1. Baiano C, Raimo G, Zappullo I, Cecere R, Rauso B, Positano M, Conson M. Anxiety Sensitivity Domains are Differently Affected by Social and Non-social Autistic Traits. Journal of autism and developmental disorders. 2021.

Anxiety sensitivity (AS) is implicated in the development and maintenance of several psychopathological conditions. Non-clinical individuals with high autistic traits may develop anxiety disorders and depressive symptoms. Here, we investigated the relationships of autistic traits with AS dimensions and depression, considering sex. We referred to the two-factor model of the autism spectrum quotient to distinguish social and non-social autistic traits and assessed 345 university students on AS and depression scales. Results showed that only social autistic traits predicted general AS and anxiety-related concerns regarding social and cognitive domains. The present results emphasize the need of assessing multiple domains of anxiety in individuals on the autistic spectrum, differentiating social and non-social traits.

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2. Bates M. Targeting the Gut to Treat the Brain. IEEE pulse. 2021; 12(4): 2-5.

Only ten years ago, the idea that bacteria in your gut could affect your brain and behavior was seen as a fringe theory. But today, it is well-established that the trillions of microbes in the gastrointestinal tract-collectively known as the gut microbiome-profoundly influence the brain. Now, researchers are working to harness the power of the gut microbiome to develop new treatments for brain disorders.

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3. Cano S, González CS, Gil-Iranzo RM, Albiol-Pérez S. Affective Communication for Socially Assistive Robots (SARs) for Children with Autism Spectrum Disorder: A Systematic Review. Sensors (Basel, Switzerland). 2021; 21(15).

Research on affective communication for socially assistive robots has been conducted to enable physical robots to perceive, express, and respond emotionally. However, the use of affective computing in social robots has been limited, especially when social robots are designed for children, and especially those with autism spectrum disorder (ASD). Social robots are based on cognitive-affective models, which allow them to communicate with people following social behaviors and rules. However, interactions between a child and a robot may change or be different compared to those with an adult or when the child has an emotional deficit. In this study, we systematically reviewed studies related to computational models of emotions for children with ASD. We used the Scopus, WoS, Springer, and IEEE-Xplore databases to answer different research questions related to the definition, interaction, and design of computational models supported by theoretical psychology approaches from 1997 to 2021. Our review found 46 articles; not all the studies considered children or those with ASD.

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4. Clausi S, Olivito G, Siciliano L, Lupo M, Laghi F, Baiocco R, Leggio M. The cerebellum is linked to theory of mind alterations in autism. A direct clinical and MRI comparison between individuals with autism and cerebellar neurodegenerative pathologies. Autism research : official journal of the International Society for Autism Research. 2021; 14(11): 2300-13.

In recent years, structural and functional alterations in the cerebellum have been reported in autism spectrum disorder (ASD). Intriguingly, recent studies demonstrated that the social behavioral profile of individuals with cerebellar pathologies is characterized by a theory of mind (ToM) impairment, one of the main behavioral hallmarks of ASD. The aim of the present study was to compare ToM abilities and underlying cerebello-cortical structural patterns between ASD individuals and individuals with cerebellar atrophy to further specify the cerebellar role in mentalizing alterations in ASD. Twenty-one adults with ASD without language and intellectual impairments (based on DSM-5), 36 individuals affected by degenerative cerebellar damage (CB), and 67 healthy participants were enrolled in the study. ToM abilities were assessed using the reading the mind in the eyes test and the faux pas test. One-way ANCOVA was conducted to compare the performances between the two cohorts. Three-dimensional T1-weighted magnetic resonance scans were collected, and a voxel-based morphometry analysis was performed to characterize the brain structural alterations in the two cohorts. ASD and CB participants had comparable ToM performance with similar difficulties in both the tests. CB and ASD participants showed an overlapping pattern of gray matter (GM) reduction in a specific cerebellar portion (Crus-II). Our study provides the first direct comparison of ToM abilities between ASD and CB individuals, boosting the idea that specific cerebellar structural alterations impact the mentalizing process. The present findings open a new perspective for considering the cerebellum as a potential target for treatment implementation. The present work will critically advance current knowledge about the cerebellar role in ToM alterations of ASD, in particular, elucidating the presence of common cerebellar structural abnormalities in ASD and cerebellar individuals that may underlie specific mentalizing alterations. These findings may pave the way for alternative therapeutic indications, such as cerebellar neuromodulation, with a strong clinical impact. LAY SUMMARY: The present work will critically advance current knowledge about the cerebellar role in theory of mind alterations of autism spectrum disorder (ASD), in particular, elucidating the presence of common cerebellar structural abnormalities in ASD and cerebellar individuals that may underlie specific mentalizing alterations. These findings may pave the way for alternative therapeutic indications, such as cerebellar neuromodulation, with a strong clinical impact.

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5. Harvery M, Froude EH, Foley KR, Trollor JN, Arnold SRC. Employment profiles of autistic adults in Australia. Autism research : official journal of the International Society for Autism Research. 2021; 14(10): 2061-77.

Autistic adults experience a high number of job changes, reduced working hours, minimal workplace supports, and overrepresentation in entry-level and low paid positions. This study adds to the existing evidence base to guide clinical decisions and interventions for this population. This study utilized baseline data collected between 2015 and 2017 from the Autism CRC’s Australian Longitudinal Study of Autism in Adulthood. The aim was to describe the employment profiles and explore factors related to employment for Australian autistic adults aged 25 and older (N = 149). Comparisons between participants and the Australian workforce were made using Australian Bureau of Statistics (ABS) data. Two logistic regression models were conducted to explore the association between underemployment and underutilisation with personal and environmental factors. In comparison to the Australian workforce, autistic adults were more likely to work part-time, work reduced hours and be employed at skill levels lower than their qualifications warranted. Logistic regressions reported that more autistic traits, more social supports and having workplace adjustments implemented were significantly associated with a higher odds of autistic adults being appropriately employed and/or utilized in the workforce. Results suggest that interventions implementing appropriate workplace adjustments, a supportive workplace environment, and adequate social supports may improve employment outcomes for autistic adults. All employees may benefit from workplace resources targeted toward fostering an inclusive workplace environment. LAY SUMMARY: This study aimed to describe the employment profiles and explore factors related to employment for Australian autistic adults. We compared this with the Australian workforce using data from the Australian Bureau of Statistics. Autistic adults with more autistic traits and more social and workplace supports were more likely to be employed and have jobs that were better suited to them. Autistic adults might have better employment outcomes if they have the appropriate workplace adjustments, a supportive workplace and adequate social supports.

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6. Johnson M, Åsberg Johnels J, Östlund S, Cedergren K, Omanovic Z, Hjalmarsson K, Jakobsson K, Högstedt J, Billstedt E. Long-term medication for ADHD and development of cognitive functions in children and adolescents. Journal of psychiatric research. 2021; 142: 204-9.

OBJECTIVE: Long-term effects of ADHD medication on cognitive functions are not well known. This study investigates development of cognitive functions and ADHD symptoms on well-controlled medication for 1 year in children and adolescents. STUDY DESIGN: This study is part of an ongoing open uncontrolled trial of long-term medication for ADHD in children and adolescents aged 6-18 years with any form of ADHD, and frequently comorbid autism spectrum disorder (ASD, 29%) or autistic traits (24%). Other comorbidities were oppositional defiant disorder, dyslexia/language disorder, borderline intellectual functioning, developmental coordination disorder. This analysis includes 87 participants (61 boys, 26 girls) who completed Wechsler tests at baseline and after 12 months. ADHD symptoms were investigator-rated on the ADHD Rating Scale-IV at the same time points. RESULTS: The whole group of children and adolescents showed significant improvements in Wechsler Full Scale IQ (FSIQ, mean at baseline 92.6, at 12 months 97.95), and on the Index Scales Verbal Comprehension, Working Memory and Processing Speed, after one year of well-controlled ADHD medication. Comorbid dyslexia/language impairment predicted a larger rise in FSIQ, but not gender, ADHD presentation or comorbid ASD. Robust improvements in ADHD symptoms were observed (mean ADHD-Rating Scale score at baseline 34.6, and at 12 months 18.3). CONCLUSIONS: Cognitive test scores and ADHD symptoms were improved on well-controlled medication for 1 year in children and adolescents with ADHD, autism and other comorbidities. The main study limitation is the open uncontrolled trial design.

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7. Lavenne-Collot N, Jallot N, Maguet J, Degrez C, Botbol M, Grandgeorge M. Early Motor Skills in Children With Autism Spectrum Disorders Are Marked by Less Frequent Hand and Knees Crawling. Perceptual and motor skills. 2021; 128(5): 2148-65.

Our aim in this study was to affirm or negate (quantitatively) our subjective impression of altered hands and knees crawling (H&K crawling) among children with Autism Spectrum Disorder (ASD). Through parental questionnaires and children’s health records, we retrospectively compared early motor skills, including the frequency of H&K crawling in 79 children with Autistic Disorder or Asperger Syndrome versus 100 children with typical development (TD). We found H&K crawling to be significantly less frequent among children with ASD (44.2%) versus children with TD (69%). Children with ASD also showed a decreased frequency of acquiring a seating position without help and a later mean walking age compared to the TD children. These data suggest that early motor development delays may be a useful sign for detecting ASD at early ages.

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8. Li L, Zuo Y, Chen Y. Relationship between local gyrification index and age, intelligence quotient, symptom severity with Autism Spectrum Disorder: A large-scale MRI study. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia. 2021; 91: 193-9.

Gyrification is one of the most important characteristics in the cerebral cortex and the local gyrification index (LGI) was used to quantify the regional changes in gyrification. The aim of this study was to evaluate LGI alterations in autism spectrum disorder (ASD) individuals in comparison with typically developing (TD) controls and the association of the LGI with age, intelligence quotient (IQ), and symptom severity in a large multicenter dataset. Structural MRI datasets selected from Autism Brain Imaging Data Exchange I and II (ABIDE I and ABIDE II) repository (606 ASD individuals and 765 age-matched TD controls) were used to calculate LGI values. The correlation between the LGI and age, IQ, and other clinical measurements were assessed. No differences in LGI were found between ASD individuals and TD controls after FDR multiple comparison correction, however, LGI decreased with age in both ASD and TD groups. In the TD group, a significant positive correlation was found between the LGI and full IQ (FIQ) in the parahippocampal gyrus, parsopercularis of left hemisphere and entorhinal cortex, parahippocampal, superior temporal gyrus of right hemisphere, but was not observed in the ASD group. Furthermore, a positive correlation between the LGI and Autism Diagnostic Interview-Revised (ADI-R) Repetitive and Restrictive Behaviors (RRB) score was found in the left inferior parietal lobule, lateral occipital cortex, superior frontal gyrus and right superior frontal gyrus, inferior temporal gyrus. In summary, these results demonstrate that the ASD is a truly heterogeneous neurodevelopmental disorder. Future investigations are required that group ASD patients into more homogeneous subtypes.

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9. Liu H, Liu DT, Lan S, Yang Y, Huang J, Huang J, Fang L. ASH1L mutation caused seizures and intellectual disability in twin sisters. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia. 2021; 91: 69-74.

ASH1L mutations have been identified with variable phenotypes, including intellectual disability, autism spectrum disorder (ASD), and multiple congenital anomalies (MCA). However, the mechanisms underlying this phenotypic variation remain unknown. Here, we present twin sisters exhibiting mild intellectual disability and seizures. Whole-exome sequencing of the family revealed a novel de novo heterozygous sequence variant, NM_018489.2: c.2678dup (p.Lys894*) in exon 3 of ASH1L which was estimated to be pathogenic. Furthermore, we reviewed previously reported ASH1L mutations in order to evaluate genotype-phenotype correlations for ASH1L variants. We found that patients with missense mutations in ASH1L appeared to present with more severe phenotypes and a higher likelihood of ASD than those with truncating mutations. The relationship between phenotype and genotype reported across several patients may help to explain the mechanisms underlying the phenotypic variation commonly observed between ASH1L mutations.

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10. Masi A, Dissanayake C, Alach T, Cameron K, Fordyce K, Frost G, Grove R, Heussler H, Silove N, Sulek R, Tucker M, Williams K, Eapen V. Clinical outcomes and associated predictors of early intervention in autism spectrum disorder: a study protocol. BMJ open. 2021; 11(8): e047290.

INTRODUCTION: Research highlights the importance of early intervention for children with autism spectrum disorder with better outcomes associated with earlier access to early intensive intervention (EII) programmes. However, there is significant variability in response to EII despite children receiving the same programmes. METHODS AND ANALYSIS: A prospective, multisite cohort study using a pre-post design assesses the predictors of early intervention outcomes for children who receive EII through six early intervention services (Autism Specific Early Learning and Care Centres, ASELCCs) across Australia. Child and family characteristics at entry to and exit from ASELCCs are ascertained using measures of autism symptoms (Autism Diagnostic Observation Schedule-2; Social Communication Questionnaire); cognitive, language and developmental skills (Mullen Scale of Early Learning); adaptive function (Vineland Adaptive Behaviour Scale-second Edition); behaviours (Child Behaviour Checklist-1.5 to 5 years; Restricted Repetitive Behaviour Scale); parental stress (Parent Stress Index-4 Short Form); quality of life (Quality of Life in Autism Scale) and a semistructured family history questionnaire for sociodemographic, family and psychosocial characteristics. Characteristics at entry are used as predictors of outcome at exit following EII approximately 12 months later. The change in score from baseline to exit will be the primary outcome of interest. The mediating role of family and psychosocial factors will also be considered. ETHICS APPROVAL: University of New South Wales Human Research Ethics Committee (HC14267). DISSEMINATION OF RESULTS: Findings will be published in peer-reviewed journals and presented at conferences. A report summarising data and the interpretation of data will be published.

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11. Provenzi L, Grumi S, Rinaldi E, Giusti L. The porridge-like framework: A multidimensional guidance to support parents of children with developmental disabilities. Research in developmental disabilities. 2021; 117: 104048.

Parents of children with developmental disabilities face many daily challenges that can lead to emotional and affective problems, difficulties in caregiving, and partial mental representations about themselves and their children. The multi-faceted nature of these parents’ needs requires a multi-component approach that should include the analysis of priority support goals and the planning of tailored therapeutic actions. Despite different types of validated interventions are available, the choice of the most appropriate strategy to pursue a family-centered approach to support parents of infants with developmental disabilities is not obvious. In this scenario, we propose a multi-dimensional model, the porridge-like framework of parenting. It considers three interrelated domains in parents’ experience – affective (A), behavioral (B), and cognitive (C) aspects – that are intertwined with the specific degree of the child’s impairment (D). This ABCD model may provide professionals with pragmatically valid guidance to plan and deliver family-centered healthcare interventions. By covering the multi-dimensional nature of parenting challenges, it provides clinicians with conceptual categories to recognize the specific needs and to choose the most suitable therapeutic action to address them. In addition, it aims to promote an ethical approach to family-centered rehabilitation for children with developmental disabilities, maximizing the potentials of a collaborative assessment approach.

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12. Stolar O, Zachor DA, Ben-Itzchak E. Food selectivity is associated with more severe autism symptoms in toddlers with autism spectrum disorder. Acta paediatrica (Oslo, Norway : 1992). 2021; 110(12): 3305-7.

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13. Stolz JR, Foote KM, Veenstra-Knol HE, Pfundt R, Ten Broeke SW, de Leeuw N, Roht L, Pajusalu S, Part R, Rebane I, Õunap K, Stark Z, Kirk EP, Lawson JA, Lunke S, Christodoulou J, Louie RJ, Rogers RC, Davis JM, Innes AM, Wei XC, Keren B, Mignot C, Lebel RR, Sperber SM, Sakonju A, Dosa N, Barge-Schaapveld D, Peeters-Scholte C, Ruivenkamp CAL, van Bon BW, Kennedy J, Low KJ, Ellard S, Pang L, Junewick JJ, Mark PR, Carvill GL, Swanson GT. Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders. American journal of human genetics. 2021; 108(9): 1692-709.

Kainate receptors (KARs) are glutamate-gated cation channels with diverse roles in the central nervous system. Bi-allelic loss of function of the KAR-encoding gene GRIK2 causes a nonsyndromic neurodevelopmental disorder (NDD) with intellectual disability and developmental delay as core features. The extent to which mono-allelic variants in GRIK2 also underlie NDDs is less understood because only a single individual has been reported previously. Here, we describe an additional eleven individuals with heterozygous de novo variants in GRIK2 causative for neurodevelopmental deficits that include intellectual disability. Five children harbored recurrent de novo variants (three encoding p.Thr660Lys and two p.Thr660Arg), and four children and one adult were homozygous for a previously reported variant (c.1969G>A [p.Ala657Thr]). Individuals with shared variants had some overlapping behavioral and neurological dysfunction, suggesting that the GRIK2 variants are likely pathogenic. Analogous mutations introduced into recombinant GluK2 KAR subunits at sites within the M3 transmembrane domain (encoding p.Ala657Thr, p.Thr660Lys, and p.Thr660Arg) and the M3-S2 linker domain (encoding p.Ile668Thr) had complex effects on functional properties and membrane localization of homomeric and heteromeric KARs. Both p.Thr660Lys and p.Thr660Arg mutant KARs exhibited markedly slowed gating kinetics, similar to p.Ala657Thr-containing receptors. Moreover, we observed emerging genotype-phenotype correlations, including the presence of severe epilepsy in individuals with the p.Thr660Lys variant and hypomyelination in individuals with either the p.Thr660Lys or p.Thr660Arg variant. Collectively, these results demonstrate that human GRIK2 variants predicted to alter channel function are causative for early childhood development disorders and further emphasize the importance of clarifying the role of KARs in early nervous system development.

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14. Walter H, Daniels A, Wellan SA. [Positive cognitive neuroscience : Positive valence systems of the Research Domain Criteria initiative]. Der Nervenarzt. 2021; 92(9): 878-91.

In this paper, the domain positive valence systems (PVS) of the Research Domain Criteria (RDoC) matrix and its subconstructs are presented and discussed. The PVS basically reflect different forms and aspects of reward processing. These have been investigated in psychiatry in the context of addiction, schizophrenia and depression for decades; the latter are therefore not the topic of this paper. This article presents the heuristic value of the RDoC system in understanding other disorders and constructs, namely the transdiagnostic symptom of anhedonia, autism spectrum disorder and eating disorders. In addition, it outlines how the PVS domain has also enriched the clinical perspective of traditional psychopathology and stimulated the development of new behavioral measurement instruments. Finally, the limitations and potential future developments of the framework are discussed.

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15. Yamauchi T, Makinodan M, Toritsuka M, Okumura K, Kayashima Y, Ishida R, Kishimoto N, Takahashi M, Komori T, Yamaguchi Y, Takada R, Yamamuro K, Kimoto S, Yasuda Y, Hashimoto R, Kishimoto T. Tumor necrosis factor-α expression aberration of M1/M2 macrophages in adult high-functioning autism spectrum disorder. Autism research : official journal of the International Society for Autism Research. 2021; 14(11): 2330-41.

The etiology of autism spectrum disorder (ASD) is complex, and its pathobiology is characterized by enhanced inflammatory activities; however, the precise pathobiology and underlying causes of ASD remain unclear. This study was performed to identify inflammatory indicators useful for diagnosing ASD. The mRNA expression of cytokines, including tumor necrosis factor-α (TNF-α), was measured in cultured M1 and M2 macrophages from patients with ASD (n = 29) and typically developed (TD) individuals (n = 30). Additionally, TNF-α expression in the monocytes of patients with ASD (n = 7), showing aberrations in TNF-α expression in M1/M2 macrophages and TD individuals (n = 6), was measured. TNF-α expression in M1 macrophages and the TNF-α expression ratio in M1/M2 macrophages were markedly higher in patients with ASD than in TD individuals; however, this increase was not observed in M2 macrophages (M1: sensitivity = 34.5%, specificity = 96.7%, area under the curve = 0.74, positive likelihood ratio = 10.34; ratio of M1/M2: sensitivity = 55.2%, specificity = 96.7%, area under the curve = 0.79, positive likelihood ratio = 16.55). Additionally, TNF-α expression in monocytes did not significantly differ between patients with ASD and TD individuals. In conclusion, further studies on TNF-α expression in cultured macrophages may improve the understanding of ASD pathobiology. LAY SUMMARY: TNF-α expression in differentiated M1 macrophages and TNF-α expression ratio in differentiated M1/M2 macrophages were markedly higher in patients with ASD than in TD individuals, while no difference in TNF-α expression was found in pre-differentiation cells such as monocytes. These measurements allow elucidation of the novel pathobiology of ASD and can contribute to biomarker implementation for the diagnosis of adult high-functioning ASD.

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16. Yu Y, Zhao F. Microbiota-gut-brain axis in autism spectrum disorder. Journal of genetics and genomics = Yi chuan xue bao. 2021; 48(9): 755-62.

Extensive studies, largely during the past decade, identify the dynamic and bidirectional interaction between the bacteria resident in the intestines and their host brain along the « microbiota-gut-brain axis ». This interaction modulates the development and function of the central nervous system and is implicated in neurological disorders. As a neurodevelopmental disorder, autism spectrum disorder (ASD) is considered a historically defect in the brain. With accumulating evidence showing how the microorganisms modulate neural activities, more and more research is focusing on the role of the gut microbiota in mitigating ASD symptoms and the underlying mechanisms. In this review, we describe the intricate and crucial pathways via which the gut microbiota communicates with the brain, the microbiota-gut-brain axis, and summarize the specific pathways that mediate the crosstalk of the gut microbiota to the brain in ASD.

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