1. Correction: Can we distinguish the consequences of early maltreatment on child behaviour from idiopathic autism?. Arch Dis Child. 2024; 109(4): e3.

Lien vers le texte intégral (Open Access ou abonnement)

2. Arsham S, Razeghi R, Movahedi A. Errorless Training Benefits Motor Learning and Kinematic Outcomes in Children With Autism Spectrum Disorders. Percept Mot Skills. 2024: 315125241238308.

Most children with Autism Spectrum Disorder (ASD) have some form of motor deficits. Additionally, based on executive dysfunction, working memory is often atypical in these children. Errorless learning reduces demands on working memory. In this study, we investigated the effectiveness of errorless training on these children’s ability to learn golf putting. Participants (N = 20), aged 9-13 years (M (=) 10.15, SD (=) 1.4), were randomly assigned to either: (a) an errorless (ER) training group (n = 10) or (b) an explicit instruction (EI) group (n = 10). The ER group practiced putting from different distances without any instruction, while the EI group practiced putting at a particular distance with instruction. We measured motor performance (e.g., putting accuracy) and kinematic variables (e.g., putter face angle). One-way analyses of variance showed that motor performance significantly improved in both groups, but that the ER group showed significantly better accuracy retention (p < .028) and transfer learning (p < .047) than the instructional group. Kinematic variables were also significantly different between the two groups on the transfer test. These findings supported the benefits of errorless training compared to explicit instruction to teach motor skills to children with ASD.

Lien vers le texte intégral (Open Access ou abonnement)

3. Assary E, Oginni OA, Morneau-Vaillancourt G, Krebs G, Peel AJ, Palaiologou E, Lockhart C, Ronald A, Eley TC. Genetics of environmental sensitivity and its association with variations in emotional problems, autistic traits, and wellbeing. Mol Psychiatry. 2024.

Greater environmental sensitivity has been associated with increased risk of mental health problems, especially in response to stressors, and lower levels of subjective wellbeing. Conversely, sensitivity also correlates with lower risk of emotional problems in the absence of adversity, and in response to positive environmental influences. Additionally, sensitivity has been found to correlate positively with autistic traits. Individual differences in environmental sensitivity are partly heritable, but it is unknown to what extent the aetiological factors underlying sensitivity overlap with those on emotional problems (anxiety and depressive symptoms), autistic traits and wellbeing. The current study used multivariate twin models and data on sensitivity, emotional problems, autistic traits, and several indices of psychological and subjective wellbeing, from over 2800 adolescent twins in England and Wales. We found that greater overall sensitivity correlated with greater emotional problems, autistic traits, and lower subjective wellbeing. A similar pattern of correlations was found for the Excitation and Sensory factors of sensitivity, but, in contrast, the Aesthetic factor was positively correlated with psychological wellbeing, though not with emotional problems nor autistic traits. The observed correlations were largely due to overlapping genetic influences. Importantly, genetic influences underlying sensitivity explained between 2 and 12% of the variations in emotional problems, autistic traits, and subjective wellbeing, independent of trait-specific or overlapping genetic influences. These findings encourage incorporating the genetics of environmental sensitivity in future genomic studies aiming to delineate the heterogeneity in emotional problems, autistic traits, and wellbeing.

Lien vers le texte intégral (Open Access ou abonnement)

4. Collins AS, Carroll KJ, Gerber AH, Keenan EG, Lerner MD. Theory of Mind and Social Informant Discrepancy in Autism. Child Psychiatry Hum Dev. 2024.

When autistic youth are asked to assess their own social skills, they frequently rate themselves more favorably than their parents rate them. The magnitude of this informant discrepancy has been shown to relate to key clinical outcomes such as treatment response. It has been proposed that this discrepancy arises from difficulties with Theory of Mind. Participants were 167 youth 11 to 17 years old; 72% male, and their parents. Youth completed self-report measures of social skills and social cognitive tasks, while their parents completed questionnaires regarding social skills. A repeated-measures ANOVA indicated both non-autistic and autistic youth rated themselves more favorably than their parents rated them across all measures. Zero-order correlations revealed that raw differences between parent- and participant-report were negatively correlated with scores on parent-reported Theory of Mind measures. However, polynomial analysis did not indicate interaction effects between parent- and participant-report on any of the measures used. Polynomial regression revealed that increases in parent-reported social skill predicted larger increases in parent-report Theory of Mind at low levels of parent-reported social skill compared to high levels of parent-reported social skill. Participant-report social skills predicted performance on a behavioral Theory of Mind test in a curvilinear fashion, such that the relationship was positive at low levels of participant-reported social skills, but negative at high levels. This study replicates the finding that raw difference score analyses may result in illusory effects that are not supported when using more contemporary analysis methods, and that more complex and subtle relationships between social insight and perspective-taking exist within autistic youth.

Lien vers le texte intégral (Open Access ou abonnement)

5. Corbo A, Tzeng JP, Scott S, Cheves E, Cope H, Peay H. Parent perspectives following newborn screening resulting in diagnoses of fragile X syndrome or fragile X premutation. Res Dev Disabil. 2024; 148: 104719.

BACKGROUND: Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability. Early Check, a voluntary newborn screening study, screened 18,833 newborns for FXS over ∼3 years. Exploring parental attitudes and perspectives can provide insight to the potential future acceptability of public health screening. METHODS AND PROCEDURES: Mothers of infants who received a screen positive result for FXS (n = 6) or fragile X premutation (FXPM; n = 18) were interviewed about their perceptions and experiences. OUTCOMES AND RESULTS: Mothers of children with FXS described utility in receiving information about their child, particularly to monitor for potential developmental issues and intervene early; overall mothers did not regret participating. Mothers reported various reactions to receiving the FXS or FXPM results including (1) stress and worry; (2) guilt; (3) sadness and disappointment; (4) neutrality, relief, and acceptance; and (5) confusion and uncertainty. CONCLUSIONS AND IMPLICATIONS: Despite initial reactions such as sadness, stress, and worry, mothers found value in learning of their child’s presymptomatic diagnosis of FXS, particularly the anticipated long-term benefits of early diagnosis to their child’s health and wellbeing. Our results indicate that professionals returning positive newborn screening results should anticipate and prepare for reactions such as parental shock, guilt, sadness, and uncertainty. Genetic counseling and psychosocial support are critical to supporting families.

Lien vers le texte intégral (Open Access ou abonnement)

6. Dohrn MF, Bademci G, Rebelo AP, Jeanne M, Borja NA, Beijer D, Danzi MC, Bivona SA, Gueguen P, Zafeer MF, Tekin M, Züchner S. Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism. Ann Clin Transl Neurol. 2024.

ATP1A1 encodes a sodium-potassium ATPase that has been linked to several neurological diseases. Using exome and genome sequencing, we identified the heterozygous ATP1A1 variant NM_000701.8: c.2707G>A;p.(Gly903Arg) in two unrelated children presenting with delayed motor and speech development and autism. While absent in controls, the variant occurred de novo in one proband and co-segregated in two affected half-siblings, with mosaicism in the healthy mother. Using a specific ouabain resistance assay in mutant transfected HEK cells, we found significantly reduced cell viability. Demonstrating loss of ATPase function, we conclude that this novel variant is pathogenic, expanding the phenotype spectrum of ATP1A1.

Lien vers le texte intégral (Open Access ou abonnement)

7. Egilmezer E, Hamilton ST, Foster CSP, Marschall M, Rawlinson WD. Human cytomegalovirus (CMV) dysregulates neurodevelopmental pathways in cerebral organoids. Commun Biol. 2024; 7(1): 340.

Human cytomegalovirus (CMV) infection is the leading non-genetic aetiology of congenital malformation in developed countries, causing significant fetal neurological injury. This study investigated potential CMV pathogenetic mechanisms of fetal neural malformation using in vitro human cerebral organoids. Cerebral organoids were permissive to CMV replication, and infection dysregulated cellular pluripotency and differentiation pathways. Aberrant expression of dual-specificity tyrosine phosphorylation-regulated kinases (DYRK), sonic hedgehog (SHH), pluripotency, neurodegeneration, axon guidance, hippo signalling and dopaminergic synapse pathways were observed in CMV-infected organoids using immunofluorescence and RNA-sequencing. Infection with CMV resulted in dysregulation of 236 Autism Spectrum Disorder (ASD)-related genes (p = 1.57E-05) and pathways. This notable observation suggests potential links between congenital CMV infection and ASD. Using DisGeNET databases, 103 diseases related to neural malformation or mental disorders were enriched in CMV-infected organoids. Cytomegalovirus infection-related dysregulation of key cerebral cellular pathways potentially provides important, modifiable pathogenetic mechanisms for congenital CMV-induced neural malformation and ASD.

Lien vers le texte intégral (Open Access ou abonnement)

8. Feller C, Ilen L, Eliez S, Schneider M. Social skills in neurodevelopmental disorders: a study using role-plays to assess adolescents and young adults with 22q11.2 deletion syndrome and autism spectrum disorders. J Neurodev Disord. 2024; 16(1): 11.

BACKGROUNDS: Social skills are frequently impaired in neurodevelopmental disorders and genetic conditions, including 22q11.2 deletion syndrome (22q11DS) and autism spectrum disorders (ASD). Although often assessed with questionnaires, direct assessment provides a more valid estimate of the constructs. Role-plays (i.e., simulates situational settings) therefore appear to be an appropriate indicator of social skills in daily life. METHODS: This co-registered study involved 53 individuals with 22q11DS, 34 individuals with ASD, and 64 typically developing (TD) peers aged 12-30 years. All participants were assessed with role-plays as well as parent-reported questionnaires and clinical interviews focusing on social skills, functioning and anxiety. RESULTS: Both clinical groups showed impaired social skills compared to TD, but distinct social profiles emerged between the groups. Individuals with 22q11DS displayed higher social appropriateness and clarity of speech but weaker general argumentation and negotiation skills, with the opposite pattern observed in participants with ASD. No association was found between social skills measured by direct observation and caregiver reports. Social anxiety, although higher in clinical groups than in TD, was not associated with role-plays. CONCLUSIONS: This study highlights the need to train social skills through tailored interventions to target the specific difficulties of each clinical population. It also highlights the importance of combining measures as they do not necessarily provide the same outcome.

Lien vers le texte intégral (Open Access ou abonnement)

9. Gleeson MB, Grindle H, Gleeson MM. Letter to the Editor: Supporting Drivers with Autism and Police Officer Interactions-Connecticut’s Blue Envelope Program. J Autism Dev Disord. 2024.

The rising prevalence of autism spectrum disorder (ASD) has led to increased efforts to support individuals with ASD across numerous aspects of life, including driving. While obtaining a driver’s license substantially impacts quality of life and independence, it also creates distinct challenges for those with ASD. Challenges surrounding social communication, executive functioning, and sensory sensitivities are particularly evident when considering interactions between drivers with ASD and law enforcement personnel. Connecticut’s Blue Envelope Program aims to improve interactions between drivers with and ASD law enforcement by providing instructions for officers and drivers to follow during routine traffic stops on a physical, blue colored, envelope. The instructional guidelines aim to assist officers in understanding and appropriately responding to common ASD-related behaviors which may be otherwise misinterpreted and includes accommodations officers could consider during a stop. Additionally, the envelope outlines clear steps for drivers with ASD to follow through the stop as to support predictability and expectations. The widespread acceptance, efficacy and popularity of the Blue Envelope program underscores the importance of increasing awareness and understanding of ASD among law enforcement and the need for more supports to aid in these increasing interactions. Discussion is offered on a broader implementation of this program to support individuals with ASD and officers, while improving the outcomes of interactions.

Lien vers le texte intégral (Open Access ou abonnement)

10. Hughes MM, Pas ET, Durkin MS, DaWalt LS, Bilder DA, Bakian AV, Amoakohene E, Shaw KA, Patrick ME, Salinas A, DiRienzo M, Lopez M, Williams S, McArthur D, Hudson A, Ladd-Acosta CM, Schwenk YD, Baroud TM, Robinson Williams A, Washington A, Maenner MJ. Health Conditions, Education Services, and Transition Planning for Adolescents With Autism. Pediatrics. 2024.

OBJECTIVE: Our objectives with this study were to describe the frequency of selected cooccurring health conditions and individualized education program (IEP) services and post-high school transition planning for adolescents with autism spectrum disorder and identify disparities by sex, intellectual ability, race or ethnicity, and geographic area. METHODS: The study sample included 1787 adolescents born in 2004 who were identified as having autism through a health and education record review through age 16 years in 2020. These adolescents were part of a longitudinal population-based surveillance birth cohort from the Autism and Developmental Disabilities Monitoring Network from 2004 to 2020 in 5 US catchment areas. RESULTS: Attention deficit hyperactivity disorder (47%) and anxiety (39%) were the most common cooccurring health conditions. Anxiety was less commonly identified for those with intellectual disability than those without. It was also less commonly identified among Black adolescents compared with White or Hispanic adolescents. There was wide variation across Autism and Developmental Disabilities Monitoring Network sites in the provision of school-based IEP services. Students with intellectual disability were less likely to receive school-based mental health services and more likely to have a goal for postsecondary independent living skills compared with those without intellectual disability. A total of 37% of students did not participate in standardized testing. CONCLUSIONS: We identified disparities in the identification of cooccurring conditions and school-based IEP services, practices, and transition planning. Working with pediatric health and education providers, families, and adolescents with autism will be important to identify contributing factors and to focus efforts to reduce disparities in the supports and services adolescents with autism have access to and receive.

Lien vers le texte intégral (Open Access ou abonnement)

11. Khashan AS, O’Keeffe GW. The Impact of Maternal Inflammatory Conditions During Pregnancy on the Risk of Autism: Methodological Challenges. Biol Psychiatry Glob Open Sci. 2024; 4(2): 100287.

Lien vers le texte intégral (Open Access ou abonnement)

12. Leow KQ, Tonta MA, Lu J, Coleman HA, Parkington HC. Towards understanding sex differences in autism spectrum disorders. Brain Res. 2024; 1833: 148877.

Autism Spectrum Disorder (ASD) is a neurodevelopmental condition characterized by social deficits, repetitive behaviours and lack of empathy. Its significant genetic heritability and potential comorbidities often lead to diagnostic and therapeutic challenges. This review addresses the biological basis of ASD, focusing on the sex differences in gene expression and hormonal influences. ASD is more commonly diagnosed in males at a ratio of 4:1, indicating a potential oversight in female-specific ASD research and a risk of underdiagnosis in females. We consider how ASD manifests differently across sexes by exploring differential gene expression in female and male brains and consider how variations in steroid hormones influence ASD characteristics. Synaptic function, including excitation/inhibition ratio imbalance, is influenced by gene mutations and this is explored as a key factor in the cognitive and behavioural manifestations of ASD. We also discuss the role of micro RNAs (miRNAs) and highlight a novel mutation in miRNA-873, which affects a suite of key synaptic genes, neurexin, neuroligin, SHANK and post-synaptic density proteins, implicated in the pathology of ASD. Our review suggests that genetic predisposition, sex differences in brain gene expression, and hormonal factors significantly contribute to the presentation, identification and severity of ASD, necessitating sex-specific considerations in diagnosis and treatments. These findings advocate for personalized interventions to improve the outcomes for individuals with ASD.

Lien vers le texte intégral (Open Access ou abonnement)

13. Li YX, Tan ZN, Li XH, Ma B, Adu Nti F, Lv XQ, Tian ZJ, Yan R, Man HY, Ma XM. Increased gene dosage of RFWD2 causes autistic-like behaviors and aberrant synaptic formation and function in mice. Mol Psychiatry. 2024.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impaired social interactions, communication deficits and repetitive behaviors. A study of autistic human subjects has identified RFWD2 as a susceptibility gene for autism, and autistic patients have 3 copies of the RFWD2 gene. The role of RFWD2 as an E3 ligase in neuronal functions, and its contribution to the pathophysiology of ASD, remain unknown. We generated RFWD2 knockin mice to model the human autistic condition of high gene dosage of RFWD2. We found that heterozygous knockin (Rfwd2(+/-)) male mice exhibited the core symptoms of autism. Rfwd2(+/-) male mice showed deficits in social interaction and communication, increased repetitive and anxiety-like behavior, and spatial memory deficits, whereas Rfwd2(+/-) female mice showed subtle deficits in social communication and spatial memory but were normal in anxiety-like, repetitive, and social behaviors. These autistic-like behaviors in males were accompanied by a reduction in dendritic spine density and abnormal synaptic function on layer II/III pyramidal neurons in the prelimbic area of the medial prefrontal cortex (mPFC), as well as decreased expression of synaptic proteins. Impaired social behaviors in Rfwd2(+/-) male mice were rescued by the expression of ETV5, one of the major substrates of RFWD2, in the mPFC. These findings indicate an important role of RFWD2 in the pathogenesis of autism.

Lien vers le texte intégral (Open Access ou abonnement)

14. Mishra A. A Randomized Controlled Trial Comparing Face-to-Face Versus Remote Delivery of Low-Tech Augmentative and Alternative Communication in Nonspeaking Children With Autism Spectrum Disorder. J Speech Lang Hear Res. 2024: 1-12.

PURPOSE: Thirty percent of children diagnosed with autism spectrum disorder (ASD) do not develop spoken language. To provide a means of communication for this subset of the population, augmentative and alternative communication (AAC) systems are often utilized. Low-tech options have traditionally been delivered through the in-person modality. However, due to the COVID-19 pandemic, changes to service delivery models have been required. This randomized controlled trial was conducted in order to assess the efficacy of low-tech AAC delivered face-to-face versus remotely on communication outcomes in nonspeaking children with ASD. CONCLUSIONS: Both participant groups demonstrated similar gains in AAC proficiency, number and type of nonspeaking acts, and number of spoken communication acts. Remote delivery of low-tech AAC treatment is a viable alternative to face-to-face instruction.

Lien vers le texte intégral (Open Access ou abonnement)

15. Németh V, Győri M, Ehmann B, Völgyesi-Molnár M, Stefanik K. « …in the middle of nowhere… » Access to, and quality of, services for autistic adults from parents’ perspectives: a qualitative study. Front Psychiatry. 2024; 15: 1279094.

INTRODUCTION: Adequate education, employment, and services for autistic individuals contribute significantly to their and their parents’ quality of life. Services and support for adults are dramatically more limited than those for children. The main purpose of this study was to explore how parents perceive factors supporting/hindering access to services, and how they assess the quality of services. METHODS: Qualitative data provided by 12 parents via a semi-structured interview with a broader focus on parental quality of life and its factors were analyzed. Their autistic children were between 20 and 34 years of age. A thematic analysis was performed on parts of the narratives on their adult periods of life. RESULTS: A complex pattern of parental perception of supportive and hampering factors influencing access to services unfolded. The sparsity of services/activities and reliable information on them made the space for autonomous decisions on service take highly limited. Parents have modest expectations on quality of services, evaluating them along two key aspects: a safe, positive atmosphere, and communication between parents and professionals. Other aspects of individualized autism-specific support were not or just rarely mentioned. DISCUSSION: Parents perceive themselves as investing a lot of effort and resources in getting some form of regular service and/or activity for their adult child. However, these parental efforts often fail, their child becoming inactive, and dependent on their presence. This suggests system-level problems with services for autistic adults in Hungary, with literature showing it is not specific to this country.

Lien vers le texte intégral (Open Access ou abonnement)

16. Onnink M, Teunissen LB, Verstraten PF, van Nispen RM, van der Aa HP. Experts’ perspectives on the impact of visual impairment and comorbid mental disorders on functioning in essential life domains. BMC Psychiatry. 2024; 24(1): 209.

BACKGROUND: Visual impairment (VI) with comorbid mental disorders (MDs) are expected to have a major impact on people’s daily functioning, for which tailored support is needed. However, this has been barely investigated. Therefore, this study aimed to (1) determine the impact of VI and comorbid MDs on functioning in essential life domains, (2) gain insight into best-practices that are currently used to support this target group, and (3) determine strategies to optimize care in the future. METHODS: A four-step qualitative Delphi method was used to obtain input from 31 Dutch professionals who work with this target group (84% female, mean age 46 years, on average 11 years of experience in working with the target group). The Self-Sufficiency Matrices were used to determine the impact on various aspects of daily living, for people with VI and (1) autism spectrum disorder, (2) psychotic disorders, (3) obsessive-compulsive disorder, (4) antisocial personality disorder, (5) borderline personality disorder, (6) dependent personality disorder. RESULTS: Experts describe a frail and vulnerable population, in which the VI and MD often have a cumulative negative impact on people’s physical and mental health. People frequently experience anxiety, depression, fatigue and sleep disturbances. Also, many tend to neglect self-care and substance abuse is common. They often experience difficulty in trusting others while at the same time being dependent on them. Social interaction and relationships are complicated because of communication restrictions (e.g. no facial recognition) and social incompetence or withdrawal. Experts advise taking transdiagnostic factors into account, using evidence-based psychological treatment options based on an intermittent approach, and offering multidisciplinary care. They stress the importance of building trust, showing patience and empathy, stimulating empowerment, involving the informal network and building on positive experiences. CONCLUSION: VI and comorbid MD have a major impact on people’s daily functioning on a mental, physical, social and environmental level. This study provides insight into best-practices to support this target group. According to experts, more research is needed which could be aimed at investigating tailored diagnostic approaches and treatment options and include clients’ perspectives.

Lien vers le texte intégral (Open Access ou abonnement)

17. Ranaut A, Khandnor P, Chand T. Identifying autism using EEG: unleashing the power of feature selection and machine learning. Biomed Phys Eng Express. 2024; 10(3).

Autism Spectrum Disorder (ASD) is a neurodevelopmental condition that is characterized by communication barriers, societal disengagement, and monotonous actions. Currently, the diagnosis of ASD is made by experts through a subjective and time-consuming qualitative behavioural examination using internationally recognized descriptive standards. In this paper, we present an EEG-based three-phase novel approach comprising 29 autistic subjects and 30 neurotypical people. In the first phase, preprocessing of data is performed from which we derived one continuous dataset and four condition-based datasets to determine the role of each dataset in the identification of autism from neurotypical people. In the second phase, time-domain and morphological features were extracted and four different feature selection techniques were applied. In the last phase, five-fold cross-validation is used to evaluate six different machine learning models based on the performance metrics and computational efficiency. The neural network outperformed when trained with maximum relevance and minimum redundancy (MRMR) algorithm on the continuous dataset with 98.10% validation accuracy and 0.9994 area under the curve (AUC) value for model validation, and 98.43% testing accuracy and AUC test value of 0.9998. The decision tree overall performed the second best in terms of computational efficiency and performance accuracy. The results indicate that EEG-based machine learning models have the potential for ASD identification from neurotypical people with a more objective and reliable method.

Lien vers le texte intégral (Open Access ou abonnement)

18. Son E, Alford S. Piloting a Community-Based, Culturally Adapted Health Promotion Program for Children with Autism Spectrum Disorder and Developmental Disabilities in First-Generation Korean Immigrant Families. Health Soc Work. 2024.

Children with autism spectrum disorder and developmental disabilities (ASD/DD) face barriers to participation in health promotion programs due to the lack of available and/or affordable programs and trained staff at recreation centers. Children with ASD/DD in Korean immigrant families are one of the most underserved minority groups due to language, racial/ethnic discrimination, and stigma and shame within their own ethnic community. However, little research is available on development, implementation, and evaluation of a culturally adapted community health promotion program in this population. The purpose of this study is to assess effectiveness of a pilot program for children with ASD/DD from first-generation Korean immigrant families. The pilot study used a quantitative, quasiexperimental design (one-group design with pre- and posttest) following a seven-week health promotion program. We recruited 15 children with ASD/DD, ages nine through 16, from first-generation Korean immigrant families. The findings of the study suggest that the pilot program was effective in gaining nutrition knowledge and increasing physical involvement among participants. Given the fact that Asian immigrants are a fast-growing population and that nearly 75 percent of them were born abroad, development and evaluation of a community-based, culturally adapted health promotion program is urgently needed.

Lien vers le texte intégral (Open Access ou abonnement)

19. Szlamka Z, Sebastián C, Hanlon C, Hoekstra RA. Caregiver-centred empowerment for families raising autistic children: A qualitative case study from Argentina. Autism. 2024: 13623613241238254.

Caregivers of children with developmental disabilities, including autism, often struggle to access services, information and resources in Argentina. Little is known about how caregivers can be empowered to support their children as they wish to in the Argentinian setting. We spoke with 32 people online to understand existing and potential practices of supporting caregivers. The people we spoke with included caregivers, health service providers, non-governmental organisations’ representatives providing services or technical support, special education teachers and policy representatives. Participants said that poverty, and inequalities in accessing support, impact how caregivers can support their children. They mentioned examples that help caregivers feel empowered, such as peer support groups and caregiver training. Many caregivers spoke about how they became advocates for their children and how they developed initiatives such as advocacy campaigns and well-being support groups. Caregivers in Argentina may be empowered in various ways, and the following strategies can improve empowerment: strengthening collaboration between professionals and caregivers; focusing on caregiver mental health; and addressing the profound impact of poverty on the quality of life of families.

Lien vers le texte intégral (Open Access ou abonnement)

20. Torchin H, Tafflet M, Charkaluk ML, Letouzey M, Twillhaar S, Kana G, Benhammou V, Marret S, Basson E, Cambonie G, Datin-Dorrière V, Guellec I, Lebeaux C, Muller JB, Nuytten A, Kaminski M, Ancel PY, Pierrat V. Screening preterm-born infants for autistic traits may help to identify social communication difficulties at five years of age. Acta Paediatr. 2024.

AIM: This study compared neurodevelopmental screening questionnaires completed when preterm-born children reached 2 years of corrected age with social communication skills at 5.5 years of age. METHODS: Eligible subjects were born in 2011 at 24-34 weeks of gestation, participated in a French population-based epidemiological study and were free of motor and sensory impairment at 2 years of corrected age. The Ages and Stages Questionnaire (ASQ) and the Modified Checklist for Autism in Toddlers (M-CHAT) were used at 2 years and the Social Communication Questionnaire (SCQ) at 5.5 years of age. RESULTS: We focused on 2119 children. At 2 years of corrected age, the M-CHAT showed autistic traits in 20.7%, 18.5% and 18.2% of the children born at 24-26, 27-31 and 32-34 weeks of gestation, respectively (p = 0.7). At 5.5 years of age, 12.6%, 12.7% and 9.6% risked social communication difficulties, with an SCQ score ≥90th percentile (p = 0.2). A positive M-CHAT score at 2 years was associated with higher risks of social communication difficulties at 5.5 years of age (odds ratio 3.46, 95% confidence interval 2.04-5.86, p < 0.001). Stratifying ASQ scores produced similar results. CONCLUSION: Using parental neurodevelopmental screening questionnaires for preterm-born children helped to identify the risk of later social communication difficulties.

Lien vers le texte intégral (Open Access ou abonnement)

21. Wang Z, Yuen AS, Wong KH, Chan AY, Coghill D, Simonoff E, Lau WC, Wong IC, Park S, Man KK. Association between prenatal antipsychotic exposure and the risk of attention-deficit/hyperactivity disorder and autism spectrum disorder: a systematic review and meta-analysis. Neurosci Biobehav Rev. 2024; 160: 105635.

The paucity of evidence regarding the safety of gestational antipsychotic exposure has led to treatment discontinuation in pregnant women with severe mental health conditions. This systematic review and meta-analysis aimed to summarise the current evidence on the association between gestational antipsychotic exposure and attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) in children (Study protocol registered in PROSPERO:CRD42022311354). Five studies included in our meta-analysis with around 8.6 million pregnancy episodes in nine different countries/regions. Results from our meta-analysis indicate that the heightened risks of ASD and ADHD in children gestationally exposed to antipsychotics appear to be attributable to maternal characteristics, rather than having a causal relationship with the antipsychotic exposure during pregnancy. The results underscore the importance of meticulously monitoring the neurodevelopment of children born to mothers with mental illnesses, which can facilitate early interventions and provide requisite support.

Lien vers le texte intégral (Open Access ou abonnement)

22. Wegiel J, Chadman K, London E, Wisniewski T, Wegiel J. Contribution of the serotonergic system to developmental brain abnormalities in autism spectrum disorder. Autism Res. 2024.

This review highlights a key role of the serotonergic system in brain development and in distortions of normal brain development in early stages of fetal life resulting in cascades of abnormalities, including defects of neurogenesis, neuronal migration, neuronal growth, differentiation, and arborization, as well as defective neuronal circuit formation in the cortex, subcortical structures, brainstem, and cerebellum of autistic subjects. In autism, defects in regulation of neuronal growth are the most frequent and ubiquitous developmental changes associated with impaired neuron differentiation, smaller size, distorted shape, loss of spatial orientation, and distortion of cortex organization. Common developmental defects of the brain in autism include multiregional focal dysplastic changes contributing to local neuronal circuit distortion, epileptogenic activity, and epilepsy. There is a discrepancy between more than 500 reports demonstrating the contribution of the serotonergic system to autism’s behavioral anomalies, highlighted by lack of studies of autistic subjects’ brainstem raphe nuclei, the center of brain serotonergic innervation, and of the contribution of the serotonergic system to the diagnostic features of autism spectrum disorder (ASD). Discovery of severe fetal brainstem auditory system neuronal deficits and other anomalies leading to a spectrum of hearing deficits contributing to a cascade of behavioral alterations, including deficits of social and verbal communication in individuals with autism, is another argument to intensify postmortem studies of the type and topography of, and the severity of developmental defects in raphe nuclei and their contribution to abnormal brain development and to the broad spectrum of functional deficits and comorbid conditions in ASD.

Lien vers le texte intégral (Open Access ou abonnement)

23. Wu J, Zhang J, Chen X, Wettschurack K, Que Z, Deming BA, Olivero-Acosta MI, Cui N, Eaton M, Zhao Y, Li SM, Suzuki M, Chen I, Xiao T, Halurkar MS, Mandal P, Yuan C, Xu R, Koss WA, Du D, Chen F, Wu LJ, Yang Y. Microglial over-pruning of synapses during development in autism-associated SCN2A-deficient mice and human cerebral organoids. Mol Psychiatry. 2024.

Autism spectrum disorder (ASD) is a major neurodevelopmental disorder affecting 1 in 36 children in the United States. While neurons have been the focus of understanding ASD, an altered neuro-immune response in the brain may be closely associated with ASD, and a neuro-immune interaction could play a role in the disease progression. As the resident immune cells of the brain, microglia regulate brain development and homeostasis via core functions including phagocytosis of synapses. While ASD has been traditionally considered a polygenic disorder, recent large-scale human genetic studies have identified SCN2A deficiency as a leading monogenic cause of ASD and intellectual disability. We generated a Scn2a-deficient mouse model, which displays major behavioral and neuronal phenotypes. However, the role of microglia in this disease model is unknown. Here, we reported that Scn2a-deficient mice have impaired learning and memory, accompanied by reduced synaptic transmission and lower spine density in neurons of the hippocampus. Microglia in Scn2a-deficient mice are partially activated, exerting excessive phagocytic pruning of post-synapses related to the complement C3 cascades during selective developmental stages. The ablation of microglia using PLX3397 partially restores synaptic transmission and spine density. To extend our findings from rodents to human cells, we established a microglia-incorporated human cerebral organoid model carrying an SCN2A protein-truncating mutation identified in children with ASD. We found that human microglia display increased elimination of post-synapse in cerebral organoids carrying the SCN2A mutation. Our study establishes a key role of microglia in multi-species autism-associated models of SCN2A deficiency from mouse to human cells.

Lien vers le texte intégral (Open Access ou abonnement)

24. Zhao Y, Zhang R, Zheng X. Socioeconomic disparities in education placement for children of primary school age with autism spectrum disorder in China. Biosci Trends. 2024; 18(1): 73-82.

Relatively little is known about education placements for children with autism spectrum disorder (ASD) in China. While disparities in ASD diagnoses and services for the population broadly are often documented, the presence and determinants of differences in the educational placement of ASD children are less studied and understood. By identifying who is likely to be in segregated settings, we can discern how to best support them and facilitate a possible transition to a less restrictive setting. This study describes four placements (regular schools, special schools, institutions, homes) and their influencing factors retrospectively in a large sample (n = 2,190) of Chinese primary school-aged children (6-12 years old). We divided ASD into severe and mild to moderate categories for analysis. Children with ASD were more likely to study in a regular school (48.60%), while 13.88% were in a special school. Children with severe ASD were placed in less regular settings than children with mild to moderate ASD. However, families with higher socioeconomic status (SES) were more likely to place their children in regular schools than lower SES families if their children experienced mild to moderate symptoms. Children with severe ASD were more likely to be placed in expensive institutions for families with higher SES than those with lower SES. SES disparities in educational placement existed and had two manifestations. It is important to characterize educational placements of students with ASD to determine the extent to which they are placed in general education settings, which are often the preferred placement.

Lien vers le texte intégral (Open Access ou abonnement)