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Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders
ConclusionsDisruption ofDMXL2 may predispose to NDDs including autism spectrum disorder. The robust interpretation of private variants requires a multifaceted approach that incorporates multigenerational pedigrees and genome-wide and population-scale data. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - February 7, 2019 Category: Neurology Source Type: research

Static and dynamic postural control deficits in aging fragile X mental retardation 1 ( FMR1 ) gene premutation carriers
ConclusionOur findings indicate that agingFMR1 premutation carriers show static and dynamic postural control deficits relative to healthy controls implicating degenerative processes of spinocerebellar and cerebellar-brainstem circuits that may be independent of or precede the onset of FXTAS. Our finding that FXTAS+ and FXTAS − premutation carriers differed on their level of intentional AP sway suggests that neural mechanisms of dynamic postural control may be differentially impacted in patients with FXTAS, and its measurement may be useful for rapidly and precisely identifying disease presence and onset. (Source: Journal...
Source: Journal of Neurodevelopmental Disorders - January 21, 2019 Category: Neurology Source Type: research

Differentiating social preference and social anxiety phenotypes in fragile X syndrome using an eye gaze analysis: a pilot study
ConclusionsThese findings suggest fragile X syndrome social deficits center on social anxiety without the prominent reduction in social interest associated with autism spectrum disorder. Specifically designed eye tracking techniques clarify the nature of social deficits in fragile X syndrome and may have applications to improve phenotyping and evaluate interventions targeting social functioning impairments. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - January 21, 2019 Category: Neurology Source Type: research

The reach-to-grasp movement in infants later diagnosed with autism spectrum disorder: a high-risk sibling cohort study
ConclusionsOur results support the growing literature indicating that children who are later diagnosed with ASD show impaired early motor performance. These results highlight the importance of early surveillance of children who are at elevated risk for ASD, and early initiatives should focus on early signs of the phenotype, including both movement and sensory differences (prodromal signs) prior to the emergence of diagnostic characteristics. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - December 27, 2018 Category: Neurology Source Type: research

Substance use and nicotine dependence in persistent, remittent, and late-onset ADHD: a 10-year longitudinal study from childhood to young adulthood
ConclusionsSUD and nicotine dependence are associated with a negative ADHD outcome. Results further emphasize the need for clinicians to comprehensively assess substance use when diagnosing ADHD in adolescents and adults. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - December 27, 2018 Category: Neurology Source Type: research

Cerebrospinal fluid and the early brain development of autism
ConclusionThe identification of early CSF abnormalities in children with ASD, along with emerging knowledge of the underlying pathogenic mechanisms, has the potential to serve as early stratification biomarkers that separate children with ASD into biological subtypes that share a common pathophysiology. Such subtypes could help parse the phenotypic heterogeneity of ASD and map on to targeted, biologically based treatments. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - December 13, 2018 Category: Neurology Source Type: research

Arterial spin labeling provides a reliable neurobiological marker of autism spectrum disorder
ConclusionsArterial spin labeling revealed hypoperfusion in children with ASD in regions critical to social perception and cognition. The left fusiform gyrus plays an important role in facial recognition, and greater CBF in this region was correlated with more normative facial recognition performance in children with ASD. This study takes an important first step in establishing CBF of the temporal lobes as a reliable marker of ASD. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - December 13, 2018 Category: Neurology Source Type: research

Imaging episodic memory during development and childhood epilepsy
AbstractEpilepsy affects 2.2 million adults in the USA, with 1 in 26 people developing epilepsy at some point in their lives. Temporal lobe epilepsy (TLE) is the most common form of focal epilepsy as medial structures, and the hippocampus in particular, are prone to generating seizures. Selective anterior temporal resection (which removes the hippocampus) is the most effective intractable TLE treatment, but given the critical role of the mesial temporal lobe in memory functioning, resection can have negative effects on this crucial cognitive skill. To minimize the adverse impact of temporal lobe surgery on memory functioni...
Source: Journal of Neurodevelopmental Disorders - December 13, 2018 Category: Neurology Source Type: research

Applying a network framework to the neurobiology of reading and dyslexia
ConclusionsThese results contribute to the growing literature on the relationship between reading and brain network architecture. They suggest that an efficient network organization, i.e., one in which brain areas form cohesive resting-state networks, is important for skilled reading, and that dyslexia can be characterized by abnormal functioning of hub regions that map information between multiple systems. Overall, use of a connectomics framework opens up new possibilities for investigating reading difficulty, especially its commonalities across other neurodevelopmental disorders. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - December 13, 2018 Category: Neurology Source Type: research

What ’s missing in autism spectrum disorder motor assessments?
ConclusionsStandardized assessments of motor function have provided valuable information on motor impairments in ASD. However, significant limitations remain in the use of these measures in children with ASD. Moving forward, it is imperative that standardized measures of motor function receive greater validation testing in children with ASD to assess their potential application given the clinical heterogeneity of this condition. In addition, utilizing quantitative measures of motor function should allow for evaluation and comparison of individuals with ASD across the lifespan with varying cognitive and behavioral abilities...
Source: Journal of Neurodevelopmental Disorders - December 13, 2018 Category: Neurology Source Type: research

Aberrant structural and functional connectivity and neurodevelopmental impairment in preterm children
ConclusionFuture work in this domain should continue to leverage longitudinal evaluations of preterm infants which include both neuroimaging and detailed serial neurodevelopmental assessments to further characterize relationships between imaging measures and impairment, information necessary for advancing our understanding of modifiable risk factors underlying these disorders and best practices for improving neurodevelopmental trajectories in this high-risk clinical population. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - December 13, 2018 Category: Neurology Source Type: research

ADHD-related sex differences in fronto-subcortical intrinsic functional connectivity and associations with delay discounting
ConclusionsOur findings suggest fronto-subcortical functional networks are affected in children with ADHD, particularly girls, and relate to delay discounting. These results also provide preliminary evidence of greater disruptions in fronto-subcortical FC among girls with ADHD that is not due to elevated inattention symptom severity, intellectual reasoning ability, age, or head motion. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - December 13, 2018 Category: Neurology Source Type: research

Statistical learning as a window into developmental disabilities
AbstractUntil recently, most behavioral studies of children with intellectual and developmental disabilities (IDD) have used standardized assessments as a means to probe etiology and to characterize phenotypes. Over the past decade, however, tasks originally developed to investigate learning processes in typical development have been brought to bear on developmental processes in children with IDD.This brief review will focus on one learning process in particular —statistical learning—and will provide an overview of what has been learned thus far from studies using statistical learning tasks with different groups of chi...
Source: Journal of Neurodevelopmental Disorders - December 13, 2018 Category: Neurology Source Type: research

Inaugural annual special section of the intellectual and developmental disabilities research centers: developmental cognitive neuroscience and neurodevelopmental disorders
(Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - December 13, 2018 Category: Neurology Source Type: research

An emotion recognition subtyping approach to studying the heterogeneity and comorbidity of autism spectrum disorders and attention-deficit/hyperactivity disorder
ConclusionsSubgroups of youths can be identified that differ both in quantitative and qualitative aspects of emotion recognition abilities. Weak emotion recognition abilities across sensory domains are linked to an increased risk for ASD as well as ADHD, although emotion recognition impairments alone are neither necessary nor sufficient parts of these disorders. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - November 15, 2018 Category: Neurology Source Type: research