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Author: Kim M Cornish (35)


Feb
2018

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.

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Oct
2017

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.

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May
2017

To examine the interrelationships between fragile X mental retardation 1 () mRNA and theexon 1/intron 1 boundary methylation, white matter microstructure, and executive function, in women with apremutation expansion (PM; 55-199 CGG repeats) and controls (CGG < 44).
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.mRNA and methylation levels for 9 CpG sites within theexon 1/intron 1 boundary from peripheral blood samples were analyzed.

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Nov
2017

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.

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Dec
2016

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.

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May
2017

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.

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Oct
2016

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.

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Oct
2016

The current study assessed the association between anxiety symptoms and sleep in 90 school-aged children, aged 6-12 years (M= 108 months, 52.2% male). The Children's Sleep Habits Questionnaire (CSHQ) and 14 nights of actigraphy were used to assess sleep.

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Oct
2016

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).

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Apr
2015

To examine the epigenetic basis of psychiatric symptoms and dysexecutive impairments in FMR1 premutation (PM: 55 to 199 CGG repeats) women.
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.

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Mar
2015

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).

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Apr
2015

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.

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Mar
2015

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.

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Dec
1969

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.

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Jul
2014

Maternal predictors of anxiety risk in young males with fragile X.

Am J Med Genet B Neuropsychiatr Genet 2014 Jul 16;165B(5):399-409. Epub 2014 May 16.
Bridgette L Tonnsen, Kim M Cornish, Anne C Wheeler, Jane E Roberts
Children with fragile X syndrome (FXS) demonstrate high rates of anxiety disorders, with 65-83% meeting diagnostic criteria. The severity of anxiety symptoms in FXS has been shown to be partially predicted by elevated negative affect across early childhood [Tonnsen et al. (2013a); J Abnorm Child Psychol 41:267-280].

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Sep
2014

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.

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Aug
2014

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset movement disorder associated with FMR1 premutation alleles. Asymptomatic premutation (aPM) carriers have preserved cognitive functions, but they present subtle executive deficits. Current efforts are focusing on the identification of specific cognitive markers that can detect aPM carriers at higher risk of developing FXTAS.

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Dec
2013

The neurodevelopmental disorder Williams syndrome (WS) has been associated with a social phenotype of hypersociability, non-social anxiety and an unusual attraction to faces. The current study uses eye tracking to explore attention allocation to emotionally expressive faces. Eye gaze and behavioural measures of anxiety and social reciprocity were investigated in adolescents and adults with WS when compared to typically developing individuals of comparable verbal mental age (VMA) and chronological age (CA).

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Jan
2014

Fragile X Mental Retardation 1 (FMR1) premutation carriers (PM-carriers) have a defective trinucleotide expansion on the FMR1 gene that is associated with continuum of neuropsychological and mental disorders. Currently, little is known about the distinct subcomponents of executive function potentially impaired in female PM-carriers, and there have been no investigations into associations between executive function and incidences of mental disorders. A total of 35 female PM-carriers confirmed by Asuragen triple primed PCR DNA testing and 35 age- and intelligence-matched controls completed tests of executive function (i.

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Sep
2013

Recent investigations report a higher risk of motor symptoms in females with the FMR1 premutation (PM-carriers) than has hitherto been appreciated. Here we examined basic sensorimotor and postural control under different sensory and attentional dual-task demands. Physiological performance and postural sway measures from the Physiological Profile Assessment (Lord et al.

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May
2013

Previous studies suggest that individuals with Williams syndrome (WS), a rare genetically based neurodevelopmental disorder, show specific weaknesses in visual attention and response inhibition within the visuospatial domain. Here we examine the extent to which impairments in attentional control extend to the visuomotor domain using a well-validated measure of choice stepping reaction time (CSRT) in individuals with WS. We examined the interaction between executive control and visually guided stepping using a verbal fluency dual-task or Go/NoGo paradigm during CSRT performance.

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Mar
2013

For years, premutation-carriers of fragile X-syndrome (FXS) were assumed free from any deleterious phenotype. In this review, we discuss the current literature on neurocognitive, emotional and neuromotor profiles emerging in females with the fragile-X premutation, and discuss phenotypic profiles in male premutation-carriers to gain insights into possible underlying mechanisms associated with FMR1 gene expression. We contend that this emerging phenotypic profile in females with the fragile-X premutation needs further investigation using experimentally-driven tasks sensitive to neural networks especially vulnerable to FMR1 gene expression.

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Jun
2012

Until a decade ago, it was assumed that males with the fragile X premutation were unaffected by any cognitive phenotype. Here we examined the extent to which CGG repeat toxicity extends to visuospatial functioning in male fragile X premutation carriers who are asymptomatic for a late-onset neurodegenerative disorder, fragile X-associated tremor/ataxia syndrome (FXTAS). Thirty-three premutation males aged 20-68 years [divided into two groups: 16 low-repeat carriers (CGG ≥ 55 ≤ 100) and 17 high-repeat carriers (CGG>100)] with a family history of fragile X syndrome and 62 non-affected adult males with normal FMR1 alleles were recruited.

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Dec
2011

Attention deficit hyperactivity disorder (ADHD) and reading disability (RD) frequently co-occur in the child population and therefore raise the possibility of shared genetic etiology. We used a quantitative trait loci (QTL) approach to assess the involvement of the dopamine transporter (DAT1) gene polymorphism in mediating reading disability and poor attention in a general population sample of primary school children aged 6-11 years in the UK. The potential confounding effects of IQ and chronological age were also investigated.

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Aug
2011

This study determined whether CGG repeat length moderates the relationship between age and performance on selective measures of executive function in premutation carriers (PM) who are asymptomatic for a recently described late-onset neurodegenerative disorder, fragile X-associated tremor/ataxia syndrome (FXTAS).
Forty PM men aged 18-69 years with a family history of fragile X syndrome underwent neuropsychological tests of inhibition and working memory. We examined only men who are asymptomatic for FXTAS.

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Dec
1969

Gender is an important factor to consider in understanding the clinical presentation, management, and developmental trajectory of children with neuropsychiatric disorders. While much is known about the clinical and neurobehavioural profiles of boys with neuropsychiatric disorders, surprisingly little is known about girls. The aim of this chapter was to review our understanding of gender by considering the most prevalent childhood onset neuropsychiatric disorders, autism and Fragile X syndrome.

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Dec
2011

The present study examined diagnostic differentiation between school-aged children with autism spectrum disorders (ASD) and children with pragmatic language impairment (PLI). Standardized diagnostic instruments were used to investigate the relationship between severity of 'autism triad' impairments and group membership. The Autism Diagnostic Observation Schedule was administered to 19 children with PLI and 22 children with ASD.

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Aug
2010

Fragile X Syndrome is a neurodevelopmental disorder that is caused by the silencing of a single gene on the X chromosome, the Fragile X Mental Retardation 1 (FMR1) gene. In recent years, the premutation ("carrier") status has received considerable attention and there is now an emerging consensus that despite intellectual functioning being within the average range premutation males present with subtle executive function impairments that include poor inhibitory control, working memory deficits, and poor planning skills. The ranges of these skills, although not nearly as severe as seen in the full mutation, nonetheless serve to differentiate males with the premutation from males in the unaffected population.

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Apr
2009

Fragile X syndrome (FXS) is one of the most prevalent forms of heritable mental retardation and developmental delay in males. The syndrome is caused by the silencing of a single gene (fragile X mental retardation-1; FMR1) and the lack of expression of its protein product (fragile X mental retardation-1 protein; FMRP). Recent work has linked the high expression levels of FMRP in the magnocellular layers of lateral geniculate nucleus (M-LGN) of the visual system to a specific reduction of perceptual function known to be mediated by that neural structure.

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Apr
2009

Fragile X syndrome is the world's most common hereditary cause of developmental delay in males and is now well characterized at the biological, brain and cognitive levels. The disorder is caused by the silencing of a single gene on the X chromosome, the FMR1 gene. The premutation (carrier) status, however, is less well documented but has an emerging literature that highlights a more subtle profile of executive cognitive deficiencies that mirror those reported in fully affected males.

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Jun
2008

Fragile X syndrome is a neurodevelopmental disorder that is caused by the silencing of a single gene on the X chromosome, the fragile X mental retardation 1 (FMR1) gene. Affected individuals display a unique neurocognitive phenotype that includes significant impairment in inhibitory control, selective attention, working memory, and visual-spatial cognition. In contrast, little is known about the trajectory and specificity of any cognitive impairment associated with the fragile X premutation (i.

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Jan
2008

The development of static and dynamic perception for stimuli requiring different levels of neural analysis was assessed by measuring orientation-identification and direction-identification thresholds for both lower-level [or first-order (FO)] and higher-level [or second-order (SO)] stimuli as a function of age. Results demonstrate that both lower-level and higher-level perception continue to develop during school-age years in both dynamic and static domains. When compared with adult levels, dynamic performance for 5-6-year-olds is significantly decreased for SO, but not for the FO perception; however, type of stimulus (FO vs.

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Sep
2008

Fragile X Syndrome is the most common heritable form of mental retardation caused by silencing of the FMR1 gene, which arises from intergenerational trinucleotide repeat expansion leading to full mutation. An intermediary carrier condition, known as the premutation, is characterized by expansion up to 200 repeats without concomitant gene silencing. This prevalent allelic variant was initially thought to be free of phenotypic effects.

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