Rett syndrome in Ireland: a demographic study

Area of Science:

• Neuroscience
• Genetics

Background:

• Rett syndrome (RTT) is a rare neurodevelopmental disorder caused by MECP2 gene mutations, primarily affecting girls worldwide.
• Limited data exists on the Irish RTT population, hindering comprehensive characterization and management.
• The Rett Syndrome Association of Ireland (RSAI) collaborated to gather data on Irish individuals with RTT.

Purpose of the Study:

• To characterize the demographic and clinical presentation of individuals with Rett syndrome in Ireland.
• To identify unique features of the Irish RTT population compared to international cohorts.
• To highlight the importance of genetic information for RTT diagnosis and research.

Main Methods:

• A questionnaire was developed and distributed to families of individuals with RTT in Ireland.
• Data collected included demographics, genetics, familial history, clinical features, and regression patterns.
• Twenty-five families participated, providing insights into the Irish RTT cohort.

Main Results:

• Irish individuals with RTT show comparable features to global populations but with notable differences.
• A better response to anti-epileptic drugs and fewer skeletal deformities were observed in the Irish cohort.
• Seizures, involuntary movements, and regression were more frequently reported in Irish individuals, alongside limited genetic information for diagnosis.

Conclusions:

• This is the first study to characterize the RTT population in Ireland, despite a limited sample size.
• Findings suggest unique clinical aspects within the Irish RTT cohort.
• Swift access to genetic testing is crucial for accurate phenotyping and increased international visibility of Irish RTT patients.