High-functioning autism spectrum disorder with fluent speech and late-onset epilepsy: an unusual presentation of Inv-Dup (15) syndrome.
Neurocase
; 25(1-2): 62-65, 2019.
Article
in En
| MEDLINE
| ID: mdl-30991884
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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Epilepsy
/
Autism Spectrum Disorder
/
Intellectual Disability
Type of study:
Etiology_studies
Limits:
Adult
/
Female
/
Humans
Language:
En
Journal:
Neurocase
Journal subject:
CIENCIAS DO COMPORTAMENTO
/
NEUROLOGIA
/
PSICOLOGIA
/
PSIQUIATRIA
Year:
2019
Document type:
Article
Affiliation country:
Italia