High-functioning autism spectrum disorder with fluent speech and late-onset epilepsy: an unusual presentation of Inv-Dup (15) syndrome. Issue 1 (4th March 2019)

• Record Type: Journal Article
• Authors: Bernardo, Pia; Del Gaudio, Luigi; Madia, Francesca; Riccio, Maria Pia; Marino, Maria; Santoro, Claudia; Caccavale, Carmela; Striano, Salvatore; Bravaccio, Carmela; Coppola, Antonietta
• Is Part Of: Neurocase. Volume 25:Issue 1/2(2019)
• Page Start: 62
• Page End: 65
• Publication Date: 2019-03-04
• Subjects: Inv dup (15) -- language -- intellectual disability -- epilepsy -- atypical autism spectrum disorder; Neurology -- Periodicals; Neuropsychology -- Case Report; Mental Disorders -- Case Report; Nervous System Diseases -- Case Report; 616.8
• DOI: 10.1080/13554794.2019.1602144
• Languages: English
• ISSNs: 1355-4794

Abstract

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.