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Devising a Missing Data Rule for a Quality of Life Questionnaire - A Simulation Study

The aim of this study was to devise an evidence-based missing data rule for the Quality of Life Inventory-Disability (QI-Disability) questionnaire specifying how many missing items are permissible for domain and total scores to be calculated using simple imputation.

Implementation of an Early Communication Intervention for Young Children with Cerebral Palsy Using Single-Subject Research Design

The implementation of an intervention protocol aimed at increasing vocal complexity in three pre-linguistic children with cerebral palsy (two males, starting age 15 months, and one female, starting age 16 months) was evaluated utilising a repeated ABA case series design. The study progressed until the children were 36 months of age. Weekly probes with trained and untrained items were administered across each of three intervention blocks.

Enabling successful life engagement in young people with ADHD: new components beyond adult models of recovery

To examine the lived experiences of young people successfully managing life with ADHD and investigate the applicability of adult models of Recovery to these individuals.

Factors influencing the attainment of major motor milestones in CDKL5 deficiency disorder

This study investigated the influence of factors at birth and in infancy on the likelihood of achieving major motor milestones in CDKL5 Deficiency Disorder (CDD). Data on 350 individuals with a pathogenic CDKL5 variant was sourced from the International CDKL5 Disorder Database.

A systematic review of the biological, social, and environmental determinants of intellectual disability in children and adolescents

This systematic review aimed to identify the most important social, environmental, biological, and/or genetic risk factors for intellectual disability.

Development of an International Database for a Rare Genetic Disorder: The MECP2 Duplication Database (MDBase)

The natural history of MECP2 duplication syndrome (MDS), a rare X-linked neurodevelopmental disorder with an estimated birth prevalence of 1/150,000 live births, is poorly understood due to a lack of clinical data collected for research. Such information is critical to the understanding of disease progression, therapeutic endpoints and outcome measures for clinical trials, as well as the development of therapies and orphan products.

Down syndrome or Rett syndrome in the family: Parental reflections on sibling experience

Siblings of children with intellectual disability have unique family experiences, varying by type of disability.

How Families Manage the Complex Medical Needs of Their Children with MECP2 Duplication Syndrome

MECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder resulting from the duplication of the methyl-CpG-binding protein 2 (MECP2) gene. The clinical features of MDS include severe intellectual disability, global developmental delay, seizures, recurrent respiratory infections, and gastrointestinal problems. The aim of this qualitative study was to explore how the parents of children with MDS manage their child's seizures, recurrent respiratory infections, and gastrointestinal symptoms, and the impact on them as parents.

Severe Congenital Heart Defects and Cerebral Palsy

To report the prevalence of cerebral palsy (CP) in children with severe congenital heart defects (sCHD) and the outcome/severity of the CP.

Kindy Moves: the feasibility of an intensive interdisciplinary programme on goal and motor outcomes for preschool-aged children with neurodisabilities requiring daily equipment and physical assistance

To determine the feasibility of an intensive interdisciplinary programme in improving goal and motor outcomes for preschool-aged children with non-progressive neurodisabilities. The primary hypothesis was that the intervention would be feasible.