Neurogenetics at The Children's Hospital at Westmead

Neurogenetics at The Children's Hospital at Westmead provides comprehensive clinical care for children affected by muscle and nerve conditions including muscular dystrophy, spinal muscular atrophy, the peripheral neuropathies and complex neurofibromatosis type 1 and 2 (NF1 and NF2). 

The Neuromuscular Clinic cares for children and adolescents with a range of muscle and nerve disorders (including neuropathies, congenital myopathies, myotonic dystrophy, Duchenne muscular dystrophy, spinal muscular atrophy, Becker muscular dystrophy, limb-girdle muscular dystrophy and Ulrich congenital myopathy). 

The Neurofibromatosis Clinic cares for patients with complex neurofibromatosis (NF). 

Neurogenetics/Neuromuscular Clinic

The clinic specialises in the diagnosis, assessment and genetic counselling of children with neurogenetic disorders including tuberous sclerosis, neuromuscular disorders and hereditary ataxias.

• When: Every Wednesday at 2pm
• Where: Children's Assessment Centre, Level 3

Referrals

Initial referrals must be from a registered medical practitioner (specialist or consultant).

Subsequent referrals must be from a registered medical practitioner (GP, specialist or consultant) and can be directed to any Clinical Geneticist/ Paediatric Neurologist listed below.

Requests to see a specific geneticist or neurologist can be considered, but are not always possible. All appointment requests are triaged by clinical staff and appointments may be allocated to another Clinic (Genetics or Neurology) if more appropriate.

A Genetic Counsellor will usually contact new referrals prior to the clinic visit to obtain a preliminary family tree and check if relevant previous medical information is available.

• Please email Daralyn Hodgson, Manager Neurogenetics Clinical Services on SCHN-CHW-Neurogenetics@health.nsw.gov.au or fax (02) 9845 3905 the referral addressed to the attending specialist.
• For urgent referrals, please go through the Hospital Switchboard on 02 9845 0000

Clinicians

• Dr R Webster (Neurologist & Head of Department)
• Dr K Jones (Geneticist)
• Dr S Sandaradura (Geneticist)
• Dr Sarah Josephi-Taylor (Geneticist) 
• Dr H Young (Neurologist)
• Dr S Ardern-Holmes (Neurologist)
• Dr M Menezes (Neurologist)
• Dr Esther Tantsis (Neurologist)
• Dr Michelle Lorentzos (Neurologist)

Appointments

We prefer to arrange appointments by email where possible. Please use SCHN-CHW-Neurogenetics@health.nsw.gov.au 

Alternatively, you can call us on 9845 1325

Neurofibromatosis Clinic

We accept new referrals for children under the age of 16 years who:

Reside in NSW and have complex NF1 requiring specialist input or services at CHW that are not available locally. Complex is defined as:

• A growing/painful plexiform neurofibroma
• Optic pathway glioma
• CNS/spinal cord tumour
• Epilepsy
• Pseudoarthrosis
• Receiving investigational drugs
• Heavy disease load
• A diagnosis of NF2

We provide a diagnostic service to the children who reside in our local catchment area (Western Sydney Local Health District)

We do not provide routine follow up for  children with currently uncomplicated NF1

If a patient does not meet the referral criteria:

• Annual review with local paediatrician/GP is recommended (see the NF1 Review Checklist)
• For advice regarding patients with NF1 that do not meet the referral criteria for CHW complex care, please email SCHN-CHW-Neurogenetics@health.nsw.com.au.
• GP HealthPathways are available for a patient’s local GP to guide ongoing management of NF1
• Transition of care guidelines are available to guide the process of transitioning from paediatric to adult care
• CHW NF1 Learning Clinic provides diagnostic and neuropsychological assessment services for specified children and adolescents with Neurofibromatosis Type 1 (NF1). 

Neurofibromatosis 1 Learning Clinic

The NF1 Learning Clinic is comprised of a team of psychologists and a clinical neuropsychologist who provides diagnostic and neuropsychological assessment services for children and adolescents with Neurofibromatosis Type 1 (NF1) including:

• Toddlers and preschool-age children aged 3-5 years of age with suspected developmental delay, intellectual disability or behavioural and cognitive concerns.
• School-aged children with suspected learning difficulties, behavioural or cognitive concerns.

What will the assessment involve?

• An assessment session takes approximately 2-4 hours depending on the age of your child.
• Assessments are conducted at The Children’s Assessment Centre, Level 3 The Children’s Hospital at Westmead.
• We'll provide a report of the assessment results and you'll be able to discuss the suggested interventions with us.

Referrals

All referrals are reviewed and triaged. We accept referrals from the following:-

• The Children’s Hospital at Westmead Neurogenetics Clinic (internal referral)
• Managing paediatrician, geneticist, neurologist or other relevant medical specialists (external referral)
• Self-referrals if you have been seen by our NF1 Learning Clinic or Neurogenetics Clinic previously.

Please ensure any external referrals include a clear statement of the goals of the assessment and details of your child’s NF1 diagnosis. Referrals can be sent to:

NF1 Learning Clinic, C/o Clinical Research Rooms Level 1
The Children’s Hospital at Westmead, Locked Bag 4001, Westmead 2145

Referral enquiries including self-referrals can be discussed with one of our team members. Please call 9845 3057.

Unfortunately, we currently have a lengthy waiting list. Appointments are made once the appropriateness and priority are assessed.

NF support and resources

The following resources are published by the Children's Tumour Foundation.

• What is Neurofibramatosis? 
• Download the Newly diagnosed with NF1 brochure
• Download the Newly diagnosed with NF2 brochure
• Download Neurofibromatosis Type 1 Review Guideline