Regression in Rett syndrome: Developmental pathways to its onset.

Area of Science:

• Neuroscience
• Genetics
• Developmental Pediatrics

Background:

• Rett syndrome (RTT) is an X-linked genetic disorder primarily affecting females.
• Clinical diagnosis relies on core and supportive criteria, with behavioral regression being essential.
• Early identification of RTT is crucial for timely intervention and support.

Purpose of the Study:

• To explore atypical neurofunctions and potential behavioral biomarkers preceding regression in RTT.
• To identify specific patterns in motor, speech-language, and socio-communicative development.
• To enhance early detection of Rett syndrome through novel neurofunctional markers.

Main Methods:

• Review of existing literature on Rett syndrome.
• Analysis of atypical patterns in motor development, including hand movements and stereotypies.
• Examination of speech-language and socio-communicative developmental traits and regression patterns.

Main Results:

• Identified specific atypical behavioral patterns in motor and communication domains (e.g., inspiratory vocalisations).
• Described two distinct patterns of regression: failure to achieve milestones and deterioration of achieved milestones.
• Highlighted the potential for early behavioral markers to indicate future regression.

Conclusions:

• Atypical neurofunctions and behavioral patterns show promise as early indicators of RTT.
• Further research is needed to define reliable neurofunctional markers for early RTT detection.
• Progress is being made towards identifying biomarkers for earlier diagnosis and intervention in Rett syndrome.