Executive functioning in adolescents and adults with Silver-Russell syndrome

Burgevin, Mélissa; Lacroix, Agnès; Ollivier, Fanny; Bourdet, Karine; Coutant, R.; Donadille, Bruno; Faivre, Laurence; Manouvrier‐Hanu, Sylvie; Petit, Florence; Thauvin‐Robinet, Christel; Toutain, Annick; Netchine, Irène; Odent, Sylvie · 2023 · OpenAlex-citations

DOI: 10.1371/journal.pone.0279745

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Summary

This study investigates the executive functioning (EF) profile of adolescents and adults with Silver-Russell syndrome (SRS), a rare imprinting disorder characterized by growth retardation. While previous research has noted attention and learning difficulties in SRS patients, executive dysfunction had not been systematically evaluated. The authors aimed to determine which cognitive abilities are preserved or impaired in SRS, hypothesizing that patients would perform worse than controls on executive tasks and report more daily life difficulties. The study focused on two primary genetic subtypes: loss of methylation on chromosome 11p15 (11p15 LOM) and maternal uniparental disomy of chromosome 7 (UPD(7)mat). The researchers conducted a cross-sectional study involving 19 individuals with SRS (aged 13–39 years) and 19 healthy controls matched for age, sex, and education level. The SRS group consisted of 16 participants with 11p15 LOM and 3 with UPD(7)mat). Intellectual functioning was assessed using Wechsler scales (WISC-IV/V or WAIS-IV). Executive functions were evaluated using a battery of six cognitive tests: the d2-R test (sustained attention), Digit Span backward (working memory), Trail Making Test (cognitive flexibility and processing speed), Stroop test (inhibitory control), Verbal Fluency, and the Modified Card-Sorting Test. Additionally, the Behavior Rating Inventory of Executive Function (BRIEF) was completed by family members to assess real-world executive functioning. Results indicated that the total SRS group and the control group did not differ significantly in Full-Scale IQ or any of its index scores, confirming normal intellectual efficiency in the SRS cohort. In terms of executive performance, participants with SRS generally showed similar z-scores to controls across most tasks. Bayesian statistics revealed only one significant difference: the 11p15 LOM group had longer completion times for Part A of the Trail Making Test compared to controls, suggesting slower psychomotor speed or visual scanning. However, despite these group-level similarities, several individual participants with SRS exhibited clinically significant scores on various executive measures. The study concludes that the cognitive phenotype of SRS is not broadly characterized by executive dysfunction at the group level, particularly in the context of normal intellectual efficiency. Nevertheless, the presence of clinically significant deficits in some individuals suggests that patients with SRS may be at high risk for developing executive dysfunction or attention-deficit/hyperactivity disorder (ADHD). These findings provide new insights into the neuropsychological profile of SRS, highlighting the need for individualized assessments rather than assuming uniform cognitive impairment across the syndrome.

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