Intellectual functioning in Silver-Russell syndrome First study in adults - Université de Rennes Access content directly
Journal Articles Applied Neuropsychology: Adult Year : 2021

Intellectual functioning in Silver-Russell syndrome First study in adults


Silver-Russell syndrome (SRS) is a rare genetic disorder (estimated incidence 1/30,000 to 100,000 live births). So far, only a few studies have focused on the cognitive profile of individuals with SRS, and these were conducted some time ago, concentrated on pediatric cohorts, and included patients who had been diagnosed using a variety of clinical diagnostic systems. There has yet to be any research on the intellectual functioning of adults with SRS. This study sought to establish the intelligence, strengths and weaknesses within intellectual profile of adults with SRS, compared with normative data. Ten individuals with 11p15 epimutation aged 18–39 years completed the Wechsler Adult Intelligence Scale-Fourth Edition. Measures of interest included participants’ intelligence (Full Scale Intelligence Quotient [FSIQ]) and four domains of cognitive functioning: verbal comprehension, perceptual reasoning, working memory and processing speed. Discrepancy scores were calculated, and descriptive statistical and linear correlations were used to investigate factors associated with IQ outcome. Clinical and medical information such as rehabilitation, and perceived difficulties in daily life were collected by interviews and questionnaires. Results showed that the mean FSIQ score was in the average range (M = 95.40, SD = 18.55) and they performed best on verbal comprehension. Frequent daily difficulties were reported by patients and/or their families: learning disabilities and low self-esteem were perceived by 60% of adults. Early intervention and multidisciplinary care from childhood to adulthood are important in SRS for care potential medical, cognitive and psychosocial problems. This is the first study to document the intellectual functioning of adults with SRS.
Fichier principal
Vignette du fichier
Burgevin et al - 2021 - Intellectual functioning in Silver-Russellsyndrome.pdf (1.7 Mo) Télécharger le fichier
Origin : Files produced by the author(s)

Dates and versions

hal-02277998 , version 1 (10-11-2021)


Attribution - NonCommercial



Mélissa Burgevin, Agnès Lacroix, Genavee Brown, Myriam Mikaty, Virginie Coutinho, et al.. Intellectual functioning in Silver-Russell syndrome First study in adults. Applied Neuropsychology: Adult, 2021, 28 (4), pp.391-402. ⟨10.1080/23279095.2019.1644643⟩. ⟨hal-02277998⟩
328 View
80 Download



Gmail Facebook X LinkedIn More