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Showing results for "autism"
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.
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.
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.
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.
In girls and women with Rett syndrome, we assessed the accuracy of the StepWatch Activity Monitor™ and investigated relationships between daily step counts,...
Aim: To compare growth in individuals with cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder with population norms and to investigate the effect of gastrostomy on growth.
In this blog, research project co-ordinator Rebecca Kuzminski discusses anxiety related to uncertainty, why this is a particular challenge for many autistic children, and new research CliniKids is conducting to help parents support their child with managing uncertainty-related anxiety.
Sibling profiles, including sibling status (only-child or sibling) and sibling characteristics (sibling size, birth order, and sex), can impact on lived experiences and social interactions, and operate as protective or risk factors for a wide range of health and well-being indicators and outcomes. Using population-based data linkage to disability-specific databases, sibling profiles were compared between families of children with and without neurodevelopmental conditions.
There is accumulating evidence for a link between maternal stress during pregnancy and later behavioural and emotional problems in children.
Language is one of the most remarkable developmental accomplishments of early childhood. Language connects us with others and is an essential tool for literacy, education, employment and lifelong learning.