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Kinder- und Jugendheilkunde


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

10/2016 Rett syndrome is a rare neurodevelopmental disorder caused by a mutation in the MECP2 gene. It is associated with severe functional impairments and medical comorbidities such as scoliosis and poor growth. The population-based and longitudinal Australian Rett Syndrome Database was established in 1993 and has supported investigations of the natural history of Rett syndrome and effectiveness of treatments, as well as a suite of qualitative studies to identify deeper meanings. [...]

On a remarkable syndrome of cerebral atrophy associated with hyperammonaemia in childhood

10/2016 Regular monitoring and examination of more than 6000 brain-injured children over many years has more recently enabled us to identify a condition that shows strikingly consistent clinical, neurological and psychological symptoms among affected children, and defies classification as any known disorder discussed so far. [...]

Progress in Rett Syndrome: from discovery to clinical trials

10/2016 Fifty years ago, Andreas Rett described a disorder in 22 females featuring prominent regression of fine motor and communication skills, cognitive impairment, stereotypic movements, periodic breathing, and gait abnormalities. [...]

50 years of Rett syndrome, 1966–2016

10/2016 From parents to clinicians to scientists, and for parents, clinicians, and scientist

Exactly 50 years ago, Andreas Rett published his clinical observations on girls with a never before described phenotype—later to be named after him—in this journal, the _Wiener Medizinische Wochenschrift_. [...]

New insights in Rett syndrome using pathway analysis for transcriptomics data

10/2016 The analysis of transcriptomics data is able to give an overview of cellular processes, but requires sophisticated bioinformatics tools and methods to identify the changes. Pathway analysis software, like PathVisio, captures the information about biological pathways from databases and brings this together with the experimental data to enable visualization and understanding of the underlying [...]

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