Fragile X Syndrome across the lifespan with a focus on Genetics, Neurodevelopmental, Behavioral and Psychiatric Associations: A new systematic review

Read the original article by Ann C. Genovese and Merlin G. Butler

A recently published systematic review describing the genetic foundations of FXS and the identification of associated developmental, behavioral, and psychiatric conditions over the lifespan of the individual is now available to read online. Researched by Ann C. Genovese and Merlin G. Butler, the study reviews clinical features, therapeutic interventions (including investigational treatments), and current research updates.

The study comprehensively captures FXS in multiple dimensions including genetics, health features, neurodevelopmental features, behavioural and psychiatric features, and treatment and interventions. The paper not only provides in-depth insights on common challenges faced by people living with FXS, but also discusses their strengths and unique capabilities. The paper finds that early detection of FXS with methylation specific-quantitative melt analysis in newborns has immediate applications in FXS diagnostics, and can be used in nationwide newborn screening. The authors believe that early detection of FXS results in early interventions, allowing for intensive developmental therapies and multidisciplinary management that may guarantee long-term outcomes regarding the improvement of the quality of life of people living with FXS. 

The paper calls for more data on neurodevelopmental, behavioral, and psychiatric comorbidities in individuals with FXS, especially for those living with a dual diagnosis of FXS and autism. More research is needed in genomic technology, bioinformatics, computational predictions, and human genomic databases. The availability of such research could greatly assist in understanding genetic determinants, molecular mechanisms, and biological processes underlying FXS.