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1.
J Atten Disord ; 25(8): 1146-1159, 2021 06.
Artigo em Inglês | MEDLINE | ID: mdl-31718386

RESUMO

Objective: This randomized controlled trial evaluated the efficacy of attention training delivered in class on cognitive attention processes, inattention, hyperactivity, working memory, and numeracy in primary school children. Method: Eight classes (n = 98 children; 5-9 years) were cluster randomized to gamified attention training, a placebo program, or a no-contact control condition. Assessments were conducted at baseline, immediately after the 5-week intervention (posttraining), and 6 months later (follow-up). Results: Posttraining, attention training was associated with reduced inattention and hyperactivity within the classroom compared with controls, and reduced hyperactivity at home compared with the no-contact control. At follow-up, reduced hyperactivity within the classroom compared with the no-contact control persisted. No effects of training on cognitive attention processes, working memory, and numeracy were observed posttraining. Conclusion: Classroom-based attention training has select benefits in reducing inattention and hyperactivity, but may not promote gains in cognitive or academic skills in primary school children.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade , Atenção , Transtorno do Deficit de Atenção com Hiperatividade/terapia , Criança , Cognição , Humanos , Memória de Curto Prazo , Instituições Acadêmicas
2.
Child Neuropsychol ; 26(5): 666-690, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-31833444

RESUMO

A new variation of the Attention Network Task (ANT) was designed to measure the functioning of and interactions between the alerting, exogenous and endogenous visual spatial orienting, and executive control systems in young school children. Previous research has produced mixed results regarding typical functioning of the attention networks in six-year-olds; no ANT has measured the functioning of the endogenous network. This Staged ANT tested the Alerting, Exogenous, and Endogenous orienting networks in separate conditions. Two hundred and forty-seven children (average age 6 years, 103 girls) completed the task. There was no clear benefit of the alerting cue until the spatial orienting cues were introduced into the task, suggesting task complexity was needed before alerting benefits were observed. The validity effect of the exogenous cue was very strong: in contrast, the validity effect of the endogenous cue was very weak. The flanker effect was very strong. A benefit of the alerting cue was shown during both the exogenous and endogenous conditions, while a cost of the alerting cue was shown during the invalid exogenous trials. Neither the alerting nor validity effects interacted with the flanker effect. These results suggest that the alerting cue primes the exogenous and endogenous systems for the upcoming cues. Once the complexity of the task increases with the addition of the flankers, the alerting effect attenuates. The alerting and the two orienting networks interact together but the executive attention network acts independently, in children aged 6 years.


Assuntos
Atenção/fisiologia , Função Executiva/fisiologia , Orientação/fisiologia , Criança , Sinais (Psicologia) , Feminino , Humanos
3.
Brain Imaging Behav ; 13(4): 1128-1134, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-30046972

RESUMO

Fragile X-associated tremor ataxia syndrome is an inherited neurodegenerative disorder caused by premutation expansions (55-200 CGG repeats) of the FMR1 gene. There is accumulating evidence to suggest that early cognitive and brain imaging signs may be observed in some premutation carriers without motor signs of FXTAS, but few studies have examined the relationships between subcortical brain volumes and cognitive performance in this group. This study examined the relationships between caudate volume and select cognitive measures (executive function and information processing speed) in men at risk of developing FXTAS and controls with normal FMR1 alleles (<45 CGG repeats). The results showed that men with premutation alleles performed worse on measures of executive function and information processing speed, and had significantly reduced caudate volume, compared to controls. Smaller caudate volume in the premutation group was associated with slower processing speed. These findings provide preliminary evidence that early reductions in caudate volume may be associated with cognitive slowing in men with the premutation who do not present with cardinal motor signs of FXTAS. If confirmed in future studies with larger PM cohorts, these findings will have important implications for the identification of sensitive measures with potential utility for tracking cognitive decline.


Assuntos
Ataxia/fisiopatologia , Núcleo Caudado/fisiologia , Cognição/fisiologia , Síndrome do Cromossomo X Frágil/fisiopatologia , Tremor/fisiopatologia , Adulto , Idoso , Alelos , Função Executiva , Proteína do X Frágil de Retardo Mental/genética , Proteína do X Frágil de Retardo Mental/fisiologia , Frequência do Gene/genética , Humanos , Masculino , Memória de Curto Prazo/fisiologia , Pessoa de Meia-Idade , Testes Neuropsicológicos , Fatores de Risco , Expansão das Repetições de Trinucleotídeos/genética
4.
PLoS One ; 13(2): e0192151, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29474364

RESUMO

Relationships between Fragile X Mental Retardation 1 (FMR1) mRNA levels in blood and intragenic FMR1 CGG triplet expansions support the pathogenic role of RNA gain of function toxicity in premutation (PM: 55-199 CGGs) related disorders. Real-time PCR (RT-PCR) studies reporting these findings normalised FMR1 mRNA level to a single internal control gene called ß-glucuronidase (GUS). This study evaluated FMR1 mRNA-CGG correlations in 33 PM and 33 age- and IQ-matched control females using three normalisation strategies in peripheral blood mononuclear cells (PBMCs): (i) GUS as a single internal control; (ii) the mean of GUS, Eukaryotic Translation Initiation Factor 4A2 (EIF4A2) and succinate dehydrogenase complex flavoprotein subunit A (SDHA); and (iii) the mean of EIF4A2 and SDHA (with no contribution from GUS). GUS mRNA levels normalised to the mean of EIF4A2 and SDHA mRNA levels and EIF4A2/SDHA ratio were also evaluated. FMR1mRNA level normalised to the mean of EIF4A2 and SDHA mRNA levels, with no contribution from GUS, showed the most significant correlation with CGG size and the greatest difference between PM and control groups (p = 10-11). Only 15% of FMR1 mRNA PM results exceeded the maximum control value when normalised to GUS, compared with over 42% when normalised to the mean of EIF4A2 and SDHA mRNA levels. Neither GUS mRNA level normalised to the mean RNA levels of EIF4A2 and SDHA, nor to the EIF4A2/SDHA ratio were correlated with CGG size. However, greater variability in GUS mRNA levels were observed for both PM and control females across the full range of CGG repeat as compared to the EIF4A2/SDHA ratio. In conclusion, normalisation with multiple control genes, excluding GUS, can improve assessment of the biological significance of FMR1 mRNA-CGG size relationships.


Assuntos
Proteína do X Frágil de Retardo Mental/genética , Glucuronidase/genética , RNA Mensageiro/genética , Fatores de Confusão Epidemiológicos , Humanos , Reação em Cadeia da Polimerase em Tempo Real
5.
Behav Sleep Med ; 16(2): 169-184, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-27254114

RESUMO

The current study assessed the association between anxiety symptoms and sleep in 90 school-aged children, aged 6-12 years (Mage = 108 months, 52.2% male). The Children's Sleep Habits Questionnaire (CSHQ) and 14 nights of actigraphy were used to assess sleep. Anxiety was assessed using the Spence Children's Anxiety Scale (SCAS). A significant association was found between parent-reported anxiety symptoms and current sleep problems (i.e., CSHQ total scores ≥ 41). An examination of SCAS subscales identified a specific association between generalized anxiety disorder (GAD) symptoms and increased parental sleep concerns, including sleep onset delay, sleep duration, and daytime sleepiness. Regarding actigraphy, whilst anxiety was not associated with average sleep variables, a relationship was identified between anxiety and the night-to-night variability of actigraphy-derived sleep schedules.


Assuntos
Actigrafia , Ansiedade/complicações , Ansiedade/fisiopatologia , Hábitos , Transtornos do Sono-Vigília/complicações , Transtornos do Sono-Vigília/psicologia , Sono/fisiologia , Inquéritos e Questionários , Ansiedade/psicologia , Criança , Feminino , Humanos , Masculino , Pais/psicologia , Fases do Sono/fisiologia , Transtornos do Sono-Vigília/fisiopatologia
6.
Autism Res ; 11(2): 391-403, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-29197172

RESUMO

Increased severity of problematic daytime behavior has been associated with poorer sleep quality in individuals with autism spectrum disorder. In this work, we investigate whether this relationship holds in a real-time setting, such that an individual's prior sleep can be used to predict their subsequent daytime behavior. We analyzed an extensive real-world dataset containing over 20,000 nightly sleep observations matched to subsequent challenging daytime behaviors (aggression, self-injury, tantrums, property destruction and a challenging behavior index) across 67 individuals with low-functioning autism living in two U.S. residential facilities. Using support vector machine classifiers, a statistically significant predictive relationship was found in 81% of individuals studied (P < 0.05). For all five behaviors examined, prediction accuracy increased up to approximately eight nights of prior sleep used to make the prediction, indicating that the behavioral effects of sleep may manifest on extended timescales. Accurate prediction was most strongly driven by sleep variability measures, highlighting the importance of regular sleep patterns. Our findings constitute an initial step towards the development of a real-time monitoring tool to pre-empt behavioral episodes and guide prophylactic treatment for individuals with autism. Autism Res 2018, 11: 391-403. © 2017 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: We analyzed over 20,000 nights of sleep from 67 individuals with autism to investigate whether daytime behaviors can be predicted from prior sleep patterns. Better-than-chance accuracy was obtained for 81% of individuals, with measures of night-to-night variation in sleep timing and duration most relevant for accurate prediction. Our results highlight the importance of regular sleep patterns for better daytime functioning and represent a step toward the development of 'smart sleep technologies' to pre-empt behavior in individuals with autism.


Assuntos
Transtorno do Espectro Autista/diagnóstico , Ritmo Circadiano , Deficiência Intelectual/diagnóstico , Comportamento Problema , Transtornos do Sono-Vigília/diagnóstico , Adolescente , Agressão/psicologia , Transtorno do Espectro Autista/psicologia , Criança , Correlação de Dados , Feminino , Humanos , Deficiência Intelectual/psicologia , Masculino , Comportamento Problema/psicologia , Instituições Residenciais , Comportamento Autodestrutivo/diagnóstico , Comportamento Autodestrutivo/psicologia , Transtornos do Sono-Vigília/psicologia , Transtornos do Comportamento Social/diagnóstico , Transtornos do Comportamento Social/psicologia , Adulto Jovem
7.
Sci Rep ; 7(1): 14228, 2017 10 27.
Artigo em Inglês | MEDLINE | ID: mdl-29079761

RESUMO

Despite sleep disturbance being a common complaint in individuals with autism, specific sleep phenotypes and their relationship to adaptive functioning have yet to be identified. This study used cluster analysis to find distinct sleep patterns and relate them to independent measures of adaptive functioning in individuals with autism. Approximately 50,000 nights of care-giver sleep/wake logs were collected on school-days for 106 individuals with low functioning autism (87 boys, 14.77 ± 3.11 years) for 0.5-6 years (2.2 ± 1.5 years) from two residential schools. Using hierarchical cluster analysis, performed on summary statistics of each individual across their recording duration, two clusters of individuals with clearly distinguishable sleep phenotypes were found. The groups were summarized as 'unstable' sleepers (cluster 1, n = 41) and 'stable' sleepers (cluster 2, n = 65), with the former exhibiting reduced sleep duration, earlier sleep offset, and less stability in sleep timing. The sleep clusters displayed significant differences in properties that were not used for clustering, such as intellectual functioning, communication, and socialization, demonstrating that sleep phenotypes are associated with symptom severity in individuals with autism. This study provides foundational evidence for profiling and targeting sleep as a standard part of therapeutic intervention in individuals with autism.


Assuntos
Adaptação Fisiológica , Transtorno Autístico/fisiopatologia , Fenótipo , Sono , Adolescente , Criança , Feminino , Humanos , Masculino , Vigília
8.
Neurology ; 88(22): 2080-2088, 2017 May 30.
Artigo em Inglês | MEDLINE | ID: mdl-28476762

RESUMO

OBJECTIVE: To examine the interrelationships between fragile X mental retardation 1 (FMR1) mRNA and the FMR1 exon 1/intron 1 boundary methylation, white matter microstructure, and executive function, in women with a FMR1 premutation expansion (PM; 55-199 CGG repeats) and controls (CGG < 44). METHODS: Twenty women with PM without fragile X-associated tremor/ataxia syndrome (FXTAS) and 20 control women between 22 and 54 years of age completed this study. FMR1 mRNA and methylation levels for 9 CpG sites within the FMR1 exon 1/intron 1 boundary from peripheral blood samples were analyzed. To measure white matter microstructure, diffusion-weighted imaging was used, from which fractional anisotropy (FA) and mean diffusivity (MD) values from anatomic regions within the corpus callosum and cerebellar peduncles were extracted. Executive function was assessed across a range of tasks. RESULTS: No differences were revealed in white matter microstructure between women with PM and controls. However, we reveal that for women with PM (but not controls), higher FMR1 mRNA correlated with lower MD values within the middle cerebellar peduncle and Paced Auditory Serial Addition Test scores, higher methylation of the FMR1 exon 1/intron 1 boundary correlated with lower MD within the inferior and middle cerebellar peduncles and longer prosaccade latencies, and higher FA values within the corpus callosum and cerebellar peduncle regions corresponded to superior executive function. CONCLUSIONS: We provide evidence linking white matter microstructure to executive dysfunction and elevated FMR1 mRNA and FMR1 exon 1/intron 1 boundary methylation in women with PM without FXTAS. This suggests that the FXTAS phenotype may not be distinct but may form part of a spectrum of PM involvement.


Assuntos
Encéfalo/diagnóstico por imagem , Metilação de DNA , Função Executiva , Proteína do X Frágil de Retardo Mental/sangue , Proteína do X Frágil de Retardo Mental/genética , Substância Branca/diagnóstico por imagem , Adulto , Biomarcadores/sangue , Cognição/fisiologia , Ilhas de CpG , Expansão das Repetições de DNA , Imagem de Difusão por Ressonância Magnética , Função Executiva/fisiologia , Éxons , Feminino , Humanos , Íntrons , Pessoa de Meia-Idade , Testes Neuropsicológicos , RNA Mensageiro/sangue , Adulto Jovem
10.
Autism ; 21(4): 493-503, 2017 05.
Artigo em Inglês | MEDLINE | ID: mdl-27354432

RESUMO

The present study compared the course of parent-report and actigraphy-derived sleep profiles over a 1-year period, in school-age children with autism spectrum disorder and typically developing children. The Children's Sleep Habits Questionnaire and 14 nights of actigraphy were used to assess sleep profiles. Parents also completed the Spence Children's Anxiety Scale, the Social Worries Questionnaire and the Bedtime Routines Questionnaire. Between-group differences in parent-reported sleep problems were less pronounced at follow-up compared to baseline. The course of objective sleep was comparable between groups, with a significant reduction in sleep duration over time in both groups. Children with autism spectrum disorder were further characterised by significantly more night-to-night variability in sleep quality, across both time points. Reductions over time in parent-reported sleep problems were significantly associated with reduced anxiety. Reductions in actigraphy-derived sleep efficiency were associated with an increased frequency of maladaptive activities in the hour before bedtime, in both children with and without autism spectrum disorder.


Assuntos
Ansiedade/epidemiologia , Transtorno do Espectro Autista/psicologia , Higiene do Sono , Actigrafia , Ansiedade/etiologia , Transtorno do Espectro Autista/complicações , Estudos de Casos e Controles , Criança , Feminino , Humanos , Masculino , Pais , Escalas de Graduação Psiquiátrica , Transtornos do Sono-Vigília/epidemiologia , Inquéritos e Questionários
11.
Dev Sci ; 20(6)2017 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-27649816

RESUMO

Despite well-documented attention deficits in children with intellectual and developmental disabilities (IDD), distinctions across types of attention problems and their association with academic attainment has not been fully explored. This study examines visual attention capacities and inattentive/hyperactive behaviours in 77 children aged 4 to 11 years with IDD and elevated behavioural attention difficulties. Children with autism spectrum disorder (ASD; n = 23), Down syndrome (DS; n = 22), and non-specific intellectual disability (NSID; n = 32) completed computerized visual search and vigilance paradigms. In addition, parents and teachers completed rating scales of inattention and hyperactivity. Concurrent associations between attention abilities and early literacy and numeracy skills were also examined. Children completed measures of receptive vocabulary, phonological abilities and cardinality skills. As expected, the results indicated that all groups had relatively comparable levels of inattentive/hyperactive behaviours as rated by parents and teachers. However, the extent of visual attention deficits varied as a result of group; namely children with DS had poorer visual search and vigilance abilities than children with ASD and NSID. Further, significant associations between visual attention difficulties and poorer literacy and numeracy skills were observed, regardless of group. Collectively the findings demonstrate that in children with IDD who present with homogenous behavioural attention difficulties, at the cognitive level, subtle profiles of attentional problems can be delineated.


Assuntos
Desempenho Acadêmico , Transtorno do Deficit de Atenção com Hiperatividade/fisiopatologia , Atenção/fisiologia , Deficiências do Desenvolvimento/fisiopatologia , Transtorno do Espectro Autista/complicações , Criança , Pré-Escolar , Síndrome de Down/complicações , Feminino , Humanos , Modelos Lineares , Masculino , Estimulação Luminosa , Escalas de Wechsler
12.
J Child Psychol Psychiatry ; 57(12): 1380-1389, 2016 12.
Artigo em Inglês | MEDLINE | ID: mdl-27550746

RESUMO

BACKGROUND: Children with intellectual and developmental disabilities (IDD) experience heightened attention difficulties which have been linked to poorer cognitive, academic and social outcomes. Although, increasing research has focused on the potential of computerised cognitive training in reducing attention problems, limited studies have assessed whether this intervention could be utilised for those with IDD. This study aimed to assess the efficacy of a computerised attention training programme in children with IDD. METHODS: In a double-blind randomised controlled trial, children (n = 76; IQ < 75) aged 4-11 years were assigned to an adaptive attention training condition or a nonadaptive control condition. Both conditions were completed at home over a 5-week period and consisted of 25 sessions, each of 20-min duration. Outcome measures (baseline, posttraining and 3-month follow-up) assessed core attention skills (selective attention, sustained attention and attentional control) and inattentive/hyperactive behaviour. RESULTS: Children in the attention training condition showed greater improvement in selective attention performance compared to children in the control condition (SMD = 0.24, 95% CI 0.02, 0.45). These improvements were maintained 3 months after training had ceased (SMD = 0.26, 95% CI 0.04, 0.48). The attention training programme was not effective in promoting improvements in sustained attention, attentional control or inattentive/hyperactive behaviours. CONCLUSIONS: The findings suggest that attention training may enhance some aspects of attention (selective attention) in children with IDD, but the small to medium effect sizes indicate that further refinement of the training programme is needed to promote larger, more global improvements.


Assuntos
Atenção/fisiologia , Remediação Cognitiva/métodos , Deficiências do Desenvolvimento/reabilitação , Deficiência Intelectual/reabilitação , Avaliação de Resultados em Cuidados de Saúde , Terapia Assistida por Computador/métodos , Criança , Pré-Escolar , Método Duplo-Cego , Feminino , Humanos , Masculino
13.
Res Dev Disabil ; 57: 18-28, 2016 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-27348856

RESUMO

Whilst neuropsychological research has enhanced our understanding of inattentive and hyperactive behaviours among children with intellectual disability (ID), the absence of rating scales developed for this group continues to be a gap in knowledge. This study examined these behaviours in 176 children with autism spectrum disorder (ASD), Down Syndrome (DS), or idiopathic ID using a newly developed teacher rating scale, the Scale of Attention in Intellectual Disability. Findings suggested that children with ASD had a significantly greater breadth of hyperactive/impulsive behaviours than those with DS or idiopathic ID. These findings support existing research suggesting differing profiles of attention and activity across groups. Understanding disorder-specific profiles has implications for developing strategies to support students with ID in the classroom.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/psicologia , Transtorno do Espectro Autista/psicologia , Síndrome de Down/psicologia , Deficiência Intelectual/psicologia , Adolescente , Atenção , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Criança , Pré-Escolar , Feminino , Humanos , Comportamento Impulsivo , Masculino
14.
Cerebellum ; 15(5): 565-9, 2016 10.
Artigo em Inglês | MEDLINE | ID: mdl-27126308

RESUMO

There is now growing evidence of cognitive weakness in female premutation carriers (between 55 and 199 CGG repeats) of the fragile X mental retardation gene, including impairments associated with executive function. While an age-related decline in assessments of executive function has been found for male premutation carriers, few studies have explored whether female carriers show a similar trajectory with age. A total of 20 female premutation carriers and 21 age- and IQ-matched healthy controls completed a battery of tasks assessing executive function tasks, including the behavioural dyscontrol scale (BDS), symbol digit modalities test (SDMT), paced auditory serial addition test (PASAT), Haylings sentence completion test and the digit span task (forward and backward). Performance was compared between premutation carriers and healthy controls, and the association between task performance and age was also ascertained. Compared to controls, female premutation carriers had significant impairment on the BDS, SDMT, PASAT, and Haylings sentence completion task, all of which rely on quick, or timed, responses. Further analyses revealed no significant association between age and task performance for either premutation carriers or controls. This study demonstrates that a cohort of female premutation carriers have deficits on a range of tasks of executive function that require the rapid temporal resolution of responses. We propose that the understanding of the phenotype of premutation carriers will be advanced through use of such measures.


Assuntos
Transtornos Cognitivos/genética , Função Executiva , Proteína do X Frágil de Retardo Mental/genética , Heterozigoto , Adulto , Fatores Etários , Estudos de Coortes , Feminino , Humanos , Inteligência , Testes de Inteligência , Pessoa de Meia-Idade , Testes Neuropsicológicos , Fenótipo , Análise de Regressão , Adulto Jovem
15.
Neurology ; 84(16): 1631-8, 2015 Apr 21.
Artigo em Inglês | MEDLINE | ID: mdl-25809302

RESUMO

OBJECTIVE: To examine the epigenetic basis of psychiatric symptoms and dysexecutive impairments in FMR1 premutation (PM: 55 to 199 CGG repeats) women. METHODS: A total of 35 FMR1 PM women aged between 22 and 55 years and 35 age- and IQ-matched women controls (CGG <45) participated in this study. All participants completed a range of executive function tests and self-reported symptoms of psychiatric disorders. The molecular measures included DNA methylation of the FMR1 CpG island in blood, presented as FMR1 activation ratio (AR), and 9 CpG sites located at the FMR1 exon1/intron 1 boundary, CGG size, and FMR1 mRNA levels. RESULTS: We show that FMR1 intron 1 methylation levels could be used to dichotomize PM women into greater and lower risk categories (p = 0.006 to 0.037; odds ratio = 14-24.8), with only FMR1 intron 1 methylation, and to a lesser extent AR, being significantly correlated with the likelihood of probable dysexecutive or psychiatric symptoms (p < 0.05). Furthermore, the significant relationships between methylation and social anxiety were found to be mediated by executive function performance, but only in PM women. FMR1 exon 1 methylation, CGG size, and FMR1 mRNA could not predict probable dysexecutive/psychiatric disorders in PM women. CONCLUSIONS: This is the first study supporting presence of specific epigenetic etiology associated with increased risk of developing comorbid dysexecutive and social anxiety symptoms in PM women. These findings could have implications for early intervention and risk estimate recommendations aimed at improving the outcomes for PM women and their families.


Assuntos
Metilação de DNA , Função Executiva/fisiologia , Proteína do X Frágil de Retardo Mental/genética , Fenótipo , Transtornos Fóbicos/genética , Expansão das Repetições de Trinucleotídeos/genética , Adulto , Biomarcadores , Estudos de Coortes , Epigênese Genética/genética , Feminino , Humanos , Pessoa de Meia-Idade , Mutação/genética , Risco , Adulto Jovem
16.
Am J Intellect Dev Disabil ; 120(2): 91-109, 2015 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-25715180

RESUMO

Difficulties with attention, impulsivity, and hyperactivity are thought to be as common among children with intellectual disability (ID) as they are in children without ID. Despite this, there is a lack of scales to specifically assess ADHD symptomatology in children and adolescents with ID. This article describes the development and evaluation of a teacher-completed measure; the Scale of Attention in Intellectual Disability (SAID). A community survey of 176 teachers of children 5-13 years of age, with ID at all levels of impairment indicated that the T-SAID is a reliable and valid measure. Integrating this scale with neuropsychological and clinical research holds exciting promise for enhancing our understanding of the nature of attention difficulties within populations with ID.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Deficiência Intelectual/diagnóstico , Escalas de Graduação Psiquiátrica/normas , Psicometria/instrumentação , Adolescente , Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Criança , Pré-Escolar , Comorbidade , Feminino , Humanos , Deficiência Intelectual/epidemiologia , Masculino
17.
Behav Brain Res ; 282: 194-200, 2015 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-25591477

RESUMO

Fragile X mental retardation 1 (FMR1) premutation carriers (PM-carriers) are characterised as having mid-sized expansions of between 55 and 200 CGG repeats in the 5' untranslated region of the FMR1 gene. While there is evidence of executive dysfunction in PM-carriers, few studies have explicitly explored working memory capabilities in female PM-carriers. 14 female PM-carriers and 13 age- and IQ-matched healthy controls completed an ocular motor n-back working memory paradigm. This task examined working memory ability and the effect of measured increases in cognitive load. Female PM-carriers were found to have attenuated working memory capabilities. Increasing the cognitive load did not elicit the expected reciprocal increase in the task errors for female PM-carriers, as it did in controls. However female PM-carriers took longer to respond than controls, regardless of the cognitive load. Further, FMR1 mRNA levels were found to significantly predict PM-carrier response time. Although preliminary, these findings provide further evidence of executive dysfunction, specifically disruption to working memory processes, which were found to be associated with increases in FMR1 mRNA expression in female PM-carriers. With future validation, ocular motor paradigms such as the n-back paradigm will be critical to the development of behavioural biomarkers for identification of PM-carrier cognitive-affective phenotypes.


Assuntos
Cognição , Movimentos Oculares , Proteína do X Frágil de Retardo Mental/genética , Síndrome do Cromossomo X Frágil/genética , Síndrome do Cromossomo X Frágil/psicologia , Memória de Curto Prazo , Adolescente , Adulto , Feminino , Heterozigoto , Humanos , Pessoa de Meia-Idade , Mutação , Desempenho Psicomotor , RNA Mensageiro , Tempo de Reação , Adulto Jovem
18.
Neurobiol Aging ; 36(3): 1400-8, 2015 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-25541421

RESUMO

Recent studies in young adult females with the fragile X mental retardation 1 (FMR1) gene premutation (PM) have shown subtle but significant impairments in executive control and postural stability. Less is known about the influence of age and FMR1 gene expression on executive control and postural stability in females with the PM. Here, we examined the attentional demands of reactive stepping using a well-validated measure of choice stepping reaction time under dual-task interference. We explored the interrelationships between step initiation times during a concurrent verbal fluency task and specific impairments in executive control previously reported in females with the PM. Our results showed increased dual-task interference on step initiation times and variability in female PM compared with control subjects. In addition, we observed greater choice stepping reaction time dual-task costs above the breakpoint of 81 CGG repeats relative to below this CGG range. Dual-task interference on both reaction time and movement time were significantly predicted by low working memory capacity in female PM carriers. Importantly, we revealed that FMR1 messenger RNA level is the most significant predictor accounting for dual-task stepping variability in both reaction time and movement time in PM females. These findings for the first time provide evidence linking elevated FMR1 messenger RNA levels that have been previously associated with FMR1 RNA toxicity and deficits in cerebellar motor and cognitive networks in a subgroup of at-risk PM women.


Assuntos
Proteína do X Frágil de Retardo Mental/genética , Síndrome do Cromossomo X Frágil/genética , Síndrome do Cromossomo X Frágil/fisiopatologia , Atividade Motora/genética , Equilíbrio Postural/genética , Postura/fisiologia , RNA Mensageiro/genética , Cognição , Função Executiva , Feminino , Proteína do X Frágil de Retardo Mental/metabolismo , Síndrome do Cromossomo X Frágil/epidemiologia , Síndrome do Cromossomo X Frágil/psicologia , Humanos , Mutação , Risco , Fatores Sexuais
19.
J Neurodev Disord ; 6(1): 44, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25530819

RESUMO

Although there is evidence that significant sleep problems are common in children with autism spectrum disorder (ASD) and that poor sleep exacerbates problematic daytime behavior, such relationships have received very little attention in both research and clinical practice. Treatment guidelines to help manage challenging behaviors in ASD fail to mention sleep at all, or they present a very limited account. Moreover, limited attention is given to children with low-functioning autism, those individuals who often experience the most severe sleep disruption and behavioral problems. This paper describes the nature of sleep difficulties in ASD and highlights the complexities of sleep disruption in individuals with low-functioning autism. It is proposed that profiling ASD children based on the nature of their sleep disruption might help to understand symptom and behavioral profiles (or vice versa) and therefore lead to better-targeted interventions. This paper concludes with a discussion of the limitations of current knowledge and proposes areas that are important for future research. Treating disordered sleep in ASD has great potential to improve daytime behavior and family functioning in this vulnerable population.

20.
Neurobiol Aging ; 35(9): 2179.e7-13, 2014 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-24814676

RESUMO

Recent studies report a higher risk of dementia and motor symptoms in females with the fragile X mental retardation 1 premutation (PM-carriers) than has hitherto been appreciated. Here, we use dual-task gait paradigms to identify potential markers of cognitive and motor decline in female PM-carriers. Spatiotemporal gait characteristics and variability of gait were assessed during single- and dual-task conditions in 28 female PM-carriers (mean age 41.32 ± 8.03 years) and 31 female controls with normal fragile X mental retardation 1 alleles (mean age 41.61 ± 8.30 years). Despite comparable gait characteristics at baseline, gait performance was significantly poorer for PM-carriers when performing concurrent working memory tasks (counting backwards by 3's or 7's) when compared with controls. Correlational analyses showed that low working memory capacity was significantly associated with dual-task interference for the gait domains of pace (speed, step length) and variability (step time, swing time) in PM-carriers. Multiple regression analyses further showed that the interaction between age and CGG repeat length was strongly predictive of gait variability during dual-task performance. These findings indicate for the first time that vulnerability in specific domains of gait control may act as sensitive surrogate markers of future decline in female PM-carriers.


Assuntos
Envelhecimento , Proteína do X Frágil de Retardo Mental/genética , Estudos de Associação Genética , Mutação , Transtornos Psicomotores/genética , Repetições de Trinucleotídeos , Adulto , Feminino , Marcha , Heterozigoto , Humanos , Memória de Curto Prazo , Pessoa de Meia-Idade , Transtornos Psicomotores/fisiopatologia , Transtornos Psicomotores/psicologia , Desempenho Psicomotor , Análise de Regressão , Risco
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