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Cortical Visual Impairment Across a Range of Neurodevelopmental Disorders: Clinical Characterization, Diagnostic Tool

Megan Abbott1,2, Katie Angione1,2, Megan Stringfellow3

  • 1Precision Medicine Institute, Children's Hospital Colorado, Anschutz Medical Campus, Aurora, CO, USA.

Journal of Child Neurology
|August 6, 2025
PubMed

Insights

Cortical visual impairment affects 44% of children with certain neurogenetic disorders, particularly STXBP1 and 8p-related conditions. Early detection through tools like the CDKL5-Clinical Severity Assessment is crucial for better developmental outcomes.

Area of Science:

  • Neuroscience
  • Genetics
  • Ophthalmology

Background:

  • Cortical visual impairment (CVI) is a significant concern in pediatric neurodevelopmental disorders but is often underdiagnosed.
  • Understanding CVI prevalence in specific neurogenetic conditions is essential for targeted interventions.

Purpose of the Study:

  • To determine the prevalence and severity of CVI in STXBP1, SLC6A1, Ring 14, and 8p-related disorders.
  • To evaluate the CDKL5-Clinical Severity Assessment-Clinician vision subdomain as a diagnostic tool for CVI.
  • To examine the relationship between CVI and developmental outcomes in these patient populations.

Main Methods:

  • Retrospective chart review of 85 patients with STXBP1, SLC6A1, Ring 14, or 8p-related disorders.
  • Assessment of CVI using the CDKL5-Clinical Severity Assessment-Clinician vision subdomain.
  • Correlation analysis between CVI, CDKL5 scores, and Vineland Adaptive Behavioral Scales-Third Edition (VABS-3) scores.

Main Results:

  • CVI was identified in 44% of patients, with the highest prevalence in 8p disorders (54%) and STXBP1 disorders (50%).
  • No CVI cases were observed in the SLC6A1 disorder group.
  • The CDKL5-Clinical Severity Assessment-Clinician vision subdomain effectively identified CVI (mean score 25.9 vs 2.6, P < .0001), with a cutoff score ≥11 demonstrating high specificity (95.9%) and positive predictive value (94.3%).
  • CVI was significantly associated with poorer developmental outcomes, indicated by higher CDKL5 scores and lower VABS-3 scores.

Conclusions:

  • CVI is prevalent in specific neurogenetic disorders and is linked to adverse developmental trajectories.
  • The CDKL5-Clinical Severity Assessment-Clinician vision subdomain is a valuable tool for diagnosing CVI in this population.
  • Systematic screening for CVI in children with neurogenetic conditions is recommended to facilitate early intervention and improve outcomes.

Keywords:
cortical visual impairmentdevelopmental and epileptic encephalopathiesneurodevelopmental disorders

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