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Associations between genotype, phenotype and behaviours measured by the Rett syndrome behaviour questionnaire in Rett syndrome

Rett syndrome (RTT) is a rare neurodevelopmental disorder with developmental impairments, comorbidities, and abnormal behaviours such as hand stereotypies and emotional features. The Rett Syndrome Behaviour Questionnaire (RSBQ) was developed to describe the behavioural and emotional features of RTT.

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. 

Behavioural and neuropsychological outcomes in children exposed in utero to maternal labour epidural analgesia

Recent studies report conflicting results regarding the relationship between labour epidural analgesia (LEA) in mothers and neurodevelopmental disorders in their offspring. We evaluated behavioural and neuropsychological test scores in children of mothers who used LEA.

Psychometric evaluation of clinician- and caregiver-reported clinical severity assessments for individuals with CDKL5 deficiency disorder

The CDKL5 Clinical Severity Assessment is a comprehensive, content-validated measurement tool capturing the diverse challenges of cyclin-dependent kinase-like 5 deficiency disorder, a genetically caused developmental epileptic encephalopathy. The CCSA is divided into clinician-reported and caregiver-reported assessments. The aim of this study was to evaluate the factor structure of these measures through confirmatory factor analysis and evaluate their validity and reliability.

"What about us?"- the drawbacks of current bruxism assessment criteria in evaluating vulnerable groups

Jenny Helen Kingsley Downs Leonard Wong BApplSci (physio) MSc PhD MBChB MPH MBBS, MPH, MMedStat Head, Child Disability Principal Research Fellow

How can we reach long-lasting inclusive participation for all? A vision for the future

In 2022, an international conference was held focusing on 'participation'. We shared current evidence, identified knowledge gaps and worked together to understand what new knowledge and community and practice changes were needed. This brief communication is a summary of the conference delegates' discussions.  

Psychometric Properties of the EQ-5D-Y-5L for Children With Intellectual Disability

The EQ-5D-Y-5L is a generic preference-based measure of health-related quality of life for children. This study aimed to describe the distributional properties, test-retest reliability, and convergent validity of the EQ-5D-Y-5L in children with intellectual disability (ID). 

Can RESPiratory hospital Admissions in children with cerebral palsy be reduced? A feasibility randomised Controlled Trial pilot study protocol (RESP-ACT)

The most common cause of morbidity and mortality in children with severe cerebral palsy (CP) is respiratory disease. BREATHE-CP (Better REspiratory and Airway Treatment and HEalth in Cerebral Palsy) is a multidisciplinary research team who have conducted research on the risk factors associated with CP respiratory disease, a systematic review on management and a Delphi study on the development of a consensus for the prevention and management of respiratory disease in CP.

Cases of trisomy 21 and trisomy 18 among historic and prehistoric individuals discovered from ancient DNA

Aneuploidies, and in particular, trisomies represent the most common genetic aberrations observed in human genetics today. To explore the presence of trisomies in historic and prehistoric populations we screen nearly 10,000 ancient human individuals for the presence of three copies of any of the target autosomes. We find clear genetic evidence for six cases of trisomy 21 (Down syndrome) and one case of trisomy 18 (Edwards syndrome), and all cases are present in infant or perinatal burials.

A Multisite Randomized Controlled Trial of Hand Arm Bimanual Intensive Training Including Lower Extremity for Children with Bilateral Cerebral Palsy

To test the efficacy of Hand Arm Bimanual Intensive Therapy Including Lower Extremity (HABIT-ILE) to improve gross motor function, manual ability, goal performance, walking endurance, mobility, and self-care for children with bilateral cerebral palsy.