Intellectual functioning in Silver-Russel syndrome: First study in adults

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Intellectual functioning in Silver-Russel syndrome: First study in adults. / Burgevin, Melissa; Lacroix, Agnes; Brown, Genavee; Mikaty, Myriam; Coutinho, Virginie; Netchine, Irene; Odent, Sylvie.

In: Applied neuropsychology. Adult, 08.08.2019.

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Burgevin, Melissa ; Lacroix, Agnes ; Brown, Genavee ; Mikaty, Myriam ; Coutinho, Virginie ; Netchine, Irene ; Odent, Sylvie. / Intellectual functioning in Silver-Russel syndrome: First study in adults. In: Applied neuropsychology. Adult. 2019.

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@article{89c86620fa134d4281f05e29548829bf,
title = "Intellectual functioning in Silver-Russel syndrome: First study in adults",
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{\textquoteright} 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.",
author = "Melissa Burgevin and Agnes Lacroix and Genavee Brown and Myriam Mikaty and Virginie Coutinho and Irene Netchine and Sylvie Odent",
year = "2019",
month = aug,
day = "8",
doi = "10.1080/23279095.2019.1644643",
language = "English",
journal = "Applied neuropsychology. Adult",
issn = "2327-9095",
publisher = "Taylor & Francis",

}

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TY - JOUR

T1 - Intellectual functioning in Silver-Russel syndrome: First study in adults

AU - Burgevin, Melissa

AU - Lacroix, Agnes

AU - Brown, Genavee

AU - Mikaty, Myriam

AU - Coutinho, Virginie

AU - Netchine, Irene

AU - Odent, Sylvie

PY - 2019/8/8

Y1 - 2019/8/8

N2 - 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.

AB - 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.

U2 - 10.1080/23279095.2019.1644643

DO - 10.1080/23279095.2019.1644643

M3 - Article

JO - Applied neuropsychology. Adult

JF - Applied neuropsychology. Adult

SN - 2327-9095

ER -