Autism spectrum disorder in a patient with Nicolaides-Baraitser Syndrome: case report
Einstein (Säo Paulo)
; 21: eRC0480, 2023.
Article
in English
|
LILACS-Express
| LILACS
| ID: biblio-1520852
Responsible library:
BR1.1
ABSTRACT
ABSTRACT Nicolaides-Baraitser Syndrome is a rare genetic condition that clinically presents with intellectual disabilities, facial and bone changes, and sparse hair. In Brazil, only one case has been previously reported without genetic confirmation. We present the case of an 8-year-old boy, clinically and genetically diagnosed with Nicolaides-Baraitser Syndrome, who developed autism spectrum disorder characteristics with a formal diagnosis at the age of eight. Diagnosing autism spectrum disorder in patients with intellectual disabilities is a clinical challenge requiring careful evaluation.
Full text:
Available
Collection:
International databases
Database:
LILACS
Language:
English
Journal:
Einstein (Säo Paulo)
Journal subject:
Medicine
Year:
2023
Document type:
Article
Affiliation country:
Brazil
Institution/Affiliation country:
Escola Superior de Ciências da Saúde/BR
/
Fundação de Ensino e Pesquisa em Ciências da Saúde/BR