Computational analysis of cortical neuronal excitotoxicity in a large animal model of neonatal brain injury
ConclusionsOur model identifies new dynamics of critical components in the Ca2+/CaM-Src signaling pathway leading to neuronal injury and provides a feasible framework for drug efficacy studies in translational models of neonatal brain injury for the prevention of intellectual and developmental disabilities. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - March 29, 2022 Category: Neurology Source Type: research

The behavioural phenotype of SATB2-associated syndrome: a within-group and cross-syndrome analysis
ConclusionsThis study highlights the importance of behavioural comparisons to well-delineated groups and the utility of fine-grained item-level analyses to elucidate aspects of behaviour that might be syndrome related or shared across neurodevelopmental disorders. Future research is needed to further describe the distinctive repetitive and autistic behavioural phenotype in SAS. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - March 29, 2022 Category: Neurology Source Type: research

Validation of a computational phenotype for finding patients eligible for genetic testing for pathogenic PTEN variants across three centers
ConclusionsComputational phenotypes have the potential to enable the timely and accurate diagnosis of rare genetic diseases such as PHTS by identifying patient cohorts for genetic sequencing and testing. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - March 23, 2022 Category: Neurology Source Type: research

Neuropsychological changes in FMR1 premutation carriers and onset of fragile X-associated tremor/ataxia syndrome
ConclusionsAccelerated decline in executive function and subtle motor changes, likely mediated by frontocerebellar circuits, may precede, and then track with the emergence of formal FXTAS symptoms. Further research to develop and harmonize clinical assessment ofFMR1 carriers across centers is needed to prepare for future prophylactic and treatment trials for this disorder. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - March 23, 2022 Category: Neurology Source Type: research

Conducting clinical trials in persons with Down syndrome: summary from the NIH INCLUDE Down syndrome clinical trials readiness working group
AbstractThe recent National Institute of Health (NIH) INCLUDE (INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE) initiative has bolstered capacity for the current increase in clinical trials involving individuals with Down syndrome (DS). This new NIH funding mechanism offers new opportunities to expand and develop novel approaches in engaging and effectively enrolling a broader representation of clinical trials participants addressing current medical issues faced by individuals with DS. To address this opportunity, the NIH assembled leading clinicians, scientists, and representatives...
Source: Journal of Neurodevelopmental Disorders - March 23, 2022 Category: Neurology Source Type: research

mRNA expression analysis of the hippocampus in a vervet monkey model of fetal alcohol spectrum disorder
ConclusionPrenatal alcohol exposure leads to global downregulation in mRNA expression. The cellular interference model ofEFNB1 provides a potential clue regarding how genetically susceptible individuals may develop the phenotypic triad generally associated with classic fetal alcohol syndrome. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - March 19, 2022 Category: Neurology Source Type: research

Neural patterns elicited by lexical processing in adolescents with specific language impairment: support for the procedural deficit hypothesis?
ConclusionThe behavioral data suggests intact semantic conceptual knowledge, but impaired lexical phonological processing for the adolescents with SLI, consistent with the PDH. The pattern of cortical activation in response to semantic congruency and word frequency suggests, however, that the processing of lexical-semantic and lexical-phonological information by adolescents with a history of SLI may be supported by both overlapping and nonoverlapping neural generators to those of CA controls, and a greater reliance on declarative memory strategies. Taken together, the findings from this study suggest that the underlying re...
Source: Journal of Neurodevelopmental Disorders - March 19, 2022 Category: Neurology Source Type: research

Using causal methods to map symptoms to brain circuits in neurodevelopment disorders: moving from identifying correlates to developing treatments
AbstractA wide variety of model systems and experimental techniques can provide insight into the structure and function of the human brain in typical development and in neurodevelopmental disorders. Unfortunately, this work, whether based on manipulation of animal models or observational and correlational methods in humans, has a high attrition rate in translating scientific discovery into practicable treatments and therapies for neurodevelopmental disorders.With new computational and neuromodulatory approaches to interrogating brain networks, opportunities exist for “bedside-to bedside-translation” with a potentially ...
Source: Journal of Neurodevelopmental Disorders - March 12, 2022 Category: Neurology Source Type: research

Patterns and predictors of adaptive skills in 2- to 7-year-old children with Down syndrome
ConclusionThese findings underscore the importance of individualizing intervention programs focused on improving the adaptive skills of young children with Down syndrome based on consideration of the child ’s relative adaptive strengths and weaknesses. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - March 12, 2022 Category: Neurology Source Type: research

The effect of autistic traits on response to and side-effects of pharmacological ADHD treatment in children with ADHD: results from a prospective clinical cohort
ConclusionsOur results did not implicate that ADHD patients with concomitant ASD symptoms have decreased treatment effect of ADHD medication than patients with ADHD without concomitant ASD symptoms. Neither did the results support that ADHD patients with ASD symptoms experienced significantly more side-effects than ADHD patients without ASD symptoms. Although, we did not analyze different medications separately, this is in line with the only previous study directly comparing methylphenidate treatment in children with or without ASD.Trial registrationNCT02136147, May 12, 2014. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - March 6, 2022 Category: Neurology Source Type: research

Innovative computational approaches shed light on genetic mechanisms underlying cognitive impairment among children born extremely preterm
ConclusionsWe conducted a novel computational analysis by utilizing an LPA-inferred phenotype with genetics data for the first time. This study suggests that rs11829294 and its LD buddies have potential regulatory roles on genes that could impact neurocognitive impairment for extreme preterm born children. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - March 3, 2022 Category: Neurology Source Type: research

Atypical connectivity in the cortico-striatal network in NF1 children and its relationship with procedural perceptual-motor learning and motor skills
ConclusionNF1 children present atypical hyperconnectivity in cortico-striatal connections. The relationship with motor skills could suggest a sensorimotor dysfunction already found in children with developmental coordination disorder. These abnormalities are not linked to procedural perceptual-motor learning assessed by SRTT. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - March 1, 2022 Category: Neurology Source Type: research

Altered subcortical and cortical brain morphology in adult women with 47,XXX: a 7-Tesla magnetic resonance imaging study
ConclusionsResults suggest that a supernumerary X chromosome in females affects subcortical and lateral ventricle volumes, and cortical surface area in adulthood. 47,XXX may serve as a suitable model for studying genetic influences on structural brain morphology across developmental stages in order to understand neurobiological mechanisms underlying cognitive and behavioural impairments. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - February 23, 2022 Category: Neurology Source Type: research

Childhood infections and autism spectrum disorders and/or intellectual disability: a register-based cohort study
ConclusionsInfections during childhood may contribute to a later diagnosis of ID and ASD. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - February 13, 2022 Category: Neurology Source Type: research

The research landscape of tuberous sclerosis complex –associated neuropsychiatric disorders (TAND)—a comprehensive scoping review
ConclusionsDespite the recent increase in TAND research, studies that represent participants across the lifespan, LMIC research sites and non-pharmacological interventions were identified as future priorities. The quality of cohort studies requires improvement, to which the use of standardised direct behavioural assessments may contribute. In human studies, the academic level in particular warrants further investigation. Remote technologies could help to address many of the TAND knowledge gaps identified. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - February 13, 2022 Category: Neurology Source Type: research