Journal of Neurodevelopmental Disorders 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.

Social attention during object engagement: toward a cross-species measure of preferential social orienting
ConclusionsThis work suggests that a brief behavioral measure pitting a high-interest nonsocial stimulus against the innate draw of social partners can serve as a feasible cross-species measure of social orienting, with implications for genetically informative behavioral phenotyping of social deficits in ASD and other neurodevelopmental disorders. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - December 14, 2022 Category: Neurology Source Type: research

The feasibility and utility of hair follicle sampling to measure FMRP and FMR1 mRNA in children with or without fragile X syndrome: a pilot study
ConclusionFindings demonstrated that repeated sampling of hair follicles in individuals with FXS, in both, home, and office settings, is feasible, repeatable, and can be used for measurement ofFMR1 mRNA and FMRP in longitudinal studies. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - December 9, 2022 Category: Neurology Source Type: research

A randomized, controlled trial of ZYN002 cannabidiol transdermal gel in children and adolescents with fragile X syndrome (CONNECT-FX)
ConclusionsIn CONNECT-FX, ZYN002 was well tolerated in patients with FXS and demonstrated evidence of efficacy with a favorable benefit risk relationship in patients with  ≥ 90% methylation of theFMR1 gene, in whom gene silencing is most likely, and the impact of FXS is typically most severe.Trial registrationThe CONNECT-FX trial is registered on Clinicaltrials.gov (NCT03614663). (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - November 25, 2022 Category: Neurology Source Type: research

Correction: EEG resting-state functional connectivity: evidence for an imbalance of external/internal information integration in autism
(Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - October 16, 2022 Category: Neurology Source Type: research

Divergent presentation of anxiety in high-risk groups within the intellectual disability population
ConclusionsDSM-5 and ASD-related anxiety are common in these high-risk syndromes associated with ID. Prospective syndrome specific presentations and associations, which may implicate specific underlying mechanisms, are discussed. Clinicians should be aware of the risk and difficulties involved in assessment of anxiety in individuals with ID, including atypical types, to ensure these individuals do not “miss” diagnoses and support in general clinical practice. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - October 5, 2022 Category: Neurology Source Type: research

Long-term follow-up of telehealth-enabled behavioral treatment for challenging behaviors in boys with fragile X syndrome
ConclusionsEmpowering parents to implement behavior analytic treatments with their child in their own home can have durable effects on maintaining low levels of challenging behaviors in boys with FXS. These data further support the need to implement parent-mediated interventions for challenging behaviors in this population at an early age.Trial registrationClinicalTrials.gov,NCT03510156. Registered 27 April 2018 (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - September 30, 2022 Category: Neurology Source Type: research

Baclofen-associated neurophysiologic target engagement across species in fragile X syndrome
ConclusionsOverall, we noted synchronized target engagement of RBAC on resting state electrophysiology, in particular the reduction of aberrant high frequency gamma activity, across species in FXS. This finding holds promise for translational medicine approaches to drug development for FXS, synchronizing treatment study across species using well-established EEG biological markers in this field.Trial registrationThe human experiments are registered under NCT02998151. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - September 27, 2022 Category: Neurology Source Type: research

Default mode and fronto-parietal network associations with IQ development across childhood in autism
ConclusionsWithin autism, volumetric differences of brain regions within the DMN in early childhood may differentiate individuals with persistently low IQ from those with low IQ that improves through childhood. Structural differences in brain networks between these three IQ-based subgroups highlight distinct neural underpinnings of these autism sub-phenotypes. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - September 15, 2022 Category: Neurology Source Type: research

Focus on your locus with a massively parallel reporter assay
AbstractA growing number of variants associated with risk for neurodevelopmental disorders have been identified by genome-wide association and whole genome sequencing studies. As common risk variants often fall within large haplotype blocks covering long stretches of the noncoding genome, the causal variants within an associated locus are often unknown. Similarly, the effect of rare noncoding risk variants identified by whole genome sequencing on molecular traits is seldom known without functional assays. A massively parallel reporter assay (MPRA) is an assay that can functionally validate thousands of regulatory elements ...
Source: Journal of Neurodevelopmental Disorders - September 9, 2022 Category: Neurology Source Type: research

Phenotypic characteristics and variability in CHARGE syndrome: a PRISMA compliant systematic review and meta-analysis
ConclusionsOur comprehensive review of clinical features, behavioural, psychological, cognitive and physical characteristics, conditions and comorbidities in CHARGE syndrome provides an empirically based foundation to further research and practice. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - August 31, 2022 Category: Neurology Source Type: research

Auditory processing in rodent models of autism: a systematic review
AbstractAutism is a complex condition with many traits, including differences in auditory sensitivity. Studies in human autism are plagued by the difficulty of controlling for aetiology, whereas studies in individual rodent models cannot represent the full spectrum of human autism. This systematic review compares results in auditory studies across a wide range of established rodent models of autism to mimic the wide range of aetiologies in the human population. A search was conducted in the PubMed and Web of Science databases to find primary research articles in mouse or rat models of autism which investigate central audit...
Source: Journal of Neurodevelopmental Disorders - August 30, 2022 Category: Neurology Source Type: research

EEG resting-state functional connectivity: evidence for an imbalance of external/internal information integration in autism
ConclusionThese results shed light on possible multimodal integration impairments affecting the communication between bottom-up and top-down information. The observed hypoconnectivity between the DMN, SMN, and DAN could also be related to difficulties in switching between externally oriented attention and internally oriented thoughts. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - August 27, 2022 Category: Neurology Source Type: research

Is the dolphin a fish? ERP evidence for the impact of typicality during early visual processing in ultra-rapid semantic categorization in autism spectrum disorder
ConclusionsWe found evidence that all three factors under investigation — category, typicality, and presentation time — modulated specific aspects of semantic categorization. Additionally, we observed a qualitatively different pattern in the autistic adults, which suggests that they relied on different cognitive processes to complete the task. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - August 23, 2022 Category: Neurology Source Type: research

A framework for characterizing heterogeneity in neurodevelopmental data using latent profile analysis in a sample of children with ADHD
ConclusionsOur approach, which emphasizes theoretical as well as empirical evaluation of mixture models, could make these models more accessible to clinical researchers and may be a useful approach to parsing heterogeneity in neurodevelopmental disorders. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - August 3, 2022 Category: Neurology Source Type: research

The impact of sex chromosome trisomies (XXX, XXY, XYY) on gaze towards faces and affect recognition: a cross-sectional eye tracking study
ConclusionsThese results highlight the importance to further explore the development of social cognitive skills of children with SCT in a longitudinal design, the monitoring of affect recognition skills, and the implementation of (preventive) interventions aiming to support the development of attention to social important information and affect recognition. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - August 2, 2022 Category: Neurology Source Type: research