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Firing activity of locus coeruleus noradrenergic neurons decreases in necdin-deficient mice, an animal model of Prader –Willi syndrome
ConclusionsLC-NE neuronal firing activity decreased in necdin-deficient mice, suggesting that LC, the primary source of norepinephrine in the central nervous system, is possibly involved in PWS pathogenesis. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - July 28, 2020 Category: Neurology Source Type: research

Towards greater transparency in neurodevelopmental disorders research: use of a proposed workflow and propensity scores to facilitate selection of matched groups
ConclusionsIt is important to provide clear documentation regarding the selection process to establish matched groups. This documentation ensures better transparency in participant selection and data analysis in NDD research. We hope the adoption of such a workflow will ultimately advance our ability to replicate findings and help improve the lives of individuals with NDDs. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - July 23, 2020 Category: Neurology Source Type: research

Cortisol profiles and clinical severity in MECP2 duplication syndrome
ConclusionsFuture mechanistic studies will have to determine whether the declining CAR in MDS is attributable to problems with “flip-flop switching” of regional brain activation (involving the suprachiasmatic nucleus and the hippocampus, and the HPA axis) that is responsible for the switch from reduced to increased adrenal sensitivity. Taken together, results suggest the possibility that cortisol profiles could potentia lly be a biomarker of clinical severity and utilized for the purposes of patient stratification for future clinical trials in MDS. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - July 21, 2020 Category: Neurology Source Type: research

Expressive language development in adolescents with Down syndrome and fragile X syndrome: change over time and the role of family-related factors
ConclusionsOur results suggest that, during the adolescent period for males with DS or FXS, there is an increase in the amount of talk produced in conversational contexts, but also a decrease in the quality of the language produced. In addition, our results indicate syndrome-specificity for aspects of expressive language development and reinforce the protective role of family-related factors. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - June 26, 2020 Category: Neurology Source Type: research

Effects of a postnatal Atrx conditional knockout in neurons on autism-like behaviours in male and female mice
ConclusionThe postnatal knockout ofAtrx in forebrain excitatory neurons does not lead to autism-related behaviours in male or female mice. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - June 23, 2020 Category: Neurology Source Type: research

Using generalizability theory to evaluate the comparative reliability of developmental measures in neurogenetic syndrome and low-risk populations
ConclusionsOur findings suggest that the CSBS-ITC communicates different information about the reliability of stability versus change, in low-risk control and NGS samples, respectively, and that psychometric approaches like Generalizability Theory can provide more complete information about the reliability of existing measures and inform decisions about how measures are used in research on early development in NGS. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - June 4, 2020 Category: Neurology Source Type: research

Hippocampal transcriptome analysis following maternal separation implicates altered RNA processing in a mouse model of fetal alcohol spectrum disorder
ConclusionsTogether, transcriptional control in the hippocampus is implicated as a potential underlying mechanism leading to anxiety-like behavior via environmental insults. Further research is required to elucidate the mechanism involved and use this insight towards early diagnosis and amelioration strategies involving children born with FASD. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - May 15, 2020 Category: Neurology Source Type: research

Transcriptome analysis of neural progenitor cells derived from Lowe syndrome induced pluripotent stem cells: identification of candidate genes for the neurodevelopmental and eye manifestations
ConclusionOverall, the RNA-seq findings present several candidate genes that could help explain the underlying basis for the neurodevelopmental and eye problems seen in boys with LS. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - May 10, 2020 Category: Neurology Source Type: research

Developmental studies in fragile X syndrome
AbstractFragile X syndrome (FXS) is the most common single gene cause of autism and intellectual disabilities. Humans with FXS exhibit increased anxiety, sensory hypersensitivity, seizures, repetitive behaviors, cognitive inflexibility, and social behavioral impairments. The main purpose of this review is to summarize developmental studies of FXS in humans and in the mouse model, theFmr1 knockout mouse. The literature presents considerable evidence that a number of early developmental deficits can be identified and that these early deficits chart a course of altered developmental experience leading to symptoms well charact...
Source: Journal of Neurodevelopmental Disorders - May 1, 2020 Category: Neurology Source Type: research

Controlled trial of lovastatin combined with an open-label treatment of a parent-implemented language intervention in youth with fragile X syndrome
ConclusionParticipants in both groups demonstrated significant changes in the primary outcome measures. The magnitude of change observed across the two groups was comparable, providing additional support for the efficacy of the use of PILI in youth with FXS.Trial registrationUS National Institutes of Health (ClinicalTrials.gov),NCT02642653. Registered 12/30/2015. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - April 21, 2020 Category: Neurology Source Type: research

Correction to: Expressive language sampling as a source of outcome measures for treatment studies in fragile X syndrome: feasibility, practice effects, test-retest reliability, and construct validity
In the original publication of this article [1], the author name Leonard Abbeduto was misspelled as Leonardkk Abbeduto. The original article has been corrected. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - April 1, 2020 Category: Neurology Source Type: research

Expressive language sampling as a source of outcome measures for treatment studies in fragile X syndrome: feasibility, practice effects, test-retest reliability, and construct validity
ConclusionsThe findings suggest that the ELS procedures are feasible and yield measures with adequate psychometric properties for a majority of 6 to 23  years with FXS who have ID. The procedures work equally well regardless of level of ID or degree of ASD severity. The procedures, however, are more challenging and have somewhat less adequate psychometric properties for individuals with FXS under age 12. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - March 23, 2020 Category: Neurology Source Type: research

Four-year follow-up of a randomized controlled trial of choline for neurodevelopment in fetal alcohol spectrum disorder
ConclusionsThese data support choline as a potential neurodevelopmental intervention for FASD and highlight the need for long-term follow-up to capture treatment effects on neurodevelopmental trajectories.Trial registrationClinicalTrials.Gov#NCT01149538; Registered: June 23, 2010; first enrollment July 2, 2010 (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - March 11, 2020 Category: Neurology Source Type: research

BOLD differences normally attributed to inhibitory control predict symptoms, not task-directed inhibitory control in ADHD
ConclusionsStimuli that elicit task-directed integration of neural processing in healthy subjects instead appear to be directing integrated function towards managing symptomatic behaviour in ADHD. The ability of the current approach to determine whether altered neural activities reflect comparable functions in ADHD and control groups has broad implications for the development and monitoring of therapeutic interventions. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - February 20, 2020 Category: Neurology Source Type: research

Psychiatric illness and regression in individuals with Phelan-McDermid syndrome
ConclusionsThis study confirms that individuals with PMS are at risk of developing severe neuropsychiatric illness in adolescence or early adulthood, including bipolar disorder, catatonia, and lasting regression of skills. These findings should increase the awareness of these phenotypes and lead to earlier diagnosis and the implementation of appropriate interventions. Our findings also highlight the importance of genetic testing in the work-up of individuals with intellectual disability and acute psychiatric illness or regression. Future research is needed to clarify the prevalence and nature of psychiatric disorders and r...
Source: Journal of Neurodevelopmental Disorders - February 11, 2020 Category: Neurology Source Type: research