1. Amin S, Ruban-Fell B, Newell I, Evans J, Vyas K, Nortvedt C, Chin RF. Treatment guidelines for rare, early-onset conditions associated with epileptic seizures: a literature review on Rett syndrome and tuberous sclerosis complex. Orphanet J Rare Dis;2024 (Feb 26);19(1):89.

BACKGROUND: Rett syndrome (RTT) and tuberous sclerosis complex (TSC) are two rare disorders presenting with a range of different epileptic seizures. Seizure management requires careful therapy selection, thereby necessitating development of high-quality treatment guidelines. This targeted literature review (TLR) aimed to characterise country-specific and international treatment guidelines available for pharmacological management of seizures in RTT and TSC. METHODS: A TLR was performed between 25-Jan and 11-Mar 2021. Manual searches of online rare disease and guideline databases, and websites of national heath technology assessment bodies were conducted for the following countries: Australia, Canada, France, Germany, Israel, Italy, Japan, Spain, Switzerland, UK, and US as defined by pre-specified eligibility criteria. Search terms were developed for each condition and translated into local languages where appropriate. Eligible publications were defined as guidelines/guidance reporting pharmacological management of seizures in patients with RTT and TSC. Guideline development methodology, geographical focus, author information and treatment recommendations were extracted from guidelines. An author map was generated using R version 3.5.1 to visualise extent of collaboration between authors. RESULTS: 24 total guidelines were included, of which three and six contained only recommendations for RTT and TSC, respectively (some provided recommendations for ≥ 1 condition). Guideline development processes were poorly described (50% [12 guidelines] had unclear/absent literature review methodologies); reported methodologies were variable, including systematic literature reviews (SLRs)/TLRs and varying levels of expert consultation. Most (83% [20/24]) were country-specific, with guideline authors predominantly publishing in contained national groups; four guidelines were classified as ‘International,’ linking author groups in the US, UK, Italy and France. High levels of heterogeneity were observed in the availability of treatment recommendations across indications, with 13 and 67 recommendations found for RTT and TSC, respectively. For RTT, all treatment recommendations were positive and sodium valproate had the highest number of positive recommendations (Khwaja, Sahin (2011) Curr Opin Pediatr 23(6):633-9). All TSC treatments (21 medications) received either exclusively negative (National Organization for Rare Disorders (2019)) or positive (Chu-Shore et al. (2010) Epilepsia 51(7):1236-41) recommendations; vigabatrin received the highest number of positive recommendations (Kaur, Christodoulou (2019)). CONCLUSIONS: This review highlights the need for the development of international high-quality and comprehensive consensus-based guidance for the management of seizures with pharmacological therapy in RTT and TSC. TRIAL REGISTRATION: Not applicable.

Lien vers le texte intégral (Open Access ou abonnement)

2. Barón-Mendoza I, Mejía-Hernández M, Hernández-Mercado K, Guzmán-Condado J, Zepeda A, González-Arenas A. Altered hippocampal neurogenesis in a mouse model of autism revealed by genetic polymorphisms and by atypical development of newborn neurons. Sci Rep;2024 (Feb 26);14(1):4608.

Individuals with autism spectrum disorder (ASD) often exhibit atypical hippocampal anatomy and connectivity throughout their lifespan, potentially linked to alterations in the neurogenic process within the hippocampus. In this study, we performed an in-silico analysis to identify single-nucleotide polymorphisms (SNPs) in genes relevant to adult neurogenesis in the C58/J model of idiopathic autism. We found coding non-synonymous (Cn) SNPs in 33 genes involved in the adult neurogenic process, as well as in 142 genes associated with the signature genetic profile of neural stem cells (NSC) and neural progenitors. Based on the potential alterations in adult neurogenesis predicted by the in-silico analysis, we evaluated the number and distribution of newborn neurons in the dentate gyrus (DG) of young adult C58/J mice. We found a reduced number of newborn cells in the whole DG, a higher proportion of early neuroblasts in the subgranular layer (SGZ), and a lower proportion of neuroblasts with morphological maturation signs in the granule cell layer (GCL) of the DG compared to C57BL/6J mice. The observed changes may be associated with a delay in the maturation trajectory of newborn neurons in the C58/J strain, linked to the Cn SNPs in genes involved in adult hippocampal neurogenesis.

Lien vers le texte intégral (Open Access ou abonnement)

3. de Lange S, Muller D, Dafkin C. Biomedical research on autism in low- and middle-income countries: Considerations from the South African context. Dev World Bioeth;2024 (Feb 26)

Autism Spectrum Disorder (ASD) is a neurodevelopmental condition characterized by social/communicative difficulties and perseverative behaviours. While research on autism has flourished recently, few studies have been conducted on the disorder in non-Western contexts. In low- and middle-income countries (LMICs), biomedical research on autism is required to better understand the needs of the population and to develop contextually appropriate interventions. However, autistic individuals are a vulnerable study population and LMICs present with various considerations. While the presentation of autism is heterogeneous, stigma is a common social consequence affecting research. Drawing specifically on the South African context, the ethical intersections of these issues are discussed, along with the limitations of the current informed consent process. Community engagement is recommended as an adjunct to informed consent to ensure that biomedical research is conducted in a more inclusive way. Practical pointers are provided for implementing systematic support for conducting community engagement alongside biomedical research.

Lien vers le texte intégral (Open Access ou abonnement)

4. Delehanty A, Lorio CM, Romano M, Brown JA, Woods JJ, Wetherby AM. Social Communication and Parent Verbal Responsiveness Across Interaction Contexts in Toddlers on the Autism Spectrum. Am J Speech Lang Pathol;2024 (Feb 26):1-17.

PURPOSE: Interactions with caregivers during the ordinary activities that occur as families go about their everyday lives are critical to supporting children’s acquisition of social communication and language skills. The purpose of this study was to examine child communication and parent verbal responsiveness across interaction contexts in 211 children (M(age) = 20 months) on the autism spectrum (n = 121), with developmental delay (n = 46), or with typical development (n = 44). METHOD: Families participated in up to eight activities during an hour-long, video-recorded home observation. We tested differences in the strength of associations between diagnostic group and interaction context using linear mixed-effects models, with child rate per minute of communication and proportions of parent follow-in comments and directives as outcome variables. Child communicative functions expressed across contexts were also examined. RESULTS: Children across groups communicated at significantly higher rates per minute during book sharing and play with people compared to other interaction contexts. Most child communication was for the function of joint attention during book sharing, for social interaction during play with people, and for behavior regulation during necessary activities such as family chores and meals. On average, parents of children responded using proportionally more follow-in comments during book sharing and play compared to necessary activities, during which parents used more follow-in directives. CONCLUSION: Results provide a glimpse into the dyadic communication that may occur within everyday activities at home, which supports the need for future intervention research and may aid clinicians seeking to identify activities that serve as important contexts for intervention.

Lien vers le texte intégral (Open Access ou abonnement)

5. Dunn JT, Guidotti A, Grayson DR. Behavioral and Molecular Characterization of Prenatal Stress Effects on the C57BL/6J Genetic Background for the Study of Autism Spectrum Disorder. eNeuro;2024 (Feb);11(2)

Stress-inducing events during pregnancy are associated with aberrant neurodevelopment resulting in adverse psychiatric outcomes, including autism spectrum disorder (ASD). While numerous preclinical models for the study of ASD are frequently generated using C57BL/6J mice, few studies have investigated the effects of prenatal stress on this genetic background. In the current manuscript, we stressed C57BL/6 dams during gestation and examined numerous behavioral and molecular endophenotypes in the adult male and female offspring to characterize the resultant phenotype as compared with offspring born from nonstressed (NS) dams. Adult mice born from prenatal restraint stressed (PRS) dams demonstrated reduced sociability and reciprocal social interaction along with increased marble burying behaviors relative to mice born from nonstressed control dams. Differential expression of genes related to excitatory and inhibitory neurotransmission was evaluated in the medial prefrontal cortex, amygdala, hippocampus, nucleus accumbens and caudate putamen via qRT-PCR. The male PRS mouse behavioral phenotype coincided with aberrant expression of glutamate and GABA marker genes (e.g., Grin1, Grin2b, Gls, Gat1, Reln) in neural substrates of social behavior. Rescue of the male PRS sociability deficit by a known antipsychotic with epigenetic properties (i.e., clozapine (5 mg/kg) + 18 hr washout) indicated possible epigenetic regulation of genes that govern sociability. Clozapine treatment increased the expression levels of genes involved in DNA methylation, histone methylation, and histone acetylation in the nucleus accumbens. Identification of etiology-specific mechanisms underlying clinically relevant behavioral phenotypes may ultimately provide novel therapeutic interventions for the treatment of psychiatric disorders including ASD.

Lien vers le texte intégral (Open Access ou abonnement)

6. Failla C, Chilà P, Vetrano N, Doria G, Scarcella I, Minutoli R, Gismondo S, Pioggia G, Marino F. From crisis to opportunity: integrating insights from COVID-19 into the autism research. Front Psychiatry;2024;15:1341737.

Lien vers le texte intégral (Open Access ou abonnement)

7. Hanzel M, Fernando K, Maloney SE, Gong S, Mätlik K, Zhao J, Pasolli HA, Heissel S, Dougherty JD, Hull C, Hatten ME. Mice lacking Astn2 have ASD-like behaviors and altered cerebellar circuit properties. bioRxiv;2024 (Feb 18)

Astrotactin 2 (ASTN2) is a transmembrane neuronal protein highly expressed in the cerebellum that functions in receptor trafficking and modulates cerebellar Purkinje cell (PC) synaptic activity. We recently reported a family with a paternally inherited intragenic ASTN2 duplication with a range of neurodevelopmental disorders, including autism spectrum disorder (ASD), learning difficulties, and speech and language delay. To provide a genetic model for the role of the cerebellum in ASD-related behaviors and study the role of ASTN2 in cerebellar circuit function, we generated global and PC-specific conditional Astn2 knockout (KO and cKO, respectively) mouse lines. Astn2 KO mice exhibit strong ASD-related behavioral phenotypes, including a marked decrease in separation-induced pup ultrasonic vocalization calls, hyperactivity and repetitive behaviors, altered social behaviors, and impaired cerebellar-dependent eyeblink conditioning. Hyperactivity and repetitive behaviors were also prominent in Astn2 cKO animals. By Golgi staining, Astn2 KO PCs have region-specific changes in dendritic spine density and filopodia numbers. Proteomic analysis of Astn2 KO cerebellum reveals a marked upregulation of ASTN2 family member, ASTN1, a neuron-glial adhesion protein. Immunohistochemistry and electron microscopy demonstrate a large increase in Bergmann glia volume in the molecular layer of Astn2 KO animals. Electrophysiological experiments indicate a reduced frequency of spontaneous excitatory postsynaptic currents (EPSCs), as well as increased amplitudes of both spontaneous EPSCs and inhibitory postsynaptic currents (IPSCs) in the Astn2 KO animals, suggesting that pre- and postsynaptic components of synaptic transmission are altered. Thus, ASTN2 regulates ASD-like behaviors and cerebellar circuit properties.

Lien vers le texte intégral (Open Access ou abonnement)

8. Mahmoud HK, Mourad GM, Zaki RA, Mohammed HS. Effect of counselling intervention on stress and expressed emotions among family caregivers of children with autism. J Med Life;2023 (Nov);16(11):1646-1651.

Parenting a child with autism represents an extraordinary challenge for families, resulting in prominent levels of stress and burden that subsequently affect their expressed emotions. This study aimed to evaluate the effect of counseling intervention on stress and expressed emotions among family caregivers of children with autism. The research used a pre-post interventional design, to evaluate 40 family caregivers of children with autism. The interviewing questionnaire assessed socio-demographic data, expressed emotions, and parenting stress, revealing that 57.5% of the evaluated family caregivers had severe stress pre-counseling, compared to 25% post-counseling intervention. Additionally, 80% of them had elevated levels of expressed emotions pre-counseling, compared to 32.5% during the post-counseling intervention. Most family caregivers of children with autism experienced significant levels of expressed emotions, and over half of them had severe levels of stress. However, these levels decreased following the implementation of the counseling interventions. Furthermore, there were highly statistically significant correlations between the total levels of expressed emotions and total stress levels among family caregivers before and after the implementation of the counseling intervention.

Lien vers le texte intégral (Open Access ou abonnement)

9. Marquardt MD, Gibbs D, Grossbach A, Keister A, Munjal V, Moranville R, Mallory N, Toop N, Dhaliwal J, Marquardt H, Xu D, Viljoen S. Impact of obesity on adult spinal deformity (ASD) long-segment spinal fusion radiographic and clinical outcomes. Clin Neurol Neurosurg;2024 (Feb 21);238:108187.

STUDY DESIGN: Retrospective chart review of patients receiving long-segment fusion during a five-year period. OBJECTIVE: To determine whether obese patients receive comparable benefits when receiving long-segment fusion compared to non-obese patients and to identify factors that may predict hardware failure and post-surgical complications among obese patients. METHODS: Demographic, spinopelvic radiographic, patient-reported outcome measures (PROMs), and complications data was retrospectively collected from 120 patients who underwent long-segment fusion during a five-year period at one tertiary care medical center. Radiographic measurements were pelvic incidence, pelvic tilt (PT), lumbar lordosis, L4-S1 lordosis, thoracic kyphosis, sagittal vertical axis, PI-LL mismatch, and proximal junction cobb angle at upper instrumented vertebrae + 2 (UIV+2). PROMs were Oswestry disability index, numeric rating scale (NRS) Back Pain, NRS Leg Pain, RAND SF-36 pain, and RAND SF-36 physical functioning. Included patients were adults and had at least 2-years of postoperative follow-up. Descriptive and multivariate statistical analysis was performed with α = 0.05. RESULTS: Patients with a BMI ≥ 30 (n=63) and patients with a BMI < 30 (n=57) demonstrated comparable improvements (P>0.05) for all spinopelvic radiographic measurements and PROMs. Each cohort demonstrated significant improvements from pre-assessment to post-assessment on nearly all spinopelvic radiographic measurements and PROMs (P<0.05), except PT and L4-S1 lordosis where neither group improved (p=0.95 and 0.58 for PT and P=0.23 and 0.11 for L4-S1 lordosis fornon-obese and obese cohorts respectively) and SF-36 physical functioning where the non-obese cohort not statistically improve (P=0.08). Patients with a BMI ≥ 30 demonstrated an increased incidence of cardiovascular complications (P=0.0293), acute kidney injury (P=0.0241), rod fractures (P=0.0293), and reoperations (P=0.0241) when compared to patients with a BMI < 30. CONCLUSION: This study adds to a growing body of evidence linking demographic factors with risks of hardware failure. Further, this data challenges the assumption that obese patients may not receive sufficient benefit to be long-segment surgical candidates. However, given their elevated risk for post-operative and delayed hardware complications, obese patients should be appropriately counseling before undergoing surgery.

Lien vers le texte intégral (Open Access ou abonnement)

10. Northrup JB, Cortez KB, Mazefsky CA, Iverson JM. Expression and co-regulation of negative emotion in 18-month-olds at increased likelihood for autism with diverse developmental outcomes. Autism;2024 (Feb 26):13623613241233664.

Managing negative emotion can be challenging for autistic individuals and their families from a young age. Parents help young children manage negative emotions by responding in comforting or supportive ways. Not much research has examined how negative emotions and parent responses to negative emotions are different in very young autistic children. This study used videotapes of 18-month-old toddlers and parents at home. We examined how much and how intensely toddlers expressed negative emotion in everyday situations, and how parents responded. Participants were younger siblings of autistic children, and we compared three groups-children that (1) later received an autism diagnosis; (2) had language delays but not autism; and (3) had no delays or autism. We found that autistic toddlers’ negative emotion was more likely to be intense and to continue once it started compared with children without delays or autism. Language-delayed toddlers also showed some, but not all these differences. Parents responded similarly to negative emotions in all groups. When parents used strategies to help, it reduced the chances of the negative emotions continuing, although it may have been less helpful for autistic toddlers. This study shows that autistic children may express more intense and long-lasting negative emotions from an early age. It also shows that parents of autistic children are very responsive to their children’s negative emotions, but these responses may not be as helpful to autistic children. While more research is needed, this study helps us understand how autistic toddlers may express and experience emotions differently.

Lien vers le texte intégral (Open Access ou abonnement)

11. O’Brien MJ, Pauls AM, Schieltz KM, McComas JJ, Ringdahl JE. Mand Modality Preference Assessments among High- and Low-Tech Options for Individuals with Intellectual and Developmental Disabilities: A Systematic Review. Behav Anal Pract;2024 (Mar);17(1):228-245.

The extant literature demonstrates that individuals with intellectual and developmental disabilities (IDD) exhibit preferences among communication modalities when multiple modalities are available and produce reinforcement on identical reinforcement schedules. High- and low-tech communication options, such as voice output devices and picture cards, are commonly recommended for individuals with limited vocal communication skills. In this study, we conducted a systematic literature review of research studies that implemented mand modality preference assessments (MMPAs) that included both a high- and low-tech communication option with individuals with IDD. We identified 27 studies meeting our inclusion criteria and summarized the participant demographics, MMPA design and procedural variations, and MMPA outcomes. The results suggested that high-tech communication options were generally more preferred over low-tech options. However, there was a high degree of variability in how the studies were conducted and conclusions were reached. We discuss some of the current research gaps and the implications for clinical practice.

Lien vers le texte intégral (Open Access ou abonnement)

12. Potter SN, Harvey D, Sterling A, Abbeduto L. Parental Responsivity and Child Communication During Mother-Child and Father-Child Interactions in Fragile X Syndrome. J Speech Lang Hear Res;2024 (Feb 26):1-21.

PURPOSE: Past research shows that parentally responsive behavior toward the child positively influences language development in both neurotypical children and children with intellectual and developmental disabilities, including those with fragile X syndrome (FXS); however, most studies have focused exclusively on the mother-child relationship. The current study examined relationships between parent behavior (i.e., responsivity and behavior management) and child language performance in both mother-child and father-child interactions, as well as relationships between child characteristics and both parent behavior and child language. METHOD: Participants were 23 families of young boys with FXS between 3 and 7 years of age. Mothers and fathers independently completed questionnaires assessing child characteristics and separately engaged in 12-min play-based interactions with their child via telehealth. One parent also completed a comprehensive interview assessing child adaptive behavior. Video recordings of the parent-child interactions were transcribed and coded for parent and child behavior, and measures of parent and child language were obtained from the transcripts. RESULTS: Mothers and fathers used similar rates of responsive behaviors during parent-child interactions, and parental responsivity was positively associated with some aspects of child language performance (i.e., talkativeness and lexical diversity). Parental behavior, however, was not associated with syntactic complexity. Older children and children with higher levels of adaptive behavior had parents who used higher rates of responsive behaviors. Fathers used higher rates of behavior management strategies compared to mothers, and this type of parent behavior was not associated with child language. CONCLUSION: Overall, this study provides evidence that interventions focused on increasing parental responsiveness would be beneficial for families of children with FXS and that these interventions should be delivered early given the association between responsivity and child age. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.25229939.

Lien vers le texte intégral (Open Access ou abonnement)

13. Santhakumar V, Subramanian D, Eisenberg C, Huang A, Baek J, Naveed H, Komatireddy S, Shiflett M, Tran T. Dysregulation of Neuropilin-2 Expression in Inhibitory Neurons Impairs Hippocampal Circuit Development Leading to Autism-Epilepsy Phenotype. Res Sq;2024 (Feb 9)

Dysregulation of development, migration, and function of interneurons, collectively termed interneuronopathies, have been proposed as a shared mechanism for autism spectrum disorders (ASDs) and childhood epilepsy. Neuropilin-2 (Nrp2), a candidate ASD gene, is a critical regulator of interneuron migration from the median ganglionic eminence (MGE) to the pallium, including the hippocampus. While clinical studies have identified Nrp2 polymorphisms in patients with ASD, whether dysregulation of Nrp2-dependent interneuron migration contributes to pathogenesis of ASD and epilepsy has not been tested. We tested the hypothesis that the lack of Nrp2 in MGE-derived interneuron precursors disrupts the excitation/inhibition balance in hippocampal circuits, thus predisposing the network to seizures and behavioral patterns associated with ASD. Embryonic deletion of Nrp2 during the developmental period for migration of MGE derived interneuron precursors (iCKO) significantly reduced parvalbumin, neuropeptide Y, and somatostatin positive neurons in the hippocampal CA1. Consequently, when compared to controls, the frequency of inhibitory synaptic currents in CA1 pyramidal cells was reduced while frequency of excitatory synaptic currents was increased in iCKO mice. Although passive and active membrane properties of CA1 pyramidal cells were unchanged, iCKO mice showed enhanced susceptibility to chemically evoked seizures. Moreover, iCKO mice exhibited selective behavioral deficits in both preference for social novelty and goal-directed learning, which are consistent with ASD-like phenotype. Together, our findings show that disruption of developmental Nrp2 regulation of interneuron circuit establishment, produces ASD-like behaviors and enhanced risk for epilepsy. These results support the developmental interneuronopathy hypothesis of ASD epilepsy comorbidity.

Lien vers le texte intégral (Open Access ou abonnement)

14. Shao M, Luo S, Qian H, Li X, Wei Z, Hong M, Wang J, Li X, Meng J. The relationship between autistic traits and the stress of social isolation: Development of an explanatory model. Heliyon;2024 (Feb 29);10(4):e26082.

BACKGROUND: Social isolation can be particularly challenging for individuals with high autistic traits who struggle with social interactions. The COVID-19 pandemic led to increased isolation, exacerbating stress for those who may have difficulty in connecting with others. This study aimed to explore the relationship between autistic traits and stress associated with social isolation. METHODS: A sample of 1597 Chinese adults completed measures of autistic traits, the stress of social isolation, psychological inflexibility and core self-evaluation, during an epidemic prevention and control period of COVID-19 in Chongqing, China. Measures included the Autism-Spectrum Quotient, Coronavirus Stress Measure, Acceptance and Action Questionnaire-II, and Core Self-Evaluation Scale. RESULTS: Autistic traits were positively correlated with the stress of social isolation, which was mediated by the chain effect of core self-evaluation and psychological inflexibility. individuals with high autistic traits reported significantly higher stress than individuals with low autistic traits. LIMITATIONS: This was a cross-sectional study, which limits causal inference. In addition, data were self-reported, which may cause methodological effects. Finally, this study was conducted during China’s quarantine policy and external validation of the findings is required. CONCLUSIONS: Autistic traits are positively associated with the stress of social isolation. Autistic traits affected core self-evaluation first, and psychological inflexibility subsequently, leading to the stress of social isolation. individuals with high autistic traits tended to experience higher levels of stress during pandemic quarantines. The findings provide useful evidence for developing interventions and implementing preventive measures to reduce stress in individuals with high autistic traits and autism spectrum disorder.

Lien vers le texte intégral (Open Access ou abonnement)

15. Sharma AR, Batra G, Dhir N, Jain A, Modi T, Saini L, Thakur N, Mishra A, Singh RS, Singh A, Singla R, Prakash A, Goyal M, Bhatia A, Medhi B, Modi M. « Comparative evaluation of different chemical agents induced Autism Spectrum Disorder in experimental Wistar rats ». Behav Brain Res;2024 (Feb 26);458:114728.

Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition with uncertain etiology and pathophysiology. Several studies revealed that the commonly used animal models like Valproic Acid (VPA) and Propionic Acid (PPA) do not precisely represent the disease as the human patient does. The current study was conducted on different chemically (VPA, PPA, Poly I:C, Dioxin (2,3,7,8-Tetrachlorodibenzo-p-dioxin (TCDD)) & Chlorpyrifos (CPF)) induced ASD-like animal models and validated the best suitable experimental animal model, which would closely resemble with clinical features of the ASD. This validated model might help to explore the pathophysiology of ASD. This study included rat pups prenatally exposed to VPA, PPA, Poly I:C, Dioxin & CPF within GD9 to GD15 doses. The model groups were validated through developmental and behavioral parameters, Gene Expressions, Oxidative Stress, and Pro-inflammatory and Anti-inflammatory cytokines levels. Developmental and neurobehavioral parameters showed significant changes in model groups compared to the control. In oxidative stress parameters and neuro-inflammatory cytokines levels, model groups exhibited high oxidative stress and neuro-inflammation compared to control groups. Gene expression profile of ASD-related genes showed significant downregulation in model groups compared to the control group. Moreover, the Poly I:C group showed more significant results than other model groups. The comparison of available ASD-like experimental animal models showed that the Poly I:C induced model represented the exact pathophysiology of ASD as the human patient does. Poly I:C was reported in the maternal immune system activation via the inflammatory cytokines pathway, altering embryonic development and causing ASD in neonates.

Lien vers le texte intégral (Open Access ou abonnement)

16. Su PL, Yoo H, Ramsay G, Long HL, Bene ER, Klaiman C, Pulver SL, Richardson S, Pileggi ML, Brane N, Oller DK. Foundations of Vocal Category Development in Autistic Infants. J Autism Dev Disord;2024 (Feb 25)

The present study compared the infant’s tendency in the first year of life to produce clusters of particular vocal types (squeals, vocants, and growls) in typically developing (TD) and autistic infants. Vocal clustering provides evidence of vocal category formation and may establish a foundation for speech development. Specifically, we compared the extent of vocal clustering across outcome groups and age groups. We also examined the associations between the extent of vocal clustering and later outcomes at 2 years within the autistic group. Randomly selected 5-min segments (27,153 5-min segments total) from 1293 all-day home recordings from 103 TD infants and 44 autistic infants across the first year were humancoded (about 9.75 h of data coded per infant on average) to derive vocal clustering patterns. Fisher’s exact tests were used to compare the occurrence of squeals versus vocants, as well as growls versus vocants, across coded segments. Infants in both groups demonstrated clear clustering patterns of squeals and growls across all age groups. The extent of vocal clustering in the autistic group did not correlate significantly with later language, repetitive behavior, or autism severity outcomes. These findings highlight the robustness of the systematic production of vocal categories across the first year of life. The similarity of the clustering patterns in the TD and autistic groups suggests that vocal category formation through active infant vocal exploration is a robust feature of early speech development.

Lien vers le texte intégral (Open Access ou abonnement)

17. Suvarna V, Farrell L, Adams D, Emerson LM, Paynter J. Parenting Practices and Externalizing Behaviors in Autistic Children: A Systematic Literature Review. Clin Child Fam Psychol Rev;2024 (Feb 26)

There is limited recent research on the association between parenting practices and externalizing behaviors in autistic children. To address this gap, the current systematic review examined the associations between parenting practices and externalizing behaviors in autistic children, along with the mediating and moderating effects of parent and child variables (PROSPERO registration number CRD42022268667). Study inclusion criteria were (1) Peer-reviewed journals, (2) Participants included parents of autistic children and their children, (3) Quantitative measures of both parenting practices or behaviors/style and child externalizing behaviors, (4) Cross-sectional or longitudinal studies only, and (5) Studies published in English. Study exclusion criteria were: (1) Qualitative studies, (2) Published in a language other than English, (3) Participants included non-human participants, (4) Participants that did not include parents and their autistic children as participants or did not report this group separately, (5) Systematic review and meta-analyses, and (6) No quantitative measures of parenting practices and/or child externalizing behaviors. Quality appraisal and risk of bias were conducted using the McMaster Tool and results were synthesized in Covidence and Excel. Thirty studies were included in the review. Results demonstrated that mindful parenting was associated with fewer or lower levels of externalizing behaviors; positive parenting practices had non-significant associations with externalizing behaviors; specific parenting practices had differing associations with externalizing behaviors; and negative parenting practices were associated with higher levels of externalizing behaviors. We are unable to draw causal relationships due to focus on cross-sectional and longitudinal articles only. The potential for future research to target specific parent practices to support children’s externalizing behaviors is discussed.

Lien vers le texte intégral (Open Access ou abonnement)

18. Tian Y, Xiao X, Liu W, Cheng S, Qian N, Wang L, Liu Y, Ai R, Zhu X. TREM2 improves microglia function and synaptic development in autism spectrum disorders by regulating P38 MAPK signaling pathway. Mol Brain;2024 (Feb 26);17(1):12.

BACKGROUND: Autism spectrum disorder (ASD) encompasses a diverse range of neurodevelopmental disorders, but the precise underlying pathogenesis remains elusive. This study aim to explore the potential mechanism of TREM2 in regulating microglia function in ASD. MATERIALS AND METHODS: The offspring rat model of ASD was established through prenatal exposure to valproic acid (VPA), and the behavioral symptoms of the ASD model were observed. On postnatal day (PND) 7 and PND 28, the effects of prenatally exposure to VPA on synaptic development and microglia phenotype of offspring rats were observed. Primary microglia were cultured in vitro. Lentivirus and adenovirus were utilized to interfere with TREM2 and overexpress TREM2. RESULTS: Prenatally VPA exposure induced offspring rats to show typical ASD core symptoms, which led to abnormal expression of synapse-related proteins in the prefrontal cortex of offspring rats, changed the phenotype of microglia in offspring rats, promoted the polarization of microglia to pro-inflammatory type, and increased inflammatory response. The experimental results in vitro showed that overexpression of TREM2 could increase the expression of Gephyrin, decrease the content of CD86 protein and increase the content of CD206 protein. In addition, after the expression of TREM2 was interfered, the content of p-P38 MAPK protein increased and the content of p-ELK-1 protein decreased. CONCLUSION: The protective influence of TREM2 on the VPA-induced ASD model is attributed to its inhibition of the P38 MAPK pathway, this protective effect may be achieved by promoting the polarization of microglia to anti-inflammatory phenotype and improving the neuronal synaptic development.

Lien vers le texte intégral (Open Access ou abonnement)

19. Valizadeh A, Moassefi M, Nakhostin-Ansari A, Heidari Some’eh S, Hosseini-Asl H, Saghab Torbati M, Aghajani R, Maleki Ghorbani Z, Menbari-Oskouie I, Aghajani F, Mirzamohamadi A, Ghafouri M, Faghani S, Memari AH. Automated diagnosis of autism with artificial intelligence: State of the art. Rev Neurosci;2024 (Feb 26);35(2):141-163.

Autism spectrum disorder (ASD) represents a panel of conditions that begin during the developmental period and result in impairments of personal, social, academic, or occupational functioning. Early diagnosis is directly related to a better prognosis. Unfortunately, the diagnosis of ASD requires a long and exhausting subjective process. We aimed to review the state of the art for automated autism diagnosis and recognition in this research. In February 2022, we searched multiple databases and sources of gray literature for eligible studies. We used an adapted version of the QUADAS-2 tool to assess the risk of bias in the studies. A brief report of the methods and results of each study is presented. Data were synthesized for each modality separately using the Split Component Synthesis (SCS) method. We assessed heterogeneity using the I (2) statistics and evaluated publication bias using trim and fill tests combined with ln DOR. Confidence in cumulative evidence was assessed using the GRADE approach for diagnostic studies. We included 344 studies from 186,020 participants (51,129 are estimated to be unique) for nine different modalities in this review, from which 232 reported sufficient data for meta-analysis. The area under the curve was in the range of 0.71-0.90 for all the modalities. The studies on EEG data provided the best accuracy, with the area under the curve ranging between 0.85 and 0.93. We found that the literature is rife with bias and methodological/reporting flaws. Recommendations are provided for future research to provide better studies and fill in the current knowledge gaps.

Lien vers le texte intégral (Open Access ou abonnement)

20. Windarwati HD, Lestari R, Hidayah R, Hasan H, Ati NAL, Kusumawati MW, Selena IN, Dumar B, Rahayu G. Institutional and family support impact on health-related quality of life of children with autism spectrum disorders during the COVID-19 pandemic. J Child Adolesc Psychiatr Nurs;2024 (Feb);37(1):e12450.

PROBLEMS: Children with autism spectrum disorder (ASD) tend to have a notably poorer quality of life than the general population, especially during the COVID-19 pandemic. This study aimed to analyze the association between institutional support and family support on the health-related quality of life (HRQoL) of children with ASD during the COVID-19 pandemic. METHODS: A cross-sectional study was conducted in October 2022 in a School for Special Needs in Malang City, East Java Province, Indonesia. The pediatric quality of life inventory (PedsQL) and Institutional and Family Support questionnaire were used to measure the HRQoL and support perceived by parents of children with ASD. We analyzed each component of the PedsQL and the Institutional and Family Support questionnaire. The independent T-test was performed to analyze the association between HRQoL and perceived support by parents of children with ASD. FINDINGS: The results showed that most participants (72.7%) were women aged 40. As many as 69.39% of participants had more than one child, and 16.33% declared they had other children who experienced the same problem (special needs children). This study indicated that the average health-related quality of life score in children with ASD was 57.41 (9.418). The finding of this study showed a significant mean difference in HRQoL scores in children with ASD who received high institutional and family support compared to those who had low (p = 0.028, 95% confidence interval [CI] = -11.071 to 0.664). CONCLUSION: Institutional support positively impacts children with ASD’s quality of life. Therefore, it is essential to improve the adequacy of support felt by families while caring for children with ASD.

Lien vers le texte intégral (Open Access ou abonnement)

21. Wu R, Hamilton AFC, White SJ. Can group membership modulate the social abilities of autistic people? An intergroup bias in smile perception. Cortex;2024 (Feb 13);173:150-160.

Autistic adults struggle to reliably differentiate genuine and posed smiles. Intergroup bias is a promising factor that may modulate smile discrimination performance, which has been shown in neurotypical adults, and which could highlight ways to make social interactions easier. However, it is not clear whether this bias also exists in autistic people. Thus, the current study aimed to investigate this in autism using a minimal group paradigm. Seventy-five autistic and sixty-one non-autistic adults viewed videos of people making genuine or posed smiles and were informed (falsely) that some of the actors were from an in-group and others were from an out-group. The ability to identify smile authenticity of in-group and out-group members and group identification were assessed. Our results revealed that both groups seemed equally susceptible to ingroup favouritism, rating ingroup members as more genuine, but autistic adults also generally rated smiles as less genuine and were less likely to identify with ingroup members. Autistic adults showed reduced sensitivity to the different smile types but the absence of an intergroup bias in smile discrimination in both groups seems to indicate that membership can only modulate social judgements but not social abilities. These findings suggest a reconsideration of past findings that might have misrepresented the social judgements of autistic people through introducing an outgroup disadvantage, but also a need for tailored support for autistic social differences that emphasizes similarity and inclusion between diverse people.

Lien vers le texte intégral (Open Access ou abonnement)

22. Wu R, Leow K, Yu N, Rafter C, Rosenbaum K, A FdCH, White SJ. Evaluative contexts facilitate implicit mentalizing: relation to the broader autism phenotype and mental health. Sci Rep;2024 (Feb 26);14(1):4697.

One promising account for autism is implicit mentalizing difficulties. However, this account and even the existence of implicit mentalizing have been challenged because the replication results are mixed. Those unsuccessful replications may be due to the task contexts not being sufficiently evaluative. Therefore, the current study developed a more evaluative paradigm by implementing a prompt question. This was assessed in 60 non-autistic adults and compared with a non-prompt version. Additionally, parents of autistic children are thought to show a genetic liability to autistic traits and cognition and often report mental health problems, but the broader autism phenotype (BAP) is an under-researched area. Thus, we also aimed to compare 33 BAP and 26 non-BAP mothers on mentalizing abilities, autistic traits, compensation and mental health. Our results revealed that more evaluative contexts can facilitate implicit mentalizing in BAP and non-BAP populations, and thus improve task reliability and replicability. Surprisingly, BAP mothers showed better implicit mentalizing but worse mental health than non-BAP mothers, which indicates the heterogeneity in the broader autism phenotype and the need to promote BAP mothers’ psychological resilience. The findings underscore the importance of contexts for implicit mentalizing and the need to profile mentalizing and mental health in BAP parents.

Lien vers le texte intégral (Open Access ou abonnement)

23. Xue Y, Dong HY, Feng JY, Bai MS, Li D, Yang H, Jia FY. Parent-child interaction related to brain functional alterations and development outcomes in autism spectrum disorder: A study based on resting state-fMRI. Res Dev Disabil;2024 (Feb 24);147:104701.

BACKGROUND: Limited study has investigated the influence of parent-child interaction on brain functional alterations and development outcomes of autism spectrum disorder (ASD) children. This pilot study aimed to explore the relationship between parent-child interaction, brain functional activities and development outcomes of ASD children. METHODS: and Procedures: 653 ASD with an average age of 41.06 ± 10.88 months and 102 typically developmental (TD) children with an average age of 44.35 ± 18.39 months were enrolled in this study, of whom 155 ASD completed brain rs-fMRI scans. The amplitude of low-frequency fluctuations (ALFF) and regional homogeneity (ReHo) measured using resting-state functional magnetic resonance imaging (rs-fMRI) data reflect local brain function. The parent-child interaction was assessed by the Chinese Parent-child Interaction Scale (CPCIS). Childhood Autism Rating Scale (CARS) and developmental quotient (DQ) indicated development outcomes. OUTCOMES AND RESULTS: Total CPCIS score was negatively correlated with CARS total score, and positively correlated with DQ. The frequency of parent-child interaction was negatively correlated with ALFF values in the left median cingulate and paracingulate gyri (DCG.L) and ReHo values in the right superior frontal gyrus, medial (SFGmed.R)(P < 0.05, FDR correction). ALFF values in the DCG.L and ReHo values in the SFGmed.R play complete mediating roles in the relationship between parent-child interaction and performance DQ. CONCLUSION AND IMPLICATIONS: This study suggest that parent-child interaction has an impact on autistic characteristics and DQ of ASD children. Local brain regions with functional abnormalities in the DCG.L and SFGmed.R may be a crucial factors affecting the performance development of ASD children with reduced parent-child interaction.

Lien vers le texte intégral (Open Access ou abonnement)

24. Yamamoto S, Isawa S. Teaching Social Niceties to Individuals with Autism Spectrum Disorder Using the Textual Prompt. Behav Anal Pract;2024 (Mar);17(1):296-305.

This study examines the effectiveness of textual prompts in acquiring social niceties in the workplace for five individuals with autism spectrum disorder. Based on the results of this study, resource- and time-efficiency interventions are discussed. The participants were taught two statements: « Do you have a minute? » and « Thank you for your time. » The participants worked in a simulation setting simulating the workplace. When an opportunity for interaction with an actor acting as a supervisor or colleague was provided to the participants, they were required to use social niceties before and after the interaction. During the training, the participants were presented with a textual prompt to use social niceties. As a result, most participants were able to use social niceties compared to the baseline. However, the percentage of correct responses was not stable, and the results did not show that the participants had fully acquired social niceties. A comparison of the results of the previous study with the results of this study indicates that it is difficult to obtain sufficient efficacy from interventions using only the textual prompt.

Lien vers le texte intégral (Open Access ou abonnement)

25. Zhan L, Gao Y, Huang L, Zhang H, Huang G, Wang Y, Sun J, Xie Z, Li M, Jia X, Cheng L, Yu Y. Brain functional connectivity alterations of Wernicke’s area in individuals with autism spectrum conditions in multi-frequency bands: A mega-analysis. Heliyon;2024 (Feb 29);10(4):e26198.

Characterized by severe deficits in communication, most individuals with autism spectrum conditions (ASC) experience significant language dysfunctions, thereby impacting their overall quality of life. Wernicke’s area, a classical and traditional brain region associated with language processing, plays a substantial role in the manifestation of language impairments. The current study carried out a mega-analysis to attain a comprehensive understanding of the neural mechanisms underpinning ASC, particularly in the context of language processing. The study employed the Autism Brain Image Data Exchange (ABIDE) dataset, which encompasses data from 443 typically developing (TD) individuals and 362 individuals with ASC. The objective was to detect abnormal functional connectivity (FC) between Wernicke’s area and other language-related functional regions, and identify frequency-specific altered FC using Wernicke’s area as the seed region in ASC. The findings revealed that increased FC in individuals with ASC has frequency-specific characteristics. Further, in the conventional frequency band (0.01-0.08 Hz), individuals with ASC exhibited increased FC between Wernicke’s area and the right thalamus compared with TD individuals. In the slow-5 frequency band (0.01-0.027 Hz), increased FC values were observed in the left cerebellum Crus II and the right lenticular nucleus, pallidum. These results provide novel insights into the potential neural mechanisms underlying communication deficits in ASC from the perspective of language impairments.

Lien vers le texte intégral (Open Access ou abonnement)

26. Zhang L, Wan ZX, Zhu JY, Liu HJ, Sun J, Zou XH, Zhang T, Li Y. A Girl with PRRT2 Mutation Presenting with Benign Familial Infantile Seizures Followed by Autistic Regression. Case Rep Pediatr;2024;2024:5539799.

Benign familial infantile seizure (BFIS) is an autosomal dominant infantile-onset epilepsy syndrome with a typically benign prognosis. It is commonly associated with heterozygous mutations of the PRRT2 gene located on chromosome 16p11.2. The frameshift heterozygous mutation (c.649dupC, p.Arg217Profs(∗)8) in PRRT2 is responsible for the majority of BFIS cases. In this report, we present a rare case of a girl with a confirmed clinical and genetic diagnosis of BFIS due to a frameshift heterozygous mutation in PRRT2 (c.649dupC). She exhibited typical neurodevelopment until 15 months of age, followed by an unexpected severe autistic regression. In addition to BFIS, PRRT2 mutations are also associated with paroxysmal kinesigenic dyskinesia (PKD) and infantile convulsions and paroxysmal choreoathetosis (ICCA), indicating a complex genotype-phenotype heterogeneity in PRRT2 mutations. This clinical observation highlights the possibility that BFIS patients with PRRT2 mutations may not always have a benign neurodevelopmental prognosis, emphasizing the need for long-term clinical follow-up.

Lien vers le texte intégral (Open Access ou abonnement)