[Children and adolescents with intellectual disabilities studied with genetic tests according to their clinical phenotype]. / Estudio genético de acuerdo a características fenotípicas de niños y adolescentes con discapacidad intelectual de etiología indeterminada.
Andes Pediatr
; 92(6): 879-887, 2021 Dec.
Article
em Es
| MEDLINE
| ID: mdl-35506799
ABSTRACT
INTRODUCTION:
Intellectual disability (ID) is a neurodevelopmental disorder characterized by limitations in intellec tual and adaptive functioning, of various etiologies, including genetic causes.OBJECTIVE:
to describe genetic studies carried out in a series of children and adolescents with ID of previously undetermined etiology, considering their phenotypic characteristics. PATIENTS ANDMETHOD:
Descriptive study of a series of patients with ID aged 6 to 18 years. Clinical records, cognitive assessment results (Wechsler -TADI), and genetic study performed were reviewed. They were classified according to phenotypic characteristics into Group 1 patients without a specific phenotype, Group 2 patients with Angel- man- and Rett-like neurodevelopmental disorders phenotype, and Group 3 patients with difficult- to-control seizures. Group 1 was studied with CMA and Groups 2 and 3 with specific genetic panels.RESULTS:
18 patients were described, average age 11 years, male predominance, non-consanguineous parents, and with history of psychomotor retardation. Common comorbidities were epilepsy, autism spectrum disorder (ASD), and behavioral difficulties. Most had a neurological examination without focus and had TADI with very poor developmental ages. In Group 1, there was one patient with a 16p11.2 microdeletion and in Group 3 a duplication of the IQSEC2 gene was found in a patient with difficult-to-control seizures.CONCLUSIONS:
The phenotypic characteristics allow to guide the choice of specific genetic studies in children and adolescents with ID of previously undetermined etiology to approach the etiological diagnosis.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Transtorno do Espectro Autista
/
Deficiência Intelectual
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
/
Prognostic_studies
Limite:
Adolescent
/
Female
/
Humans
/
Male
Idioma:
Es
Revista:
Andes Pediatr
Ano de publicação:
2021
Tipo de documento:
Article
País de afiliação:
Chile