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Modelling quality of life in children with intellectual disability using regression trees

To identify factors associated with quality of life (QoL) in children with intellectual disability. We aimed to identify patterns of association not observable in previous hypothesis-driven regression modelling using the same data set from a cross-sectional observational study.

Longitudinal bone mineral content and density in Rett syndrome and their contributing factors

Bone mass and density are low in females with Rett syndrome.

Twenty years of surveillance in Rett syndrome: what does this tell us?

This study aimed to describe overall survival and adult health in those with Rett syndrome.

Data Linkage: Canadian and Australian Perspectives on a Valuable Methodology for Intellectual and Developmental Disability Research

Building data linkage capabilities, and how linked databases can be used to identify persons with IDD and used for population-based research

Medical Comorbidities in MECP2 Duplication Syndrome: Results from the International MECP2 Duplication Database

Since the discovery of MECP2 duplication syndrome (MDS) in 1999, efforts to characterise this disorder have been limited by a lack of large datasets, with small case series often favouring the reporting of certain conditions over others. This study is the largest to date, featuring 134 males and 20 females, ascertained from the international MECP2 Duplication Database (MDBase).

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.

Caregiver Perspective of Benefits and Side Effects of Anti-Seizure Medications in CDKL5 Deficiency Disorder from an International Database

CDKL5 deficiency disorder presents as a challenging condition with early-onset refractory seizures, severe developmental delays, and a range of other neurological symptoms. Our study aimed to explore the benefits and side effects of anti-seizure medications in managing seizures among individuals with CDKL5 deficiency disorder, drawing on data from the International CDKL5 Disorder Database.  

Functional skills in MECP2 duplication syndrome: developmental dynamics and regression

MECP2 duplication syndrome (MDS) is an ultrarare, X-linked neurodevelopmental disorder that is poorly understood in terms of its natural history and phenotypic variability. There is limited information on how individuals with MDS acquire, retain or lose fundamental functional skills (gross motor, purposeful hand function and communication) - that of which this study aimed to better characterise in the largest case series to date.

Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome

There were differences in the presentation of clinical features occurring in the CDKL5 disorder and in Rett syndrome.

Surgical fusion of early onset severe scoliosis increases survival in Rett syndrome: A cohort study

We investigated the impact of spinal fusion on survival and risk of severe lower respiratory tract infection in Rett syndrome.