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Showing results for "autism"

Research

Autonomic breathing abnormalities in Rett syndrome: caregiver perspectives in an international database study

Our aims were to characterize the abnormal breathing patterns and abdominal bloating, investigate the distribution of these by age and mutation type and examine their impact and management from a caregiver perspective.

Research

To Feel Belonged: The Voices of Children and Youth with Disabilities on the Meaning of Wellbeing

The aim of this paper was to describe the meaning of wellbeing for children and youth with disabilities from their perspective.

Research

Updating the profile of C-terminal MECP2 deletions in Rett syndrome

This study aimed to compare the phenotype of Rett syndrome cases with C-terminal deletions to that of cases with different MECP2 mutations

Research

Diabetes Stigma Predicts Higher HbA1c Levels in Australian Adolescents With Type 1 Diabetes

Adolescents with Type 1 diabetes (T1D) often need to undertake self-management tasks in public or disclose their diagnosis to others. Therefore, they may be subjected to negative reactions from the public, known as enacted stigma.

Research

Re-analysis of the association between perinatal androgens and postnatal head circumference growth

This paper is a correction of an earlier report that identified a link between exposure to high levels of testosterone during pregnancy and reduced head...

Research

Use of equipment and respite services and caregiver health among Australian families living with Rett syndrome

This study assessed factors that could influence equipment and respite services use among Australian families caring for a girl/woman with Rett syndrome and...

Research

Free testosterone levels in umbilical cord blood predict infant head circumference in girls

Fetal androgens influence fetal growth as well as postnatal neurocognitive ability.

News & Events

Celebrating our STEM team

To celebrate International Day of Women and Girls in Science, we asked our research team to share why they became researchers, how autism became their focus and for their top tip for girls interested in pursuing a STEM career.

News & Events

Congratulations to the Embrace 2023 Research Award winners

Embrace 2023 Research Award winners Zoe Waters and Pulan Bai.

Research

Burden of illness in Rett syndrome: initial evaluation of a disorder-specific caregiver survey

Rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder associated with multiple neurologic impairments. Previous studies have shown challenges to the quality of life of individuals with RTT and their caregivers. However, instruments applied to quantify disease burden have not adequately captured the impact of these impairments on affected individuals and their families. Consequently, an international collaboration of stakeholders aimed at evaluating Burden of Illness in RTT was organized.