1. Ahmadi ZZ, DiBacco ML, Pearl PL. Speech Motor Function and Auditory Perception in Succinic Semialdehyde Dehydrogenase Deficiency: Toward Pre-Supplementary Motor Area (SMA) and SMA-Proper Dysfunctions. Journal of child neurology. 2021; 36(13-14): 1210-7.

This study reviews the fundamental roles of pre-supplementary motor area (SMA) and SMA-proper responsible for speech-motor functions and auditory perception in succinic semialdehyde dehydrogenase (SSADH) deficiency. We comprehensively searched the databases of PubMed, Google Scholar, and the electronic journals Springer, PreQuest, and Science Direct associated with keywords SSADHD, SMA, auditory perception, speech, and motor with AND operator. Transcranial magnetic stimulation emerged for assessing excitability/inhibitory M1 functions, but its role in pre-SMA and SMA proper dysfunction remains unknown. There was a lack of data on resting-state and task-based functional magnetic resonance imaging (MRI), with a focus on passive and active tasks for both speech and music, in terms of analysis of SMA-related cortex and its connections. Children with SSADH deficiency likely experience a dysfunction in connectivity between SMA portions with cortical and subcortical areas contributing to disabilities in speech-motor functions and auditory perception. Early diagnosis of auditory-motor disabilities in children with SSADH deficiency by neuroimaging techniques invites opportunities for utilizing sensory-motor integration as future interventional strategies.

Lien vers le texte intégral (Open Access ou abonnement)

2. Brimo K, Dinkler L, Gillberg C, Lichtenstein P, Lundström S, Åsberg Johnels J. The co-occurrence of neurodevelopmental problems in dyslexia. Dyslexia (Chichester, England). 2021; 27(3): 277-93.

The primary aim of this study was to explore the overlaps between dyslexia and a range of neurodevelopmental disorders and problems (NDPs), specifically symptoms of attention-deficit/hyperactivity disorder, autism spectrum disorder, atypical sensory perception and developmental coordination disorder. Capitalizing on a population-based sample of twins, secondary aims included estimating the heritability of dyslexia and reporting on the measurement characteristics of the scale used to assess dyslexia. A telephone interview regarding symptoms of dyslexia and other NDPs was conducted with parents of 1,688 nine-year-old twins. The prevalence and the heritability of dyslexia were estimated at 8 and 52%, respectively. The boy: girl ratio was 1.5:1. Results revealed that there was more than an eight-fold increase in (diagnostic proxy) NDPs prevalence in the dyslexia group as compared to typical readers. Quantitatively measured symptoms of inattention, oral language problems and atypical sensory perception significantly predicted dyslexia status in a multivariate analysis. By contrast, ASD-related inflexibility was inversely associated with dyslexia in the multivariate model. In sum, dyslexia often overlaps with other NDPs. The current study provides new knowledge supporting the position to move beyond isolated diagnostic categories into behavioural profiles of co-occurring problems when trying to understand the pattern of strengths and needs in individuals with dyslexia.

Lien vers le texte intégral (Open Access ou abonnement)

3. Chakraborty A, Jenjaroenpun P, Li J, El Hilali S, McCulley A, Haarer B, Hoffman EA, Belak A, Thorland A, Hehnly H, Schildkraut CL, Chen CL, Kuznetsov VA, Feng W. Replication stress induces global chromosome breakage in the fragile X genome. Cell reports. 2021; 34(12): 108838.

Lien vers le texte intégral (Open Access ou abonnement)

4. Davidson D, DiClemente CM, Hilvert E. Experiences and insights of college students with autism spectrum disorder: an exploratory assessment to inform interventions. Journal of American college health : J of ACH. 2021: 1-4.

College students with autism spectrum disorder (ASD) experience elevated drop-out rates, peer difficulties, and mental health concerns compared to their neurotypical counterparts. Thus, the firsthand concerns of college students with ASD were examined, so that supports can be appropriately tailored. Methods: Responses of 31 college students with ASD were examined in relation to 39 demographically similar neurotypical students regarding students’ college experiences (e.g., social interactions, mental health, daily living habits). Students with ASD also provided recommendations for improving college support programs. Results: Difficulties unique to students with ASD included trouble conversing with peers, feeling isolated despite preferences to be alone, inaccessible extra-curricular activities, and experiencing anxiety and depression resulting from social demands. Notably, these students endorsed desire for a « social group » to learn from the experiences of successful students. Conclusions: Practical targets were identified for university-implemented support groups, such as navigating social interactions and processing experiences with peers.

Lien vers le texte intégral (Open Access ou abonnement)

5. Halbur M, Kodak T, Williams X, Reidy J, Halbur C. Comparison of sounds and words as sample stimuli for discrimination training. Journal of applied behavior analysis. 2021; 54(3): 1126-38.

A portion of children diagnosed with autism spectrum disorder (ASD) have difficulty acquiring conditional discrimination. However, previous researchers suggested that the discrimination of nonverbal auditory stimuli may be acquired more efficiently (Eikeseth & Hayward, 2009; Uwer, et al., 2002). For example, a child may learn to touch a picture of a piano after hearing the musical instrument more quickly than when the auditory stimulus is the spoken word « piano. » The purpose of the present study was to extend previous research by assessing the acquisition of conditional discriminations with sample stimuli presented as either automated spoken words or high- and low-disparity nonverbal auditory stimuli (i.e., environmental sounds). Conditional discriminations with high-disparity environmental sounds as sample stimuli were acquired rather than or more efficiently than those trained with low-disparity environmental sounds and words as sample stimuli.

Lien vers le texte intégral (Open Access ou abonnement)

6. Harrop C, Bal V, Carpenter K, Halladay A. A lost generation? The impact of the COVID-19 pandemic on early career ASD researchers. Autism research : official journal of the International Society for Autism Research. 2021; 14(6): 1078-87.

The COVID-19 pandemic has disrupted autism research and services. Early career researchers (ECRs) are particularly vulnerable to the impact of the pandemic on job security and career development. The goal of this study was to capture the challenges ECRs are facing during the pandemic and the supports that are needed for career development and research. ECRs were invited to complete an online survey that focused on four major areas; the impact of COVID-19 on their research; changes in productivity due to COVID-19; changes to training due to COVID-19; and current mental health. 150 ECRs were eligible and provided sufficient data for inclusion. All but one ECRs reported their research had been negatively impacted by the pandemic. Reductions in productivity were reported by 85% of ECRs. The biggest impacts included recruitment of participants, increased needs at home and personal mental health. ECRs reported a 3-fold increase in burnout, as well as increased anxiety. ECR supports, such as funding, flexibility, and tenure extensions, are required to ensure ASD research does not suffer from a « lost generation » of researchers. LAY SUMMARY: The COVID-19 pandemic has had negative impacts on research around the world. Loss of productivity impedes autism research discoveries. However, researchers in the earliest phases of their career, specifically postdoctoral fellows through individuals in assistant professor (or equivalent) positions, are particularly vulnerable to long-lasting effects of pandemic-related disruptions which may limit their ability to continue as autism researchers. This survey highlights the needs of this group and identifies mechanisms by which these early career researchers may be supported in this time. This is critical to ensure the next generation of ASD researchers and clinician scientists continue on the path to advancing understanding of autism in the decades to come.

Lien vers le texte intégral (Open Access ou abonnement)

7. Huffman LC, Hubner LM, Hansen RL. Autism-Focused Online Training in Shared Decision-Making: A Randomized Controlled Trial. Journal of developmental and behavioral pediatrics : JDBP. 2021; 42(3): 173-81.

OBJECTIVE: This medical education quasi-randomized controlled trial (quasi-RCT), involving 97 developmental-behavioral pediatrics fellows across the United States, examined differential effects of 2 autism-focused, online, interactive case-based trainings on shared decision-making (SDM). METHODS: An intervention case provided direct teaching about SDM, addressing autism treatment options. A comparison case focused on evidence-based practice (EBP) related to medication use in autism with no specific SDM teaching. Measured outcomes included self-reported SDM and attitudes toward concordance in medication-prescribing. RESULTS: After the intervention, both groups showed significantly increased SDM, but not medication-prescribing concordance (controlling for trainee level, autism patient numbers, and past SDM training). CONCLUSION: This quasi-RCT presents evidence that knowledge of SDM in care of children with autism can be enhanced by online case-based training focused either indirectly on evidence-based practice or directly on SDM. Consistent online SDM training can be provided to all trainees, irrespective of the location.

Lien vers le texte intégral (Open Access ou abonnement)

8. Jones DR, Dallman A, Harrop C, Whitten A, Pritchett J, Lecavalier L, Bodfish JW, Boyd BA. Evaluating the Feasibility of The NIH Toolbox Cognition Battery for Autistic Children and Adolescents. Journal of autism and developmental disorders. 2022; 52(2): 689-99.

This study evaluates the feasibility of the NIH Toolbox Cognition Battery (NIH-TCB) for use in autism spectrum disorder (ASD). 116 autistic children and adolescents and 80 typically developing (TD) controls, ages 3-17 years, completed four NIH-TCB tasks related to inhibitory control, cognitive flexibility, processing speed, and episodic memory. While the majority of autistic and TD children completed all four tasks, autistic children experienced greater difficulties with task completion. Across autistic and TD children, performance on NIH-TCB tasks was highly dependent on IQ, but significant performance differences related to ASD diagnosis were found for two of four tasks. These findings highlight the potential strengths and limitations of the NIH-TCB for use with autistic children.

Lien vers le texte intégral (Open Access ou abonnement)

9. Naigles LR. It takes all kinds (of information) to learn a language: Investigating the language comprehension of typical children and children with autism. Current directions in psychological science. 2021; 30(1): 11-8.

What factors influence children’s understanding of language, in both typical and atypical development? In this article, I summarize findings from the Longitudinal Study of Early Language (LSEL), which has been following the talk, understanding, and interactions of typically developing (TD) children and children with Autism Spectrum Disorder (ASD). The LSEL has found group similarities in syntactic understanding and word learning strategies, but also within-group variability that correlates with other aspects of the children’s behavior. In particular, early linguistic knowledge and social abilities are both shown to play independent roles in later talk and understanding. Thus, theoretical perspectives that highlight social vs. linguistic underpinnings to language development should be viewed as complementary rather than competing.

Lien vers le texte intégral (Open Access ou abonnement)

10. Pehlivanidis A, Tasios K, Papanikolaou K, Douzenis A, Michopoulos I. Validation of the Empathy Quotient (EQ) – Greek version. Psychiatrike = Psychiatriki. 2021; 32(1): 43-50.

The original English language Empathy Quotient (EQ) is a self-reporting questionnaire that measures the construct of empathy in adults of normal intelligence. The EQ is sensitive to gender, and neurodevelopmental disorders. The EQ has been translated to many languages all over the world. The EQ – Greek version may be available through open access from www.autismresearchcentre.com. Aim of the present study was to validate the EQ- Greek version.The study took place in the 1st and 2nd Departments of Psychiatry of the National and Kapodistrian University of Athens (NKUA), « Eginition » and « Attikon » Hospitals respectively, and in the Korydallos Prison Psychiatric Clinic in Athens. Two groups completed the original 60 items version. One group consisted of general population and volunteer students from post graduate training programs (normal control group, N= 127) and the other group of patients recruited from the Adult Neurodevelopmental Disorders Unit of the 1st Department of Psychiatry of NKUA, the outpatients’ clinic of the 2nd Department of Psychiatry of NKUA and the Korydallos Prison Psychiatric Clinic (patient group, N=196). Three versions of the EQ were examined: the EQ-40, EQ-28 and EQ-15. All versions showed very good internal validity: Cronbach’s a value was 0.902, 0.892 and 0.793 respectively. They all showed good test-retest variability: the Intraclass Correlation Coefficient was 0.928, 0.924 and 0.855 respectively. Concurrent validity examined by the correlation analysis with the Interpersonal Reactivity Index (IRI) showed non-significant correlations between the EQ and the IRI. Exploratory Factor Analysis (EFA) indicated a one-factor structure for the three versions. Confirmatory Factor Analysis (CFA) for the one-factor structure showed a good fit for all the three versions. CFA for the three-factor structures (Cognitive Empathy, Emotional Empathy, Social Skills) showed also a good fit for EQ-28 and the EQ-15. When the EQ-40 was used as a measure of empathy in a single dimension in adults, the EQ discriminated the normal control group from the patients’ group. The mean EQ score for the total sample was 35.84 with the lowest scoring being among Autism Spectrum Disorder (ASD) patients. As expected, females scored higher than males (p<0.001). To conclude, the Greek version of EQ showed good psychometric properties and could serve as a useful tool for clinicians to assess empathy in clinical populations and especially in subjects with ASD and other neurodevelopmental disorders.

Lien vers le texte intégral (Open Access ou abonnement)

11. Peijen R, Bos MCM. Brief Report: The Benefits of an Employer-Based Work-Experience Program for Participants with ASD. Journal of autism and developmental disorders. 2022; 52(2): 890-6.

An employer-based work-experience program run by a multinational organization temporarily employs people with an autism spectrum disorder (ASD) to prepare them for external employment. This study observes the impact of participation for people with ASD in establishing employment (with or without a competitive salary). A quasi-experimental design constructed a control group that can be considered similar to the group of participants in the employer-based program, except for supported-employment entitlement. Results indicate a 29% increase in post-five-year employment for participants than the control group, but no effect was found on employment with a competitive salary, only for the post-second year. Inclusivity enhances the careers of people with ASD, but their potential to establish employment with a competitive salary remains limited.

Lien vers le texte intégral (Open Access ou abonnement)

12. Phillips H, Wright B, Allgar V, McConachie H, Sweetman J, Hargate R, Hodkinson R, Bland M, George H, Hughes A, Hayward E, De Las Heras VFG, Le Couteur A. Adapting and validating the Autism Diagnostic Observation Schedule Version 2 for use with deaf children and young people. Journal of autism and developmental disorders. 2022; 52(2): 553-68.

We report a Delphi Consensus modification and first validation study of the Autism Diagnostic Observation Schedule – 2 with deaf children and young people (ADOS-2 Deaf adaptation). Validation included 122 deaf participants (aged 2-18 years), 63 with an Autism Spectrum Disorder (ASD). This was compared to a National Institute for Health and Clinical Excellence (NICE) guideline standard clinical assessment by blinded independent specialist clinicians. Results showed overall sensitivity 73% (95%CI 60%, 83%); specificity 71% (95%CI 58%, 82%), and for the more common modules 1-3 (combined as in previous studies) sensitivity 79% (95% CI 65-89%); specificity 79% (95% CI 66-89%) suggesting this instrument will be a helpful addition for use with deaf children and young people.

Lien vers le texte intégral (Open Access ou abonnement)

13. Proteau-Lemieux M, Lacroix A, Galarneau L, Corbin F, Lepage JF, Çaku A. The safety and efficacy of metformin in fragile X syndrome: An open-label study. Progress in neuro-psychopharmacology & biological psychiatry. 2021; 110: 110307.

Fragile X syndrome (FXS) is a rare genetic disorder characterized by a deficit of the fragile X mental retardation protein (FMRP), encoded by the fragile X mental retardation gene (FMR1) on the X chromosome. It has been hypothesized that the absence of FRMP leads to higher levels of Insulin-like Growth Factor 1 (IGF-1) in the brain, possibly contributing to the intellectual impairment characteristic of the disorder. Preclinical studies have shown that metformin downregulates the insulin/IGF-1 signaling pathway, corrects dendritic defects, and improves repetitive behavior in Fmr1 knockout mice. Here, we conducted an open-label study to evaluate: (1) the safety of metformin in normoglycemic individuals with FXS; and (2) the efficacy of metformin to improve aberrant behavior, attention, and to modulate cortical functioning. Fifteen patients with FXS, aged from 17 to 44, received 500 mg of metformin twice/daily over a 9-week treatment period. The primary outcome measures were: (1) the incidence of adverse events (AE); (2) the decrease in IGF-1 levels; and (3) the global score of the Aberrant Behavior Checklist-Community, Fragile X. The secondary outcomes were: (1) the Test of Attentional Performance for children (KiTAP); and (2) the Transcranial Magnetic Stimulation (TMS) parameters measuring cortical excitability. The metformin treatment was well tolerated, with no significant related AE. The TMS data showed an increase in corticospinal inhibition mediated by GABA(A) and GABA(B) mechanisms. This study demonstrates the safety of metformin in normoglycemic patients with FXS, and suggests the potential of this medication in modifying GABA-mediated inhibition, a hallmark of FXS pathophysiology. Implications for future clinical trials are discussed.

Lien vers le texte intégral (Open Access ou abonnement)

14. Rossi JJ, Rosenfeld JA, Chan KM, Streff H, Nankivell V, Peet DJ, Whitelaw ML, Bersten DC. Molecular characterisation of rare loss-of-function NPAS3 and NPAS4 variants identified in individuals with neurodevelopmental disorders. Scientific reports. 2021; 11(1): 6602.

Aberrations in the excitatory/inhibitory balance within the brain have been associated with both intellectual disability (ID) and schizophrenia (SZ). The bHLH-PAS transcription factors NPAS3 and NPAS4 have been implicated in controlling the excitatory/inhibitory balance, and targeted disruption of either gene in mice results in a phenotype resembling ID and SZ. However, there are few human variants in NPAS3 and none in NPAS4 that have been associated with schizophrenia or neurodevelopmental disorders. From a clinical exome sequencing database we identified three NPAS3 variants and four NPAS4 variants that could potentially disrupt protein function in individuals with either developmental delay or ID. The transcriptional activity of the variants when partnered with either ARNT or ARNT2 was assessed by reporter gene activity and it was found that variants which truncated the NPAS3/4 protein resulted in a complete loss of transcriptional activity. The ability of loss-of-function variants to heterodimerise with neuronally enriched partner protein ARNT2 was then determined by co-immunoprecipitation experiments. It was determined that the mechanism for the observed loss of function was the inability of the truncated NPAS3/4 protein to heterodimerise with ARNT2. This further establishes NPAS3 and NPAS4 as candidate neurodevelopmental disorder genes.

Lien vers le texte intégral (Open Access ou abonnement)

15. Salcedo-Arellano MJ, Wang JY, McLennan YA, Doan M, Cabal-Herrera AM, Jimenez S, Wolf-Ochoa MW, Sanchez D, Juarez P, Tassone F, Durbin-Johnson B, Hagerman RJ, Martínez-Cerdeño V. Cerebral Microbleeds in Fragile X-Associated Tremor/Ataxia Syndrome. Movement disorders : official journal of the Movement Disorder Society. 2021; 36(8): 1935-43.

BACKGROUND: Fragile X-associated tremor/ataxia syndrome is a neurodegenerative disease of late onset developed by carriers of the premutation in the fragile x mental retardation 1 (FMR1) gene. Pathological features of neurodegeneration in fragile X-associated tremor/ataxia syndrome include toxic levels of FMR1 mRNA, ubiquitin-positive intranuclear inclusions, white matter disease, iron accumulation, and a proinflammatory state. OBJECTIVE: The objective of this study was to analyze the presence of cerebral microbleeds in the brains of patients with fragile X-associated tremor/ataxia syndrome and investigate plausible causes for cerebral microbleeds in fragile X-associated tremor/ataxia syndrome. METHODS: We collected cerebral and cerebellar tissue from 15 fragile X-associated tremor/ataxia syndrome cases and 15 control cases carrying FMR1 normal alleles. We performed hematoxylin and eosin, Perls and Congo red stains, ubiquitin, and amyloid β protein immunostaining. We quantified the number of cerebral microbleeds, amount of iron, presence of amyloid β within the capillaries, and number of endothelial cells containing intranuclear inclusions. We evaluated the relationships between pathological findings using correlation analysis. RESULTS: We found intranuclear inclusions in the endothelial cells of capillaries and an increased number of cerebral microbleeds in the brains of those with fragile X-associated tremor/ataxia syndrome, both of which are indicators of cerebrovascular dysfunction. We also found a suggestive association between the amount of capillaries that contain amyloid β in the cerebral cortex and the rate of disease progression. CONCLUSION: We propose microangiopathy as a pathologic feature of fragile X-associated tremor/ataxia syndrome. © 2021 International Parkinson and Movement Disorder Society.

Lien vers le texte intégral (Open Access ou abonnement)

16. Strauss P, Cook A, Watson V, Winter S, Whitehouse A, Albrecht N, Wright Toussaint D, Lin A. Mental health difficulties among trans and gender diverse young people with an autism spectrum disorder (ASD): Findings from Trans Pathways. Journal of psychiatric research. 2021; 137: 360-7.

Recent research highlights an overlap of gender diversity and autism spectrum disorders (ASD); however, data on individuals who are trans and also on the autism spectrum are largely from clinical samples and may not be representative of individuals who are trans with ASD in the general population. In addition, there is scant literature on the mental health of these individuals and their experiences in accessing gender-affirming care. We investigated the prevalence of ASD in trans young people, their mental health (psychiatric diagnoses and self-harm and suicidal behaviors) and experiences in accessing gender-affirming care. This is an analysis of data collected in an Australian cross-sectional mixed methods survey (N = 859) of trans young people aged 14-25 years. Overall, 22.5% of participants had ever received a diagnosis of ASD from a health professional. This group was more likely to exhibit current psychopathology, have engaged in self-harming and suicidal behaviors, and was also more likely than the non-ASD diagnosed reference group to have received a psychiatric diagnosis. The ASD-diagnosed group were also more likely to experience barriers in accessing gender-affirming care. This is the first large population-based sample of trans individuals with ASD to report on mental health outcomes and experiences in accessing gender-affirming care. We highlight the necessity for clinicians working with either trans or ASD populations to have awareness of the co-occurrence, and to cultivate skills to work with individuals who are both trans and on the autism spectrum.

Lien vers le texte intégral (Open Access ou abonnement)

17. Walton JR, Martens MA, Moore-Clingenpeel M. Brief Report: Evaluating the Effectiveness of Music to Obtain More Accurate Blood Pressure Readings in Children with Williams Syndrome. Journal of autism and developmental disorders. 2022; 52(2): 871-6.

This study examined if listening to music will improve the accuracy of blood pressure (BP) readings in children with Williams syndrome (WS). Fifty-two participants (7-12 years) were randomly assigned to a music or non-music group. BPs were obtained at two time points. There was a significant decrease in both systolic and diastolic BP from Time 1 to Time 2 for everyone. Participants from the music group had lower systolic BP readings at Time 2 than participants in the non-music group (Cohen’s d = 0.33). Systolic BP readings were approximately 3.8 mmHg lower in the music group. Music may be beneficial in obtaining more accurate systolic BP readings in children with WS.

Lien vers le texte intégral (Open Access ou abonnement)

18. Yamamoto M. How children with autism spectrum disorder perceive themselves: A narrative research. Japan journal of nursing science : JJNS. 2021; 18(4): e12420.

AIM: The purpose of this article is, through a dialog between the child and the author, to clarify how children with autism spectrum disorder (ASD) perceive themselves. METHODS: The qualitative study’s participants were nine children with ASD. Their ages were 8-18 years. Data were collected through two sessions of dialog between the child and the author. Data were analyzed through a qualitative inductive approach based on the perspectives of narrative analysis. RESULTS: There were eight categories of how the children perceive themselves. The children talked about themselves as follows. The children with ASD wished to share feelings with others, sensitively read between the lines, and talked about the belief to cherish their friends. They were able to anticipate that repetitive behavior or interest in one thing would end someday. And they then made an effort to deal with problematic matters in social life. CONCLUSION: This article proposes to understand the experience of « increasing alienation » in children with ASD. As a type of support to understand the child, this article proposed a dialog that elicits communication arrangements, specifically a dialog that focuses on forming a profound relationship of being able to share and communicate with each other.

Lien vers le texte intégral (Open Access ou abonnement)

19. Yoshida T, Yamagata A, Imai A, Kim J, Izumi H, Nakashima S, Shiroshima T, Maeda A, Iwasawa-Okamoto S, Azechi K, Osaka F, Saitoh T, Maenaka K, Shimada T, Fukata Y, Fukata M, Matsumoto J, Nishijo H, Takao K, Tanaka S, Okabe S, Tabuchi K, Uemura T, Mishina M, Mori H, Fukai S. Canonical versus non-canonical transsynaptic signaling of neuroligin 3 tunes development of sociality in mice. Nature communications. 2021; 12(1): 1848.

Neuroligin 3 (NLGN3) and neurexins (NRXNs) constitute a canonical transsynaptic cell-adhesion pair, which has been implicated in autism. In autism spectrum disorder (ASD) development of sociality can be impaired. However, the molecular mechanism underlying NLGN3-mediated social development is unclear. Here, we identify non-canonical interactions between NLGN3 and protein tyrosine phosphatase δ (PTPδ) splice variants, competing with NRXN binding. NLGN3-PTPδ complex structure revealed a splicing-dependent interaction mode and competition mechanism between PTPδ and NRXNs. Mice carrying a NLGN3 mutation that selectively impairs NLGN3-NRXN interaction show increased sociability, whereas mice where the NLGN3-PTPδ interaction is impaired exhibit impaired social behavior and enhanced motor learning, with imbalance in excitatory/inhibitory synaptic protein expressions, as reported in the Nlgn3 R451C autism model. At neuronal level, the autism-related Nlgn3 R451C mutation causes selective impairment in the non-canonical pathway. Our findings suggest that canonical and non-canonical NLGN3 pathways compete and regulate the development of sociality.

Lien vers le texte intégral (Open Access ou abonnement)