1. Chen YJ, Sideris J, Watson LR, Crais ER, Baranek GT. Developmental trajectories of sensory patterns from infancy to school age in a community sample and associations with autistic traits. Child development. 2022.

This prospective study examined the latent growth trajectories of sensory patterns among a North Carolina birth cohort (N = 1517; 49% boys, 87% White) across infancy (6-19 months), preschool (3-4 years), and school years (6-7 years). Change rates of sensory hyper- and hyporesponsiveness better differentiated children with an autism diagnosis or elevated autistic traits from those with other developmental conditions, including non-autistic children with sensory differences. More sensory hyper- and hyporesponsiveness at infancy followed by steeper increases differentially predicted more autistic traits at school age. Further, children of parents with higher education tended to show stable or improving trajectories. These findings highlight the importance of tracking sensory patterns from infancy for facilitating early identification of associated challenges and tailored support for families.

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2. Davenport MA, Berry JR, Mazurek MO, McCrae CS. Using Telehealth to Deliver Family-Based Cognitive Behavioral Treatment of Insomnia in a School-Aged Child With Autism Spectrum Disorder. Journal of cognitive psychotherapy. 2021; 35(4): 235-54.

Chronic insomnia (>3 months) is common in children with autism. Cognitive behavioral treatment for insomnia in children (CBT-CI) holds promise for improving sleep and daytime functioning in school-aged children with autism and their parents, but typical delivery involving multiple in-person office visits limits accessibility. This case study describes telehealth delivery of CBT-CI (teleCBT-CI) with a 7-year 4-month-old biracial boy with autism spectrum disorder (ASD) and insomnia and his parents. He and his mother wore actigraphs and completed electronic sleep diaries for 2 weeks, and his mother completed the Aberrant Behavior Checklist at pre/post/1-month follow-up. He and both of his parents completed eight telehealth treatment sessions. TeleCBT-CI improved the boy’s sleep (objective, subjective) and decreased irritability, lethargy, stereotypy, and hyperactivity. This case study shows that teleCBT-CI is feasible and can improve child sleep and functioning.

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3. Deng W, Li F, Ke H, Wang S, Li Z, Lv P, Chen Y. Effect of metformin in autistic BTBR T + Itpr3tf/J mice administered a high-fat diet. Brain research bulletin. 2022; 183: 172-83.

The biological mechanisms linking diet-related obesity and autism-related behaviors remain unclear. We aimed to characterize these interactions, focusing on gut microbiota, 5-hydroxytryptamine (5-HT) levels, and autistic behaviors in an animal model for autism; a high-fat diet (HFD) BTBR T + Itpr3tf/J (BTBR) mouse. In this model, we also examined the medication effects of metformin (Met) which is known to ameliorate several symptoms of autism spectrum disorder (ASD). Therefore, we hypothesized that HFD exacerbates BTBR autistic symptoms, which can be alleviated by Met, and the effects are associated with serotonin and the microbiota. As expected, compared with mice fed a normal diet, ten-week HFD-fed mice showed increased body weight, adiposity, and glucose levels. HFD consumption markedly aggravated repetitive behaviors in the self-grooming test. Met reduced HFD-induced hyperactivity. Notably, HFD intervention rescued sociability in the three-chamber sociability test. Furthermore, HFD stimulated tryptophan production, which was inhibited by Met. In contrast, 5-HT levels were lower in the gut and higher in the cortex in the HFD group. Moreover, Met suppressed inflammation in the hippocampus of HFD-fed mice by significantly downregulating the expression of pro-inflammatory cytokines (NF-κB, IL-17A, and IL-6). HFD increased the Firmicutes/Bacteroidetes ratio, and Met supplementation decreased richness while increasing bacterial diversity. We found that the abundance of gut microbiota (Lachnoclostridium, Anaerotruncus, Mucispirillum, and Lactococcus) was correlated with behavior scores and 5-HT levels. Overall, HFD consumption improved sociality in BTBR mice, which was related to the modulation of 5-HT levels and the composition of the microbiota. Met did not show any significant positive effects on the autism phenotype associated with HFD.

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4. Golubova TF, Nuvoli AV. [Effect of iodine-bromine baths on stress-systems indicators in children with autism spectrum disorders]. Voprosy kurortologii, fizioterapii, i lechebnoi fizicheskoi kultury. 2022; 99(1): 42-9.

The continuous increase in the prevalence of autism spectrum disorders (ASD) in the population, the debatable nature of many aspects of etiology, pathogenesis, and treatment of these disorders justify the urgent need for the development of effective medical rehabilitation methods affecting the pathogenetic mechanisms.Exposure of children with ASD to external stimuli in excessive force often leads to the stress-systems response not corresponding to the compensation abilities of the body. OBJECTIVE: To evaluate the effect of iodine-bromine baths on stress-system indicators in children with ASD. MATERIAL AND METHODS: The study involved 74 children with ASD (F84) aged 3 to 14 years (mean age 6.23±0.37 years) included in the main group (MG). The control group (CG) consisted of 25 healthy children.The examination included detailed history taking, examination by specialists, assessment of disease severity using CARS scale, evaluation of β-endorphin, adrenocorticotropic hormone (ACTH), and cortisol levels in blood serum by ELISA. Thirty-four (45.9%) children had a moderate autism level (total score 30-37), and 40 (54.1%) children had severe autism (total score 37-60). In the MG, there were 27 (36.5%) children with mild symptoms of hyperactivity (subgroup A) and 47 (63.5%) children with severe aggression, tantrums, and increased hyperactivity (subgroup B). All MG patients were assigned into two subgroups by randomization: Subgroup 1: 30 children with ASD received health resort treatment (HRT) without iodine-bromine baths (IB); Subgroup 2: 44 children with ASD received similar HRT and IB. RESULTS: Statistically significant increase of β-endorphin, ACTH and cortisol levels (p<0.01, p<0.05, p<0.01, respectively) in children with ASD (compared to those in CG children) was identified. In children without hyperactivity, a moderate increase of these parameters was noted; significantly higher values were observed in children with severe hyperactivity, impulsiveness, and aggression (p<0.05, p<0.001, respectively). After treatment, there was a statistically significant increase in β-endorphin level in subgroup 1 children who received HRT without IB, while in children of subgroups A and B (p<0.05, p<0.05, p<0.01, respectively), there was a decrease in ACTH level (p<0.05, p<0.01, p<0.001 respectively) and a trend towards a cortisol level decrease. Inclusion of IB in HRT course associated with a significant decrease of β-endorphin level in children of subgroups A and B (p<0.001), a decrease of ACTH level (p<0.001) and cortisol (p<0.001, p<0.01, p<0.001, respectively), which resulted in vicious circle breaking and normalization of relations between stress-limiting and stress-releasing parts of pathogenesis. CONCLUSION: Most children with autism spectrum disorders showed significant increases in β-endorphin, adrenocorticotropic hormone, and cortisol levels, indicating dysfunction between the stress-limiting and stress-releasing systems, as well as between the central and peripheral parts of the stress-releasing chain. The tonic effect of resort treatment was noted, limiting its use in children with autism spectrum disorders, increased hyperactivity, and aggression. The inclusion of iodine-bromine baths in resort treatment has a calming non-medicinal effect and can be recommended for use in children with symptoms of severe hyperactivity.

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5. Kalin NH. Insights Into the Genomic Underpinnings of Psychopathology. The American journal of psychiatry. 2022; 179(3): 171-4.

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6. Lancastle D, Hill J, Faulkner S, Cousins AL. « The stress can be unbearable, but the good times are like finding gold »: A phase one modelling survey to inform the development of a self-help positive reappraisal coping intervention for caregivers of those with autism spectrum disorder. PloS one. 2022; 17(3): e0264837.

Caregivers of individuals with ASD can experience various practical, psychological, and social demands and need effective ways of coping to ameliorate the negative effects of caregiving. Numerous coping strategies are available, but the literature shows that caregivers can still struggle to cope, suggesting that interventions to support coping efforts could be beneficial. The MRC framework advocates the systematic development and evaluation of interventions, and this study was conducted to inform the future development of a self-help Positive Reappraisal Coping Intervention (PRCI) for these caregivers. The aim was to establish whether positive reappraisal coping strategies were used and associated with greater psychological wellbeing, prior to developing such an intervention. METHOD: Caregivers of individuals with ASD (N = 112) responded to items from an existing PRCI (Lancastle, 2006; Lancastle & Boivin, 2008), by writing about aspects of caregiving that reflected the meaning of each item. They also completed questionnaires assessing resilience, caregiving burden, and positive and negative emotions. RESULTS: Participants provided significantly more positive responses than negative responses to PRCI items, demonstrating their use of positive reappraisal coping. Thematic analyses showed that positive responses focused on factors such as their loved one’s personality and achievements, the contributions caregivers had made to this person’s progress, the support received, and their own personal development. Positive reappraisal coping was associated with greater resilience, more positive and less negative emotions, and a lesser sense of caregiver burden. CONCLUSION: This modelling study suggests that positive reappraisal strategies were used by caregivers and associated with greater psychological wellbeing. The findings will inform the development of a self-help PRCI for the caregivers of those with ASD. Future studies will systematically evaluate that PRCI to determine the nature of intervention effects and mediators and moderators of effects.

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7. Lau D, Tybor DJ, Perrin E, Sakai C. Time to Diagnosis of Autism Spectrum Disorders in Children with Coexisting Developmental Behavioral Disorders. Journal of developmental and behavioral pediatrics : JDBP. 2021.

OBJECTIVE: Our study evaluates whether having an alternate developmental behavioral disorder (DBDs) diagnosis before diagnosis of autism spectrum disorders (ASD) is associated with delays in diagnosis in a nationally representative sample. METHODS: Data were obtained from the 2011 National Survey of Pathways to Diagnosis and Services, a survey of children aged 6 to 17 years with ASD, developmental delay, or intellectual disability. A total of 1049 children met inclusion criteria for this study. Of these, 799 children were identified as « late » diagnosis if >12 months elapsed between the age parents reported concerns to a provider and age of ASD diagnosis and 250 as « timely » diagnosis if the gap was ≤12 months. Univariate and multivariate logistic regressions were used to look for association between having an alternate DBDs diagnosed before ASD and « timely » versus « late » ASD diagnosis. RESULTS: The mean time elapsed between the age parents reported concerns to a provider and age of ASD diagnosis was 51 months for children with an alternate DBDs diagnosis before receiving ASD diagnosis and 29 months for those diagnosed with alternate DBDs concurrently with ASD. Having alternate DBDs diagnosis before diagnosis with ASD was associated with « late » ASD diagnosis as follows: developmental delay (adjusted odds ratio [aOR,] 3.46; 95% confidence interval [CI], 1.86-6.42; p < 0.001), intellectual disability (aOR, 9.75; 95% CI, 3.0-31.60; p = 0.04), attention-deficit disorder (aOR, 11.07; 95% CI, 3.43-35.71; p < 0.001), depression (aOR, 8.05; 95% CI, 1.07-60.03; p = 0.0495), and behavioral conduct disorder (aOR, 9.9; 95% CI, 3.55-27.62; p < 0.001). CONCLUSION: These findings highlight the importance of research to improve the early diagnosis of ASD even in the presence of coexisting developmental behavioral disorders.

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8. Lu S, Hernan R, Marcogliese PC, Huang Y, Gertler TS, Akcaboy M, Liu S, Chung HL, Pan X, Sun X, Oguz MM, Oztoprak U, de Baaij JHF, Ivanisevic J, McGinnis E, Guillen Sacoto MJ, Chung WK, Bellen HJ. Loss-of-function variants in TIAM1 are associated with developmental delay, intellectual disability, and seizures. American journal of human genetics. 2022; 109(4): 571-86.

TIAM Rac1-associated GEF 1 (TIAM1) regulates RAC1 signaling pathways that affect the control of neuronal morphogenesis and neurite outgrowth by modulating the actin cytoskeletal network. To date, TIAM1 has not been associated with a Mendelian disorder. Here, we describe five individuals with bi-allelic TIAM1 missense variants who have developmental delay, intellectual disability, speech delay, and seizures. Bioinformatic analyses demonstrate that these variants are rare and likely pathogenic. We found that the Drosophila ortholog of TIAM1, still life (sif), is expressed in larval and adult central nervous system (CNS) and is mainly expressed in a subset of neurons, but not in glia. Loss of sif reduces the survival rate, and the surviving adults exhibit climbing defects, are prone to severe seizures, and have a short lifespan. The TIAM1 reference (Ref) cDNA partially rescues the sif loss-of-function (LoF) phenotypes. We also assessed the function associated with three TIAM1 variants carried by two of the probands and compared them to the TIAM1 Ref cDNA function in vivo. TIAM1 p.Arg23Cys has reduced rescue ability when compared to TIAM1 Ref, suggesting that it is a partial LoF variant. In ectopic expression studies, both wild-type sif and TIAM1 Ref are toxic, whereas the three variants (p.Leu862Phe, p.Arg23Cys, and p.Gly328Val) show reduced toxicity, suggesting that they are partial LoF variants. In summary, we provide evidence that sif is important for appropriate neural function and that TIAM1 variants observed in the probands are disruptive, thus implicating loss of TIAM1 in neurological phenotypes in humans.

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9. Mehta SQ, Behl S, Day PL, Delgado AM, Larson NB, Stromback LR, Huebner AR, DeGrado TR, Davis JM, Jannetto PJ, Howie F, Pandey MK. Corrigendum: Evaluation of Zn, Cu, and Se Levels in the North American Autism Spectrum Disorder Population. Frontiers in molecular neuroscience. 2022; 15: 831799.

[This corrects the article DOI: 10.3389/fnmol.2021.665686.].

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10. Ouyang M, Peng Y, Sotardi S, Hu D, Zhu T, Cheng H, Huang H. Flattened Structural Network Changes and Association of Hyperconnectivity With Symptom Severity in 2-7-Year-Old Children With Autism. Frontiers in neuroscience. 2021; 15: 757838.

Understanding the brain differences present at the earliest possible diagnostic age for autism spectrum disorder (ASD) is crucial for delineating the underlying neuropathology of the disorder. However, knowledge of brain structural network changes in the early important developmental period between 2 and 7 years of age is limited in children with ASD. In this study, we aimed to fill the knowledge gap by characterizing age-related brain structural network changes in ASD from 2 to 7 years of age, and identify sensitive network-based imaging biomarkers that are significantly correlated with the symptom severity. Diffusion MRI was acquired in 30 children with ASD and 21 typically developmental (TD) children. With diffusion MRI and quantified clinical assessment, we conducted network-based analysis and correlation between graph-theory-based measurements and symptom severity. Significant age-by-group interaction was found in global network measures and nodal efficiencies during the developmental period of 2-7 years old. Compared with significant age-related growth of the structural network in TD, relatively flattened maturational trends were observed in ASD. Hyper-connectivity in the structural network with higher global efficiency, global network strength, and nodal efficiency were observed in children with ASD. Network edge strength in ASD also demonstrated hyper-connectivity in widespread anatomical connections, including those in default-mode, frontoparietal, and sensorimotor networks. Importantly, identified higher nodal efficiencies and higher network edge strengths were significantly correlated with symptom severity in ASD. Collectively, structural networks in ASD during this early developmental period of 2-7 years of age are characterized by hyper-connectivity and slower maturation, with aberrant hyper-connectivity significantly correlated with symptom severity. These aberrant network measures may serve as imaging biomarkers for ASD from 2 to 7 years of age.

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11. Smith-Young J, Chafe R, Audas R, Gustafson DL. « I Know How to Advocate »: Parents’ Experiences in Advocating for Children and Youth Diagnosed With Autism Spectrum Disorder. Health services insights. 2022; 15: 11786329221078803.

BACKGROUND: Parental advocacy is a dynamic process that changes depending on the circumstances and needs of the child and parent. Communication deficits related to an Autism Spectrum Disorder (ASD) diagnosis often necessitate parental advocacy. This study describes how parents and caregivers of children and youth diagnosed with ASD engage in parental advocacy, the challenges they encounter and the advocacy skills they develop. METHOD: We used descriptive exploratory methodology informed by reflexive thematic analysis. The aim of the study was to explore advocacy in parents and caregivers of children and youth diagnosed with ASD. RESULTS: We conducted in-depth, semi-structured interviews with 15 parents of children and youth with an ASD diagnosis living in 4 provinces of Atlantic Canada. The pathway in parents’ advocacy journey included: (1) Expressing concerns; (2) Seeking help, assessment, and diagnosis; (3) Acquiring services; (4) Removing barriers; and (5) Developing advocacy skills. CONCLUSIONS: Our findings illustrate the process of parental advocacy, skill development, and the barriers parents encounter in advocating for their children with ASD. Future research might explore how health professionals can support parents’ advocacy efforts.

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12. Tian XJ, Wang XH, Ding CH, Fang F, Dai LF, Deng J, Wang HM. [Clinical characteristics and gene analysis of GRIN2B gene related neurological developmental disorders in children]. Zhonghua er ke za zhi = Chinese journal of pediatrics. 2022; 60(3): 232-6.

Objective: To analyse the clinical and gene characteristics of GRIN2B gene related neurological developmental disorders in children. Methods: The data of 11 children with GRIN2B gene related neurological developmental disorders from November 2016 to February 2021 were collected from Department of Neurology, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health and analyzed retrospectively. The clinical features, electroencephalogram (EEG), brain imaging and gene testing results were summarized. Results: Among 11 children 6 were boys and 5 were girls. Two of them were diagnosed with developmental and epileptic encephalopathy. The ages of seizures onset were 3 months and 9 months, respectively. Seizure types included epileptic spasm, tonic seizures, tonic spasm and focal seizures, and 1 patient also had startle attacks. EEG showed interictal multifocal epileptiform discharges. Both of them were added with more than 2 anti-seizure drugs, which were partially effective but could not control. They had moderate to severe mental and motor retardation. The phenotype of 9 cases was developmental delay or intellectual disability without epilepsy, age of visit 1 year to 6 year and 4 months of whom 5 cases had severe developmental delay, 2 cases had moderate and 2 cases had mild delay. Multi-focal epileptiform discharges were observed in 3 cases, no abnormality was found in 3 cases, and the remaining 3 cases did not undergo EEG examination. Ten cases underwent brain magnetic resonance imaging (MRI), 6 cases had nonspecific abnormalities and 4 cases were normal. Nine GRIN2B gene heterozygous variants were detected by next-generation sequencing in these 11 patients, 8 cases had missense variants and 1 case had nonsense variant, all of which were de novo and 3 of which were novel. Missense variants were found in 10 patients, among them 6 cases had severe developmental delay, 3 cases had moderate and 1 case had mild developmental delay, but the patient with nonsense variant showed mild developmental delay without epilepsy. Conclusions: The phenotypes of GRIN2B gene related neurological developmental disorders in children are diverse, ranging from mild intellectual impairment without epilepsy to severe epileptic encephalopathy. Patients with epileptic phenotype usually have an onset age of infancy, and spasm and focal seizures are the most common seizure types. And the epiletice episodes are refractory. Most of the patients with missense variants had severe developmental delay.

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13. Zeidan J, Fombonne E, Scorah J, Ibrahim A, Durkin MS, Saxena S, Yusuf A, Shih A, Elsabbagh M. Global prevalence of autism: A systematic review update. Autism research : official journal of the International Society for Autism Research. 2022.

Prevalence estimates of autism are essential for informing public policy, raising awareness, and developing research priorities. Using a systematic review, we synthesized estimates of the prevalence of autism worldwide. We examined factors accounting for variability in estimates and critically reviewed evidence relevant for hypotheses about biological or social determinants (viz., biological sex, sociodemographic status, ethnicity/race, and nativity) potentially modifying prevalence estimates of autism. We performed the search in November 2021 within Medline for studies estimating autism prevalence, published since our last systematic review in 2012. Data were extracted by two independent researchers. Since 2012, 99 estimates from 71 studies were published indicating a global autism prevalence that ranges within and across regions, with a median prevalence of 100/10,000 (range: 1.09/10,000 to 436.0/10,000). The median male-to-female ratio was 4.2. The median percentage of autism cases with co-occurring intellectual disability was 33.0%. Estimates varied, likely reflecting complex and dynamic interactions between patterns of community awareness, service capacity, help seeking, and sociodemographic factors. A limitation of this review is that synthesizing methodological features precludes a quality appraisal of studies. Our findings reveal an increase in measured autism prevalence globally, reflecting the combined effects of multiple factors including the increase in community awareness and public health response globally, progress in case identification and definition, and an increase in community capacity. Hypotheses linking factors that increase the likelihood of developing autism with variations in prevalence will require research with large, representative samples and comparable autism diagnostic criteria and case-finding methods in diverse world regions over time. LAY SUMMARY: We reviewed studies of the prevalence of autism worldwide, considering the impact of geographic, ethnic, and socioeconomic factors on prevalence estimates. Approximately 1/100 children are diagnosed with autism spectrum disorder around the world. Prevalence estimates increased over time and varied greatly within and across sociodemographic groups. These findings reflect changes in the definition of autism and differences in the methodology and contexts of prevalence studies.

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