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Updating the profile of C-terminal MECP2 deletions in Rett syndromeThis study aimed to compare the phenotype of Rett syndrome cases with C-terminal deletions to that of cases with different MECP2 mutations
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To Feel Belonged: The Voices of Children and Youth with Disabilities on the Meaning of WellbeingThe aim of this paper was to describe the meaning of wellbeing for children and youth with disabilities from their perspective.
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Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation familiesEpilepsy and mental retardation limited to females (EFMR) is an intriguing X-linked disorder affecting heterozygous females and sparing hemizygous males.
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Rett Syndrome Behaviour Questionnaire: Variability of Scores and Related FactorsRett syndrome (RTT) is a severe neurodevelopmental disorder affecting predominantly females and associated with variants in the MECP2 gene. Recent success in clinical trials have resulted in an expanded use of the Rett Syndrome Behaviour Questionnaire (RSBQ) for clinical and research purposes.
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Hospitalizations Following Complex Hip Surgery in Children with Intellectual Disability: A Self-Controlled Case Series AnalysisTo evaluate the associations between complex hip surgery and subsequent hospitalizations in children with intellectual disability, including a subset of children with cerebral palsy.
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Measuring the Burden of Epilepsy Hospitalizations in CDKL5 Deficiency DisorderInformation on the hospital service use among individuals with CDKL5 Deficiency Disorder, an ultrarare developmental epileptic encephalopathy, is limited, evidence of which could assist with service planning. Therefore, using baseline and longitudinal data on 379 genetically verified individuals in the International CDKL5 Disorder Database, we aimed to investigate rates of seizure-related and other hospitalizations and associated length of stay in this cohort.
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Associations between genotype, phenotype and behaviours measured by the Rett syndrome behaviour questionnaire in Rett syndromeRett 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.
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Burden of illness in Rett syndrome: initial evaluation of a disorder-specific caregiver surveyRett syndrome (RTT) is a severe X-linked neurodevelopmental disorder associated with multiple neurologic impairments. Previous studies have shown challenges to the quality of life of individuals with RTT and their caregivers. However, instruments applied to quantify disease burden have not adequately captured the impact of these impairments on affected individuals and their families. Consequently, an international collaboration of stakeholders aimed at evaluating Burden of Illness in RTT was organized.
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Parental work schedules and hours from a cross-national perspective: a welfare regime analysis on 29 countriesTechnological advances have transformed when and for how long individuals work, a process associated with increasing polarization and precarity. Using the European Working Conditions Survey (2005-2015), we examined parental work schedules and hours across welfare regimes covering 29 European countries.
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Investigating the impact of developmental coordination difficulties across home, school, and community settings: Findings from the Australian Impact for DCD surveyTo evaluate the participation difficulties experienced by children with developmental coordination disorder in home, school, and community environments.