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The objective of this study is to compare the time trend of reported diagnoses of autism spectrum disorder, hyperkinetic disorder, Tourette's syndrome, and...
The purposes of this study were to explore what makes for a "good life" from the perspective of young adults with Down syndrome and to identify the barriers...
The aim of this study is to review research on the pre-existing characteristics which differentiate mothers of children with ASD and/or ID of unknown cause...
iCARE provides a unique, unprecedented resource in autism research that will significantly enhance the ability to detect environmental and genetic...
This paper describes dental and oral cavity admissions and associated factors in children under two years of age using total-population databases.
Children with Developmental Coordination Disorder (DCD) often have difficulties running.
Helen Mohammed Leonard Junaid MBChB MPH BDS, MDS, MFDS RCPS (Glasg.), DDPH RCS (Eng) Principal Research Fellow Honorary Team Member +61 419 956 946
Helen Leonard MBChB MPH Principal Research Fellow +61 419 956 946 helen.leonard@thekids.org.au Principal Research Fellow Areas of research expertise
MECP2 duplication syndrome (MDS) is an ultrarare, X-linked neurodevelopmental disorder that is poorly understood in terms of its natural history and phenotypic variability. There is limited information on how individuals with MDS acquire, retain or lose fundamental functional skills (gross motor, purposeful hand function and communication) - that of which this study aimed to better characterise in the largest case series to date.
Information on the hospital service use among individuals with CDKL5 Deficiency Disorder, an ultrarare developmental epileptic encephalopathy, is limited, evidence of which could assist with service planning. Therefore, using baseline and longitudinal data on 379 genetically verified individuals in the International CDKL5 Disorder Database, we aimed to investigate rates of seizure-related and other hospitalizations and associated length of stay in this cohort.