Hypocomplementemia, defined as a complement C3 or C4 level below the normal lower limit, is strongly associated with an unfavorable prognosis in patients with autoimmune diseases. This study aimed to explore the clinical features and outcomes of patients with neonatal systemic lupus erythematosus (NLE) with hypocomplementemia.

This retrospective clinical study was conducted across four tertiary hospitals in Eastern China on January 1, 2011, and December 31, 2023. This study included 91 patients with NLE. Patients were classified into hypocomplementemic and non-hypocomplementemic groups according to their serum C3 and/or C4 levels. Risk factors for the development of hypocomplementemia were explored using univariate/multifactorial analyses, organ involvement, and follow-up outcomes were compared between groups.

The number of NLE patients with hypocomplementemia was 36 (39.56%). Hypocomplementemia group had a significantly lower proportion of fish oil supplementation during pregnancy, a higher proportion of cesarean deliveries, mothers with systemic lupus erythematosus, double antibody positivity for anti-SSA and anti-SSB, and higher serum IgG levels. Multivariate analyses showed that maternal allergic diseases, double antibody positivity, and serum IgG levels were risk factors for hypocomplementemia. Baseline IgG levels negatively correlated with complement C3 and C4 levels. NLE Patients with hypocomplementemia are more likely to have thrombocytopenia, hypoproteinemia, or gastrointestinal involvement than those without hypocomplementemia. Systemic application of glucocorticoids was significantly more prevalent in the hypocomplementemia group. Long-term follow-up revealed that allergy-associated disorders were common in patients with NLE and hypocomplementemia, followed by developmental delay, severe infections, attention- deficit hyperactivity disorder, and anxiety/depression, respectively. Log-rank analysis revealed that these patients had significantly higher frequencies of allergic diseases and developmental delays later in life.

Maternal allergic diseases, double antibody positivity, and serum IgG levels were associated with the development of hypocomplementemia in children with NLE. Patients with hypocomplementemia-associated NLE typically exhibit a more severe disease course.

Machine learning (ML) based on remote video has shown ideal diagnostic value in autism spectrum disorder (ASD). Here, we conducted a meta-analysis of the diagnostic value of home video-based ML in ASD. Relevant articles were systematically searched in PubMed, Cochrane, Embase, and Web of Science from inception to September 2023 with no language restriction, and the literature search was updated in September 2024. The overall risk of bias and suitability of the ML prediction models in the included studies were assessed using PROBAST. Nineteen articles involving 89 prediction models and 9959 subjects were included. The mean video duration was 5.63 ± 1.23 min, and the mean number of behavioral features during initial modeling was 23.53. Among the 19 included studies, 13 models had been trained. Seven of the 13 models were not cross-validated (c-index = 0.92, 95% CI 0.88-0.96), while 6 of the 13 models were tenfold cross-validated (c-index = 0.95, 95% CI 0.94-0.97). There were 8 validation cohorts (c-index = 0.83, 95% CI 0.77-0.89). The pooled sensitivity and specificity were 0.87 (95% CI 0.77-0.93) and 0.79 (95% CI 0.76-0.81) in the training cohort, 0.90 (95% CI 0.85-0.94) and 0.87 (95% CI 0.72-0.94) in the cross-validation, and 0.81 (95% CI 0.74-0.86) and 0.72 (95% CI 0.68-0.75) in the validation cohort, respectively. These results indicated that this model is a highly sensitive and user-friendly tool for early ASD diagnosis.

Remote video-based ML may improve clinical practice and future research, particularly by combining advanced technologies such as facial recognition. It is a potential tool for diagnosing ASD in children.

• The incidence of pediatric ASD has increased in recent years. • ML based on remote video has shown ideal early diagnostic value.

• The first systematic review and meta-analysis evaluating the diagnostic performance of remote video-based ML for ASD. • Home video-based ML is a valuable diagnostic tool for the early diagnosis of ASD. • Remote video-based ML is convenient and simple to utilize.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impaired social interactions, communication deficits and repetitive behaviors. A study of autistic human subjects has identified RFWD2 as a susceptibility gene for autism, and autistic patients have 3 copies of the RFWD2 gene. The role of RFWD2 as an E3 ligase in neuronal functions, and its contribution to the pathophysiology of ASD, remain unknown. We generated RFWD2 knockin mice to model the human autistic condition of high gene dosage of RFWD2. We found that heterozygous knockin (Rfwd2+/-) male mice exhibited the core symptoms of autism. Rfwd2+/- male mice showed deficits in social interaction and communication, increased repetitive and anxiety-like behavior, and spatial memory deficits, whereas Rfwd2+/- female mice showed subtle deficits in social communication and spatial memory but were normal in anxiety-like, repetitive, and social behaviors. These autistic-like behaviors in males were accompanied by a reduction in dendritic spine density and abnormal synaptic function on layer II/III pyramidal neurons in the prelimbic area of the medial prefrontal cortex (mPFC), as well as decreased expression of synaptic proteins. Impaired social behaviors in Rfwd2+/- male mice were rescued by the expression of ETV5, one of the major substrates of RFWD2, in the mPFC. These findings indicate an important role of RFWD2 in the pathogenesis of autism.

Depression is a widespread mental health condition that requires effective treatment. In the treatment of depression, traditional Chinese medicine (TCM) offers obvious advantages, fewer adverse reactions, and a lower recurrence rate.

To evaluate the clinical benefits of Guipi decoction combined with escitalopram oxalate tablets for individuals with depression.

In total, 80 patients diagnosed as having depression were enrolled in the study and divided into either an experimental group or a control group. All of the patients were orally administered escitalopram oxalate tablets. Additionally, the experimental group received Jiajian Guipi decoction and reduced Governor vessel fumigation over 4 wk. TCM syndrome scores, Hamilton depression rating scale (HAM-D) scores, self-rating depression scale (SDS) scores, and Pittsburgh sleep quality index scores were measured for the two groups and compared before and after the treatment. The two groups were monitored for any adverse reactions.

After 4 wk of treatment, both groups exhibited a significant reduction in TCM syndrome scores compared with their pre-treatment scores (P < 0.05). However, the experimental group exhibited significantly lower TCM syndrome scores than the control group (P < 0.05). Similarly, the post-treatment SDS and HAM-D-24 scores were significantly lower in both groups than the pre-treatment scores (P < 0.05), with the experimental group exhibiting lower scores than the control group (P < 0.05). The total treatment efficiency was significantly better in the experimental group (97.14%) than in the control group (77.78%) (P < 0.05). Furthermore, after 4 wk of treatment, the Pittsburgh sleep quality index scores for both groups were significantly lower than those before the treatment (P < 0.05), with the experimental group exhibiting lower scores than the control group (P < 0.05). The incidence of adverse reactions was significantly lower in the experimental group than in the control group (P < 0.05).

The combination of Guipi decoction and escitalopram oxalate tablets was found to be an effective and safe treatment for depression. This combination could reduce TCM syndrome scores, improve depressive symptoms, and enhance sleep quality.

Family environment is the primary environment for adolescent growth and development, which is believed to have an important impact on the occurrence of non-suicidal self-injury (NSSI) behavior in adolescents. This study aimed to explore the effects of family environment cognition and cognitive differences perceived by adolescents and their parents on the treatment effects of NSSI in adolescents and to provide more potential perspectives for NSSI treatment.

A one-year prospective longitudinal sub-cohort investigation was carried out among 199 adolescents engaged in NSSI and one of their important guardians from the Longitudinal Psychosomatic Disease Study (LoPDS). The NSSI behaviors of adolescents were evaluated at 3 months, 6 months and 1 year after enrollment. The family environment scale (FES) and NSSI Behavior Questionnaire were used as assessment tools for family environment and adolescents NSSI behaviors. Multiple linear regression was used to investigate the role of family environment perception difference in the treatment effect of adolescent NSSI.

After one year of follow-up, the perceived self-injury impulse score in recent 2 weeks, self-injury impulse frequency in recent 2 weeks, total number of self-injury in recent 2 weeks decreased significantly. The higher the adolescent family cohesion (Beta: 1.130, 95% CI: 0.886,1.373; p=0.032), parental family expressiveness (Beta: 0.818, 95% CI: 0.375,1.260; p=0.037) and parental family active-recreational orientation score (Beta: 0.609, 95% CI: 0.236,0.981; p=0.048), the better the treatment effect. However, higher adolescent family conflict (Beta: -0.838, 95% CI: -1.377,-0.298; p=0.024) were associated with lower treatment outcomes. The greater the cognitive difference between parents and adolescents in family cohesion (Beta: -1.307, 95% CI: -2.074,-0.539; p=0.014) and family conflict(Beta: -0.665, 95% CI: -0.919,-0.410; p=0.037), the worse the therapeutic effect of NSSI might be.

There were certain differences in the cognition of family relationships between parents and adolescents, and subjective family relationship cognition and cognitive differences had a significant effect on the treatment effect of NSSI in adolescents. Helping them identify the cause of cognitive differences and conducting systematic family therapy from the points of difference may be another perspective to improve the treatment effect of NSSI in adolescents.

The early diagnosis of autism in children is particularly important. However, there is no obvious objective indices for the diagnosis of autism spectrum disorder (ASD), especially in toddlers aged 1-3 years with language development delay (LDD). The early differential diagnosis of ASD is challenging.

To examine differences in the dynamic characteristics of regional neural activity in toddlers with ASD and LDD, and whether the differences can be used as an imaging biomarker for the early differential diagnosis of ASD and LDD.

Dynamic regional homogeneity (dReHo) and dynamic amplitude of low-frequency fluctuations (dALFF) in 55 children with ASD and 31 with LDD, aged 1-3 years, were compared. The correlations between ASD symptoms and the values of dReHo/dALFF within regions showing significant between-group differences were analyzed in ASD group. We further assessed the accuracy of dynamic regional neural activity alterations to distinguish ASD from LDD using receiver operating characteristic (ROC) analysis.

Compared with the LDD group, the ASD group showed increased dReHo in the left cerebellum_8/Crust2 and right cerebellum_Crust2, and decreased dReHo in the right middle frontal gyrus (MFG) and post-central gyrus. Patients with ASD also exhibited decreased dALFF in the right middle temporal gyrus (MFG) and right precuneus. Moreover, the Childhood Autism Rating Scale score was negatively correlated with the dReHo of the left cerebellum_8/crust2 and right cerebellum_crust2. The dReHo value of the right MFG was negatively correlated with social self-help of the Autism Behavior Checklist score.

The pattern of resting-state regional neural activity variability was different between toddlers with ASD and those with LDD. Dynamic regional indices might be novel neuroimaging biomarkers that allow differentiation of ASD from LDD in toddlers.

Postpartum depression (PPD) presents a serious health problem among women and their families. Machine learning (ML) is a rapidly advancing field with increasing utility in predicting PPD risk. We aimed to synthesize and evaluate the quality of studies on application of ML techniques in predicting PPD risk.

We conducted a systematic search of eight databases, identifying English and Chinese studies on ML techniques for predicting PPD risk and ML techniques with performance metrics. Quality of the studies involved was evaluated using the Prediction Model Risk of Bias Assessment Tool.

Seventeen studies involving 62 prediction models were included. Supervised learning was the main ML technique employed and the common ML models were support vector machine, random forest and logistic regression. Five studies (30 %) reported both internal and external validation. Two studies involved model translation, but none were tested clinically. All studies showed a high risk of bias, and more than half showed high application risk.

Including Chinese articles slightly reduced the reproducibility of the review. Model performance was not quantitatively analyzed owing to inconsistent metrics and the absence of methods for correlation meta-analysis.

Researchers have paid more attention to model development than to validation, and few have focused on improvement and innovation. Models for predicting PPD risk continue to emerge. However, few have achieved the acceptable quality standards. Therefore, ML techniques for successfully predicting PPD risk are yet to be deployed in clinical environments.

Background: Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder that often involves impaired cognition, communication difficulties and restrictive, repetitive behaviors. ASD is extremely heterogeneous both clinically and etiologically, which represents one of the greatest challenges in studying the molecular underpinnings of ASD. While hundreds of ASD-associated genes have been identified that confer varying degrees of risk, no single gene variant accounts for >1% of ASD cases. Notably, a large number of ASD-risk genes function as epigenetic regulators, indicating potential epigenetic dysregulation in ASD. As such, we compared genome-wide DNA methylation (DNAm) in the blood of children with ASD (n = 265) to samples from age- and sex-matched, neurotypical controls (n = 122) using the Illumina Infinium HumanMethylation450 arrays. Results: While DNAm patterns did not distinctly separate ASD cases from controls, our analysis identified an epigenetically unique subset of ASD cases (n = 32); these individuals exhibited significant differential methylation from both controls than the remaining ASD cases. The CpG sites at which this subset was differentially methylated mapped to known ASD risk genes that encode proteins of the nervous and immune systems. Moreover, the observed DNAm differences were attributable to altered blood cell composition, i.e., lower granulocyte proportion and granulocyte-to-lymphocyte ratio in the ASD subset, as compared to the remaining ASD cases and controls. This ASD subset did not differ from the rest of the ASD cases in the frequency or type of high-risk genomic variants. Conclusion: Within our ASD cohort, we identified a subset of individuals that exhibit differential methylation from both controls and the remaining ASD group tightly associated with shifts in immune cell type proportions. This is an important feature that should be assessed in all epigenetic studies of blood cells in ASD. This finding also builds on past reports of changes in the immune systems of children with ASD, supporting the potential role of altered immunological mechanisms in the complex pathophysiology of ASD. The discovery of significant molecular and immunological features in subgroups of individuals with ASD may allow clinicians to better stratify patients, facilitating personalized interventions and improved outcomes.

Eye pathology could be related to atypical visual behaviours and impaired social communication through visual cues in children with autism spectrum disorder (ASD). The main purpose of this prospective study was to assess ophthalmological disorders in children with ASD and to investigate the relationships with intellectual disability (ID) and ASD severity.

In this prospective study, comprehensive ophthalmological and oculomotor examinations were performed. ASD severity and verbal and performance intelligence quotients were determined using adapted scales. These clinical data were compared between groups of children based on the presence or absence of ophthalmological disorders and the achievement or not of visual acuity (VA) testing by using non-parametric statistical tests.

Amongst a sample of 51 children, ophthalmological disorders were found in 39% of cases, with 35% having significant refractive errors and 10% presenting with strabismus. Children with ASD and ophthalmological disorders had significantly lower verbal (29.8 ± 14.7 compared with 44.3 ± 21.5; p = 0.010) and performance quotients (57.8 ± 18.3 compared with 67.59 ± 20; p = 0.049) but no significant result was found between the presence of ophthalmological disorders and ASD severity, level of communication and social contact, or modulating behaviour when changes occur. Children who did not achieve monocular VA testing (39%) had significantly lower verbal (25.1 ± 9.7 compared with 46.1 ± 20.9; p < 0.001) and performance quotients (52.7 ± 17 compared with 69.8 ± 18.8; p = 0.001), also presented higher social interaction impairment (p = 0.002), and expressed more important behavioural signs (p = 0.007).

Ophthalmological disorders are frequently found in children with ASD, especially in those with ID. Ophthalmologists and child psychiatrists should pay attention to perform ophthalmological examination in children with ASD since eye disorders might remain undetected. A comprehensive examination by a paediatric ophthalmologist would help to improve the individual clinical description and the global intervention.

Clinical trial registration number: NCT02444117.

A group of 21 autistic children were studied for determining the relationship between the anatomic (AC) versus functional (FC) connectivity, considering short-range and long-range brain networks. AC was assessed by the DW-MRI technique and FC by EEG coherence calculation, in three experimental conditions: basal, watching a popular cartoon with audio (V-A), and with muted audio track (VwA). For short-range connections, basal records, statistical significant correlations were found for all EEG bands in the left hemisphere, but no significant correlations were found for fast EEG frequencies in the right hemisphere. For the V-A condition, significant correlations were mainly diminished for the left hemisphere; for the right hemisphere, no significant correlations were found for the fast EEG frequency bands. For the VwA condition, significant correlations for the rapid EEG frequencies mainly disappeared for the right hemisphere. For long-range connections, basal records showed similar correlations for both hemispheres. For the right hemisphere, significant correlations incremented to all EEG bands for the V-A condition, but these significant correlations disappeared for the fast EEG frequencies in the VwA condition. It appears that in a resting-state condition, AC is better associated with functional connectivity for short-range connections in the left hemisphere. The V-A experimental condition enriches the AC and FC association for long-range connections in the right hemisphere. This might be related to an effective connectivity improvement due to full video stimulation (visual and auditory). An impaired audiovisual interaction in the right hemisphere might explain why significant correlations disappeared for the fast EEG frequencies in the VwA experimental condition.