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Does the cognitive and psychosocial profile of children with velocardiofacial syndrome (VCFS) differ from an IQ matched control group?
Early identification of cognitive deficits in children with Neurofibromatosis Type 1.
Full time workers caring for children with chronic illness: A national study.
The effects of disease of the cerebellum in childhood on motor, language, cognitive and academic abilities.

Does the cognitive and psychosocial profile of children with velocardiofacial syndrome (VCFS) differ from an IQ matched control group?

Investigators: Dr Belinda Barton, Head, Children’s Hospital Education Research Institute (CHERI), Children’s Hospital at Westmead (CHW); Neil Nicoll, Psychologist, CHERI; Susan van den Berg, Doctorate of Clinical Neuropsychology Student, Macquarie University; Dr David Dossetor, Head, Department of Psychological Medicine, CHW; Sharon Watt, Neuropsychologist, Neurogenetics Research Unit, CHW; Dr Arthur Shores, Associate Professor, Macquarie University; Dr Meredith Wilson, Head, Clinical Genetics, CHW.

Funding: Perpetual Foundation (2005 – 2006)

Building on our previous research, this study aims to obtain a more detailed profile of specific cognitive and psychosocial functioning of children with VCFS. Studies of children with VCFS have confirmed a wide variation in intelligence, with a high percentage of IQ scores falling in the mental retardation range. Deficits in executive functioning, memory and sustained attention are also reported. However, it is not known whether these deficits are specific to VCFS or due to lower intellectual abilities in individuals with VCFS. This study will compare the cognitive and psychosocial profile of children with VCFS to an IQ-matched control group of children. This will allow us to determine whether some cognitive deficits found in children with VCFS are specific to the disorder or due to lower general intellectual functioning. There is also a high frequency of psychiatric illness such as schizophrenia and bipolar disorder in individuals with VCFS. Prepsychotic or prodromal phases of schizophrenia and other psychotic disorders are characterised by a change in premorbid functioning. As part of this study, children will be screened for symptoms of prepsychotic or psychiatric disorders.

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Early identification of cognitive deficits in children with Neurofibromatosis Type 1.

Investigators: Professor Kathryn North, Neurogenetics Research Unit, CHW; Dr Shelley Hyman, Neurogenetics Research Unit, CHW; Clinical Associate Professor Arthur Shores, Neurogenetics Research Unit, CHW and Department of Psychology, Macquarie University; Dr Belinda Barton, Head, CHERI, CHW; Ms Sharon Watt, Neurogenetics Research Unit, CHW.

Funding: U.S. Army Medical Research and Materiel Command (USAMRMC), Department of Defense, Neurofibromatosis Research Program

Neurofibromatosis Type 1 (NF1) is a genetic disorder that affects the nervous system, with a prevalence of around 1 in 3500 people. Physical features of the disorder include café au lait spots, neurofibromas, and freckling in the axillary or inguinal regions. Common complications of NF1 in childhood include cognitive and learning difficulties, which can affect up to 60% of children. These difficulties can contribute to attention problems, poor social skills, school failure, and limited career options. Many factors influence a person’s cognitive development, such as their genetic background, home life, or learning environment.

Research over the past two decades has focused primarily on learning difficulties in older children with NF1. However, very little is known about how infants and preschool children with NF1 grow and develop. The aims of this study are to gain a better understanding of the early cognitive development of young children with NF1 and to monitor their development of cognitive skills over a 7 year period. We will also compare the cognitive development of children with NF1 to the cognitive development of children without NF1. This comparison will allow us to detect changes in performance that are more likely to be due to NF1 alone. Early identification of cognitive strengths and weakness may help us identify the factors that place young children with NF1 at risk for learning problems later in life. The study may also help us develop remediation treatments for children with NF1 who experience cognitive difficulties.

This a collaborative study being undertaken by CHW, Sydney, Australia and The Children’s National Medical Centre, Washington DC, United States of America. The study commenced in late 2004.

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Full time workers caring for children with chronic illness: A national study

Investigators: Ajesh George, Doctoral student, School of Management, University of Western Sydney (UWS); Dr Margaret Vickers, School of Management, UWS; Professor Lesley Wilkes, School of Nursing, Family and Community Health, UWS; Dr Belinda Barton, Head, CHERI, CHW.

Funding: ARC Linkage Grant (2005 – 2008) in conjunction with UWS and CHERI

It is increasingly the trend that, for both children and adults, health problems are chronic, that is long-lasting, rather than acute and immediately life-threatening. There has been much research into the problems of adults and children with chronic illness, as well as the role of carers. However, there have been no comprehensive studies examining the experiences and support needs of full time workers who care for children with chronic illness.

This study will identify the support needs of full time workers who care for a child with a chronic illness in metropolitan areas in Australia. This study involves participation in an interview to identify any support needs parents may have. This information will be used to develop a questionnaire addressing the support needs of fulltime workers caring for a child with a chronic illness. This questionnaire will be piloted and then distributed nationally to people who work fulltime and care for a child with a chronic illness. Results of this study will be used to make recommendations to policy makers in workplaces, unions and employer groups, as well as the development of home, community, and employment support and information services.

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The effects of disease of the cerebellum in childhood on motor, language, cognitive and academic abilities.

Investigators: Professor Max Coltheart, Academic Director, CHERI, CHW; Dr Genevieve McArthur, NHMRC Howard Florey Research Fellow, Macquarie Centre for Cognitive Science (MACCS), Macquarie University; Dr Richard Webster, Research Neurologist, CHERI, CHW; Sara Coombes, Clinical Neuropsychologist, CHW; Chris Chapparo, Occupational Therapist/ Senior Lecturer, Cumberland College of Health Sciences; Jeanette Cowell, Speech-Language Pathologist, CHW.

Funding: Macquarie University Research Development Grant Scheme (2005 – 2006)

Diseases that damage the cerebellum are not uncommon in childhood. There is increasing evidence that the cerebellum participates in higher level brain functions such as language, attention, memory and problem solving. This project aims to find out whether children who suffer damage to their cerebellum in childhood have later problems in these areas and how these problems impact on a child’s education and learning. The study will provide further information about the role of the cerebellum in child development. The results of this study will allow more accurate counselling and better targeted monitoring for children who have had cerebellar damage.

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