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

These cases, both without seizures but with apparent behavioral symptomatology, together question whether seizures are mandatory in this disorder

Utilising Behavioural and Sensory Profiles and Associated Perinatal Factors to Identify Meaningful Subgroups in Autism Spectrum Disorder

The heterogeneity of autism spectrum disorder clinically and aetiologically hinders intervention matching and prediction of outcomes. This study inve…

Sleep Disordered Breathing and Recurrent Tonsillitis Are Associated With Polymicrobial Bacterial Biofilm Infections Suggesting a Role for Anti-Biofilm Therapies

The underlying pathogenesis of pediatric obstructive sleep disordered breathing (SDB) and recurrent tonsillitis (RT) are poorly understood but need t…

Self-harm: Prevalence estimates from the second Australian Child and Adolescent Survey of Mental Health and Wellbeing

The demonstrated higher risks in young people for continued harm or possible death support the need for ongoing initiatives to reduce self-harm

It takes a village: Influencing policy and practice to prevent alcohol use in pregnancy and promote better outcomes for individuals living with Fetal Alcohol Spectrum Disorder

Fetal Alcohol Spectrum Disorder is a neurodevelopmental disorder caused by exposure to alcohol in utero. It has pervasive, lifelong impacts and is re…

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

This study aimed to identify the quality of life domains important for individuals with CDKL5 deficiency disorder

Exploring offending characteristics of young people with foetal alcohol spectrum disorder in Western Australia

Neurodevelopmental impairments resulting from Foetal Alcohol Spectrum Disorder (FASD) can increase the likelihood of justice system involvement. This…

The development, content and response process validation of a caregiver-reported severity measure for CDKL5 deficiency disorder

CDKL5 Deficiency Disorder (CDD) is a severe X-linked developmental and epileptic encephalopathy. Existing developmental outcome measures have floor e…

Professor Helen Leonard

Principal Research Fellow

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

Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is an ultrarare genetic condition causing developmental epileptic encephalopathy cha…