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Showing results for "autism"

Italian Version of QI-Disability for QoL Evaluation in Children and Adolescents with Intellectual Disability: Translation and Cross-Cultural Adaptation Process

Children and adolescents with Intellectual Disability experience a worse Quality-of-Life (QoL) relative to typically developing peers. Thus, QoL evaluation is important for identifying support needs and improving rehabilitation effectiveness. Nevertheless, currently in Italy there are not tools with this scope. This study aims to translate and cross-culturally adapt the Quality-of-Life Inventory-Disability into Italian.

The ORIGINS Project: A Cross-Sectional Analysis of the Nutrition Profile of Pregnant Women in a Longitudinal Birth Cohort

Pregnancy is an opportunistic time for dietary intake to influence future disease susceptibility in offspring later in life. The ORIGINS Project was established to identify the factors that contribute to 'a healthy start to life' through a focus supporting childhood health and preventing disease (including non-communicable diseases).

Patient-advocate-led global coalition adapting fit-for-purpose outcomes measures to assure meaningful inclusion of DEEs in clinical trials

Existing clinical tools that measure non-seizure outcomes lack the range and granularity needed to capture skills in developmental and epileptic encephalopathy (DEE)-affected individuals who also fall in the severe to profound range of intellectual disability. This effectively excludes those with severe impairments from clinical trials, impeding the ability of sponsors to evaluate disease-modifying therapies.

FDA Patient-Focused Drug Development Guidances: Considerations for Trial Readiness in Rare Developmental and Epileptic Encephalopathies

Developmental and epileptic encephalopathies (DEE) are rare, often monogenic neurodevelopmental conditions. Most affected individuals have refractory seizures. All have multiple severe impairments which can be as life-limiting as or more limiting than the seizures themselves. Mechanism- and gene-targeted therapies for these individually rare, genetic conditions hold hope for treatment, amelioration of disease expression, and even cure. 

Experience of primary caregivers in utilising an mHealth application for remote dental screening in preschool children

This study aimed to address the acceptance of mHealth applications for a dental screening app that facilitates patient information entry and captures dental photos remotely to assist in caries diagnosis in preschool children in Australia.

Australia’s top 10 rare disease research priorities: a priority setting partnership

The aim of this study was to identify and prioritise the ten most important unanswered themes in rare disease research in Australia by integrating perspectives of key stakeholders, including people living with rare disease, parents/carers, health professionals, and rare disease community advocates.

Iron Deficiency in Young Australian Children: A Hidden Health Crisis Demanding Urgent Action

Desiree Silva MBBS, FRACP, MPH, PhD Co-Director, ORIGINS desiree.silva@thekids.org.au Co-Head, The ORIGINS Project Professor Desiree Silva is

Overnight monitoring of sleep biomechanics: A scoping review

Body position and movement during sleep is assessed for both clinical and research purposes. A diverse array of both assessment tools and classification systems are used to capture and code sleep biomechanics data.

Evaluation of the Pregnancy to Parenthood program: A dyadic intervention for mothers with perinatal mental disorders and their infants

Dyadic interventions targeting maternal mental health and the mother-infant relationship in the perinatal period are critical due to the potential consequences of perinatal mental illness and relational disturbance for the mother, the infant, and their family. This paper describes the Pregnancy to Parenthood (P2P) model of care, a dyadic mother-infant community-based program designed to support vulnerable families in Western Australia in the context of an identified need to build workforce capacity.

The Feasibility of Personalized Endpoints in Assessing Treatment Outcomes for Rare Diseases: A Pilot Study of Goal Attainment Scaling in SCN2A-Associated

For individuals living with rare neurodevelopmental disorders, particularly those who are at the most severe end of the spectrum, standardized outcome measures may lack the sensitivity to capture small but meaningful changes.