Research Topics
Species | HELEN M LEONARDSummaryAffiliation: University of Western Australia Country: Australia Publications
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Publications
Relation between intrauterine growth and subsequent intellectual disability in a ten-year population cohort of children in Western AustraliaHelen Leonard
Telethon Institute for Child Health Research, Centre for Child Health Research, University of Western Australia, West Perth, Australia
Am J Epidemiol 167:103-11. 2008..36, 95% CI: 0.93, 6.03). These findings suggest that inappropriate intrauterine growth, less than or greater than optimal birth weight, is associated with development of ID...- Maternal health in pregnancy and intellectual disability in the offspring: a population-based studyHelen Leonard
Telethon Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, West Perth, Australia
Ann Epidemiol 16:448-54. 2006..The aim of the study is to investigate the relationship between common maternal conditions and intellectual disability (ID) of unknown cause in the offspring... - Genotype and early development in Rett syndrome: the value of international dataHelen Leonard
Telethon Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, Perth, Western Australia
Brain Dev 27:S59-S68. 2005..Originally the syndrome was characterised as having a normal prenatal and perinatal period with later regression. Previous work has speculated that the girl with Rett syndrome may not be normal at birth... - Valproate and risk of fracture in Rett syndromeH Leonard
Telethon Institute for Child Health Research, Centre for Child Health Research, University of Western Australia, West Perth, Western Australia
Arch Dis Child 95:444-8. 2010..This study investigated the relationships between fracture risk and commonly used AEDs in Rett syndrome, a genetic disorder associated with intellectual and physical disability... - How can the Internet help parents of children with rare neurologic disorders?Helen Leonard
Telethon Institute for Child Health Research and Centre for Child Health Research, The University of Western Australia, West Perth, Australia
J Child Neurol 19:902-7. 2004..Their impact and influence warrant attention from health professionals, including neurologists... - Association of sociodemographic characteristics of children with intellectual disability in Western AustraliaHelen Leonard
Centre for Child Health Research, Telethon Institute for Child Health Research, The University of Western Australia, P O Box 855, West Perth, WA 6872, Australia Disability Services Commission, Western Australia, Australia
Soc Sci Med 60:1499-513. 2005..Furthermore, many of the sociodemographic correlates identified in this study, particularly in the mild/moderate category of ID, are potentially modifiable, opening up opportunities for primary prevention... - Trisomy 21 and Rett syndrome: a double burdenH Leonard
Centre for Child Health Research, The University of Western Australia, Telethon Institute for Child Health Research, Perth, Western Australia
J Paediatr Child Health 40:406-9. 2004..The presence of one neurological or developmental disorder does not necessarily preclude a diagnosis of Rett syndrome... - Level of purposeful hand function as a marker of clinical severity in Rett syndromeJenny Downs
Centre for Child Health Research, Telethon Institute for Child Health Research, University of Western Australia, Perth, Australia
Dev Med Child Neurol 52:817-23. 2010..We investigated relationships between hand function and genotype and aspects of phenotype in Rett syndrome... - Early determinants of fractures in Rett syndromeJennepher Downs
Centre for Child Health Research, University of Western Australia, Telethon Institute for Child Health Research, Perth, Western Australia, 6872
Pediatrics 121:540-6. 2008.... - Rett syndrome in Australia: a review of the epidemiologyCrystal L Laurvick
Telethon Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, Perth
J Pediatr 148:347-52. 2006..Girls with RTT have worse survival compared with the general female population. When more data are available, it will be possible to evaluate the relationship between survival and specific MECP2 mutations... - InterRett and RettBASE: International Rett Syndrome Association databases for Rett syndromeSusan Fyfe
School of Biomedical Sciences, Curtin University of Technology, Perth, WA, Australia
J Child Neurol 18:709-13. 2003..This Web-based database will be an invaluable resource for understanding the nature of the disorder and managing children and adults with Rett syndrome... - The use of cross-jurisdictional population data to investigate health indicators of child maltreatmentMelissa O'Donnell
Telethon Institute for Child Health Research, Centre for Child Health Research, University of Western Australia, Perth, WA, Australia
Med J Aust 193:142-5. 2010.... - Characteristics of non-Aboriginal and Aboriginal children and families with substantiated child maltreatment: a population-based studyMelissa O'Donnell
Telethon Institute for Child Health Research, Centre for Child Health Research, University of Western Australia, Perth, WA, Australia
Int J Epidemiol 39:921-8. 2010..To investigate specific child and parental factors associated with increased vulnerability to substantiated child maltreatment... - Impact of scoliosis surgery on activities of daily living in females with Rett syndromeJenny Downs
Telethon Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, Perth, Western Australia
J Pediatr Orthop 29:369-74. 2009..Scoliosis is a common orthopaedic complication of Rett syndrome, and surgery is commonly used to reduce asymmetry in cases with severe scoliosis... - Increasing prevalence of neonatal withdrawal syndrome: population study of maternal factors and child protection involvementMelissa O'Donnell
Telethon Institute for Child Health Research, 100 Roberts Rd, Subiaco, WA, 6008, Australia
Pediatrics 123:e614-21. 2009..The aim of this study was to measure the birth prevalence of neonatal withdrawal syndrome over time, associated maternal characteristics and child protection involvement... - Intellectual disability co-occurring with schizophrenia and other psychiatric illness: population-based studyVera A Morgan
Neuropsychiatric Epidemiology Research Unit, School of Psychiatry and Clinical Neurosciences, The University of Western Australia, Australia
Br J Psychiatry 193:364-72. 2008..The separation of mental health from intellectual disability services has led to a serious underestimation of the prevalence of dual diagnosis, with clinicians ill-equipped to treat affected individuals... - Association of birth outcomes and maternal, school, and neighborhood characteristics with subsequent numeracy achievementEva Malacova
Telethon Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, Subiaco, Western Australia, Australia
Am J Epidemiol 168:21-9. 2008..In summary, term birth and increased growth in head circumference and length are key birth characteristics associated with higher numeracy scores, especially among disadvantaged children... - Feeding experiences and growth status in a Rett syndrome populationWendy H Oddy
Centre for Child Health Research, University of Western Australia, Telethon Institute for Child Health Research, Perth, Australia
J Pediatr Gastroenterol Nutr 45:582-90. 2007..Feeding difficulties in Rett syndrome are complex and multifactorial. In this study, we describe the feeding experiences in Rett syndrome and examine the factors affecting growth... - The epidemiology of mental retardation: challenges and opportunities in the new millenniumHelen Leonard
Centre for Child Health Research, The University of Western Australia, Telethon Institute for Child Health Research, West Perth, Australia
Ment Retard Dev Disabil Res Rev 8:117-34. 2002..However, in order to apply to MR the "prevention-intervention-research" cycle, which surely underpins all epidemiology, it is vital to ensure that the methodological challenges we raise are adequately addressed... - The diagnosis of autism in a female: could it be Rett syndrome?Deidra J Young
Centre for Child Health Research, Telethon Institute for Child Health Research, University of Western Australia, Perth, WA, Australia
Eur J Pediatr 167:661-9. 2008..We recommend that females who are initially considered to have autism be carefully monitored for the evolution of the signs and symptoms of Rett syndrome... - Sleep problems in Rett syndromeDeidra Young
Centre for Child Health Research, Telethon Institute for Child Health Research, University of Western Australia, 100 Roberts Road, Subiaco, WA 6008, Australia
Brain Dev 29:609-16. 2007..R294X or p.R306C mutations. Sleep problems are common in Rett syndrome and there is some variation with age and mutation type... - Prevalence of intellectual disability in Western AustraliaHelen Leonard
Centre for Child Health Research, The University of Western Australia, Telethon Institute for Child Health Research, Western Australia
Paediatr Perinat Epidemiol 17:58-67. 2003..3). Although prevalence of intellectual disability has been found to vary according to study location, method of ascertainment and criteria used, these estimates are similar to estimates from several recent studies... - Health service use in Rett syndromeHannah Moore
Telethon Institute for Child Health Research and Centre for Child Health Research, University of Western Australia, Perth, Western Australia
J Child Neurol 20:42-50. 2005..Both genetic and sociodemographic determinants of health service use were identified, with important implications for the optimal and equitable management of children with Rett syndrome... - Effectiveness of posthumous molecular diagnosis from a kept baby toothHelen Leonard
Centre for Child Health Research, University of Western Australia, Telethon Institute for Child Health Research, Perth, Western Australia
Lancet 366:1584. 2005 - Atypical presentations and specific genotypes are associated with a delay in diagnosis in females with Rett syndromeStephanie Fehr
The Telethon Institute for Child Health Research, Centre for Child Health Research, University of Western Australia, Perth, Western Australia, Australia
Am J Med Genet A 152:2535-42. 2010..R133C or p.R294X mutation. Educational resources to assist this understanding including guidance on when to request genetic testing could be useful to streamline the process of diagnosis in Rett syndrome... - The association between behavior and genotype in Rett syndrome using the Australian Rett Syndrome DatabaseLaila Robertson
Telethon Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, Western Australia, Australia
Am J Med Genet B Neuropsychiatr Genet 141:177-83. 2006..Some behaviors differ according to genetic mutation but there is both inter and intra mutation variation in behavior and there is a need for larger studies involving international collaboration to improve statistical power... - Physical and mental health of mothers caring for a child with Rett syndromeCrystal L Laurvick
Telethon Institute for Child Health Research, University of Western Australia, Perth, Western Australia, Australia
Pediatrics 118:e1152-64. 2006..Our goal was to investigate the physical and mental health of mothers who care for a child with Rett syndrome... - Predictors of scoliosis in Rett syndromeSarah Ager
Telethon Institute for Child Health Research and Centre for Child Health Research, University of Western Australia, West Perth, WA 6872, Australia
J Child Neurol 21:809-13. 2006..When seven common point mutations and large genomic and C-terminal deletions were compared, the R294X mutation appeared to provide some protective effect against the development of scoliosis... - Autism spectrum disorders in young children: effect of changes in diagnostic practicesNatasha Nassar
Telethon Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, West Perth, WA, Australia
Int J Epidemiol 38:1245-54. 2009.... - Stereotypical hand movements in 144 subjects with Rett syndrome from the population-based Australian databasePhilippa Carter
Telethon Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, West Perth, Western Australia
Mov Disord 25:282-8. 2010..Results were similar for all cases and when restricted to those with a pathogenic mutation. Hand stereotypies changed with increasing age but limited relationships with MECP2 mutations were identified... - Co-occurrence of birth defects and intellectual disabilityBeverly Petterson
Telethon Institute for Child Health Research, Centre for Child Health Research, University of Western Australia, West Perth, WA 6872, Australia
Paediatr Perinat Epidemiol 21:65-75. 2007..4] respectively. The data are useful for those providing services for children with developmental disabilities especially for predicting family support and respite and accommodation requirements for children and adults with severe ID... - Physical and mental health in mothers of children with Down syndromeJenny Bourke
Telethon Institute for Child Health Research, Centre for Child Health Research, University of Western Australia, Perth, Western Australia
J Pediatr 153:320-6. 2008..To identify the relationship between characteristics of the child with Down syndrome and the health of their mother... - p.R270X MECP2 mutation and mortality in Rett syndromeLe Jian
Telethon Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, Perth, Western Australia, Australia
Eur J Hum Genet 13:1235-8. 2005..94, P=0.01). Our observation of a reduced survival associated with the p.R270X mutation offers an explanation for the under representation of p.R270X in older subjects with Rett syndrome... - Seizures in Rett syndrome: an overview from a one-year calendar studyLe Jian
Centre for Child Health Research, The University of Western Australia, Telethon Institute for Child Health Research, West Perth, WA 6872, Australia
Eur J Paediatr Neurol 11:310-7. 2007..It is principally caused by mutations in the MECP2 gene. Seizures occur in about 80% of subjects but there has been little research into the factors contributing to their frequency... - Linking MECP2 and pain sensitivity: the example of Rett syndromeJenny Downs
Telethon Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, West Perth, Australia
Am J Med Genet A 152:1197-205. 2010..Clinical practice should include a low threshold for the clinical assessment of potential injuries in Rett syndrome... - Predictors of seizure onset in Rett syndromeLe Jian
Centre for Child Health Research, The University of Western Australia, Telethon Institute for Child Health Research, Perth, Western Australia, Australia
J Pediatr 149:542-7. 2006..08). CONCLUSIONS: Seizure onset in Rett syndrome is associated with early developmental factors and with genotype. Information on these factors can be used to predict age at seizure onset after diagnosis... - Parental experiences of scoliosis management in Rett syndromeSarah Ager
Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Western Australia
Disabil Rehabil 31:1917-24. 2009..Parents of affected individuals are vital partners in the clinical management of scoliosis and this study explored parental experiences of various aspects of different management options... - Guidelines for management of scoliosis in Rett syndrome patients based on expert consensus and clinical evidenceJenny Downs
Centre for Child Health Research, Telethon Institute for Child Health Research, Perth, Australia
Spine (Phila Pa 1976) 34:E607-17. 2009..Modified Delphi technique...
Research Grants
- Rett syndrome: determinants of outcome and burdenHelen Leonard; Fiscal Year: 2007..Feedback to families on study progress will be given through the study Web site. ..