Intellectual Functioning of Children With Isolated PRS, PRS-Plus, and Syndromic PRS

Objective Describe the intelligence quotient (IQ) of children with Pierre Robin sequence (PRS). Design Prospective cohort study. Setting Neurodevelopmental follow-up clinic within a hospital. Patients Children with PRS (n = 45) who had been in the Neonatal Intensive Care Unit (NICU) were classified by a geneticist into 3 subgroups of isolated PRS (n = 20), PRS-plus additional medical features (n = 8), and syndromic PRS (n = 17) based on medical record review and genetic testing. Main Outcome Measure Children with PRS completed IQ testing at 5 or 8 years of age with the Wechsler Preschool and Primary Scale of Intelligence, Third Edition (WPPSI-III) or Fourth Edition (WPPSI-IV) or the Wechsler Intelligence Scale for Children, Fourth Edition (WISC-IV) or Fifth Edition (WISC-V). Results IQ scores were more than 1 to 2 standard deviations below the mean for 36% of the overall sample, which was significantly greater compared to test norms (binomial test P = .001). There was a significant association between PRS subtype and IQ (Fisher's exact P = .026). While only 20% of children with isolated PRS were within 1 standard deviation below average and 35% of children with syndromic PRS were below 1 to 2 standard deviations, 75% of PRS-plus children scored lower than 1 to 2 standard deviations below the mean. Conclusion PRS subgroups can help identify children at risk for cognitive delay. The majority of children with PRS-plus had low intellectual functioning, in contrast to the third of children with syndromic PRS who had low IQ and the majority of children with isolated PRS who had average or higher IQ.

Automated summary

This study describes the intelligence quotient (IQ) of children with Pierre Robin sequence (PRS). The results show that a significant proportion of PRS children have IQ scores below the average range, and there is a significant association between PRS subtype and IQ. Children with isolated PRS tend to have average or higher IQ, while those with syndromic PRS are more likely to have lower IQ, and the majority of PRS-plus children have low intellectual functioning.