1. Ahmed NY, Knowles R, Liu L, Yan Y, Li X, Schumann U, Wang Y, Sontani Y, Reynolds N, Natoli R, Wen J, Del Pino I, Mi D, Dehorter N. Developmental deficits of MGE-derived interneurons in the Cntnap2 knockout mouse model of autism spectrum disorder. Front Cell Dev Biol;2023;11:1112062.

Interneurons are fundamental cells for maintaining the excitation-inhibition balance in the brain in health and disease. While interneurons have been shown to play a key role in the pathophysiology of autism spectrum disorder (ASD) in adult mice, little is known about how their maturation is altered in the developing striatum in ASD. Here, we aimed to track striatal developing interneurons and elucidate the molecular and physiological alterations in the Cntnap2 knockout mouse model. Using Stereo-seq and single-cell RNA sequencing data, we first characterized the pattern of expression of Cntnap2 in the adult brain and at embryonic stages in the medial ganglionic eminence (MGE), a transitory structure producing most cortical and striatal interneurons. We found that Cntnap2 is enriched in the striatum, compared to the cortex, particularly in the developing striatal cholinergic interneurons. We then revealed enhanced MGE-derived cell proliferation, followed by increased cell loss during the canonical window of developmental cell death in the Cntnap2 knockout mice. We uncovered specific cellular and molecular alterations in the developing Lhx6-expressing cholinergic interneurons of the striatum, which impacts interneuron firing properties during the first postnatal week. Overall, our work unveils some of the mechanisms underlying the shift in the developmental trajectory of striatal interneurons which greatly contribute to the ASD pathogenesis.

Lien vers le texte intégral (Open Access ou abonnement)

2. AlAlmaei Asiri WM, Shati AA, Al-Qahtani SM, Al-Qahtani YA, Aldarami MS, Alamri FD, Alshahrani HS, Esam Mahmood S. Assessment of Parental Knowledge, Awareness, and Perception About Autism Spectrum Disorders in Aseer Region, Southwestern Saudi Arabia. Int J Gen Med;2023;16:557-564.

BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental condition that affects young children in social relatedness and communication besides other characteristics. A community’s awareness and early intervention services in diagnosing and treating autistic children are essential for preventing the expected complications, eg language delay, social interaction, and intellectual ability. AIM: To assess the parent’s knowledge and perceptions regarding autism and its associated clinical features and effects. METHODOLOGY: A cross-sectional study was conducted targeting all available parents aged 18 years or more living in Aseer region. Data were collected using a self-reported questionnaire from randomly selected parents who attended outpatient clinics at Abha Maternity and Children Hospital and Aseer Central Hospital. Parents’ knowledge regarding autism was assessed covering general knowledge, clinical features, social effects, consequences, and curability. RESULTS: A total of 477 parents participated. Parents’ ages ranged from 18 to 85 years. 261 (54.7%) parents were male and 216 (45.3%) were females. Nearly 65.6% of parents were university graduates and 28.3% had a secondary level of education. About 50.9% of the parents know that genetics play a major role in causing autism, 69.6% think that most children with autism have special talents or abilities, 64.2% know that delayed language development is one of the main symptoms of autism, 61.2% also know that repetitive movements of the hands and head are a common symptom of autism. About 36.9% of parents think that diagnosing a child with autism will lead to discrimination against the child, 33.3% of parents think that autism is a rare condition in this country compared to the West. CONCLUSION: The study showed that parents had poor knowledge levels regarding autism and its related clinical features, especially male parents with low levels of education. On the other hand, their perception of the disease and its frequency in the study area was satisfactory.

Lien vers le texte intégral (Open Access ou abonnement)

3. Almandil NB, Alismail MA, Alsuwat HS, AlSulaiman A, AbdulAzeez S, Borgio JF. Exome-wide analysis identify multiple variations in olfactory receptor genes (OR12D2 and OR5V1) associated with autism spectrum disorder in Saudi females. Front Med (Lausanne);2023;10:1051039.

BACKGROUND: Autism Spectrum Disorder (ASD) is a multifactorial, neurodevelopmental disorder, characterized by deficits in communication, restricted and repetitive behaviors. ASD is highly heritable in Saudi Arabia; indecencies of affected individuals are increasing. OBJECTIVES: To identify the most significant genes and SNPs associated with the increased risk of ASD in Saudi females to give an insight for early diagnosis. METHODS: Pilot case-control study mostly emphasized on the significant SNPs and haplotypes contributing to Saudi females with ASD patients (n = 22) compared to controls (n = 51) without ASD. With the use of allelic association analysis tools, 243,345 SNPs were studied systematically and classified according to their significant association. The significant SNPs and their genes were selected for further investigation for mapping of ASD candidate causal variants and functional impact. RESULTS: In females, five risk SNPs at p ≤ 2.32 × 10(-05) was identified in association with autism. The most significant exonic variants at chromosome 6p22.1 with olfactory receptor genes (OR12D2 and OR5V1) clustered with high linkage disequilibrium through haplotyping analysis. Comparison between highly associated genes (56 genes) of male and female autistic patients with female autistic samples revealed that 39 genes are unique biomarkers for Saudi females with ASD. CONCLUSION: Multiple variations in olfactory receptor genes (OR5V1 and OR12D2) and single variations on SPHK1, PLCL2, AKAP9 and LOC107984893 genes are contributing to ASD in females of Arab origin. Accumulation of these multiple predisposed coding SNPs can increase the possibility of developing ASD in Saudi females.

Lien vers le texte intégral (Open Access ou abonnement)

4. Assuah FB, Emanuel B, Lacasse BM, Beggs J, Lou J, Motta FC, Nemzer LR, Worth R, Cravens GD. A Literature Review of Similarities Between and Among Patients With Autism Spectrum Disorder and Epilepsy. Cureus;2023 (Jan);15(1):e33946.

Autism spectrum disorder (ASD) has been shown to be associated with various other conditions, and most commonly, ASD has been demonstrated to be linked to epilepsy. ASD and epilepsy have been observed to exhibit high rates of comorbidity, even when compared to the co-occurrence of other disorders with similar pathologies. At present, nearly one-half of the individuals diagnosed with ASD also have been diagnosed with comorbid epilepsy. Research suggests that both conditions likely share similarities in their underlying disease pathophysiology, possibly associated with disturbances in the central nervous system (CNS), and may be linked to an imbalance between excitation and inhibition in the brain. Meanwhile, it remains unclear whether one condition is the consequence of the other, as the pathologies of both disorders are commonly linked to many different underlying signal transduction mechanisms. In this review, we aim to investigate the co-occurrence of ASD and epilepsy, with the intent of gaining insights into the similarities in pathophysiology that both conditions present with. Elucidating the underlying disease pathophysiology as a result of both disorders could lead to a better understanding of the underlying mechanism of disease activity that drives co-occurrence, as well as provide insight into the underlying mechanisms of each condition individually.

Lien vers le texte intégral (Open Access ou abonnement)

5. Bharat R, Uzaina, Yadav T, Niranjan S, Kurade P. mHealth Apps Delivering Early Intervention to Support Parents of Children With Autism Spectrum Disorder: A Scoping Review. Indian Pediatr;2023 (Feb 20)

CONTEXT: Early intervention, and parent-mediated intervention are effective in achieving early childhood development goals for children with autism spectrum disorder. There is a surge in mHealth technologies delivering such interventions. This review aims to explore the concept, context and methodology of implementation of such mHealth apps. EVIDENCE ACQUISITION: A search was conducted using NICE (National Institute of Clinical Excellence) healthcare database, including keyword ‘early intervention,’ ‘mHealth,’ ‘parent support,’ ‘apps,’ and ‘autism.’ The quantitative, qualitative, mixed-methods, case reports, grey literature, systematic reviews, clinical trials, and feasibility studies of children between 2 to 6 years with ASD were included from inception of database to December, 2021. Web/Internet-based or computer-dependent programs were excluded. The initial search yielded 3786 studies; 17 were finally included based on the inclusion and exclusion criteria. RESULTS: Studies on a total of 17 mhealth apps were reviewed. Nine apps, apart from TOBY (Therapy outcome by you), lacked a holistic approach and instead targeted a specific difficulty in autism. The provision of support to parents using apps was equally beneficial as in-person support, reduced costs, and improved outcomes in children. CONCLUSIONS: The review revealed limited evidence-based mHealth apps available currently in a community setting. This also underscores an opportunity for clinicians to re-direct parents towards evidence-based information and interventions.

Lien vers le texte intégral (Open Access ou abonnement)

6. Dai S, Lin J, Hou Y, Luo X, Shen Y, Ou J. Purine signaling pathway dysfunction in autism spectrum disorders: Evidence from multiple omics data. Front Mol Neurosci;2023;16:1089871.

INTRODUCTION: Previous studies have suggested that the dysregulation of purine metabolism may be associated with autism spectrum disorder (ASD). Here, we adopted metabolomics and transcriptomics to verify and explore the underlying molecular mechanism of purine metabolism dysfunction in ASD and identify potential biomarkers within the purine metabolism pathway. METHODS: Ultra-high-performance liquid chromatography-mass spectrometry was used to obtain the plasma metabolic profiles of 12 patients with ASD and 12 typically developing (TD) children. RNA sequencing was used to screen differentially expressed genes related to the purine metabolic pathway and purine receptor-coding genes in 24 children with ASD and 21 healthy controls. Finally, serum uric acid levels were compared in 80 patients with ASD and 174 TD children to validate the omics results. RESULTS: A total of 66 identified metabolites showed significant between-group differences. Network analysis showed that purine metabolism was the most strongly enriched. Uric acid was one of the most highlighted nodes within the network. The transcriptomic study revealed significant differential expression of three purine metabolism-related genes (adenosine deaminase, adenylosuccinate lyase, and bifunctional enzyme neoformans 5-aminoimidazole-4-carboxamide ribonucleotide (AICAR) transformylase/inosine monophosphate (IMP) cyclohydrolase) (p < 0.01) and five purinergic receptor genes (P2X7, P2Y2, P2Y6, P2Y8, and P2Y10) (p < 0.05). In the validation sample, there was a significant difference in serum uric acid levels between the two groups (p < 0.001), and the area under the curve for uric acid was 0.812 (sensitivity, 82.5%; specificity, 63.8%). DISCUSSION: Patients with ASD had dysfunctional purine metabolic pathways, and blood uric acid may be a potential biomarker for ASD.

Lien vers le texte intégral (Open Access ou abonnement)

7. Evans DW, Burack JA, Hodapp RM, Iarocci G. Ed Zigler’s legacy and the developmental approach to the study of persons with intellectual disability. J Intellect Disabil Res;2023 (Mar);67(3):183-185.

Lien vers le texte intégral (Open Access ou abonnement)

8. Hervás A. [Autism and depression: clinical presentation, evaluation and treatment]. Medicina (B Aires);2023 (Mar);83 Suppl 2:37-42.

the social and communication development and present a restricted and stereotyped pattern of interests and conduct. The depression associated to autism present infra detection and is associated to an increase of suicidal ideation, self-harming and suicide. Objective: to analyze the characteristics of autism and depression when coexist and based on the few available evidence, to make recommendations on evaluation and treatment. The existing evidence of autism associated with depression, its epidemiology, risk factors, evaluation instruments and treatment is presented. Conclusions: The autism associated to depression presents own characteristics, related to infra detection, infra treatment, worse response to treatment and evolution.

Lien vers le texte intégral (Open Access ou abonnement)

9. Inoue M, Inoue N, Nakatani K, Shikibu Y. Online Parent Training for Parents of Children with Autism Spectrum Disorders: Prototype Development of the On-Demand Type. Yonago Acta Med;2023 (Feb);66(1):95-103.

BACKGROUND: Parent training (PT) is a promising support for improving parents’ mental health, and behavior in children with autism spectrum disorders (ASD). In recent years, there has been an increase in online PT studies. We developed a prototype for the on-demand PT. In this study, we examined changes in the program implementation, accomplishment of homework, parents’ mental health, and behavior of children among parents of children with ASD. METHODS: This study participated two mothers of children with ASD. The first was the mother of a child aged three years and eight months with ASD and intellectual disability; the second was the mother of a child aged four years and 5 months who had a diagnosis of ASD. An on-demand PT consisting of six sessions was provided online. The program was structured so that the participants watched lecture videos for each session, answered a confirmation test, and submitted homework to advance to the next session. Feedback for the submitted homework and questions was provided via email by the researchers. RESULTS: Both participants watched the program on a schedule for all sessions and submitted all tests and homework assignments. The percentage of correct responses to the tests per session was 100% for both participants. Two of the four target behaviors of the children changed significantly. Pre- and post-questionnaires also showed improvements in the scores of parental depression and parenting stress, as well as overall behavior of the child. CONCLUSION: The program in this study was developed as a prototype for on-demand PT, and two case studies showed positive results. Although this program was on-demand, changes in parent and child behaviors were confirmed by the scale and actual behavior records. Further demonstration is needed to increase the number of cases and to compare the results between the groups.

Lien vers le texte intégral (Open Access ou abonnement)

10. Khoo CS, Ramachandram S. The Effect of Parent Training Programmes on Screen Time and Social Function in Children with Autism Spectrum Disorder. Malays J Med Sci;2022 (Dec);29(6):146-157.

BACKGROUND: Children with autism spectrum disorder (ASD) are susceptible to excessive electronic screen media (ESM) use. This study aimed to evaluate the effectiveness of a parent training programme in improving the screen time and social functioning of children with ASD. METHODS: This pre-/post-test quasi-experimental study involved parents by providing them with structured education based on the American Academy of Pediatrics (AAP)’ screen time recommendations. In total, 259 children with ASD aged 3 years old-12 years old were eligible. Of those children, 26 were excluded due to comorbidities or taking medications. Additionally, 28 parents participated. Children’s screen time were recorded, and social behaviour was scored using the Social Responsiveness Scale pre- and post-intervention. RESULTS: There were significant reductions in the average daily screen time of children with ASD after their parents attended the training programme (-51.25 min; 95% CI: -78.40, -24.10). In subgroups with reduced screen time, the treatment effect of the intervention was significant in improving the social responsiveness total score (-3.09; 95% CI: -5.96, -0.22), the social communication scale (-3.64; 95% CI: -5.91, -1.36) and the restricted interest and repetitive behaviour (RRB) scale (-5.27; 95% CI: -10.29, -0.25). CONCLUSION: Parental training is effective in reducing screen time and improving social functioning in children with ASD.

Lien vers le texte intégral (Open Access ou abonnement)

11. Klin A. Translating advances in developmental social neuroscience into greater access to early diagnosis in autism spectrum disorder. Medicina (B Aires);2023 (Mar);83 Suppl 2:32-36.

Early identification and diagnosis of autism spectrum disorder (ASD) is necessary to promote access to early treatment, a critical factor in optimizing children’s lifetime outcomes. And yet, diagnosis is often late, delaying interventions to a time in which symptoms have aggravated and communication skills already show impairing differences. This review illustrates progress in developmental social neuroscience that shows promise in generating novel tools for objective and cost-effective early diagnosis of ASD. We focus on research of social visual engagement, which is the way infants and toddlers look at and learn from their social environment. Moment-by-moment quantification of social visual engagement is yielding measures that are beginning to approximate best-practice procedures used by experienced clinicians in the assessment of young children. This progress and potential solutions have public health import ance because experienced clinicians are limited in number, and specialized clinical assessment services tend to be lengthy, costly, and plagued by extended wait time, all of which contributing to limited access, particularly in the case of low-resource families. The research reviewed here illustrates a wider effort to advance biomarker-based measurements intended to develop better and more efficient tools and procedures for screening, diagnosing and monitoring treatment response in children with ASD. The advent of such tools could increase access to early diagnostic services and promote efficiencies in early treatment delivery, with the ultimate goal of ensuring that children with ASD are afforded the services they need to thrive.

Lien vers le texte intégral (Open Access ou abonnement)

12. Koehler JC, Falter-Wagner CM. Digitally assisted diagnostics of autism spectrum disorder. Front Psychiatry;2023;14:1066284.

Digital technologies have the potential to support psychiatric diagnostics and, in particular, differential diagnostics of autism spectrum disorder in the near future, making clinical decisions more objective, reliable and evidence-based while reducing clinical resources. Multimodal automatized measurement of symptoms at cognitive, behavioral, and neuronal levels combined with artificial intelligence applications offer promising strides toward personalized prognostics and treatment strategies. In addition, these new technologies could enable systematic and continuous assessment of longitudinal symptom development, beyond the usual scope of clinical practice. Early recognition of exacerbation and simplified, as well as detailed, progression control would become possible. Ultimately, digitally assisted diagnostics will advance early recognition. Nonetheless, digital technologies cannot and should not substitute clinical decision making that takes the comprehensive complexity of individual longitudinal and cross-section presentation of autism spectrum disorder into account. Yet, they might aid the clinician by objectifying decision processes and provide a welcome relief to resources in the clinical setting.

Lien vers le texte intégral (Open Access ou abonnement)

13. Kumazaki H, Muramatsu T, Yoshikawa Y, Matsumoto Y, Ishiguro H, Mimura M. Android robot was beneficial for communication rehabilitation in a patient with schizophrenia comorbid with autism spectrum disorders. Schizophr Res;2023 (Feb 24);254:116-117.

Lien vers le texte intégral (Open Access ou abonnement)

14. Lee SH, Lee S, Kang H, Lee J, Lee WS. Increased Risk of Alopecia Areata in Patients with Autism Spectrum Disorders: A Korean Nationwide Population-based Study. J Am Acad Dermatol;2023 (Feb 21)

Lien vers le texte intégral (Open Access ou abonnement)

15. Libster N, Knox A, Engin S, Geschwind D, Parish-Morris J, Kasari C. Sex differences in friendships and loneliness in autistic and non-autistic children across development. Mol Autism;2023 (Feb 24);14(1):9.

BACKGROUND: Autistic children have been shown to have less complete definitions of friendships and higher levels of loneliness than their non-autistic peers. However, no known studies have explored sex differences in autistic children’s understanding of friendships and reported loneliness across development. Autistic girls demonstrate higher levels of social motivation than autistic boys and appear to « fit in » with their peers, but they often have difficulty recognizing reciprocal friendships during middle childhood. As autistic girls develop a more complex understanding of friendship during adolescence, they may begin to redefine their friendships and experience heightened loneliness. Here, we explored how autistic and non-autistic boys and girls define the meaning of friendship and report feelings of loneliness across development. We also examined their perceptions of friendships and loneliness. METHODS: This mixed-methods study analyzed the transcribed clinical evaluations of 58 autistic children (29 girls) matched to 42 non-autistic children (21 girls) on age and IQ. Transcripts were coded for four categories that children used to define friendships-personality, companionship, dependability, and intimacy-and for reported loneliness. We then compared these codes across diagnosis, sex, and age. Content analyses were further implemented to gain a more holistic understanding of children’s perceptions of friendships and loneliness. RESULTS: Girls, regardless of diagnosis, were more likely than boys to refer to personality when defining the meaning of friendship, and the likelihood of referring to dependability and intimacy increased with age. Most children reported having at least one friend, though some autistic adolescents reported not having friends or were uncertain whether they had friends. While autistic and non-autistic boys and girls were equally likely to report feeling lonely at times, several autistic girls and boys reported being frequently lonely. LIMITATIONS: This study was a secondary data analysis. The standardized set of questions on the ADOS limited the amount of information that children provided about their friendships and perceptions of loneliness. CONCLUSION: As with non-autistic children, autistic children acquire a more complex understanding of friendship throughout development. However, as children begin to prioritize dependability and intimacy in friendships, autistic adolescents may have difficulty developing friendships characterized by these constructs. Furthermore, the quantity and/or quality of autistic children’s friendships may not be sufficient to alleviate loneliness.

Lien vers le texte intégral (Open Access ou abonnement)

16. Maddalon L, Minissi ME, Torres SC, Gómez-García S, Alcañiz M. Virtual humans for ASD intervention: a brief scoping review. Medicina (B Aires);2023 (Mar);83 Suppl 2:48-52.

Individuals with autism spectrum disorder may present social-communicative and behavioral deficits. Recently, research on treatment and diagnosis has shifted its focus to the application of new technologies. Among them is virtual reality, which guarantees a high sense of realism to the experience and allows the implementation of a virtual agent that facilitates the use of the application. In social skills interventions, it has been mostly chosen to implement a virtual agent with a human appearance. Virtual humans guide the user-system interaction through the use of verbal and nonverbal language. They can be equipped with responsiveness: the ability to provide responses to the user based on data recorded during the use of the technology. Responsiveness is functional when the goal is to create an interaction similar to that of everyday life, as it allows for behavioral responses and, at a more sophisticated level, vocal responses. Considering virtual agents capable of holding a conversation with the user, to date three different methods have been implemented that make communication more or less realistic. This brief review proposes a synopsis of relevant virtual humans’ features and highlights some key ASD research areas wherein virtual humans are implemented for diagnosis and treatment. A total of 11 studies were selected and their analysis was summarized into 7 main categories. Finally, the clinical and technological implications of the results found were discussed.

Lien vers le texte intégral (Open Access ou abonnement)

17. Mazón-Cabrera R, Liesenborgs J, Brône B, Vandormael P, Somers V. Novel maternal autoantibodies in autism spectrum disorder: Implications for screening and diagnosis. Front Neurosci;2023;17:1067833.

INTRODUCTION: Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder for which early recognition is a major challenge. Autoantibodies against fetal brain antigens have been found in the blood of mothers of children with ASD (m-ASD) and can be transferred to the fetus where they can impact neurodevelopment by binding to fetal brain proteins. This study aims to identify novel maternal autoantibodies reactive against human fetal brain antigens, and explore their use as biomarkers for ASD screening and diagnosis. METHODS: A custom-made human fetal brain cDNA phage display library was constructed, and screened for antibody reactivity in m-ASD samples from the Simons Simplex Collection (SSC) of the Simons Foundation Autism Research Initiative (SFARI). Antibody reactivity against 6 identified antigens was determined in plasma samples of 238 m-ASD and 90 mothers with typically developing children (m-TD). RESULTS: We identified antibodies to 6 novel University Hasselt (UH)-ASD antigens, including three novel m-ASD autoantigens, i.e., ribosomal protein L23 (RPL23), glyceraldehyde-3-phosphate dehydrogenase (GAPDH) and calmodulin-regulated spectrin-associated protein 3 (CAMSAP3). Antibody reactivity against a panel of four of these targets was found in 16% of m-ASD samples, compared to 4% in m-TD samples (p = 0.0049). DISCUSSION: Maternal antibodies against 4 UH-ASD antigens could therefore provide a novel tool to support the diagnosis of ASD in a subset of individuals.

Lien vers le texte intégral (Open Access ou abonnement)

18. Miranda A, Mira Á, Baixauli I, Roselló B. [Risk/resilience factors in families with children with autism. Association with evolution in adolescence]. Medicina (B Aires);2023 (Mar);83 Suppl 2:53-57.

The influence of parental stress and the moderating effect of coping strategies and social support in children with autism is well documented. The number of works with a cross-sectional design contrasts with the scarcity of studies with a longitudinal design that would allow to deepen in the relationships between characteristics of the family context and the evolution of the disorder. The present follow-up study is devoted to the analysis of these relationships over time from childhood (T1) to adolescence (T2), also assessing the results in different developmental domains. Forty-five adolescents with ASD participated, divided into two groups according to family environment, high risk (HR; N=18) and low risk (LR; N=27). The results confirm and extend those obtained in cross-sectional work, showing the negative influence of a risky family environment on the severity of ASD and the development of socio-adaptive skills. Psychoeducation, cognitive-behavioural therapy and mindfulness have been shown to decrease parental stress and increase feelings of self-efficacy.

Lien vers le texte intégral (Open Access ou abonnement)

19. O’Hearn K, Lynn A. Age differences and brain maturation provide insight into heterogeneous results in autism spectrum disorder. Front Hum Neurosci;2022;16:957375.

Studies comparing individuals with autism spectrum disorder (ASD) to typically developing (TD) individuals have yielded inconsistent results. These inconsistencies reflect, in part, atypical trajectories of development in children and young adults with ASD compared to TD peers. These different trajectories alter group differences between children with and without ASD as they age. This paper first summarizes the disparate trajectories evident in our studies and, upon further investigation, laboratories using the same recruiting source. These studies indicated that cognition improves into adulthood typically, and is associated with the maturation of striatal, frontal, and temporal lobes, but these age-related improvements did not emerge in the young adults with ASD. This pattern – of improvement into adulthood in the TD group but not in the group with ASD – occurred in both social and non-social tasks. However, the difference between TD and ASD trajectories was most robust on a social task, face recognition. While tempting to ascribe this uneven deficit to the social differences in ASD, it may also reflect the prolonged typical development of social cognitive tasks such as face recognition into adulthood. This paper then reviews the evidence on age-related and developmental changes from other studies on ASD. The broader literature also suggests that individuals with ASD do not exhibit the typical improvements during adolescence on skills important for navigating the transition to adulthood. These skills include execution function, social cognition and communication, and emotional recognition and self-awareness. Relatedly, neuroimaging studies indicate arrested or atypical brain maturation in striatal, frontal, and temporal regions during adolescence in ASD. This review not only highlights the importance of a developmental framework and explicit consideration of age and/or stage when studying ASD, but also the potential importance of adolescence on outcomes in ASD.

Lien vers le texte intégral (Open Access ou abonnement)

20. Ruggieri V. [Autism and catatonia – Clinical aspects]. Medicina (B Aires);2023 (Mar);83 Suppl 2:43-47.

Autism is a neurodevelopmental disorder characterized by a qualitative alteration in social interaction and communication, associated with restricted interests and stereotyped behaviors. It can be associated with medical problems such as epilepsy, gastrointestinal dysfunction, sleep disorders, other neurodevelopmental disorders such as language impairment, intellectual disability, sensory dysfunction, ADH/D, motor clumsiness, and/or neuropsychiatric disorders such as anxiety, depression, catatonia, schizophrenia, obsessive-compulsive disorders, behavioral and impulsive disorders, among others. Catatonia is recognized as a neuropsychiatric syndrome identified in all major mood and psychotic disorders, due to general medical conditions or as a syndrome not otherwise specified; this allows catatonia to be coded in the context of other psychiatric or neurodevelopmental disorders, such as obsessive-compulsive disorder or autism. It is characterized by abnormal motor, vocal, and behavioral symptoms, with impaired volition and vegetative function. It is estimated that approximately 8-11% of autistic people suffer from catatonia. It is probable that there is an underreporting of catatonia, especially in people with autism, due to the lack of alertness about it, the clinical heterogeneity and the similarity of many of its symptoms with manifestations of autism. Many times it can even express itself as a late autistic regression from puberty to adult life. Its neurobiological bases are still not clear and the treatment is based on the administration of bensodiazepines and electroconvulsive therapy although there is still a long way to go to investigate these issues.

Lien vers le texte intégral (Open Access ou abonnement)

21. Sefrioui MR, Elidrissi I, El Othmani IS, Derfoufi S, Said AAH, Benmoussa A, Derraji S. Profile of autism spectrum disorders in Morocco: cross-sectional retrospective study of parents of children with autism. Med Pharm Rep;2023 (Jan);96(1):71-78.

CONTEXT AND OBJECTIVE: In Morocco, autism is a frequent disorder and no epidemiological studies have been carried out. The aim of this work is to analyze the characteristics of the onset of autism in children. SETTINGS AND DESIGN: We conducted a cross-sectional retrospective study, spread over a period of 10 months. METHODS: We included in our survey children who, according to the DSM 5 definition, had one of the autism spectrum disorders and had a well-defined diagnosis. For the statistical analysis we used Excel® software. We used the percentages for the description of the qualitative variables. RESULTS: Of the parents of children with ASD, 49% were biological mothers. Of these, 30% women had their child when they were between 30 and 35 years of age. Males accounted for 61% of children with a sex ratio of 2.6. The first autistic traits appeared at the age of 18 months for 22% of our population. Of mothers with children with ASD, 83% had regular medical follow-up throughout their pregnancy. All autistic children in our population were vaccinated according to the National Immunization Program. According to parent reports, 70% affirmed that the first autistic features appeared after vaccination with the measles-mumps-rubella (MMR) vaccine, knowing that this statement is not based on evidence. CONCLUSIONS: The quality of care depends on the age at which the diagnosis of autism is established.

Lien vers le texte intégral (Open Access ou abonnement)

22. Semovski V, King C, Lapshina N, Stewart SL. A cross-sectional examination of service complexity in youths with co-occurring autism spectrum disorder and psychiatric or medical diagnoses across service sectors. Front Psychol;2022;13:1027373.

INTRODUCTION: Autism spectrum disorder (ASD) is a heterogeneous, life-long, and complex condition. Youth diagnosed with ASD require several supports addressing core symptoms associated with the disorder, but also those resulting from co-occurring mental and physical health conditions. As a result, their care is overseen by numerous professionals spanning various service sectors, but communication between sectors is hindered due to the absence of a standardized assessment system to identify and triage youth to services. A paucity of information surrounding this population’s service use lingers and a siloed delivery system persists. METHODS: Using archival data collected from 1,020 youth between 12 and 18 years of age, this study explored service complexity among autistic youth with and without psychiatric and medical co-occurring conditions in Ontario, Canada. In doing so, a negative binomial regression was utilized to investigate which predisposing, enabling, and need variables were associated with service complexity. RESULTS: Results revealed that experiencing financial difficulties was not associated with service complexity. However, age, sex, caregiver distress, comorbidity, intellectual disability, and evaluated health status were significant predictors. More specifically, female youth and youth with distressed caregivers had greater mental health service complexity scores. Additionally, youth diagnosed with two or more conditions in addition to ASD who required longer durations of programming, controlling for other predictors, had greater mental health service complexity scores. Yet, youth with an intellectual disability had lower service complexity scores. DISCUSSION: Clinical implications of this study are discussed to inform future investments into mental health efforts for autistic youth.

Lien vers le texte intégral (Open Access ou abonnement)

23. Suri KN, Whedon M, Lewis M. Perception of audio-visual synchrony in infants at elevated likelihood of developing autism spectrum disorder. Eur J Pediatr;2023 (Feb 23)

The inability to perceive audio-visual speech as a unified event may contribute to social impairments and language deficits in children with autism spectrum disorder (ASD). In this study, we examined and compared two groups of infants on their sensitivity to audio-visual asynchrony for a social (speaking face) and non-social event (bouncing ball) and assessed the relations between multisensory integration and language production. Infants at elevated likelihood of developing ASD were less sensitive to audio-visual synchrony for the social event than infants without elevated likelihood. Among infants without elevated likelihood, greater sensitivity to audio-visual synchrony for the social event was associated with a larger productive vocabulary. CONCLUSION: Findings suggest that early deficits in multisensory integration may impair language development among infants with elevated likelihood of developing ASD. WHAT IS KNOWN: •Perceptual integration of auditory and visual cues within speech is important for language development. •Prior work suggests that children with ASD are less sensitive to the temporal synchrony within audio-visual speech. WHAT IS NEW: •In this study, infants at elevated likelihood of developing ASD showed a larger temporal binding window for adynamic social event (Speaking Face) than TD infants, suggesting less efficient multisensory integration.

Lien vers le texte intégral (Open Access ou abonnement)

24. Takahashi E, Allan N, Peres R, Ortug A, van der Kouwe AJW, Valli B, Ethier E, Levman J, Baumer N, Tsujimura K, Vargas-Maya NI, McCracken TA, Lee R, Maunakea AK. Integration of structural MRI and epigenetic analyses hint at linked cellular defects of the subventricular zone and insular cortex in autism: Findings from a case study. Front Neurosci;2022;16:1023665.

INTRODUCTION: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social interaction, communication and repetitive, restrictive behaviors, features supported by cortical activity. Given the importance of the subventricular zone (SVZ) of the lateral ventrical to cortical development, we compared molecular, cellular, and structural differences in the SVZ and linked cortical regions in specimens of ASD cases and sex and age-matched unaffected brain. METHODS: We used magnetic resonance imaging (MRI) and diffusion tractography on ex vivo postmortem brain samples, which we further analyzed by Whole Genome Bisulfite Sequencing (WGBS), Flow Cytometry, and RT qPCR. RESULTS: Through MRI, we observed decreased tractography pathways from the dorsal SVZ, increased pathways from the posterior ventral SVZ to the insular cortex, and variable cortical thickness within the insular cortex in ASD diagnosed case relative to unaffected controls. Long-range tractography pathways from and to the insula were also reduced in the ASD case. FACS-based cell sorting revealed an increased population of proliferating cells in the SVZ of ASD case relative to the unaffected control. Targeted qPCR assays of SVZ tissue demonstrated significantly reduced expression levels of genes involved in differentiation and migration of neurons in ASD relative to the control counterpart. Finally, using genome-wide DNA methylation analyses, we identified 19 genes relevant to neurological development, function, and disease, 7 of which have not previously been described in ASD, that were significantly differentially methylated in autistic SVZ and insula specimens. CONCLUSION: These findings suggest a hypothesis that epigenetic changes during neurodevelopment alter the trajectory of proliferation, migration, and differentiation in the SVZ, impacting cortical structure and function and resulting in ASD phenotypes.

Lien vers le texte intégral (Open Access ou abonnement)

25. Thompson K, Wallisch A, Nowell S, Meredith J, Boyd B. Short report: The role of oral hypersensitivity in feeding behaviors of young autistic children. Autism;2023 (Feb 24):13623613221135091.

Feeding problems are common among autistic children and are linked to negative health consequences. Therefore, understanding feeding problems and factors that influence these behaviors is important for developing supports for children and families. While certain sensory processing patterns are commonly associated with feeding problems, less is known about the link between sensory processing and feeding behaviors in autism, as well as how parent behaviors and feelings during mealtime differ based on child sensory preferences. This research examined two groups of young autistic children who were reported to be picky eaters by their parents: those with and those without oral hypersensitivity. Children with oral hypersensitivity had more difficulty with food acceptance and their parents reported more negative feelings around feeding their child. However, the two groups of children (oral hypersensitive and not) did not differ in their medical/oral motor symptoms, mealtime behavior, or parent use of strategies at mealtimes. This research supports the need for personalized treatment strategies based on the child’s sensory preferences to support both the child and parent in managing mealtimes.

Lien vers le texte intégral (Open Access ou abonnement)

26. Walter A, Martz E, Weibel S, Weiner L. Tackling emotional processing in adults with attention deficit hyperactivity disorder and attention deficit hyperactivity disorder + autism spectrum disorder using emotional and action verbal fluency tasks. Front Psychiatry;2023;14:1098210.

INTRODUCTION: Attention Deficit Hyperactivity Disorder (ADHD) and Autism Spectrum Disorder (ASD) are two neurodevelopmental conditions with neuropsychological, social, emotional, and psychopathological similarities. Both are characterized by executive dysfunction, emotion dysregulation (ED), and psychiatric comorbidities. By focusing on emotions and embodied cognition, this study aims to improve the understanding of overlapping symptoms between ADHD and ASD through the use of verbal fluency tasks. METHODS: Fifty-two adults with ADHD, 13 adults with ADHD + ASD and 24 neurotypical (NT) participants were recruited in this study. A neuropsychological evaluation, including different verbal fluency conditions (e.g. emotional and action), was proposed. Subjects also completed several self-report questionnaires, such as scales measuring symptoms of ED. RESULTS: Compared to NT controls, adults with ADHD + ASD produced fewer anger-related emotions. Symptoms of emotion dysregulation were associated with an increased number of actions verbs and emotions produced in ADHD. DISCUSSION: The association between affective language of adults with ADHD and symptoms of emotion dysregulation may reflect their social maladjustment. Moreover, the addition of ADHD + ASD conditions may reflect more severe affective dysfunction.

Lien vers le texte intégral (Open Access ou abonnement)

27. Wang J, Wei S, Zhang J, Wang H. Association between RIT2 rs16976358 Polymorphism and Autism Spectrum Disorder in Asian Populations: A Meta-analysis. Biomed Res Int;2023;2023:8886927.

BACKGROUND: Recent studies have shown that Ras-like without CAAX2 (RIT2) polymorphism is a susceptible factor for Parkinson’s disease (PD) and autism spectrum disorder (ASD). SNP rs12456492 and rs16976358 show the emerging evidence of increased risk of PD and ASD, respectively. A meta-analysis examining the relationship between rs12456492 and PD was reported, but the association between rs16976358 and ASD has not been investigated. METHODS: We searched literature from the databases PubMed, Embase, Google Scholar, ScienceDirect, EBSCOhost, OVID, Web of Science, and Wiley up to February 2021. Three studies including 1160 ASD cases and 1367 controls were eventually enrolled in the meta-analysis based on strict inclusion and exclusion criteria. RESULTS: All genetics models indicate a significant association between rs16976358 polymorphism and ASD susceptibility (C vs. T: p = 0.001; CC vs. TT: p = 0.001; CT vs. TT: p = 0.009; CC+CT vs. TT: p = 0.001; CC vs. CT+TT: p = 0.001; TT+CC vs. CT: p = 0.013). The results of sensitivity analysis and publication bias of Begg’s and Egger’s tests were stable in the models of allele (C vs. T), codominant (CC vs. TT), dominant (CC+CT vs. TT), and recessive (CC vs. CT+TT). CONCLUSIONS: Our meta-analysis exhibits that the allele C, CC, and CT genotyping of rs16976358 suggest the risk for ASD, but additional studies using a large sample size and ethnically diverse populations need to be included in the future.

Lien vers le texte intégral (Open Access ou abonnement)

28. Xiong M, Li F, Liu Z, Xie X, Shen H, Li W, Wei L, He R. Efficacy of Melatonin for Insomnia in Children with Autism Spectrum Disorder: A Meta-analysis. Neuropediatrics;2023 (Feb 24)

AIM:  This study aimed to evaluate the effectiveness of melatonin in treating insomnia in children with autism spectrum disorder (ASD). METHODS:  Comprehensive searches were conducted in the PubMed, EMBASE, and Web of Science databases from their inception to April 20, 2022. Data were extracted and assessed for quality by two researchers. Statistical analysis was performed using the Stata 15.0 software. RESULTS:  Four studies including 238 patients were included. The results showed that compared with the control group, melatonin could shorten the sleep-onset latency (standardized mean difference [SMD] = - 1.34, 95% CI: -2.19 to -0.48), reduce the number of awakenings (SMD = -2.35, 95% CI: -4.62 to -0.08), and prolong the total sleep time (SMD = 1.42, 95% CI: 0.5-2.33) in children with ASD. CONCLUSION:  Melatonin has a certain effect on relieving sleep disturbances in children with ASD, which can shorten sleep latency, reduce the number of awakenings, and prolong total sleep time. Larger studies are required to verify this hypothesis.

Lien vers le texte intégral (Open Access ou abonnement)

29. Xiong Y, Chen J, Lv M, Wang F, Zhang H, Tang B, Li Y. Thymol improves autism-like behaviour in VPA-induced ASD rats through the Pin1/p38 MAPK pathway. Int Immunopharmacol;2023 (Feb 24);117:109885.

Inflammation plays an essential role in the pathogenesis of autism spectrum disorder (ASD). Thymol is a bioactive monoterpene isolated from Thymus vulgaris that has anti-inflammatory properties and is helpful in neurodevelopmental disorders. The purpose of this study was to investigate the effects of thymol on autism-like behaviours in rats with VPA-induced ASD and to assess the related molecular mechanisms. In the prefrontal cortex (PFC) of the valproic acid (VPA)-exposed rat model, the levels of Pin1, phosphorylated p38 MAPK, interleukin-1β (IL-1β) and tumour necrosis factor (TNF)-α, were increased, and the levels of PSD95 and synaptophysin (SYP) decreased. After thymol treatment (30 mg/kg), the VPA-induced autism-like behaviours were alleviated. Moreover, thymol also rescued the dysregulated levels of Pin1, phosphorylated p38 MAPK, IL-1β, TNF-α, PSD95, and SYP. In addition, immunofluorescence experiments showed that thymol treatment decreased the correlation between Pin1 and phosphorylated p38 MAPK. Mechanistically, Pin1 knockdown by RNA interference confirmed that Pin1 promotes inflammation via phosphorylation of p38 MAPK in the VPA exposure rat model. In conclusion, thymol improved autism-like behaviours in VPA-induced ASD rats by reducing inflammation and improving neurodevelopment. This effect was mediated by the Pin1/p38 MAPK pathway. These results experimentally provide the potential for thymol in new therapeutic avenues for autism.

Lien vers le texte intégral (Open Access ou abonnement)

30. Yousefian A, Shayegh F, Maleki Z. Detection of autism spectrum disorder using graph representation learning algorithms and deep neural network, based on fMRI signals. Front Syst Neurosci;2022;16:904770.

INTRODUCTION: Can we apply graph representation learning algorithms to identify autism spectrum disorder (ASD) patients within a large brain imaging dataset? ASD is mainly identified by brain functional connectivity patterns. Attempts to unveil the common neural patterns emerged in ASD are the essence of ASD classification. We claim that graph representation learning methods can appropriately extract the connectivity patterns of the brain, in such a way that the method can be generalized to every recording condition, and phenotypical information of subjects. These methods can capture the whole structure of the brain, both local and global properties. METHODS: The investigation is done for the worldwide brain imaging multi-site database known as ABIDE I and II (Autism Brain Imaging Data Exchange). Among different graph representation techniques, we used AWE, Node2vec, Struct2vec, multi node2vec, and Graph2Img. The best approach was Graph2Img, in which after extracting the feature vectors representative of the brain nodes, the PCA algorithm is applied to the matrix of feature vectors. The classifier adapted to the features embedded in graphs is an LeNet deep neural network. RESULTS AND DISCUSSION: Although we could not outperform the previous accuracy of 10-fold cross-validation in the identification of ASD versus control patients in this dataset, for leave-one-site-out cross-validation, we could obtain better results (our accuracy: 80%). The result is that graph embedding methods can prepare the connectivity matrix more suitable for applying to a deep network.

Lien vers le texte intégral (Open Access ou abonnement)

31. Zhu D, Jin X, Guo P, Sun Y, Zhou L, Qing Y, Shen W, Ji G. Efficacy of Faecal Microbiota Transplantation for the Treatment of Autism in Children: Meta-Analysis of Randomised Controlled Trials. Evid Based Complement Alternat Med;2023;2023:5993628.

OBJECTIVE: Evidence-based research methods were applied to assess the efficacy of faecal microbiota transplantation (FMT) for the treatment of autism in children. METHODS: We searched the Chinese Biomedical Literature, CNKI, Wanfang, PubMed, Embase, Web of Science, and the Cochrane Library databases to collect randomised controlled trials on faecal microbiota transplantation for the treatment of autism in children. The search included studies published from the creation of the respective database to 5 April 2022. Literature screening, data extraction, and quality evaluation were implemented by three investigators according to the inclusion and exclusion criteria. The meta-analysis was performed using the RevMan 5.1 software. RESULTS: Nine studies with population-based subjects and four studies with animal-based subjects were included. Five papers were screened for the meta-analysis. The results showed that FMT markedly reduced Autism Behaviour Checklist (ABC) scores in children with autism spectrum disorder (weighted mean difference (WMD) = -14.96; 95% confidence intervals (CI), -21.68 to -8.24; P < 0.001; I (2) = 0%). FMT also reduced Childhood Autism Rating Scale (CARS) scores (WMD = -6.95; 95% CI, -8.76 to -5.14; P < 0.001; I (2) = 28.1%). CONCLUSION: Our results indicate that FMT can benefit children with autism by reducing ABC and CARS scores, but more high-quality studies are needed to verify these results.

Lien vers le texte intégral (Open Access ou abonnement)