Neurodevelopmental profile of HIVEP2-related disorder.
Dev Med Child Neurol
; 64(5): 654-661, 2022 05.
Article
en En
| MEDLINE
| ID: mdl-34704275
ABSTRACT
AIM:
To characterize the neurodevelopmental profile and systemic features of HIVEP2-related disorder.METHOD:
This study used retrospective medical history and standardized assessment data from Simons Searchlight to describe the clinical characteristics of 12 individuals (eight males, four females; age range 3y 3mo-12y 8mo; mean age [SD] 7y 7mo [2y 11mo]) with pathogenic HIVEP2 variants, focusing on their levels of adaptive functioning, autism symptomology, and emotional and behavioral characteristics.RESULTS:
Common features included neonatal complications, hypotonia, developmental delay, intellectual disability, language impairment, gastroesophageal reflux, and strabismus. A minority of individuals had epilepsy, microcephaly, or a movement disorder. Based on the Vineland Adaptive Behavior Scales, Second Edition, affected individuals showed impairments in adaptive behavior (mean composite standard score [SD] 56.4 [10.2]; n=8). The cohort also had significant impairments in social problems, as measured by the Social Responsiveness Scale, Second Edition (mean total score [SD] 76.4 [11.3]; n=10) and clinically significant emotional and behavioral difficulties, as measured by the Child Behavior Checklist for ages 6-18 (mean total T score [SD] 66.9 [8.2]; n=8).INTERPRETATION:
These results show that individuals with HIVEP2-related disorder have impairments in adaptive and social-related behaviors as well as difficulties in emotional and behavioral symptoms.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Epilepsia
/
Discapacidad Intelectual
/
Microcefalia
Tipo de estudio:
Observational_studies
Límite:
Adolescent
/
Child
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Child, preschool
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Female
/
Humans
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Male
/
Newborn
Idioma:
En
Revista:
Dev Med Child Neurol
Año:
2022
Tipo del documento:
Article
País de afiliación:
Estados Unidos