1. Adams L, Adamo N, Hollocks MJ, Watson J, Brewster A, Valmaggia L, Jewitt E, Edwards J, Krisson M, Simonoff E. Autistic young people’s experiences of remote psychological interventions during COVID-19. Autism : the international journal of research and practice. 2023: 13623613221142730.

Recently, therapy has been delivered at a distance (i.e. remotely) to help control the spread of coronavirus. Clinicians have voiced concerns that remote delivery is unsuitable for certain individuals, including those who are autistic, but they have also highlighted potential benefits for autistic individuals. Benefits include some individuals feeling more comfortable receiving therapy at home. This is the first study to interview autistic individuals about their experience of remote therapy. Participants were six young people aged 15-18 years and eight clinicians. Participants described their experience of remote delivery, including challenges, benefits, and suggestions. Most of these supported previous research findings, but some were new or provided further insight into those already identified. A newly identified challenge was knowing online social etiquette. All participants found aspects of the experience challenging, but all identified benefits and most voiced that remote sessions should be offered to young people. Participants further identified individual characteristics that may make someone less suited to remote delivery (e.g. shyness). They also identified ways of making the experience of remote delivery easier (e.g. sitting with a pet). Young people’s and clinicians’ views were similar overall, with only subtle differences. For example, young people uniquely voiced that remote delivery was similar to in-person, that benefits were hard to identify, and provided distinct reasons for the social interaction feeling less intense remotely. Findings may be used to improve remote delivery, for guiding future research, and as a case for continuing to offer it to those who may most benefit.

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2. Alonso-López N, Hernández-Valle V, Pedroza-Vargas ME, García-Medina NE. [Prevalence of neurodevelopmental disorders in children from the rural population of Oaxaca evaluated by means of the Child Development Evaluation test]. Revista de neurologia. 2023; 76(2): 41-6.

INTRODUCTION: During child’s growth, access to health, nutrition, opportunities for stimulation, and early learning are necessary for an optimal development of the central nervous system. In rural areas there is a lack of access to them, and this has an impact on children’s neurodevelopment. OBJECTIVE: To identify the prevalence of lag or delay in the development of children in rural areas. SUBJECTS AND METHODS: A descriptive, cross-sectional and prospective study, with non-probabilistic convenience sampling, where 97 infants from 1 month of age to one day before their 5th birthday, all belonging to rural communities in the state of Oaxaca, Mexico, were applied the Child Development Evaluation, designed and validated for the Mexican population in the early detection of neurodevelopmental problems. RESULTS: The prevalence of developmental disorders was 43%, with predominance in the male sex. The area of development with the greatest affectation was language, with a total of 29%, and in second place gross motor skills, with 18%; however, neurological affectation as the only one occurred in 2% of the participants, the most prevalent risk factors were the urinary tract infections in 56% of mothers. CONCLUSION: There is a percentage greater than 30% of neurodevelopmental disorders in rural communities due to social risk factors that infants face, such as the difficult access to medical care, a poorly stimulating environment and bad nutrition.

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3. Casseus M, Kim WJ, Horton DB. Prevalence and treatment of mental, behavioral, and developmental disorders in children with co-occurring autism spectrum disorder and attention-deficit/hyperactivity disorder: A population-based study. Autism research : official journal of the International Society for Autism Research. 2023.

There is a lack of nationally representative studies examining the co-occurrence of autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) in children. This study examines comorbid mental, behavioral, and developmental disorders (MBDDs) and associated treatment modalities for children with co-occurring ASD and ADHD. Cross-sectional analyses were conducted using data from the pooled 2016-2018 National Survey of Children’s Health (sample n = 102,341). Nationally representative prevalences were estimated for sociodemographic variables, comorbidities, psychotropic medication, and behavioral treatment. We assessed multivariable associations between co-occurring ASD + ADHD and MBDDs, use of psychotropic medication, and receipt of behavioral treatment after adjustment for sociodemographic confounders. Compared to children with ASD without co-occurring ADHD, children with ASD + ADHD had higher prevalence of most MBDDs, including anxiety (AOR 4.03 [95% CI 2.77, 4.87]), depression (AOR 3.08 [95% CI 1.77, 5.36]), behavior or conduct problems (AOR 4.06 [95% CI 2.72, 6.06]), and other mental health conditions. Similarly, compared to children with ADHD without ASD, children with ASD + ADHD had higher odds of anxiety (AOR 3.49 [95% CI 2.65, 4.61]), depression (AOR 1.67 [95% CI 1.21, 2.29]), behavior or conduct problems (AOR 2.31 [95% CI 1.68, 3.17]), and other mental health conditions. Children with ASD + ADHD were significantly more likely to take psychotropic medication than children with ASD without ADHD. Among children with ASD + ADHD, males had higher odds of receiving behavioral treatment, whereas older children and adolescents were more likely to take psychotropic medication. A multidisciplinary approach is necessary to support the complex needs of these children.

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4. Coleman J, Thompson T, Riley K, Allen K, Michalak C, Shields R, Berry-Kravis E, Hessl D. The comparison of expressed emotion of parents of individuals with fragile X syndrome to other intellectual disabilities. Journal of applied research in intellectual disabilities : JARID. 2023.

BACKGROUND: Parenting children and young adults with intellectual disabilities, including individuals with fragile X syndrome and Down syndrome, is challenging, joyful, and complicated. Exploring how parents talk about their children, and the quality of the parent/child relationship can provide insight into the home environment and interactional patterns of the family. METHOD: Expressed emotion (EE) is a measurement of a family’s emotional climate based on a parent or caregiver’s report of warmth, emotional overinvolvement, hostility, and criticism. The purpose of this study was to describe EE for a sample of parents of individuals with intellectual disabilities and to determine any differences in EE amongst individuals within subgroups. Based on previous research about fragile X syndrome and family systems, we hypothesized that there would be significant differences between the disability groups (higher EE in families with children/young adults with fragile X syndrome). RESULTS: Results showed relatively high proportions of EE across groups of individuals with intellectual disabilities, however, there were no significant differences between the subgroups. Null findings suggest that differences in EE may not relate directly to a child’s specific genetic condition. Rather, increased EE in caregiver populations may simply reflect well-documented stressors related to stigma, caregiver burden, and limited community supports. Critical statements were infrequent, however, over half of the participants reported dissatisfaction with their situation, and many were categorized as having emotional overinvolvement, as measured by frequent statements of intense worry and self-sacrifice. CONCLUSION: Findings point to potential utility in family-level interventions focused on providing structured caregiver therapy to manage excessive worry and grief related to a diagnosis of intellectual disability, and respite care to encourage caregiver independence and pursuit of personal care.

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5. Hargitai LD, Livingston LA, Waldren LH, Robinson R, Jarrold C, Shah P. Attention-deficit hyperactivity disorder traits are a more important predictor of internalising problems than autistic traits. Scientific reports. 2023; 13(1): 31.

Autism Spectrum Disorder (ASD) and Attention-Deficit Hyperactivity Disorder (ADHD) are both linked to internalising problems like anxiety and depression. ASD and ADHD also often co-occur, making their individual statistical contributions to internalising disorders difficult to investigate. To address this issue, we explored the unique associations of self-reported ASD traits and ADHD traits with internalising problems using a large general population sample of adults from the United Kingdom (N = 504, 49% male). Classical regression analyses indicated that both ASD traits and ADHD traits were uniquely associated with internalising problems. Dominance and Bayesian analyses confirmed that ADHD traits were a stronger, more important predictor of internalising problems. However, brief depression and anxiety measures may not provide a comprehensive index of internalising problems. Additionally, we focused on recruiting a sample that was representative of the UK population according to age and sex, but not ethnicity, a variable that may be linked to internalising disorders. Nevertheless, our findings indicate that while ASD and ADHD uniquely predict internalising problems, ADHD traits are a more important statistical predictor than ASD traits. We discuss potential mechanisms underlying this pattern of results and the implications for research and clinical practice concerning neurodevelopmental conditions.

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6. Lamash L, Gal E, Bedell G. Social Participation and Navigation: Formative Evaluation of a Remote Intervention for Autistic Adolescents and Young Adults. OTJR : occupation, participation and health. 2023: 15394492221146726.

Remote interventions can uniquely benefit and significantly increase the motivation/engagement of autistic adolescents and young adults (AYA) in intervention processes. The evidence-based, technology-based Social Participation and Navigation (SPAN), originally a remote intervention for AYA with traumatic brain injuries, shows great promise for autistic AYA. This formative evaluation aimed to inform SPAN adaptations for autistic AYA. Fifteen researcher and clinician stakeholders provided feedback and modification recommendations via a semistructured interview. Stakeholders described potential participants who might benefit, intervention goals, intervention delivery procedures, and additional program-content and technology suggestions, including original components to preserve or adjust. Findings provided a basis for developing a new SPAN-ASD website and intervention manual. The next steps include assessing website usability and feasibility and a pilot implementation study of SPAN-ASD with autistic AYA.

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7. Lipkin WI, Bresnahan M, Susser E. Cohort-guided insights into gene-environment interactions in autism spectrum disorders. Nature reviews Neurology. 2023: 1-8.

Prospective birth cohorts offer unprecedented opportunities to investigate the pathogenesis of complex disorders such as autism, in which gene-environment interactions must be appreciated in a temporal context. This Perspective article considers the history of autism research, including missteps that reflected an incomplete understanding of the epidemiology of autistic spectrum disorders, the effects of advocacy and philanthropy on the trajectory of scientific inquiry, and the current and future roles of prospective birth cohort research in illuminating the pathology of these and other complex disorders wherein exposures during gestation might not manifest until later in life.

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8. Moghaddam AH, Eslami A, Jelodar SK, Ranjbar M, Hasantabar V. Preventive effect of quercetin-Loaded nanophytosome against autistic-like damage in maternal separation model: The possible role of Caspase-3, Bax/Bcl-2 and Nrf2. Behavioural brain research. 2023; 441: 114300.

The autism is an abnormality in the neuronal advance which starts before age 3 recognized by defective behaviors. This study aimed to make quercetin-loaded nanophytosomes (QNP) on behavioral deficits, cerebellar oxidative stress and apoptosis in an autistic-like model caused by maternal separation (MS). The newborn rats are randomly categorized into seven groups, including control, positive control, disease, and diseases treated with quercetin (10 and 40 mg/kg) and QNP (10 and 40 mg/kg). Pups exposed to MS for 3 h per day from postnatal days (PND) 1-9 showed behavioral impairment in adult rats compared to control group. The oral administration of quercetin and QNP was constantly started after the lactation period (21 postnatal days) for three weeks. Autistic-like behaviors, antioxidant parameters, and Nrf2, Bax/Bcl-2, and Caspase-3 expressions were surveyed in the cerebellum. Quercetin (40 mg/kg) treated improved some behavioral disorders. Also, the improvement of oxidative stress parameters, Nrf2 and apoptotic factors gene expression was observed in the cerebellum of quercetin (40 mg/kg) treated (p < 0.01). QNP treatment (10 and 40 mg/kg) significantly ameliorated anxiety-like behaviors, line crossing, and grooming index (p < 0.001), lipid peroxidation (p < 0.001), and increased catalase (CAT) (p < 0.001), superoxide dismutase (SOD) (p < 0.001), glutathione peroxidase (GPx) (p < 0.001) activity, and glutathione (GSH) levels (p < 0.05). Moreover, QNP significantly reduced Caspase-3 and Bax expression (p < 0.001), but increased Bcl-2, and Nrf2 expressions (p < 0.001). These findings indicated that QNP due to its high bioavailability was more effective than quercetin can be reduced autistic-like behavior, oxidative and apoptotic damages in the model of MS rats.

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9. Nakamura T, Kaneko T, Sasayama D, Yoshizawa T, Kito Y, Fujinaga Y, Washizuka S. Cerebellar network changes in depressed patients with and without autism spectrum disorder: A case-control study. Psychiatry research Neuroimaging. 2023; 329: 111596.

Pathophysiological difference of depression in patients with and without autistic spectrum disorder (ASD) has not been investigated previously. Therefore, we sought to determine whether there were differences between non-ASD and ASD groups on resting-state functional magnetic resonance imaging (rs-fMRI) in patients with depression. We performed 3T MRI under resting state in 8 patients with depression and ASD and 12 patients with depression but without ASD. The ASD group showed increased functional connectivity in the cerebellar network of the left posterior inferior temporal gyrus and anterior cerebellar lobes compared to the non-ASD group in an analysis of covariance. Adding antipsychotics, antidepressants, benzodiazepines, nonbenzodiazepines, anxiolytics, hypnotics, or age as covariates showed a similar increase in functional connectivity. Thus, this study found that depressive patients with ASD had increased functional connectivity in the cerebellar network. Our findings suggest that fMRI may be able to evaluate differences in depressed patients with and without ASD.

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10. Peries M, Duhr F, Picot MC, Heude B, Bernard JY, Baghdadli A. Breastfeeding is not a risk factor for clinical severity in Autism spectrum disorder in children from the ELENA cohort. Scientific reports. 2023; 13(1): 816.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder that results from a complex interaction between genes and environment. Breastfeeding (BF) is thought to promote healthy cognitive development, and a body of research has suggested that it may also protect against ASD. Our objectives were to identify the relationship between the initiation and duration of BF and the severity of clinical presentation in ASD. Data were collected from 243 children with a confirmed diagnosis of ASD followed in the ELENA cohort. Clinical severity was measured according to multiple dimensions using standardised tools. The frequency of the initiation of BF was comparable to that of the general population and the rate of children still being breastfed at six months of age was higher. Our results did not indicate a contribution of initiation or duration of BF to the prevention of clinical severity of ASD. We discuss our results in the light of possible methodological limitations of previous reports of an association between BF and ASD.Clinical Trial Registration: NCT02625116.

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11. Petriti U, Dudman DC, Scosyrev E, Lopez-Leon S. Global prevalence of Rett syndrome: systematic review and meta-analysis. Systematic reviews. 2023; 12(1): 5.

BACKGROUND: Rett syndrome is a rare, severe neurodevelopmental disorder. Almost all cases occur in girls, in association with spontaneous (non-inherited) mutations involving the methyl-CpG-binding protein 2 gene located on the X chromosome. Diagnostic criteria for typical Rett syndrome require a period of regression, followed by recovery or stabilization, and fulfillment of all four main criteria (loss of purposeful hand skills, loss of spoken language, gait abnormalities, and stereotypic hand movements). Our objective was to estimate the prevalence of Rett syndrome in the general population, stratified by sex. METHODS: We conducted a search of PubMed, Embase, Web of Science, Cochrane Library, LILACS, and LIVIVO to retrieve studies published in English between Jan. 1, 2000, and June 30, 2021. Pooled prevalence with a 95% confidence interval (CI) was estimated using a random-effects meta-analysis based on a generalized linear mixed model with a logit link. RESULTS: Ten eligible studies were identified (all in females), with a combined sample size of 9.57 million women and 673 Rett syndrome cases. The pooled prevalence estimate (random effects) was 7.1 per 100,000 females (95% CI: 4.8, 10.5, heterogeneity p < 0.001). Despite greatly variable precision of estimation, all estimates were compatible with a prevalence range of approximately 5 to 10 cases per 100,000 females based on their respective 95% CIs. CONCLUSION: These findings may facilitate planning of therapeutic trials in this indication in terms of target sample size and accrual times.

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12. Ravaei A, Emanuele M, Nazzaro G, Fadiga L, Rubini M. Placental DNA methylation profile as predicting marker for autism spectrum disorder (ASD). Molecular medicine (Cambridge, Mass). 2023; 29(1): 8.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder that impairs normal brain development and socio-cognitive abilities. The pathogenesis of this condition points out the involvement of genetic and environmental factors during in-utero life. Placenta, as an interface tissue between mother and fetus, provides developing fetus requirements and exposes it to maternal environment as well. Therefore, the alteration of DNA methylation as epigenetic consequence of gene-environmental interaction in the placenta could shed light on ASD pathogenesis. In this study, we reviewed the current findings on placental methylation status and its association with ASD. Differentially methylated regions (DMRs) in ASD-developing placenta were found to be mainly enriched in ASD gene loci affecting synaptogenesis, microtubule dynamics, neurogenesis and neuritogenesis. In addition, non-genic DMRs in ASD-placenta proposes an alternative contributing mechanism for ASD development. Our study highlights the importance of placental DNA methylation signature as a biomarker for ASD prediction.

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13. Sheth F, Shah J, Patel K, Patel D, Jain D, Sheth J, Sheth H. A novel case of two siblings harbouring homozygous variant in the NEUROG1 gene with autism as an additional phenotype: a case report. BMC neurology. 2023; 23(1): 20.

INTRODUCTION: NEUROG1 gene is yet to be associated with a set of human phenotypes in the OMIM database. Three cases have previously been diagnosed with cranial dysinnervation due to biallelic variants in the NEUROG1 gene. This is the fourth and a novel report of a sibling pair harboring a homozygous variant in the NEUROG1 gene with autism as an additional phenotype. A brief review of the literature in conjunction with a genotype-phenotype correlation has been described. A potential hypothesis for the presence of the autistic phenotype in the present case has also been elucidated. CASE PRESENTATION: A female aged 6 years and 9 months born to endogamous and phenotypically healthy parents was diagnosed with global developmental delay, autism spectrum disorder, hearing loss, corneal opacity and no eye blinking. Her MRI of the brain revealed mild peritrigonal white matter hyperintensity, and MRI and CT scan of the temporal bones showed abnormal cranial nerves. The proband’s younger sister, aged 4-years, was similarly affected. Whole exome sequencing was performed in the proband, which revealed a novel homozygous, likely pathogenic, truncating frameshift variant, c.228_231dup (p.Thr78ProfsTer122) in exon 1 of the NEUROG1 gene (ENST00000314744.4). Segregation analysis by Sanger sequencing showed the proband and her younger sister to be homozygotes and their parents to be heterozygous carriers. CONCLUSION: This is the fourth report across the globe with a variant identified in the NEUROG1 gene to be associated with cranial dysinnervation phenotype. An additional phenotype of autism in two female siblings was a novel observation. We provide a hypothetical framework which could explain the pleiotropic effect of a dysfunctional NEUROG1 protein leading to autism and posit it as a candidate for diagnosis of autism spectrum disorder with congenital cranial dysinnervation disorder.

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14. Tomaiuolo P, Piras IS, Sain SB, Picinelli C, Baccarin M, Castronovo P, Morelli MJ, Lazarevic D, Scattoni ML, Tonon G, Persico AM. RNA sequencing of blood from sex- and age-matched discordant siblings supports immune and transcriptional dysregulation in autism spectrum disorder. Scientific reports. 2023; 13(1): 807.

Autism spectrum disorder (ASD) is a neurodevelopmental condition with onset in early childhood, still diagnosed only through clinical observation due to the lack of laboratory biomarkers. Early detection strategies would be especially useful in screening high-risk newborn siblings of children already diagnosed with ASD. We performed RNA sequencing on peripheral blood, comparing 27 pairs of ASD children vs their sex- and age-matched unaffected siblings. Differential gene expression profiling, performed applying an unpaired model found two immune genes, EGR1 and IGKV3D-15, significantly upregulated in ASD patients (both p adj = 0.037). Weighted gene correlation network analysis identified 18 co-expressed modules. One of these modules was downregulated among autistic individuals (p = 0.035) and a ROC curve using its eigengene values yielded an AUC of 0.62. Genes in this module are primarily involved in transcriptional control and its hub gene, RACK1, encodes for a signaling protein critical for neurodevelopment and innate immunity, whose expression is influenced by various hormones and known « endocrine disruptors ». These results indicate that transcriptomic biomarkers can contribute to the sensitivity of an intra-familial multimarker panel for ASD and provide further evidence that neurodevelopment, innate immunity and transcriptional regulation are key to ASD pathogenesis.

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