Cognitive development in females with PCDH19 gene-related epilepsy |
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| Affiliation: | 1. Unit of Clinical Psychology, Department of Neuroscience, Bambino Gesù Children''s Hospital, IRCCS, Rome, Italy;2. Division of Neurology, Department of Neuroscience, Bambino Gesù Children''s Hospital, IRCCS, Rome, Italy;3. Systems Medicine Department, Child Neurology Unit, Tor Vergata University of Rome, Italy;4. Unit of Molecular Medicine for Neuromuscular and Neurodegenerative Diseases, Department of Neuroscience, Bambino Gesù Children''s Hospital, IRCCS, Rome, Italy;5. “Amaducci” Neurology Unit, Department of Neuroscience, University of Bari, Bari, Italy;1. Epilepsy Center, Neurophysiology Unit, Neurological Department, IRCCS San Raffaele Hospital, Milan, Italy;2. Division of Neurology A, Azienda Ospedaliera Universitaria Integrata, Verona, Italy;3. Division of Neurology, "Franz Tappeiner" Hospital, Merano, Italy;4. Department of Neuroscience, Biomedicine and Movement Science, University of Verona, Verona, Italy;5. Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy;6. Department of Biomedical, Metabolic and Neural Sciences, Center for Neurosciences and Neurotechnology, University of Modena and Reggio Emilia, Modena, Italy;7. Neurology Unit, OCB Hospital, Azienda Ospedaliero-Universitaria di Modena, Modena, Italy;8. Epilepsy Center, Department of Medical and Surgical Sciences Regional, Magna Graecia University of Catanzaro, Catanzaro, Italy;9. IRCCS Istituto delle Scienze Neurologiche di Bologna, Unit of Neurology, Bellaria Hospital, Bologna, Italy;10. Pediatric Neurology Unit, "V. Buzzi" Children''s Hospital, Pediatrics Department, ASST Fatebenefratelli Sacco, Milan, Italy;11. Department of Neuroscience, IRCCS Bambino Gesù Children''s Hospital, Rome, Italy;12. Paediatric Neurology and Neurophysiology Unit, Department of Women''s and Children''s Health, University Hospital of Padua, Padua, Italy;13. IRCCS Istituto delle Scienze Neurologiche, Bellaria Hospital, Bologna, Italy;14. Department of Biomedical and Neuromotor Sciences, University of Bologna, Italy;1. Neurology Unit, Bambino Gesù Children''s Hospital, IRCCS, Rome, Italy;2. Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, “G. Gaslini” Institute, Genova, Italy;3. Department of Child and Adolescent Neuropsychiatry, Spedali Civili, Brescia, Italy;4. Laboratory of Neurogenetics, Department of Neurosciences, “G. Gaslini” Institute, Genova, Italy;1. Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù Children''s Hospital, IRCCS, Rome, Italy;2. Departamento de Neuropediatria, Fleni, Montañeses 2325, C1428AQK Ciudad de Buenos Aires, Argentina;3. Laboratory of Medical Genetics, Bambino Gesù Children''s Hospital, IRCCS, Rome, Italy;4. Genetics and Rare Diseases Research Division, Bambino Gesù Children''s Hospital, IRCSS, Rome, Italy;5. Neuroradiology Unit, Department of Imaging, Bambino Gesù Children''s Hospital, IRCCS, Rome, Italy;6. Child Neurology and Psychiatry Unit, Systems Medicine Department, Tor Vergata University, Via Montpellier 1, 00133 Rome, Italy;7. Medical Genetics, Department of Pediatrics, Bambino Gesù Children''s Hospital, IRCSS, Rome, Italy;8. Department of Neuroscience, Bambino Gesù Children''s Hospital, IRCCS, Rome;9. Member of European Reference Network EpiCARE |
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| Abstract: | Mutations in the PCDH19 gene are now recognized to cause epilepsy in females and are claiming increasing interest in the scientific world. Clinical features and seizure semiology have been described as heterogeneous. Intellectual disability might be present, ranging from mild to severe; behavioral and psychiatric problems are a common feature of the disorder, including aggressiveness, depressed mood, and psychotic traits.The purpose of our study was to describe the cognitive development in 11 girls with a de novo mutation in PCDH19 and early-onset epilepsy.Six patients had average mental development or mild intellectual disability regardless of persistence of seizures in clusters. Five patients presented moderate or severe intellectual disability and autistic features. In younger patients, we found that despite an average developmental quotient, they all presented a delay of expressive language acquisition and lower scores at follow-up testing completed at older ages, underlining that subtle dysfunctions might be present.Larger cohort and long-term follow-up might be useful in defining cognitive features and in improving the care of patients with PCDH19. |
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