Search
Research
Unpacking the complex nature of the autism epidemicThis paper discusses changes in diagnostic criteria, decreasing age at diagnosis, improved case ascertainment, diagnostic substitution, and social influences.
Research
The common BDNF polymorphism may be a modifier of disease severity in Rett syndromeRett syndrome (RTT) is caused by mutations in the transcriptional repressor methyl CpG-binding protein 2 (MECP2).
Research
Siblings of children with disabilities: challenges and opportunitiesSiblings of children with disabilities: challenges and opportunities
Research
Investigating genotype-phenotype relationships in Rett syndrome using an international data setThis study uses data from a large international database, InterRett, to examine genotype-phenotype relationships and compares these with previous findings in...
Research
Parents’ Work–Family Conflict and Children’s Emotional Well-Being: The Mediating Role of Parenting BehaviorsDespite 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.
Research
Beyond Seizures as an Outcome Measure: A Global Severity Scoring System for CDKL5 Deficiency DisorderCDKL5 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.
Research
Outcomes following a behaviour change intervention within hospitals to improve birth registrations and hospital utilisation for Aboriginal and/or Torres Strait Islander infantsThe 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.
Research
Content Validation of the Communication Inventory Disability–Observer Reported CID-ORCDKL5 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.
Research
Cause-Specific Secular Trends and Prevention Measures of Post-Neonatally Acquired Cerebral Palsy in Victoria and Western Australia 1975–2014: A Population-Based Observational StudyTo describe the timing and causes of post-neonatally acquired cerebral palsy (PNN-CP) and map the implementation of relevant preventive strategies against cause-specific temporal trends in prevalence.
Research
International workshop: what is needed to ensure outcome measures for Rett syndrome are fit-for-purpose for clinical trials? June 7, 2023, Nashville, USAThe 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.