High-functioning autism spectrum disorder with fluent speech and late-onset epilepsy: an unusual presentation of Inv-Dup (15) syndrome |
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| Authors: | Pia Bernardo Luigi Del Gaudio Francesca Madia Maria Pia Riccio Maria Marino Claudia Santoro |
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| Affiliation: | 1. Department of Translational Medical Sciences, Child Neuropsychiatry, “Federico II” University of Naples, Naples, Italy;2. Department of Pediatric Neurosciences, Neuropsychiatry Unit, Santobono-Pausilipon Children‘s Hospital, Naples, Italy;3. Department of Neuroscience, Reproductive and Odontostomatological Sciences, Epilepsy Centre, “Federico II” University of Naples, Naples, Italy;4. Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, “G. Gaslini” Institute, Genoa, Italy;5. Regional Referral Center for Neurofibromatosis, Department of Woman, Child, General and Specialistic Surgery, “Luigi Vanvitelli” University of Naples, Napoli, Italy |
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| Abstract: | Many neuropsychiatric phenotypes have been reported in association with rearrangements in the 15q11-q13 region. Clinical presentations can include hypotonia, developmental delay, severe/moderate intellectual disabilities, poor expressive language, difficult to treat epilepsy, and autism spectrum disorders. Here we report an additional case of a girl with inversion duplication on chromosome 15 (Inv-Dup 15) showing a peculiar and milder clinical phenotype, including atypical high-functioning autism disorder, late onset and drug-responsive epilepsy, and a relatively good language development . This report suggests that a diagnosis of Inv-Dup (15) can be suspected during more benign atypical condition with a better outcome than usually reported. |
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| Keywords: | Inv dup (15) language intellectual disability epilepsy atypical autism spectrum disorder |
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