Delineation of cross-domain associations between everyday executive function and adaptive behaviour in Down syndrome and Williams syndrome.

In genetic syndromes such as Down syndrome (DS) and Williams syndrome (WS), difficulties with executive functioning (EF) are a commonly reported feature and a key correlate of long-term success in everyday life. Despite a robust literature in children with these syndromes, it remains unclear how cross-syndrome characteristics of everyday EF relate to adaptive functioning and intelligence among adults with DS and WS, and if these relationships differ between these groups. This study aimed to characterise the profile of strengths and weaknesses in everyday EF using the Behaviour Rating Inventory of Executive Function-Adult Informant Version (BRIEF-A) in older adolescents and young adults with DS and WS.

Specialization of amygdala subregions in emotion processing.

The amygdala is important for human fear processing. However, recent research has failed to reveal specificity, with evidence that the amygdala also responds to other emotions. A more nuanced understanding of the amygdala's role in emotion processing, particularly relating to fear, is needed given the importance of effective emotional functioning for everyday function and mental health.

Delineating Visual Habituation Profiles in Preschoolers with Neurofibromatosis Type 1 and Autism Spectrum Disorder: A Cross-Syndrome Study.

Atypical habituation to repetitive information has been commonly reported in Autism Spectrum Disorder (ASD) but it is not yet clear whether similar abnormalities are present in Neurofibromatosis Type 1 (NF1). We employed a cross-syndrome design using a novel eye tracking paradigm to measure habituation in preschoolers with NF1, children with idiopathic ASD and typically developing (TD) children. Eye movements were recorded to examine fixation duration to simultaneously presented repeating and novel stimuli.

Relationships of Motor Changes with Cognitive and Neuropsychiatric Features in FMR1 Male Carriers Affected with Fragile X-Associated Tremor/Ataxia Syndrome.

The premutation expansion of the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene on the X chromosome has been linked to a range of clinical and subclinical features. Nearly half of men with FMR1 premutation develop a neurodegenerative disorder; Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS). In this syndrome, cognitive executive decline and psychiatric changes may co-occur with major motor features, and in this study, we explored the interrelationships between these three domains in a sample of adult males affected with FXTAS.

Feasibility of a virtual reality-based exercise intervention and low-cost motion tracking method for estimation of motor proficiency in youth with autism spectrum disorder.

Background: Motor impairment is widely acknowledged as a core feature in children with autism spectrum disorder (ASD), which can affect adaptive behavior and increase severity of symptoms. Low-cost motion capture and virtual reality (VR) game technologies hold a great deal of promise for providing personalized approaches to motor intervention in ASD. The present study explored the feasibility, acceptability and potential efficacy of a custom-designed VR game-based intervention (GaitWayXR™) for improving gross motor skills in youth with ASD.

Delineating the Relationships Between Motor, Cognitive-Executive and Psychiatric Symptoms in Female Premutation Carriers.

Premutation expansions (55-200 CGG repeats) of the Fragile X Mental Retardation 1 (FMR1) gene on the X chromosome are associated with a range of clinical features. Apart from the most severe - Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) - where the most typical white matter changes affect cerebellar peduncles, more subtle changes may include impairment of executive functioning, affective disorders and/or subtle motor changes. Here we aimed to examine whether performance in selected components of executive functioning is associated with subclinical psychiatric symptoms in non-FXTAS, adult females carrying the premutation.

Assessing IQ in adolescents with mild to moderate cerebral palsy using the WISC-V.

To examine the influence of subtests that require fine motor responses on measures of intellectual ability, and compare three approaches to minimizing motor demands while assessing cognitive abilities in adolescents with cerebral palsy (CP) to the traditional method of the Wechsler Intelligence Scale for Children - Fifth edition (WISC-V). Seventy adolescents with CP ( = 14 years 6 months,  = 10 months) who were able to provide either a verbal or point response were assessed using the WISC-V administered via Q-interactive. The pencil-to-paper version of Coding was also administered.

Functional play in young children with autism and Williams syndrome: A cross-syndrome comparison.

Functional play during early childhood paves the way to symbolic play and social communicative skills. However, functional play is surprisingly understudied in children with developmental disorders affecting social and communicative domains, such as Autism Spectrum Disorder (ASD) and Williams syndrome (WS). To address this issue and to evaluate both the quantity and quality of functional play in children with ASD and WS, we examined different play types using fine grained behavioral analysis with a group of age and IQ-matched developmentally delayed children with ASD (n = 14) and WS (n = 14) in comparison with 12 age-matched typically developing (TD) children.

Motor functioning in developmental psychopathology: A review of autism as an example context.

Background: Motor development research has seen substantial recent growth. However, much remains to be understood about the nature and extent of motor impairments in neurodevelopmental disorders, including their potential as early markers and/or causal determinants of downstream functioning in other domains.

Aims And Methods: In this narrative review, drawing primarily on the autism literature by way of example, we review current accounts of the nature and consequences of motor functioning.

Working memory is a core executive function supporting dual-task locomotor performance across childhood and adolescence.

Most daily-life ambulatory tasks involve dual tasking, for example, talking while walking. In children, the evidence supporting the effects of age on dual tasking is confounded by the difficulty of the cognitive task and lack of adjustment to suit individual cognitive abilities. To address this issue, the current study examined the effects of age, cognitive load, and executive functioning on the degree of dual-task gait interference across childhood and adolescence.

Total and Regional White Matter Lesions Are Correlated With Motor and Cognitive Impairments in Carriers of the Premutation.

This study explores the relationships between hemispheric and cerebellar white matter lesions and motor and cognitive impairments in male carriers of Fragile-X Mental Retardation 1 () premutation alleles, and in a subgroup of these carriers affected with Fragile X-Associated Tremor/Ataxia syndrome (FXTAS). Regional and total white matter hyperintensities () on MRI, assessed using semiquantitative scores, were correlated with three motor rating scales (ICARS, UPDRS, Tremor), and neuropsychological measures of non-verbal reasoning, working memory and processing speed, in a sample of 30 male premutation carriers aged 39-81 years, and separately in a subsample of 17 of these carriers affected with FXTAS. There were significant relationships between in the infratentorial region and all three motor scales, as well as several cognitive measures-Prorated IQ, Matrix Reasoning, Similarities, and the Symbol Digit Modalities Test (SDMT), in the total sample of carriers, as well as in the FXTAS group separately.

The development of the size-weight illusion in children coincides with the development of nonverbal cognition rather than motor skills.

We examined how the strength of the size-weight illusion develops with age in typically developing children. To this end, we recruited children aged 5-12 years and quantified the degree to which they experienced the illusion. We hypothesized that the strength of the illusion would increase with age.

Do Active Video Games Improve Motor Function in People With Developmental Disabilities? A Meta-analysis of Randomized Controlled Trials.

Objective: To conduct a meta-analysis to examine the effectiveness of active video games (AVGs) interventions on motor function in people with developmental disabilities.

Data Sources: An electronic search of 7 databases (PubMed, EbscoHost, Informit, Scopus, ScienceDirect, Proquest, PsychInfo) was conducted for randomized controlled trials (RCTs) evaluating AVGs to improve motor function in people with developmental disability, published through to May 2018.

Study Selection: Only articles in a peer-reviewed journal in English were selected and screened by 2 independent reviewers for RCTs that compared AVGs to conventional therapy.

Reduced Motor Interference in Preschoolers with Autism Spectrum Disorder and Williams Syndrome.

Motor interference occurs when action execution is hindered by the observation of an incongruent action. The present study used a novel eye-tracking paradigm to test the motor interference effect in 22 preschoolers with autism spectrum disorder (ASD), 14 preschoolers with Williams syndrome (WS), and 18 typically developing (TD) peers. In TD children, performance of a pre-determined action was slower after the observation of an incongruent motor action and faster following observation of a congruent motor action, indicating a motor interference effect.

Reduced caudate volume and cognitive slowing in men at risk of fragile X-associated tremor ataxia syndrome.

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).

Brief Report: The Impact of Sensory Hypersensitivity and Intolerance of Uncertainty on Anxiety in Williams Syndrome.

This study explored the interrelationship between intolerance of uncertainty, sensory hyper-sensitivity and anxiety in Williams syndrome (WS). Thirty-two parents or guardians of individuals with WS (M = 24.76 years, SD = 7.

Evidence for Training-Dependent Structural Neuroplasticity in Brain-Injured Patients: A Critical Review.

Acquired brain injury (ABI) is associated with a range of cognitive and motor deficits, and poses a significant personal, societal, and economic burden. Rehabilitation programs are available that target motor skills or cognitive functioning. In this review, we summarize the existing evidence that training may enhance structural neuroplasticity in patients with ABI, as assessed using structural magnetic resonance imaging (MRI)-based techniques that probe microstructure or morphology.

Intranasal oxytocin, social cognition and neurodevelopmental disorders: A meta-analysis.

Deficits in social cognition are pervasive and characteristic of neurodevelopmental disorders (NDDs). Clinical trials of intranasal oxytocin (IN-OT) to improve social cognition have yielded inconclusive results. The current study is a meta-analysis of randomized controlled trials (RCTs) considering the effect of IN-OT on social cognitive domains across a range of NDDs.

Social Attention, Joint Attention and Sustained Attention in Autism Spectrum Disorder and Williams Syndrome: Convergences and Divergences.

There is limited knowledge on shared and syndrome-specific attentional profiles in autism spectrum disorder (ASD) and Williams syndrome (WS). Using eye-tracking, we examined attentional profiles of 35 preschoolers with ASD, 22 preschoolers with WS and 20 typically developing children across social and non-social dimensions of attention. Children with ASD and those with WS presented with overlapping deficits in spontaneous visual engagement with the target of others' attention and in sustained attention.

Delineation of a spatial working memory profile using a non-verbal eye-tracking paradigm in young children with autism and Williams syndrome.

Working memory deficits profoundly inhibit children's ability to learn. While deficits have been identified in disorders such as autism spectrum disorder (ASD) and Williams syndrome (WS), findings are equivocal, and very little is known about the nature of these deficits early in development. A major barrier to advances in this area is the availability of tasks suitable for young children with neurodevelopmental disorders who experience difficulties with following verbal instructions or who are distressed by formal testing demands.

Attention to novelty versus repetition: Contrasting habituation profiles in Autism and Williams syndrome.

Background: Abnormalities in habituation have been documented in Autism Spectrum Disorder (ASD) and Williams syndrome (WS). Such abnormalities have been proposed to underlie the distinctive social and non-social difficulties that define ASD, including sensory features and repetitive behaviours, and the distinctive social phenotype characterizing WS.

Methods: We measured habituation in 39 preschoolers with ASD, 20 peers with WS and 19 typically developing (TD) children using an eye-tracking protocol that measured participants' duration of attention in response to a repeating stimulus and a novel stimulus presented side by side across multiple trials.