Journal of Neurodevelopmental Disorders 
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This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.Outcome measures in Angelman syndrome
ConclusionsEye-tracking and BOD POD are feasible measurement methods for children with AS. Eye-tracking was successfully used to assess visual orienting functions in the current study and (with some practical adaptations) can potentially be used to assess other outcomes as well. BOD POD was successfully used to examine body composition.Trial registrationRegistered d.d. 23-04-2020 under number ‘NL8550’ in the Dutch Trial Register:https://onderzoekmetmensen.nl/en/trial/23075 (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - March 1, 2024 Category: Neurology Source Type: research
Overcoming genetic and cellular complexity to study the pathophysiology of X-linked intellectual disabilities
AbstractX-linked genetic causes of intellectual disability (ID) account for a substantial proportion of cases and remain poorly understood, in part due to the heterogeneous expression of X-linked genes in females. This is because most genes on the X chromosome are subject to random X chromosome inactivation (XCI) during early embryonic development, which results in a mosaic pattern of gene expression for a given X-linked mutant allele. This mosaic expression produces substantial complexity, especially when attempting to study the already complicated neural circuits that underly behavior, thus impeding the understanding of ...
Source: Journal of Neurodevelopmental Disorders - February 29, 2024 Category: Neurology Source Type: research
Correction: Endophenotype trait domains for advancing gene discovery in autism spectrum disorder
(Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - February 28, 2024 Category: Neurology Source Type: research
Assessing the integrity of auditory sensory memory processing in CLN3 disease (Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease)): an auditory evoked potential study of the duration-evoked mismatch negativity (MMN)
ConclusionsResults reveal emerging insufficiencies in this critical auditory perceptual system in individuals withCLN3 disease. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - January 6, 2024 Category: Neurology Source Type: research
Degraded inferior colliculus responses to complex sounds in prenatally exposed VPA rats
ConclusionsThese results are consistent with observations in individuals with autism that neural responses to complex sounds, like speech, are often altered, and lays the foundation for future studies of potential therapeutics to improve auditory processing in the VPA rat model of ASD. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - January 2, 2024 Category: Neurology Source Type: research
White matter microstructure of children with sensory over-responsivity is associated with affective behavior
ConclusionWhite matter microstructure is related to affective behavior in children with SOR. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - January 2, 2024 Category: Neurology Source Type: research
Assessing receptive verb knowledge in late talkers and autistic children: advances and cautionary tales
ConclusionEye gaze can be used to assess receptive verb vocabulary in a variety of populations, but in operationalizing gaze behavior, we must account for between- and within-group differences. Bootstrapped cluster-permutation analysis is one way to create individualized measures of children ’s gaze behavior, but more research is warranted using an individual differences approach with this type of analysis. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - December 13, 2023 Category: Neurology Source Type: research
The association between cardiovascular health and cognition in adults with Down syndrome
ConclusionPredictors of cardiovascular health, including cardiorespiratory fitness and systolic blood pressure, were associated with some aspects of cognition in adults with DS. While future research should examine the role of improved cardiovascular health on delaying decreases in cognitive function and dementia in adults with DS, we recommend that health care providers convey the importance of exercise and cardiovascular health to their patients with DS.Trial registrationNCT04048759, registered on August 7, 2019. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - December 6, 2023 Category: Neurology Source Type: research
The use of eye-tracking technology as a tool to evaluate social cognition in people with an intellectual disability: a systematic review and meta-analysis
AbstractBackgroundRelatively little is known about social cognition in people with intellectual disability (ID), and how this may support understanding of co-occurring autism. A limitation of previous research is that traditional social-cognitive tasks place a demand on domain-general cognition and language abilities. These tasks are not suitable for people with ID and lack the sensitivity to detect subtle social-cognitive processes. In autism research, eye-tracking technology has offered an effective method of evaluating social cognition —indicating associations between visual social attention and autism characteristics...
Source: Journal of Neurodevelopmental Disorders - December 4, 2023 Category: Neurology Source Type: research
Endophenotype trait domains for advancing gene discovery in autism spectrum disorder
AbstractAutism spectrum disorder (ASD) is associated with a diverse range of etiological processes, including both genetic and non-genetic causes. For a plurality of individuals with ASD, it is likely that the primary causes involve multiple common inherited variants that individually account for only small levels of variation in phenotypic outcomes. This genetic landscape creates a major challenge for detecting small but important pathogenic effects associated with ASD. To address similar challenges, separate fields of medicine have identified endophenotypes, or discrete, quantitative traits that reflect genetic likelihoo...
Source: Journal of Neurodevelopmental Disorders - November 22, 2023 Category: Neurology Source Type: research
Neural oscillatory activity and connectivity in children who stutter during a non-speech motor task
ConclusionsTaken together, these findings indicate weaker engagement of the contralateral left motor network in children who stutter even during low-demand non-speech tasks, and suggest that the right hemisphere might be recruited to support sensorimotor processing in childhood stuttering. Differences in oscillatory dynamics occurred despite comparable task performance between groups, indicating that an altered balance of cortical activity might be a core aspect of stuttering, observable during normal motor behavior. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - November 15, 2023 Category: Neurology Source Type: research
A mouse model of ATRX deficiency with cognitive deficits and autistic traits
ConclusionsCollectively, the findings indicate that early developmental abnormalities arising from ATRX deficiency in forebrain excitatory neurons contribute to the presentation of fear memory deficits as well as autistic-like behaviours. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - November 13, 2023 Category: Neurology Source Type: research
Correction: The diagnostic journey of genetically defined neurodevelopmental disorders
(Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - November 11, 2023 Category: Neurology Source Type: research
Age of diagnosis for children with chromosome 15q syndromes
ConclusionUnderstanding variability in the age of diagnosis for chromosome 15 disorders is an important step in reducing the diagnostic odyssey and improving access to interventions for these populations. Results from this study provide a baseline by which to evaluate efforts to reduce the age of diagnosis for individuals with these conditions. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - November 7, 2023 Category: Neurology Source Type: research
Autism through midlife: trajectories of symptoms, behavioral functioning, and health
ConclusionsMeeting the needs of the increasingly large population of autistic adults in midlife and old age requires a nuanced understanding of life course trajectories across the long stretch of adulthood and across multiple domains. Given the heterogeneity of autism, it will be important not to generalize across sub-groups, for example those who are minimally verbal and those who have above-average intellectual functioning. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - November 3, 2023 Category: Neurology Source Type: research
