1. Bhandari K, Kanodia H, Donato F, Caroni P. Selective vulnerability of the ventral hippocampus-prelimbic cortex axis parvalbumin interneuron network underlies learning deficits of fragile X mice. Cell Rep. 2024; 43(5): 114124.

High-penetrance mutations affecting mental health can involve genes ubiquitously expressed in the brain. Whether the specific patterns of dysfunctions result from ubiquitous circuit deficits or might reflect selective vulnerabilities of targetable subnetworks has remained unclear. Here, we determine how loss of ubiquitously expressed fragile X mental retardation protein (FMRP), the cause of fragile X syndrome, affects brain networks in Fmr1y/- mice. We find that in wild-type mice, area-specific knockout of FMRP in the adult mimics behavioral consequences of area-specific silencing. By contrast, the functional axis linking the ventral hippocampus (vH) to the prelimbic cortex (PreL) is selectively affected in constitutive Fmr1y/- mice. A chronic alteration in late-born parvalbumin interneuron networks across the vH-PreL axis rescued by VIP signaling specifically accounts for deficits in vH-PreL theta-band network coherence, ensemble assembly, and learning functions of Fmr1y/- mice. Therefore, vH-PreL axis function exhibits a selective vulnerability to loss of FMRP in the vH or PreL, leading to learning and memory dysfunctions in fragile X mice.

Lien vers le texte intégral (Open Access ou abonnement)

2. Bogenschutz M, Johnson KR, Hall S, Lineberry S, Rand J, Rossetti Z, Shikarpurya S, Ticha R. An Equity-Based Research Agenda to Promote Social Inclusion and Belonging for People With IDD. Intellect Dev Disabil. 2024; 62(3): 186-99.

Having a sense of social inclusion and belonging, typically characterized by our personal relationships and community participation, is the central essence of life for most people, yet it remains elusive for many people with intellectual and developmental disabilities (IDD). This article summarizes the work of a diverse group of researchers and advocates to propose 6 big-picture, equity-based goals to drive future research in the field: (1) understanding the role of intersectionality, (2) understanding intimate relationships, (3) promoting formation of communities of care to support social inclusion, (4) understanding life course trajectories of social inclusion, (5) understanding social inclusion in virtual spaces, and (6) understanding how to promote social inclusion in the entire research process.

Lien vers le texte intégral (Open Access ou abonnement)

3. Butterworth J, Winsor JE, Kamau E, Migliore A, Mahoehney D. The State of Employment for People With IDD: Implications for Practice, Policy, and Equity. Intellect Dev Disabil. 2024; 62(3): 225-40.

Meaningful progress in improving employment outcomes for people with intellectual and developmental disabilities continues to be elusive, despite 40 years of investment in research, policy, and supports. This article reviews the current state of employment for individuals with intellectual and developmental disabilities (IDD) and describes policy, practice, and individual factors that influence employment outcomes. Research suggests the need for a holistic approach to change that addresses systems-level strategy, policy, and fiscal investment while strengthening individual experiences with employment and related day services. Recommendations address strengthening the implementation of employment policy, developing pathways to employment, and engaging individuals with IDD and, in particular, individuals with diverse social characteristics in reflecting on the quality of their experiences and supports.

Lien vers le texte intégral (Open Access ou abonnement)

4. Chen A, Wang M, Dong B. No effect of autistic traits on social attention: evidence based on single-cue and conflicting-cues scenarios. BMC Psychol. 2024; 12(1): 295.

Individuals often use others’ gaze and head directions to direct their attention. To investigate the influence of autistic traits on social attention, we conducted two experiments comparing groups with high and low autistic traits in single-cue (Experiment 1) and conflicting-cue (Experiment 2) scenarios. Our findings indicate that individuals responded more rapidly to the direction of a single social cue or the consensus of multiple cues. However, we did not observe significant differences in social attention between individuals with high and low autistic traits. Notably, as the stimulus onset asynchrony (SOA) increased, individuals with low autistic traits exhibited greater improvements in reaction speed compared to those with high autistic traits. This suggests that individuals with low autistic traits excel at leveraging temporal information to optimize their behavioral readiness over time, hinting at potential variations in cognitive flexibility related to autistic traits.

Lien vers le texte intégral (Open Access ou abonnement)

5. Cordone V. BIOCHEMICAL AND MOLECULAR DETERMINANTS OF THE SUBCLINICAL INFLAMMATORY MECHANISMS IN RETT SYNDROME. Arch Biochem Biophys. 2024: 110046.

To date, Rett syndrome (RTT), a genetic disorder mainly caused by mutations in the X-linked MECP2 gene, is increasingly considered a broad-spectrum pathology, instead of just a neurodevelopmental disease, due to the multitude of peripheral co-morbidities and the compromised metabolic pathways, affecting the patients. The altered molecular processes include an impaired mitochondrial function, a perturbed redox homeostasis, a chronic subclinical inflammation and an improper cholesterol metabolism. The persistent subclinical inflammatory condition was first defined ten years ago, as a previously unrecognized feature of RTT, playing a role in the pathology progress and modulation of phenotypical severity. In light of this, the present work aims at reviewing the current knowledge on the chronic inflammatory status and the altered immune/inflammatory functions in RTT, as well as investigating the emerging mechanisms underlying this condition with a special focus on the latest findings about inflammasome system, autoimmunity responses and intestinal micro- and mycobiota. On these bases, although further research is needed, future therapeutic strategies able to re-establish an adequate immune/inflammatory response could represent potential approaches for RTT patients.

Lien vers le texte intégral (Open Access ou abonnement)

6. Ding C, Zhou W, Shi Y, Shan S, Yuan Y, Zhang Y, Li F, Qiu Z. Srcap haploinsufficiency induced autistic-like behaviors in mice through disruption of Satb2 expression. Cell Rep. 2024; 43(5): 114231.

Mutations in the SRCAP gene are among the genetic alterations identified in autism spectrum disorders (ASD). However, the pathogenic mechanisms remain unclear. In this study, we demonstrate that Srcap(+/-) mice manifest deficits in social novelty response, as well as increased repetitive behaviors, anxiety, and impairments in learning and memory. Notably, a reduction in parvalbumin-positive neurons is observed in the retrosplenial cortex (RSC) and dentate gyrus (DG) of these mice. Through RNA sequencing, we identify dysregulation in 27 ASD-related genes in Srcap(+/-) mice. Specifically, we find that Srcap regulates expression of Satb2 via H2A.z in the promoter. Therapeutic intervention via retro-orbital injection of adeno-associated virus (AAV)-Satb2 in neonatal Srcap(+/-) mice leads to amelioration of the neurodevelopmental and ASD-like abnormalities. Furthermore, the expression of Satb2 only in the RSC of adolescent mice rectifies social novelty impairments. These results underscore the pivotal role of Srcap in neurodevelopment, by regulating Satb2, providing valuable insights for the pathophysiology of ASD.

Lien vers le texte intégral (Open Access ou abonnement)

7. Fannin DK, Williams EG, Fuller M, Pearson JN, Boyd BA, Drame ER, Taylor J, Dickerson AS, Spinks-Franklin A, Coles-White J. Unpacking the prevalence: A warning against overstating the recently narrowed gap for Black autistic youth. Autism Res. 2024.

Recent findings from the Centers for Disease Control and Prevention’s (CDC) Autism and Developmental Disabilities Monitoring (ADDM) Network’s 2020 prevalence report indicate that disparities in autism diagnoses between Black and White youth have narrowed, reflecting improved screening, awareness, and access to services (Maenner et al., 2023. Morbidity and Mortality Weekly Report. Surveillance Summaries (Washington, D.C.: 2002), 72, 1-14.). Claims of reducing disparities beyond prevalence rates, however, are not fully supported, as indicated by the reality that Black youth whose screenings indicate autistic traits are still not being referred for full evaluation or early intervention services at the same rate as their White peers (Major et al., 2020. Autism, 24, 1629-1638; Smith et al., 2020. Pediatrics, 145, S35-S46.). Black 8-year-olds identified as autistic still experience disparate educational placements (Waitoller et al., 2010. The Journal of Special Education. 44, 29-49.) where services may not be autism-specific or have Individual Education Plan goals only focused on « behavior problems » (Severini et al., 2018. Journal of Autism and Developmental Disorders, 48, 3261-3272.), are served in the most restrictive environments (Skiba et al., 2006. Exceptional Children, 72, 411-424.) and lack consistent augmentative and alternative communication support (Pope et al., 2022. American Journal of Speech-Language Pathology, 31, 2159-2174.). Additionally, ADMM researchers report consistent disparities in the identification of co-occurring intellectual disability where Black autistic children have significantly more co-occurrences than White autistic children. The purpose of this commentary is to first examine the assertion that the narrowed gap indicates, « …improved…access to services among historically underserved groups, » (p. 9) (Maenner et al., 2023. Morbidity and Mortality Weekly Report. Surveillance Summaries (Washington, D.C.: 2002), 72, 1-14.). We will then recommend strategies to address the ongoing disparities.

Lien vers le texte intégral (Open Access ou abonnement)

8. Gacek M, Smoleń T, Krzywoszański Ł, Bartecka-Śmietana A, Kulasek-Filip B, Piotrowska M, Sepielak D, Supernak K. Effects of School-Based Neurofeedback Training on Attention in Students with Autism and Intellectual Disabilities. J Autism Dev Disord. 2024.

In this study we aimed to assess the influence of school-based neurofeedback training on the attention of students with autism and intellectual disabilities. We assessed 24 students of a special education center who attended neurofeedback training sessions during the schoolyear; we also assessed 25 controls from the same center. We used two computer tasks to assess sustained attention in simple and cognitively demanding test situations, and we used a pen-and-paper task to assess selective attention. Each student who took part in the study was tested at the beginning and at the end of the schoolyear. Students from the experimental group significantly improved their performance in the task related to sustained attention to simple stimuli. No performance improvement related to neurofeedback treatment was observed in either sustained attention in cognitively demanding situations or selective attention. School-based neurofeedback training may improve sustained attention to simple stimuli in students with developmental disabilities.

Lien vers le texte intégral (Open Access ou abonnement)

9. Hu YY, Tian GC, Liu M, Wang H. [Advances in Mendelian randomization studies on autism spectrum disorder]. Zhongguo Dang Dai Er Ke Za Zhi. 2024; 26(5): 535-40.

Autism spectrum disorder (ASD) is a pervasive neurodevelopmental disorder with onset in infancy or early childhood. Mendelian randomization (MR) is a statistical method used to infer causal relationships between exposures and outcomes. This article summarizes MR studies related to ASD. Existing research supports a causal relationship between maternal inflammatory bowel disease in children with ASD, parental education levels, screen time exposure, obesity, insomnia, serum transferrin, decreased blood selenium, abnormal signals in brain functional MRI, interleukin-6, phosphodiesterase 2A, mitogen-activated protein kinase kinase 3, mitochondrial ribosomal protein L33, serotonin, and ASD. However, it does not support a causal relationship between parental rheumatoid arthritis, systemic lupus erythematosus, neonatal jaundice in children with ASD, cytomegalovirus infection, asthma, oral ulcers, vitamin D levels, and ASD. This article reviews the etiological factors related to ASD and MR studies, aiming to explore and deepen the understanding of the pathophysiology of ASD. It provides strong statistical support for the prevention, diagnosis, and treatment of ASD, and offers new methods and strategies for the etiological analysis of complex traits.

Lien vers le texte intégral (Open Access ou abonnement)

10. Jacinto M, Monteiro D, Rodrigues F, Diz S, Matos R, Amaro N, Antunes R. Gender Differences in Anthropometric, Functional Capacity Measures and Quality of Life in Individuals with Intellectual and Developmental Disabilities. J Funct Morphol Kinesiol. 2024; 9(2).

The aim of the of the current investigation was to investigate the possible differences concerning males and females in anthropometry, body composition, functional capacity, strength and quality of life variables. After obtaining signed informed consent, 37 participants (18 males; 19 females), with mean age of 39.08 and standard deviation of 11.66 years, voluntarily participated in this study. Anthropometry, body composition, functional capacity, strength, and quality of life were assessed using validated and reliable instruments and tests for this population. The males and females were compared using a Mann-Whitney U signed rank test. Significant differences were detected among the following variables, height (p = 0.028), body mass index (p = 0.033), fat mass (p = 0.002), muscle mass (p ≤ 0.001), phase angle (p = 0.005), medicine ball throwing strength (p = 0.010), and peak toque left knee (p = 0.028), with males showing better results in all the variables. The sample in this study showed differences in the anthropometric, composition, and strength variables. Studying this population can help ensure that everyone has equal access to services and adequate support for their personal needs, improving their quality of life.

Lien vers le texte intégral (Open Access ou abonnement)

11. Lahti-Anderson L, Kardell Y, Hall S, Magaña S, Reynolds M, Córdova J. A Research Agenda to Support Families of People With Intellectual and Developmental Disabilities With Intersectional Identities. Intellect Dev Disabil. 2024; 62(3): 162-73.

Family members provide significant practical and emotional support to people with intellectual and developmental disabilities (IDD) across the lifespan. In September 2022, the State of the Science Conference on Community Living: Engaging Persons With Intellectual and Developmental Disabilities From Underserved Racial, Ethnic, Linguistic, and Cultural Groups in Research was held. This article summarizes the efforts of the workgroup that developed research goals related to supporting families of people with IDD. The focus was on families with intersectional identities and minoritized communities. Recommended areas of future research include exploratory research to better understand the experiences of these families, perspectives of families with intersectional identities about the formal support system, funding for family support and services, and inclusive research strategies.

Lien vers le texte intégral (Open Access ou abonnement)

12. Larson SA, Caldwell J, Robinson G, Oteman Q. Housing and Long-Term Services and Supports for People With Intellectual or Developmental Disabilities From Racially and Culturally Minoritized Communities. Intellect Dev Disabil. 2024; 62(3): 200-10.

This article describes research on the places people with intellectual and developmental disabilities (IDD) live and disparities in housing and long-term services and supports (LTSS) outcomes for people with IDD from racially and culturally minoritized groups. It also summarizes the conclusions and recommendations of the Housing and Long-Term Services and Supports strand of the 2022 State of the Science Conference on the Intersection of Diversity, Equity and Inclusion and Supports and Services for People with IDD, identifies limitations of the available research and recommends strategies to improve research, knowledge translation, and practices.

Lien vers le texte intégral (Open Access ou abonnement)

13. Laws CB, Hewitt A, Boamah DA, Hiersteiner D, Kramme JED, Reagan J. Direct Support Professionals: Diversity, Disparities, and Deepening Crisis. Intellect Dev Disabil. 2024; 62(3): 174-85.

In the United States, direct support professionals (DSPs) support people with intellectual and developmental disabilities (IDD) so they can live in the community. Thirty years of deinstitutionalization and the development of community living options would not have been possible without DSPs. Although life for people with IDD improved greatly, working conditions, wages/benefits, demands, stress/burnout, and trauma experienced by DSPs have worsened. Turnover and vacancy rates threaten the availability of community supports for too many people with IDD. DSPs from diverse racial, ethnic, linguistic, and cultural backgrounds face significant workplace disparities. These issues were discussed during the Research and Training Center on Community Living’s 2022 State of the Science Conference. We propose important research questions needing solutions to continue constructively addressing these critical issues.

Lien vers le texte intégral (Open Access ou abonnement)

14. Naddaf M. Autistic people three times more likely to develop Parkinson’s-like symptoms. Nature. 2024.

Lien vers le texte intégral (Open Access ou abonnement)

15. Noguchi J, Watanabe S, Oga T, Isoda R, Nakagaki K, Sakai K, Sumida K, Hoshino K, Saito K, Miyawaki I, Sugano E, Tomita H, Mizukami H, Watakabe A, Yamamori T, Ichinohe N. Altered projection-specific synaptic remodeling and its modification by oxytocin in an idiopathic autism marmoset model. Commun Biol. 2024; 7(1): 642.

Alterations in the experience-dependent and autonomous elaboration of neural circuits are assumed to underlie autism spectrum disorder (ASD), though it is unclear what synaptic traits are responsible. Here, utilizing a valproic acid-induced ASD marmoset model, which shares common molecular features with idiopathic ASD, we investigate changes in the structural dynamics of tuft dendrites of upper-layer pyramidal neurons and adjacent axons in the dorsomedial prefrontal cortex through two-photon microscopy. In model marmosets, dendritic spine turnover is upregulated, and spines are generated in clusters and survived more often than in control marmosets. Presynaptic boutons in local axons, but not in commissural long-range axons, demonstrate hyperdynamic turnover in model marmosets, suggesting alterations in projection-specific plasticity. Intriguingly, nasal oxytocin administration attenuates clustered spine emergence in model marmosets. Enhanced clustered spine generation, possibly unique to certain presynaptic partners, may be associated with ASD and be a potential therapeutic target.

Lien vers le texte intégral (Open Access ou abonnement)

16. Okoroafor F, Beattie H, Qiang Z, Yianni J. Fragile X-associated tremor/ataxia syndrome treated with multitarget deep brain stimulation. BMJ Case Rep. 2024; 17(5).

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a progressive hereditary neurodegenerative disorder which causes intention tremor and cerebellar ataxia. It typically affects the ageing population. Deep brain stimulation (DBS) is widely accepted in the treatment of common movement disorders and has been trialled in treating rare and complex neurodegenerative disorders. We report a case of a man in his 40s with a long history of tremor affecting his hands. MRI brain revealed high T2 signal in the middle cerebellar peduncles. Genetic testing revealed FMR1 premutation confirming the diagnosis of FXTAS. Subsequently, he was treated with multitarget DBS of the ventralis intermediate nucleus and ventralis oralis posterior nuclei bilaterally, with excellent neurological function at 9 years follow-up. This case suggests multitarget DBS for FXTAS with neurophysiology-guided DBS programming can provide excellent long-term tremor suppression in selected patients.

Lien vers le texte intégral (Open Access ou abonnement)

17. Oomen D, Wiersema JR, Orgs G, Cracco E. Top-down biological motion perception does not differ between adults scoring high versus low on autism traits. Biol Psychol. 2024; 190: 108820.

The perception of biological motion is an important social cognitive ability. Models of biological motion perception recognize two processes that contribute to the perception of biological motion: a bottom-up process that binds optic-flow patterns into a coherent percept of biological motion and a top-down process that binds sequences of body-posture ‘snapshots’ over time into a fluent percept of biological motion. The vast majority of studies on autism and biological motion perception have used point-light figure stimuli, which elicit biological motion perception predominantly via bottom-up processes. Here, we investigated whether autism is associated with deviances in the top-down processing of biological motion. For this, we tested a sample of adults scoring low vs high on autism traits on a recently validated EEG paradigm in which apparent biological motion is combined with frequency tagging (Cracco et al., 2022) to dissociate between two percepts: 1) the representation of individual body postures, and 2) their temporal integration into movements. In contrast to our hypothesis, we found no evidence for a diminished temporal body posture integration in the high-scoring group. We did, however, find a group difference that suggests that adults scoring high on autism traits have a visual processing style that focuses more on a single percept (i.e. either body postures or movements, contingent on saliency) compared to adults scoring low on autism traits who instead seemed to represent the two percepts included in the paradigm in a more balanced manner. Although unexpected, this finding aligns well with the autism literature on perceptual stability.

Lien vers le texte intégral (Open Access ou abonnement)

18. Parenti M, Schmidt RJ, Tancredi DJ, Hertz-Picciotto I, Walker CK, Slupsky CM. Neurodevelopment and Metabolism in the Maternal-Placental-Fetal Unit. JAMA Netw Open. 2024; 7(5): e2413399.

IMPORTANCE: Disturbances in maternal, placental, and fetal metabolism are associated with developmental outcomes. Associations of maternal, placental, and fetal metabolism with subsequent neurodevelopmental outcomes in the child are understudied. OBJECTIVE: To investigate the metabolic associations within the maternal-placental-fetal unit and subsequent neurodevelopmental outcomes in younger siblings of children with autism spectrum disorder (ASD). DESIGN, SETTING, AND PARTICIPANTS: This cohort study was conducted within a subset of the Markers of Autism Risk in Babies, Learning Early Signs (MARBLES) cohort. MARBLES is a prospective birth cohort of younger siblings of children with ASD assessed for neurodevelopmental outcomes at approximately age 36 months. Participants in MARBLES were recruited through the UC Davis MIND Institute. This subset of the MARBLES cohort included younger siblings born between 2009 and 2015. Maternal third trimester serum, placental tissue, and umbilical cord serum samples were collected from participants. Only pregnancies with at least 2 of these sample types were included in this analysis. Data analysis was conducted from March 1, 2023, to March 15, 2024. EXPOSURES: Quantitative metabolomics analysis was conducted on maternal third trimester serum, as well as placental tissue and umbilical cord serum collected at delivery. MAIN OUTCOMES AND MEASURES: Using the Autism Diagnostic Observation Schedule and Mullen Scales of Early Learning, outcomes were classified as ASD, other nontypical development (non-TD), and typical development (TD). RESULTS: This analysis included 100 maternal serum samples, 141 placental samples, and 124 umbilical cord serum samples from 152 pregnancies (median [IQR] maternal age, 34.6 [30.8-38.3] years; median [IQR] gestational age, 39.0 [38.6-39.7] weeks; 87 [57.2%] male infants). There was no evidence that the maternal third trimester serum metabolome was significantly associated with the other metabolomes. The placental and cord serum metabolomes were highly correlated (first latent variate pair: R2 = 0.75; P < .001) and the variate scores for each tissue were significantly associated with reduced risk of non-TD (placenta: relative risk [RR], 0.13; 95% CI, 0.02-0.71; cord: RR, 0.13; 95% CI, 0.03-0.70) but not ASD (placenta: RR, 1.09; 95% CI, 0.42-2.81; cord: RR, 0.63; 95% CI, 0.23-1.73) compared with the TD reference group. CONCLUSIONS AND RELEVANCE: In this cohort study of children with high familial risk of ASD, placental and cord serum metabolism at delivery were highly correlated. Furthermore, placental and cord serum metabolic profiles were associated with risk of non-TD.

Lien vers le texte intégral (Open Access ou abonnement)

19. Paveenakiattikhun S, Likhitweerawong N, Sanguansermsri C. EEG findings and clinical severity and quality of life in non-epileptic patients with autism spectrum disorders. Child Neuropsychol. 2024: 1-11.

Electroencephalogram (EEG) abnormalities could be seen in up to 60% of non-epileptic children with autism spectrum disorder (ASD). They have been used as biomarkers of ASD severity. The objective of our study is to identify EEG abnormalities in children with different degrees of ASD severity based on the Autism Treatment Evaluation Checklist (ATEC). We also want to assess the quality of life for children with ASD. All of the children underwent at least one hour of sleep-deprived EEG. Forty-five children were enrolled, of whom 42 were male. EEG abnormalities were found in 10 (22.2%) children, predominantly in the bilateral frontal areas. There were no differences in EEG findings among the mild, moderate, and severe ASD groups. The severity of ASD was associated with female sex (p-value = 0.013), ASD with attention deficit hyperactivity disorder (ADHD) (p-value = 0.032), ASD children taking medications (p-value = 0.048), and a lower Pediatric Quality of Life Inventory (PedsQL) (p-value <0.001). Social and emotional domains were the most problematic for health-related quality of life in ASD children, according to parent reports of PedsQL. Further studies with a larger sample size will help to clarify the potential associations between EEG abnormalities and the severity of ASD, as well as the impact on quality of life.

Lien vers le texte intégral (Open Access ou abonnement)

20. Pirinen V, Loukusa S, Eggers K, Sivonen J, Mäkinen L, Mämmelä L, Ebeling H, Mattila ML, Hurtig T. Could linguistic and cognitive factors, degree of autistic traits and sex predict speech disfluencies in autistic young adults and controls?. Clin Linguist Phon. 2024: 1-18.

This study aimed to evaluate the effect of linguistic complexity and individual background variables (i.e. linguistic and cognitive abilities, degree of autistic traits, and sex) on speech disfluencies in autistic young adults and controls. Thirty-two 19- to 33-year-old autistic adults and 35 controls participated in this study. The frequency of disfluencies and stuttering severity were evaluated based on a narrative speech task. Linguistic complexity was assessed by evaluating the syntactic structures of the narratives. Cognitive and linguistic abilities were assessed using the General Ability Index (GAI), Verbal Comprehension Index (VCI) and Perceptual Reasoning Index (PRI) from the Wechsler Adult Intelligence Scale IV. Autistic traits were measured using the Autism Spectrum Quotient (AQ). Multiple-linear regression analyses (syntactic complexity, GAI, AQ, sex, and group status as predictors) showed that (a) syntactic complexity predicted total and stuttering-like disfluencies and stuttering severity, (b) GAI predicted typical disfluencies, and (c) sex predicted total, typical, and stuttering-like disfluencies. Additional correlation analyses revealed negative association between PRI and disfluencies in the control group but not in the autistic group. No connection was found between AQ and disfluencies. It seems that while some connections between disfluencies and individual cognitive features were found, some of the possible contributing factors for greater speech disfluency might differ between autistic and typical speakers.

Lien vers le texte intégral (Open Access ou abonnement)

21. Pizzano M, Shire S, Shih W, Levato L, Landa R, Lord C, Smith T, Kasari C. Profiles of minimally verbal autistic children: Illuminating the neglected end of the spectrum. Autism Res. 2024.

Heterogeneity among individuals on the autism spectrum is widely acknowledged as a barrier to develop effective interventions. Overcoming this challenge requires characterization of individual differences, especially for children that are minimally verbal and often excluded from research studies. Most studies that describe autistic subgroups identify a single minimally verbal verbal group based on a single identifying measure (e.g., ADOS module one or single item indicating absence of phrase speech). Determining personalized courses of intervention requires a more detailed understanding since a single intervention will not be effective for all who are minimally verbal. The present study identified comprehensive profiles of cognitive, language, and social communication skills within a large, diverse, group of minimally verbal children with autism. The analysis combined baseline data from two studies to yield a sample of 344 participants, who were 3 to 8 years old at the time of study onset, with 60% who identified as having a race/ethnicity other than White. Via latent profile analysis (LPA), a three-group model was identified as best fit to the data. Profile identification was dependent on a participant’s combination of cognitive, expressive, and social communication characteristics, rather than a single domain. One group (n = 206) had global delays, while the other two groups (n = 95 and n = 43) had variable strengths in cognition and communication. Findings suggest that low-frequency/minimally verbal communicators with autism have heterogeneous characteristics that can be systematically organized.

Lien vers le texte intégral (Open Access ou abonnement)

22. Sadikova E, Soland J, Menezes M, Mazurek M. Impact of adverse childhood experiences and family resilience on sleep duration in autistic children. Autism. 2024: 13623613241235880.

Autistic children are more likely to have sleep difficulties and to experience adverse childhood experiences. Adverse childhood experiences can include parental divorce, bullying, or witnessing violence. We also know that children in families who are resilient (e.g. families who are connected, work together, and help each other) are less impacted by adverse childhood experiences. Our study examined whether there was a relationship between adverse childhood experiences and sleep duration in autistic children. We also wanted to find out whether family resilience protects from the negative impact of adverse childhood experiences on sleep duration. We used data from 3247 parent surveys about their children that we got from the National Survey of Children’s Health. We found that children with adverse childhood experiences are more likely to get less sleep. We also found that children with resilient families were more likely to get more sleep. Our results show that family resilience helps weaken the relationship between adverse childhood experiences and sleep, so it is important to help families build resilience.

Lien vers le texte intégral (Open Access ou abonnement)

23. Stancliffe RJ, Frantz BL. Criminal Justice and People With Intellectual and Developmental Disabilities. Intellect Dev Disabil. 2024; 62(3): 211-24.

People with intellectual and developmental disabilities (IDD) are overrepresented in the criminal justice system both as victims/survivors and as offenders. The needs and circumstances of individuals from underserved communities have received scant attention in the literature. Stakeholders met online at the 2022 State of the Science Conference on Community Living to discuss criminal justice and to identify goals for research involving people with IDD. The group focused more on victimization and less on offenders. Victimization issues examined included prevalence, people from underserved communities, sexual victimization, consequences of victimization, victim compensation, prevention, and risk reduction. Issues regarding offenders included prevalence, people from underserved communities, and competency to stand trial. Future directions are proposed for research on victimization and on offenders.

Lien vers le texte intégral (Open Access ou abonnement)

24. Turchi RM, Kuo DZ, Rusher JW, Seltzer RR, Lehmann CU, Grout RW. Considerations for Alternative Decision-Making When Transitioning to Adulthood for Youth With Intellectual and Developmental Disabilities: Policy Statement. Pediatrics. 2024; 153(6).

With advances in medical care, more youth with intellectual and/or developmental disabilities (IDD) are transitioning into adulthood. Patient- and family-centered, integrated care is warranted around this time of transition. Support teams (including the youth, caregivers, teachers, and pediatricians) should engage in transition planning, ideally starting between 12 and 14 years of age, to identify and develop resources to support the maturing youth’s capacity for independent decision-making. Care teams should consider the varied levels of alternative decision-making support, which may include supported decision-making, medical proxy decision-making, power of attorney, and/or establishment of legal guardianship arrangements, to support the youth’s health and well-being optimally. Ultimately, if independent decision-making is not appropriate, the goal for youth with IDD should be the least restrictive alternative, while preserving human rights and human dignity and promoting their autonomy. These considerations review alternative decision-making support, concepts, and legal requirements available for youth with IDD and their care teams. Pediatricians can support youth with IDD and their families in the transition process and decision-making autonomy by actively engaging the youth in care decisions, supporting needs for augmentative communication, fostering their expression of preferences and understanding of care decisions, and linking them to resources such as the medical-legal partnership model.

Lien vers le texte intégral (Open Access ou abonnement)

25. Wattel LL, Walsh RJ, Krabbendam L. Theories on the Link Between Autism Spectrum Conditions and Trans Gender Modality: a Systematic Review. Rev J Autism Dev Disord. 2024; 11(2): 275-95.

While research on the prevalence of co-occurring autism spectrum conditions (ASC) and trans gender modality (TGM) is available, less is known about the underlying mechanism of this association. Insight is needed to improve treatment of trans autistic people. This review provides an overview of theories on the ASC-TGM link and the available evidence for/against them published between January 2016 and October 2020. A systematic search was performed in PubMed, PsycINFO, Web of Science, and Scopus. This resulted in 36 studies, in which 15 theories were identified. Results indicate all theories lack substantial empirical support. Unlikely and promising theories were identified. The most promising theories were those on resistance to social norms and weakened sex differences. Future directions are provided.

Lien vers le texte intégral (Open Access ou abonnement)

26. Xia QQ, Singh A, Wang J, Xuan ZX, Singer JD, Powell CM. Autism risk gene Cul3 alters neuronal morphology via caspase-3 activity in mouse hippocampal neurons. Front Cell Neurosci. 2024; 18: 1320784.

Autism Spectrum Disorders (ASDs) are neurodevelopmental disorders (NDDs) in which children display differences in social interaction/communication and repetitive stereotyped behaviors along with variable associated features. Cul3, a gene linked to ASD, encodes CUL3 (CULLIN-3), a protein that serves as a key component of a ubiquitin ligase complex with unclear function in neurons. Cul3 homozygous deletion in mice is embryonic lethal; thus, we examine the role of Cul3 deletion in early synapse development and neuronal morphology in hippocampal primary neuronal cultures. Homozygous deletion of Cul3 significantly decreased dendritic complexity and dendritic length, as well as axon formation. Synaptic spine density significantly increased, mainly in thin and stubby spines along with decreased average spine volume in Cul3 knockouts. Both heterozygous and homozygous knockout of Cul3 caused significant reductions in the density and colocalization of gephyrin/vGAT puncta, providing evidence of decreased inhibitory synapse number, while excitatory synaptic puncta vGulT1/PSD95 density remained unchanged. Based on previous studies implicating elevated caspase-3 after Cul3 deletion, we demonstrated increased caspase-3 in our neuronal cultures and decreased neuronal cell viability. We then examined the efficacy of the caspase-3 inhibitor Z-DEVD-FMK to rescue the decrease in neuronal cell viability, demonstrating reversal of the cell viability phenotype with caspase-3 inhibition. Studies have also implicated caspase-3 in neuronal morphological changes. We found that caspase-3 inhibition largely reversed the dendrite, axon, and spine morphological changes along with the inhibitory synaptic puncta changes. Overall, these data provide additional evidence that Cul3 regulates the formation or maintenance of cell morphology, GABAergic synaptic puncta, and neuronal viability in developing hippocampal neurons in culture.

Lien vers le texte intégral (Open Access ou abonnement)