Age-Related Neurodevelopmental Features in Children with Joubert Syndrome

Anna Scuderi; Adriana Prato; Daniela Dicanio; Giulia Spoto; Vincenzo Salpietro; Giorgia Ceravolo; Francesca Granata; Giovanni Farello; Giulia Iapadre; Luca Zagaroli; Giuliana Nanni; Ida Ceravolo; Erica Pironti; Greta Amore; Gabriella Di Rosa

doi:10.1055/s-0042-1759539

Journal of Pediatric Neurology, Inhaltsverzeichnis

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

Anna Scuderi

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

,

Adriana Prato

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

,

Daniela Dicanio

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

,

Giulia Spoto

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

,

Vincenzo Salpietro

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

,

Giorgia Ceravolo

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

,

Francesca Granata

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

,

Giovanni Farello

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

,

Giulia Iapadre

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

,

Luca Zagaroli

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

,

Giuliana Nanni

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

,

Ida Ceravolo

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

,

Erica Pironti

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

,

Greta Amore

¹Unit 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

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

› Institutsangaben

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

Volltext

Referenzen

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