Reflections on the genetics-first approach to advancements in molecular genetic and neurobiological research on neurodevelopmental disorders
ConclusionsThe genetics-first approach to research on NDDs has advanced the identification of critical protein function pathways and temporospatial expression patterns, expanding the impact of this research beyond individuals with single-gene mutations to the broader population of patients with NDDs. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - June 21, 2021 Category: Neurology Source Type: research

Behavioral features in Prader-Willi syndrome (PWS): consensus paper from the International PWS Clinical Trial Consortium
AbstractPrader-Willi syndrome (PWS) is a rare neurodevelopmental genetic disorder associated with a characteristic behavioral phenotype that includes severe hyperphagia and a variety of other behavioral challenges such as temper outbursts and anxiety. These behaviors have a significant and dramatic impact on the daily functioning and quality of life for the person with PWS and their families. To date, effective therapies addressing these behavioral challenges have proven elusive, but several potential treatments are on the horizon. However, a limiting factor for treatment studies in PWS is the lack of consensus in the fiel...
Source: Journal of Neurodevelopmental Disorders - June 21, 2021 Category: Neurology Source Type: research

Inter-rater reliability of subthreshold psychotic symptoms in individuals with 22q11.2 deletion syndrome
ConclusionsOur results show that trained clinicians can reliably screen for subthreshold psychotic symptoms in individuals with 22q11.2DS. To increase assessment reliability, we suggest specific clarifications and simplifications to the standard SIPS interview for future studies. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - June 14, 2021 Category: Neurology Source Type: research

Early differences in auditory processing relate to Autism Spectrum Disorder traits in infants with Neurofibromatosis Type I
ConclusionsThese findings represent the first demonstration of atypical brain responses to sounds in infants with NF1 and suggest they may relate to the likelihood of later ASD. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - May 28, 2021 Category: Neurology Source Type: research

Self-reported psychological disorders among the mothers of children with autism spectrum disorder, type 1 diabetes mellitus, and typically developed children
ConclusionMothers of children with ASD should be assessed for the presence of depression following diagnosis. Mothers of children with type 1 diabetes require careful monitoring for the effects of anxiety and stress on their mental health and therefore their ability to cope with diabetes management plans.Trial registrationNot applicable. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - May 22, 2021 Category: Neurology Source Type: research

A multi-study examination of the role of repeated spaced retrieval in the word learning of children with developmental language disorder
ConclusionsOverall, the findings support the continued refinement of these types of repeated spaced retrieval procedures, as they may have potential to serve as effective approaches to intervention. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - May 15, 2021 Category: Neurology Source Type: research

Co-occurring hydrocephalus in autism spectrum disorder: a Danish population-based cohort study
ConclusionsGiven the considerable risk of hydrocephalus among patients with autism spectrum disorder, we suggest that patients with autism spectrum disorder should be evaluated for co-occurring hydrocephalus on a routine basis as timely neurosurgical intervention is important. Likewise, attention must be paid to traits of autism spectrum disorder in children with hydrocephalus. The results of this study call for future investigations on a potential shared aetiology between hydrocephalus and autism spectrum disorder, including the role abnormal CSF dynamics in the pathogenesis of autism spectrum disorder. (Source: Journal o...
Source: Journal of Neurodevelopmental Disorders - April 28, 2021 Category: Neurology Source Type: research

FOXP1 syndrome: a review of the literature and practice parameters for medical assessment and monitoring
AbstractFOXP1 syndrome is a neurodevelopmental disorder caused by mutations or deletions that disrupt the forkhead box protein 1 (FOXP1) gene, which encodes a transcription factor important for the early development of many organ systems, including the brain. Numerous clinical studies have elucidated the role ofFOXP1 in neurodevelopment and have characterized a phenotype. FOXP1 syndrome is associated with intellectual disability, language deficits, autism spectrum disorder, hypotonia, and congenital anomalies, including mild dysmorphic features, and brain, cardiac, and urogenital abnormalities. Here, we present a review of...
Source: Journal of Neurodevelopmental Disorders - April 23, 2021 Category: Neurology Source Type: research

White matter microstructure associations with episodic memory in adults with Down syndrome: a tract-based spatial statistics study
AbstractBackgroundNearly all persons with Down syndrome will show pathology of Alzheimer ’s disease in their 40s. There is a critical need for studies to identify early biomarkers of these various pathological changes of Alzheimer’s disease in the Down syndrome population and understand the relationship of these biomarkers to cognitive symptoms in order to inform clinical trials. Al though Alzheimer’s disease is often considered a disease of gray matter, white matter degeneration has been documented during the preclinical stage of Alzheimer’s disease. The current study examined the association betwe...
Source: Journal of Neurodevelopmental Disorders - April 20, 2021 Category: Neurology Source Type: research

Capturing cognitive and behavioral variability among individuals with Down syndrome: a latent profile analysis
ConclusionsThese findings highlight the importance of subtyping the cognitive and behavioral phenotype among individuals with Down syndrome to identify more homogeneous classes for future intervention and etiologic studies. Results also demonstrate the feasibility of using latent profile analysis to distinguish subtypes in this population. Limitations and future directions are discussed. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - April 19, 2021 Category: Neurology Source Type: research

mTOR inhibitor improves autistic-like behaviors related to Tsc2 haploinsufficiency but not following developmental status epilepticus
ConclusionsThese findings may contribute to an explanation why ASD symptoms in individuals with TSC, where comorbid early-onset epilepsy is common, were not reliably ameliorated by mTOR inhibitors  in clinical studies. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - April 17, 2021 Category: Neurology Source Type: research

Social cognition in 22q11.2 deletion syndrome and idiopathic developmental neuropsychiatric disorders
ConclusionsOur findings indicate social cognitive deficits are more prominent in 22q11DS than idiopathic neuropsychiatric conditions across the age range, even after adjusting for global intellectual function. These results contribute to our understanding of the intellectual and social vulnerabilities of 22q11DS in comparison to idiopathic neuropsychiatric disorders. Our findings of robust associations between intellectual ability and social cognition emphasizes the importance of accounting for neurocognitive deficits in social skills interventions and tailoring these existing treatment models for 22q11DS and other populat...
Source: Journal of Neurodevelopmental Disorders - April 17, 2021 Category: Neurology Source Type: research

Spoken language outcome measures for treatment studies in Down syndrome: feasibility, practice effects, test-retest reliability, and construct validity of variables generated from expressive language sampling
AbstractBackgroundThe purpose of this study was to evaluate expressive language sampling (ELS) as a procedure for generating spoken language outcome measures for treatment research in Down syndrome (DS). We addressed (a) feasibility, (b) practice effects across two short-term administrations, (c) test-retest reliability across two short-term administrations, (d) convergent and discriminant  construct validity, and (e) considered comparisons across the conversation and narration contexts.MethodParticipants were 107 individuals with DS between 6 and 23 years of age who presented with intellectual disability (IQ
Source: Journal of Neurodevelopmental Disorders - April 8, 2021 Category: Neurology Source Type: research

Modeling familial predictors of proband outcomes in neurogenetic disorders: initial application in XYY syndrome
ConclusionsWe present a suite of generalizable methods for modeling variable penetrance in aneuploidy and CNV carriers using family data. These methods update estimates of phenotypic penetrance for XYY and suggest that the predictive utility of family data is likely to vary for different traits and different gene dosage disorders.Trial registrationsClinicalTrials.govNCT00001246, “89-M-0006: Brain Imaging of Childhood Onset Psychiatric Disorders, Endocrine Disorders and Healthy Controls.” Date of registry: 01 October 1989. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - March 22, 2021 Category: Neurology Source Type: research

Early behavioral and physiological markers of social anxiety in infants with fragile X syndrome
ConclusionsFindings suggest that infants with FXS show both behavioral and physiological markers of social anxiety at 12 months old using a biobehavioral approach with multiple sources of input. Results highlight the importance of a multi-method approach to understanding the complex early emergent characteristics of anxiety in infants with FXS. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - March 20, 2021 Category: Neurology Source Type: research

Shared developmental gait disruptions across two mouse models of neurodevelopmental disorders
ConclusionsThese findings suggest that the subcomponents of gait affected in NDDs show overlap between disorders as well as some disorder-specific features, which may change over the course of development. Our incorporation of spatial, temporal, and postural gait measures also provides a template for gait characterization in other NDD models and a platform to examining circuits or longitudinal therapeutics. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - March 20, 2021 Category: Neurology Source Type: research

Intellectual abilities, language comprehension, speech, and motor function in children with spinal muscular atrophy type 1
AbstractBackgroundSpinal muscular atrophy (SMA) is a chronic, neuromuscular disease characterized by degeneration of spinal cord motor neurons, resulting in progressive muscular atrophy and weakness. SMA1 is the most severe form characterized by significant bulbar, respiratory, and motor dysfunction. SMA1 prevents children from speaking a clearly understandable and fluent language, with their communication being mainly characterized by eye movements, guttural sounds, and anarthria (type 1a); severe dysarthria (type 1b); and nasal voice and dyslalia (type 1c).The aim of this study was to analyze for the first time cognitive...
Source: Journal of Neurodevelopmental Disorders - February 2, 2021 Category: Neurology Source Type: research

MEG-PLAN: a clinical and technical protocol for obtaining magnetoencephalography data in minimally verbal or nonverbal children who have autism spectrum disorder
ConclusionsChildren who have ASD who are minimally verbal/nonverbal, and often have co-occurring cognitive impairments, can be effectively and comfortably supported to complete an electrophysiological exam that yields valid and reproducible results. MEG-PLAN is a protocol that can be disseminated and implemented across research teams and adapted across technologies and neurodevelopmental disorders to collect electrophysiology and neuroimaging data in previously understudied groups of individuals. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - January 23, 2021 Category: Neurology Source Type: research

Longitudinal change in restricted and repetitive behaviors from 8-36  months
ConclusionsThe RBS-EC is sensitive enough to measure the presence of RRBs in a TD sample, as well as their decline with age. Using factor score estimates of each subscale adjusted for non-invariance allowed us to more precisely estimate change in these behaviors over time. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - January 11, 2021 Category: Neurology Source Type: research

Evidence for decreased parasympathetic response to a novel peer interaction in older children with autism spectrum disorder: a case-control study
ConclusionsPhysiological regulation, age, and social functioning likely influence stress responses to peer interactions for youth with ASD. Parasympathetic functioning, as opposed to sympathetic arousal, may be especially important in behavioral regulation, as older youth with ASD demonstrated atypical regulation and response to the social interaction paradigm. Future studies should help to further elucidate the developmental factors contributing to stress responses in ASD, the impact of physiological response on observable social behavior, and potential long-term consequences of chronic social stress in youth with ASD. (S...
Source: Journal of Neurodevelopmental Disorders - January 9, 2021 Category: Neurology Source Type: research

Associations between sensory processing and electrophysiological and neurochemical measures in children with ASD: an EEG-MRS study
ConclusionsAlthough we replicated prior reports of decreased alpha power in ASD, atypically reduced alpha was not related to neurochemical differences or sensory symptoms in ASD. Instead, reduced Glx in the temporal-parietal cortex was associated with greater hyper-sensitivity in ASD. Together, these findings may provide insight into the neural underpinnings of sensory processing differences present in ASD. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - January 6, 2021 Category: Neurology Source Type: research

Read my lips! Perception of speech in noise by preschool children with autism and the impact of watching the speaker ’s face
ConclusionsYoung children both with and without ASD show poorer performance comprehending speech in the presence of another talker than in quiet. However, results suggest that neurotypical children may be better able to make use of face cues to partially counteract the effects of noise. Children with ASD varied in their use of face cues, but those children who spent more time attending to the face of the target speaker appeared less disadvantaged by the presence of background noise, indicating a potential path for future interventions. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - January 5, 2021 Category: Neurology Source Type: research

Development of an adapted Clinical Global Impression scale for use in Angelman syndrome
ConclusionsRigorous training and careful calibration for clinicians will allow the CGI-S/-I-AS scales to be reliable in the context of randomized controlled trials. The CGI-S/-I-AS scales are being utilized in a Phase 3 trial of gaboxadol for the treatment of AS. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - January 4, 2021 Category: Neurology Source Type: research

Controlling litter effects to enhance rigor and reproducibility with rodent models of neurodevelopmental disorders
AbstractResearch with rodents is crucial for expanding our understanding of genetic and environmental risk factors for neurodevelopmental disorders (NDD). However, there is growing concern about the number of animal studies that are difficult to replicate, potentially undermining the validity of results. These concerns have prompted funding agencies and academic journals to implement more rigorous standards in an effort to increase reproducibility in research. However, these standards fail to address a major source of variability in rodent research brought on by the “litter effect,” the fact that rodents from t...
Source: Journal of Neurodevelopmental Disorders - January 4, 2021 Category: Neurology Source Type: research

Behavioural and neural markers of tactile sensory processing in infants at elevated likelihood of autism spectrum disorder and/or attention deficit hyperactivity disorder
ConclusionsReduced tactile neural repetition suppression is an early marker of later ASD traits in infants at elevated likelihood of ASD or ADHD, suggesting that a common pathway to later ASD traits exists despite different familial backgrounds. Elevated tactile sensory seeking may act as a protective factor, mitigating the relationship between early tactile neural repetition suppression and later ASD traits. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - January 4, 2021 Category: Neurology Source Type: research

Medications for attention-deficit/hyperactivity disorder in individuals with or without coexisting autism spectrum disorder: analysis of data from the Swedish prescribed drug register
ConclusionsThe findings indicate that there are differences in the medical treatment of individuals with or without ASD. If these differences are due to different medication responses in ASD or due to other factors such as clinicians ’ perceptions of medication effects in patients with ASD, needs to be further studied. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - December 23, 2020 Category: Neurology Source Type: research

Psychosocial deprivation and receptive language ability: a two-sample study
ConclusionExperiences of psychosocial deprivation may have long-lasting consequences for receptive language ability, extending to age 18  years. Psychosocial deprivation is an important prospective predictor of poorer receptive language.Trial registrationBucharest Early Intervention ProjectClinicalTrials.gov Identifier:NCT00747396 (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - December 16, 2020 Category: Neurology Source Type: research

Long-term spatial tracking of cells affected by environmental insults
ConclusionThe reporter transgenic mice allowed us to trace the cells that once responded to prenatal environmental stress and the progeny derived from these cells long after the exposure in postnatal animals. Tracing of these cells indicates that the impact of prenatal exposure on neural progenitor cells can lead to functional abnormalities in their progeny cells in the postnatal brain. Further studies using more clinically relevant exposure models are warranted to explore this mechanism. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - December 16, 2020 Category: Neurology Source Type: research

Maternal immune response and air pollution exposure during pregnancy: insights from the Early Markers for Autism (EMA) study
AbstractBackgroundPerinatal exposure to air pollution and immune system dysregulation are two factors consistently associated with autism spectrum disorders (ASD) and other neurodevelopmental outcomes. However, little is known about how air pollution may influence maternal immune function during pregnancy.ObjectivesTo assess the relationship between mid-gestational circulating levels of maternal cytokines/chemokines and previous month air pollution exposure across neurodevelopmental groups, and to assess whether cytokines/chemokines mediate the relationship between air pollution exposures and risk of ASD and/or intellectua...
Source: Journal of Neurodevelopmental Disorders - December 16, 2020 Category: Neurology Source Type: research

Developmental exposure to diesel exhaust upregulates transcription factor expression, decreases hippocampal neurogenesis, and alters cortical lamina organization: relevance to neurodevelopmental disorders
ConclusionsThese results provide additional evidence to previous findings indicating the ability of developmental DE exposure to cause biochemical/molecular and behavioral alterations that may be involved in neurodevelopmental disorders such as ASD. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - December 16, 2020 Category: Neurology Source Type: research

Exploratory spatial analysis of autism rates in New York school districts: role of sociodemographic and language differences
ConclusionsSchools with higher rates of ASD and ELL students tend to be concentrated in urban regions throughout New York and have higher representation of Black and Hispanic/Latino students, as well as higher rates of learning disabilities in general. Further research is warranted to explore possible reasons for this phenomenon. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - December 16, 2020 Category: Neurology Source Type: research

Translational outcomes relevant to neurodevelopmental disorders following early life exposure of rats to chlorpyrifos
ConclusionsThis work generated and  characterized a rat model of developmental CPF exposure that exhibits adverse behavioral phenotypes resulting from perinatal exposures at levels that did not significantly inhibit acetylcholinesterase activity in the brain or blood. These data suggest that current regulations regarding safe levels of CPF need to be reconsidered. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - December 16, 2020 Category: Neurology Source Type: research

Epigenetics modifiers: potential hub for understanding and treating neurodevelopmental disorders from hypoxic injury
ConclusionsThis review focuses on our current understanding of the intersection between epigenetics, brain development, and hypoxia. Opportunities for the use of epigenetics as biomarkers of neurodevelopmental disease after hypoxic injury and potential clinical epigenetics targets to improve outcomes after injury are also discussed. While there have been many published studies on the epigenetics of hypoxia, more are needed in the developing brain in order to determine which epigenetic pathways may be most important for mitigating the long-term consequences of hypoxic brain injury. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - December 16, 2020 Category: Neurology Source Type: research

Early life stress and development: potential mechanisms for adverse outcomes
ConclusionsEarly life stress has persistent and pervasive effects on prefrontal –hypothalamic–amygdala and dopaminergic circuits that are at least partially mediated by alterations in hypothalamic–pituitary–adrenal axis function. However, to date, this research has primarily utilized methods of assessment that focus solely on children’s event exposures. Incorporating assessment of factors that influence children’s interpretation of stressors, along with stressful events, has the potential to provide further insight into the mechanisms contributing to individual differences in neurodevelo...
Source: Journal of Neurodevelopmental Disorders - December 16, 2020 Category: Neurology Source Type: research

Stunting and lead: using causal mediation analysis to better understand how environmental lead exposure affects cognitive outcomes in children
ConclusionsWe used a novel method of mediation analysis to test whether stunting  mediated the adverse effect of prenatal lead exposure on cognitive outcomes in Bangladesh. While we did not find that stunting acted as mediator of lead’s effect on cognitive development, we found significant effect modification by stunting. Our results suggest that children with stunting are mo re vulnerable to the adverse effects of low-level lead exposure. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - December 16, 2020 Category: Neurology Source Type: research

Investigating the impact of the environment on neurodevelopmental disorder
(Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - December 16, 2020 Category: Neurology Source Type: research

Risk of neurodevelopmental disorders in children born from different ART treatments: a systematic review and meta-analysis
ConclusionsPooled estimates suggest that children born after ART are at higher risk of acquiring cerebral palsy. ICSI treatment causes higher risk of intellectual disability and ASD. These findings suggest the importance of the availability of intensive care unit at the time of delivery and long-term developmental evaluation particularly in children from ICSI. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - December 13, 2020 Category: Neurology Source Type: research

Sleep characteristics and problems of 2-year-olds with Williams syndrome: relations with language and behavior
ConclusionsThe relations of nighttime sleep duration, positive screens for SRBD, and excessive daytime sleepiness to language and behavior in toddlers with WS parallel prior findings for typically developing toddlers. These results highlight the importance of screening young children with WS for sleep problems. Studies investigating the efficacy of behavioral strategies for improving sleep in children with WS are warranted. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - November 20, 2020 Category: Neurology Source Type: research

Telehealth-enabled behavioral treatment for problem behaviors in boys with fragile X syndrome: a randomized controlled trial
We examined the effect of administering an established behavior analytic intervention called functional communication training (FCT) via telehealth on levels of problem behaviors exhibited by boys with FXS. We also examined treatment acceptability, as well as the effect of the treatment on levels of parenting stress.MethodsBoys with FXS, aged 3 to 10  years, who displayed problem behaviors daily, were randomized to receive FCT via telehealth (n = 30) or treatment as usual (n = 27) over 12  weeks. Outcome measures included in-session observations of problem behavior, the Aberrant Behavior Checklist—Commu...
Source: Journal of Neurodevelopmental Disorders - November 20, 2020 Category: Neurology Source Type: research

Affective and psychotic reactivity to daily-life stress in adults with 22q11DS: a study using the experience sampling method
ConclusionThe results point toward higher levels of negative affect and differences in the perception of daily hassles in 22q11DS but no difference in affective or psychotic reactivity to stress. This study contributes to the growing literature regarding the impact of stress on the development of psychopathology in the 22q11DS population. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - November 13, 2020 Category: Neurology Source Type: research

A small-molecule screen reveals novel modulators of MeCP2 and X-chromosome inactivation maintenance
ConclusionsOur results suggest that inhibition of the JAK/STAT pathway is a new potential pathway to reinstateMeCP2 gene expression as an efficient RTT treatment. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - November 10, 2020 Category: Neurology Source Type: research

Deficits in higher visual area representations in a mouse model of Angelman syndrome
ConclusionAssaying downstream, or “higher” circuitry may provide a more sensitive measure for circuit dysfunction in mouse models of neurodevelopmental disorders.Trial registrationNot applicable. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - October 19, 2020 Category: Neurology Source Type: research

Deficits in skilled motor and auditory learning in a rat model of Rett syndrome
ConclusionsTogether, these findings illustrate novel deficits in skilled learning consistent with clinical manifestation of Rett syndrome and provide a framework for development of therapeutic strategies to improve these complex behaviors. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - September 27, 2020 Category: Neurology Source Type: research

Protective role of mirtazapine in adult female Mecp2 +/ − mice and patients with Rett syndrome
ConclusionsThis study provides the first evidence that long-term treatment of adult female heterozygousMecp2tm1.1Bird mice and adult Rett patients with the antidepressant mirtazapine is well tolerated and that it protects from disease progression and improves motor, sensory, and behavioral symptoms. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - September 27, 2020 Category: Neurology Source Type: research

Functional characterization of rare NRXN1 variants identified in autism spectrum disorders and schizophrenia
ConclusionsThe combined data suggest that missense variants inNRXN1 could be associated with phenotypes of neurodevelopmental disorders beyond the diagnosis of ASD and/or SCZ. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - September 16, 2020 Category: Neurology Source Type: research

Natural clusters of tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND): new findings from the TOSCA TAND research project
ConclusionsResults from this TOSCA research project in an independent international data set showed that the combination of cluster analysis and factor analysis may be able to identify clinically meaningful natural TAND clusters. Findings were remarkably similar to those identified in the earlier feasibility study, supporting the potential robustness of these natural TAND clusters. Further steps should include examination of larger samples, investigation of internal consistency, and evaluation of the robustness of the proposed natural clusters. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - August 31, 2020 Category: Neurology Source Type: research

Obsessive-compulsive disorder and attention-deficit/hyperactivity disorder: distinct associations with DNA methylation and genetic variation
ConclusionsOur DNAm data provide insights into the regulatory changes associated with genetic variation, highlighting their potential utility both in directing GWAS and in elucidating the pathophysiology of neurodevelopmental disorders. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - August 15, 2020 Category: Neurology Source Type: research

Properties of beta oscillations in Dup15q syndrome
ConclusionsIn this era of precision health, with pharmacological and neuromodulatory therapies being developed and tested for specific genetic etiologies of neurodevelopmental disorders, quantification and examination of mechanistic biomarkers can greatly improve clinical trials. To this end, the robust beta oscillations evident in Dup15q syndrome are clinically reproducible and stable over time. With future preclinical and computational studies that will help disentangle the underlying mechanism, it is possible that this biomarker could serve as a robust measure of drug target engagement or a proximal outcome measure in f...
Source: Journal of Neurodevelopmental Disorders - August 12, 2020 Category: Neurology Source Type: research

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