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Using ambulatory monitoring to investigate awake breathing irregularities in Rett syndrome in Australian population-based and Italian clinic samples

Helen Jenny Leonard Downs MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Head, Child Disability +61 419 956 946 08 6319 1763

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 characterized by seizures and motor and intellectual disabilities. No disease-modifying therapies are available, and treatments focus mainly on symptom management to improve quality of life.

Longitudinal Evaluation of the Stability of Hand Function in Rett Syndrome

We investigated the longitudinal stability of hand function in Rett syndrome and to analyze further the relationships between stability of hand function and genotype, age, and walking ability. Study design: Longitudinal video data of functional abilities of individuals with genetically confirmed Rett syndrome were collected by families of individuals registered with the Australian Rett Syndrome Database.

Oral parafunction and bruxism in Rett syndrome and associated factors: An observational study

To explore patterns of parafunction, and bruxism, and its relationships with genotype and snoring in individuals with Rett syndrome.

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

An increased prevalence of autism spectrum disorder (ASD) among children of immigrant backgrounds has been observed

“It Just Makes You Feel Horrible”: A Thematic Analysis of the Stigma Experiences of Youth with Anxiety and Depression

Experiencing stigma is associated with a range of negative outcomes for people with mental health disorders. However, little is understood about the contemporary stigma experiences of young people with anxiety and depression. This study aimed to describe these experiences using semi-structured qualitative interviews.

Well-being and Distress in University Students with ADHD Traits: the Mediating Roles of Self-Compassion and Emotion Regulation Difficulties

Tertiary education is particularly demanding for students with attention-deficit hyperactivity disorder (ADHD), who often struggle with emotion regulation and are at greater risk of internalising disorders compared to their peers. Self-compassion is a skill associated with positive mental health and adaptive emotion regulation that might support students in managing the emotional challenges of studying with ADHD.

Supporting Maternal and Child Mental Health Through Dietary Changes Focused on the Gut Microbiota

Growing evidence from preclinical studies, epidemiology, and randomized controlled trials supports a causal role for diet quality in mental disorder risk, and clinical psychiatric guidelines now place diet, along with other life-style behaviors, as foundational treatment targets for mood disorders.

Latent profiles of early developmental vulnerabilities in a New South Wales child population at age 5 years

Patterns of early childhood developmental vulnerabilities may provide useful indicators for particular mental disorder outcomes in later life

Driving and Diabetes

Getting a driver's license is an important milestone for a young adult in terms of gaining independence, including young people with diabetes.