Contact

All Stories

  1. Beyond Seizures as an Outcome Measure: A Global Severity Scoring System for CDKL5 Deficiency Disorder

    Article • Brain and Behavior, November 2025, Wiley

    Dr Helen Leonard

  2. Parent/caregiver perspectives of meaningful improvement in functional domains for people with CDKL5 deficiency disorder: a mixed-methods study

    Article • Quality of Life Research, September 2025, Springer Science + Business Media

    Dr Helen Leonard

  3. Content Validation of the Communication Inventory Disability–Observer Reported (CID-OR)

    Article • Journal of Child Neurology, September 2025, SAGE Publications

    Dr Helen Leonard

  4. Caregivers’ Perceptions of Clinical Symptoms, Disease Management, and Quality of Life Impact in Cases of Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Cross-Sectional Online Survey

    Article • JMIR Formative Research, June 2025, JMIR Publications Inc.

    Dr Helen Leonard

  5. Caregivers’ Perceptions of Clinical Symptoms, Disease Management, and Quality of Life Impact in Cases of Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Cross-Sectional Online Survey (Preprint)

    Article • February 2025, JMIR Publications Inc.

    Dr Helen Leonard

  6. International workshop: what is needed to ensure outcome measures for Rett syndrome are fit-for-purpose for clinical trials? June 7, 2023, Nashville, USA

    Article • Trials, December 2024, Springer Science + Business Media

    Dr Helen Leonard

  7. Measuring the burden of epilepsy hospitalisations in CDKL5 Deficiency Disorder

    Article • Pediatric Neurology, November 2024, Elsevier

    Dr Helen Leonard

  8. Associations between genotype, phenotype and behaviours measured by the Rett syndrome behaviour questionnaire in Rett syndrome

    Article • Journal of Neurodevelopmental Disorders, October 2024, Springer Science + Business Media

    Dr Helen Leonard

  9. Psychometric evaluation of clinician‐ and caregiver‐reported clinical severity assessments for individuals with CDKL5 deficiency disorder

    Article • Epilepsia, August 2024, Wiley

    Dr Helen Leonard

  10. Parent‐reported outcome measures evaluating communication in individuals with rare neurodevelopmental disorders: A systematic review

    Article • International Journal of Language & Communication Disorders, August 2024, Wiley

    Dr Helen Leonard

  11. Caregiver Perspective of Benefits and Side Effects of Anti-Seizure Medications in CDKL5 Deficiency Disorder from an International Database

    Article • CNS Drugs, July 2024, Springer Science + Business Media

    Dr Helen Leonard

  12. Growth patterns in individuals with CDKL5 deficiency disorder

    Article • Developmental Medicine & Child Neurology, October 2023, Wiley

    Dr Helen Leonard

  13. How Families Manage the Complex Medical Needs of Their Children with MECP2 Duplication Syndrome

    Article • Children, July 2023, MDPI AG

    Dr Helen Leonard

  14. Genotype and sleep independently predict mental health in Rett syndrome: an observational study

    Article • Journal of Medical Genetics, April 2023, BMJ

    Dr Helen Leonard

  15. Australian children living with rare diseases: health service use and barriers to accessing care

    Article • World Journal of Pediatrics, January 2023, Springer Science + Business Media

    Dr Helen Leonard

  16. Can telehealth increase physical activity in individuals with Rett syndrome? A multicentre randomized controlled trial

    Article • Developmental Medicine & Child Neurology, October 2022, Wiley

    Dr Helen Leonard

  17. Correction to: Factors influencing the attainment of major motor milestones in CDKL5 deficiency disorder

    Article • European Journal of Human Genetics, October 2022, Springer Science + Business Media

    Dr Helen Leonard

  18. “What about us?”‐ the drawbacks of current bruxism assessment criteria in evaluating vulnerable groups

    Article • Oral Diseases, August 2022, Wiley

    Dr Helen Leonard

  19. Factors influencing the attainment of major motor milestones in CDKL5 deficiency disorder

    Article • European Journal of Human Genetics, August 2022, Springer Science + Business Media

    Dr Helen Leonard

  20. Modelling quality of life in children with intellectual disability using regression trees

    Article • Developmental Medicine & Child Neurology, March 2022, Wiley

    Dr Helen Leonard

  21. Daytime sleepiness and emotional and behavioral disturbances in Prader-Willi syndrome

    Article • European Journal of Pediatrics, March 2022, Springer Science + Business Media

    Dr Helen Leonard

  22. A brief history of MECP2 duplication syndrome: 20-years of clinical understanding

    Article • Orphanet Journal of Rare Diseases, March 2022, Springer Science + Business Media

    Dr Helen Leonard

  23. Enablers and barriers in dental attendance in Rett syndrome: an international observational study

    Article • Special Care in Dentistry, March 2022, Wiley

    Dr Helen Leonard

  24. Improving clinical trial readiness to accelerate development of new therapeutics for Rett syndrome

    Article • Orphanet Journal of Rare Diseases, March 2022, Springer Science + Business Media

    Dr Helen Leonard

  25. Devising a Missing Data Rule for a Quality of Life Questionnaire—A Simulation Study

    Article • Journal of Developmental & Behavioral Pediatrics, January 2022, Wolters Kluwer Health

    Dr Helen Leonard

  26. Influences on the trajectory and subsequent outcomes in CDKL5 deficiency disorder

    Article • Epilepsia, November 2021, Wiley

    Dr Helen Leonard

  27. The perceived effects of cannabis products in the management of seizures in CDKL5 Deficiency Disorder

    Article • Epilepsy & Behavior, September 2021, Elsevier

    Dr Helen Leonard

  28. Optimal interpregnancy interval in autism spectrum disorder: A multi‐national study of a modifiable risk factor

    Article • Autism Research, August 2021, Wiley

    Dr Helen Leonard

  29. Oral health care and service utilisation in individuals with Rett syndrome: an international cross‐sectional study

    Article • Journal of Intellectual Disability Research, March 2021, Wiley

    Dr Helen Leonard

  30. Oral health education and promotion in special needs children: Systematic review and meta‐analysis

    Article • Oral Diseases, December 2020, Wiley

    Dr Helen Leonard

  31. Implementing telehealth support to increase physical activity in girls and women with Rett syndrome—ActivRett: protocol for a waitlist randomised controlled trial

    Article • BMJ Open, December 2020, BMJ

    Dr Helen Leonard

  32. Exploring genotype‐phenotype relationships in the CDKL5 deficiency disorder using an international dataset

    Article • Clinical Genetics, October 2020, Wiley

    Dr Helen Leonard

  33. Functioning, participation, and quality of life in children with intellectual disability: an observational study

    Article • Developmental Medicine & Child Neurology, August 2020, Wiley

    Dr Helen Leonard

  34. Determinants of quality of life in Rett syndrome: new findings on associations with genotype

    Article • Journal of Medical Genetics, August 2020, BMJ

    Dr Helen Leonard

  35. Modifiable child and caregiver factors that influence community participation among children with Down syndrome

    Article • Disability and Rehabilitation, June 2020, Taylor & Francis

    Dr Helen Leonard

  36. Exploring quality of life in individuals with a severe genetic condition, CDKL5 Deficiency Disorder.

    Article • May 2020, Research Square

    Dr Helen Leonard

  37. Expanding the phenotype of the CDKL5 deficiency disorder: Are seizures mandatory?

    Article • American Journal of Medical Genetics Part A, February 2020, Wiley

    Dr Helen Leonard

  38. Systematic Review and Meta-Analysis: Mental Health in Children With Neurogenetic Disorders Associated With Intellectual Disability

    Article • Journal of the American Academy of Child & Adolescent Psychiatry, January 2020, Elsevier

    Dr Helen Leonard

  39. Predicting Long-Term Survival Without Major Disability for Infants Born Preterm

    Article • The Journal of Pediatrics, December 2019, Elsevier

    Dr Helen Leonard

  40. Assessing the quality, efficiency and usefulness of the Western Australian population-based Intellectual Disability Exploring Answers (IDEA) surveillance system: a surveillance system evaluation

    Article • BMJ Open, October 2019, BMJ

    Dr Helen Leonard

  41. Data Linkage: Canadian and Australian Perspectives on a Valuable Methodology for Intellectual and Developmental Disability Research

    Article • Intellectual and Developmental Disabilities, October 2019, American Association on Intellectual and Developmental Disabilities (AAIDD)

    Dr Helen Leonard

  42. Hospital admissions in children with developmental disabilities from ethnic minority backgrounds

    Article • Developmental Medicine & Child Neurology, September 2019, Wiley

    Dr Helen Leonard

  43. Understanding quality of life in adults with Rett syndrome

    Article • Disability and Rehabilitation, May 2019, Taylor & Francis

    Dr Helen Leonard, Aleisha Strugnell

  44. Patterns of sedentary time and ambulatory physical activity in a Danish population of girls and women with Rett syndrome

    Article • Disability and Rehabilitation, October 2017, Taylor & Francis

    Dr Helen Leonard

  45. Rare disease: a national survey of paediatricians’ experiences and needs

    Article • BMJ Paediatrics Open, October 2017, BMJ

    Dr Helen Leonard

  46. Twenty-Five Year Survival of Children with Intellectual Disability in Western Australia

    Article • The Journal of Pediatrics, September 2017, Elsevier

    Dr Helen Leonard

  47. Exploring quality of life of children with cerebral palsy and intellectual disability: What are the important domains of life?

    Article • Child Care Health and Development, July 2017, Wiley

    Dr Helen Leonard

  48. Use of the ketogenic diet to manage refractory epilepsy in CDKL5 disorder: Experience of >100 patients

    Article • Epilepsia, June 2017, Wiley

    Dr Helen Leonard

  49. Autonomic breathing abnormalities in Rett syndrome: caregiver perspectives in an international database study

    Article • Journal of Neurodevelopmental Disorders, April 2017, Springer Science + Business Media

    Dr Helen Leonard

  50. Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays

    Article • Orphanet Journal of Rare Diseases, April 2017, Springer Science + Business Media

    Dr Helen Leonard

  51. Feasibility of Assessing Diet with a Mobile Food  Record for Adolescents and Young Adults with  Down Syndrome

    Article • Nutrients, March 2017, MDPI AG

    Dr Helen Leonard

  52. Maltreatment Risk Among Children With Disabilities

    Article • PEDIATRICS, March 2017, American Academy of Pediatrics (AAP)

    Dr Helen Leonard

  53. Quantification of walking-based physical activity and sedentary time in individuals with Rett syndrome

    Article • Developmental Medicine & Child Neurology, February 2017, Wiley

    Dr Helen Leonard

  54. Choice making in Rett syndrome: a descriptive study using video data

    Article • Disability and Rehabilitation, January 2017, Taylor & Francis

    Dr Helen Leonard

  55. Impacts of caring for a child with the CDKL5 disorder on parental wellbeing and family quality of life

    Article • Orphanet Journal of Rare Diseases, January 2017, Springer Science + Business Media

    Dr Helen Leonard

  56. Qualitative Analysis of Parental Observations on Quality of Life in Australian Children with Down Syndrome

    Article • Journal of Developmental & Behavioral Pediatrics, January 2017, Wolters Kluwer Health

    Dr Helen Leonard

  57. Will C-section Increase Your Baby's risk of Autism

    Article • International Journal of Epidemiology, December 2016, Oxford University Press (OUP)

    Dr Helen Leonard, Dr Benjamin HK Yip

  58. Major advances in the understanding of Rett syndrome over the past 50 years

    Article • Nature Reviews Neurology, December 2016, Nature

    Dr Helen Leonard

  59. An Exploration of the Use of Eye Gaze and Gestures in Females With Rett Syndrome

    Article • Journal of Speech Language and Hearing Research, December 2016, American Speech-Language-Hearing Association (ASHA)

    Dr Helen Leonard, Associate Professor Natalie Ciccone

  60. Twenty-five-year survival for aboriginal and caucasian children with congenital heart defects in Western Australia, 1980 to 2010

    Article • Birth Defects Research Part A Clinical and Molecular Teratology, November 2016, Wiley

    Dr Helen Leonard

  61. Seizure variables and their relationship to genotype and functional abilities in the CDKL5 disorder

    Article • Neurology, October 2016, Wolters Kluwer Health

    Dr Helen Leonard

  62. Building the repertoire of measures of walking in Rett syndrome

    Article • Disability and Rehabilitation, August 2016, Taylor & Francis

    Dr Helen Leonard

  63. Functional abilities in children and adults with the CDKL5 disorder

    Article • American Journal of Medical Genetics Part A, August 2016, Wiley

    Dr Helen Leonard

  64. A qualitative investigation of recovery after femoral fracture in Rett syndrome

    Article • Child Care Health and Development, August 2016, Wiley

    Dr Helen Leonard

  65. Quantitative and qualitative insights into the experiences of children with Rett syndrome and their families

    Article • Wiener Medizinische Wochenschrift, August 2016, Springer Science + Business Media

    Dr Helen Leonard

  66. Association of gestational age and growth measures at birth with infection-related admissions to hospital throughout childhood: a population-based, data-linkage study from Western Australia

    Article • The Lancet Infectious Diseases, August 2016, Elsevier

    Dr Helen Leonard

  67. Expanding the clinical picture of theMECP2Duplication syndrome

    Article • Clinical Genetics, July 2016, Wiley

    Dr Helen Leonard

  68. Young People with Intellectual Disability Transitioning to Adulthood: Do Behaviour Trajectories Differ in Those with and without Down Syndrome?

    Article • PLOS One, July 2016, PLOS

    Dr Helen Leonard

  69. Mothers of Children with Autism have Different Rates of Cancer According to the Presence of Intellectual Disability in Their Child

    Article • Journal of Autism and Developmental Disorders, July 2016, Springer Science + Business Media

    Dr Helen Leonard

  70. Determinants of sleep disturbances in Rett syndrome: Novel findings in relation to genotype

    Article • American Journal of Medical Genetics Part A, June 2016, Wiley

    Dr Helen Leonard

  71. How can clinical ethics guide the management of comorbidities in the child with Rett syndrome?

    Article • Journal of Paediatrics and Child Health, May 2016, Wiley

    Dr Helen Leonard

  72. Transition to adulthood for young people with intellectual disability: the experiences of their families

    Article • European Child & Adolescent Psychiatry, May 2016, Springer Science + Business Media

    Dr Helen Leonard

  73. Population-Based Prevalence of Intellectual Disability and Autism Spectrum Disorders in Western Australia

    Article • Medicine, May 2016, Wolters Kluwer Health

    Dr Helen Leonard

  74. The Natural History of Scoliosis in Females With Rett Syndrome

    Article • Spine, May 2016, Wolters Kluwer Health

    Dr Helen Leonard

  75. Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome

    Article • Orphanet Journal of Rare Diseases, April 2016, Springer Science + Business Media

    Dr Helen Leonard

  76. Clinical Guidelines for Management of Bone Health in Rett Syndrome Based on Expert Consensus and Available Evidence

    Article • PLOS One, February 2016, PLOS

    Dr Helen Leonard

  77. Improved Survival in Down Syndrome over the Last 60 Years and the Impact of Perinatal Factors in Recent Decades

    Article • The Journal of Pediatrics, February 2016, Elsevier

    Dr Helen Leonard, ANGELA JACQUES

  78. Validating the Rett Syndrome Gross Motor Scale

    Article • PLOS One, January 2016, PLOS

    Dr Helen Leonard

  79. Conceptualizing a quality of life framework for girls with Rett syndrome using qualitative methods

    Article • American Journal of Medical Genetics Part A, December 2015, Wiley

    Dr Helen Leonard

  80. Surgical fusion of early onset severe scoliosis increases survival in Rett syndrome: a cohort study

    Article • Developmental Medicine & Child Neurology, December 2015, Wiley

    Dr Helen Leonard

  81. Brief Report: Burden of Care in Mothers of Children with Autism Spectrum Disorder or Intellectual Disability

    Article • Journal of Autism and Developmental Disorders, October 2015, Springer Science + Business Media

    Dr Helen Leonard

  82. ViPAR: a software platform for the Virtual Pooling and Analysis of Research Data

    Article • International Journal of Epidemiology, October 2015, Oxford University Press (OUP)

    Dr Helen Leonard

  83. Maternal Psychiatric Disorder and the Risk of Autism Spectrum Disorder or Intellectual Disability in Subsequent Offspring

    Article • Journal of Autism and Developmental Disorders, September 2015, Springer Science + Business Media

    Dr Helen Leonard

  84. Maternal mental health and risk of child protection involvement: mental health diagnoses associated with increased risk

    Article • Journal of Epidemiology & Community Health, July 2015, BMJ

    Dr Helen Leonard

  85. Association of Gestational Age at Birth with Reasons for Subsequent Hospitalisation: 18 Years of Follow-Up in a Western Australian Population Study

    Article • PLOS One, June 2015, PLOS

    Dr Helen Leonard

  86. Changes in Caesarean Delivery Rates in Western Australia from 1995 to 2010 by Gestational Age at Birth

    Article • Paediatric and Perinatal Epidemiology, June 2015, Wiley

    Dr Helen Leonard

  87. A validation study of a modified Bouchard activity record that extends the concept of ‘uptime’ to Rett syndrome

    Article • Developmental Medicine & Child Neurology, June 2015, Wiley

    Dr Helen Leonard

  88. Health of mothers of children with intellectual disability or autism spectrum disorder: a review of the literature

    Article • Medical Research Archives, June 2015, Knowledge Enterprise Journals

    Dr Helen Leonard

  89. Autism risk associated with parental age and with increasing difference in age between the parents

    Article • Molecular Psychiatry, June 2015, Springer Science + Business Media

    Dr Helen Leonard

  90. Patterns of Depressive Symptoms and Social Relating Behaviors Differ Over Time From Other Behavioral Domains for Young People With Down Syndrome

    Article • Medicine, May 2015, Wolters Kluwer Health

    Dr Helen Leonard

  91. Longitudinal bone mineral content and density in Rett syndrome and their contributing factors

    Article • Bone, May 2015, Elsevier

    Dr Helen Leonard

  92. Onset of maternal psychiatric disorders after the birth of a child with autism spectrum disorder: A retrospective cohort study

    Article • Autism, February 2015, SAGE Publications

    Dr Helen Leonard

  93. Onset of maternal psychiatric disorders after the birth of a child with intellectual disability: A retrospective cohort study

    Article • Journal of Psychiatric Research, February 2015, Elsevier

    Dr Helen Leonard

  94. There is variability in the attainment of developmental milestones in the CDKL5 disorder

    Article • Journal of Neurodevelopmental Disorders, January 2015, Springer Science + Business Media

    Dr Helen Leonard

  95. The relationship between maternal psychiatric disorder, autism spectrum disorder and intellectual disability in the child: a composite picture

    Article • Journal of Autism, January 2015, Herbert Publications PVT LTD

    Dr Helen Leonard

  96. Early Mortality and Primary Causes of Death in Mothers of Children with Intellectual Disability or Autism Spectrum Disorder: A Retrospective Cohort Study

    Article • PLOS One, December 2014, PLOS

    Dr Helen Leonard

  97. Rett syndrome: establishing a novel outcome measure for walking activity in an era of clinical trials for rare disorders

    Article • Disability and Rehabilitation, December 2014, Taylor & Francis

    Dr Helen Leonard

  98. Experience of Gastrostomy Using a Quality Care Framework

    Article • Medicine, December 2014, Wolters Kluwer Health

    Dr Helen Leonard

  99. Aspects of speech-language abilities are influenced byMECP2mutation type in girls with Rett syndrome

    Article • American Journal of Medical Genetics Part A, November 2014, Wiley

    Dr Helen Leonard

  100. Day occupation is associated with psychopathology for adolescents and young adults with Down syndrome

    Article • BMC Psychiatry, October 2014, Springer Science + Business Media

    Dr Helen Leonard

  101. Influence of the Environment on Participation in Social Roles for Young Adults with Down Syndrome

    Article • PLOS One, September 2014, PLOS

    Dr Helen Leonard

  102. The trajectories of sleep disturbances in Rett syndrome

    Article • Journal of Sleep Research, September 2014, Wiley

    Dr Helen Leonard

  103. Health Conditions and Their Impact among Adolescents and Young Adults with Down Syndrome

    Article • PLOS One, May 2014, PLOS

    Dr Helen Leonard

  104. The increasing prevalence of reported diagnoses of childhood psychiatric disorders: a descriptive multinational comparison

    Article • European Child & Adolescent Psychiatry, May 2014, Springer Science + Business Media

    Dr Helen Leonard

  105. Family satisfaction following spinal fusion in Rett syndrome

    Article • Developmental Neurorehabilitation, April 2014, Taylor & Francis

    Dr Helen Leonard

  106. Parental perspectives on the communication abilities of their daughters with Rett syndrome

    Article • Developmental Neurorehabilitation, February 2014, Taylor & Francis

    Dr Helen Leonard

  107. Prevalence, clinical investigation, and management of gallbladder disease in Rett syndrome

    Article • Developmental Medicine & Child Neurology, February 2014, Wiley

    Dr Helen Leonard

  108. Gastrointestinal Dysmotility in Rett Syndrome

    Article • Journal of Pediatric Gastroenterology and Nutrition, February 2014, Wolters Kluwer Health

    Dr Helen Leonard

  109. Relationship between family quality of life and day occupations of young people with Down syndrome

    Article • Social Psychiatry and Psychiatric Epidemiology, January 2014, Springer Science + Business Media

    Dr Helen Leonard

  110. Twenty years of surveillance in Rett syndrome: what does this tell us?

    Article • Orphanet Journal of Rare Diseases, January 2014, Springer Science + Business Media

    Dr Helen Leonard

  111. “I have a good life”: the meaning of well-being from the perspective of young adults with Down syndrome

    Article • Disability and Rehabilitation, November 2013, Taylor & Francis

    Dr Helen Leonard

  112. Pubertal trajectory in females with Rett syndrome: A population-based study

    Article • Brain and Development, November 2013, Elsevier

    Dr Helen Leonard

  113. Assessment and Management of Nutrition and Growth in Rett Syndrome

    Article • Journal of Pediatric Gastroenterology and Nutrition, October 2013, Wolters Kluwer Health

    Dr Helen Leonard

  114. Hospital Admissions in Children with Down Syndrome: Experience of a Population-Based Cohort Followed from Birth

    Article • PLOS One, August 2013, PLOS

    Dr Helen Leonard

  115. Community participation for girls and women living with Rett syndrome

    Article • Disability and Rehabilitation, July 2013, Taylor & Francis

    Dr Helen Leonard

  116. Perspectives on hand function in girls and women with Rett syndrome

    Article • Developmental Neurorehabilitation, July 2013, Taylor & Francis

    Dr Helen Leonard

  117. Resourceful and creative methods are necessary to research rare disorders

    Article • Developmental Medicine & Child Neurology, April 2013, Wiley

    Dr Helen Leonard

  118. Pre-Existing Differences in Mothers of Children with Autism Spectrum Disorder and/or Intellectual Disability: A Review

    Article • March 2013, IntechOpen

    Dr Helen Leonard

  119. Using a large international sample to investigate epilepsy in Rett syndrome

    Article • Developmental Medicine & Child Neurology, February 2013, Wiley

    Dr Helen Leonard

  120. Maternal Conditions and Perinatal Characteristics Associated with Autism Spectrum Disorder and Intellectual Disability

    Article • PLOS One, January 2013, PLOS

    Professor Craig Edward Pennell, Dr Helen Leonard

  121. Application of Population-Based Linked Data to the Study of Intellectual Disability and Autism

    Article • January 2013, Elsevier

    Dr Helen Leonard

  122. Neonatal complications in public and private patients: a retrospective cohort study

    Article • BMJ Open, January 2013, BMJ

    Dr Helen Leonard

  123. Role of public and private funding in the rising caesarean section rate: a cohort study

    Article • BMJ Open, January 2013, BMJ

    Dr Helen Leonard

  124. Hospitalisation rates for children with intellectual disability or autism born in Western Australia 1983–1999: a population-based cohort study

    Article • BMJ Open, January 2013, BMJ

    Dr Helen Leonard

  125. Intellectual disability: population-based estimates of the proportion attributable to maternal alcohol use disorder during pregnancy

    Article • Developmental Medicine & Child Neurology, December 2012, Wiley

    Dr Helen Leonard

  126. Caring for a child with severe intellectual disability in China: The example of Rett syndrome

    Article • Disability and Rehabilitation, September 2012, Taylor & Francis

    Dr Helen Leonard

  127. The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy

    Article • European Journal of Human Genetics, August 2012, Nature

    Dr Helen Leonard

  128. The phenotype associated with a large deletion on MECP2

    Article • European Journal of Human Genetics, April 2012, Nature

    Dr Helen Leonard

  129. The diagnostic odyssey to Rett syndrome: The experience of an Australian family

    Article • American Journal of Medical Genetics Part A, December 2011, Wiley

    Dr Helen Leonard

  130. Initial assessment of the StepWatch Activity Monitor™ to measure walking activity in Rett syndrome

    Article • Disability and Rehabilitation, November 2011, Taylor & Francis

    Dr Helen Leonard

  131. Barriers to diagnosis of a rare neurological disorder in China-Lived experiences of Rett syndrome families

    Article • American Journal of Medical Genetics Part A, November 2011, Wiley

    Dr Helen Leonard

  132. Direct Health Care Costs of Children and Adolescents with Down Syndrome

    Article • The Journal of Pediatrics, October 2011, Elsevier

    Dr Helen Leonard

  133. Trends in the Diagnosis of Rett Syndrome in Australia

    Article • Pediatric Research, September 2011, Nature

    Dr Helen Leonard

  134. Use of equipment and respite services and caregiver health among Australian families living with Rett syndrome

    Article • Research in Autism Spectrum Disorders, April 2011, Elsevier

    Dr Helen Leonard

  135. Bone Mineral Content and Density in Rett Syndrome and Their Contributing Factors

    Article • Pediatric Research, April 2011, Nature

    Dr Helen Leonard

  136. Measuring use and cost of health sector and related care in a population of girls and young women with Rett syndrome

    Article • Research in Autism Spectrum Disorders, April 2011, Elsevier

    Dr Helen Leonard

  137. Autism and Intellectual Disability Are Differentially Related to Sociodemographic Background at Birth

    Article • PLOS One, March 2011, PLOS

    Dr Helen Leonard

  138. A Comparison of Autism Prevalence Trends in Denmark and Western Australia

    Article • Journal of Autism and Developmental Disorders, February 2011, Springer Science + Business Media

    Dr Helen Leonard

  139. Variation Over Time in Medical Conditions and Health Service Utilization of Children with Down Syndrome

    Article • The Journal of Pediatrics, February 2011, Elsevier

    Dr Helen Leonard

  140. Leisure participation for school-aged children with Down syndrome

    Article • Disability and Rehabilitation, January 2011, Taylor & Francis

    Dr Helen Leonard

  141. The relationship between MECP2 mutation type and health status and service use trajectories over time in a Rett syndrome population

    Article • Research in Autism Spectrum Disorders, January 2011, Elsevier

    Dr Helen Leonard

  142. Unpacking the complex nature of the autism epidemic

    Article • Research in Autism Spectrum Disorders, October 2010, Elsevier

    Dr Helen Leonard

  143. Survival with Rett syndrome: comparing Rett’s original sample with data from the Australian Rett Syndrome Database

    Article • Developmental Medicine & Child Neurology, June 2010, Wiley

    Dr Helen Leonard

  144. LinkingMECP2and pain sensitivity: The example of Rett syndrome

    Article • American Journal of Medical Genetics Part A, May 2010, Wiley

    Dr Helen Leonard

  145. Level of purposeful hand function as a marker of clinical severity in Rett syndrome

    Article • Developmental Medicine & Child Neurology, March 2010, Wiley

    Dr Helen Leonard

  146. Overview of Health Issues in School-aged Children with Down Syndrome

    Article • January 2010, Elsevier

    Dr Helen Leonard

  147. Stereotypical hand movements in 144 subjects with Rett syndrome from the population-based Australian database

    Article • Movement Disorders, November 2009, Wiley

    Dr Helen Leonard

  148. Guidelines for Management of Scoliosis in Rett Syndrome Patients Based on Expert Consensus and Clinical Evidence

    Article • Spine, August 2009, Wolters Kluwer Health

    Dr Helen Leonard

  149. InterRett, a model for international data collection in a rare genetic disorder

    Article • Research in Autism Spectrum Disorders, July 2009, Elsevier

    Dr Helen Leonard

  150. Impact of Scoliosis Surgery on Activities of Daily Living in Females With Rett Syndrome

    Article • Journal of Pediatric Orthopaedics, June 2009, Wolters Kluwer Health

    Dr Helen Leonard

  151. Parental experiences of scoliosis management in Rett syndrome

    Article • Disability and Rehabilitation, January 2009, Taylor & Francis

    Dr Helen Leonard

  152. Is the girl with Rett syndrome normal at birth?

    Article • Developmental Medicine & Child Neurology, November 2008, Wiley

    Dr Helen Leonard

  153. Diagnosis of Rett syndrome: can a radiograph help?

    Article • Developmental Medicine & Child Neurology, November 2008, Wiley

    Dr Helen Leonard

  154. Physical and Mental Health in Mothers of Children with Down Syndrome

    Article • The Journal of Pediatrics, September 2008, Elsevier

    Dr Helen Leonard

  155. Sleep problems in Rett syndrome

    Article • Brain and Development, November 2007, Elsevier

    Dr Helen Leonard, Prof Lakshmi Nagarajan

  156. Seizures in Rett syndrome: An overview from a one-year calendar study

    Article • European Journal of Paediatric Neurology, September 2007, Elsevier

    Dr Helen Leonard

  157. The diagnosis of autism in a female: could it be Rett syndrome?

    Article • European Journal of Pediatrics, August 2007, Springer Science + Business Media

    Dr Helen Leonard

  158. Medical aspects of school-aged children with Down syndrome

    Article • Developmental Medicine & Child Neurology, February 2007, Wiley

    Dr Helen Leonard

  159. A population-based approach to the investigation of osteopenia in Rett syndrome

    Article • Developmental Medicine & Child Neurology, February 2007, Wiley

    Dr Helen Leonard

  160. Co-occurrence of birth defects and intellectual disability

    Article • Paediatric and Perinatal Epidemiology, January 2007, Wiley

    Dr Helen Leonard

  161. Predictors of seizure onset in Rett syndrome

    Article • The Journal of Pediatrics, October 2006, Elsevier

    Dr Helen Leonard

  162. Maternal Health in Pregnancy and Intellectual Disability in the Offspring: A Population-Based Study

    Article • Annals of Epidemiology, June 2006, Elsevier

    Dr Helen Leonard

  163. NTNG1mutations are a rare cause of Rett syndrome

    Article • American Journal of Medical Genetics Part A, April 2006, Wiley

    Dr Helen Leonard

  164. The association between behavior and genotype in Rett syndrome using the Australian Rett Syndrome Database

    Article • American Journal of Medical Genetics Part B Neuropsychiatric Genetics, March 2006, Wiley

    Dr Helen Leonard

  165. Rett syndrome in Australia: A review of the epidemiology

    Article • The Journal of Pediatrics, March 2006, Elsevier

    Dr Helen Leonard

  166. Genotype and early development in Rett syndrome: The value of international data

    Article • Brain and Development, November 2005, Elsevier

    Dr Helen Leonard

  167. Effectiveness of posthumous molecular diagnosis from a kept baby tooth

    Article • The Lancet, October 2005, Elsevier

    Dr Helen Leonard

  168. p.R270X MECP2 mutation and mortality in Rett syndrome

    Article • European Journal of Human Genetics, August 2005, Nature

    Dr Helen Leonard

  169. Association of sociodemographic characteristics of children with intellectual disability in Western Australia

    Article • Social Science & Medicine, April 2005, Elsevier

    Dr Helen Leonard

  170. InterRett—The application of bioinformatics to International Rett syndrome research

    Article • Annals of Human Biology, March 2005, Taylor & Francis

    Dr Helen Leonard

  171. Mutations of CDKL5 Cause a Severe Neurodevelopmental Disorder with Infantile Spasms and Mental Retardation

    Article • The American Journal of Human Genetics, December 2004, Elsevier

    Dr Helen Leonard

  172. Effects ofMECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype

    Article • American Journal of Medical Genetics, March 2003, Wiley

    Dr Helen Leonard

  173. Prevalence of intellectual disability in Western Australia

    Article • Paediatric and Perinatal Epidemiology, January 2003, Wiley

    Dr Helen Leonard

  174. Medium-term open label trial of L-carnitine in Rett syndrome

    Article • Brain and Development, December 2001, Elsevier

    Dr Helen Leonard

  175. Sleep dysfunction in Rett syndrome: lack of age related decrease in sleep duration

    Article • Brain and Development, December 2001, Elsevier

    Dr Helen Leonard

  176. Guidelines for reporting clinical features in cases with MECP2 mutations

    Article • Brain and Development, July 2001, Elsevier

    Dr Helen Leonard

  177. Occurrence of Rett Syndrome in Boys

    Article • Journal of Child Neurology, January 2001, Decker, Inc.

    Dr Helen Leonard

  178. Medical aspects of school-aged children with Down syndrome

    Article • Developmental Medicine & Child Neurology, October 1999, Wiley

    Dr Helen Leonard

  179. Functional Skills in Self-Care, Mobility, and Communication in 211 School Aged Children with Down Syndrome in Western Australia

    Article • Pediatric Research, April 1999, Nature

    Dr Helen Leonard

  180. Metacarpophalangeal pattern profile and bone age in Rett syndrome: Further radiological clues to the diagnosis

    Article • American Journal of Medical Genetics, March 1999, Wiley

    Dr Helen Leonard

  181. Spinal Fusion Satisfaction Questionnaire

    Article • American Psychological Association (APA)

    Dr Helen Leonard