User profiles for Helen Leonard

Helen Leonard

Associate Professor, Centre for Child Health Research, University of Western Australia
Verified email at telethonkids.org.au
Cited by 22159

Rett syndrome: revised diagnostic criteria and nomenclature

…, AJ Clarke, N Bahi‐Buisson, H Leonard… - Annals of …, 2010 - Wiley Online Library
Objective Rett syndrome (RTT) is a severe neurodevelopmental disease that affects
approximately 1 in 10,000 live female births and is often caused by mutations in Methyl‐CpG‐…

The epidemiology of mental retardation: challenges and opportunities in the new millennium

H Leonard, X Wen - Mental retardation and developmental …, 2002 - Wiley Online Library
There are a number of problems and challenges in relating the science of epidemiology to
mental retardation (MR). These relate to how MR is defined and classified and how these …

[PDF][PDF] Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation

…, H Lahooti, CJ Ellaway, B Bennetts, H Leonard… - The American Journal of …, 2004 - cell.com
Rett syndrome (RTT) is a severe neurodevelopmental disorder caused, in most classic cases,
by mutations in the X-linked methyl-CpG-binding protein 2 gene (MECP2). A large degree …

Association of genetic and environmental factors with autism in a 5-country cohort

…, E Glasson, B Mahjani, A Suominen, H Leonard… - JAMA …, 2019 - jamanetwork.com
Importance The origins and development of autism spectrum disorder (ASD) remain
unresolved. No individual-level study has provided estimates of additive genetic, maternal, and …

Intellectual disability co-occurring with schizophrenia and other psychiatric illness: population-based study

VA Morgan, H Leonard, J Bourke… - The British Journal of …, 2008 - cambridge.org
BackgroundThe epidemiology of intellectual disability co-occurring with schizophrenia and
other psychiatric illness is poorly understood. The separation of mental health from …

Rett syndrome in Australia: a review of the epidemiology

…, D Ravine, C Ellaway, S Williamson, H Leonard - The Journal of …, 2006 - Elsevier
OBJECTIVE: To examine the prevalence, cumulative incidence, and survival in an
Australian cohort with Rett syndrome (RTT). STUDY DESIGN: The Australian Rett Syndrome …

Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location

…, J Maynard, A Kerr, H Leonard… - Human molecular …, 2000 - academic.oup.com
Mutations in the methyl-CpG-binding protein gene MECP2 at Xq28 cause Rett syndrome (RTT),
an X-linked dominant neurodevelopmental disorder characterized by a period of …

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

…, S Sandin, SN Hansen, H Leonard… - European child & …, 2015 - Springer
The objective of this study is to compare the time trend of reported diagnoses of autism
spectrum disorder (ASD), hyperkinetic disorder, Tourette’s syndrome, and obsessive-compulsive …

[HTML][HTML] Autism risk associated with parental age and with increasing difference in age between the parents

…, K Carter, R Francis, E Parner, H Leonard… - Molecular …, 2016 - nature.com
Advancing paternal and maternal age have both been associated with risk for autism spectrum
disorders (ASD). However, the shape of the association remains unclear, and results on …

[HTML][HTML] The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy

…, S Psoni, X Bao, N De Klerk, H Leonard… - European Journal of …, 2013 - nature.com
The clinical understanding of the CDKL5 disorder remains limited, with most information
being derived from small patient groups seen at individual centres. This study uses a large …