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Turner syndrome: language profile of young girls at 12 and 24 months of age
ConclusionsAlthough within normal limits, receptive language skills were found to be significantly lower than expressive language skills at both ages. Social and symbolic communication skills also were in the average range, with both showing significant improvement from 12 to 24 months based on clinical assessment. Caregiver report found that use of gestures and production of speech sounds not only improved from 12 to 24 months, but also exceeded normative expectations. Findings suggest the presence of relatively intact speech and language abilities during the first 2 years of life, with perhaps some emergent concerns for ...
Source: Journal of Neurodevelopmental Disorders - November 4, 2021 Category: Neurology Source Type: research

Neurodevelopmental and psychiatric disorders in females with Turner syndrome: a population-based study
ConclusionsFemales with Turner syndrome have an increased risk of receiving a diagnosis of neurodevelopmental or psychiatric disorder. This warrants extensive assessment of intellectual and cognitive functions from early age, and increased psychiatric vigilance should be a part of lifelong healthcare for females with Turner syndrome. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - October 27, 2021 Category: Neurology Source Type: research

Oxidative stress indices in ASD children in Sub-Sahara Africa
ConclusionReduction in Zn and Mg levels with a concurrent increase in Pb in children with ASD in this study may be the basis of inadequate TAC manifesting as increased MDA and reduced TPP levels. The attendant imbalance in oxidant/antioxidant ratio may result in abnormality in neuronal transduction leading to the abnormal cognitive and speech functions characteristic of ASD. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - October 19, 2021 Category: Neurology Source Type: research

Pre-symptomatic intervention for autism spectrum disorder (ASD): defining a research agenda
This article brings together a multidisciplinary group of experts to develop a conceptual framework for behavioral intervention, during the pre-symptomatic period prior to the consolidation of symptoms into diagnosis, in infants at very-high-likelihood for developing ASD (VHL-ASD). The ove rarching goals of this paper are to promote the development of new intervention approaches, empirical research, and policy efforts aimed at VHL-ASD infants during the pre-symptomatic period (i.e., prior to the consolidation of the defining features of ASD). (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - October 15, 2021 Category: Neurology Source Type: research

Comparison of resting-state EEG between adults with Down syndrome and typically developing controls
ConclusionsSuch EEG ‘slowing’ has previously been associated with cognitive decline in both DS and TD populations. These findings indicate the potential existence of a universal EEG signature of cognitive impairment, regardless of origin (neurodevelopmental or neurodegenerative), warranting further exploration. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - October 14, 2021 Category: Neurology Source Type: research

Increased 2-arachidonoyl-sn-glycerol levels normalize cortical responses to sound and improve behaviors in Fmr1 KO mice
ConclusionsOverall, these results indicate that increasing 2-AG levels may serve as a potential therapeutic approach to normalize cortical responses and improve behavioral outcomes in FXS and possibly other ASDs. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - October 13, 2021 Category: Neurology Source Type: research

DINOSAUR: an integrated cognitive-behavioral treatment for anxiety in young children with ASD
ConclusionsThere is a great need to develop anxiety treatments for young children with ASD. We proposed a novel integrated treatment approach that aims to alter the way young children and parents respond to fear, which could potentially improve short- and long-term mental health outcomes for this age group.Trial registrationClinicalTrials.govNCT04432077 on June 03, 2020 (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - October 11, 2021 Category: Neurology Source Type: research

Electroretinography and contrast sensitivity, complementary translational biomarkers of sensory deficits in the visual system of individuals with fragile X syndrome
ConclusionsThis study demonstrates the feasibility of using ERG and CS for assessing visual deficits in FXS and establishes the translational validity of theFmr1−/y mice phenotype to individuals with FXS. By including electrophysiological and functional readouts, the results of this study suggest the utility of both ERG and CS (ERG-CS) as complementary translational biomarkers for characterizing sensory abnormalities found in FXS, with potential applications to the clinical development of novel therapeutics that target sensory function abnormalities to treat core symptomatology in FXS.Trial registrationID-RCB number 2019...
Source: Journal of Neurodevelopmental Disorders - October 8, 2021 Category: Neurology Source Type: research

Impact of Working Together for adults with autism spectrum disorder: a multifamily group intervention
ConclusionWorking Together is a promising multi-family group psychoeducation intervention designed to improve functioning during adulthood. These findings highlight the need for more intervention services research during adulthood and specifically the need for family-centered supports. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - October 8, 2021 Category: Neurology Source Type: research

Looking for consistency in an uncertain world: test-retest reliability of neurophysiological and behavioral readouts in autism
ConclusionsThis analysis reveals that sensory ERPs and related behavior can be highly reliable across multiple measurement time-points in ASD. The data further suggest that the inter-trial and inter-participant variability reported in the ASD literature likely represents replicable individual participant neural processing differences. The stability of these neuronal readouts supports their use as biomarkers in clinical and translational studies on ASD. Given the minimum interval between test/retest sessions across our cohort, we also conclude that for the tested age-range of ~  6 to 9.4 years, these reliability measures ...
Source: Journal of Neurodevelopmental Disorders - September 30, 2021 Category: Neurology Source Type: research

Effects of sensory distraction and salience priming on emotion identification in autism: an fMRI study
ConclusionsThe results suggest that the sensory environment plays an important role in how ASD youth process social information. Additionally, we demonstrated that increasing attention to relevant social cues helps ASD youth engage frontal regions involved in higher-order social cognition, a mechanism that could be targeted in interventions. Importantly, the effect of the intervention may depend on individual differences in SOR, supporting the importance of pre-screening youth for sensory challenges prior to social interventions. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - September 23, 2021 Category: Neurology Source Type: research

The prevalence and profile of autism in individuals born preterm: a systematic review and meta-analysis
ConclusionsThe pooled prevalence estimate of autism characteristics in individuals born preterm is considerably higher than in the general population. Findings highlight the clinical need to provide further monitoring and support for individuals born preterm. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - September 21, 2021 Category: Neurology Source Type: research

Genetic counseling as preventive intervention: toward individual specification of transgenerational autism risk
ConclusionsIndividual specification of risk to offspring of adults in ASD-affected families is not straightforwardly improved by ascertainment of parental phenotype, and it is not yet clear whether genomic screening of prospective parents in families affected by idiopathic ASD is warranted as a clinical standard. Systematic screening of affected family members for heritable pathogenic variants, including rare sex-linked mutations, will identify a subset of families with substantially elevated transmission risk. Polygenic risk scores are only weakly predictive at this time but steadily improving and ultimately may enable mo...
Source: Journal of Neurodevelopmental Disorders - September 16, 2021 Category: Neurology Source Type: research

Current neurologic treatment and emerging therapies in CDKL5 deficiency disorder
ConclusionsTreatment for neurologic features of CDD is currently symptom-based and empiric rather than CDD-specific, though clinical trials for CDD are emerging. Epilepsy in this population is highly refractory, and no specific anti-seizure medication was associated with improved seizure control. Ketogenic diet is commonly used in patients with CDD. While behavioral interventions are commonly instituted, information on the use of medications for sleep, behavioral management, and movement disorders is sparse and would benefit from further characterization and optimization of treatment approaches. The heterogeneity in treatm...
Source: Journal of Neurodevelopmental Disorders - September 16, 2021 Category: Neurology Source Type: research

Predicting progress in word learning for children with autism and minimal verbal skills
ConclusionWe conclude that phonemic scoring may be a useful measure to determine proximal gains in a spoken word learning intervention. Proximal measures are particularly helpful when trying to decide if the current course of intervention should be maintained or altered.Trial registrationhttps://register.clinicaltrials.gov/prs/app/action/LoginUser?ts=2&cx=-jg9qo3. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - September 15, 2021 Category: Neurology Source Type: research