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Updated: Jan 14, 2026

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Neurodevelopmental Progression and Functional Outcomes in a Child With Joubert Syndrome: A Case Study.

Tomás Ferrão1, Rita Alvelos1, Kátia Mauricio1

  • 1Department of Pediatrics, Unidade Local de Saúde da Região de Aveiro, Aveiro, PRT.

Cureus
|October 21, 2025
PubMed
Summary

Joubert syndrome (JS) is a rare neurodevelopmental disorder. This case highlights a milder JS phenotype with preserved learning, emphasizing MRI diagnosis and early therapy benefits.

Keywords:
developmental and behavioural pediatricsgenetic analysisjoubert syndrome (js)methylphenidate (mph)motor skillsneuro-rehabilitationpediatric brain mri

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