Neurodevelopmental profile of HIVEP2-related disorder

Dev Med Child Neurol. 2022 May;64(5):654-661. doi: 10.1111/dmcn.15100. Epub 2021 Oct 26.


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.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Adolescent
  • Child
  • Child, Preschool
  • DNA-Binding Proteins
  • Epilepsy*
  • Female
  • Humans
  • Infant, Newborn
  • Intellectual Disability* / genetics
  • Male
  • Microcephaly*
  • Muscle Hypotonia
  • Retrospective Studies
  • Transcription Factors


  • DNA-Binding Proteins
  • Transcription Factors
  • HIVEP2 protein, human