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Neurofibromatosis type 1 (NF1)

Professor North established the Neurofibromatosis Clinic at CHW in 1991. It is the only specialised clinic of its kind in Australia and is one of the largest multidisciplinary clinics in the world - caring for over 1200 families with NF1. Over the past 13 years, the Neurogenetics Research Unit has conducted research into many of the complications of NF1. Areas of current research include:

  • Learning disabilities and cognitive deficits- early identification and therapy.
  • Optic gliomas - early detection and new techniques for assessment.
  • The natural history of plexiform neurofibromas.
  • The natural history and therapy of brainstem gliomas.
  • Speech and articulation difficulties - the structural and genetic basis.

The international standing of Prof North's group is evidenced by the following achievements:

  • Invitation to chair the International NF1 Cognitive Task Force, convened by the NIH in 1996.
  • Session Convenor and Chairman at Banbury Centre Conference on Developing Therapies for NF1 at Cold Spring Harbor, New York, 1997.
  • Invited Convenor, Chair and Plenary Speaker in Session on NF1 Cognitive Phenotype at NIH sponsored NF Symposium in Canada, 2001.
  • Over 25 publications on the clinical and cognitive features of NF1. Invited to contribute chapter on Cognitive Deficits in NF1 to the major international texts concerning Neurofibromatosis (published by Johns Hopkins University Press and Humana Press in the US), as well as invited reviews on NF1 for major international journals. Prof North is the sole author on an international textbook on NF1 in childhood.
  • Three grants for NF research from the US (Two from NIH and one from the National NF Foundation).
  • Development of Clinical Protocols for Patient Management of NF1 and NF2 for the Human Genetics Society of Australasia.

NF 1 Learning Disabilities Research Clinic

Dr Shelley Hyman (Co-team leader), Dr Belinda Barton (Co-team leader), Sharon Watt (Neuropsychologist), Jennifer Irle (Doctorate student), Jennifer Lorenzo (Psychologist)

The unit has a longstanding interest in cognitive deficits and learning disabilities in children with NF1. The Unit's research has led to the definition of the cognitive phenotype, the identification of a radiological marker for cognitive deficits and development of an Education Clinic for children with NF1. Our current NF research is funded by US government and focuses on the functional correlates of neuropsychological deficits and the development of therapeutic interventions.

Future research topics

In collaboration with other research units within The Children's Hospital at Westmead and at The University of Sydney, the NF1 research program is set to expand with the study of:

  • Early indicators of cognitive dysfunction in children with NF1
  • Development of therapeutic strategies for learning difficulties in NF1
  • The basis for bony defects in NF1 - pseudoarthrosis and scoliosis and development of therapies to improve bone healing (collaboration with Dr David Little at CHW)
  • The psychosocial burden of NF1 - maintaining self esteem in young adults
  • Improving therapeutic strategies for cutaneous neurofibromas in NF1

Selected Publications

Gill DS, Hyman SL, Steinberg A, North KN. Age-related findings on MRI in Neurofibromatosis type 1. Am J Neuroradiol 2005; Submitted

Hyman S, Shores A, North KN. The Nature and frequency of cognitive deficits in children with Neurofibromatosis type 1. Neurology 2005; In press.

Favaloro EJ, Zafer M, Nair S, Hertzberg M, North K. Evaluation of primary haemostasis in people with Neurofibromatosis Type 1. Clinical and Laboratory Haematology, 2004, 26:341-345.

Thiagalingam S, Flaherty M, Billson F, North KN. Neurofibromatosis type 1 and optic pathway gliomas: follow up of 54 patients. Ophthalmology 2004;111:568-577.

Hyman SL, Gill DS, Shores, EA, Gibikote S, Joy P, Steinberg A, North K. Natural history of neuropsychological ability and MRI T2-hyperintensities in patients with NF1. Neurology 2003;60:1139-1145.

North KN, Hyman S, Barton B. Cognitive functioning in Neurofibromatosis type 1. J Child Neurol 2002;17(8):605-12

Young H, Hyman S, North K. Neurofibromatosis type 1: Clinical review and Exceptions to the Rules. J Child Neurol 2002;17(8):613-21.

Ng Y, North KN. Visual evoked potentials in the assessment of optic pathway gliomas in neurofibromatosis type 1. Paediatric Neurology 2001;24:44-48.

North KN, Riccardi V, Samango-Sprouse C, Moore BD, Ferner F, Legius E, Ratner N, Denckla MB. Cognitve function and academic performance in neurofibromatosis 1: Consensus statement from the NF1 Cognitive Disorders Task Force. Neurology 1997;48:1121-1127.

This document was published on Tuesday, 9 August 2005.

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