1. Arutiunian V, Santhosh M, Neuhaus E, Sullivan CAW, Bernier RA, Bookheimer SY, Dapretto M, Geschwind DH, Jack A, McPartland JC, Van Horn JD, Pelphrey KA, Gupta AR, Webb SJ. A common genetic variant in the Neurexin family member CNTNAP2 is related to language but not communication skills in youth with Autism Spectrum Disorder. Autism Res. 2024.

One of the candidate genes related to language variability in individuals with Autism Spectrum Disorder (ASD) is the contactin-associated protein-like 2 gene (CNTNAP2), a member of the Neurexin family. However, due to the different assessment tools used, it is unknown whether the polymorphisms of the CNTNAP2 gene are linked to structural language skills or more general communication abilities. A total of 302 youth aged 7 to 18 years participated in the present study: 131 verbal youth with ASD (62 female), 130 typically developing (TD) youth (64 female), and 41 unaffected siblings (US) of youth with ASD (25 female). Blood samples were collected to obtain genomic DNA and processed by the Rutgers University Cell and Data Repository or using standard protocols (Gentra Puregene Blood DNA extraction kit; Qiagen). Language and verbal communication skills were screened with the Clinical Evaluation of Language Fundamental-4 (CELF-4) and Vineland-II Communication domain, subsequently. The results showed that the polymorphism of CNTNAP2 (SNP rs2710102) was related to structural language abilities, such that participants carrying the A-allele had lower language skills in comparison to the G-allele homozygotes. No relationship was found between the polymorphism of CNTNAP2 and more general communication abilities. Although the study revealed genetic mechanisms that are associated with CELF-4 measures but not Vineland-II in youth with ASD, follow-up studies are needed that will include measures of language and communication that are less correlated to each other as well as will include a group of minimally and/or non-verbal individuals with ASD.

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2. Battanta NK, Jenni OG, Schaefer C, von Rhein M. Autism spectrum: parents’ perspectives reflecting the different needs of different families. BMC Pediatr. 2024; 24(1): 439.

BACKGROUND: Parents of children on the autism spectrum often face great challenges in the care of their child. Early support tailored to families’ individual needs is therefore crucial for the development and quality of life of both children on the autism spectrum and their families. However, to date it is unclear whether the support available meets the parents’ needs. STUDY AIM: To investigate how the system of care, support, and therapies for children on the autism spectrum is perceived by their parents. METHOD: A total of 57 parents of Swiss children on the autism spectrum participated in an online survey, and 20 of them participated in additional semi-structured interviews. RESULTS: We found that parents of children on the autism spectrum may face substantial challenges and that social support is essential. Two thirds of the participating parents reported a long and difficult diagnostic process as challenging, and 60% expressed their need for closer follow-up after diagnosis and more support. Only one third of the parents stated that they manage their everyday lives well, whereas 17.5% felt exhausted, and more than half of the parents responded that they felt challenged. One fifth indicated that they had poor family support, and half reported substantial financial challenges. At the same time, most families also emphasize how important their neurodivergent children are to the family`s life together. CONCLUSION: It is important that primary pediatricians not only initiate the diagnostic process, but also assess the different needs of the different family independent of the diagnosis and, if necessary, initiate adequate measures or guide parents to institutions in charge. Parents who do not actively express their individual needs should nevertheless be advised about support services, including financial counseling. The positive aspects mentioned by families can be emphasized and used as resources to improve their quality of life.

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3. Chen YB, Lin HY, Wang LJ, Hung KC, Brunoni AR, Chou PH, Tseng PT, Liang CS, Tu YK, Lin PY, Carvalho AF, Hsu CW, Ni HC. A network meta-analysis of non-invasive brain stimulation interventions for autism spectrum disorder: evidence from randomized controlled trials. Neurosci Biobehav Rev. 2024: 105807.

The efficacy and acceptability of various non-invasive brain stimulation (NIBS) interventions for autism spectrum disorder remain unclear. We carried out a systematic review for randomized controlled trials (RCTs) regarding NIBS for reducing autistic symptoms (INPLASY202370003). Sixteen articles (N = 709) met the inclusion criteria for network meta-analysis. Effect sizes were reported as standardized mean differences (SMDs) or odds ratios with 95% confidence intervals (CIs). Fourteen active NIBS interventions, including transcranial direct current stimulation (tDCS), repetitive transcranial magnetic stimulation, and transcranial pulse stimulation were analyzed. Only anodal tDCS over the left dorsolateral prefrontal cortex paired with cathodal tDCS over an extracephalic location (atDCS_F3+ctDCS_E) significantly improved autistic symptoms compared to sham controls (SMD = -1.40, 95%CIs = -2.67 to -0.14). None of the NIBS interventions markedly improved social-communication symptoms or restricted/repetitive behaviors in autistic participants. Moreover, no active NIBS interventions exhibited significant dropout rate differences compared to sham controls, and no serious adverse events were reported for any intervention.

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4. den Boer JC, Klip H, Blonk A, Lenselink M, Kaijdoe SPT, Tielkes M, van Zandbeek A, Bres G, Herinx M, Staal WG, Rommelse N. Study Protocol: Pegasus: psychotherapy incorporating horses for ‘therapy-resistant’ adolescents with autism spectrum disorders, a study with series of randomised, baseline controlled n-of-1 trials. BMC Psychiatry. 2024; 24(1): 499.

BACKGROUND: For people with autism spectrum disorder (ASD), daily life can be highly stressful with many unpredictable events that can evoke emotion dysregulation (ED): a strong difficulty with appropriately negative affect regulation. For some of the patients with ASD, treatment as usual does not prove to be effective for ED. They may be at risk of life-long impairment, development of other disorders and loss of motivation for most regular forms of therapy. A highly promising method that may prove effective for therapy-resistant individuals with ASD is Psychotherapy incorporating horses (PIH). PIH uses the interactions of the horse and the patients on the ground and does not include horseriding. While often met with prejudgment and scepticism, reports from parents and therapists as well as a recent systematic review suggest that PIH may have beneficial effects on youths with ASD. Therefore, we examine clinical outcomes both in the short and in the long terms of PIH offered to adolescents with ASD and severe ED despite regular therapy. METHODS: A total of 35 adolescents aged 11-18 years with ASD will receive PIH during 15 sessions once a week with randomization to five different groups differentiating in baseline phase from 2 to 6 weeks. PIH uses horses to promote social awareness and self-awareness as well as relationship management and self-management. The primary outcome is the response to treatment on the Emotion Dysregulation Index (EDI). The secondary outcome measures include ASD symptom severity, quality of life, self-esteem, global and family functioning, and goal attainment. Assessments take place at the baseline (T0), at the end of baseline phase A (T1), after completion of intervention phase B (T2), after the end of post-measurement phase C (T3) and after one year (T4). Qualitative interviews of participants, parents and therapists will be held to reveal facilitators and barriers of PIH and a cost-effectiveness study will be performed. DISCUSSION: This study aims at contributing to clinical practice for adolescents with ASD and persistent emotion regulation problems despite 1.5 year of treatment by offering Psychotherapy incorporating horses in a study with series of randomised, baseline controlled n-of-1 trials. TRIAL REGISTRATION: www. CLINICALTRIALS: gov NCT05200351, December 10th 2021.

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5. Durankuş F, Erdoğan F, Durankuş R, Gulek A, Bas RK, Albayrak Y, Yilmaz K. Investigation of the relationship between the sense of coherence and the level of depression in mothers of children with autism. Int J Dev Neurosci. 2024.

INTRODUCTION: Autism spectrum disorder (ASD) is a neurodevelopmental disorder originating from early childhood. Although there are studies investigating the sense of coherence in caregivers of children with ASD, there is not a previous study in our country. In this study, we aimed to examine the relationship between the sense of coherence and depression levels in mothers of children with ASD. METHOD: Seventy-five mothers of children followed up in rehabilitation centers with the diagnosis of ASD were included in this study. Beck Depression Inventory (BDI) and Sense of Coherence Scale-13 (SOC-13) were administered to mothers. Participants were divided into two groups: a depressive group and a control group according to the BDI cut-off score. SOC-13 total score and sub-scores were compared between these groups. RESULTS: According to the BDI cut-off score, 45 participants (60%) were included in the depressive group. Total SOC-13 score and sub-scores were found to be statistically significantly lower in the depressive group compared with the control group. CONCLUSION: Our study is the first study in our country to examine the relationship between the sense of coherence and depression in mothers of children with ASD. The results showed that there was a significant negative correlation between depression scores and sense of coherence. It is predicted that psychological interventions that will improve the sense of coherence of mothers with children with ASD may play an important role in the treatment of depression, thus leading to an increase in the quality of care provided by parents.

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6. Eroglu M, Efendi GY, Temelturk RD, Yaksi N. Living on with autism after a devastating earthquake: experiences of children and adolescents in Turkey. Int J Dev Disabil. 2024; 70(4): 766-76.

INTRODUCTION: The current study aimed to investigate the psychological impact of the Turkey 2023 earthquakes on children with autism spectrum disorder (ASD) and their parents residing in Hatay, Sanlıurfa, and Ankara provinces, encompassing the periods both before and after the Turkey 2023 earthquakes. METHOD: This cross-sectional, multicenter study included 103 children and adolescents with ASD aged between 6 and 18. Participants were evaluated based on their residence in Ankara, Hatay, and Sanlıurfa, three cities affected differently by the earthquake. Parent-report questionnaires were utilized to assess the children’s autism symptoms and behavioural problems. The Childhood Autism Rating Scale was used to determine autism severity. The psychiatric problems of mothers were also assessed with self-report scales. RESULTS: Significantly increased levels of core autism symptoms, irritability, and hyperactivity were found in Hatay and Sanlıurfa participants after the earthquakes compared to before, while no differences were detected in children from the Ankara group. Scale score increases in the Hatay group, which had to take a more extended break from special education, were higher than in the Sanlıurfa group. Participants with late-diagnosed ASD exhibited a more significant increase in their scale scores after the earthquake. Depression, stress and hopelessness scores were the highest, and the life satisfaction levels were the lowest in mothers of the Hatay and Sanlıurfa groups. More pronounced increases were observed in aberrant behaviours among children of mothers with low educational levels following the earthquake. DISCUSSION: Our findings demonstrate that the exacerbation of core ASD symptoms and behavioural deterioration after the earthquakes are associated with disruptions in specialized education services, exposure to earthquake-related trauma, and the educational level of mothers.

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7. Rahman MM, Muniyandi RC, Sahran S, Usman OL, Moniruzzaman M. Restoring private autism dataset from sanitized database using an optimized key produced from enhanced combined PSO-GWO framework. Sci Rep. 2024; 14(1): 15763.

The timely identification of autism spectrum disorder (ASD) in children is imperative to prevent potential challenges as they grow. When sharing data related to autism for an accurate diagnosis, safeguarding its security and privacy is a paramount concern to fend off unauthorized access, modification, or theft during transmission. Researchers have devised diverse security and privacy models or frameworks, most of which often leverage proprietary algorithms or adapt existing ones to address data leakage. However, conventional anonymization methods, although effective in the sanitization process, proved inadequate for the restoration process. Furthermore, despite numerous scholarly contributions aimed at refining the restoration process, the accuracy of restoration remains notably deficient. Based on the problems identified above, this paper presents a novel approach to data restoration for sanitized sensitive autism datasets with improved performance. In the prior study, we constructed an optimal key for the sanitization process utilizing the proposed Enhanced Combined PSO-GWO framework. This key was implemented to conceal sensitive autism data in the database, thus avoiding information leakage. In this research, the same key was employed during the data restoration process to enhance the accuracy of the original data recovery. Therefore, the study enhanced the restoration process for ASD data’s security and privacy by utilizing an optimal key produced via the Enhanced Combined PSO-GWO framework. When compared to existing meta-heuristic algorithms, the simulation results from the autism data restoration experiments demonstrated highly competitive accuracies with 99.90%, 99.60%, 99.50%, 99.25%, and 99.70%, respectively. Among the four types of datasets used, this method outperforms other existing methods on the 30-month autism children dataset, mostly.

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8. Salleh NS, Tang LY, Husain M, Lim Abdullah K, Kueh YC. Affiliate Stigma, Resilience and Quality of Life among Parents of Children with Autism Spectrum Disorder in Two Public Hospitals in Kelantan, Malaysia. Malays J Med Sci. 2024; 31(3): 217-28.

BACKGROUND: Often, the indirect impact of autism spectrum disorder (ASD) presents the family with significant challenges. One of these challenges is affiliate stigma due to parental affiliation with their child. This study aimed to explore affiliate stigma, resilience and quality of life (QoL) among parents of children with ASD. METHODS: Cross-sectional study of 144 parents of children with ASD were recruited from two main tertiary hospitals in Kelantan, Malaysia, a developing country in Southeast Asia. Pearson correlation was used to examine the relationship between parental affiliate stigma, resilience and QoL. Simple and multiple linear regression analyses were used to identify the significant associated factors of affiliate stigma, resilience and QoL. RESULTS: Correlational analyses revealed that perceived affiliate stigma demonstrated an inverse relationship with resilience and QoL. Additionally, resilience had a positive relationship with QoL. Regression analyses revealed that the father’s employment status, the mother’s level of education, having a disability card, the child’s age at ASD diagnosis, comorbidities of the child and ASD severity perceived by parents were associated with parental affiliate stigma, resilience and QoL. CONCLUSION: Study findings highlight the contribution of socio-demographic characteristics of children with ASD and their families in the determination of affiliate stigma, resilience and QoL.

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9. So SY, Savidge TC. Impact of gut health and microbiome on autism spectrum disorder. Transl Pediatr. 2024; 13(6): 1012-6.

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10. Tagavi DM, Dai YG, Berger NI, Petruccelli M, Scott SE, Oosting D, Howard M, Carter AS, Ingersoll B, Wainer AL, Broder-Fingert S, Stone WL. Applying a User-Centered Design Framework to Develop a Remote Research Assessment Protocol for a Randomized Clinical Trial for Toddlers with Early Autism Characteristics. J Autism Dev Disord. 2024.

COVID-19 required many research teams to shift from in-person to remote assessments, which posed both procedural and theoretical challenges. While research has explored the utility of remote assessments for autism diagnosis from the perspective of families and clinicians, less is known about their application in clinical trials. This paper describes the development of a remote research assessment protocol for a randomized clinical trial focusing on the implementation of reciprocal imitation teaching (RIT) with toddlers in Part C early intervention. This project spans two phases. For Phase 1, our team developed and documented a series of steps utilizing user-centered design (UCD) strategies (e.g., recruiting potential users, creating a prototype, engaging in iterative development) for the purpose of redesigning an assessment protocol for a remote environment. For Phase 2, we examined preliminary outcomes of the redesign process. Primary end users (assessors) rated post-redesign usability and acceptability, while acceptability was examined using attrition data from secondary end users (family participants). Preliminary fidelity of implementation was also examined. The iterative redesign process allowed the research team to refine aspects of the assessment that ultimately led to promising preliminary ratings of usability, acceptability, and feasibility, as well as high fidelity. Preliminary data suggest that the redesigned assessment appears to be an acceptable, feasible, and usable tool for autism clinical trial research and that assessors can use it with fidelity. Further research is needed to examine the reliability and validity of the assessment, as well as implementation characteristics on a larger scale.

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11. Vinci M, Treccarichi S, Galati Rando R, Musumeci A, Todaro V, Federico C, Saccone S, Elia M, Calì F. A de novo ARIH2 gene mutation was detected in a patient with autism spectrum disorders and intellectual disability. Sci Rep. 2024; 14(1): 15848.

E3 ubiquitin protein ligase encoded by ARIH2 gene catalyses the ubiquitination of target proteins and plays a crucial role in posttranslational modifications across various cellular processes. As prior documented, mutations in genes involved in the ubiquitination process are often associated with autism spectrum disorder (ASD) and/or intellectual disability (ID). In the current study, a de novo heterozygous mutation was identified in the splicing intronic region adjacent to the last exon of the ARIH2 gene using whole exome sequencing (WES). We hypothesize that this mutation, found in an ASD/ID patient, disrupts the protein Ariadne domain which is involved in the autoinhibition of ARIH2 enzyme. Predictive analyses elucidated the implications of the novel mutation in the splicing process and confirmed its autosomal dominant inheritance model. Nevertheless, we cannot exclude the possibility that other genetic factors, undetectable by WES, such as mutations in non-coding regions and polygenic risk in inter-allelic complementation, may contribute to the patient’s phenotype. This work aims to suggest potential relationship between the detected mutation in ARIH2 gene and both ASD and ID, even though functional studies combined with new sequencing approaches will be necessary to validate this hypothesis.

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12. Wei S, Huang X, Qin L, Qin M, Zhou Y, Yu B, Yuan D, Yi R, Tian Y. [Analysis of a child with developmental disorder and epilepsy due to a homozygous variant of SLC25A12 gene]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024; 41(7): 830-4.

OBJECTIVE: To explore the genetic basis for a child featuring global developmental delay and epilepsy. METHODS: A child who had presented at Guangzhou Women and Children’s Medical Center Liuzhou Hospital on February 19, 2023 was selected as the study subject. Clinical data of the child was collected. The child was subjected to whole exome sequencing, and candidate variant was validated by Sanger sequencing and bioinformatic analysis. RESULTS: The child, an 8-month-old girl, had manifested with global developmental delay, epilepsy, and hyperlactacidemia. Cranial MRI revealed diverse hypomyelinating leukodystrophies. Electroencephalogram showed slow background activities. Genetic testing revealed that she has harbored a homozygous variant of the SLC25A12 gene, namely c.115T>G (p.Phe39Val), for which both of her parents were heterozygous carriers. Based on the guidelines from the American College of Medical Genetics and Genomics, the variant was predicted to be of uncertain significance (PM2_Supporting+PM3_Supporting+PP3_Moderate+PP4_Moderate). I-Mutant v3.0 software predicted that the variant may affect the stability of protein product. CONCLUSION: The homozygous c.115T>G (p.Phe39Val) variant of the SLC25A12 gene probably underlay the pathogenesis of the disease in this child.

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13. Xie Z, Li C, Chen C, Huang B, Liu L, Ao D. [Clinical phenotype and genetic analysis of a child with Intellectual developmental disorder and epilepsy due to variant of CLTC gene]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024; 41(7): 817-20.

OBJECTIVE: To explore the clinical features and genetic basis for a child with Intellectual developmental disorder (IDD) and epilepsy. METHODS: A child who was admitted to the Children’s Medical Center of the Affiliated Hospital of Guangdong Medical University in February 2021 was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples of the child and her parents were collected and subjected to whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing. RESULTS: The patient, a 3-month-and-27-day female infant, had developed the symptoms in the neonatal period, which included severe developmental delay, respiratory difficulties and pauses, increased muscle tone of four limbs, feeding difficulty, and seizures. Cerebral MRI revealed bilateral cerebellar hypoplasia, and video EEG showed slightly increased sharp waves emanating predominantly from the right parietal, occipital, and posterior temporal regions. WES revealed that she has harbored a missense c.3196G>A (p.Glu1066Lys) variant of the CLTC gene, which was confirmed to be de novo by Sanger sequencing. Based on the guideline from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as likely pathogenic (PS2+PM2_Supporting+PP3). CONCLUSION: The c.3196G>A (p.Glu1066Lys) missense variant of the CLTC gene probably underlay the pathogenesis in this child. Above finding has facilitated her diagnosis and treatment.

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