1. Ailey SH, Molly B, Tichá R, Abery B, Khuu BK, Angel L. Health professionals’ education related to people with intellectual and developmental disabilities: A scoping review. J Appl Res Intellect Disabil;2024 (May);37(3):e13208.

BACKGROUND: People with intellectual and developmental disabilities are among the most underserved in an inequitable healthcare system. METHODS: Using Arksey and O’Malley’s methodology and a social determinants of health framework, we conducted a scoping review of literature on the state of practice in education of healthcare professionals in the health and healthcare needs of this population. RESULTS: Searches found 4948 articles, with 182 included in the final review. Themes identified included gaps of not being informed by workforce needs, continued use of the medical model of care, not addressing intersectionality with racial/ethnic and other discriminations, and lack of involvement of the population in developing/evaluating programs and promising trends of development of competency-based interprofessional programs with experiential learning. CONCLUSION: We provide recommendations for best practices in a concerted effort to educate a healthcare workforce equipped with the knowledge and skills to address the health needs of this population.

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2. Bottema-Beutel K, McKinnon R, Mohiuddin S, LaPoint SC, Kim SY. Problems with « problem behavior »: A secondary systematic review of intervention research on transition-age autistic youth. Autism;2024 (Feb 22):13623613241229159.

In a previous study, we looked at research done on strategies to support autistic people who were between 14 and 22 years old. For this study, we looked at all of the studies in our previous study that tried to decrease or stop autistic people from doing certain things-many researchers call these things « problem behavior. » There were 48 studies that tried to reduce problem behavior, and most of them used strategies like prompting and reinforcement to try get autistic people to change their behavior. We found many things wrong with these studies. Most of them did not define the group of behaviors they were trying to stop autistic people from doing. None of the studies looked at whether any side effects happened when they tried the strategy they were studying. Also, most of the studies tried to stop autistic people from doing behaviors that probably were not harmful, like stereotypic behavior. Most of the studies did not say how they decided that the behaviors they tried to stop were a problem for the autistic people in the study, and most studies did not try to figure out why the autistic people in the study did the behaviors the researchers were trying to stop them from doing.

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3. Breda C, Santero S, Conti MV, Cena H. Programs to manage Food Selectivity in individuals with Autism Spectrum Disorder. Nutr Res Rev;2024 (Feb 22):1-34.

Autism Spectrum Disorder (ASD) is a complex group of neurodevelopmental disorders characterized by impaired social communication and restricted interests/repetitive behaviors. In this regard, sensory processing difficulties and delayed oral motor skills often predispose individuals with ASD to food selectivity (FS). It is usually associated with repetitive eating patterns that can lead to multiple malnutrition conditions. The objective of this narrative review is to present an overview about the existing nutritional interventions aiming at promoting a healthy eating pattern and addressing food selectivity among individuals with ASD. Regarding the interventions targeting nutrition education, the majority of the analyzed studies failed to demonstrate their effectiveness. On the other hand, many educational interventions involving taste or cooking sessions, as well as behavioral interventions for FS, demonstrated effective results. Moreover, multidisciplinary in tailoring such programs, including psychology speech therapy and nutritional skills, is acknowledged as a key approach.

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4. Bulonza R, Watkins K, Parsons R, Sunderland B, Whitehouse A, Caccetta R. The use of psychotropic medications in autistic individuals (21 years and younger) in Western Australia: A preliminary investigation. Autism;2024 (Feb 22):13623613231226099.

Prescriptions and use of medications to treat mental health conditions in young autistic populations are inconsistent worldwide. This makes it hard to compare findings from international studies to the Australian autistic population, where there are limited relevant studies. Apart from risperidone, there are no other medications specified for direct use in autistic persons. This study aims to gain initial broad understanding of the use of medications, commonly prescribed for mental health conditions, specifically by autistics under the age of 21 years. We analysed data that were previously collected as part of the Western Australian Autism Biological Registry between 2011 and 2015 which amounted to 239 surveys completed on young persons with diagnosed autism. The questionnaires included information on co-occurring conditions, current or previous use of medications and reasons for use of the medications. Only one-quarter of the participants in this study reported using at least one mental health-related medication in their lifetime. The most reported medications were stimulants, antidepressants and antiepileptics. The reasons for using medication included managing attention deficit hyperactivity disorder, challenging behaviours, seizures, sleep difficulties and symptoms of anxiety and depression. The number of individuals reporting medication use in this study was lower compared to other developed countries. Nevertheless, these medications should be monitored due to limited understanding of their use to manage co-occurring symptoms in young autistic persons. The findings highlight the importance of ongoing research to better understand mental health-related medications and inform best practice.

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5. Corazza LA, Dousseau GC, de Freitas JL, Torres IA, Rocha MSG. A Case of NEDMAGA: Neurodevelopmental Disorder with Movement Abnormalities, Abnormal Gait, and Autistic Features. Mov Disord Clin Pract;2024 (Feb);11(2):181-183.

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6. Edwards C, Gibbs V, Love AMA, Brown L, Cai RY. A qualitative exploration of an autism-specific self-compassion program: The ASPAA. Autism;2024 (Feb 21):13623613241234097.

Autistic people often struggle to find the right support for their mental health. We wanted to change that by trying a new approach to help autistic adults with their emotions and well-being. We focused on something called « self-compassion, » which is a way of being kind and understanding toward ourselves. This approach has worked well for many people, but we didn’t know if it would work for autistic individuals. We invited 39 autistic adults to join an online program that taught them about self-compassion. The program lasted 5 weeks and included educational materials, meditation exercises, and self-reflection activities. We asked the participants for feedback each week and at the end of the program. From their responses, we discovered four important things. First, self-compassion had a big positive impact on the well-being of autistic adults. Second, they faced some challenges during the program. Third, they saw self-compassion as a journey that takes time and practice. Finally, they described how they valued changes to help autistic people engage with the program. Our findings show that self-compassion can really help autistic adults. We learned about the benefits they experienced and the difficulties they faced. Most importantly, we found that personalized support is crucial for autistic individuals. By creating programs that consider their specific needs, we can improve their mental health and make their lives better.

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7. Fatta LM, Bianchi D, Laugeson EA, Veytsman E, Romano G, Laghi F, Scattoni ML. Enhancing social outcomes in autistic youth: Assessing the impact of PEERS® booster sessions. Res Dev Disabil;2024 (Feb 22);147:104698.

BACKGROUND: The Program for the Education and Enrichment of Relational Skills (PEERS®) is a social skills training program for autistic adolescents and those facing social challenges. Its efficacy has been established worldwide, including in Italy. Although booster interventions are a potentially valuable strategy to maintain improvements over time, there is currently no research on the efficacy of providing booster sessions of PEERS® following the traditional treatment. AIMS: This study aims to evaluate the efficacy of PEERS® Booster sessions in a sample who had previously participated in a traditional PEERS® Adolescent program. METHODS AND PROCEDURES: A longitudinal non-randomized study was conducted involving 21 autistic adolescents, divided into the treatment group undergoing PEERS® Booster sessions and the control group without it. OUTCOMES AND RESULTS: The study evaluated the primary outcomes (social abilities) and secondary outcomes (co-occurrences, executive functions) at two-time points (pre- and post-treatment). No significant differences were found between groups on baseline measures and primary outcomes. However, there were significant group differences between pre- and post-treatment on primary outcomes (social awareness and social communication) and secondary outcomes (externalizing problems). CONCLUSIONS AND IMPLICATIONS: The efficacy of the PEERS® Booster Sessions shows promise and clinical implications were also discussed.

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8. Fonteneau M, Brugoux A, Jaccaz D, Donello JE, Banerjee P, Le Merrer J, Becker JA. The NMDA receptor modulator zelquistinel durably relieves behavioral deficits in three mouse models of autism spectrum disorder. Neuropharmacology;2024 (Feb 22):109889.

Autism spectrum disorders (ASD) are complex neurodevelopmental disorders characterized by deficient social communication and interaction together with restricted, stereotyped behaviors. Currently approved treatments relieve comorbidities rather than core symptoms. Since excitation/inhibition balance and synaptic plasticity are disrupted in ASD, molecules targeting excitatory synaptic transmission appear as highly promising candidates to treat this pathology. Among glutamatergic receptors, the NMDA receptor has received particular attention through the last decade to develop novel allosteric modulators. Here, we show that positive NMDA receptor modulation by zelquistinel, a spirocyclic β-lactam platform chemical, relieves core symptoms in two genetic and one environmental mouse models of ASD. A single oral dose of zelquistinel rescued, in a dose-response manner, social deficits and stereotypic behavior in Shank3(Δex13-16-/-) mice while chronic intraperitoneal administration promoted a long-lasting relief of such autistic-like features in these mice. Subchronic oral mid-dose zelquistinel treatment demonstrated durable effects in Shank3(Δex13-16-/-), Fmr1(-/-) and in utero valproate-exposed mice. Carry-over effects were best maintained in the Fmr1 null mouse model, with social parameters being still fully recovered two weeks after treatment withdrawal. Among recently developed NMDA receptor subunit modulators, zelquistinel displays a promising therapeutic potential to relieve core symptoms in ASD patients, with oral bioavailability and long-lasting effects boding well for clinical applications. Efficacy in three mouse models with different etiologies supports high translational value. Further, this compound represents an innovative pharmacological tool to investigate plasticity mechanisms underlying behavioral deficits in animal models of ASD.

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9. Giua G, Iezzi D, Caceres-Rodriguez A, Strauss B, Chavis P, Manzoni OJ. Sex-specific modulation of early life vocalization and cognition by Fmr1 gene dosage in a mouse model of Fragile X Syndrome. Biol Sex Differ;2024 (Feb 21);15(1):18.

BACKGROUND: Pup-dam ultrasonic vocalizations (USVs) are essential to cognitive and socio-emotional development. In autism and Fragile X Syndrome (FXS), disruptions in pup-dam USV communication hint at a possible connection between abnormal early developmental USV communication and the later emergence of communication and social deficits. METHODS: Here, we gathered USVs from PND 10 FXS pups during a short period of separation from their mothers, encompassing animals of all possible genotypes and both sexes (i.e., Fmr1-/y vs. Fmr1+/y males and Fmr1+/+, +/-, and -/- females). This allowed comparing the influence of sex and gene dosage on pups’ communication capabilities. Leveraging DeepSqueak and analyzing vocal patterns, intricate vocal behaviors such as call structure, duration, frequency modulation, and temporal patterns were examined. Furthermore, homing behavior was assessed as a sensitive indicator of early cognitive development and social discrimination. This behavior relies on the use of olfactory and thermal cues to navigate and search for the maternal or nest odor in the surrounding space. RESULTS: The results show that FMRP-deficient pups of both sexes display an increased inclination to vocalize when separated from their mothers, and this behavior is accompanied by significant sex-specific changes in the main features of their USVs as well as in body weight. Analysis of the vocal repertoire and syntactic usage revealed that Fmr1 gene silencing primarily alters the USVs’ qualitative composition in males. Moreover, sex-specific effects of Fmr1 silencing on locomotor activity and homing behavior were observed. FMRP deficiency in females increased activity, reduced nest-reaching time, and extended nest time. In males, it prolonged nest-reaching time and reduced nest time without affecting locomotion. CONCLUSIONS: These findings highlight the interplay between Fmr1 gene dosage and sex in influencing communicative and cognitive skills during infancy. In this study, we investigated ultrasonic vocalizations (USVs) and homing behavior in a mouse model of Fragile X Syndrome (FXS), a leading genetic cause of autism spectrum disorder (ASD) caused by a mutation of the X-chromosome linked Fmr1 gene. Disruptions in pup-dam USV communication and cognitive skills may be linked to the later emergence of communication and social deficits in ASD. USVs were collected from 10-day-old FXS pups of all possible genotypes and both sexes during a short period of separation from their mothers. We utilized DeepSqueak, an advanced deep learning system, to examine vocal patterns and intricate vocal behaviors, including call structure, duration, frequency modulation, and their temporal patterns. Homing, a sensitive indicator of early cognitive development and social discrimination was assessed at P13. The results showed that FXS pups of both sexes displayed an increased inclination to vocalize when separated from their mothers. Examination of the vocal repertoire and its syntactic usage revealed that the silencing of the Fmr1 gene primarily alters the qualitative composition of ultrasonic communication in males. The sex-specific changes observed in USVs were accompanied by modifications in body weight. Regarding homing behavior, the deficiency of FMRP led to opposite deficits in activity, time to reach the nest, and nesting time depending on sex. Taken together, these findings highlight the interplay between Fmr1 gene dosage and sex in shaping communication and cognition during infancy. eng

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10. Huber A, Sarne V, Beribisky AV, Ackerbauer D, Derdak S, Madritsch S, Etzler J, Huck S, Scholze P, Gorgulu I, Christodoulou J, Studenik CR, Neuhaus W, Connor B, Laccone F, Steinkellner H. Generation and Characterization of a Human Neuronal In Vitro Model for Rett Syndrome Using a Direct Reprogramming Method. Stem Cells Dev;2024 (Feb 22)

Rett Syndrome (RTT) is a severe neurodevelopmental disorder, afflicting 1 in 10,000 female births. It is caused by mutations in the X-linked methyl-CpG-binding protein gene (MECP2), which encodes for the global transcriptional regulator methyl CpG binding protein 2 (MeCP2). As human brain samples of RTT patients are scarce and cannot be used for downstream studies, there is a pressing need for in vitro modeling of pathological neuronal changes. In this study, we use a direct reprogramming method for the generation of neuronal cells from MeCP2-deficient and wild-type human dermal fibroblasts using two episomal plasmids encoding the transcription factors SOX2 and PAX6. We demonstrated that the obtained neurons exhibit a typical neuronal morphology and express the appropriate marker proteins. RNA-sequencing confirmed neuronal identity of the obtained MeCP2-deficient and wild-type neurons. Furthermore, these MeCP2-deficient neurons reflect the pathophysiology of RTT in vitro, with diminished dendritic arborization and hyperacetylation of histone H3 and H4. Treatment with MeCP2, tethered to the cell penetrating peptide TAT, ameliorated hyperacetylation of H4K16 in MeCP2-deficient neurons, which strengthens the RTT relevance of this cell model. We generated a neuronal model based on direct reprogramming derived from patient fibroblasts, providing a powerful tool to study disease mechanisms and investigating novel treatment options for RTT.

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11. Jodra M, García-Villamisar D. Protective factors against the emotional impact of the pandemic in adults with autism spectrum disorders (ASD) and intellectual disability (ID). Sci Rep;2024 (Feb 22);14(1):4341.

The pandemic has had very negative effects on the mental health of the population, especially in people with autism spectrum disorders (ASD) and intellectual disability (ID). We analyzed whether social communication, quality of life, and anxiety explain changes in the emotional impact of the pandemic in 60 adults with ASD and ID. Correlations between the study variables were analyzed and subsequently a multiple regression analysis was performed. The results show that communication writing, leisure and well-being index, explain 31% of the dependent variable. The well-being index (PWI) contributes significantly to improving the fit of the model, as indicated by β value. The remaining variables, communication writing and leisure socialization, do not contributed significantly to improving the fit of the model. Quality of life is the only variable that can explain changes in the emotional impact of the pandemic in the study population. This finding should guide future psychoeducational interventions and services for adults.

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12. Johnson K, Stanfield AC, Scerif G, McKechanie A, Clarke A, Herring J, Smith K, Crawford H. A holistic approach to fragile X syndrome integrated guidance for person-centred care. J Appl Res Intellect Disabil;2024 (May);37(3):e13214.

BACKGROUND: The Fragile X community has expressed a desire for centralised, national guidelines in the form of integrated guidance for Fragile X Syndrome (FXS). METHODS: This article draws on existing literature reviews, primary research and clinical trials on FXS, a Fragile X Society conference workshop and first-hand experience of clinicians who have worked with those living with FXS over many years. RESULTS: The article scopes proposed integrated guidance over the life course, including appendices of symptoms, comorbidities and referral options for FXS and Fragile X Premutation Associated Conditions. CONCLUSION: Integrated guidance would provide an authoritative source for doctors, health professionals, therapists, care workers, social workers, educators, employers, families and those living with FXS, so that a holistic, person-centred approach can be taken across the United Kingdom to garner the best outcomes for those with FXS.

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13. Khorashad BS, Wang Y, Holmberg M, Dhejne C, Savic I. Gender Incongruence and Autistic Traits: Cerebral and Behavioral Underpinnings. Arch Sex Behav;2024 (Feb 22)

Gender dysphoria and autism spectrum disorder (ASD) co-occur at high rates. Yet, it is unknown whether gender dysphoria and ASD are associated with common or distinct neurobiological correlates or how they relate to experiences of gender-related body incongruence. Using the Social Responsiveness Scale, we assessed autistic traits in 99 transgender and 99 cisgender individuals and investigated their associations with gender-related body incongruence, measured via a visually based « Body Morph » test, and with cortical thickness in the brain. Autistic traits were significantly higher among transgender individuals, and those with higher autistic traits had higher body incongruence scoring. Among transgender individuals, higher autistic traits were linked with a thinner cortex bilaterally in the temporal pole and the superior and inferior temporal gyri. Autistic traits were only partly associated with cortical morphology patterns previously reported in transgender individuals; instead, they were primarily linked to temporal lobe areas mediating social cognition. While replicating the previous literature on the increased prevalence of autistic traits among transgender individuals, this study reports specific regions in the brains of transgender individuals where cortical thickness is associated with autistic traits.

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14. Kilmer M, Hong M, Randolph D, Reichel A, Huetter S, Bowden M, Kilmer C. Animal-assisted therapy in pediatric autism spectrum disorder: A case report. Nurse Pract;2024 (Mar 1);49(3):31-39.

The use of therapy or service dogs to assist children with autism spectrum disorder (ASD) is increasing in clinical settings. Research studies indicate that children with ASD display enhanced prosocial behavior and emotional regulation when canines are included in therapy. Despite increased application of animal-assisted therapy in clinical and inpatient settings, healthcare providers show limited understanding of best practices for its use and require a research-based approach to incorporate animals effectively into therapeutic plans of care for pediatric patients with ASD.

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15. Kollayan BY, Cansiz D, Beler M, Unal I, Emekli-Alturfan E, Yalcinkaya SE. Effects of low-dose ionizing radiation on the molecular pathways linking neurogenesis and autism spectrum disorders in zebrafish embryos. Drug Chem Toxicol;2024 (Feb 21):1-14.

Prenatal exposure to environmental factors may play an important role in the aetiopathogenesis of autism spectrum disorder (ASD). We aim to investigate the potential effects of low-dose x-rays from dental diagnostic x-rays on neurodevelopment and molecular mechanisms associated with ASD in developing zebrafish embryos. Zebrafish embryos were divided into four groups and exposed using a dental x-ray unit: control, 0.08, 0.15 and 0.30 seconds, which are exemplary exposure settings for periapical imaging. These exposure times were measured as 7.17, 23.17 and 63.83 mSv using optical stimulated luminescence dosimeters. At the end of 72 hours post-fertilization, locomotor activity, oxidant-antioxidant status, and acetylcholine esterase (AChE) activity were analyzed. Expression of genes related to apoptosis (bax, bcl2a, p53), neurogenesis (α1-tubulin, syn2a, neurog1, elavl3) and ASD (eif4eb, adsl2a, shank3) was determined by RT-PCR. Even at reduced doses, developmental toxicity was observed in three groups as evidenced by pericardial edema, yolk sac edema and scoliosis. Deleterious effects of dental x-rays on neurogenesis through impaired locomotor activity, oxidative stress, apoptosis and alterations in genes associated with neurogenesis and ASD progression were more pronounced in the 0.30s exposure group. Based on these results we suggest that the associations between ASD and low-dose ionizing radiation need a closer look.

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16. Laufer A, Isman E. Differential impact on parental quality of life: Comparing parents to children with autism spectrum disorder and those with other disabilities during the COVID-19 pandemic. Child Care Health Dev;2024 (Mar);50(2):e13227.

BACKGROUND: Limited research has examined parental quality of life (QoL) for caregivers of children with special needs, mostly comparing parents of children with autism spectrum disorder (ASD) to those with typical development. This study examines QoL and related variables during the COVID-19 pandemic among two comparable groups: parents of children with ASD and parents of children with other diagnoses (non-ASD). METHOD: The sample included 175 Israeli parents (ASD = 101; non-ASD = 74). The parents were surveyed about the pandemic’s effects on family life, child’s function, and their own psychological distress, resilience, and QoL. RESULTS: Parents in both groups reported deterioration in their child’s academic, emotional, social, and functioning performance. However, higher psychological distress and more deterioration in child behaviour were reported in the ASD group. In both groups, QoL was positively associated with the introduction of distance learning and parental resilience and negatively associated with psychological distress, deterioration in the child’s behaviour and functioning, and increased time spent with the child at home. An interaction analysis indicated that deterioration in a child’s behaviour was linked to QoL solely within the ASD group, while home atmosphere was associated with QoL in the non-ASD group. CONCLUSION: While the COVID-19 pandemic imposed similar challenges on both parental groups, there is evidence that it may have been more challenging for the ASD group. This calls for further examination concerning parents with special needs children, and accordingly, tailoring targeted and specific help for them.

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17. McFayden TC, Rutsohn J, Cetin G, Forsen E, Swanson MR, Meera SS, Wolff JJ, Elison JT, Shen MD, Botteron K, Dager SR, Estes A, Gerig G, McKinstry RC, Pandey J, Schultz R, St John T, Styner M, Truong Y, Zwaigenbaum L, Hazlett HC, Piven J, Girault JB. White matter development and language abilities during infancy in autism spectrum disorder. Mol Psychiatry;2024 (Feb 21)

White matter (WM) fiber tract differences are present in autism spectrum disorder (ASD) and could be important markers of behavior. One of the earliest phenotypic differences in ASD are language atypicalities. Although language has been linked to WM in typical development, no work has evaluated this association in early ASD. Participants came from the Infant Brain Imaging Study and included 321 infant siblings of children with ASD at high likelihood (HL) for developing ASD; 70 HL infants were later diagnosed with ASD (HL-ASD), and 251 HL infants were not diagnosed with ASD (HL-Neg). A control sample of 140 low likelihood infants not diagnosed with ASD (LL-Neg) were also included. Infants contributed expressive language, receptive language, and diffusion tensor imaging data at 6-, 12-, and 24 months. Mixed effects regression models were conducted to evaluate associations between WM and language trajectories. Trajectories of microstructural changes in the right arcuate fasciculus were associated with expressive language development. HL-ASD infants demonstrated a different developmental pattern compared to the HL-Neg and LL-Neg groups, wherein the HL-ASD group exhibited a positive association between WM fractional anisotropy and language whereas HL-Neg and LL-Neg groups showed weak or no association. No other fiber tracts demonstrated significant associations with language. In conclusion, results indicated arcuate fasciculus WM is linked to language in early toddlerhood for autistic toddlers, with the strongest associations emerging around 24 months. To our knowledge, this is the first study to evaluate associations between language and WM development during the pre-symptomatic period in ASD.

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18. Protic D, Hagerman R. State-of-the-art therapies for fragile X syndrome. Dev Med Child Neurol;2024 (Feb 22)

Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by a full mutation (> 200 CGG repeats) in the FMR1 gene. FXS is the leading cause of inherited intellectual disabilities and the most commonly known genetic cause of autism spectrum disorder. Children with FXS experience behavioral and sleep problems, anxiety, inattention, learning difficulties, and speech and language delays. There are no approved medications for FXS; however, there are several interventions and treatments aimed at managing the symptoms and improving the quality of life of individuals with FXS. A combination of non-pharmacological therapies and pharmacotherapy is currently the most effective treatment for FXS. Currently, several targeted treatments, such as metformin, sertraline, and cannabidiol, can be used by clinicians to treat FXS. Gene therapy is rapidly developing and holds potential as a prospective treatment option. Soon its efficacy and safety in patients with FXS will be demonstrated.

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19. Segre G, Clavenna A, Roberti E, Scarpellini F, Cartabia M, Pandolfini C, Tessarollo V, Costantino I, Bonati M. Pediatrician and parental evaluation of child neurodevelopment at 2 years of age. BMC Pediatr;2024 (Feb 22);24(1):137.

BACKGROUND: The early identification of infants with a risk for neurodevelopmental disorders in the first few years of life is essential for better developmental outcomes. Screenings should be carried out by combining the family pediatricians’ and parents’ perspectives, the two fundamental sources of information on children’s health. The present study has three aims: (a) to test the feasibility of parent-report instruments to detect warning signs in their children’s development; (b) to ascertain whether there is an agreement between the family pediatricians’ (FP) clinical judgments of warning signs and the parental perceptions; (c) to determine whether there is a link between parents’ distress and child development. METHODS: Within the NASCITA birth cohort, in addition to the family pediatrician’s clinical evaluation with routine tools, the Modified Checklist for Autism in Toddlers, Revised (M-CHAT-R) was completed by parents to assess the child’s language, social skills, behavior, and sensory areas. Parents were also asked to complete the Parenting Stress Index, Short Form (PSI-SF) to verify the magnitude of stress in the parent-child system. Univariate and multivariate analyses were performed to evaluate the association between child and parental characteristics and the presence of warning signs. RESULTS: The follow-up assessment was completed for 435 infants: 69 (15.8%) presented warning signs: 43 in the pediatrician’s assessment and 36 in the M-CHAT-R (10 in both). A total of 16 children (14 with warning signs) received a diagnosis after a specialist evaluation. Being male (OR 2.46, 95%CI: 1.23-4.91) and having sleep disorders (OR 2.43, 95% CI 1.17-5.04) was associated with a greater likelihood of warning signs in the multivariate analysis, while reading aloud was a protective factor (not exposed versus exposed (OR = 3.14; 95% CI 1.60-6.17). For 73 children (18.4%), at least one parent tested positive for PSI-SF. An increased prevalence of parental distress was observed in children with warning signs (OR 2.36, 95% CI 1.27-4.37). CONCLUSIONS: Integrating physician and parental perspectives during well-child visits and in clinical practice appears feasible and can improve the identification of children at risk of developmental disorders.

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20. Skafle I, Gabarron E, Nordahl-Hansen A. Social media shaping autism perception and identity. Autism;2024 (Feb 22):13623613241230454.

This study suggested that social media can provide important information about autism to autistic people. We interviewed 12 autistic adults (aged 18-49 years) and talked to them about the use of social media to find both general information and content specifically about autism, autism identity and online autistic communities. There is little research exploring how autistic people find information about autism on social media and how that makes them feel. Therefore, it is important to ask autistic people about their experiences with using social media to obtain content about autism. The 12 participants explained that when they searched for information about autism on the official health pages, they often felt that the information they found was insufficient and could not answer their questions. In addition, they searched on social media platforms for information about autism despite that they perceived social media as an unreliable source. On the social media platforms, many found content that was positive in relation to their autistic identities. The participants also found comfort in some of the forums and social media groups and received helpful advice. Nevertheless, some of the discussions were aggressive and the participants felt alienated, which did not provide a sense of community online. The findings from the study may advice on what is missing in the official pages about autism, and highlight the need to involve the autistic community in writing the content on such platforms.

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21. Soto-Icaza P, Soto-Fernández P, Kausel L, Márquez-Rodríguez V, Carvajal-Paredes P, Martínez-Molina MP, Figueroa-Vargas A, Billeke P. Oscillatory activity underlying cognitive performance in children and adolescents with autism: a systematic review. Front Hum Neurosci;2024;18:1320761.

Autism spectrum disorder (ASD) is a neurodevelopmental condition that exhibits a widely heterogeneous range of social and cognitive symptoms. This feature has challenged a broad comprehension of this neurodevelopmental disorder and therapeutic efforts to address its difficulties. Current therapeutic strategies have focused primarily on treating behavioral symptoms rather than on brain psychophysiology. During the past years, the emergence of non-invasive brain stimulation techniques (NIBS) has opened alternatives to the design of potential combined treatments focused on the neurophysiopathology of neuropsychiatric disorders like ASD. Such interventions require identifying the key brain mechanisms underlying the symptomatology and cognitive features. Evidence has shown alterations in oscillatory features of the neural ensembles associated with cognitive functions in ASD. In this line, we elaborated a systematic revision of the evidence of alterations in brain oscillations that underlie key cognitive processes that have been shown to be affected in ASD during childhood and adolescence, namely, social cognition, attention, working memory, inhibitory control, and cognitive flexibility. This knowledge could contribute to developing therapies based on NIBS to improve these processes in populations with ASD.

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22. Takada R, Toritsuka M, Yamauchi T, Ishida R, Kayashima Y, Nishi Y, Ishikawa M, Yamamuro K, Ikehara M, Komori T, Noriyama Y, Kamikawa K, Saito Y, Okano H, Makinodan M. Granulocyte macrophage colony-stimulating factor-induced macrophages of individuals with autism spectrum disorder adversely affect neuronal dendrites through the secretion of pro-inflammatory cytokines. Mol Autism;2024 (Feb 21);15(1):10.

BACKGROUND: A growing body of evidence suggests that immune dysfunction and inflammation in the peripheral tissues as well as the central nervous system are associated with the neurodevelopmental deficits observed in autism spectrum disorder (ASD). Elevated expression of pro-inflammatory cytokines in the plasma, serum, and peripheral blood mononuclear cells of ASD has been reported. These cytokine expression levels are associated with the severity of behavioral impairments and symptoms in ASD. In a prior study, our group reported that tumor necrosis factor-α (TNF-α) expression in granulocyte-macrophage colony-stimulating factor-induced macrophages (GM-CSF MΦ) and the TNF-α expression ratio in GM-CSF MΦ/M-CSF MΦ (macrophage colony-stimulating factor-induced macrophages) was markedly higher in individuals with ASD than in typically developed (TD) individuals. However, the mechanisms of how the macrophages and the highly expressed cytokines affect neurons remain to be addressed. METHODS: To elucidate the effect of macrophages on human neurons, we used a co-culture system of control human-induced pluripotent stem cell-derived neurons and differentiated macrophages obtained from the peripheral blood mononuclear cells of five TD individuals and five individuals with ASD. All participants were male and ethnically Japanese. RESULTS: Our results of co-culture experiments showed that GM-CSF MΦ affect the dendritic outgrowth of neurons through the secretion of pro-inflammatory cytokines, interleukin-1α and TNF-α. Macrophages derived from individuals with ASD exerted more severe effects than those derived from TD individuals. LIMITATIONS: The main limitations of our study were the small sample size with a gender bias toward males, the use of artificially polarized macrophages, and the inability to directly observe the interaction between neurons and macrophages from the same individuals. CONCLUSIONS: Our co-culture system revealed the non-cell autonomous adverse effects of GM-CSF MΦ in individuals with ASD on neurons, mediated by interleukin-1α and TNF-α. These results may support the immune dysfunction hypothesis of ASD, providing new insights into its pathology.

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