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Quantitative and qualitative insights into the experiences of children with Rett syndrome and their families

Early presentation of Rett syndrome, including regression and challenges for families seeking a diagnosis

Determinants of sleep disturbances in Rett syndrome: Novel findings in relation to genotype

Prevalence and determinants of sleep problems in Rett syndrome

How can clinical ethics guide the management of comorbidities in the child with Rett syndrome?

This paper reviews the disorder Rett syndrome and evidence for the management of scoliosis and poor growth within a clinical ethics framework

Clinical guidelines for management of bone health in rett syndrome based on expert consensus and available evidence

A clinically significant history of fracture in combination with low bone densitometry findings is necessary for a diagnosis of osteoporosis in Rett Syndrome

Patterns of depressive symptoms and social relating behaviors differ over time from other behavioral domains for young people with Down syndrome

People with intellectual disabilities are at a higher risk for experiencing behavioral, emotional, and psychiatric problems in comparison with the general...

Spinal fusion in girls with Rett syndrome: Post-operative recovery and family experiences

Rett syndrome is a severe neurodevelopmental disorder mainly affecting females and scoliosis is a common co-morbidity. Spinal fusion may be recommended if...

Prevalence, clinical investigation, and management of gallbladder disease in Rett syndrome

This study determined the prevalence of cholelithiasis and/or cholecystectomy in Rett syndrome, described gallbladder function in a clinical cohort, and...

The phenotype associated with a large deletion on MECP2

Multiplex ligation-dependent Probe Amplification (MLPA) has become available for the detection of a large deletion on the MECP2 gene.

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.

Measuring the Burden of Epilepsy Hospitalizations in CDKL5 Deficiency Disorder

Information 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.