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Abstract Details

Rett syndrome: A more Heterogeneous group than previously thought?
Child Neurology and Developmental Neurology
P8 - Poster Session 8 (8:00 AM-9:00 AM)
5-003
The purpose of this study was to investigate the clinical phenotypes and perform genomic investigations in a population of females diagnosed with Rett syndrome (RTT) the last three decades.In this way we wanted to compare genotype and phenotype and look for clinical differences.

Rett syndrome (RTT) is a neurodevelopmental disorder mainly caused by mutations in MECP2. The last decade more than hundred other genes are reported in individuals with a RTT or RTT like phenotype. The diagnostic criteria of RTT are clinical; a mutation in MECP2 is neither diagnostic nor necessary, and a mutation in another gene does not exclude RTT. Here we attempted to correlate genotype and phenotype to see if there were significant clinical differences.
Available females with RTT in Norway were invited to the study. Parents were interviewed, the girl/woman with RTT examined and medical records reviewed. All diagnoses were revisited according to the latest diagnostic criteria and genomic investigations were performed in individuals without an identified mutation. Participants were categorized according to diagnosis and genotypes. Individuals with and without mutations in MECP2 were compared. 

91 individuals were included; 72 had classic RTT, 12 atypical RTT and seven did not fulfill the diagnostic criteria. Mutations in MECP2were found in 77 individuals. In addition, mutations in SMC1A, SYNGAP1, SCN1A, CDKL5, FOXG1and Chromosome 13q were found. Comparison of individuals with RTT with and without MECP2mutations revealed significant differences in early development, loss of hand use and language, intense eye gaze and the presence of early onset epilepsy.

The differences in clinical characteristics in RTT with and without MECP2 mutations indicate that the current diagnostic criteria might include individuals with other disorders into the RTT spectrum. 
Authors/Disclosures
Ola H. Skjeldal, MD (Ullevaal University Hospital)
PRESENTER 		No disclosure on file
No disclosure on file