We argue that population-based studies are critical to overcome the selection bias seen in many clinical samples and to identify true variability wit…
Perinatal characteristics, early childhood development and medical co-morbidities in MECP2 Duplication syndrome
The clinical understanding of the CDKL5 disorder remains limited, with most information being derived from small patient groups seen at individual ce…
disability; autism spectrum disorders; Down syndrome; Rett syndrome; CDKL5 disorder; MECP2 Duplication syndrome; ... internationally unique populatio…
Initial evaluation suggests that QI-Disability is a reliable and valid measure of quality of life across the spectrum of intellectual disability
Down syndrome or Rett syndrome in the family: Parental reflections on
A severity assessment was rapidly developed with input from multiple stakeholders. Refinement through ongoing validation is required for future clini…
recurrence risk in Rett syndrome? Background Rett syndrome is associated
View Snapshots Rett block
were first identified in 1999 as the major cause of Rett syndrome. Six years later micro-duplications involving ... syndrome which had been provided…