GENETIC Disorders
Technological improvements in the genetic diagnosis of rett syndrome spectrum disorders
We revise the evolution of the diagnostic process of RTT spectrum disorders in the past decades, and we discuss the effectiveness of state-of-the-art genetic testing options, such as clinical exome sequencing and whole exome sequencing. Moreover, we introduce recent technological advancements that will very soon contribute to the increase in diagnostic yield in patients with RTT spectrum disorders.
The newborn screening programme revisited: an expert opinion on the challenges of rett syndromE
We revisit the Generation Study (GS) and discuss RTT from the perspective of these four criteria. We provide insight into how data could be collected during the presymptomatic phase, which could facilitate early diagnosis and improve our understanding of the prodromal stage of RTT.