1. Andrade LF, Haq Z, Abdi P, Diaz MJ, Yosipovitch G. Association of Autism with Atopic Dermatitis: A Case-Control Study. Dermatitis;2024 (Jun 11)

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2. Demirpençe Seçinti D, Diş D, Albayrak ZS, Şen E. Depression and parental distress among caregivers of autistic children: a serial mediator analysis in caregivers of autistic children. BMC Psychol;2024 (Jun 10);12(1):339.

BACKGROUND: This study aimed to investigate the relationship between the severity of autism, emotional and behavioral problems of autistic children, internalized stigma, depressive symptoms, and primary caregiver parental stress. Specifically, we explored the mediating role of internal stigmatization and total difficulties of individuals with autism on parenting stress and depressive symptoms of the primary caregiver. METHOD: Mothers of 93 children with autism were included in the study. The mothers were given the Beck Depression Inventory (BDI), The Internalized Stigma of Mental Illness Scale (ISMI), the Autism Behavior Checklist, the Parenting Stress Index-Short Form, Strength, and Difficulties Questionnaire -Parent Form (SDQ-P). RESULTS: As a result of our study, the emotional and behavioral problems of the child and the internalized stigmatization felt by the parent played a mediator role in the relationship between the child’s autism severity and the parent’s stress and depressive symptoms. CONCLUSIONS: Our findings highlight that internalized stigmatization and behavioral characteristics of individuals with autism are among the most critical problems for their primary caregivers. These results have important implications for the development of interventions aimed at reducing the internalized stigma experienced by primary caregivers of individuals with autism and for improving their mental health outcomes.

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3. Dong H, Ma X, Chen Z, Zhang H, Song J, Jin Y, Li M, Lu M, He R, Zhang Y, Yang Y. Clinical features and ALDH5A1 gene findings in 13 Chinese cases with succinic semialdehyde dehydrogenase deficiency. BMC Med Genomics;2024 (Jun 11);17(1):158.

BACKGROUND AND AIMS: To investigate the clinical features, ALDH5A1 gene variations, treatment, and prognosis of patients with succinic semialdehyde dehydrogenase (SSADH) deficiency. MATERIALS AND METHODS: This retrospective study evaluated the findings in 13 Chinese patients with SSADH deficiency admitted to the Pediatric Department of Peking University First Hospital from September 2013 to September 2023. RESULTS: Thirteen patients (seven male and six female patients; two sibling sisters) had the symptoms aged from 1 month to 1 year. Their urine 4-hydroxybutyrate acid levels were elevated and were accompanied by mildly increased serum lactate levels. Brain magnetic resonance imaging (MRI) showed symmetric abnormal signals in both sides of the globus pallidus and other areas. All 13 patients had psychomotor retardation, with seven showing epileptic seizures. Among the 18 variants of the ALDH5A1 gene identified in these 13 patients, six were previously reported, while 12 were novel variants. Among the 12 novel variants, three (c.85_116del, c.206_222dup, c.762C > G) were pathogenic variants; five (c.427delA, c.515G > A, c.637C > T, c.755G > T, c.1274T > C) were likely pathogenic; and the remaining four (c.454G > C, c.479C > T, c.1480G > A, c.1501G > C) were variants of uncertain significance. The patients received drugs such as L-carnitine, vigabatrin, and taurine, along with symptomatic treatment. Their urine 4-hydroxybutyric acid levels showed variable degrees of reduction. CONCLUSIONS: A cohort of 13 cases with early-onset SSADH deficiency was analyzed. Onset of symptoms occurred from 1 month to 1 year of age. Twelve novel variants of the ALDH5A1 gene were identified.

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4. Harrington CN, Morales A, Bernstein JA, Calderwood L. Implications of Provider Specialty, Test Type, and Demographic Factors on Genetic Testing Outcomes for Patients with Autism Spectrum Disorder. J Autism Dev Disord;2024 (Jun 11)

A minority of patients with autism spectrum disorder (ASD) are offered genetic testing by their providers or referred for genetics evaluation despite published guidelines and consensus statements supporting genetics-informed care for this population. This study aimed to investigate the ordering habits of providers of different specialties and to additionally assess the diagnostic utility of genetic testing by test type, patient sex, and race and ethnicity. We retrospectively analyzed data associated with orders for the indication of ASD from a large clinical laboratory over 6 years (2017-2022). Geneticists and neurologists were more likely than other specialists to order exome sequencing and neurodevelopmental (NDD) panel testing while other providers were more likely to order chromosomal microarray (CMA) and Fragile X testing. Exome had the highest diagnostic yield (24.5%), followed by NDD panel (6.4%), CMA (6.2%), and Fragile X testing (0.4%). Females were 1.4x (95% CI: 1.2-1.7) more likely than males to receive a genetic diagnosis. However, for Fragile X, males had a higher diagnostic yield than females (0.4% vs 0.2%). Our findings highlight the need to enable non-genetics providers to order comprehensive genetic testing or promote referral to genetics following negative CMA and/or Fragile X testing. Our data supports that ASD testing should include exome, CMA, and other clinically indicated tests, as first-tier tests, with the consideration of panel testing, in cases where exome sequencing is not an option. Lastly, our study helps to inform expectations for genetic testing yield by test type and patient presentation.

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5. Higuchi H, Miyake K, Miyake S, Fujimoto M, Nishioka Y, Maeda S, Miyawaki T. Optimising the oral midazolam dose for premedication in people with intellectual disabilities and/or autism spectrum disorder. J Appl Res Intellect Disabil;2024 (Jul);37(4):e13265.

BACKGROUND: In people with intellectual disabilities and/or autism spectrum disorder, oral midazolam (OM) is very effective as premedication for facilitating medical treatment. In this retrospective study, we investigated the optimal dosage of OM for premedication. METHODS: Patients with intellectual disability and/or autism spectrum disorder who were given OM as a premedication were selected from anaesthesia records. The primary outcome variable was the dose of OM (mg/kg) required to produce an adequate sedation. RESULTS: The mean OM dose required was 0.32 ± 0.10 mg/kg. The required OM dose decreased significantly as age and weight increased, and age and weight were also shown to be significantly associated with the dose of OM in the multivariate linear regression analysis. CONCLUSION: The dosage of OM to achieve adequate sedation should decrease as the patient ages. Furthermore, adequate sedation can be achieved with even lower doses of OM in obese people.

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6. Kiarashi Y, Suresha PB, Rad AB, Reyna MA, Anderson C, Foster J, Lantz J, Villavicencio T, Hamlin T, Clifford GD. Off-body Sleep Analysis for Predicting Adverse Behavior in Individuals with Autism Spectrum Disorder. medRxiv;2024 (Jun 11)

Poor sleep quality in Autism Spectrum Disorder (ASD) individuals is linked to severe daytime behaviors. This study explores the relationship between a prior night’s sleep structure and its predictive power for next-day behavior in ASD individuals. The motion was extracted using a low-cost near-infrared camera in a privacy-preserving way. Over two years, we recorded overnight data from 14 individuals, spanning over 2,000 nights, and tracked challenging daytime behaviors, including aggression, self-injury, and disruption. We developed an ensemble machine learning algorithm to predict next-day behavior in the morning and the afternoon. Our findings indicate that sleep quality is a more reliable predictor of morning behavior than afternoon behavior the next day. The proposed model attained an accuracy of 74% and a F1 score of 0.74 in target-sensitive tasks and 67% accuracy and 0.69 F1 score in target-insensitive tasks. For 7 of the 14, better-than-chance balanced accuracy was obtained (p-value<0.05), with 3 showing significant trends (p-value<0.1). These results suggest off-body, privacy-preserving sleep monitoring as a viable method for predicting next-day adverse behavior in ASD individuals, with the potential for behavioral intervention and enhanced care in social and learning settings.

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7. Krämer K. Daily briefing: Autism triples risk of Parkinson’s-like symptoms. Nature;2024 (May 29)

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8. La Valle C, Shen L, Shih W, Kasari C, Shire S, Lord C, Tager-Flusberg H. Does Gestural Communication Influence Later Spoken Language Ability in Minimally Verbal Autistic Children?. J Speech Lang Hear Res;2024 (Jun 11):1-14.

PURPOSE: The current study examined the predictive role of gestures and gesture-speech combinations on later spoken language outcomes in minimally verbal (MV) autistic children enrolled in a blended naturalistic developmental/behavioral intervention (Joint Attention, Symbolic Play, Engagement, and Regulation [JASPER] + Enhanced Milieu Teaching [EMT]). METHOD: Participants were 50 MV autistic children (40 boys), ages 54-105 months (M = 75.54, SD = 16.45). MV was defined as producing fewer than 20 spontaneous, unique, and socially communicative words. Autism symptom severity (Autism Diagnostic Observation Schedule-Second Edition) and nonverbal cognitive skills (Leiter-R Brief IQ) were assessed at entry. A natural language sample (NLS), a 20-min examiner-child interaction with specified toys, was collected at entry (Week 1) and exit (Week 18) from JASPER + EMT intervention. The NLS was coded for gestures (deictic, conventional, and representational) and gesture-speech combinations (reinforcing, disambiguating, supplementary, other) at entry and spoken language outcomes: speech quantity (rate of speech utterances) and speech quality (number of different words [NDW] and mean length of utterance in words [MLUw]) at exit using European Distributed Corpora Project Linguistic Annotator and Systematic Analysis of Language Transcripts. RESULTS: Controlling for nonverbal IQ and autism symptom severity at entry, rate of gesture-speech combinations (but not gestures alone) at entry was a significant predictor of rate of speech utterances and MLUw at exit. The rate of supplementary gesture-speech combinations, in particular, significantly predicted rate of speech utterances and NDW at exit. CONCLUSION: These findings highlight the critical importance of gestural communication, particularly gesture-speech (supplementary) combinations in supporting spoken language development in MV autistic children.

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9. Lee SH, Jeon JJ, Lee WS, Lee S. Autoimmune connective tissue and dermatological diseases in children with autism spectrum disorder. J Invest Dermatol;2024 (Jun 11)

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10. Ltaief SM, Elsayed AK, Al-Shammari AR. Generation of nine induced pluripotent stem cell lines from six young children with autism spectrum disorder and three matched control subjects from the Qatari population. Stem Cell Res;2024 (Jun 11);79:103470.

Autism spectrum disorder (ASD) is a complex developmental disorder characterized by challenges with social interactions and restricted/repetitive behaviors. Here, we recruited nine Qatari children of Arab ethnicity (males, aged 2-4 years), including six ASD subjects (n = 3 mild-to-moderate ASD and n = 3 severe ASD) and three control subjects. We generated induced pluripotent stem cell (iPSC) lines from PBMC samples of these subjects using non-integrating Sendai viral vectors. These iPSC lines were fully characterized and exhibited pluripotency characteristics, normal karyotypes, and trilineage differentiation potential. These iPSC lines provide valuable cell models for understanding ASD pathophysiology and developing new therapeutics for ASD.

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11. Nadeem NJ, Moawad A, Howatson S, Ahmed A, Cassell D. Case report: Diagnostic challenges in an adolescent case of autistic catatonia. Front Psychiatry;2024;15:1386949.

Catatonia is a complex neuropsychiatric syndrome involving a constellation of psychomotor disturbances including catalepsy, waxy flexibility, stupor, mutism, negativism, agitation, posturing, stereotypes, mannerisms, grimacing, echolalia, and echopraxia. Catatonia occurs in several conditions including psychotic, affective and neurodevelopmental disorders such as autism spectrum disorder (ASD). ASD is a neurodevelopmental disorder characterized by persistent deficits in communication, social interaction, restricted interests, repetitive behaviours and sensory sensitivities. Catatonia can occur in response to life stressors such as extreme fear or threat, interpersonal conflict, tragic events or following significant loss. Those with ASD may be particularly vulnerable to the negative impact of stressors and the link between catatonia and ASD is being increasingly recognized. The overlapping features of catatonia and ASD make it difficult to differentiate often resulting in delayed or missed diagnosis. Catatonia in ASD remains a significant clinical challenge; it is difficult to diagnose and can pose debilitating difficulties for those affected. Catatonia is a treatable condition and prompt recognition is vital in securing the best possible outcome. We report a complex and unique case of a 15-year-old boy who presented with severe cognitive and functional decline with a background history of significant bullying and deterioration in his mental state. This case posed a diagnostic conundrum leading to a diagnosis of underlying ASD, anxiety and trauma.

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12. Pui Ying LP, Hoi Wan FE, Tung Megan CY, Ming LC, McGrath CP, Kar Yung YC. Psychological behavioral therapies to improve autistic children’s behaviors during dental visits: A systematic review and meta-analysis. Autism;2024 (Jun 10):13623613241255302.

This research review looked at how well different psychological behavioral therapies help improve the behavior of autistic children during dental visits. The researchers studied 18 different studies and found that, on average, about 56% of autistic children were able to cooperate with a dental exam using an oral mirror during their first visit. The number increased to about 64% during their second visit. However, using visual pedagogies or teaching aids did not seem to make a big difference in how many children could accept the dental exams. The results for other psychological behavioral techniques were also inconsistent, including Treatment and Education of Autistic and related Communication-handicapped CHildren, Picture Exchange Communication System, Applied Behavior Analysis, video modeling, and distractions. Many of the studies were small and did not include a comparison group. They also did not consider factors like how severe the autism was, other conditions the children had, or their previous dental experiences. Because of these limitations, the evidence supporting the use of psychological behavioral techniques to improve dental visits for autistic children is limited and uncertain. More research with larger studies and proper control groups is needed to better understand this topic.

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13. Qin L, Wang H, Ning W, Cui M, Wang Q. New advances in the diagnosis and treatment of autism spectrum disorders. Eur J Med Res;2024 (Jun 10);29(1):322.

Autism spectrum disorders (ASD) are a group of neurodevelopmental disorders that affect individuals’ social interactions, communication skills, and behavioral patterns, with significant individual differences and complex etiology. This article reviews the definition and characteristics of ASD, epidemiological profile, early research and diagnostic history, etiological studies, advances in diagnostic methods, therapeutic approaches and intervention strategies, social and educational integration, and future research directions. The highly heritable nature of ASD, the role of environmental factors, genetic-environmental interactions, and the need for individualized, integrated, and technology-driven treatment strategies are emphasized. Also discussed is the interaction of social policy with ASD research and the outlook for future research and treatment, including the promise of precision medicine and emerging biotechnology applications. The paper points out that despite the remarkable progress that has been made, there are still many challenges to the comprehensive understanding and effective treatment of ASD, and interdisciplinary and cross-cultural research and global collaboration are needed to further deepen the understanding of ASD and improve the quality of life of patients.

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14. Shan X, Wang P, Yin Q, Li Y, Wang X, Feng Y, Xiao J, Li L, Huang X, Chen H, Duan X. Atypical dynamic neural configuration in autism spectrum disorder and its relationship to gene expression profiles. Eur Child Adolesc Psychiatry;2024 (Jun 11)

Although it is well recognized that autism spectrum disorder (ASD) is associated with atypical dynamic functional connectivity patterns, the dynamic changes in brain intrinsic activity over each time point and the potential molecular mechanisms associated with atypical dynamic temporal characteristics in ASD remain unclear. Here, we employed the Hidden Markov Model (HMM) to explore the atypical neural configuration at every scanning time point in ASD, based on resting-state functional magnetic resonance imaging (rs-fMRI) data from the Autism Brain Imaging Data Exchange. Subsequently, partial least squares regression and pathway enrichment analysis were employed to explore the potential molecular mechanism associated with atypical neural dynamics in ASD. 8 HMM states were inferred from rs-fMRI data. Compared to typically developing, individuals on the autism spectrum showed atypical state-specific temporal characteristics, including number of states and occurrences, mean life time and transition probability between states. Moreover, these atypical temporal characteristics could predict communication difficulties of ASD, and states assoicated with negative activation in default mode network and frontoparietal network, and positive activation in somatomotor network, ventral attention network, and limbic network, had higher predictive contribution. Furthermore, a total of 321 genes was revealed to be significantly associated with atypical dynamic brain states of ASD, and these genes are mainly enriched in neurodevelopmental pathways. Our study provides new insights into characterizing the atypical neural dynamics from a moment-to-moment perspective, and indicates a linkage between atypical neural configuration and gene expression in ASD.

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15. Thibaudeau A, Schmitt K, François L, Chatrousse L, Hoffmann D, Cousin L, Weiss A, Vuidel A, Jacob CB, Sommer P, Benchoua A, Wilbertz JH. Pharmacological modulation of developmental and synaptic phenotypes in human SHANK3 deficient stem cell-derived neuronal models. Transl Psychiatry;2024 (Jun 10);14(1):249.

Phelan-McDermid syndrome (PMDS) arises from mutations in the terminal region of chromosome 22q13, impacting the SHANK3 gene. The resulting deficiency of the postsynaptic density scaffolding protein SHANK3 is associated with autism spectrum disorder (ASD). We examined 12 different PMDS patient and CRISPR-engineered stem cell-derived neuronal models and controls and found that reduced expression of SHANK3 leads to neuronal hyperdifferentiation, increased synapse formation, and decreased neuronal activity. We performed automated imaging-based screening of 7,120 target-annotated small molecules and identified three compounds that rescued SHANK3-dependent neuronal hyperdifferentiation. One compound, Benproperine, rescued the decreased colocalization of Actin Related Protein 2/3 Complex Subunit 2 (ARPC2) with ß-actin and rescued increased synapse formation in SHANK3 deficient neurons when administered early during differentiation. Neuronal activity was only mildly affected, highlighting Benproperine’s effects as a neurodevelopmental modulator. This study demonstrates that small molecular compounds that reverse developmental phenotypes can be identified in human neuronal PMDS models.

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16. Trew S. Close Relationships Despite the Challenges: Sibling Relationships and Autism. J Autism Dev Disord;2024 (Jun 11)

This study explores the experiences of siblings of autistic adolescents within families. Without the novel insights generated from engaging with siblings of autistic adolescents within a qualitative framework, it can be challenging to develop strategies for practicing effectively with this group or structuring interventions with these families. Using a social constructivist approach and qualitative participatory methodology, the exploratory study was conducted using in-depth interviews with ten non-autistic siblings, analyzed via a thematic analysis method. The results reveal a common feeling of uncertainty and apprehension in the relationships, leading siblings to physical and emotional detachment from their autistic brothers or sisters. The research emphasizes the caregiving roles predominantly taken up by sisters, especially when the autistic sibling is a brother with intellectual disability. These roles exert substantial demands, with unclear boundaries suggesting potential role confusion. The findings have important implications for family practice, necessitating the need to address role conflict and promote role clarity. They also underscore the gendered nature of caregiving, advocating for support to sister-siblings in these roles. This study revealed the complexities of sibling relationships in families with a member who is an autistic adolescent sibling. The study suggests interventions that promote open family dialogues for a balanced approach to family roles, providing valuable guidance to practitioners to enhance siblings and family well-being.

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17. Xu S, Zhang H, Fan J, Jiang X, Zhang M, Guan J, Ding H, Zhang Y. Auditory Challenges and Listening Effort in School-Age Children With Autism: Insights From Pupillary Dynamics During Speech-in-Noise Perception. J Speech Lang Hear Res;2024 (Jun 11):1-44.

PURPOSE: This study aimed to investigate challenges in speech-in-noise (SiN) processing faced by school-age children with autism spectrum conditions (ASCs) and their impact on listening effort. METHOD: Participants, including 23 Mandarin-speaking children with ASCs and 19 age-matched neurotypical (NT) peers, underwent sentence recognition tests in both quiet and noisy conditions, with a speech-shaped steady-state noise masker presented at 0-dB signal-to-noise ratio in the noisy condition. Recognition accuracy rates and task-evoked pupil responses were compared to assess behavioral performance and listening effort during auditory tasks. RESULTS: No main effect of group was found on accuracy rates. Instead, significant effects emerged for autistic trait scores, listening conditions, and their interaction, indicating that higher trait scores were associated with poorer performance in noise. Pupillometric data revealed significantly larger and earlier peak dilations, along with more varied pupillary dynamics in the ASC group relative to the NT group, especially under noisy conditions. Importantly, the ASC group’s peak dilation in quiet mirrored that of the NT group in noise. However, the ASC group consistently exhibited reduced mean dilations than the NT group. CONCLUSIONS: Pupillary responses suggest a different resource allocation pattern in ASCs: An initial sharper and larger dilation may signal an intense, narrowed resource allocation, likely linked to heightened arousal, engagement, and cognitive load, whereas a subsequent faster tail-off may indicate a greater decrease in resource availability and engagement, or a quicker release of arousal and cognitive load. The presence of noise further accentuates this pattern. This highlights the unique SiN processing challenges children with ASCs may face, underscoring the importance of a nuanced, individual-centric approach for interventions and support.

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18. Zhu K, Xie X, Hou F, Chen Y, Wang H, Jiang Q, Feng Y, Xiao P, Zhang Q, Xiang Z, Fan Y, Wu X, Li L, Song R. The Association Between Functional Variants in Long Non-coding RNAs and the Risk of Autism Spectrum Disorder Was Not Mediated by Gut Microbiota. Mol Neurobiol;2024 (Jun 11)

The effect of functional variants in long non-coding RNA (lncRNA) gene regions on autism spectrum disorder (ASD) remains unclear. The present study aimed to investigate the association of functional variants located in lncRNA genes with the risk of ASD and explore whether gut microbiota would mediate the relationship. A total of 87 cases and 71 healthy controls were enrolled in the study. MassARRAY platform and 16S rRNA sequencing were respectively applied to assess the genotype of candidate SNPs and gut microbiota of children. The logistic regression models showed that the association between rs2295412 and the risk of ASD was statistically significant after Bonferroni adjustments. The risk of ASD decreased by 19% for each additional C allele carried by children in multiplicative models (OR = 0.81, 95% CI, 0.69-0.94, P = 0.007). Although we identified significant correlations between rs8113922 polymorphisms, Bifidobacteriales, and ASD, the mediating effect of gut microbiota on the relationship of the polymorphisms with the risk of ASD was not significant. The findings demonstrated that functional variants in lncRNA genes play an important role in ASD and gut microbiota could not mediate the association. Future studies are warranted to verify the results and search for more possible mechanisms of variants located in lncRNA genes implicated in ASD.

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