Feasibility, reliability, and clinical validity of the Test of Attentional Performance for Children (KiTAP) in Fragile X syndrome (FXS) / A. KNOX in Journal of Neurodevelopmental Disorders, 4-1 (December 2012)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 4-1 (December 2012) . - p.2 Titre : Feasibility, reliability, and clinical validity of the Test of Attentional Performance for Children (KiTAP) in Fragile X syndrome (FXS) Type de document : Texte imprimé et/ou numérique Auteurs : A. KNOX, Auteur ; A. SCHNEIDER, Auteur ; F. ABUCAYAN, Auteur ; C. HERVEY, Auteur ; C. TRAN, Auteur ; D. HESSL, Auteur ; Elizabeth BERRY-KRAVIS, Auteur Article en page(s) : p.2 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : BACKGROUND: Attention and inhibition are core executive-function deficits in FRagile X syndrome (FXS). This pilot study evaluated the feasibility, reproducibility, and clinical relevance of the KiTAP, a computer-based pictorial measure of attention and inhibition with an enchanted-castle theme, in an FXS cohort. METHODS: The 8-subtest KiTAP battery (as many subtests as each could perform) was given to 36 subjects with FXS, of variable age and cognitive/behavioral functioning, and 29 were retested, with an interval of 2 to 4 weeks between sessions. Subjects were rated by parents on the Aberrant Behavior Checklist-Community Edition (ABC-C) and Behavior Assessment System for Children, Second Edition (BASC-2). Feasibility, ceiling and basal effects, and data range and distribution analyses were used to eliminate outliers and invalid data points. Reproducibility of scores was analyzed using intraclass correlation coefficients (ICCs) and validity/clinical relevance was assessed by correlating KiTAP scores with ABC-C and BASC-2 scores. RESULTS: Most of the participants with FXS were able to complete the Alertness, Distractibility, Flexibility, and Go/NoGo subtests.About 50 to 60% completed the Visual Scanning and Vigilance subtests, and 20 to 25% completed the Sustained Attention and Divided Attention subtests. A panel of seven scores from four subtests were identified as feasible for most subjects, lacked excessive ceiling, basal, or learning effects, exhibited an acceptable range and distribution of scores, had good reproducibility (ICC > 0.7), and correlated with behavioral ratings for hyperactivity or attention (P < 0.01). Only minor differences in performance on the KiTAP were seen between mental age-matched cohorts of subjects with FXS and non-FXS intellectual disability. CONCLUSIONS: The KiTAP can be administered to cohorts with FXS over a wide range of function with valid reproducible scores. With additional validation, it could represent a useful outcome measure for assessment of attention/executive-function abilities in clinical trials targeted to these core deficits in FXS. En ligne : http://dx.doi.org/10.1186/1866-1955-4-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=344 [article] Feasibility, reliability, and clinical validity of the Test of Attentional Performance for Children (KiTAP) in Fragile X syndrome (FXS) [Texte imprimé et/ou numérique] / A. KNOX, Auteur ; A. SCHNEIDER, Auteur ; F. ABUCAYAN, Auteur ; C. HERVEY, Auteur ; C. TRAN, Auteur ; D. HESSL, Auteur ; Elizabeth BERRY-KRAVIS, Auteur . - p.2. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 4-1 (December 2012) . - p.2 Index. décimale : PER Périodiques Résumé : BACKGROUND: Attention and inhibition are core executive-function deficits in FRagile X syndrome (FXS). This pilot study evaluated the feasibility, reproducibility, and clinical relevance of the KiTAP, a computer-based pictorial measure of attention and inhibition with an enchanted-castle theme, in an FXS cohort. METHODS: The 8-subtest KiTAP battery (as many subtests as each could perform) was given to 36 subjects with FXS, of variable age and cognitive/behavioral functioning, and 29 were retested, with an interval of 2 to 4 weeks between sessions. Subjects were rated by parents on the Aberrant Behavior Checklist-Community Edition (ABC-C) and Behavior Assessment System for Children, Second Edition (BASC-2). Feasibility, ceiling and basal effects, and data range and distribution analyses were used to eliminate outliers and invalid data points. Reproducibility of scores was analyzed using intraclass correlation coefficients (ICCs) and validity/clinical relevance was assessed by correlating KiTAP scores with ABC-C and BASC-2 scores. RESULTS: Most of the participants with FXS were able to complete the Alertness, Distractibility, Flexibility, and Go/NoGo subtests.About 50 to 60% completed the Visual Scanning and Vigilance subtests, and 20 to 25% completed the Sustained Attention and Divided Attention subtests. A panel of seven scores from four subtests were identified as feasible for most subjects, lacked excessive ceiling, basal, or learning effects, exhibited an acceptable range and distribution of scores, had good reproducibility (ICC > 0.7), and correlated with behavioral ratings for hyperactivity or attention (P < 0.01). Only minor differences in performance on the KiTAP were seen between mental age-matched cohorts of subjects with FXS and non-FXS intellectual disability. CONCLUSIONS: The KiTAP can be administered to cohorts with FXS over a wide range of function with valid reproducible scores. With additional validation, it could represent a useful outcome measure for assessment of attention/executive-function abilities in clinical trials targeted to these core deficits in FXS. En ligne : http://dx.doi.org/10.1186/1866-1955-4-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=344

Improving IQ measurement in intellectual disabilities using true deviation from population norms / Stephanie M. SANSONE in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.16 Titre : Improving IQ measurement in intellectual disabilities using true deviation from population norms Type de document : Texte imprimé et/ou numérique Auteurs : Stephanie M. SANSONE, Auteur ; A. SCHNEIDER, Auteur ; E. BICKEL, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; C. PRESCOTT, Auteur ; D. HESSL, Auteur Article en page(s) : p.16 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Cognitive assessment  Fragile X syndrome  Iq  Intellectual disability Index. décimale : PER Périodiques Résumé : BACKGROUND: Intellectual disability (ID) is characterized by global cognitive deficits, yet the very IQ tests used to assess ID have limited range and precision in this population, especially for more impaired individuals. METHODS: We describe the development and validation of a method of raw z-score transformation (based on general population norms) that ameliorates floor effects and improves the precision of IQ measurement in ID using the Stanford Binet 5 (SB5) in fragile X syndrome (FXS; n = 106), the leading inherited cause of ID, and in individuals with idiopathic autism spectrum disorder (ASD; n = 205). We compared the distributional characteristics and Q-Q plots from the standardized scores with the deviation z-scores. Additionally, we examined the relationship between both scoring methods and multiple criterion measures. RESULTS: We found evidence that substantial and meaningful variation in cognitive ability on standardized IQ tests among individuals with ID is lost when converting raw scores to standardized scaled, index and IQ scores. Use of the deviation z- score method rectifies this problem, and accounts for significant additional variance in criterion validation measures, above and beyond the usual IQ scores. Additionally, individual and group-level cognitive strengths and weaknesses are recovered using deviation scores. CONCLUSION: Traditional methods for generating IQ scores in lower functioning individuals with ID are inaccurate and inadequate, leading to erroneously flat profiles. However assessment of cognitive abilities is substantially improved by measuring true deviation in performance from standardization sample norms. This work has important implications for standardized test development, clinical assessment, and research for which IQ is an important measure of interest in individuals with neurodevelopmental disorders and other forms of cognitive impairment. En ligne : http://dx.doi.org/10.1186/1866-1955-6-16 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346 [article] Improving IQ measurement in intellectual disabilities using true deviation from population norms [Texte imprimé et/ou numérique] / Stephanie M. SANSONE, Auteur ; A. SCHNEIDER, Auteur ; E. BICKEL, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; C. PRESCOTT, Auteur ; D. HESSL, Auteur . - p.16. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.16 Mots-clés : Autism spectrum disorder  Cognitive assessment  Fragile X syndrome  Iq  Intellectual disability Index. décimale : PER Périodiques Résumé : BACKGROUND: Intellectual disability (ID) is characterized by global cognitive deficits, yet the very IQ tests used to assess ID have limited range and precision in this population, especially for more impaired individuals. METHODS: We describe the development and validation of a method of raw z-score transformation (based on general population norms) that ameliorates floor effects and improves the precision of IQ measurement in ID using the Stanford Binet 5 (SB5) in fragile X syndrome (FXS; n = 106), the leading inherited cause of ID, and in individuals with idiopathic autism spectrum disorder (ASD; n = 205). We compared the distributional characteristics and Q-Q plots from the standardized scores with the deviation z-scores. Additionally, we examined the relationship between both scoring methods and multiple criterion measures. RESULTS: We found evidence that substantial and meaningful variation in cognitive ability on standardized IQ tests among individuals with ID is lost when converting raw scores to standardized scaled, index and IQ scores. Use of the deviation z- score method rectifies this problem, and accounts for significant additional variance in criterion validation measures, above and beyond the usual IQ scores. Additionally, individual and group-level cognitive strengths and weaknesses are recovered using deviation scores. CONCLUSION: Traditional methods for generating IQ scores in lower functioning individuals with ID are inaccurate and inadequate, leading to erroneously flat profiles. However assessment of cognitive abilities is substantially improved by measuring true deviation in performance from standardization sample norms. This work has important implications for standardized test development, clinical assessment, and research for which IQ is an important measure of interest in individuals with neurodevelopmental disorders and other forms of cognitive impairment. En ligne : http://dx.doi.org/10.1186/1866-1955-6-16 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346

Neurogenetic analysis of childhood disintegrative disorder / A. R. GUPTA in Molecular Autism, 8 (2017)  

Public ISBD [article]  inMolecular Autism > 8 (2017) . - 19p. Titre : Neurogenetic analysis of childhood disintegrative disorder Type de document : Texte imprimé et/ou numérique Auteurs : A. R. GUPTA, Auteur ; A. WESTPHAL, Auteur ; D. Y. J. YANG, Auteur ; C. A. W. SULLIVAN, Auteur ; J. EILBOTT, Auteur ; S. ZAIDI, Auteur ; A. VOOS, Auteur ; B. C. VANDER WYK, Auteur ; Pamela VENTOLA, Auteur ; Z. WAQAR, Auteur ; T. V. FERNANDEZ, Auteur ; A. G. ERCAN-SENCICEK, Auteur ; M. F. WALKER, Auteur ; M. CHOI, Auteur ; A. SCHNEIDER, Auteur ; T. HEDDERLY, Auteur ; Gillian BAIRD, Auteur ; H. FRIEDMAN, Auteur ; C. CORDEAUX, Auteur ; A. RISTOW, Auteur ; F. SHIC, Auteur ; Fred R. VOLKMAR, Auteur ; Kevin A. PELPHREY, Auteur Article en page(s) : 19p. Langues : Anglais (eng) Mots-clés : Autism spectrum disorder (ASD)  Childhood disintegrative disorder (CDD)  Eye tracking  Functional magnetic resonance imaging (fMRI)  Genetics  Intellectual disability (ID)  Regression Index. décimale : PER Périodiques Résumé : BACKGROUND: Childhood disintegrative disorder (CDD) is a rare form of autism spectrum disorder (ASD) of unknown etiology. It is characterized by late-onset regression leading to significant intellectual disability (ID) and severe autism. Although there are phenotypic differences between CDD and other forms of ASD, it is unclear if there are neurobiological differences. METHODS: We pursued a multidisciplinary study of CDD (n = 17) and three comparison groups: low-functioning ASD (n = 12), high-functioning ASD (n = 50), and typically developing (n = 26) individuals. We performed whole-exome sequencing (WES), copy number variant (CNV), and gene expression analyses of CDD and, on subsets of each cohort, non-sedated functional magnetic resonance imaging (fMRI) while viewing socioemotional (faces) and non-socioemotional (houses) stimuli and eye tracking while viewing emotional faces. RESULTS: We observed potential differences between CDD and other forms of ASD. WES and CNV analyses identified one or more rare de novo, homozygous, and/or hemizygous (mother-to-son transmission on chrX) variants for most probands that were not shared by unaffected sibling controls. There were no clearly deleterious variants or highly recurrent candidate genes. Candidate genes that were found to be most conserved at variant position and most intolerant of variation, such as TRRAP, ZNF236, and KIAA2018, play a role or may be involved in transcription. Using the human BrainSpan transcriptome dataset, CDD candidate genes were found to be more highly expressed in non-neocortical regions than neocortical regions. This expression profile was similar to that of an independent cohort of ASD probands with regression. The non-neocortical regions overlapped with those identified by fMRI as abnormally hyperactive in response to viewing faces, such as the thalamus, cerebellum, caudate, and hippocampus. Eye-tracking analysis showed that, among individuals with ASD, subjects with CDD focused on eyes the most when shown pictures of faces. CONCLUSIONS: Given that cohort sizes were limited by the rarity of CDD, and the challenges of conducting non-sedated fMRI and eye tracking in subjects with ASD and significant ID, this is an exploratory study designed to investigate the neurobiological features of CDD. In addition to reporting the first multimodal analysis of CDD, a combination of fMRI and eye-tracking analyses are being presented for the first time for low-functioning individuals with ASD. Our results suggest differences between CDD and other forms of ASD on the neurobiological as well as clinical level. En ligne : http://dx.doi.org/10.1186/s13229-017-0133-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=330 [article] Neurogenetic analysis of childhood disintegrative disorder [Texte imprimé et/ou numérique] / A. R. GUPTA, Auteur ; A. WESTPHAL, Auteur ; D. Y. J. YANG, Auteur ; C. A. W. SULLIVAN, Auteur ; J. EILBOTT, Auteur ; S. ZAIDI, Auteur ; A. VOOS, Auteur ; B. C. VANDER WYK, Auteur ; Pamela VENTOLA, Auteur ; Z. WAQAR, Auteur ; T. V. FERNANDEZ, Auteur ; A. G. ERCAN-SENCICEK, Auteur ; M. F. WALKER, Auteur ; M. CHOI, Auteur ; A. SCHNEIDER, Auteur ; T. HEDDERLY, Auteur ; Gillian BAIRD, Auteur ; H. FRIEDMAN, Auteur ; C. CORDEAUX, Auteur ; A. RISTOW, Auteur ; F. SHIC, Auteur ; Fred R. VOLKMAR, Auteur ; Kevin A. PELPHREY, Auteur . - 19p. Langues : Anglais (eng) in Molecular Autism > 8 (2017) . - 19p. Mots-clés : Autism spectrum disorder (ASD)  Childhood disintegrative disorder (CDD)  Eye tracking  Functional magnetic resonance imaging (fMRI)  Genetics  Intellectual disability (ID)  Regression Index. décimale : PER Périodiques Résumé : BACKGROUND: Childhood disintegrative disorder (CDD) is a rare form of autism spectrum disorder (ASD) of unknown etiology. It is characterized by late-onset regression leading to significant intellectual disability (ID) and severe autism. Although there are phenotypic differences between CDD and other forms of ASD, it is unclear if there are neurobiological differences. METHODS: We pursued a multidisciplinary study of CDD (n = 17) and three comparison groups: low-functioning ASD (n = 12), high-functioning ASD (n = 50), and typically developing (n = 26) individuals. We performed whole-exome sequencing (WES), copy number variant (CNV), and gene expression analyses of CDD and, on subsets of each cohort, non-sedated functional magnetic resonance imaging (fMRI) while viewing socioemotional (faces) and non-socioemotional (houses) stimuli and eye tracking while viewing emotional faces. RESULTS: We observed potential differences between CDD and other forms of ASD. WES and CNV analyses identified one or more rare de novo, homozygous, and/or hemizygous (mother-to-son transmission on chrX) variants for most probands that were not shared by unaffected sibling controls. There were no clearly deleterious variants or highly recurrent candidate genes. Candidate genes that were found to be most conserved at variant position and most intolerant of variation, such as TRRAP, ZNF236, and KIAA2018, play a role or may be involved in transcription. Using the human BrainSpan transcriptome dataset, CDD candidate genes were found to be more highly expressed in non-neocortical regions than neocortical regions. This expression profile was similar to that of an independent cohort of ASD probands with regression. The non-neocortical regions overlapped with those identified by fMRI as abnormally hyperactive in response to viewing faces, such as the thalamus, cerebellum, caudate, and hippocampus. Eye-tracking analysis showed that, among individuals with ASD, subjects with CDD focused on eyes the most when shown pictures of faces. CONCLUSIONS: Given that cohort sizes were limited by the rarity of CDD, and the challenges of conducting non-sedated fMRI and eye tracking in subjects with ASD and significant ID, this is an exploratory study designed to investigate the neurobiological features of CDD. In addition to reporting the first multimodal analysis of CDD, a combination of fMRI and eye-tracking analyses are being presented for the first time for low-functioning individuals with ASD. Our results suggest differences between CDD and other forms of ASD on the neurobiological as well as clinical level. En ligne : http://dx.doi.org/10.1186/s13229-017-0133-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=330

A randomized double-blind, placebo-controlled trial of ganaxolone in children and adolescents with fragile X syndrome / A. LIGSAY in Journal of Neurodevelopmental Disorders, 9-1 (December 2017)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.26 Titre : A randomized double-blind, placebo-controlled trial of ganaxolone in children and adolescents with fragile X syndrome Type de document : Texte imprimé et/ou numérique Auteurs : A. LIGSAY, Auteur ; A. VAN DIJCK, Auteur ; D. V. NGUYEN, Auteur ; R. LOZANO, Auteur ; Y. CHEN, Auteur ; E. S. BICKEL, Auteur ; D. HESSL, Auteur ; A. SCHNEIDER, Auteur ; Kathleen ANGKUSTSIRI, Auteur ; F. TASSONE, Auteur ; B. CEULEMANS, Auteur ; R. F. KOOY, Auteur ; Randi J. HAGERMAN, Auteur Article en page(s) : p.26 Langues : Anglais (eng) Mots-clés : Adolescents  Children  Clinical trial  Fragile X syndrome  Ganaxolone Index. décimale : PER Périodiques Résumé : BACKGROUND: Gamma-aminobutyric acid (GABA) system deficits are integral to the pathophysiologic development of fragile X syndrome (FXS). Ganaxolone, a GABAA receptor positive allosteric modulator, is hypothesized to improve symptoms such as anxiety, hyperactivity, and attention deficits in children with FXS. METHODS: This study was a randomized, double-blind, placebo-controlled, crossover trial of ganaxolone in children with FXS, aged 6-17 years. RESULTS: Sixty-one participants were assessed for eligibility, and 59 were randomized to the study. Fifty-five participants completed at least the first arm and were included in the intention-to-treat analysis; 51 participants completed both treatment arms. There were no statistically significant improvements observed on the primary outcome measure (Clinical Global Impression-Improvement), the key secondary outcome measure (Pediatric Anxiety Rating Scale-R), or any other secondary outcome measures in the overall study population. However, post-hoc analyses revealed positive trends in areas of anxiety, attention, and hyperactivity in participants with higher baseline anxiety and low full-scale IQ scores. No serious adverse events (AEs) occurred, although there was a significant increase in the frequency and severity of AEs related to ganaxolone compared to placebo. CONCLUSIONS: While ganaxolone was found to be safe, there were no significant improvements in the outcome measures in the overall study population. However, ganaxolone in subgroups of children with FXS, including those with higher anxiety or lower cognitive abilities, might have beneficial effects. TRIAL REGISTRATION: ClinicalTrials.gov, NCT01725152. En ligne : http://dx.doi.org/10.1186/s11689-017-9207-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350 [article] A randomized double-blind, placebo-controlled trial of ganaxolone in children and adolescents with fragile X syndrome [Texte imprimé et/ou numérique] / A. LIGSAY, Auteur ; A. VAN DIJCK, Auteur ; D. V. NGUYEN, Auteur ; R. LOZANO, Auteur ; Y. CHEN, Auteur ; E. S. BICKEL, Auteur ; D. HESSL, Auteur ; A. SCHNEIDER, Auteur ; Kathleen ANGKUSTSIRI, Auteur ; F. TASSONE, Auteur ; B. CEULEMANS, Auteur ; R. F. KOOY, Auteur ; Randi J. HAGERMAN, Auteur . - p.26. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.26 Mots-clés : Adolescents  Children  Clinical trial  Fragile X syndrome  Ganaxolone Index. décimale : PER Périodiques Résumé : BACKGROUND: Gamma-aminobutyric acid (GABA) system deficits are integral to the pathophysiologic development of fragile X syndrome (FXS). Ganaxolone, a GABAA receptor positive allosteric modulator, is hypothesized to improve symptoms such as anxiety, hyperactivity, and attention deficits in children with FXS. METHODS: This study was a randomized, double-blind, placebo-controlled, crossover trial of ganaxolone in children with FXS, aged 6-17 years. RESULTS: Sixty-one participants were assessed for eligibility, and 59 were randomized to the study. Fifty-five participants completed at least the first arm and were included in the intention-to-treat analysis; 51 participants completed both treatment arms. There were no statistically significant improvements observed on the primary outcome measure (Clinical Global Impression-Improvement), the key secondary outcome measure (Pediatric Anxiety Rating Scale-R), or any other secondary outcome measures in the overall study population. However, post-hoc analyses revealed positive trends in areas of anxiety, attention, and hyperactivity in participants with higher baseline anxiety and low full-scale IQ scores. No serious adverse events (AEs) occurred, although there was a significant increase in the frequency and severity of AEs related to ganaxolone compared to placebo. CONCLUSIONS: While ganaxolone was found to be safe, there were no significant improvements in the outcome measures in the overall study population. However, ganaxolone in subgroups of children with FXS, including those with higher anxiety or lower cognitive abilities, might have beneficial effects. TRIAL REGISTRATION: ClinicalTrials.gov, NCT01725152. En ligne : http://dx.doi.org/10.1186/s11689-017-9207-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350

A solution to limitations of cognitive testing in children with intellectual disabilities: the case of fragile X syndrome / D. HESSL in Journal of Neurodevelopmental Disorders, 1-1 (March 2009)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 1-1 (March 2009) . - p.33-45 Titre : A solution to limitations of cognitive testing in children with intellectual disabilities: the case of fragile X syndrome Type de document : Texte imprimé et/ou numérique Auteurs : D. HESSL, Auteur ; D. V. NGUYEN, Auteur ; C. GREEN, Auteur ; Alyssa D. CHAVEZ, Auteur ; F. TASSONE, Auteur ; Randi J. HAGERMAN, Auteur ; D. SENTURK, Auteur ; A. SCHNEIDER, Auteur ; A. LIGHTBODY, Auteur ; A. L. REISS, Auteur ; S. HALL, Auteur Article en page(s) : p.33-45 Langues : Anglais (eng) Mots-clés : Assessment  FMR1 gene  Fmrp  Iq  Mental retardation Index. décimale : PER Périodiques Résumé : Intelligence testing in children with intellectual disabilities (ID) has significant limitations. The normative samples of widely used intelligence tests, such as the Wechsler Intelligence Scales, rarely include an adequate number of subjects with ID needed to provide sensitive measurement in the very low ability range, and they are highly subject to floor effects. The IQ measurement problems in these children prevent characterization of strengths and weaknesses, poorer estimates of cognitive abilities in research applications, and in clinical settings, limited utility for assessment, prognosis estimation, and planning intervention. Here, we examined the sensitivity of the Wechsler Intelligence Scale for Children (WISC-III) in a large sample of children with fragile X syndrome (FXS), the most common cause of inherited ID. The WISC-III was administered to 217 children with FXS (age 6-17 years, 83 girls and 134 boys). Using raw norms data obtained with permission from the Psychological Corporation, we calculated normalized scores representing each participant's actual deviation from the standardization sample using a z-score transformation. To validate this approach, we compared correlations between the new normalized scores versus the usual standard scores with a measure of adaptive behavior (Vineland Adaptive Behavior Scales) and with a genetic measure specific to FXS (FMR1 protein or FMRP). The distribution of WISC-III standard scores showed significant skewing with floor effects in a high proportion of participants, especially males (64.9%-94.0% across subtests). With the z-score normalization, the flooring problems were eliminated and scores were normally distributed. Furthermore, we found correlations between cognitive performance and adaptive behavior, and between cognition and FMRP that were very much improved when using these normalized scores in contrast to the usual standardized scores. The results of this study show that meaningful variation in intellectual ability in children with FXS, and probably other populations of children with neurodevelopmental disorders, is obscured by the usual translation of raw scores into standardized scores. A method of raw score transformation may improve the characterization of cognitive functioning in ID populations, especially for research applications. En ligne : http://dx.doi.org/10.1007/s11689-008-9001-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=341 [article] A solution to limitations of cognitive testing in children with intellectual disabilities: the case of fragile X syndrome [Texte imprimé et/ou numérique] / D. HESSL, Auteur ; D. V. NGUYEN, Auteur ; C. GREEN, Auteur ; Alyssa D. CHAVEZ, Auteur ; F. TASSONE, Auteur ; Randi J. HAGERMAN, Auteur ; D. SENTURK, Auteur ; A. SCHNEIDER, Auteur ; A. LIGHTBODY, Auteur ; A. L. REISS, Auteur ; S. HALL, Auteur . - p.33-45. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 1-1 (March 2009) . - p.33-45 Mots-clés : Assessment  FMR1 gene  Fmrp  Iq  Mental retardation Index. décimale : PER Périodiques Résumé : Intelligence testing in children with intellectual disabilities (ID) has significant limitations. The normative samples of widely used intelligence tests, such as the Wechsler Intelligence Scales, rarely include an adequate number of subjects with ID needed to provide sensitive measurement in the very low ability range, and they are highly subject to floor effects. The IQ measurement problems in these children prevent characterization of strengths and weaknesses, poorer estimates of cognitive abilities in research applications, and in clinical settings, limited utility for assessment, prognosis estimation, and planning intervention. Here, we examined the sensitivity of the Wechsler Intelligence Scale for Children (WISC-III) in a large sample of children with fragile X syndrome (FXS), the most common cause of inherited ID. The WISC-III was administered to 217 children with FXS (age 6-17 years, 83 girls and 134 boys). Using raw norms data obtained with permission from the Psychological Corporation, we calculated normalized scores representing each participant's actual deviation from the standardization sample using a z-score transformation. To validate this approach, we compared correlations between the new normalized scores versus the usual standard scores with a measure of adaptive behavior (Vineland Adaptive Behavior Scales) and with a genetic measure specific to FXS (FMR1 protein or FMRP). The distribution of WISC-III standard scores showed significant skewing with floor effects in a high proportion of participants, especially males (64.9%-94.0% across subtests). With the z-score normalization, the flooring problems were eliminated and scores were normally distributed. Furthermore, we found correlations between cognitive performance and adaptive behavior, and between cognition and FMRP that were very much improved when using these normalized scores in contrast to the usual standardized scores. The results of this study show that meaningful variation in intellectual ability in children with FXS, and probably other populations of children with neurodevelopmental disorders, is obscured by the usual translation of raw scores into standardized scores. A method of raw score transformation may improve the characterization of cognitive functioning in ID populations, especially for research applications. En ligne : http://dx.doi.org/10.1007/s11689-008-9001-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=341

The cognitive neuropsychological phenotype of carriers of the FMR1 premutation / J. GRIGSBY in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)  

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The NIH Toolbox Cognitive Battery for intellectual disabilities: three preliminary studies and future directions / D. HESSL in Journal of Neurodevelopmental Disorders, 8-1 (December 2016)  

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