Journal of Neurodevelopmental Disorders最新文献

Background & aims: Effective treatment for anterior drooling in children with neurological disorders can lead to improved social interactions, reduced physical complications such as perioral infections, and enhanced quality of life for both patients and their parents. Elastic therapeutic taping (ETT) has emerged a novel intervention for drooling, but its evidence was limited. This study systematically reviewed the effectiveness of ETT on reducing anterior drooling in children with neurological disorders.

Methods: Multiple electronic databases, such as Ovid MEDLINE, Embase, and Cochrane Library were searched from inception till 30th October 2024. Randomized controlled trials (RCTs) were included if they: (a) used ETT as a treatment for drooling or swallowing difficulties; (b) included participants aged < 18 years old; (c) included participants with anterior drooling and neurological disorders; (d) compared effects of ETT alone or combined with other treatments (e.g. oral motor therapy (OMT)) with no taping, sham taping or other treatments, and (e) published in English. The Cochrane Risk-of-Bias tool was used to assess risk of bias for the included studies.

Results: Seven parallel-arm RCTs, which were conducted in South/southwest Asia, Africa, South America and Middle East, were included. In total, 220 children aged 1 to 11 were included, of which 97 received solely ETT in 4 studies, while 24 received ETT plus OMT in 2 studies. ETT combined with OMT was more effective in reducing drooling in the included 2 RCTs, though the results of ETT alone were inconsistent, likely due to heterogeneity observed in control conditions, application methods, and outcome measures. No side effects were reported in all studies.

Conclusions: This review suggests that ETT combined with OMT is effective in reducing drooling in children with neurological disorders, with no evidence of side effects.

Trial registration: (PROSPERO no.: CRD42023488664).

Specialization of the brain for language is early emerging and essential for language learning in young children. Fragile X Syndrome (FXS) is a neurogenetic disorder marked by high rates of delays in both expressive and receptive language, but neural activation patterns during speech and language processing are unknown. We report results of a functional Near Infrared Spectroscopy (fNIRS) study of responses to speech and nonspeech sounds in the auditory cortex in a sample of 2- to 10-year-old children with FXS and typically developing controls (FXS n = 23, TDC n = 15, mean age = 6.44 and 7.07 years, respectively). Specifically, we measured changes in oxygenated and deoxygenated hemoglobin in the auditory cortex during blocks of speech and nonspeech matched noise in children with FXS and sex-and-age-matched controls. Similar to controls, children with FXS showed hemodynamic change consistent with neural activation of the primary auditory regions for speech as well as leftward lateralization for speech sound processing, strength of which was associated with higher verbal abilities in FXS. However, while controls showed neural differentiation of speech and nonspeech in the left auditory cortex, children with FXS did not demonstrate differentiation of the two conditions in this study. In addition, the children with FXS showed a greater neural activation to the nonspeech condition overall. Overall, these results suggest that basic patterns of neural activation for speech are present in FXS in childhood, but neural response to nonspeech sounds may differ in FXS when compared to controls.

Background: Down syndrome (DS) is the most common congenital neurodevelopmental disorder, present in about 1 in every 700 live births. Despite its prevalence, literature exploring the neurobiology underlying DS and how this neurobiology is related to behavior is limited. This study fills this gap by examining cortical volumes and behavioral correlates in school-age children with DS.

Methods: School-age children (mean = 9.7 years ± 1.1) underwent comprehensive assessments, including cognitive and adaptive assessments, as well as an MRI scan without the use of sedation. Children with DS (n = 35) were compared to available samples of typically developing (TD; n = 80) and ASD children (n = 29). ANOVAs were conducted to compare groups on cognitive and adaptive assessments. ANCOVAs (covarying for age, sex, and total cerebral volume; TCV) compared cortical brain volumes between groups. Correlations between behavioral metrics and cortical and cerebellar volumes (separately for gray (GM) and white matter (WM)) were conducted separately by group.

Results: As expected, children with DS had significantly lower cognitive skills compared to ASD and TD children. Daily Living adaptive skills were comparable between ASD children and children with DS, and both groups scored lower than TD children. Children with DS exhibited a smaller TCV compared to ASD and TD children. Additionally, when controlling for TCV, age, and sex, children with DS had significantly smaller total GM and tissue volumes. Cerebellum volumes were significantly correlated with Daily Living adaptive behaviors in the DS group only.

Conclusions: Despite children with DS exhibiting lower cognitive skills and smaller brain volume overall than children with ASD, their deficits in Socialization and Daily Living adaptive skills are comparable. Differences in lobar volumes (e.g., Right Frontal GM/WM, Left Frontal WM, and Left and Right Temporal WM) were observed above and beyond overall differences in total volume. The correlation between cerebellum volumes and Daily Living adaptive behaviors in the DS group provides a novel area to explore in future research.

Background: Difficulties with speech-in-noise perception in autism spectrum disorders (ASD) may be associated with impaired analysis of speech sounds, such as vowels, which represent the fundamental phoneme constituents of human speech. Vowels elicit early (< 100 ms) sustained processing negativity (SPN) in the auditory cortex that reflects the detection of an acoustic pattern based on the presence of formant structure and/or periodic envelope information (f0) and its transformation into an auditory "object".

Methods: We used magnetoencephalography (MEG) and individual brain models to investigate whether SPN is altered in children with ASD and whether this deficit is associated with impairment in their ability to perceive speech in the background of noise. MEG was recorded while boys with ASD and typically developing boys passively listened to sounds that differed in the presence/absence of f0 periodicity and formant structure. Word-in-noise perception was assessed in the separate psychoacoustic experiment using stationary and amplitude modulated noise with varying signal-to-noise ratio.

Results: SPN was present in both groups with similarly early onset. In children with ASD, SPN associated with processing formant structure was reduced predominantly in the cortical areas lateral to and medial to the primary auditory cortex, starting at ~ 150-200 ms after the stimulus onset. In the left hemisphere, this deficit correlated with impaired ability of children with ASD to recognize words in amplitude-modulated noise, but not in stationary noise.

Conclusions: These results suggest that perceptual grouping of vowel formants into phonemes is impaired in children with ASD and that, in the left hemisphere, this deficit contributes to their difficulties with speech perception in fluctuating background noise.

This report presents results of parent-implemented behavioral treatments for a child with cortical visual impairment (CVI), intellectual disability (ID), epilepsy, and autism spectrum disorder (ASD) associated with a pathogenic variant in the SCN2A gene (i.e., SCN2A-Related Disorder). Treatment evaluations were informed by combined results of functional behavior assessment (FBA) and functional vision assessment (FVA) which yielded CVI-related accommodations. The treatment of escape-maintained challenging behavior involved the evaluation of behavioral prompting strategies in accordance with CVI-related accommodations, extinction (EXT), and differential reinforcement modifications. The treatment for behavior problems maintained by access to food (tangible-edible) included functional communication training (FCT), EXT, and schedule thinning with schedule-correlated visual signals. Overall, integrating child-specific CVI-related accommodations was essential for developing effective behavioral interventions for this child. FVAs are accessible and practical for uptake by behavior analysts in vision-informed assessment and treatment of challenging behavior.

Background: Mutations in the X-linked CDKL5 gene underlie a severe epileptic encephalopathy, CDKL5 deficiency disorder (CDD), characterized by gross motor impairment, autistic features and intellectual disability. Absence of Cdkl5 negatively impacts neuronal proliferation, survival, and maturation in in vitro and in vivo models, resulting in behavioral deficits in the Cdkl5 KO mouse. While there is no targeted therapy for CDD, several studies showed that treatments enabling an increase in brain BDNF levels give rise to structural and behavioral improvements in Cdkl5 KO mice. P021, a tetra-peptide derived from the biologically active region of the human ciliary neurotrophic factor (CNTF), was found to enhance neurogenesis and synaptic plasticity by promoting an increase in BDNF expression in preclinical models of brain disorders, such as Alzheimer's disease and Down syndrome, resulting in a beneficial therapeutic effect. Considering the positive actions of P021 on brain development and cognition associated with increased BDNF expression, the present study aimed to evaluate the possible beneficial effect of treatment with P021 in an in vitro and in vivo model of CDD.

Methods: We used SH-CDKL5-KO cells as an in vitro model of CDD to test the efficacy of P021 on neuronal proliferation, survival, and maturation. In addition, both young and adult Cdkl5 KO mice were used to evaluate the in vivo effects of P021, on neuroanatomical and behavioral defects.

Results: We found that P021 treatment was effective in restoring neuronal proliferation, survival, and maturation deficits, as well as alterations in the GSK3β signaling pathway, features that characterize a human neuronal model of CDKL5 deficiency. Unexpectedly, chronic in vivo P021 treatment failed to increase BDNF levels and did not improve neuroanatomical defects in Cdkl5 KO mice, resulting in limited behavioral benefit.

Conclusions: At present, it remains to be understood whether initiating the treatment prenatally, or prolonging the duration of treatment will be necessary in order to achieve similar results in vivo in CDD mice to those obtained in vitro.

Background: Phelan-McDermid syndrome (PMS) is a rare genetic syndrome characterized by developmental delay/intellectual disability, absent or delayed speech, physical dysmorphic features and high rates of autistic features. However, it is currently unknown whether people with PMS have similar neurocognitive atypicalities to those previously identified in idiopathic autism. Disruption in social orienting has previously been suggested as an early hallmark feature of idiopathic autism that impacts social learning and social interaction.

Methods: This study used a semi-naturalistic task to explore orienting to social versus non-social stimuli and its relation to clinical features in individuals diagnosed with PMS, autism, and neurotypical children recruited in the United States and the United Kingdom.

Results: At the group level, autistic and neurotypical children responded on average more often to social than non-social stimuli, while children with PMS responded similarly to both stimulus types. Both clinical groups responded significantly less often to social stimuli than neurotypical children. In addition, we found considerable variability in orienting responses within each group that were of clinical relevance. In the autism group, non-social orienting was associated with mental age, while in the PMS group social and non-social orienting were related to strength of autistic features.

Conclusions: These findings do not support specific social motivation difficulties in either clinical group. Instead, they highlight the importance of exploring individual differences in orienting responses in Phelan-McDermid Syndrome in relation to autistic features.

Trial registration: NA.

Machine learning (ML) is increasingly used to identify patterns that could predict neurodevelopmental disorders (NDDs), such as autism spectrum disorder (ASD) and attention-deficit hyperactivity disorder (ADHD). One key source of multilevel data for ML prediction models includes population-based registers and electronic health records. These can contain rich information on individual and familial medical histories and socio-demographics. This review summarizes studies published between 2010-2022 that used ML algorithms to develop predictive models for NDDs using population-based registers and electronic health records. A literature search identified 1191 articles, of which 32 were retained. Of these, 47% developed ASD prediction models and 25% ADHD models. Classical ML methods were used in 82% of studies and in particular tree-based prediction models performed well. The sensitivity of the models was lower than 75% for most studies, while the area under the curve (AUC) was greater than 75%. The most important predictors were patient and familial medical history and sociodemographic factors. Using private in-house datasets makes comparing and validating model generalizability across studies difficult. The ML model development and reporting guidelines were adopted only in a few recently reported studies. More work is needed to harness the power of data for detecting NDDs early.

Background: A multi-method, multi-informant approach is crucial for evaluating attention-deficit/hyperactivity disorders (ADHD) in preschool children due to the diagnostic complexities and challenges at this developmental stage. However, most artificial intelligence (AI) studies on the automated detection of ADHD have relied on using a single datatype. This study aims to develop a reliable multimodal AI-detection system to facilitate the diagnosis of ADHD in young children.

Methods: 78 young children were recruited, including 43 diagnosed with ADHD (mean age: 68.07 ± 6.19 months) and 35 with typical development (mean age: 67.40 ± 5.44 months). Machine learning and deep learning methods were adopted to develop three individual predictive models using electroencephalography (EEG) data recorded with a wearable wireless device, scores from the computerized attention assessment via Conners' Kiddie Continuous Performance Test Second Edition (K-CPT-2), and ratings from ADHD-related symptom scales. Finally, these models were combined to form a single ensemble model.

Results: The ensemble model achieved an accuracy of 0.974. While individual modality provided the optimal classification with an accuracy rate of 0.909, 0.922, and 0.950 using the ADHD-related symptom rating scale, the K-CPT-2 score, and the EEG measure, respectively. Moreover, the findings suggest that teacher ratings, K-CPT-2 reaction time, and occipital high-frequency EEG band power values are significant features in identifying young children with ADHD.

Conclusions: This study addresses three common issues in ADHD-related AI research: the utility of wearable technologies, integrating databases from diverse ADHD diagnostic instruments, and appropriately interpreting the models. This established multimodal system is potentially reliable and practical for distinguishing ADHD from TD, thus further facilitating the clinical diagnosis of ADHD in preschool young children.

Objective: To analyze the complex relationship between socioeconomic status (SES) and neurodevelopmental achievements by investigating the temporal dynamics of these associations from birth to age 6.

Methods: This retrospective cohort study was conducted over 6 years using population-based data from the National Health Insurance Service and integrated data from the National Health Screening Program for Infants and Children. Participants were children born between 2009 and 2011 in Korea without neurodevelopmental delays with potential developmental implications. We analyzed results from the Korean Developmental Screening Test, administered at age 6, which covered overall assessment and six domains of gross and fine motor function, cognition, language, sociality, and self-care. The secondary outcome was to determine when neurodevelopmental outcomes began after birth and how these differences changed over time.

Results: Of 276,167 individuals (49.2% males), 66,325, 138,980, and 60,862 had low, intermediate, and high SES, respectively. Neurodevelopmental delays observed across all developmental domains were more prevalent in the low-SES group than in the high-SES group. Disparities in neurodevelopment according to these statuses were apparent as early as age 2 and tended to increase over time (interaction, P < 0.001). The cognition and language domains exhibited the most substantial disparities between SES levels. These disparities persisted in subgroup analyses of sex, birthweight, head circumference, birth data, and breastfeeding variables.

Conclusions: Low SES was significantly associated with an increased risk of adverse neurodevelopmental outcomes in preschool children, particularly those affecting cognitive and language domains. These differences manifested in early childhood and widened over time.