Variants in NAA15 are closely related to neurodevelopmental disorders (NDDs). In this study, we investigated the spectrum and clinical features of NAA15 variants in a Chinese NDD cohort of 769 children. Four novel NAA15 pathogenic variants were detected by whole-exome sequencing, including three de novo variants and one maternal variant. The in vitro minigene splicing assay confirmed one noncanonical splicing variant (c.1410+5G>C), which resulted in abnormal mRNA splicing. All affected children presented mild developmental delay, and catch-up trajectories were noted in three patients based on their developmental scores at different ages. Meanwhile, the literature review also showed that half of the reported patients with NAA15 variants presented mild/moderate developmental delay or intellectual disability, and possible catch-up sign was indicated for three affected patients. Taken together, our study expanded the spectrum of NAA15 variants in NDD patients. The affected patients presented mild developmental delay, and possible catch-up developmental trajectories were suggested. Studying the natural neurodevelopmental trajectories of NDD patients with pathogenic variants and their benefits from physical rehabilitations are needed in the future for precise genetic counseling and clinical management.

Background: Children with special healthcare needs (CSHCNs) face persistent barriers to timely immunization in China, but comparative evidence across disease groups and vaccines, and data on immune function, are limited. Methods: We conducted a retrospective cohort study linking electronic medical records, vaccination records, and a structured telephone and questionnaire follow-up. We estimated timely vaccination by National Immunization Program (NIP) dose definitions, assessed catch-up completion at follow-up, and compared cellular/humoral/complement immune indices with published pediatric reference ranges. Group differences used ANOVA/Kruskal–Wallis and chi-square (χ²)/Fisher’s exact tests with Bonferroni correction. Results: Timely vaccination was lower than the national healthy child benchmarks for all NIP vaccines (all p < 0.001); the Japanese encephalitis virus (JE; 24.0%) and measles-containing vaccine (MCV; 25.9%) had the lowest timely completion. A subset of CSHCNs did not receive recommended catch-up vaccinations, primarily due to persistent caregivers’ concern and point of vaccination (POV) staff’s hesitancy. Delays clustered in neonatal/perinatal disorders for Bacillus Calmette–Guérin (BCG) and hepatitis B vaccine, dose 1 (HepB1). Catch-up completion was highest for hepatitis B vaccine, dose 3 (HepB3) (86.3%) and BCG (81.8%), and lowest for the diphtheria and tetanus vaccine (DT) (49.4%); MCV2 completion was particularly low in hematological diseases. Immunoglobulin A (IgA) and immunoglobulin G (IgG) concentrations were significantly lower in neonatal/perinatal disorders and infectious disease groups versus neurological and immune disorder groups (p < 0.05). No severe adverse events were reported after catch-up. Conclusions: CSHCNs in China face substantial barriers to timely NIP immunization. Timeliness and catch-up vary substantially by vaccine and underlying condition; neonatal/perinatal disorders contribute disproportionately to early-life delays. Disease-specific guidance, strengthened POV–specialist clinic coordination, immunological monitoring, and supportive policies could improve the vaccination coverage and effectiveness in this vulnerable population.

Background: Language disorders and dyslexia are associated with atypical language- and reading-related processing, but findings from functional near-infrared spectroscopy (fNIRS) studies remain heterogeneous. This systematic review and meta-analysis synthesized existing fNIRS evidence, quantified hemodynamic differences relative to controls, and examined whether different outcomes showed different levels of consistency. Methods: PubMed, Embase, and Web of Science were searched through 9 January 2026. Eligible studies included individuals with language disorders or dyslexia assessed using fNIRS, with outcomes reported as oxygenated hemoglobin (HbO), deoxygenated hemoglobin (HbR), β estimates, or other hemoglobin-based measures. Random-effects meta-analyses were performed when sufficient quantitative data were available, with subgroup and sensitivity analyses conducted where feasible. Results: A total of 830 records were identified, of which 10 publications comprising 11 independent samples met the inclusion criteria. HbO was the only outcome to show a statistically significant overall between-group difference, with lower HbO in the experimental groups than in controls (SMD = −0.61, 95% CI [−1.12, −0.11], p = 0.017), although heterogeneity was substantial (I² = 58.6%). In contrast, pooled results for HbR and β were not statistically significant and showed weaker stability across analyses. Subgroup and sensitivity analyses did not provide sufficient evidence to support disorder category, region of interest (ROI), or outcome metric type as stable explanations for effect size variation. Conclusions: Among the included fNIRS measures, HbO showed comparatively more consistent cross-study evidence than HbR or β. However, because the HbO estimate pooled clinically distinct dyslexia and acquired language-disorder studies within a limited evidence base, it should be interpreted as a preliminary cross-diagnostic signal rather than as evidence of a shared disease continuum or common underlying mechanism.

Background To investigate the value of the SNAP-IV scale combined with IVA-CPT objective attention/executive function indicators in identifying the risk of cognitive ability in children with ADHD, and to evaluate its incremental predictive ability over traditional subjective scales, providing a basis for clinical screening and stratified interventions. Methods A total of 248 children with ADHD (191 boys, 57 girls), with a mean age of 8.98 ± 1.68 years, were enrolled from the ADHD outpatient clinic at the Children's Health Center of Capital center for Children's Health, Capital Medical University. All participants completed the SNAP-IV scale, WISC and IVA-CPT Attention Test. Cognitive high-risk was defined by a Wechsler Full Scale IQ < 85. A logistic regression model (Model 1) was constructed including only the SNAP-IV total score, age, sex, parental ADHD status, and whether the child was an only child. Model 2 was constructed by adding IVA-CPT composite scores for attention quotient, response control quotient, and auditory/visual attention and control quotients. The area under the curve (AUC) of the ROC curve and DCA curve was compared between the two models. Results The AUC of Model 1 was 0.612, with a sensitivity of 0.804, and specificity of 0.426, indicating that its predictive ability for cognitive high-risk was close to random. After incorporating IVA indicators, the AUC of Model 2 improved to 0.707, with a sensitivity of 0.587, and specificity of 0.787, which was significantly superior to Model 1 (p = 0.034). DCA analysis further demonstrated that Model 2 offered more favorable guidance for decision-making at moderate-risk thresholds.Additionally, no significant correlation was found between the SNAP-IV score and any IVA dimension score, indicating that subjective symptom scales and objective attention function indicators assess different aspects of cognitive performance. Conclusion The SNAP-IV scale alone is insufficient for effectively identifying the cognitive high-risk individuals among children with ADHD. However, the addition of IVA-CPT attention and response control indicators significantly improves predictive performance. This study supports the use of a combined screening strategy of "subjective behavioral scales + objective cognitive tests" in ADHD assessments, which can help identify cognitive high-risk children early and facilitate early intervention. Trial registration Not applicable.

Introduction: Family functioning is a critical factor linked to child outcomes in neurodevelopmental disorders but remains unstudied in Mowat–Wilson syndrome (MWS), a rare condition with substantial caregiver burden. This study characterized family functioning in MWS and identified factors associated with family functioning. Materials and Methods: We employed a cross-sectional survey in a cohort of 42 patients with MWS. Family functioning was assessed using the Family Assessment Device (FAD). Clinical and behavioral characteristics included intellectual disability, adaptive functioning, autism spectrum disorder (ASD)-related behaviors, and CBCL-derived domains of social, emotional, and sleep-related concerns. Results: Among 42 children (mean age 4.9 years), severe/profound intellectual disability and adaptive deficits were common. Difficulties in family functioning were frequently reported. The highest proportions of scores above the published cut-off were observed in behavior control (90.5%) and affective involvement (76.2%). Higher monthly household income was independently associated with better general family functioning (β = −0.443, p = 0.008), whereas child age, intellectual disability severity, and adaptive impairment were not significantly associated with general functioning scores. Poorer general functioning was associated with higher scores on the CBCL-derived depressive symptom domain. Conclusions: Caregivers of children with MWS commonly reported difficulties in family functioning; behavior control was most affected, followed by affective involvement. Higher household income was independently associated with better general family functioning, suggesting that household income is an important socioeconomic correlate of family functioning.

Background/Objectives: Individual responses to recombinant human growth hormone (rhGH) therapy in children with idiopathic short stature (ISS) vary substantially, limiting pretreatment decision-making. This study aimed to develop and externally validate an interpretable machine learning model for predicting suboptimal 12-month growth response to rhGH therapy. Methods: In this retrospective dual-center study, 901 children from Center 1 were used for model development and internal testing, and 51 children from Center 2 formed an independent external validation cohort. Routinely collected baseline demographic, laboratory, hormonal, radiographic, and family-history variables were used to develop multiple machine learning models. A soft-voting ensemble classifier was constructed and interpreted using SHapley Additive exPlanations (SHAP). The primary outcome was suboptimal growth response, defined as failure to achieve a height gain of at least 0.5 standard deviation score after 12 months of treatment. Results: The optimized ensemble model showed strong discrimination in the internal test set, with an area under the receiver operating characteristic curve of 0.927, and maintained robust performance in the external validation cohort, with an AUC of 0.897. SHAP analysis identified luteinizing hormone, body mass index, TW3 RUS bone age, and insulin-like growth factor 1 as the leading contributors to predicted suboptimal-response risk. Conclusions: An interpretable ensemble machine learning model based on routinely available pretreatment data can predict suboptimal short-term rhGH response in children with ISS and may support individualized risk stratification in pediatric endocrine practice. Clinical trial registration was not required because this was a retrospective analysis.