the Liaison for the International Fragile X Alliance (Australia). He is involved with numerous research projects, the author of multiple articles for medical, allied health journals and the lay press and presents regularly throughout Australia and internationally on FXS.

Clinic Coordinator
Beverly Sher BA (SP&H), ATCL, LTCL co-ordinates the Fragile X Alliance Clinic and assists with administration and funding for clients. She is a Speech Pathologist as a well as a qualified Drama teacher. She uses drama extensively in her therapy across all ages and has found it to be an especially useful tool within the fields of pragmatic disorders and social skill training.

Astra King BA (Disability Studies) Hons, MAPS, brings tremendous neurodevelopmental experience from her work with disability and attention deficit disorders.

Occupational Therapists
Cathy Love B.Occ.Thy., Acc.OT has worked and studied in a variety of settings in Australia, the United Kingdom and in the USA. She has trained in and utilises a variety of treatment techniques including Sensory Integration. She is in private practice and offers both school and clinic based services to children, aged 0 -18 years, with a wide range of disabilities.

Debbie Isaac B.App.Sci (OT), AccOT has over 20 years experience with intellectually disabled children and adults in hospital, community settings and private practice, special developmental schools and early intervention programs. She is client and family centred in her approach and works on a wide range of areas including daily living skills, motor skills, hobbies and vocational options.

Speech Pathologist
Felicia Schmaman M Ed, BA, BA (Sp&H) Rand has over twenty years of experience in children with developmental disorders and is one of the few practitioners in Australia offering auditory integration training.

Peter Altidis B App Sc (Speech Pathology), Dip Aud, offers a broad range of audiological assessments including educational evaluations. As both a speech therapist and audiologist, he brings his expertise in both these areas to the assessment process.

Rashelle Cohen B Sc (Optom), B Mus is a behavioural optometrist with great expertise in both assessment and vision therapy. Having been a clinical tutor at the Victorian College of Optometry and clinician at the Low Vision Institute, she is now very active in the area of paediatric optometry and vision therapy, working with children with learning disabilities, with a particular interest in FXS.

Genetic Counsellor
Lisette Curnow B Sc (Hons), Ph D, LLB (Hons) HGSA certified, works at Genetic Health Services Victoria, Royal Children’s Hospital and has great experience in this area.


For an appointment or further information please contact
Bev Sher at the Fragile X Alliance Clinic on (03) 9528 1910.