Abstract Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is a
developmental encephalopathy caused by pathogenic variants in the gene CDKL5. This …

Increases in the life expectancy of people with Intellectual Disability have followed similar
trends to those found in the general population. With the exception of people with severe …

Rett syndrome (RTT) is a severe neurological disorder caused by mutations in the gene
encoding methyl-CpG-binding protein 2 (MeCP2). Almost two decades of research into RTT …

Rett syndrome (RTT) is a neurological disorder caused by mutations in the X-linked gene
methyl-CpG-binding protein 2 (MECP2), a ubiquitously expressed transcriptional regulator …

Background Rett syndrome (RTT), a neurodevelopmental disorder that primarily affects girls,
is characterised by a period of apparently normal development until 6–18 months of age …

Objective: To determine if a relationship exists between the clinical features of Rett
syndrome, an X-linked dominant neurodevelopmental disorder, and specific mutations in …

We conducted a linked database cohort study of infants born between 1990 and 2002 in
Nova Scotia, Canada. Diagnoses of autism were identified from administrative databases …

Objective To determine safety, tolerability, and pharmacokinetics of trofinetide and evaluate
its efficacy in female children/adolescents with Rett syndrome (RTT), a debilitating …

Rett syndrome (RTT) is an X‐linked progressive neurodevelopmental disorder that primarily
affects females. Mutations in the MECP2 gene have been attributed as the major genetic …

Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the X‐linked
gene MECP2. Girls with RTT show dramatic changes in brain function, but relatively few …