Author

E. Bartolini

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Case report Open access Jul 2026

Case Report: Early-onset psychosis as a sentinel manifestation of 3q29 deletion syndrome in an adolescent with neurodevelopmental disorders

Early-onset psychotic symptoms in adolescents with neurodevelopmental comorbidities may represent a critical clinical indicator of underlying pathogenic copy number variants, including 3q29 deletion syndrome, even in the absence of highly recognizable dysmorphic features.

E. Bartolini, Federica Iannotta, W. Vidal et al. · Frontiers in child and adole... · 0 citations

Case report Aug 2026

Beyond Rett syndrome: a case series expanding the neurological spectrum associated with pathogenic MECP2 variants

The findings expand the evidence that pathogenic MECP2 variants can produce neurological phenotypes distinct from classic RTT, including mild neurodevelopmental impairment without regression, and predominantly cerebellar or spastic-ataxic manifestations associated with limited cognitive involvement.

Camilla Meossi, Alessandro De Falco, Deianira Rinaldi et al. · Journal of Neurology · 0 citations