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Rett syndrome (RTT) is a rare neurodevelopmental disorder mainly affecting females and is caused by a mutation in the MECP2 gene. Recent research identified the domains of quality of life (QOL) important for children with RTT but there has been no investigation of domains important for adults. This qualitative study explored QOL in adults with RTT and compared domains with those previously identified for children.
Early intensification with postinduction myeloid-type chemotherapy courses did not significantly improve outcome for infant acute lymphoblastic leukemia
This study aimed to validate measures of sedentary time in individuals with Rett syndrome.
Perspectives of parents are integral to the assessment of communication abilities and inform communication interventions for girls and women with Rett Syndrome
This study describes, from the perspective of parents, how females with Rett syndrome communicate in everyday life and the barriers and facilitators to...
Through evidence review and the consensus of an expert panel, we developed recommendations for the clinical management of gastroesophageal reflux disease,...
We developed recommendations for the clinical management of poor growth and weight gain in Rett syndrome through evidence review and the consensus of an...
The aim of this study was to identify characteristics of epilepsy in Rett syndrome (RTT), and relationships between epilepsy and genotype.
Our investigation used the infrastructure of InterRett, established in 2002 with dual aims of encour- aging international collaboration and ascertaining the...
We argue that population-based studies are critical to overcome the selection bias seen in many clinical samples and to identify true variability within a...