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Assisted reproductive technology (ART) pregnancies are at greater risk of birth defects than non-ART pregnancies. Teratogenic medication exposure is a potential cause of birth defects that has not been compared between ART and non-ART pregnancies.
The clinical, research and advocacy communities for Rett syndrome are striving to achieve clinical trial readiness, including having fit-for-purpose clinical outcome assessments. This study aimed to (1) describe psychometric properties of clinical outcome assessment for Rett syndrome and (2) identify what is needed to ensure that fit-for-purpose clinical outcome assessments are available for clinical trials.
The primary objective was to determine whether a behaviour change intervention delivered to hospital staff would (1) improve the proportion of Aboriginal and/or Torres Strait Islander (Aboriginal) babies being registered and (2) reduce hospital admissions and emergency presentations for babies <6 months old. The secondary objective was an observational analysis to determine factors that might influence the proportion of registered Aboriginal births in Western Australia.
Despite growing evidence that parental work–family conflict (WFC) affects children’s emotional well-being, little is known about the multiple pathways underlying such effects. This study examines the association between parental WFC and children’s emotional well-being and the potential mediating role of parenting behaviors in this process.
CDKL5 deficiency disorder is a rare and severe developmental and epileptic encephalopathy that has profound effects on communication. It is essential that communication be measured accurately for upcoming gene therapy trials. The Communication Inventory Disability-Observer Reported was developed from a framework of communication derived from parent/caregiver interview data in consultation with disability and communication experts, and after reviewing concepts in existing measures.
Children with neurodevelopmental disorders often experience difficulties in acquiring and executing movement skills. Although the motor profiles of neurodivergent children frequently overlap, rigid conceptual distinctions between diagnostic labels have been imposed by traditional categorical approaches to taxonomy. An alternative transdiagnostic approach is proposed to better represent the similarities between presentations.
Aboriginal and Torres Strait Islander children continue to be removed at high rates from their families by child protection services, placing them at elevated risk of adverse long-term life outcomes. Cultural connection in out-of-home care is essential for mitigating the impacts of trauma from removal, emphasizing the importance of ensuring that cultural planning is rigorously undertaken. This article explores the provision of cultural plans in an era where out-of-home care services are outsourced by government, but where government holds onto the responsibility for developing cultural plans for children in care.
Social media allows users to connect with others’ experiences and points of view, with TikTok being the fastest-growing platform worldwide. Highly viewed videos related to neurodiversity on TikTok have an increasing role in understanding and acceptance of neurodivergent individuals.
CDKL5 deficiency disorder (CDD) is a rare developmental and epileptic encephalopathy (DEE) associated with multiple impairments and comorbidities. Outcome measures for disease-modifying clinical trials for DEEs should measurably capture a spectrum of caregiver priorities and be externally validated.
To evaluate the psychometric properties of the Quality of Life Inventory -Disability (QI-Disability) for individuals with Dravet syndrome (DS) or Lennox-Gastaut syndrome (LGS), two rare developmental and epileptic encephalopathy conditions.