Intellectual functioning in Silver-Russell syndrome: First study in adults.

Applied Neuropsychology. Adult
Mélissa BurgevinS Odent

Abstract

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. R...Continue Reading

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Citations

Oct 31, 2019·The Journal of Clinical Endocrinology and Metabolism·Giuseppa PattiNatascia Di Iorgi
Feb 15, 2020·Journal of Medical Genetics·Oluwakemi Lokulo-SodipeI Karen Temple
Dec 10, 2020·Genes·Yerai VadoGuiomar Perez de Nanclares
Jun 1, 2021·Frontiers in Pediatrics·Irène NetchineMohamad Maghnie

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