Cognitive profile, autistic traits, visual perception, and visual evoked potential findings in Silver–Russell syndrome

Silver-Russell syndrome (SRS) is a rare imprinting disorder primarily characterized by growth restriction, but its broader neurodevelopmental phenotype remains incompletely described. We evaluated autistic traits, cognitive function, visuospatial abilities, visual acuity, and visual evoked potentials (VEPs) in children and young adults with SRS. A multidisciplinary team in Gothenburg, Sweden, assessed 24 individuals with SRS. Age-appropriate cognitive assessments were performed and autistic traits were assessed using parental questionnaires and medical records. Perceptual visual dysfunctions (PVDs) were compared with 112 matched controls from a previous study in Gothenburg. The median age was 9.3 years (range 3.4–17.1) at the cognitive assessment and 11.7 years (range 3.4–22.1) at the ophthalmological examination. Intelligence quotient (IQ) scores ranged from 66–142 and 9/24 scored below 85. Verbal–performance IQ discrepancies of ≥15 points were observed in 12/22 individuals. Six boys reached the Autism Spectrum Screening Questionnaire cutoff scores or had an established autism spectrum disorder diagnosis. PVDs were recorded in 5/21 individuals and 4/112 controls (p = 0.008). There were 10/16 patients with abnormal VEPs: three had PVDs and four showed verbal–performance IQ discrepancies. Most individuals with SRS showed normal overall IQ, but neurodevelopmental concerns, impaired visual perception and abnormal VEPs were common. Regular follow-up visits are recommended.