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Showing results for "preterm birth lungs"
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.
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.
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).
Our findings suggest that some opportunities do exist for clinicians to help optimise parental well-being
This review provides the first comprehensive overview of the potential role for cannabis based preparations in the treatment of CDKL5 Deficiency Disorder
This study aimed to identify the quality of life domains important for individuals with CDKL5 deficiency disorder
Our study suggests that vagus nerve stimulation is a generally safe and effective adjunct treatment for CDKL5-associated epilepsy
There remains uncertainty about the effect of exercise on oxidative stress in people with Down syndrome
To describe health-related quality of life of Australian children and adolescents with Down syndrome and compare it with norm-referenced data.
Providing new insights into the interpretation of genetic variants in a rare neurologi disorder, in the contexts of population sequencing data.