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

Pia Bernardo, Luigi Del Gaudio, Francesca Madia, Maria Marino, Claudia Santoro, Carmela Caccavale, Salvatore Striano, Carmela Bravaccio, Antonietta Coppola

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)62-65
Number of pages4
JournalNeurocase
Volume25
Issue number1-2
DOIs
Publication statusPublished - Apr 18 2019

Keywords

  • Adult
  • Autism Spectrum Disorder/etiology
  • Chromosome Aberrations
  • Chromosomes, Human, Pair 15
  • Epilepsy/etiology
  • Female
  • Humans
  • Intellectual Disability/complications

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