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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

Identifying and describing subtypes of spontaneous empathic facial expression production in autistic adults
ConclusionThe results from our previous study on self-reported empathy and current expressivity findings point to a higher degree of facial expressions recruited for emotional resonance in autism that may not always be adaptive (e.g., experiencing similar emotional resonance regardless of valence). These findings also build on previous work indicating that facial expression intensity is not diminished in autism and suggest the need for intervention programs to focus on emotion recognition and social skills in the context of both negative and positive emotions. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - August 1, 2022 Category: Neurology Source Type: research

Steady-state visual evoked potentials in children with neurofibromatosis type 1: associations with behavioral rating scales and impact of psychostimulant medication
ConclusionsImpaired processing of rhythmic visual stimulation was evidenced in children with NF1 through measures of SSVEP responses. Those responses seem to be more reduced in children with NF1 who exhibit more symptoms of inattention and emotional/behavioral problems in their daily life. SSVEPs are potentially sensitive electrophysiological markers that could be included in future studies investigating the impact of medication on brain activity and cognitive functioning in children with NF1. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - July 22, 2022 Category: Neurology Source Type: research

Copy number variation at the 22q11.2 locus influences prevalence, severity, and psychiatric impact of sleep disturbance
ConclusionsOur findings indicate that CNVs at the 22q11.2 locus impact sleep which, in turn, influences psychopathology. Sleep disturbances can differentially impact psychopathology, depending on 22q11.2 gene dosage. Our findings serve as a starting point for exploring a genetic basis for sleep disturbance in developmental neuropsychiatric disorders. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - July 10, 2022 Category: Neurology Source Type: research

Consistency of parent-report SLC6A1 data in Simons Searchlight with Provider-Based Publications
ConclusionsWe propose that standardized parent-report data collection methods are consistent with provider reports on many core features of SLC6A1-related disorder. The availability of patient registries and standardized natural history studies may fill an important need in clinical trial readiness programs, with larger sample sizes than smaller published case series. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - June 28, 2022 Category: Neurology Source Type: research

Calculating genetic risk for dysfunction in pleiotropic biological processes using whole exome sequencing data
ConclusionsOur bioinformatic-driven approach detected a biological process enriched for genes encoding a protein –protein interaction network linking ASD gene products with sleep duration gene products where accumulation of potentially damaging variants in individuals with ASD was associated with sleep duration as reported by the parents. Specifically, genetic dysfunction impacting development of the cerebra l cortex may affect sleep by disrupting sleep homeostasis which is evidenced to be regulated by this brain region. Future functional assessments and objective measurements of sleep in adolescents with ASD could provi...
Source: Journal of Neurodevelopmental Disorders - June 24, 2022 Category: Neurology Source Type: research

Temporal stability of parent-reported behavior problems in late talkers over 2 years: a prospective case-control study from toddlerhood to preschool age
ConclusionsThis study supported the temporal stability of parent-reported behavior problems among LT toddlers across early childhood. Early identification of and intervention for behavior problems associated with LT in toddlerhood is essential to alleviate their behavior problems later in preschool years. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - June 17, 2022 Category: Neurology Source Type: research

The importance of deep speech phenotyping for neurodevelopmental and genetic disorders: a conceptual review
ConclusionsThough speech and language are distinct, specific types of developmental speech disorder are associated with far-reaching effects on verbal communication in children with neurodevelopmental disorders. Therefore, detailed speech phenotyping, in collaboration with experts on pediatric speech development and disorders, can lead us to a new generation of discoveries about how speech development is affected in genetic disorders. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - June 11, 2022 Category: Neurology Source Type: research

An electronic health record (EHR) phenotype algorithm to identify patients with attention deficit hyperactivity disorders (ADHD) and psychiatric comorbidities
ConclusionWe established a new algorithm and demonstrated the feasibility of the electronic algorithm approach to accurately diagnose ADHD and comorbid conditions, verifying the efficiency of our large biorepository for further genetic discovery-based analyses.Trial registrationClinicalTrials.gov,NCT02286817. First posted on 10 November 2014. ClinicalTrials.gov,NCT02777931. First posted on 19 May 2016. ClinicalTrials.gov,NCT03006367. First posted on 30 December 2016. ClinicalTrials.gov,NCT02895906. First posted on 12 September 2016. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - June 11, 2022 Category: Neurology Source Type: research

Evidence of neuroinflammation and immunotherapy responsiveness in individuals with down syndrome regression disorder
ConclusionsThis study reports the novel presence of neurodiagnostic testing abnormalities in individuals with Down syndrome regression disorder, providing credence to this symptom cluster potentially being of neurologic and/or neuroimmunologic etiology. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - June 3, 2022 Category: Neurology Source Type: research