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

Electrophysiological study of local/global processing in Williams syndrome / A. P. KEY in Journal of Neurodevelopmental Disorders, 3-1 (March 2011)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 3-1 (March 2011) . - p.28-38 Titre : Electrophysiological study of local/global processing in Williams syndrome Type de document : Texte imprimé et/ou numérique Auteurs : A. P. KEY, Auteur ; E. M. DYKENS, Auteur Article en page(s) : p.28-38 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Persons with Williams syndrome (WS) demonstrate pronounced deficits in visuo-spatial processing. The purpose of the current study was to examine the preferred level of perceptual analysis in young adults with WS (n = 21) and the role of attention in the processing of hierarchical stimuli. Navon-like letter stimuli were presented to adults with WS and age-matched typical controls in an oddball paradigm where local and global targets could appear with equal probability. Participants received no explicit instruction to direct their attention toward a particular stimulus level. Behavioral and event-related potential (ERP) data were recorded. Behavioral data indicated presence of a global precedence effect in persons with WS. However, their ERP responses revealed atypical brain mechanisms underlying attention to local information. During the early perceptual analysis, global targets resulted in reduced P1 and enhanced N150 responses in both participant groups. However, only the typical comparison group demonstrated a larger N150 to local targets. At the more advanced stages of cognitive processing, a larger P3b response to global and local targets was observed in the typical group but not in persons with WS, who instead demonstrated an enhanced P3a to global targets only. The results indicate that in a perceptual task, adults with WS may experience greater than typical global-to-local interference and not allocate sufficient attentional resources to local information. En ligne : http://dx.doi.org/10.1007/s11689-010-9064-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343 [article] Electrophysiological study of local/global processing in Williams syndrome [Texte imprimé et/ou numérique] / A. P. KEY, Auteur ; E. M. DYKENS, Auteur . - p.28-38. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 3-1 (March 2011) . - p.28-38 Index. décimale : PER Périodiques Résumé : Persons with Williams syndrome (WS) demonstrate pronounced deficits in visuo-spatial processing. The purpose of the current study was to examine the preferred level of perceptual analysis in young adults with WS (n = 21) and the role of attention in the processing of hierarchical stimuli. Navon-like letter stimuli were presented to adults with WS and age-matched typical controls in an oddball paradigm where local and global targets could appear with equal probability. Participants received no explicit instruction to direct their attention toward a particular stimulus level. Behavioral and event-related potential (ERP) data were recorded. Behavioral data indicated presence of a global precedence effect in persons with WS. However, their ERP responses revealed atypical brain mechanisms underlying attention to local information. During the early perceptual analysis, global targets resulted in reduced P1 and enhanced N150 responses in both participant groups. However, only the typical comparison group demonstrated a larger N150 to local targets. At the more advanced stages of cognitive processing, a larger P3b response to global and local targets was observed in the typical group but not in persons with WS, who instead demonstrated an enhanced P3a to global targets only. The results indicate that in a perceptual task, adults with WS may experience greater than typical global-to-local interference and not allocate sufficient attentional resources to local information. En ligne : http://dx.doi.org/10.1007/s11689-010-9064-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343

Prader-Willi syndrome and autism spectrum disorders: an evolving story / E. M. DYKENS in Journal of Neurodevelopmental Disorders, 3-3 (September 2011)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 3-3 (September 2011) . - p.225-37 Titre : Prader-Willi syndrome and autism spectrum disorders: an evolving story Type de document : Texte imprimé et/ou numérique Auteurs : E. M. DYKENS, Auteur ; E. LEE, Auteur ; E. ROOF, Auteur Article en page(s) : p.225-37 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Prader-Willi syndrome (PWS) is well-known for its genetic and phenotypic complexities. Caused by a lack of paternally derived imprinted material on chromosome 15q11-q13, individuals with PWS have mild to moderate intellectual disabilities, repetitive and compulsive behaviors, skin picking, tantrums, irritability, hyperphagia, and increased risks of obesity. Many individuals also have co-occurring autism spectrum disorders (ASDs), psychosis, and mood disorders. Although the PWS 15q11-q13 region confers risks for autism, relatively few studies have assessed autism symptoms in PWS or directly compared social, behavioral, and cognitive functioning across groups with autism or PWS. This article identifies areas of phenotypic overlap and difference between PWS and ASD in core autism symptoms and in such comorbidities as psychiatric disorders, and dysregulated sleep and eating. Though future studies are needed, PWS provides a promising alternative lens into specific symptoms and comorbidities of autism. En ligne : http://dx.doi.org/10.1007/s11689-011-9092-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343 [article] Prader-Willi syndrome and autism spectrum disorders: an evolving story [Texte imprimé et/ou numérique] / E. M. DYKENS, Auteur ; E. LEE, Auteur ; E. ROOF, Auteur . - p.225-37. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 3-3 (September 2011) . - p.225-37 Index. décimale : PER Périodiques Résumé : Prader-Willi syndrome (PWS) is well-known for its genetic and phenotypic complexities. Caused by a lack of paternally derived imprinted material on chromosome 15q11-q13, individuals with PWS have mild to moderate intellectual disabilities, repetitive and compulsive behaviors, skin picking, tantrums, irritability, hyperphagia, and increased risks of obesity. Many individuals also have co-occurring autism spectrum disorders (ASDs), psychosis, and mood disorders. Although the PWS 15q11-q13 region confers risks for autism, relatively few studies have assessed autism symptoms in PWS or directly compared social, behavioral, and cognitive functioning across groups with autism or PWS. This article identifies areas of phenotypic overlap and difference between PWS and ASD in core autism symptoms and in such comorbidities as psychiatric disorders, and dysregulated sleep and eating. Though future studies are needed, PWS provides a promising alternative lens into specific symptoms and comorbidities of autism. En ligne : http://dx.doi.org/10.1007/s11689-011-9092-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343

Psychiatric disorders in adolescents and young adults with Down syndrome and other intellectual disabilities / E. M. DYKENS in Journal of Neurodevelopmental Disorders, 7-1 (December 2015)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.9 Titre : Psychiatric disorders in adolescents and young adults with Down syndrome and other intellectual disabilities Type de document : Texte imprimé et/ou numérique Auteurs : E. M. DYKENS, Auteur ; B. SHAH, Auteur ; B. DAVIS, Auteur ; C. BAKER, Auteur ; T. FIFE, Auteur ; J. FITZPATRICK, Auteur Article en page(s) : p.9 Langues : Anglais (eng) Mots-clés : Catatonia  Depression  Down syndrome  Intellectual disabilities  Psychosis Index. décimale : PER Périodiques Résumé : BACKGROUND: Relative to other aspects of Down syndrome, remarkably little is known about the psychiatric problems experienced by youth and young adults with this syndrome and if these problems differ from others with intellectual disabilities. Yet adolescence and young adulthood are particularly vulnerable time periods, as they involve multiple life transitions in educational, medical, and other service systems. METHODS: This study compared the psychiatric diagnoses of 49 adolescent and young adult patients with Down syndrome to 70 patients with other intellectual disabilities (IDs). The groups were similar in age, gender, and level of intellectual impairment. The 119 participants, aged 13 to 29 years (M = 21) were evaluated in one of two specialized psychiatric clinics. RESULTS: In contrast to previous literature, those with Down syndrome versus other IDs had significantly higher rates of psychosis NOS or depression with psychotic features (43% versus 13%). Unlike the ID group, psychosis was predominantly seen in females with Down syndrome. Marked motoric slowing in performing routine daily activities or in expressive language was manifested in 17% of patients with Down syndrome. No group differences were found in anxiety or depressive disorders, and the ID group had significantly higher rates of bipolar and impulse control disorders. CONCLUSIONS: These preliminary observations warrant further studies on genetic, neurological, and psychosocial factors that place some young people with Down syndrome or other IDs at high risk for severe psychiatric illness. En ligne : http://dx.doi.org/10.1186/s11689-015-9101-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347 [article] Psychiatric disorders in adolescents and young adults with Down syndrome and other intellectual disabilities [Texte imprimé et/ou numérique] / E. M. DYKENS, Auteur ; B. SHAH, Auteur ; B. DAVIS, Auteur ; C. BAKER, Auteur ; T. FIFE, Auteur ; J. FITZPATRICK, Auteur . - p.9. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.9 Mots-clés : Catatonia  Depression  Down syndrome  Intellectual disabilities  Psychosis Index. décimale : PER Périodiques Résumé : BACKGROUND: Relative to other aspects of Down syndrome, remarkably little is known about the psychiatric problems experienced by youth and young adults with this syndrome and if these problems differ from others with intellectual disabilities. Yet adolescence and young adulthood are particularly vulnerable time periods, as they involve multiple life transitions in educational, medical, and other service systems. METHODS: This study compared the psychiatric diagnoses of 49 adolescent and young adult patients with Down syndrome to 70 patients with other intellectual disabilities (IDs). The groups were similar in age, gender, and level of intellectual impairment. The 119 participants, aged 13 to 29 years (M = 21) were evaluated in one of two specialized psychiatric clinics. RESULTS: In contrast to previous literature, those with Down syndrome versus other IDs had significantly higher rates of psychosis NOS or depression with psychotic features (43% versus 13%). Unlike the ID group, psychosis was predominantly seen in females with Down syndrome. Marked motoric slowing in performing routine daily activities or in expressive language was manifested in 17% of patients with Down syndrome. No group differences were found in anxiety or depressive disorders, and the ID group had significantly higher rates of bipolar and impulse control disorders. CONCLUSIONS: These preliminary observations warrant further studies on genetic, neurological, and psychosocial factors that place some young people with Down syndrome or other IDs at high risk for severe psychiatric illness. En ligne : http://dx.doi.org/10.1186/s11689-015-9101-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347

Social and emotional processing in Prader-Willi syndrome: genetic subtype differences / A. P. KEY in Journal of Neurodevelopmental Disorders, 5-1 (December 2013)  

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The effect of intellectual ability on functional activation in a neurodevelopmental disorder: preliminary evidence from multiple fMRI studies in Williams syndrome / J. R. PRYWELLER in Journal of Neurodevelopmental Disorders, 4-1 (December 2012)  

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