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MECP2-Associated Rett Syndrome Without Developmental Regression-A Case Series.

Alexandra Morgan^1,2, Alice Pham¹, Sydni Beeley¹

¹Department of Pediatrics, Wake Forest University School of Medicine, Winston-Salem, NC, USA.

Journal of Child Neurology

|March 12, 2026

Summary

This summary is machine-generated.

Genetic testing revealed MECP2-associated Rett syndrome (RS) in four girls with global developmental delay. These cases show atypical presentations of RS, emphasizing broad genomic sequencing for developmental disorders.

Keywords:

genetics neurodevelopment seizures

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Area of Science:

Genetics
Pediatrics
Neurology

Background:

Neurodevelopmental disorders require continuous clinical phenotype expansion.
Advancements in genetic testing are crucial for elucidating new clinical criteria.
Global developmental delay is a common referral reason in specialty clinics.

Purpose of the Study:

To report a case series of pediatric patients with global developmental delay.
To highlight unexpected genetic diagnoses of MECP2-associated Rett syndrome (RS).
To demonstrate the broadening clinical presentation of RS.

Main Methods:

Retrospective case series analysis.
Review of clinical data for four female pediatric patients.
Analysis of genetic testing results for MECP2 mutations.

Main Results:

Four female pediatric patients diagnosed with MECP2-associated Rett syndrome (RS).
None of the patients met the established clinical diagnostic criteria for RS prior to genetic testing.
Patients presented with global developmental delay without typical development or regression.

Conclusions:

Broad genomic sequencing is important for patients with global developmental delay.
Atypical and mild presentations of Rett syndrome are increasingly recognized.
Understanding of RS clinical spectrum evolves with genetic testing standardization.