Diagnoses and characteristics of autism spectrum disorders in children with Prader-Willi syndrome / E. M. DYKENS in Journal of Neurodevelopmental Disorders, 9-1 (December 2017)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.18 Titre : Diagnoses and characteristics of autism spectrum disorders in children with Prader-Willi syndrome Type de document : Texte imprimé et/ou numérique Auteurs : E. M. DYKENS, Auteur ; E. ROOF, Auteur ; Hailee HUNT-HAWKINS, Auteur ; N. DANKNER, Auteur ; E. B. LEE, Auteur ; C. M. SHIVERS, Auteur ; C. DANIELL, Auteur ; S. J. KIM, Auteur Article en page(s) : p.18 Langues : Anglais (eng) Mots-clés : ASD screeners  Autism spectrum disorder (ASD)  Best-estimate diagnoses  Insistence on sameness  Prader-Willi syndrome (PWS)  Repetitive behavior  Social impairment Index. décimale : PER Périodiques Résumé : BACKGROUND: A small percentage of people with autism spectrum disorders (ASD) have alterations in chromosome 15q11.2-q3, the critical region for Prader-Willi syndrome (PWS). Data are limited, however, on the rates and characteristics of ASD in PWS. Previous estimates of ASD in PWS (25 to 41%) are questionable as they are based solely on autism screeners given to parents. Inaccurate diagnoses of ASD in PWS can mislead intervention and future research. METHODS: One hundred forty-six children and youth with PWS aged 4 to 21 years (M = 11) were assessed with the Autism Diagnostic Observation Schedule-2 (ADOS-2). An expert clinical team-made best-estimate ASD diagnoses based on ADOS-2 videotapes, calibrated severity scores, and children's developmental histories and indices of current functioning. Children were also administered the Kaufman Brief Intelligence Test-2, and parents completed the Repetitive Behavior Scale-Revised and Vineland Adaptive Behavior Scales. Scores were compared across children with PWS + ASD versus PWS only. The performance of an ASD screener, the Social Communication Questionnaire (SCQ) and the ADOS-2 were evaluated in relation to best-estimate diagnoses. RESULTS: Best-estimate diagnoses of ASD were made in 18 children, or 12.3% of the sample, and the majority of them had the maternal uniparental disomy (mUPD) PWS genetic subtype. Compared to the PWS-only group, children with PWS + ASD had lower verbal and composite IQ's and adaptive daily living and socialization skills, as well as elevated stereotypies and restricted interests. Regardless of ASD status, compulsivity and insistence on sameness in routines or events were seen in 76-100% of children and were robustly correlated with lower adaptive functioning. The SCQ yielded a 29-49% chance that screen-positive cases will indeed have ASD. The ADOS-2 had higher sensitivity, specificity and predictive values. Communication problems were seen in children who were ADOS-2 positive but deemed not to have ASD by the clinical team. CONCLUSIONS: Autism screeners should not be the sole index of probable ASD in PWS; children need to be directly observed and evaluated. Compulsivity and insistence on sameness are salient in PWS and likely impede adaptive functioning. Most children with PWS only evidenced sub-threshold problems in social interactions that could signal risks for other psychopathologies. En ligne : http://dx.doi.org/10.1186/s11689-017-9200-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350 [article] Diagnoses and characteristics of autism spectrum disorders in children with Prader-Willi syndrome [Texte imprimé et/ou numérique] / E. M. DYKENS, Auteur ; E. ROOF, Auteur ; Hailee HUNT-HAWKINS, Auteur ; N. DANKNER, Auteur ; E. B. LEE, Auteur ; C. M. SHIVERS, Auteur ; C. DANIELL, Auteur ; S. J. KIM, Auteur . - p.18. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.18 Mots-clés : ASD screeners  Autism spectrum disorder (ASD)  Best-estimate diagnoses  Insistence on sameness  Prader-Willi syndrome (PWS)  Repetitive behavior  Social impairment Index. décimale : PER Périodiques Résumé : BACKGROUND: A small percentage of people with autism spectrum disorders (ASD) have alterations in chromosome 15q11.2-q3, the critical region for Prader-Willi syndrome (PWS). Data are limited, however, on the rates and characteristics of ASD in PWS. Previous estimates of ASD in PWS (25 to 41%) are questionable as they are based solely on autism screeners given to parents. Inaccurate diagnoses of ASD in PWS can mislead intervention and future research. METHODS: One hundred forty-six children and youth with PWS aged 4 to 21 years (M = 11) were assessed with the Autism Diagnostic Observation Schedule-2 (ADOS-2). An expert clinical team-made best-estimate ASD diagnoses based on ADOS-2 videotapes, calibrated severity scores, and children's developmental histories and indices of current functioning. Children were also administered the Kaufman Brief Intelligence Test-2, and parents completed the Repetitive Behavior Scale-Revised and Vineland Adaptive Behavior Scales. Scores were compared across children with PWS + ASD versus PWS only. The performance of an ASD screener, the Social Communication Questionnaire (SCQ) and the ADOS-2 were evaluated in relation to best-estimate diagnoses. RESULTS: Best-estimate diagnoses of ASD were made in 18 children, or 12.3% of the sample, and the majority of them had the maternal uniparental disomy (mUPD) PWS genetic subtype. Compared to the PWS-only group, children with PWS + ASD had lower verbal and composite IQ's and adaptive daily living and socialization skills, as well as elevated stereotypies and restricted interests. Regardless of ASD status, compulsivity and insistence on sameness in routines or events were seen in 76-100% of children and were robustly correlated with lower adaptive functioning. The SCQ yielded a 29-49% chance that screen-positive cases will indeed have ASD. The ADOS-2 had higher sensitivity, specificity and predictive values. Communication problems were seen in children who were ADOS-2 positive but deemed not to have ASD by the clinical team. CONCLUSIONS: Autism screeners should not be the sole index of probable ASD in PWS; children need to be directly observed and evaluated. Compulsivity and insistence on sameness are salient in PWS and likely impede adaptive functioning. Most children with PWS only evidenced sub-threshold problems in social interactions that could signal risks for other psychopathologies. En ligne : http://dx.doi.org/10.1186/s11689-017-9200-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350

Differences in age-related effects on brain volume in Down syndrome as compared to Williams syndrome and typical development / M. E. KORAN in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.8 Titre : Differences in age-related effects on brain volume in Down syndrome as compared to Williams syndrome and typical development Type de document : Texte imprimé et/ou numérique Auteurs : M. E. KORAN, Auteur ; T. J. HOHMAN, Auteur ; C. M. EDWARDS, Auteur ; J. N. VEGA, Auteur ; J. R. PRYWELLER, Auteur ; L. E. SLOSKY, Auteur ; G. CROCKETT, Auteur ; L. VILLA DE REY, Auteur ; S. A. MEDA, Auteur ; N. DANKNER, Auteur ; S. N. AVERY, Auteur ; J. U. BLACKFORD, Auteur ; E. M. DYKENS, Auteur ; T. A. THORNTON-WELLS, Auteur Article en page(s) : p.8 Langues : Anglais (eng) Mots-clés : Apoe  Accelerated aging  Alzheimer's disease  Brain volume  Down syndrome  Mri  Neurodevelopmental disorder  Neuroimaging genetics  Williams syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND: Individuals with Down Syndrome (DS) are reported to experience early onset of brain aging. However, it is not well understood how pre-existing neurodevelopmental effects versus neurodegenerative processes might be contributing to the observed pattern of brain atrophy in younger adults with DS. The aims of the current study were to: (1) to confirm previous findings of age-related changes in DS compared to adults with typical development (TD), (2) to test for an effect of these age-related changes in a second neurodevelopmental disorder, Williams syndrome (WS), and (3) to identify a pattern of regional age-related effects that are unique to DS. METHODS: High-resolution T1-weighted MRI of the brains of subjects with DS, WS, and TD controls were segmented, and estimates of regional brain volume were derived using FreeSurfer. A general linear model was employed to test for age-related effects on volume between groups. Secondary analyses in the DS group explored the relationship between brain volume and neuropsychological tests and APOE. RESULTS: Consistent with previous findings, the DS group showed significantly greater age-related effects relative to TD controls in total gray matter and in regions of the orbitofrontal cortex and the parietal cortex. Individuals with DS also showed significantly greater age-related effects on volume of the left and right inferior lateral ventricles (LILV and RILV, respectively). There were no significant differences in age-related effects on volume when comparing the WS and TD groups. In the DS group, cognitive tests scores measuring signs of dementia and APOE 4 carrier status were associated with LILV and RILV volume. CONCLUSIONS: Individuals with DS demonstrated a unique pattern of age-related effects on gray matter and ventricular volume, the latter of which was associated with dementia rating scores in the DS group. Results may indicate that early onset of brain aging in DS is primarily due to DS-specific neurodegenerative processes, as opposed to general atypical neurodevelopment. En ligne : http://dx.doi.org/10.1186/1866-1955-6-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346 [article] Differences in age-related effects on brain volume in Down syndrome as compared to Williams syndrome and typical development [Texte imprimé et/ou numérique] / M. E. KORAN, Auteur ; T. J. HOHMAN, Auteur ; C. M. EDWARDS, Auteur ; J. N. VEGA, Auteur ; J. R. PRYWELLER, Auteur ; L. E. SLOSKY, Auteur ; G. CROCKETT, Auteur ; L. VILLA DE REY, Auteur ; S. A. MEDA, Auteur ; N. DANKNER, Auteur ; S. N. AVERY, Auteur ; J. U. BLACKFORD, Auteur ; E. M. DYKENS, Auteur ; T. A. THORNTON-WELLS, Auteur . - p.8. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.8 Mots-clés : Apoe  Accelerated aging  Alzheimer's disease  Brain volume  Down syndrome  Mri  Neurodevelopmental disorder  Neuroimaging genetics  Williams syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND: Individuals with Down Syndrome (DS) are reported to experience early onset of brain aging. However, it is not well understood how pre-existing neurodevelopmental effects versus neurodegenerative processes might be contributing to the observed pattern of brain atrophy in younger adults with DS. The aims of the current study were to: (1) to confirm previous findings of age-related changes in DS compared to adults with typical development (TD), (2) to test for an effect of these age-related changes in a second neurodevelopmental disorder, Williams syndrome (WS), and (3) to identify a pattern of regional age-related effects that are unique to DS. METHODS: High-resolution T1-weighted MRI of the brains of subjects with DS, WS, and TD controls were segmented, and estimates of regional brain volume were derived using FreeSurfer. A general linear model was employed to test for age-related effects on volume between groups. Secondary analyses in the DS group explored the relationship between brain volume and neuropsychological tests and APOE. RESULTS: Consistent with previous findings, the DS group showed significantly greater age-related effects relative to TD controls in total gray matter and in regions of the orbitofrontal cortex and the parietal cortex. Individuals with DS also showed significantly greater age-related effects on volume of the left and right inferior lateral ventricles (LILV and RILV, respectively). There were no significant differences in age-related effects on volume when comparing the WS and TD groups. In the DS group, cognitive tests scores measuring signs of dementia and APOE 4 carrier status were associated with LILV and RILV volume. CONCLUSIONS: Individuals with DS demonstrated a unique pattern of age-related effects on gray matter and ventricular volume, the latter of which was associated with dementia rating scores in the DS group. Results may indicate that early onset of brain aging in DS is primarily due to DS-specific neurodegenerative processes, as opposed to general atypical neurodevelopment. En ligne : http://dx.doi.org/10.1186/1866-1955-6-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346

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