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.

An overview of current advances in perinatal alcohol exposure and pathogenesis of fetal alcohol spectrum disorders
AbstractThe adverse use of alcohol is a serious global public health problem. Maternal alcohol consumption during pregnancy usually causes prenatal alcohol exposure (PAE) in the developing fetus, leading to a spectrum of disorders known as fetal alcohol spectrum disorders (FASD) and even fetal alcohol syndrome (FAS) throughout the lifelong sufferers. The prevalence of FASD is approximately 7.7 per 1,000 worldwide, and is even higher in developed regions. Generally, Ethanol in alcoholic beverages can impair embryonic neurological development through multiple pathways leading to FASD. Among them, the leading mechanism of FAS...
Source: Journal of Neurodevelopmental Disorders - April 20, 2024 Category: Neurology Source Type: research

Neurobehavioral outcomes of neonatal asymptomatic congenital cytomegalovirus infection at 12-months
ConclusionsThese results indicate that at 12  months of age, infants with asymptomatic cCMV are not statistically different from controls in a number of neurobehavioral domains. Although follow-up is ongoing, these observations provide reassurance about neurobehavioral outcomes for infants with asymptomatic cCMV and inform the ongoing discuss ion around universal screening. Additional follow-up will be necessary to understand the longer-term outcomes of these children. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - April 18, 2024 Category: Neurology Source Type: research

Exploring an objective measure of overactivity in children with rare genetic syndromes
This study is the first to examine the sensitivity of actigraphy to overactivity across rare genetic syndromes associated with intellectual disability, through comparisons with typically-developing peers and questionnaire overactivity estimates.MethodsA secondary analysis of actigraphy data and overactivity estimates from The Activity Questionnaire (TAQ) was conducted for children aged 4-15 years with Smith-Magenis syndrome (N=20), Angelman syndrome (N=26), tuberous sclerosis complex (N=16), and typically-developing children (N=61). Actigraphy data were summarized using the M10 non-parametric circadian rhythm variable, and...
Source: Journal of Neurodevelopmental Disorders - April 18, 2024 Category: Neurology Source Type: research

Characterization of early markers of disease in the mouse model of mucopolysaccharidosis IIIB
ConclusionsTogether, these results indicate disease markers are present as early as the first two weeks postnatal in this model. Further, this model recapitulates social, sensory and fear-related clinical features. Our study using a mouse model of MPS IIIB provides essential baseline information that will be useful in future evaluations of potential treatments. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - April 17, 2024 Category: Neurology Source Type: research

The Brain Gene Registry: a data snapshot
AbstractMonogenic disorders account for a large proportion of population-attributable risk for neurodevelopmental disabilities. However, the data necessary to infer a causal relationship between a given genetic variant and a particular neurodevelopmental disorder is often lacking. Recognizing this scientific roadblock, 13 Intellectual and Developmental Disabilities Research Centers (IDDRCs) formed a consortium to create the Brain Gene Registry (BGR), a repository pairing clinical genetic data with phenotypic data from participants with variants in putative brain genes. Phenotypic profiles are assembled from the electronic ...
Source: Journal of Neurodevelopmental Disorders - April 17, 2024 Category: Neurology Source Type: research

Shared and divergent mental health characteristics of ADNP-, CHD8- and DYRK1A-related neurodevelopmental conditions
ConclusionsDespite shared associations with autism and intellectual disability, disruptive variants inADNP,CHD8, andDYRK1A may yield variable psychiatric phenotypes among children and adolescents. With replication in larger samples over time, efforts such as these may contribute to improved clinical care for affected children and adolescents, allow for earlier identification of emerging mental health difficulties, and promote early intervention to alleviate concerns and improve quality of life. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - April 15, 2024 Category: Neurology Source Type: research

Neurofeedback training of executive function in autism spectrum disorder: distinct effects on brain activity levels and compensatory connectivity changes
ConclusionsNeurofeedback seems to induce a higher between-group similarity of the whole-brain activity levels (including the target ROI) which might be promoted by changes in connectivity between the DLPFC and both high and low-level areas, including motor, visual and MDN regions. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - April 11, 2024 Category: Neurology Source Type: research

Genetic determinants of global developmental delay and intellectual disability in Ukrainian children
ConclusionsThis is the first comprehensive study on genetic causes of GDD/ID conducted in Ukraine. This study provides the first comprehensive investigation of the genetic causes of GDD/ID in Ukraine. It presents a substantial dataset of diagnosed genetic conditions associated with GDD/ID. The results support the utilization of NGS gene panels and WES as first-line diagnostic tools for GDD/ID cases, particularly in resource-limited settings. A comprehensive approach to resolving VUS, including computational effect prediction, population frequency analysis, and phenotype assessment, can aid in further reclassification of de...
Source: Journal of Neurodevelopmental Disorders - March 27, 2024 Category: Neurology Source Type: research

Differential cognitive and behavioral development from 6 to 24  months in autism and fragile X syndrome
ConclusionsOur results demonstrate detectable group differences by 6  months between FXS and FH-ASD as well as differential trajectories on each domain throughout infancy. This work further highlights an earlier onset of global cognitive delays in FXS and, conversely, a protracted period of more slowly emerging delays in FH-ASD. Divergent neural and cognitive develo pment in infancy between FXS and FH-ASD contributes to our understanding of important distinctions in the development and behavioral phenotype of these two groups. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - March 20, 2024 Category: Neurology Source Type: research

Social skills in neurodevelopmental disorders: a study using role-plays to assess adolescents and young adults with 22q11.2 deletion syndrome and autism spectrum disorders
ConclusionsThis study highlights the need to train social skills through tailored interventions to target the specific difficulties of each clinical population. It also highlights the importance of combining measures as they do not necessarily provide the same outcome. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - March 18, 2024 Category: Neurology Source Type: research

Using team-based precision medicine to advance understanding of rare genetic brain disorders
We describe a multidisciplinary teamwork approach known as “Operation IDD Gene Team” developed by the Rose F. Kennedy Intellectual and Developmental Disabilities Research Center (RFK IDDRC) at the Albert Einstein College of Medicine. This initiative brings families affected by rare genetic diseases that cause intellectual and developmental disability to gether with physicians, basic scientists, and their trainees. At team meetings, family members share their child’s medical and personal history, physicians describe the broader clinical consequences of the condition, and scientists provide accessible tutorials focused...
Source: Journal of Neurodevelopmental Disorders - March 15, 2024 Category: Neurology Source Type: research

Protein Kinase A in neurological disorders
AbstractCyclic adenosine 3 ’, 5’ monophosphate (cAMP)-dependent Protein Kinase A (PKA) is a multi-functional serine/threonine kinase that regulates a wide variety of physiological processes including gene transcription, metabolism, and synaptic plasticity. Genomic sequencing studies have identified both germline and somat ic variants of the catalytic and regulatory subunits of PKA in patients with metabolic and neurodevelopmental disorders. In this review we discuss the classical cAMP/PKA signaling pathway and the disease phenotypes that result from PKA variants. This review highlights distinct isoform-specific cogni t...
Source: Journal of Neurodevelopmental Disorders - March 13, 2024 Category: Neurology Source Type: research

Etiologic heterogeneity, pleiotropy, and polygenicity in behaviorally defined intellectual and developmental disabilities
(Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - March 13, 2024 Category: Neurology Source Type: research

Conducting head-mounted eye-tracking research with young children with autism and children with increased likelihood of later autism diagnosis
ConclusionsResearch capitalizing on this methodology has the potential to reveal early, socially-mediated gaze behaviors that are relevant for autism screening, diagnosis, and intervention purposes. We hope that our efforts in documenting our study methodology will help researchers and clinicians effectively study early naturally-occuring gaze behaviors of children during non-experimental contexts across the spectrum and other developmental disabilities using head-mounted eye-tracking. Ultimately, such applications may increase the generalizability of results, better reflect the diversity of individual characteristics, and...
Source: Journal of Neurodevelopmental Disorders - March 4, 2024 Category: Neurology Source Type: research

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