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The Engage Study: discovering and delighting in your baby - a pilot study

Andrew Desiree Gail Kandice Videos Whitehouse Watch and listen to Andrew Silva Alvares Varcin PhD MBBS, FRACP, MPH, PhD PhD M.Psych (Clinical), PhD

Rural Exposure and Future Intent of Australian Dermatology Trainees

Citation: Yap M, Weston S, McKinnon E, Sadler G. Rural Exposure and Future Intent of Australian Dermatology Trainees. Australas J Dermatol. 2025.

Factors influencing the attainment of major motor milestones in CDKL5 deficiency disorder

This study investigated the influence of factors at birth and in infancy on the likelihood of achieving major motor milestones in CDKL5 Deficiency Disorder (CDD). Data on 350 individuals with a pathogenic CDKL5 variant was sourced from the International CDKL5 Disorder Database.

The Association Between Obesity and COVID-19 Severity in Children Differed Between SARS-CoV-2 Variants: A Multicountry Hospital-based Observational Study

Obesity was a risk factor for severe COVID-19 in children during early outbreaks of ancestral SARS-CoV-2 and the Delta variant. However, the relationship between obesity and COVID-19 severity during the Omicron wave remains unclear.

Access to Oral Healthcare in Individuals With Rett Syndrome: A Qualitative Study of Parent Perspectives

Intellectual and developmental disabilities (IDD) are varied in their nature and presentation. Barriers to oral healthcare are reported in studies of general populations with IDD but these may not reflect the barriers experienced by individuals with rare disorders such as Rett syndrome.

Cerebral Palsy

A non-progressive motor disability due to damage of the developing brain, this is the most common physical disability in childhood. Affecting about one in 500 babies, it is frequently accompanied by other neurological impairments, such as intellectual or sensory.

The diagnostic odyssey to Rett syndrome: The experience of an Australian family

The diagnosis of a rare disorder is dependent on the clinician's particular knowledge and experience, and can be challenging when the presentation is variable.

Influences on the trajectory and subsequent outcomes in CDKL5 deficiency disorder

The study investigated the effect of seizure and medication burden at initial contact with the International CDKL5 Disorder Database on subsequent development and clinical severity and compared quality of life among those whose development progressed, remained stable, or regressed between baseline and follow-up.

Comparing Parental Well-Being and Its Determinants Across Three Different Genetic Disorders Causing Intellectual Disability

This cross-sectional study examined parental well-being in caregivers of children with one of three genetic disorders associated with intellectual disability.

Community participation for girls and women living with Rett syndrome

Participation for girls and women with Rett syndrome could be enhanced by stronger local community supports.