1. Alobaid AS, Almogbel E. Awareness of Autism Spectrum Disorder Among Pre-School Teachers in Qassim Region, Saudi Arabia. Health Psychol Res;2022;10(3):37676.

BACKGROUND: Autism Spectrum Disorder (ASD) is a lifelong condition that affects children and early intervention to provide an appropriate education for ASD children is necessary. OBJECTIVE: This study aimed to assess the awareness of ASD among preschool teachers in Qassim region, Saudi Arabia. METHODS: A cross-sectional study was carried out from December 2021 to February 2022 among preschool teachers in the Qassim region of Saudi Arabia. A random sampling technique was applied to select teachers through the Ministry of Education website. RESULTS: A total of 164 preschool teachers took part in the questionnaire. The most common age group was 30 – 40 years (58.5%). The total mean score of AKQ was 15.0 (SD 4.97). Nearly three-quarters (74.4%) of the teachers were classified as having a poor level of awareness while 25.6% had a good awareness level. Factors associated with a good awareness level include being a teacher (p=0.034) and having direct contact with autistic children (p=0.016). It is important to note that having more years of experience was significantly associated with knowledge regarding the correct pattern to diagnose children with autism (p=0.049). CONCLUSION: The awareness of preschool teachers regarding ASD was deficient. Teachers who are in contact with autistic students demonstrated better knowledge than the rest of the preschool teachers. Preschool teachers are expected to maintain high standards in their work to meet the children’s abnormal development and to identify them from an early stage, then refer them to diagnosis services.

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2. Anderson LK. Autistic experiences of applied behavior analysis. Autism;2022 (Aug 23):13623613221118216.

Autism spectrum disorder is a developmental disability affecting individuals across their entire lifespan. Autistic individuals have differences from nonautistic people (sometimes called allistic or neurotypical people) in social skills, communication, and atypical interests and/or repetitive behaviors. Applied behavior analysis is one of the first and most common interventions recommended for autistic children. However, autistic individuals argue that applied behavior analysis damages their mental health and treats them as though they are a problem to be fixed. This study examined the experiences of seven autistic individuals who received applied behavior analysis interventions as children to understand what autistic adults think about their applied behavior analysis interventions, how they feel about the applied behavior analysis interventions they received, and what recommendations autistic adults have for the future of applied behavior analysis. The findings include: Autistic adults remember traumatic events from applied behavior analysis, do not believe that they should be made to behave like their peers, gained some benefits but suffered significant negative long-term consequences, believe that applied behavior analysis is an unethical intervention, and recommend that applied behavior analysis practitioners listen to autistic people and consider using interventions in place of applied behavior analysis.

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3. Bo J, Shen B, Dong L, Pang Y, Xing Y, Zhang M, Xiang Y, Lasutschinkow PC, Li D. Response Time Modulates the Relationship Between Implicit Learning and Motor Ability in Children With and Without Autism Spectrum Disorders: A Preliminary Study. Motor Control;2022 (Aug 25):1-11.

Difficulty with implicit learning plays an important role in the symptomology of autism spectrum disorder (ASD). However, findings in motor learning are inconsistent. This study evaluated implicit sequence learning and its relationship with motor ability in children with and without ASD. We adopted a classic serial reaction time task with a retention task and three awareness tests. The Movement Assessment Battery for Children was administered to assess children’s motor ability. Significant learning differences between children with and without ASD were only found in retention but not immediately after the serial reaction time task. These findings suggest that the impaired implicit learning in ASD is characterized as impaired consolidation where the relatively permanent changes are missing. Exploratory moderation analyses revealed a significant relationship between implicit learning and motor ability for individuals with faster response time. We argue the importance of response speed for optimal learning and should be weighted more for future intervention in children with ASD.

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4. Brignell A, Marraffa C, Williams K, May T. Memantine for autism spectrum disorder. Cochrane Database Syst Rev;2022 (Aug 25);8(8):CD013845.

BACKGROUND: Autism spectrum disorder (ASD; also known as autism) is a developmental disability that begins in childhood and is typically seen in around 1% to 2% of children. It is characterised by social communication difficulties and repetitive and restricted behaviours and routines that can have a negative impact on a child’s quality of life, achievement at school, and social interactions with others. It has been hypothesised that memantine, which is traditionally used to treat dementia, may be effective in reducing the core symptoms of autism as well as some co-occurring symptoms such as hyperactivity and language difficulties. If memantine is being used to treat the core symptoms of autism, it is important to review the evidence of its effectiveness. OBJECTIVES: To assess the effects of memantine on the core symptoms of autism, including, but not limited to, social communication and stereotypical behaviours. SEARCH METHODS: We searched CENTRAL, MEDLINE, Embase, nine other databases and three trials registers up to February 2022. We also checked reference lists of key studies and checked with experts in the field for any additional papers. We searched for retractions of the included studies in MEDLINE, Embase, and the Retraction Watch Database. No retractions or corrections were found. SELECTION CRITERIA: We included randomised controlled trials (RCTs) of any dose of memantine compared with placebo in autistic people. We also included RCTs in which only one group received memantine, but both groups received the same additional therapy (e.g. a behaviour intervention). DATA COLLECTION AND ANALYSIS: We used standard Cochrane methods. Our primary outcomes were core autism symptoms and adverse effects. Secondary outcomes were language, intelligence, memory, adaptive behaviour, hyperactivity, and irritability. We used GRADE to assess certainty of evidence. MAIN RESULTS: We included three RCTs (two double-blind and one single-blind) with 204 participants that examined the short-term effect (immediately postintervention) of memantine in autistic people. Two studies took place in the USA and the other in Iran. All three studies focused on children and adolescents, with a mean age of 9.40 (standard deviation (SD) 2.26) years. Most participants were male (range across studies 73% to 87%). The diagnosis of ASD was based on the Diagnostic and Statistical Manual of Mental Disorders (4th edition; 4th edition, text revision; or 5th edition). To confirm the diagnosis, one study used the Autism Diagnostic Observation Schedule (ADOS) and the Autism Diagnostic Interview-Revised (ADI-R); one used ADOS, ADI-R or the Autism Diagnostic Interview Screener; and one used the Gilliam Autism Rating Scale. Dosage of memantine was based on the child’s weight and ranged from 3 mg to 15 mg per day. Comparisons Two studies examined memantine compared with placebo; in the other study, both groups had a behavioural intervention while only one group was given memantine. Risk of bias All studies were rated at high risk of bias overall, as they were at high or unclear risk of bias across all but four domains in one study, and all but two domains in the other two studies. One study was funded by Forest Laboratories, LLC, (Jersey City, New Jersey), Allergan. The study sponsor was involved in the study design, data collection (via contracted clinical investigator sites), analysis and interpretation of data, and the decision to present these results. The other two studies reported no financial support or sponsorship; though in one of the two, the study medication was an in-kind contribution from Forest Pharmaceuticals. Primary outcomes There was no clear evidence of a difference between memantine and placebo with respect to severity of core symptoms of autism, although we are very uncertain about the evidence. The standardised mean difference in autism symptoms score in the intervention group versus the control group was -0.74 standard deviations (95% confidence interval (CI) -2.07 to 0.58; 2 studies, 181 participants; very low-certainty evidence; medium effect size); lower scores indicate less severe autistic symptoms. Two studies (144 participants) recorded adverse effects that the authors deemed related to the study and found there may be no difference between memantine and placebo (odds ratio (OR) 0.64, 95% CI 0.17 to 2.39; low-certainty evidence). Secondary outcomes There may be no difference between memantine and placebo on language (2 studies, 144 participants; low-certainty evidence); memory or adaptive behaviour (1 study, 23 participants; both low-certainty evidence); or hyperactivity or irritability (1 study, 121 participants; both low-certainty evidence). AUTHORS’ CONCLUSIONS: It is unclear whether memantine is an effective treatment for autistic children. None of the three included trials reported on the effectiveness of memantine in adults. Further studies using rigorous designs, larger samples, longer follow-up and clinically meaningful outcome measures that are important to autistic people and their families will strengthen our knowledge of the effects of memantine in autism.

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5. Brownstein CA, Douard E, Mollon J, Smith R, Hojlo MA, Das A, Goldman M, Garvey E, Cabral K, Li J, Bowen J, Rao AS, Genetti C, Carroll D, Knowles EEM, Deaso E, Agrawal PB, Beggs AH, D’Angelo E, Almasy L, Alexander-Bloch A, Saci Z, Moreau CA, Huguet G, Deo AJ, Jacquemont S, Glahn DC, Gonzalez-Heydrich J. Similar Rates of Deleterious Copy Number Variants in Early-Onset Psychosis and Autism Spectrum Disorder. Am J Psychiatry;2022 (Aug 24):appiajp21111175.

OBJECTIVE: Copy number variants (CNVs) are strongly associated with neurodevelopmental and psychotic disorders. Early-onset psychosis (EOP), where symptoms appear before 18 years of age, is thought to be more strongly influenced by genetic factors than adult-onset psychotic disorders. However, the prevalence and effect of CNVs in EOP is unclear. METHODS: The authors documented the prevalence of recurrent CNVs and the functional impact of deletions and duplications genome-wide in 137 children and adolescents with EOP compared with 5,540 individuals with autism spectrum disorder (ASD) and 16,504 population control subjects. Specifically, the frequency of 47 recurrent CNVs previously associated with neurodevelopmental and neuropsychiatric illnesses in each cohort were compared. Next, CNV risk scores (CRSs), indices reflecting the dosage sensitivity for any gene across the genome that is encapsulated in a deletion or duplication separately, were compared between groups. RESULTS: The prevalence of recurrent CNVs was significantly higher in the EOP group than in the ASD (odds ratio=2.30) and control (odds ratio=5.06) groups. However, the difference between the EOP and ASD groups was attenuated when EOP participants with co-occurring ASD were excluded. CRS was significantly higher in the EOP group compared with the control group for both deletions (odds ratio=1.30) and duplications (odds ratio=1.09). In contrast, the EOP and ASD groups did not differ significantly in terms of CRS. CONCLUSIONS: Given the high frequency of recurrent CNVs in the EOP group and comparable CRSs in the EOP and ASD groups, the findings suggest that all children and adolescents with a psychotic diagnosis should undergo genetic screening, as is recommended in ASD.

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6. Coutelle R, Boedec M, Vermeulen K, Kummeling J, Koolen DA, Kleefstra T, Fournier C, Colin F, Strehle A, Geneviève D, Burger P, Mandel JL. The impact of lockdown on young people with genetic neurodevelopmental disabilities: a study with the international participatory database GenIDA. BMC Psychiatry;2022 (Aug 25);22(1):572.

BACKGROUND: Previous publications suggested that lockdown is likely to impact daily living issues of individuals with intellectual disabilities. The authors notably suspected an intensification of behavioural, eating and sleep problems. METHODS: To test these hypotheses, we conducted an international online survey about the impact of COVID-19-associated first lockdown on people with genetic neurodevelopmental disorders. This survey was carried out using GenIDA, an international participatory database collecting medical information on genetic neurodevelopmental disorders. Patients’ relatives took part in this online survey from 30/04/2020 to 09/06/2020. This survey adapted from GenIDA standard questionnaire requested information on diagnosis, lifestyle and was based on yes/no answers to questions regarding behaviour, diet, and sleep, in the 6-months period before lockdown and during lockdown. We also asked relatives to evaluate the intensity of these problems by severity level. Finally, relatives could freely comment in open fields on the medical and/or quality of life problems they had encountered during lockdown. RESULTS: In total 199 participants-144 children and 45 adults-with neurodevelopmental disorders (intellectual disability (79.4%) and/or autism spectrum disorder (21.6%)) of various genetic origins, with near-equal male/female (96/103) contribution and originating mainly from Europe and Northern America, were included. The average lockdown duration at time of the survey was 57 days. We did not find differences in the frequency of behavioural, eating and sleep problems before and during lockdown. Moreover, there was no apparent difference in the intensity of eating and sleep disorders between both periods. However, for persons with behavioural problems at both periods, relatives reported an increase in aggressivity, self-aggressivity, depressiveness, stereotypies, and restricted interests during lockdown, all of which might be interpreted as consequences of a lack of stimulation or a reaction to unexpected changes in daily habits. CONCLUSIONS: Our results support previous studies that suggest that the negative impact of lockdown does not depend on the intellectual disability per se but on the associated comorbidities such as behavioural disorders. This study addresses the need for prevention of behavioural disturbance in the vulnerable population with genetic neurodevelopmental disabilities.

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7. den Houting J, Higgins J, Isaacs K, Mahony J, Pellicano E. From ivory tower to inclusion: Stakeholders’ experiences of community engagement in Australian autism research. Front Psychol;2022;13:876990.

Autistic people, and other community stakeholders, are gaining increasing recognition as valuable contributors to autism research, resulting in a growing corpus of participatory autism research. Yet, we know little about the ways in which stakeholders practice and experience community engagement in autism research. In this study, we interviewed 20 stakeholders (academics, autistic people, family members/careers, research students, and service providers) regarding their experiences of community engagement in Australian autism research. Through reflexive thematic analysis of interview data, we generated four themes. First, our participants perceived academia as an « ivory tower, » disconnected from community members’ lives and priorities. Second, our participants identified that different stakeholders tended to hold different roles within their research projects: academics typically retained power and control, while community members’ roles tended toward tokenism. Third, our participants spoke of the need to « bridge the gap » between academia and the community, highlighting communication, accessibility, and planning as key to conducting effective participatory research. Lastly, participants emphasized the changing nature of autism research, describing participatory research as « the way of the future. » Our findings reflect both the progress achieved to date, and the challenges that lie ahead, as the field advances toward genuine co-production of autism research.

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8. Echevarria-Cooper DM, Hawkins NA, Misra SN, Huffman AM, Thaxton T, Thompson CH, Ben-Shalom R, Nelson AD, Lipkin AM, George AL, Jr., Bender KJ, Kearney JA. Cellular and behavioral effects of altered NaV1.2 sodium channel ion permeability in Scn2aK1422E mice. Hum Mol Genet;2022 (Aug 25);31(17):2964-2988.

Genetic variants in SCN2A, encoding the NaV1.2 voltage-gated sodium channel, are associated with a range of neurodevelopmental disorders with overlapping phenotypes. Some variants fit into a framework wherein gain-of-function missense variants that increase neuronal excitability lead to developmental and epileptic encephalopathy, while loss-of-function variants that reduce neuronal excitability lead to intellectual disability and/or autism spectrum disorder (ASD) with or without co-morbid seizures. One unique case less easily classified using this framework is the de novo missense variant SCN2A-p.K1422E, associated with infant-onset developmental delay, infantile spasms and features of ASD. Prior structure-function studies demonstrated that K1422E substitution alters ion selectivity of NaV1.2, conferring Ca2+ permeability, lowering overall conductance and conferring resistance to tetrodotoxin (TTX). Based on heterologous expression of K1422E, we developed a compartmental neuron model incorporating variant channels that predicted reductions in peak action potential (AP) speed. We generated Scn2aK1422E mice and characterized effects on neurons and neurological/neurobehavioral phenotypes. Cultured cortical neurons from heterozygous Scn2aK1422E/+ mice exhibited lower current density with a TTX-resistant component and reversal potential consistent with mixed ion permeation. Recordings from Scn2aK1442E/+ cortical slices demonstrated impaired AP initiation and larger Ca2+ transients at the axon initial segment during the rising phase of the AP, suggesting complex effects on channel function. Scn2aK1422E/+ mice exhibited rare spontaneous seizures, interictal electroencephalogram abnormalities, altered induced seizure thresholds, reduced anxiety-like behavior and alterations in olfactory-guided social behavior. Overall, Scn2aK1422E/+ mice present with phenotypes similar yet distinct from other Scn2a models, consistent with complex effects of K1422E on NaV1.2 channel function.

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9. El-Ansary A, Al-Onazi M, Alhowikan AM, Alghamdi MA, Al-Ayadhi L. Author Correction: Assessment of a combination of plasma anti-histone autoantibodies and PLA2/PE ratio as potential biomarkers to clinically predict autism spectrum disorders. Sci Rep;2022 (Aug 25);12(1):14509.

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10. Foldager M, Vestergaard M, Lassen J, Petersen LS, Oranje B, Aggernaes B, Simonsen E. Atypical Semantic Fluency and Recall in Children and Adolescents with Autism Spectrum Disorders Associated with Autism Symptoms and Adaptive Functioning. J Autism Dev Disord;2022 (Aug 24)

It is unclear whether children with autism spectrum disorders have atypical semantic fluency and lower memory for the semantics of words. Therefore, we examined semantic typicality, fluency and recall for the categories of fruits and animals in 60 children with autism aged 7-15 years (boys: 48/girls: 12) compared to 60 typically developing controls. Relative to controls, the autism group had reduced animal fluency, fruit typicality and recall for fruits. Notably, these measures were associated with more autistic-like symptoms and/or lower adaptive functioning across the autism and control groups. In conclusion, atypical semantics of fruits in the autism group may reflect development of idiosyncratic semantic networks while their lower semantic fluency and recall suggest impaired executive language functions.

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11. Grineski SE, Renteria R, Collins TW, Mangadu A, Alexander C, Bilder D, Bakian A. Associations between estimates of perinatal industrial pollution exposures and intellectual disability in Utah children. Sci Total Environ;2022 (Aug 25);836:155630.

While heavy metals exposure is associated with intellectual disability (ID), little is known about associations between industrial pollution and ID. The objective of this analysis is to assess associations between estimated perinatal industrial pollution exposures from the US Environmental Protection Agency’s Risk Screening Environmental Indicators Microdata and children’s ID risk. We conducted a case-control study of children born in Utah from 2000 to 2008 (n = 1679). Cases were identified through the Center for Disease Control’s Autism and Developmental Disabilities Monitoring Network’s Utah site and matched with controls based on birth year, sex, and birth county. We used multivariable generalized estimating equations to examine associations between estimated perinatal industrial pollution exposures and ID risk. The fourth quartile of industrial pollution exposure was associated with increased odds of ID relative to the first (Odds Ratio [OR]: 1.73, 95% Confidence Interval [CI]: 1.23-2.44) and second (OR: 1.67, CI: 1.19-2.35) quartiles. Similarly, the third quartile was associated with increased odds of ID relative to the first (OR: 1.47, CI: 1.06-2.03) and second (OR: 1.41, CI: 1.02-1.96) quartiles. Findings were robust to varied model specifications. Maternal residential exposures to industrial pollution were associated with increased ID prevalence in Utah. Since environmental correlates of ID are understudied, additional research is needed.

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12. Guler J, Stewart KA, de Vries PJ, Seris N, Shabalala N, Franz L. Conducting caregiver focus groups on autism in the context of an international research collaboration: Logistical and methodological lessons learned in South Africa. Autism;2022 (Aug 23):13623613221117012.

Most of the autism research to date has been conducted in high-income countries, with children and families typically from White, upper-middle-income backgrounds. However, we know there are significant inequalities that exist which influence how autistic individuals from diverse, underserved communities can access services they need. As many of these individuals have not been included in the majority of autism research to date, there is much we do not know about these individuals’ life experiences, which are critically needed to better inform the development and implementation of care for families from historically underrepresented groups. In this article, we describe the research process we took to conduct focus group discussions with 22 caregivers of young autistic children living in Cape Town, South Africa. We specifically describe the lessons we learned in implementing these focus groups and provide recommendations aimed at how to best reduce logistical and methodological challenges moving forward to improve research conducted in similar low-resource contexts.

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13. Gutiérrez C, Santoni JLM, Merino P, de Liaño PG. Ophthalmologic Manifestations in Autism Spectrum Disorder. Turk J Ophthalmol;2022 (Aug 25);52(4):246-251.

OBJECTIVES: The purpose of this study was to describe the ophthalmologic manifestations found in patients with autism spectrum disorder (ASD) and to assess their prevalence in the different types of ASD. MATERIALS AND METHODS: This prospective observational study included 344 patients with ASD seen over a period of 8.5 years. They were classified into four subgroups (autism, Asperger syndrome, pervasive developmental disorders not otherwise specified [PDD-NOS], and other). Data obtained from ophthalmological examinations were compared between the groups. Statistical analysis was performed with chi-square, Kruskal-Wallis, and Mann-Whitney tests. RESULTS: Refractive defects were detected in 48.4% of the patients, with the most prevalent being hyperopia and astigmatism. There was a higher prevalence of myopia in Asperger syndrome. Evaluation of extraocular motility revealed the presence of strabismus in 15.4% of patients, with a statistically significantly higher prevalence in autism and the « other » disorders group. The most frequent type of strabismus was exotropia. Convergence was found to be normal in 43.6% of the patients. Nystagmus was observed in only 0.9% of patients. In the binocular sensory tests performed, patients with Asperger syndrome had significantly better results compared to the other groups. Optic nerve abnormalities were found in 4% of patients, with significantly higher prevalence in the « other » disorders group. CONCLUSION: Ophthalmologic manifestations occur more frequently in patients with ASD than in the general child population. Of these, the most frequent are refractive defects and ocular motility disorder. Therefore, we consider it necessary to perform an ophthalmological evaluation in patients with ASDs.

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14. Hu W, Zhao M, Lian J, Li D, Wen J, Tan J. Lithium Cholesterol Sulfate: A Novel and Potential Drug for Treating Alzheimer’s Disease and Autism Spectrum Disorder. CNS Neurol Disord Drug Targets;2022 (Aug 25)

BACKGROUND AND OBJECTIVE: Recent studies have shown that lithium treatment can reduce symptoms of Alzheimer’s disease (AD) and Autism Spectrum Disorder (ASD). However, the present lithium salts clinically available have serious short-term and long-term side effects which requires frequent monitoring of blood chemistry and plasma lithium levels so as to avoid toxicity. Consequently, there is a demand for a safer and more effective lithium formulation to treat these diseases. METHODS: Hence, we firstly synthesized lithium cholesterol sulfate (LiCS) and compared its pharmacological effects with that of lithium chloride (LiCl) and sodium cholesterol sulfate (NaCS) on markers of neurodegenerative disease in cell cultures. RESULTS: LiCS was more potent than LiCl in increasing inhibitory GSK3β (Ser9) phosphorylation (pGSK3β) in both CHO and SH-SY5Y cells. These agents dose-dependently increased pGSK3β, starting at 10 µM for LiCS and 60µM for LiCl and maximally by approximately 100% at 60 µM for LiCS and 1.25 mM for LiCl, without altering total GSK3β levels. In HEK293/tau cells, LiCS reduced tau (Thr231) phosphorylation (ptau) starting at 10 µM and maximally by 63% at 40 µM without altering total tau levels, but ptau levels were not altered by LiCl at any dose between 60 µM and 1.25 mM. In BV2 cells, LiCS and LiCl decreased LPS-induced TNFα levels, starting at 20 µM for LiCS and 5 mM for LiCl, and maximally by approximately 30% at 80 µM for LiCS and 20 mM for LiCl. NaCS at any dose between 5 and 90 µM did not alter pGSK3β, ptau or LPS-induced TNFα. CONCLUSION: LiCS may become a new drug with good pharmacological potential for the treatment of neurodegenerative disorders such as AD and ASD by allowing lithium to more readily access intracellular pathological processes.

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15. Hu Y, Lauffer P, Stewart M, Codner G, Mayerl S, Heuer H, Ng L, Forrest D, van Trotsenburg P, Jongejan A, Fliers E, Hennekam R, Boelen A. An animal model for Pierpont syndrome: a mouse bearing the Tbl1xr1Y446C/Y446C mutation. Hum Mol Genet;2022 (Aug 25);31(17):2951-2963.

Pierpont syndrome is a rare disorder characterized mainly by global developmental delay, unusual facial features, altered fat distribution in the limbs and hearing loss. A specific mutation (p.Tyr446Cys) in TBL1XR1, encoding a WD40 repeat-containing protein, which is a component of the SMRT/NCoR (silencing mediator retinoid and thyroid hormone receptors/nuclear receptor corepressors), has been reported as the genetic cause of Pierpont syndrome. Here, we used CRISPR-cas9 technology to generate a mutant mouse with the Y446C mutation in Tbl1xr1, which is also present in Pierpont syndrome. Several aspects of the phenotype were studied in the mutant mice: growth, body composition, hearing, motor behavior, thyroid hormone state and lipid and glucose metabolism. The mutant mice (Tbl1xr1Y446C/Y446C) displayed delayed growth, altered body composition with increased relative lean mass and impaired hearing. Expression of several genes involved in fatty acid metabolism differed in white adipose tissue, but not in liver or muscle of mutant mice compared to wild-type mice (Tbl1xr1+/+). No difference in thyroid hormone plasma concentrations was observed. Tbl1xr1Y446C/Y446C mice can be used as a model for distinct features of Pierpont syndrome, which will enable future studies on the pathogenic mechanisms underlying the various phenotypic characteristics.

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16. Huebschman JL, Monterrey CA, Foster DM, Omoregie CC, Cakir AE, Sevilla-Gutierrez A, Chow EC, Essoh A, Guo Y, Smith LN. The role of the dorsal striatum in a mouse model for fragile X syndrome: Behavioral and dendritic spine assessment. Brain Res;2022 (Aug 25):148060.

Fragile X syndrome (FXS), a leading monogenic cause of autism spectrum disorders (ASDs), typically occurs as the result of a mutation silencing the Fmr1 gene, preventing production of the fragile X messenger ribonucleoprotein (FMRP). FXS is characterized, in part, by hyperactivity, impaired behavioral flexibility, and the development of repetitive, or stereotyped, behaviors. While these phenotypes are influenced by striatal activity, few studies have examined FXS or FMRP in the context of striatal function. Here, we report enhanced repetitive behaviors in Fmr1 knockout (KO) compared to wild type (WT) mice according to multiple measures, including quantity and intensity of stereotypic behaviors in an open field and nose poking activity in an unbaited hole board test. However, using a baited version of the hole board assay, we see that KO mice do show some behavioral flexibility in that they make changes in their nose poking behavior following familiarization with an appetitive bait. By contrast, repeated exposure to cocaine (15 mg/kg) promotes repetitive behavior in both WT and KO mice, in a manner mostly independent of genotype. Branch length alterations in medium spiny neurons (MSNs) of the dorsolateral striatum (DLS) are similar between WT cocaine-treated and KO saline-treated mice, possibly suggesting shared synaptic mechanisms. Overall, we suggest that scoring open field behavior is a sensitive measure for repetitive sensory-motor behaviors in Fmr1 KO mice. In addition, our findings show that synaptic contacts onto MSNs in the DLS should be examined in conjunction with measures of stereotypical behavior.

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17. Kadlaskar G, Mao PH, Iosif AM, Amaral D, Wu Nordahl C, Miller M. Patterns of sensory processing in young children with autism: Differences in autism characteristics, adaptive skills, and attentional problems. Autism;2022 (Aug 23):13623613221115951.

Research has found differences in responding to various sensory stimuli among autistic individuals, which are associated with social and adaptive skills. However, our understanding of sensory profiles in autism has been complicated due to the variable presentation of sensory symptoms. One way to better understand variability in sensory symptoms is to use advanced statistical approaches, such as latent profile analysis, that allow for the identification of more similar sensory classes in otherwise variable groups. We used the Short Sensory Profile to identify homogeneous classes of sensory reactivity in autistic children based on both severity and modality and examined whether sensory classes differed in terms of autism characteristics, adaptive skills, and attention-deficit/hyperactivity disorder symptoms. Based on the pattern of both severity and modality, four sensory classes emerged and were named Moderate/Mixed (35.5%; probable-to-definite differences in all modalities except in movement sensitivity and low energy/weakness), Severe/Mixed (8.5%; definite sensory differences in all modalities except in low energy/weakness), Moderate/Broad (14.6%; probable-to-definite differences in all modalities), and Low/Mixed (41.1%; typical scores in most modalities with probable differences in taste/smell sensitivity, under-responsive/seeks sensation, and auditory filtering). The Severe/Mixed class exhibited greater problems in a variety of areas such as social, adaptive, and attention-deficit/hyperactivity disorder symptoms, whereas the Low/Mixed class showed overall fewer problems. This may provide insight for clinicians and researchers aiming to understand whether autistic children who exhibit distinct sensory patterns are more or less likely to also experience social, adaptive, and/or attention/behavior-related difficulties.

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18. Karunakar P, Munisamy M, Maya M, Sahadevan G, Chandrasekaran V. A 7-month-old boy with global developmental delay, hypotonia, and abnormal hair. Pediatr Dermatol;2022 (Jul);39(4):634-636.

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19. Kazak A, Ramirez AP, Scialla MA, Alderfer MA, Sewell-Roberts C, Treadwell-Deering D. Adaptation and pilot implementation of the Psychosocial Assessment Tool for Autism Spectrum Disorders (PAT-ASD). J Autism Dev Disord;2022 (Aug 24):1-10.

Recognizing the multifaceted and chronic demands on families of children with Autism Spectrum Disorder (ASD) and challenges in providing care matched to need, we adapted the Psychosocial Assessment Tool (PAT), a brief caregiver-report screener of family psychosocial risk, for this population. Study methods included literature review, focus groups with providers, and feedback from caregivers. The PAT-ASD is consistent with the original PAT, with new items reflecting core behavioral manifestations of ASD and parent and family challenges associated with chronicity. The PAT-ASD was implemented in a four-month pilot and was completed online by 59% of families. Although further testing of its validity is necessary, the PAT-ASD is a promising means of assessing family psychosocial risk for families of children with ASD.

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20. Khanlou N, Khan A, Kurtz Landy C, Srivastava R, McMillan S, VanDeVelde-Coke S, Vazquez LM. Nursing care for persons with developmental disabilities: Review of literature on barriers and facilitators faced by nurses to provide care. Nurs Open;2022 (Aug 24)

AIMS: To identify barriers and facilitators to nursing care of individuals with developmental disabilities (DDs). BACKGROUND: Individuals with DDs experience health disparities. Nurses, although well positioned to provide optimal care to this population, face challenges. DESIGN: Narrative review of extant published peer-reviewed literature. DATA SOURCES: Electronic databases, ProQuest and EBSCO, were searched for studies published in English between 2000 and 2019. REVIEW METHODS: Three reviewers reviewed abstracts and completed data extraction. Knowledge synthesis was completed by evaluating the 17 selected studies. RESULTS: Emerging themes were: (1) barriers and challenges to nursing interventions; (2) facilitators to nursing care; and (3) recommendations for nursing education, policy and practice. CONCLUSION: Nursing has the potential to be a key partner in supporting the health of people with DDs. IMPACT: There is a need for specific education and training, so nurses are better equipped to provide care for people with DDs.

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21. Li B, Blijd-Hoogewys E, Stockmann L, Vergari I, Rieffe C. Toward feeling, understanding, and caring: The development of empathy in young autistic children. Autism;2022 (Aug 23):13623613221117955.

Empathy is a highly valued human capacity. Yet, autistic people are often portrayed as lacking in empathy. Recent research, which views empathy as a complex construct emerging from multiple interrelated emotional and cognitive processes, argues that, although many autistic people do have difficulty understanding others’ emotions, and this may hinder them from responding to others in a prosocial manner, they are not indifferent to other people’s feelings. Hoping to contribute to a better understanding of the unique challenges that autistic children face in their empathy development, we followed the development of four empathy abilities: emotion contagion, attention to others, emotion acknowledgment, and prosocial actions, in 1- to 6-year-old autistic children, in comparison with non-autistic children. Once a year, for 4 consecutive years, children’s empathy abilities were evaluated by experimenters who acted out emotional episodes to provoke empathy in children, and by parents who filled out empathy questionnaires. We found that autistic children experienced indeed more difficulty attending to others, acknowledging others’ emotions, and initiating prosocial actions toward others. However, according to parents, they did not differ from their non-autistic peers in feeling along with others’ negative emotions. This indicates that it might not be the case that autistic children did not want to act empathetically toward others. Rather, they might not know how to do so. Notably, despite these difficulties, when looking at children’s developmental trajectories, autistic children showed similar improvements over time as non-autistic children. This provides evidence that autistic children have the potential to learn and to improve their empathy skills.

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22. Maldonado Moscoso PA, Anobile G, Burr DC, Arrighi R, Castaldi E. Symmetry as a grouping cue for numerosity perception. Sci Rep;2022 (Aug 24);12(1):14418.

To estimate the number of objects in an image, each element needs to be segregated as a single unit. Several principles guide the process of element identification, one of the strongest being symmetry. In the current study, we investigated how symmetry affects the ability to rapidly estimate the number of objects (numerosity). Participants judged the numerosity of asymmetric or symmetric arrays of various numerosities. The results show that the numerosity of symmetrical arrays was significantly underestimated at low numerosities, but the effect was greatly reduced at higher numerosities. Adding an additional axis of symmetry (double symmetry) further reduced perceived numerosity. The magnitude of the symmetry-driven underestimation was inversely correlated with autistic personality traits, consistent with previous work associating autistic traits with perceptual grouping. Overall, these results support the idea that perceived numerosity relies on object segmentation and grouping cues, with symmetry playing a key role.

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23. Oakley BFM, Loth E, Jones EJH, Chatham CH, Murphy DG. Advances in the identification and validation of autism biomarkers. Nat Rev Drug Discov;2022 (Aug 25)

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24. Płatos M, Wojaczek K, Laugeson EA. Effects of Social Skills Training for Adolescents on the Autism Spectrum: a Randomized Controlled Trial of the Polish Adaptation of the PEERS® Intervention via Hybrid and In-Person Delivery. J Autism Dev Disord;2022 (Aug 24):1-15.

The study examined the efficacy of the Polish adaptation of the PEERS® curriculum for adolescents on the autism spectrum. Twenty-nine adolescents (aged 11-16) were randomized into a Treatment and a Waitlist Control Group. Due to COVID-19-related restrictions, the Treatment Group received part of the intervention online (in hybrid mode). Results showed large effects of PEERS® increasing the teens’ social skills, knowledge about social skills, and the number of get-togethers with peers. Most of the effects were maintained over a six-month follow-up period. There was no impact of the delivery mode on the treatment effects. The study demonstrates the feasibility and efficacy of the Polish adaptation of PEERS® and encourages future research on the online/hybrid delivery of Social Skills Training.

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25. Roubinov D, Don B, Blades R, Epel E. Is it me or my child? The association between maternal depression and children’s behavior problems in mothers and their children with or without autism. Fam Process;2022 (Aug 25):e12810.

Bidirectional associations between maternal depression and child behavior problems have been reported in prior research, however, few studies examine these relations across varied family contexts. This study examined parenting stress and child diagnosis of autism spectrum disorder (ASD) as moderators of bidirectional associations between maternal depression and child behavior problems over time. Our sample included 86 mother-child dyads who reported maternal depressive symptoms, child behavior problems, and parenting stress at three time points over more than 1 year. Approximately half were mothers of children with ASD (n = 41) and half were mothers of neurotypical children (n = 45). We tested the bidirectional associations between maternal depressive symptoms and children’s behavior problems and the potential moderating role of parental stress or child ASD diagnosis on these bidirectional associations using aggregated, lagged, and linear mixed models. Even after controlling for lagged maternal depressive symptoms, child behavior problems were associated with greater subsequent maternal depression at the between-person level, but not at the within-person level. The converse relation of prior maternal depressive symptoms on subsequent child behavior problems was not significant. Neither parenting stress nor child ASD diagnosis moderated bidirectional associations between maternal depressive symptoms and children’s behavior problems. Child behavior predicted maternal depression, but the converse was not true, regardless of parenting stress levels or child’s ASD diagnosis. For mothers experiencing elevated parenting stress and those with children with ASD, this may help alleviate elevated feelings of guilt related to their children’s behavior problems.

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26. Schachar RJ, Dupuis A, Arnold PD, Anagnostou E, Kelley E, Georgiades S, Nicolson R, Townes P, Burton CL, Crosbie J. Autism Spectrum Disorder and Attention-Deficit/Hyperactivity Disorder: Shared or Unique Neurocognitive Profiles?. Res Child Adolesc Psychopathol;2022 (Aug 25)

Attention-deficit/hyperactivity (ADHD) and autism spectrum (ASD) disorders are commonly co-occurring conditions characterized by neurocognitive impairments. Few studies have directly compared neurocognitive profiles in ADHD and ASD and fewer still have controlled for comorbidity of ADHD and ASD. All direct comparisons have been in clinic samples, leaving the question of generalizability of results unaddressed. We compared neurocognitive performance in clinically ascertained ASD (n = 261) and ADHD (n = 423) cases and controls (n = 162), 6.0-17.9 years of age. We also compared ASD (n = 190) and ADHD (n = 926) cases ascertained in the community with controls (n = 14,842) of similar age. Using the stop-signal task (SST), we measured response inhibition (stop-signal reaction time-SSRT), sustained attention (defined as reaction time variability-RTV), and reaction time (RT). We controlled for comorbidity using ADHD and ASD trait scores and categorically-defined ADHD. Compared with controls, both clinic ADHD and ASD had significantly longer SSRT and RTV than controls and did not differ from each other. ADHD traits accounted for neurocognitive impairment in ASD, but not vice versa. There were no group differences for RT. Similar patterns of neurocognitive impairment were observed in the community sample. In the largest direct comparison of ADHD and ASD to date, we found impaired response inhibition and sustained attention in both disorders. However, neurocognitive impairment in ASD was almost completely accounted for by comorbid ADHD. Results generalized in the community sample indicating that referral bias alone did not drive results. Response inhibition and sustained attention likely play a role in ADHD and ASD.

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27. Stone-Heaberlin M, Hartley N, Lynch JD, Fisher AP, Justice N. Implementation of a Parent-Mediated Discrete Trial Teaching Intervention for Children with Autism Spectrum Disorder. Behav Anal Pract;2022 (Aug 18):1-5.

For young children with autism spectrum disorder (ASD), early intensive intervention is imperative. The Bridge Skill Development Program is a parent-mediated intervention designed to « bridge the gap » during the period after a diagnosis of ASD while children wait for intensive intervention. This program introduces applied behavior analysis (ABA) teaching techniques, including the use of parent-mediated discrete trial teaching (DTT), to promote skill acquisition of target behaviors. Significant improvements were observed across four target behaviors taught to all participants. The program also aims to connect participants to intensive ABA programming.

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28. Vanes LD, Tye C, Tournier JD, Combes AJE, Shephard E, Liang H, Barker GJ, Nosarti C, Bolton P. White matter disruptions related to inattention and autism spectrum symptoms in tuberous sclerosis complex. Neuroimage Clin;2022 (Aug 25);36:103163.

Tuberous sclerosis complex is a rare genetic multisystem condition that is associated with a high prevalence of neurodevelopmental disorders such as autism and attention-deficit/hyperactivity disorder. The underlying neural mechanisms of the emergence of these symptom domains in tuberous sclerosis complex remain unclear. Here, we use fixel-based analysis of diffusion-weighted imaging, which allows for the differentiation between multiple fibre populations within a voxel, to compare white matter properties in 16 participants with tuberous sclerosis complex (aged 11-19) and 12 age and sex matched control participants. We further tested associations between white matter alterations and autism and inattention symptoms as well as cognitive ability in participants with tuberous sclerosis complex. Compared to controls, participants with tuberous sclerosis complex showed reduced fibre density cross-section (FDC) in the dorsal branch of right superior longitudinal fasciculus and bilateral inferior longitudinal fasciculus, reduced fibre density (FD) in bilateral tapetum, and reduced fibre cross-section (FC) in the ventral branch of right superior longitudinal fasciculus. In participants with tuberous sclerosis complex, the extent of FDC reductions in right superior longitudinal fasciculus was significantly associated with autism traits (social communication difficulties and restricted, repetitive behaviours), whereas FDC reductions in right inferior longitudinal fasciculus were associated with inattention. The observed white matter alterations were unrelated to cognitive ability. Our findings shed light on the fibre-specific biophysical properties of white matter alterations in tuberous sclerosis complex and suggest that these regional changes are selectively associated with the severity of neurodevelopmental symptoms.

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29. Webb SJ, Naples AJ, Levin AR, Hellemann G, Borland H, Benton J, Carlos C, McAllister T, Santhosh M, Seow H, Atyabi A, Bernier R, Chawarska K, Dawson G, Dziura J, Faja S, Jeste S, Murias M, Nelson CA, Sabatos-DeVito M, Senturk D, Shic F, Sugar CA, McPartland JC. The Autism Biomarkers Consortium for Clinical Trials: Initial Evaluation of a Battery of Candidate EEG Biomarkers. Am J Psychiatry;2022 (Aug 24):appiajp21050485.

OBJECTIVE: Numerous candidate EEG biomarkers have been put forward for use in clinical research on autism spectrum disorder (ASD), but biomarker development has been hindered by limited attention to the psychometric properties of derived variables, inconsistent results across small studies, and variable methodology. The authors evaluated the basic psychometric properties of a battery of EEG assays for their potential suitability as biomarkers in clinical trials. METHODS: This was a large, multisite, naturalistic study in 6- to 11-year-old children who either had an ASD diagnosis (N=280) or were typically developing (N=119). The authors evaluated an EEG battery composed of well-studied assays of resting-state activity, face perception (faces task), biological motion perception, and visual evoked potentials (VEPs). Biomarker psychometrics were evaluated in terms of acquisition rates, construct performance, and 6-week stability. Preliminary evaluation of use was explored through group discrimination and phenotypic correlations. RESULTS: Three assays (resting state, faces task, and VEP) show promise in terms of acquisition rates and construct performance. Six-week stability values in the ASD group were moderate (intraclass correlations ≥0.66) for the faces task latency of the P1 and N170, the VEP amplitude of N1 and P1, and resting alpha power. Group discrimination and phenotype correlations were primarily observed for the faces task P1 and N170. CONCLUSIONS: In the context of a large-scale, rigorous evaluation of candidate EEG biomarkers for use in ASD clinical trials, neural response to faces emerged as a promising biomarker for continued evaluation. Resting-state activity and VEP yielded mixed results. The study’s biological motion perception assay failed to display construct performance. The results provide information about EEG biomarker performance that is relevant for the next stage of biomarker development efforts focused on context of use.

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30. Wittkopf S, Langmann A, Roessner V, Roepke S, Poustka L, Nenadić I, Stroth S, Kamp-Becker I. Conceptualization of the latent structure of autism: further evidence and discussion of dimensional and hybrid models. Eur Child Adolesc Psychiatry;2022 (Aug 25)

Autism spectrum disorder (ASD) might be conceptualized as an essentially dimensional, categorical, or hybrid model. Yet, current empirical studies are inconclusive and the latent structure of ASD has explicitly been examined only in a few studies. The aim of our study was to identify and discuss the latent model structure of behavioral symptoms related to ASD and to address the question of whether categories and/or dimensions best represent ASD symptoms. We included data of 2920 participants (1-72 years of age), evaluated with the Autism Diagnostic Observation Schedule (Modules 1-4). We applied latent class analysis, confirmatory factor analysis, and factor mixture modeling and evaluated the model fit by a combination of criteria. Based on the model selection criteria, the model fits, the interpretability as well as the clinical utility we conclude that the hybrid model serves best for conceptualization and assessment of ASD symptoms. It is both grounded in empirical evidence and in clinical usefulness, is in line with the current classification system (DSM-5) and has the potential of being more specific than the dimensional approach (decreasing false positive diagnoses).

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