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Journal of Pediatric Neurology 2023; 21(01): 008-014
DOI: 10.1055/s-0042-1759539
Review Article

Age-Related Neurodevelopmental Features in Children with Joubert Syndrome

Authors

  • Anna Scuderi

    1   Unit of Child Neurology and Psychiatry, Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi,” University of Messina, Messina, Italy

  • Adriana Prato

    1   Unit of Child Neurology and Psychiatry, Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi,” University of Messina, Messina, Italy

  • Daniela Dicanio

    1   Unit of Child Neurology and Psychiatry, Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi,” University of Messina, Messina, Italy

  • Giulia Spoto

    1   Unit of Child Neurology and Psychiatry, Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi,” University of Messina, Messina, Italy

  • Vincenzo Salpietro

    2   Department of Pediatrics, University of L'Aquila, L'Aquila, Italy

  • Giorgia Ceravolo

    3   Unit of Pediatric Emergency, Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi,” University of Messina, Messina, Italy

  • Francesca Granata

    4   Department of Biomedical Sciences and Morphological and Functional, University of Messina, Messina, Italy

  • Giovanni Farello

    5   Department of Life, Health and Environmental Sciences, Pediatric Clinic, Coppito (AQ), Italy

  • Giulia Iapadre

    2   Department of Pediatrics, University of L'Aquila, L'Aquila, Italy

  • Luca Zagaroli

    2   Department of Pediatrics, University of L'Aquila, L'Aquila, Italy

  • Giuliana Nanni

    2   Department of Pediatrics, University of L'Aquila, L'Aquila, Italy

  • Ida Ceravolo

    6   Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy

  • Erica Pironti

    7   Department of Woman-Child, Unit of Child Neurology and Psychiatry, Ospedali Riuniti, University of Foggia, Foggia, Italy

  • Greta Amore

    1   Unit of Child Neurology and Psychiatry, Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi,” University of Messina, Messina, Italy

  • Gabriella Di Rosa

    1   Unit of Child Neurology and Psychiatry, Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi,” University of Messina, Messina, Italy
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Abstract

Joubert syndrome (JS) is a rare inherited disorder of central nervous system with neonatal/infantile onset, mainly affecting cerebellum and brainstem, and clinically characterized by agenesis or dysgenesis of the cerebellar vermis with accompanying brainstem malformations. More than 20 disease-causing genes have been associated with JS but a clear genotype–phenotype correlation has not been assessed yet. Diagnosis is usually confirmed by detection of the JS neuroradiological hallmark, the molar tooth sign. Patients with JS typically present with neurological manifestations, moreover, a heterogeneous spectrum of multisystemic anomalies may be observed. Signs and symptoms onset varies according to the age range and clinical diagnosis might become complicated. Moreover, specific neurodevelopmental disorders can be associated with JS such as autism spectrum disorders, attention deficit with hyperactivity, and a wide range of behavioral disturbances. Here, we examined the main neurological and neurodevelopmental features of JS according to an age-dependent mode of presentation. Furthermore, differential diagnosis with other neurological syndromes was closely reviewed.

Keywords

neurodevelopment - age-related onset - Joubert syndrome

Authors' Contributions

Conceptualization: A.S., G.G.; Investigation: A.P., D.D.; Resources: G.S.; Data curation: V.S., F.G., E.P.; Writing-original draft preparation: G.F., G.I.; Writing review and editing: L.Z., G.N., I.C.; Supervision: G.A., L.Z.


All authors have read and agreed to the published version of the manuscript.


Data Availability Statement

The data presented in this study are available on re-quest from the corresponding author.




Publikationsverlauf

Eingereicht: 23. August 2022

Angenommen: 27. Oktober 2022

Artikel online veröffentlicht:
05. Dezember 2022

© 2022. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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