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Behavior, Cognition and Neuroscience
Volume 25, 2019 - Issue 1-2
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Reports

High-functioning autism spectrum disorder with fluent speech and late-onset epilepsy: an unusual presentation of Inv-Dup (15) syndrome

Pia BernardoDepartment of Translational Medical Sciences, Child Neuropsychiatry, “Federico II” University of Naples, Naples, Italy;Department of Pediatric Neurosciences, Neuropsychiatry Unit, Santobono-Pausilipon Children‘s Hospital, Naples, ItalyCorrespondence[email protected]
,
Luigi Del GaudioDepartment of Neuroscience, Reproductive and Odontostomatological Sciences, Epilepsy Centre, “Federico II” University of Naples, Naples, Italy
,
Francesca MadiaPediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, “G. Gaslini” Institute, Genoa, Italy
,
Maria Pia RiccioDepartment of Translational Medical Sciences, Child Neuropsychiatry, “Federico II” University of Naples, Naples, Italy
,
Maria MarinoDepartment of Translational Medical Sciences, Child Neuropsychiatry, “Federico II” University of Naples, Naples, Italy
,
Claudia SantoroRegional Referral Center for Neurofibromatosis, Department of Woman, Child, General and Specialistic Surgery, “Luigi Vanvitelli” University of Naples, Napoli, Italy
,
Carmela CaccavaleDepartment of Neuroscience, Reproductive and Odontostomatological Sciences, Epilepsy Centre, “Federico II” University of Naples, Naples, Italy
,
Salvatore StrianoDepartment of Neuroscience, Reproductive and Odontostomatological Sciences, Epilepsy Centre, “Federico II” University of Naples, Naples, Italy
,
Carmela BravaccioDepartment of Translational Medical Sciences, Child Neuropsychiatry, “Federico II” University of Naples, Naples, Italy
&
Antonietta CoppolaDepartment of Neuroscience, Reproductive and Odontostomatological Sciences, Epilepsy Centre, “Federico II” University of Naples, Naples, Italy
 show all
Pages 62-65 | Received 19 Jul 2018, Accepted 22 Mar 2019, Published online: 16 Apr 2019

References

  • Battaglia, A. (2008, November). The inv dup (15) or idic (15) syndrome (tetrasomy 15). Orphanet Journal of Rare Diseases, 19, 30.
  • Borgatti, R., Piccinelli, P., Passoni, D., Dalprà, L., Miozzo, M., Micheli, R., & Balottin, U. (2001, February). Relationship between clinical and genetic features in inverted duplicated chromosome 15 patients. Pediatric Neurology, 24, 111–116.
  • Burnside, R. D., Pasion, R., Mikhail, F. M., Carroll, A. J., Robin, N. H., Youngs, E. L., & Butler, M. G. (2011, October). Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: A susceptibility region for neurological dysfunction including developmental and language delay. Human Genetics, 130, 517–528.
  • Chifari, R., Guerrini, R., Pierluigi, M., Cavani, S., Sgrò, V., Elia, M., & Canevini, M. P. (2002, September). Mild generalized epilepsy and developmental disorder associated with large inv dup (15). Epilepsia, 43, 1096–1100.
  • Coppola, A., Ruosi, P., Santulli, L., Striano, S., Zara, F., Striano, P., & Sisodiya, S. M. (2013, November). Neurological features and long-term follow-up in 15q11.2-13.1 duplication. European Journal of Medical Genetics, 56, 614–618.
  • Lord, C., Rutter, M., & Le Couteur, A. (1994, October). Autism diagnostic interview revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. Journal of Autism and Developmental Disorders, 24, 659–685.
  • Matricardi, S., Darra, F., Spalice, A., Basti, C., Fontana, E., Dalla Bernardina, B., & Verrotti, A. (2018, June). Electroclinical findings and long-term outcomes in epileptic patients with inv dup (15). Acta Neurologica Scandinavica, 137, 575–581.
  • Rineer, S., Finucane, B., & Simon, E. W. (1998, September). Autistic symptoms among children and young adults with isodicentric chromosome 15. American Journal of Medical Genetics, 81, 428–433.
  • Sparrow, S., Balla, D., & Cicchetti, D. (1984). Vineland adaptive behaviour scale. Circle Pines, MN: American Guidance Services.
  • Verrotti, A., Sertorio, F., Ferrara, M. S., & Striano, P. (2017, April). Electroclinical features of epilepsy in patients with invdup(15). Seizure, 47, 87–91.

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