User profiles for "author:Helen Leonard"

Helen Leonard

Associate Professor, Centre for Child Health Research, University of Western Australia
Verified email at telethonkids.org.au
Cited by 21914

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 …

Rett syndrome in Australia: a review of the epidemiology

CL Laurvick, N De Klerk, C Bower… - 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 …

Clinical and biological progress over 50 years in Rett syndrome

H Leonard, S Cobb, J Downs - Nature Reviews Neurology, 2017 - nature.com
In the 50 years since Andreas Rett first described the syndrome that came to bear his name,
and is now known to be caused by a mutation in the methyl-CpG-binding protein 2 (MECP2) …

Rett syndrome: revised diagnostic criteria and nomenclature

JL Neul, WE Kaufmann, DG Glaze… - 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 …

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

LS Weaving, J Christodoulou, SL Williamson… - 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 …

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

D Bai, BHK Yip, GC Windham, A Sourander… - 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 …

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 …

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

JP Cheadle, H Gill, N Fleming, J Maynard… - 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

HO Atladottir, D Gyllenberg, A Langridge… - 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 …

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

S Sandin, D Schendel, P Magnusson, C Hultman… - 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 …