1. Demerdzieva A, Pop-Jordanova N. An Overview of Pediatric Approaches to Child with Developmental Delay Especially if There is Suspicion of ASD in First Few Years of Life. Prilozi (Makedonska akademija na naukite i umetnostite Oddelenie za medicinski nauki). 2022; 43(3): 43-53.

To be a pediatrician means that one encounters many serious childhood health problems and one finds many ways to help families cope with these problems. Symptoms in children can be discrete, and the responsibility of the pediatrician to distinguish normal development from pathological. We are facing a new era in the developmental assessment of children. A cluster of neurodevelopmental disorders includes ASD (autism spectrum disorder) and ADHD (attention deficit hyperactivity disorder). Parents often do not recognize the problem on time. Generally, their first concern is speech delay, leading to the suspicion of hearing problems. Therefore, it is very important to obtain objective anamnestic information and for the child to undergo a careful physical examination, a neurophysiological assessment, and metabolic and genetic testing. The etiology usually is multifactorial: genetic, epigenetic, and non-genetic factors act in combination through various paths. Most children seem to have typical neurodevelopment during first their year. It was found that approximately one-third of children with ASD lose some skills during the preschool period, usually speech related, but sometimes also non-verbal communication, social or play skills. In conclusion we must say that it is very important to recognize the early signs of ASD and any kind of other developmental delay and to start with early intervention. Clinical pediatricians tend to correlate clinical manifestations and biological underpinnings related to neurodevelopmental disorder, especially ASD. Therefore, better treatment possibilities are needed.

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2. Guner UU, İrem B. The Relationship Between Nutrition-Physical Activity Behaviors of Autistic Children with Their Families and Children’s Obesity Levels During Covid Pandemic. Journal of autism and developmental disorders. 2022: 1-9.

The family has a key role in the obesity management of children with autism. This study examines the relationship between the nutrition-physical activity behaviors of autistic children with their families and children’s obesity levels during covid-19 pandemic. The descriptive and cross-sectional study involved 80 parents of autistic children. A positive correlation was found between children’s mean BMI values before and during the pandemic(p = 0.000). Family Nutrition and Physical Activity Scale(FNPAS) and Brief Autism Mealtime Behavior Inventory(BAMBI) score were 55.18 ± 7.86 and 31.76 ± 8.79, respectively. In addition, it was found that 32.5% of the children ate more than before the pandemic, 50.0% engaged in less physical activity, and 16.3% didn’t do any physical activity. The study results suggesting the risk of obesity.

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3. Kang L, Liu J, Liu Y, Liang W, Yang F, Liu M. Global, regional, and national disease burden of autism spectrum disorder among children under 5 years from 1990 to 2019: An analysis for the Global Burden of Disease 2019 Study. Asian journal of psychiatry. 2022; 79: 103359.

AIM: To estimate the trend in burden of autism spectrum disorder (ASD) at global, regional, and national levels from 1990 to 2019. METHODS: Annual incident cases, incidence rates, prevalent cases, prevalence rates, disability-adjusted life years (DALYs), and DALY rates of ASD among children under 5 years from 1990 to 2019 were collected from the Global Burden of Diseases Study 2019. The percentage of relative changes in cases and the estimated annual percentage changes (EAPCs) of rates were calculated to reflect the temporal trends of ASD burden. Pearson correlation analysis was used to explore the influential factors for EAPC. RESULTS: Globally, the incidence rate, prevalence rate, and DALY rate of ASD among children under 5 years were 91.09 per 100,000, 439.39 per 100,000, and 68.67 per 100,000 in 2019, respectively. From 1990-2019, the incidence rate decreased (EAPC = -0.09, 95% confidence interval [CI] -0.12 to -0.06), whereas the prevalence rate (EAPC=0.08, 95%CI 0.06-0.09) and DALY rate (EAPC=0.08, 95%CI 0.07-0.10) increased. The largest increases in prevalent cases (80.26%) and DALYs (81.24%) were found in low SDI regions, while High-income North America experienced the fastest increase in incidence rate, prevalence rate, and DALY rate. Moreover, the burden of ASD among male children under 5 years was approximately three times that among female children, despite the slight narrowing of gender disparity. The EAPC of incidence rate was positively correlated with SDI and UHCI in 2019 (P < 0.001). CONCLUSION: ASD is a noticeable child neurodevelopmental syndrome. More attention should be given to early screening, diagnosis, and intervention, particularly in resource-limited areas.

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4. Lefebvre A, Tillmann J, Cliquet F, Amsellem F, Maruani A, Leblond C, Beggiato A, Germanaud D, Amestoy A, Ly-Le Moal M, Umbricht D, Chatham C, Murtagh L, Bouvard M, Leboyer M, Charman T, Bourgeron T, Delorme R, Dumas G. Tackling hypo and hyper sensory processing heterogeneity in autism: From clinical stratification to genetic pathways. Autism research : official journal of the International Society for Autism Research. 2022.

As an integral part of autism spectrum symptoms, sensory processing issues including both hypo and hyper sensory sensitivities. These sensory specificities may result from an excitation/inhibition imbalance with a poorly understood of their level of convergence with genetic alterations in GABA-ergic and glutamatergic pathways. In our study, we aimed to characterize the hypo/hyper-sensory profile among autistic individuals. We then explored its link with the burden of deleterious mutations in a subset of individuals with available whole-genome sequencing data. To characterize the hypo/hyper-sensory profile, the differential Short Sensory Profile (dSSP) was defined as a normalized and centralized hypo/hypersensitivity ratio from the Short Sensory Profile (SSP). Including 1136 participants (533 autistic individuals, 210 first-degree relatives, and 267 controls) from two independent study samples (PARIS and LEAP), we observed a statistically significant dSSP mean difference between autistic individuals and controls, driven mostly by a high dSSP variability, with an intermediated profile represented by relatives. Our genetic analysis tended to associate the dSSP and the hyposensitivity with mutations of the GABAergic pathway. The major limitation was the dSSP difficulty to discriminate subjects with a similar quantum of hypo- and hyper-sensory symptoms to those with no such symptoms, resulting both in a similar ratio score of 0. However, the dSSP could be a relevant clinical score, and combined with additional sensory descriptions, genetics and endophenotypic substrates, will improve the exploration of the underlying neurobiological mechanisms of sensory processing differences in autism spectrum.

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5. Li Q, Shi Y, Li X, Yang Y, Zhang X, Xu L, Ma Z, Wang J, Fan L, Wu L. Proteomic-Based Approach Reveals the Involvement of Apolipoprotein A-I in Related Phenotypes of Autism Spectrum Disorder in the BTBR Mouse Model. International journal of molecular sciences. 2022; 23(23).

Autism spectrum disorder (ASD) is a neurodevelopmental disorder. Abnormal lipid metabolism has been suggested to contribute to its pathogenesis. Further exploration of its underlying biochemical mechanisms is needed. In a search for reliable biomarkers for the pathophysiology of ASD, hippocampal tissues from the ASD model BTBR T+ Itpr3tf/J (BTBR) mice and C57BL/6J mice were analyzed, using four-dimensional (4D) label-free proteomic analysis and bioinformatics analysis. Differentially expressed proteins were significantly enriched in lipid metabolic pathways. Among them, apolipoprotein A-I (ApoA-I) is a hub protein and its expression was significantly higher in the BTBR mice. The investigation of protein levels (using Western blotting) also confirmed this observation. Furthermore, expressions of SphK2 and S1P in the ApoA-I pathway both increased. Using the SphK inhibitor (SKI-II), ASD core phenotype and phenotype-related protein levels of P-CREB, P-CaMKII, and GAD1 were improved, as shown via behavioral and molecular biology experiments. Moreover, by using SKI-II, we found proteins related to the development and function of neuron synapses, including ERK, caspase-3, Bax, Bcl-2, CDK5 and KCNQ2 in BTBR mice, whose levels were restored to protein levels comparable to those in the controls. Elucidating the possible mechanism of ApoA-I in ASD-associated phenotypes will provide new ideas for studies on the etiology of ASD.

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6. Tsaknakis K, Kreuzer JH, Metzger FL, Jäckle K, Lüders KA, Braunschweig L, Lorenz HM, Hell AK. Reduced Volumetric Bone Mineral Density of the Spine in Adolescent Rett Girls with Scoliosis. Children (Basel, Switzerland). 2022; 9(12).

In advanced Rett syndrome (RTT), limited or complete loss of ambulation, nutritional problems and scoliosis are unfavorable factors for bone mineral density (BMD). Still, there are few data available in this research area. Spinal quantitative computed tomography (QCT) allows an exact measurement of the volumetric BMD (vBMD) in this patient group. Two examiners measured vBMD of thoracic and lumbar vertebrae on asynchronous calibrated CTs that were acquired prior to surgical scoliosis correction (n = 21, age 13.6 ± 2.5 years). The values were compared to age- and sex-matched healthy controls to additionally derive Z-scores (n = 22, age 13.8 ± 2.0 years). The results showed the most significant reduction of vBMD values in non-ambulatory RTT patients, with p < 0.001 and average BMD-Z-score -1.5 ± 0.2. In the subgroup comparison, non-ambulatory patients with valproate treatment had significant lower values (p < 0.001) than ambulatory patients without valproate therapy, with an average BMD-Z-score of -2.3 ± 0.2. Comparison of the Z-scores to critical BMD thresholds of 120 and 80 mg/cm(3) showed normal Z-scores in case of the ambulatory RTT subgroup, as opposed to BMD-Z-scores of the non-ambulatory RTT subgroups, which were partially below osteopenia-equivalent values. Furthermore, valproate treatment seems to have a direct effect on vBMD in RTT patients and when combined with loss of ambulation, BMD-Z-scores are reduced to osteoporosis-equivalent levels or even further.

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7. Vess SF, Campbell JM. Parent-child interaction therapy (PCIT) with families of children with autism spectrum disorder. Autism & developmental language impairments. 2022; 7: 23969415221140707.

BACKGROUND AND AIMS: Parent-child interaction therapy (PCIT) is an evidence-based behavioral parent training program designed for preschool-age children that emphasizes supporting parent-child interaction patterns to improve child behavior and enhance the quality of parent-child relationships. PCIT has been deemed efficacious in treating children with disruptive behavior disorders, and recent studies have shown promising results utilizing aspects of PCIT with children with autism spectrum disorder (ASD), but none of these studies applied the entire PCIT intervention per manual protocol. The present study is the first to test the efficacy of PCIT, without modification, with families of preschool-age children with ASD without comorbid behavioral difficulties. METHODS: This study employed a single-subject multiple-probe design to evaluate the efficacy of PCIT with four families with children with ASD between the ages of 2 and 4 years old (M = 40 months) over a 4-month period. RESULTS: PCIT was effective in increasing positive parenting behavior, decreasing negative parenting behavior, and increasing child compliance to parental commands. Parents reported greater confidence in parenting abilities post-treatment and significant improvement in the core areas of autism symptomatology. Parents endorsed significant improvement in aspects of the parent-child relationship, such as attachment and involvement. CONCLUSIONS: Parents of children with ASD demonstrated more positive and effective parenting behavior and reported enhancements in the parent-child relationship after participating in PCIT. Children were more compliant to parental commands and exhibited improvements in social and behavioral functioning. Increases in positive parenting behaviors and child compliance to parental requests were maintained 1 month after treatment and outside the clinic setting during generalization sessions. Parents of children with ASD reported a high degree of satisfaction with PCIT. IMPLICATIONS: The present study provides initial evidence of the efficacy of utilizing PCIT with families of preschool-age children with ASD and supports the continued investigation of the efficacy of PCIT with this population.

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8. Wang H, Wu X, Chen Y, Hou F, Zhu K, Jiang Q, Xiao P, Zhang Q, Xiang Z, Fan Y, Xie X, Li L, Song R. Combining multi-omics approaches to prioritize the variant-regulated functional long non-coding RNAs in autism spectrum disorder. Asian journal of psychiatry. 2022; 80: 103357.

OBJECTIVE: Rising evidence has indicated that long non-coding RNA (lncRNA) may play an essential role in the development of autism spectrum disorder (ASD). However, identifying the lncRNAs associated with ASD and the risk loci on them remains a major challenge. This study aims to identify potential causative variants and explore the related mechanisms. METHODS: By leveraging differential expression analysis, WGCNA analysis and cis-expression quantitative analysis, our study mined functional SNPs with the regulated long non-coding RNA genes in brain tissues. We recruited 611 ASD children and 645 healthy children in the case-control study. RESULTS: Total 68 different expressed lncRNAs were validated by calculating the brain tissue-specific expression using RNA-seq data. By the WGCNA method, 9 functional lncRNAs classified as e-lncRNA were found to interact with 976 ASD risk genes. Furthermore, we mined functional SNPs regulated long non-coding RNAs in brain tissues. We analyzed the association between candidate SNPs and ASD risks in Chinese children, which showed BDNF-AS rs1565228 allele G to C reduced the risk of ASD (OR = 0.81, 95%CI: 0.66-0.98). Further bioinformatics analysis showed that the variant rs1565228 C>G with the low binding affinity of transcription factor SRF caused the decreased expression of lncRNA BDNF-AS. Our study revealed that rs2295412 in the non-coding sequence of the lncRNA gene region was significantly associated with the risk of ASD. DISCUSSION: These findings suggested that the SNPs in the non-coding region of lncRNA may play important roles in the genetic susceptibility of ASD, which may facilitate the early screening of ASD.

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9. Wodziński M, Rządeczka M, Moskalewicz M. How to Minimize the Impact of Experts’ Non-rational Beliefs on Their Judgments on Autism. Community mental health journal. 2022: 1-14.

The non-autistic majority often judges people on the autism spectrum through the prism of numerous stereotypes, prejudices, cognitive biases, or, generally speaking, non-rational beliefs. This causes problems in autistic people’s everyday lives, as they often feel stigmatized, marginalized, and they internalize deficit-laden narratives about themselves. Unfortunately, experts, including health or law professionals, are not entirely immune to these non-rational beliefs, which affect their decision-making processes. This primarily happens when a mix of background knowledge, overconfidence, and haste co-occur. The resulting decisions may impact autistic people, e.g., by determining eligibility for the state’s therapeutical and financial support. This paper shows how simplified reasoning and inference may influence experts’ (medical examiners or court expert witnesses) decision-making processes concerning autistic people. It also proposes particular clues and strategies that could help experts cope with this risk and avoid making biased decisions.

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