Publications by authors named "Helen Leonard"

100Publications

Assessment of a Clinical Trial Metric for Rett Syndrome: Critical Analysis of the Rett Syndrome Behaviour Questionnaire.

Pediatr Neurol 2020 Oct 3;111. Epub 2020 Jun 3.

Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia; Anavex Life Sciences Corp, New York, New York. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2020.04.020DOI Listing
October 2020

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

Dev Med Child Neurol 2020 Aug 30. Epub 2020 Aug 30.

Telethon Kids Institute, The University of Western Australia, Perth, Western Australia, Australia.

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http://dx.doi.org/10.1111/dmcn.14657DOI Listing
August 2020

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

J Med Genet 2020 Aug 25. Epub 2020 Aug 25.

Telethon Kids Institute, The University of Western Australia, Nedlands, Western Australia, Australia.

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http://dx.doi.org/10.1136/jmedgenet-2020-107120DOI Listing
August 2020

Reliability of the Quality of Life Inventory-Disability Measure in Children with Intellectual Disability.

J Dev Behav Pediatr 2020 Sep;41(7):534-539

Telethon Kids Institute, The University of Western Australia, Perth, Western Australia, Australia.

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http://dx.doi.org/10.1097/DBP.0000000000000815DOI Listing
September 2020

Gastrostomy and quality of life in children with intellectual disability: a qualitative study.

Arch Dis Child 2020 Oct 8;105(10):969-974. Epub 2020 Apr 8.

Telethon Kids Institute, Centre for Child Health Research, The University of Western Australia, Perth, Nedlands, Western Australia, Australia

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http://dx.doi.org/10.1136/archdischild-2020-318796DOI Listing
October 2020

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

Am J Med Genet A 2020 05 8;182(5):1217-1222. Epub 2020 Feb 8.

Telethon Kids Institute, The University of Western Australia, Perth, Western Australia, Australia.

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http://dx.doi.org/10.1002/ajmg.a.61504DOI Listing
May 2020

The contributions of fetal growth restriction and gestational age to developmental outcomes at 12 months of age: A cohort study.

Early Hum Dev 2020 Mar 13;142:104951. Epub 2020 Jan 13.

School of Physiotherapy and Exercise Science, Curtin University, Perth, Western Australia, Australia; Telethon Kids Institute, The University of Western Australia, Perth, Western Australia, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.earlhumdev.2020.104951DOI Listing
March 2020

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

J Am Acad Child Adolesc Psychiatry 2020 Sep 13;59(9):1036-1048. Epub 2020 Jan 13.

Telethon Kids Institute, The University of Western Australia, Perth, Australia; School of Physiotherapy and Exercise Science, Curtin University, Perth, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.jaac.2020.01.006DOI Listing
September 2020

Risk of Hospitalizations Following Gastrostomy in Children with Intellectual Disability.

J Pediatr 2020 02 4;217:131-138.e10. Epub 2019 Dec 4.

Telethon Kids Institute, Center for Child Health Research, The University of Western Australia, Perth, Australia; School of Physiotherapy and Exercise Science, Curtin University, Perth, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2019.10.020DOI Listing
February 2020

Pregnancy and birth outcomes of mothers with intellectual disability and their infants: Advocacy needed to improve well-being.

Disabil Health J 2020 Apr 19;13(2):100871. Epub 2019 Nov 19.

Telethon Kids Institute, University of Western Australia, Perth, Western Australia, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.dhjo.2019.100871DOI Listing
April 2020

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

Intellect Dev Disabil 2019 10;57(5):439-462

Robert Balogh, Ontario Tech University, Oshawa, Ontario, Canada; Helen Leonard and Jenny Bourke, Telethon Kids Institute, The University of Western Australia, Perth; Kate Brameld, Curtin University, Perth, Western Australia; Jenny Downs, Michele Hansen, and Emma Glasson, Telethon Kids Institute, The University of Western Australia, Perth; Elizabeth Lin, Centre for Addiction and Mental Health, Toronto, Ontario, Canada; Meghann Lloyd, Ontario Tech University, Oshawa, Ontario, Canada; Yona Lunsky, Centre for Addiction and Mental Health, Toronto, Ontario, Canada; Melissa O'Donnell, Telethon Kids Institute, The University of Western Australia, Perth; Shahin Shooshtari, University of Manitoba, Winnipeg, Manitoba, Canada; Kingsley Wong, Telethon Kids Institute, The University of Western Australia, Perth; and Gloria Krahn, Oregon State University, Corvallis.

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http://dx.doi.org/10.1352/1934-9556-57.5.439DOI Listing
October 2019

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

Dev Med Child Neurol 2020 04 9;62(4):470-476. Epub 2019 Sep 9.

Telethon Kids Institute, The University of Western Australia, Perth, WA, Australia.

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http://dx.doi.org/10.1111/dmcn.14348DOI Listing
April 2020

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

J Pediatr 2019 12 4;215:90-97.e1. Epub 2019 Sep 4.

Telethon Kids Institute, The University of Western Australia, Perth, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2019.07.056DOI Listing
December 2019

Children with complex health needs and personal health budgets.

Authors:
Helen Leonard

Arch Dis Child 2020 03 11;105(3):211-213. Epub 2019 Jul 11.

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http://dx.doi.org/10.1136/archdischild-2019-317092DOI Listing
March 2020

Content validation of the Quality of Life Inventory-Disability.

Child Care Health Dev 2019 09 21;45(5):654-659. Epub 2019 Jun 21.

Telethon Kids Institute, The University of Western Australia, Perth, Australia.

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http://dx.doi.org/10.1111/cch.12691DOI Listing
September 2019

Severity Assessment in CDKL5 Deficiency Disorder.

Pediatr Neurol 2019 08 27;97:38-42. Epub 2019 Mar 27.

Children's Hospital Colorado and University of Colorado School of Medicine Aurora, Colorado; Department of Pediatrics, Aurora, Colorado; Department of Pharmacology, Aurora, Colorado; Department of Neurology, Aurora, Colorado; Department of Otolaryngology, Aurora, Colorado. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2019.03.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6659999PMC
August 2019

Diagnosis of Autism Spectrum Disorder According to Maternal-Race Ethnicity and Country of Birth: A Register-Based Study.

J Autism Dev Disord 2019 Sep;49(9):3611-3624

Telethon Kids Institute, The University of Western Australia, PO Box 855, West Perth, WA, 6872, Australia.

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http://dx.doi.org/10.1007/s10803-019-04068-zDOI Listing
September 2019

Using directed-content analysis to identify a framework for understanding quality of life in adults with Rett syndrome.

Disabil Rehabil 2019 May 10:1-8. Epub 2019 May 10.

a School of Physiotherapy and Exercise Science, Curtin University , Perth , Australia.

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http://dx.doi.org/10.1080/09638288.2019.1610801DOI Listing
May 2019

Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review.

Pediatr Neurol 2019 08 23;97:18-25. Epub 2019 Feb 23.

Children's Hospital Colorado, University of Colorado, School of Medicine, Aurora, Colorado; Department of Pediatrics, University of Colorado, School of Medicine, Aurora, Colorado; Department of Pharmacology, University of Colorado, School of Medicine, Aurora, Colorado; Department of Neurology, University of Colorado, School of Medicine, Aurora, Colorado; Department of Otolaryngology, University of Colorado, School of Medicine, Aurora, Colorado.

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http://dx.doi.org/10.1016/j.pediatrneurol.2019.02.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7120929PMC
August 2019

Birth seasonality and risk of autism spectrum disorder.

Eur J Epidemiol 2019 Aug 20;34(8):785-792. Epub 2019 Mar 20.

Department of Psychiatry and Department of Preventive Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

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http://link.springer.com/10.1007/s10654-019-00506-5
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http://dx.doi.org/10.1007/s10654-019-00506-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6602987PMC
August 2019

Cannabis for refractory epilepsy in children: A review focusing on CDKL5 Deficiency Disorder.

Epilepsy Res 2019 03 5;151:31-39. Epub 2019 Feb 5.

Telethon Kids Institute, University of Western Australia, Perth, WA, Australia(2). Electronic address:

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http://dx.doi.org/10.1016/j.eplepsyres.2019.02.001DOI Listing
March 2019

The incidence, prevalence and clinical features of MECP2 duplication syndrome in Australian children.

J Paediatr Child Health 2019 Nov 12;55(11):1315-1322. Epub 2019 Feb 12.

Telethon Kids Institute, University of Western Australia, Perth, Western Australia, Australia.

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http://dx.doi.org/10.1111/jpc.14399DOI Listing
November 2019

New personalised care plan for the NHS.

BMJ 2019 01 31;364:l470. Epub 2019 Jan 31.

NHS England Strategic Co-production Group, London, UK.

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http://dx.doi.org/10.1136/bmj.l470DOI Listing
January 2019

A framework for understanding quality of life domains in individuals with the CDKL5 deficiency disorder.

Am J Med Genet A 2019 02 18;179(2):249-256. Epub 2018 Dec 18.

Telethon Kids Institute, The University of Western Australia, Perth, WA, Australia.

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http://dx.doi.org/10.1002/ajmg.a.61012DOI Listing
February 2019

Epidemiology of gastrostomy insertion for children and adolescents with intellectual disability.

Eur J Pediatr 2019 Mar 15;178(3):351-361. Epub 2018 Dec 15.

Telethon Kids Institute, Centre for Child Health Research, The University of Western Australia, PO Box 855, West Perth, Western Australia, 6872, Australia.

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http://link.springer.com/10.1007/s00431-018-3304-x
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http://dx.doi.org/10.1007/s00431-018-3304-xDOI Listing
March 2019

Psychometric properties of the Quality of Life Inventory-Disability (QI-Disability) measure.

Qual Life Res 2019 Mar 20;28(3):783-794. Epub 2018 Nov 20.

Department of Neurodevelopment and Disability, Royal Children's Hospital, Melbourne, VIC, Australia.

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http://dx.doi.org/10.1007/s11136-018-2057-3DOI Listing
March 2019

Risk of Developmental Disorders in Children of Immigrant Mothers: A Population-Based Data Linkage Evaluation.

J Pediatr 2019 01 4;204:275-284.e3. Epub 2018 Oct 4.

Telethon Kids Institute, The University of Western Australia, Perth, Western Australia, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2018.08.047DOI Listing
January 2019

Apgar score and risk of autism.

Eur J Epidemiol 2019 Feb 5;34(2):105-114. Epub 2018 Oct 5.

Department of Psychiatry and Seaver Autism Center, Icahn School of Medicine at Mount Sinai, 1 Gustave L Levy PLC, New York, NY, 10029, USA.

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http://link.springer.com/10.1007/s10654-018-0445-1
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http://dx.doi.org/10.1007/s10654-018-0445-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6373297PMC
February 2019

Longitudinal effects of caregiving on parental well-being: the example of Rett syndrome, a severe neurological disorder.

Eur Child Adolesc Psychiatry 2019 Apr 27;28(4):505-520. Epub 2018 Aug 27.

Telethon Kids Institute, 100 Roberts Road, Subiaco, WA, 6008, Australia.

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http://dx.doi.org/10.1007/s00787-018-1214-0DOI Listing
April 2019

Vagus nerve stimulation for the treatment of refractory epilepsy in the CDKL5 Deficiency Disorder.

Epilepsy Res 2018 10 23;146:36-40. Epub 2018 Jul 23.

Telethon Kids Institute, The University of Western Australia, PO Box 855, West Perth, WA 6872, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.eplepsyres.2018.07.013DOI Listing
October 2018

Impact of Gastrostomy Placement on Nutritional Status, Physical Health, and Parental Well-Being of Females with Rett Syndrome: A Longitudinal Study of an Australian Population.

J Pediatr 2018 09 23;200:188-195.e1. Epub 2018 Jun 23.

Telethon Kids Institute, The University of Western Australia, Perth, Western Australia, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2018.04.050DOI Listing
September 2018

Evolving Trends of Gastrostomy Insertion Within a Pediatric Population.

J Pediatr Gastroenterol Nutr 2018 11;67(5):e89-e94

Telethon Kids Institute, Centre for Child Health Research, The University of Western Australia.

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http://dx.doi.org/10.1097/MPG.0000000000002042DOI Listing
November 2018

Sleep disturbances in Rett syndrome: Impact and management including use of sleep hygiene practices.

Am J Med Genet A 2018 07 28;176(7):1569-1577. Epub 2018 Apr 28.

Telethon Kids Institute, The University of Western Australia, West Perth, Australia.

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http://dx.doi.org/10.1002/ajmg.a.38829DOI Listing
July 2018

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

BMJ Paediatr Open 2017 5;1(1):e000172. Epub 2017 Oct 5.

Australian Paediatric Surveillance Unit, Kids Research Institute, Westmead, New South Wales, Australia.

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http://dx.doi.org/10.1136/bmjpo-2017-000172DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5862166PMC
October 2017

Respiratory morbidity in Rett syndrome: an observational study.

Dev Med Child Neurol 2018 09 14;60(9):951-957. Epub 2018 Mar 14.

Telethon Kids Institute, The University of Western Australia, Perth, WA, Australia.

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http://dx.doi.org/10.1111/dmcn.13726DOI Listing
September 2018

Use of health services in the last year of life and cause of death in people with intellectual disability: a retrospective matched cohort study.

BMJ Open 2018 02 25;8(2):e020268. Epub 2018 Feb 25.

Centre for Population Health Research, Faculty of Health Sciences, Curtin University, Perth, Western Australia, Australia.

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http://dx.doi.org/10.1136/bmjopen-2017-020268DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5855242PMC
February 2018

Validation of intellectual disability coding through hospital morbidity records using an intellectual disability population-based database in Western Australia.

BMJ Open 2018 01 23;8(1):e019113. Epub 2018 Jan 23.

Department of Epidemiology, Telethon Kids Institute, University of Western Australia, Perth, Australia.

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http://dx.doi.org/10.1136/bmjopen-2017-019113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5786126PMC
January 2018

Parent-reported health-related quality of life of children with Down syndrome: a descriptive study.

Dev Med Child Neurol 2018 04 23;60(4):402-408. Epub 2018 Jan 23.

Telethon Kids Institute, The University of Western Australia, Subiaco, WA, Australia.

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http://dx.doi.org/10.1111/dmcn.13670DOI Listing
April 2018

Environmental enrichment intervention for Rett syndrome: an individually randomised stepped wedge trial.

Orphanet J Rare Dis 2018 01 10;13(1). Epub 2018 Jan 10.

Telethon Kids Institute, The University of Western Australia, PO Box 855, West Perth, WA, 6872, Australia.

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http://dx.doi.org/10.1186/s13023-017-0752-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5764021PMC
January 2018

variants: Improving our understanding of a rare neurologic disorder.

Neurol Genet 2017 Dec 15;3(6):e200. Epub 2017 Dec 15.

Institute of Neuroscience & Psychology (R.D.H., S.R.C.), University of Glasgow, UK, Drs. Hector and Cobb are currently with the Patrick Wild Centre and Centre for Discovery Brain Science, University of Edinburgh, UK; Group Development and Disease (V.M.K., F.H.), Max Planck Institute for Molecular Genetics, Berlin, Germany; Telethon Kids Institute (H.L., J.D.), The University of Western Australia, Perth, Western Australia; School of Physiotherapy and Exercise Science (J.D.), Curtin University, Perth, Australia; Institute of Medical Genetics (A.C.), School of Medicine, Cardiff University, Cardiff, Wales, UK; Departments of Pediatrics, Pharmacology, Neurology and Otolaryngology (T.A.B.), University of Colorado School of Medicine, Aurora, CO; Paedriatic Neuroscience (J.A., M.P.), Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Spain; Hospital Sant Joan de Déu Barcelona (J.A.), Esplugues de Llobregat, Spain; CIBERER (J.A.), Barcelona, Spain; Neuropediatrics (M.P.), Fundació Sant Joan de Déu, Esplugues de Llobregat, Spain; and School of Life Sciences (M.E.S.B.), College of Medical, Veterinary and Life Sciences, University of Glasgow, UK.

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http://dx.doi.org/10.1212/NXG.0000000000000200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5732004PMC
December 2017

Comparing Parental Well-Being and Its Determinants Across Three Different Genetic Disorders Causing Intellectual Disability.

J Autism Dev Disord 2018 05;48(5):1651-1665

Telethon Kids Institute, 100 Roberts Road, Subiaco, WA, 6008, Australia.

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http://link.springer.com/10.1007/s10803-017-3420-x
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http://dx.doi.org/10.1007/s10803-017-3420-xDOI Listing
May 2018

Risk of Mortality into Adulthood According to Gestational Age at Birth.

J Pediatr 2017 11;190:185-191.e1

School of Paediatrics and Child Health, University of Western Australia, Perth, Australia; Telethon Kids Institute, Perth, Australia.

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http://dx.doi.org/10.1016/j.jpeds.2017.07.051DOI Listing
November 2017

What effect does regular exercise have on oxidative stress in people with Down syndrome? A systematic review with meta-analyses.

J Sci Med Sport 2018 Jun 19;21(6):596-603. Epub 2017 Oct 19.

Telethon Kids Institute, Australia; University of Western Australia, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.jsams.2017.10.015DOI Listing
June 2018

Sleep, if you can.

Authors:
Helen Leonard

Arch Dis Child 2018 02 31;103(2):119-120. Epub 2017 Oct 31.

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http://dx.doi.org/10.1136/archdischild-2017-313868DOI Listing
February 2018

Parent-observed thematic data on quality of life in children with autism spectrum disorder.

Autism 2019 01 26;23(1):71-80. Epub 2017 Oct 26.

Telethon Kids Institute, The University of Western Australia, Australia.

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http://dx.doi.org/10.1177/1362361317722764DOI Listing
January 2019

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

Disabil Rehabil 2019 01 2;41(2):133-141. Epub 2017 Oct 2.

a Department of Health Sciences, Faculty of Medicine , Lund University , Lund , Sweden.

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https://www.tandfonline.com/doi/full/10.1080/09638288.2017.1
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http://dx.doi.org/10.1080/09638288.2017.1381181DOI Listing
January 2019

Measurement of Sedentary Behaviors or "Downtime" in Rett Syndrome.

J Child Neurol 2017 Oct;32(12):1009-1013

2 School of Physiotherapy and Exercise Science, Faculty of Health Sciences, Curtin University, Perth, Western Australia, Australia.

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http://dx.doi.org/10.1177/0883073817728861DOI Listing
October 2017

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

J Pediatr 2017 09 10;188:232-239.e2. Epub 2017 Jul 10.

Telethon Kids Institute, University of Western Australia, Subiaco, Western Australia, Australia.

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http://dx.doi.org/10.1016/j.jpeds.2017.06.008DOI Listing
September 2017

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

Epilepsia 2017 08 12;58(8):1415-1422. Epub 2017 Jun 12.

Telethon Kids Institute, University of Western Australia, West Perth, Western Australia, Australia.

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http://dx.doi.org/10.1111/epi.13813DOI Listing
August 2017

Maternal Race-Ethnicity, Immigrant Status, Country of Birth, and the Odds of a Child With Autism.

Child Neurol Open 2017 Jan-Dec;4:2329048X16688125. Epub 2017 Jan 12.

Centers for Disease Control and Prevention, Atlanta, GA, USA.

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http://dx.doi.org/10.1177/2329048X16688125DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5417283PMC
January 2017

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

J Neurodev Disord 2017 28;9:15. Epub 2017 Apr 28.

Telethon Kids Institute, The University of Western Australia, PO Box 855, West Perth, WA 6872 Australia.

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http://dx.doi.org/10.1186/s11689-017-9196-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5410057PMC
April 2017

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

Orphanet J Rare Dis 2017 04 11;12(1):68. Epub 2017 Apr 11.

Australian Paediatric Surveillance Unit, Kids Research Institute, Westmead, NSW, 2145, Australia.

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http://dx.doi.org/10.1186/s13023-017-0622-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5387276PMC
April 2017

Maltreatment Risk Among Children With Disabilities.

Pediatrics 2017 Apr 6;139(4). Epub 2017 Mar 6.

Telethon Kids Institute, University of Western Australia, Perth, Western Australia.

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http://pediatrics.aappublications.org/lookup/doi/10.1542/ped
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http://dx.doi.org/10.1542/peds.2016-1817DOI Listing
April 2017

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

Dev Med Child Neurol 2017 06 6;59(6):605-611. Epub 2017 Feb 6.

School of Physiotherapy and Exercise Science, Curtin University, Perth, WA, Australia.

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http://dx.doi.org/10.1111/dmcn.13398DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5413421PMC
June 2017

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

Disabil Rehabil 2018 04 23;40(7):813-819. Epub 2017 Jan 23.

a Telethon Kids Institute , The University of Western Australia , Subiaco , Australia.

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http://dx.doi.org/10.1080/09638288.2016.1277392DOI Listing
April 2018

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

Orphanet J Rare Dis 2017 01 19;12(1):16. Epub 2017 Jan 19.

Telethon Kids Institute, The University of Western Australia, 100 Roberts Road, Subiaco, 6008, Perth, Western Australia.

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http://dx.doi.org/10.1186/s13023-016-0563-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5248472PMC
January 2017

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

J Dev Behav Pediatr 2017 Feb/Mar;38(2):161-168

*Telethon Kids Institute, The University of Western Australia, Perth, Western Australia, Australia; †The Jack Brockhoff Child Health and Wellbeing Program, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, Australia; ‡Department of Developmental Medicine, Royal Children's Hospital, Melbourne, Victoria, Australia; §School of Physiotherapy and Exercise Science, Curtin University, Perth, Western Australia, Australia.

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http://dx.doi.org/10.1097/DBP.0000000000000385DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5285501PMC
December 2017

Clinical and biological progress over 50 years in Rett syndrome.

Nat Rev Neurol 2017 Jan 9;13(1):37-51. Epub 2016 Dec 9.

Telethon Kids Institute, 100 Roberts Road, Subiaco, Perth, Western Australia 6008, Australia.

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http://dx.doi.org/10.1038/nrneurol.2016.186DOI Listing
January 2017

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

J Speech Lang Hear Res 2016 12;59(6):1373-1383

Telethon Kids Institute, The University of Australia, Perth, Western Australia.

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http://dx.doi.org/10.1044/2015_JSLHR-L-14-0185DOI Listing
December 2016

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

Birth Defects Res A Clin Mol Teratol 2016 Dec 1;106(12):1016-1031. Epub 2016 Nov 1.

Telethon Kids Institute, University of Western Australia, Western Australia, Australia.

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http://dx.doi.org/10.1002/bdra.23572DOI Listing
December 2016

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

Neurology 2016 Nov 21;87(21):2206-2213. Epub 2016 Oct 21.

From Telethon Kids Institute (S.F., K.W., N.d.K., J.D., H.L.) and the School of Paediatrics and Child Health (D.F.), The University of Western Australia, Perth; Muir Maxwell Epilepsy Centre (R.C.), Child Life and Health, The University of Edinburgh, UK; Department of Neurology and Rehabilitation (S.W.), Princess Margaret Hospital, Perth; Western Sydney Genetics Program (R.K.), The Children's Hospital at Westmead, Sydney; Department of Paediatrics (J.C.), University of Melbourne; Murdoch Childrens Research Institute (J.C.), The Royal Children's Hospital, Melbourne; and School of Physiotherapy and Exercise Science (J.D.), Curtin University, Perth, Australia.

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http://dx.doi.org/10.1212/WNL.0000000000003352DOI Listing
November 2016

Building the repertoire of measures of walking in Rett syndrome.

Disabil Rehabil 2017 09 24;39(19):1926-1931. Epub 2016 Aug 24.

a Department of Health Sciences, Faculty of Medicine , Lund University , Lund, Sweden.

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http://dx.doi.org/10.1080/09638288.2016.1212280DOI Listing
September 2017

Functional abilities in children and adults with the CDKL5 disorder.

Am J Med Genet A 2016 11 16;170(11):2860-2869. Epub 2016 Aug 16.

Telethon Kids Institute, The University of Western Australia, Perth, Western Australia, Australia.

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http://dx.doi.org/10.1002/ajmg.a.37851DOI Listing
November 2016

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

Wien Med Wochenschr 2016 Sep 4;166(11-12):338-45. Epub 2016 Aug 4.

Telethon Kids Institute, The University of Western Australia, PO Box 855, WA 6872, West Perth, Australia.

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http://dx.doi.org/10.1007/s10354-016-0494-6DOI Listing
September 2016

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

J Autism Dev Disord 2016 Sep;46(9):3106-14

Telethon Kids Institute, University of Western Australia, Perth, Australia.

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http://dx.doi.org/10.1007/s10803-016-2847-9DOI Listing
September 2016

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

Am J Med Genet A 2016 09 3;170(9):2292-300. Epub 2016 Jun 3.

Telethon Kids Institute, The University of Western Australia, Perth, Australia.

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http://dx.doi.org/10.1002/ajmg.a.37784DOI Listing
September 2016

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

J Paediatr Child Health 2016 Aug 31;52(8):809-13. Epub 2016 May 31.

Telethon Kids Institute, The University of Western Australia, Perth, Western Australia, Australia.

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http://dx.doi.org/10.1111/jpc.13241DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4990489PMC
August 2016

Population-Based Prevalence of Intellectual Disability and Autism Spectrum Disorders in Western Australia: A Comparison With Previous Estimates.

Medicine (Baltimore) 2016 May;95(21):e3737

From the Telethon Kids Institute, University of Western Australia (JB, NDK, HL), and Disability Services Commission, Perth, Western Australia, Australia (TS).

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http://dx.doi.org/10.1097/MD.0000000000003737DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4902360PMC
May 2016

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

Eur Child Adolesc Psychiatry 2016 Dec 11;25(12):1369-1381. Epub 2016 May 11.

Telethon Kids Institute, University of Western Australia, Perth, WA, Australia.

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http://dx.doi.org/10.1007/s00787-016-0853-2DOI Listing
December 2016

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

Orphanet J Rare Dis 2016 Apr 14;11:39. Epub 2016 Apr 14.

Telethon Kids Institute, The University of Western Australia, Perth, WA, Australia.

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http://dx.doi.org/10.1186/s13023-016-0418-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4832563PMC
April 2016

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.

Lancet Infect Dis 2016 08 1;16(8):952-61. Epub 2016 Apr 1.

Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, VIC, Australia; Department of Paediatrics, University of Melbourne, VIC, Australia; Department of Paediatrics, Monash University, VIC, Australia; Department of Infection and Immunology, Monash Children's Hospital, VIC, Australia. Electronic address:

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http://dx.doi.org/10.1016/S1473-3099(16)00150-XDOI Listing
August 2016

Validating the Rett Syndrome Gross Motor Scale.

PLoS One 2016 22;11(1):e0147555. Epub 2016 Jan 22.

Telethon Kids Institute, The University of Western Australia, Perth, Australia.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0147555PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4723034PMC
July 2016

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

Am J Med Genet A 2016 Mar 21;170(3):645-53. Epub 2015 Dec 21.

Telethon Kids Institute, The University of Western Australia, Perth, Western Australia, Australia.

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http://dx.doi.org/10.1002/ajmg.a.37500DOI Listing
March 2016

The Natural History of Scoliosis in Females With Rett Syndrome.

Spine (Phila Pa 1976) 2016 May;41(10):856-63

*Telethon Kids Institute, The University of Western Australia, Perth, WA, Australia; School of Physiotherapy and Exercise Science, Curtin University, Perth, WA, Australia †Department of Orthopaedics, Royal Children's Hospital, Melbourne, VIC, Australia ‡Telethon Kids Institute, The University of Western Australia, Perth, WA, Australia §Disciplines of Genetic Medicine and Paediatrics and Child Health, The University of Sydney, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW, Australia ¶Discipline of Paediatrics and Child Health, The University of Sydney, The Children's Hospital at Westmead, Sydney, NSW, Australia; The Sydney Children's Hospitals Network (Westmead), Sydney, NSW, Australia ||Department of Radiology, Princess Margaret Hospital for Children, Perth, WA, Australia **Paediatric Spine Research Group, Queensland University of Technology and Mater Health Services, Brisbane, QLD, Australia ††Department of Surgery, University of Queensland, Brisbane, QLD, Australia ‡‡Department of Orthopaedics, The Children's Hospital at Westmead, Sydney, NSW, Australia §§Discipline of Orthopaedics and Trauma, University of Adelaide, Adelaide, SA, Australia; Department of Orthopaedic Surgery, Women's and Children's Hospital, Adelaide, SA, Australia.

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http://dx.doi.org/10.1097/BRS.0000000000001399DOI Listing
May 2016

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

Dev Med Child Neurol 2016 06 11;58(6):632-8. Epub 2015 Dec 11.

Telethon Kids Institute, The University of Western Australia, Perth, WA, Australia.

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http://dx.doi.org/10.1111/dmcn.12984DOI Listing
June 2016

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

J Pediatr 2016 Feb 2;169:214-20.e1. Epub 2015 Dec 2.

Telethon Kids Institute, The University of Western Australia, West Perth, Western Australia, Australia.

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http://dx.doi.org/10.1016/j.jpeds.2015.10.083DOI Listing
February 2016

Health care utilization and costs for children and adults with duchenne muscular dystrophy.

Muscle Nerve 2016 06 9;53(6):877-84. Epub 2016 May 9.

Harry Perkins Institute of Medical Research, The University of Western Australia, Nedlands, Western Australia, Australia.

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http://dx.doi.org/10.1002/mus.24965DOI Listing
June 2016

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

J Autism Dev Disord 2016 Mar;46(3):1103-9

Telethon Kids Institute, University of Western Australia, Perth, Australia.

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http://dx.doi.org/10.1007/s10803-015-2629-9DOI Listing
March 2016

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

J Autism Dev Disord 2016 Feb;46(2):523-33

Telethon Kids Institute, University of Western Australia, Perth, Australia.

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http://dx.doi.org/10.1007/s10803-015-2594-3DOI Listing
February 2016

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

J Epidemiol Community Health 2015 Dec 16;69(12):1175-83. Epub 2015 Jul 16.

Telethon Kids Institute, University of Western Australia, Perth, Western Australia, Australia.

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http://dx.doi.org/10.1136/jech-2014-205240DOI Listing
December 2015