Clinical and biological progress over 50 years in Rett syndrome
In the 50 years since Andreas Rett first described the syndrome that came to bear his name,
and is now known to be caused by a mutation in the methyl-CpG-binding protein 2 (MECP2) …
and is now known to be caused by a mutation in the methyl-CpG-binding protein 2 (MECP2) …
A brief history of MECP2 duplication syndrome: 20-years of clinical understanding
D Ta, J Downs, G Baynam, A Wilson… - Orphanet Journal of …, 2022 - Springer
MECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder
caused by a duplication of the methyl-CpG-binding protein 2 (MECP2) gene—a gene in …
caused by a duplication of the methyl-CpG-binding protein 2 (MECP2) gene—a gene in …
Twenty years of surveillance in Rett syndrome: what does this tell us?
Background The clinical characteristics of children diagnosed with Rett syndrome are well
described. Survival and how these characteristics persist or change in adulthood are less …
described. Survival and how these characteristics persist or change in adulthood are less …
Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome
M Mangatt, K Wong, B Anderson, A Epstein… - Orphanet journal of rare …, 2016 - Springer
Background Initially described as an early onset seizure variant of Rett syndrome, the
CDKL5 disorder is now considered as an independent entity. However, little is currently …
CDKL5 disorder is now considered as an independent entity. However, little is currently …
Top caregiver concerns in Rett syndrome and related disorders: data from the US natural history study
Objective Recent advances in the understanding of neurodevelopmental disorders such as
Rett syndrome (RTT) have enabled the discovery of novel therapeutic approaches that …
Rett syndrome (RTT) have enabled the discovery of novel therapeutic approaches that …
Impacts of caring for a child with the CDKL5 disorder on parental wellbeing and family quality of life
Y Mori, J Downs, K Wong, B Anderson… - Orphanet journal of rare …, 2017 - Springer
Background Although research in this area remains sparse, raising a child with some
genetic disorders has been shown to adversely impact maternal health and family quality of …
genetic disorders has been shown to adversely impact maternal health and family quality of …
Linking MECP2 and pain sensitivity: The example of Rett syndrome
J Downs, SM Géranton, A Bebbington… - American journal of …, 2010 - Wiley Online Library
Recent animal studies suggest links between MeCP2 function and sensitivity to pain. This
study investigated the nature and prevalence of atypical pain responses in Rett syndrome …
study investigated the nature and prevalence of atypical pain responses in Rett syndrome …
Exploring quality of life in individuals with a severe developmental and epileptic encephalopathy, CDKL5 Deficiency Disorder
Abstract Background CDKL5 Deficiency Disorder (CDD) is a rare genetic disorder caused
by a mutation in the cyclin-dependent kinase-like 5 (CDKL5) gene. It is now considered to …
by a mutation in the cyclin-dependent kinase-like 5 (CDKL5) gene. It is now considered to …
Environmental enrichment intervention for Rett syndrome: an individually randomised stepped wedge trial
Background Rett syndrome is caused by a pathogenic mutation in the MECP2 gene with
major consequences for motor and cognitive development. One of the effects of impaired …
major consequences for motor and cognitive development. One of the effects of impaired …
Sleep disturbances in Rett syndrome: impact and management including use of sleep hygiene practices
Sleep disturbances are debilitating for individuals with Rett syndrome (RTT) and their
families yet the evidence base for management is poor. We investigated management …
families yet the evidence base for management is poor. We investigated management …