1. Albaum CS, Vashi N, Bohr Y, Weiss JA. A Systematic Review of Therapeutic Process Factors in Mental Health Treatment for Autistic Youth. Clin Child Fam Psychol Rev;2022 (Aug 24)

Understanding the role of therapeutic process factors in treatment change may prove useful for discerning why some autistic youth benefit from psychosocial interventions that target emotional and psychological aspects of mental health, while others do not. The aim of the current study was to synthesize what is currently known about therapeutic process factors in mental health treatment of emotional and psychological challenges for autistic youth, regarding how process factors have been measured in past research, and the relation between process factors and treatment outcome. A systematic review of the literature was conducted to narratively synthesize all articles published up until June 2021. Methodological quality of included studies was appraised. Twenty-five studies met inclusion criteria. Process factors assessed across studies included relational factors; treatment expectations, readiness, and satisfaction; and treatment engagement from youth and their parents. Process-outcome associations were reported for a limited number of constructs. There is a limited, albeit growing, body of high-quality research evaluating the role of process factors in the treatment of mental health issues for autistic youth. Future research should continue to examine process factors in relation to treatment outcome, and validate measures to accurately capture process-related constructs in mental health treatment for this population. Greater understanding of therapy processes can lead to developing evidence-informed strategies that clinicians can implement to promote positive expectations, relationships, and engagement.

Lien vers le texte intégral (Open Access ou abonnement)

2. Ardakani HA, Taghizadeh M, Shayegh F. Diagnosis of Autism Disorder Based on Deep Network Trained by Augmented EEG Signals. Int J Neural Syst;2022 (Aug 22):2250046.

Autism spectrum disorder is a neurodevelopmental disorder typically characterized by abnormalities in social interaction and stereotyped and repetitive behaviors. Diagnosis of autism is mainly based on behavioral tests and interviews. In recent years, studies involving the diagnosis of autism based on analysis of EEG signals have increased. In this paper, recorded signals from people suffering from autism and healthy individuals are divided to without overlap windows considered as images and these images are classified using a two-dimensional Deep Convolution Neural Network (2D-DCNN). Deep learning models require a lot of data to extract the appropriate features and automate data classification. But, in most neurological studies, preparing a large number of measurements is difficult (a few 1000s as compared to million natural images), due to the cost, time, and difficulty of recording these signals. Therefore, to make the appropriate number of data, in our proposed method, some of the data augmentation methods are used. These data augmentation methods are mainly introduced for image databases and should be generalized for EEG-as-an-image database. In this paper, one of the nonlinear image mixing methods is used that mixes the rows of two images. According to the fact that any row in our image is one channel of EEG signal, this method is named channel combination. The result is that in the best case, i.e., augmentation according to channel combination, the average accuracy of 88.29% is achieved in the classification of short signals of healthy people and ASD ones and 100% for ASD and epilepsy ones, using 2D-DCNN. After the decision on joined windows related to each subject, we could achieve 100% accuracy in detecting ASD subjects, according to long EEG signals.

Lien vers le texte intégral (Open Access ou abonnement)

3. Beck AK, Czernochowski D, Lachmann T, Barahona-Correa B, Carmo JC. Is the dolphin a fish? ERP evidence for the impact of typicality during early visual processing in ultra-rapid semantic categorization in autism spectrum disorder. J Neurodev Disord;2022 (Aug 23);14(1):46.

BACKGROUND: Neurotypical individuals categorize items even during ultra-rapid presentations (20 ms; see Thorpe et al. Nature 381: 520, 1996). In cognitively able autistic adults, these semantic categorization processes may be impaired and/or may require additional time, specifically for the categorization of atypical compared to typical items. Here, we investigated how typicality structures influence ultra-rapid categorization in cognitively able autistic and neurotypical male adults. METHODS: Images representing typical or atypical exemplars of two different categories (food/animals) were presented for 23.5 vs. 82.3 ms (short/long). We analyzed detection rates, reaction times, and the event-related potential components dN150, N1, P2, N2, and P3 for each group. RESULTS: Behavioral results suggest slower and less correct responses to atypical compared to typical images. This typicality effect was larger for the category with less distinct boundaries (food) and observed in both groups. However, electrophysiological data indicate a different time course of typicality effects, suggesting that neurotypical adults categorize atypical images based on simple features (P2), whereas cognitively able autistic adults categorize later, based on arbitrary features of atypical images (P3). CONCLUSIONS: We found evidence that all three factors under investigation – category, typicality, and presentation time – modulated specific aspects of semantic categorization. Additionally, we observed a qualitatively different pattern in the autistic adults, which suggests that they relied on different cognitive processes to complete the task.

Lien vers le texte intégral (Open Access ou abonnement)

4. 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.

Lien vers le texte intégral (Open Access ou abonnement)

5. Chun J, Kuo HJ, Curtiss SL, Lee GK, Lee H, Awadu J. The interplay of supports and barriers during the transition to adulthood for youth on the autism spectrum. Disabil Rehabil;2022 (Aug 23):1-11.

PURPOSE: Transition to adulthood is a complex process that involves important life domains such as education, work, independent living, community, health, and social relationships. Autistic youth face the transition with greater challenges than their peers, and there continues to have significant gaps in the services as they approach young adulthood. The study was conducted to understand the complex interplay between supports and barriers to participation in the transition process. METHOD: Data was collected through six focus groups with 24 participants (7 parents, 11 practitioners, 6 autistic youth), digitally audio-recorded, transcribed, and analyzed using thematic analysis. RESULTS: Four themes were reported: Inadequacy of Services, Ambivalence about Formal Services and Support, Understanding Good Partnership, and Evolving Parental Involvement. While parents and practitioners see the fragmented services and lack of comprehensive support as the most prominent challenge, autistic youth feel ambivalent about the type of services they need. Practitioners address the importance of establishing an appropriate level of engagement with parents in the transition process. Autistic youth expect their parents to set a boundary that affirms their independence. CONCLUSIONS: Our study highlights the need to elicit input across different stakeholders to make transition services centralized, easily accessible, and individualized.Implications for RehabilitationIt is important to have a systematic road map, early preparation of families and autistic youth about the array of adult transition services, and a centralized hub of information to be disseminated.Disability service agencies should develop and implement plans for enhancing outreach and services to transition youth on the autism spectrum and their families.Practitioners need to identify locally available resources and channels for outreach and make available service more visible by producing transition-related materials with examples of current legislative information, problem solving, and best practices.Practitioners should consider how autistic youth identify their needs and wants may be different than how service providers and parents conceptualize them.It is critical to capitalize appropriate levels of caregivers/family support and engagement by provision of education about policies and guidelines for communication and collaboration.

Lien vers le texte intégral (Open Access ou abonnement)

6. David N, Dückert S, Gewohn P, König H, Rahlff P, Erik F, Vogeley K, Schöttle D, Konnopka A, Schulz H, Peth J. Mixed-methods investigation of barriers and needs in mental healthcare of adults with autism and recommendations for future care (BarrierfreeASD): study protocol. BMJ Open;2022 (Aug 23);12(8):e061773.

INTRODUCTION: Autism refers to an early-onset neurodevelopmental condition with characteristic impairments and difficulties in practical living skills, which persist across the lifespan such that adults with autism often require substantial support and comprehensive care. Yet, mental health and other services are frequently unavailable for adults with autism despite considerable need for mental healthcare and individual, familial and socioeconomic burdens. This study will (1) examine current needs, barriers and burdens related to ineffective healthcare of adults with autism in Germany, (2) develop specific recommendations for a need-oriented mental healthcare model and (3) evaluate its future implementation. METHODS AND ANALYSIS: A mixed-methods design with three phases will be conducted. In phase 1, current mental healthcare for adults with autism will be assessed at three levels (individual, structural and professional) and from three perspectives (adults with autism, relatives and healthcare providers) using (1) focus groups/interviews (qualitative data) and (2) large-scale online surveys (quantitative data). Furthermore, service utilisation and related costs will be estimated. In phase 2, recommendations for a future healthcare model will be derived based on phase 1, considering the heterogeneous and complex needs within the autism spectrum and specifying indications for recommended services. In phase 3, these will again be evaluated by the three stakeholder groups using mixed-methods and analysed regarding feasibility of implementation and cost-effectiveness. Our study will, thus, contribute to a better translation of recommendations into practice to reduce disability, burden and costs related to ineffective healthcare and improve mental health outcomes for adults with autism and those who support them. ETHICS AND DISSEMINATION: This study was approved by the Local Psychological Ethics Commission of the Center for Psychosocial Medicine at the University Medical Center Hamburg-Eppendorf (LPEK-0227). Findings will be disseminated via scientific meetings and peer-reviewed journals. Cooperating partners and associations will be informed about the study’s course and findings by regular newsletters and meetings. TRIAL REGISTRATION NUMBER: This study protocol was preregistered at the Open Science Framework (osf.io/5x8pg).

Lien vers le texte intégral (Open Access ou abonnement)

7. Deveau N, Washington P, Leblanc E, Husic A, Dunlap K, Penev Y, Kline A, Mutlu OC, Wall DP. Machine learning models using mobile game play accurately classify children with autism. Intell Based Med;2022 (Aug 24):100057.

Digitally-delivered healthcare is well suited to address current inequities in the delivery of care due to barriers of access to healthcare facilities. As the COVID-19 pandemic phases out, we have a unique opportunity to capitalize on the current familiarity with telemedicine approaches and continue to advocate for mainstream adoption of remote care delivery. In this paper, we specifically focus on the ability of GuessWhat? a smartphone-based charades-style gamified therapeutic intervention for autism spectrum disorder (ASD) to generate a signal that distinguishes children with ASD from neurotypical (NT) children. We demonstrate the feasibility of using « in-the-wild », naturalistic gameplay data to distinguish between ASD and NT by children by training a random forest classifier to discern the two classes (AU-ROC = 0.745, recall = 0.769). This performance demonstrates the potential for GuessWhat? to facilitate screening for ASD in historically difficult-to-reach communities. To further examine this potential, future work should expand the size of the training sample and interrogate differences in predictive ability by demographic.

Lien vers le texte intégral (Open Access ou abonnement)

8. Dwyer P, Takarae Y, Zadeh I, Rivera SM, Saron CD. Multisensory integration and interactions across vision, hearing, and somatosensation in autism spectrum development and typical development. Neuropsychologia;2022 (Aug 24);175:108340.

Most prior studies of multisensory integration (MSI) in autism have measured MSI in only a single combination of modalities – typically audiovisual integration. The present study used onset reaction times (RTs) and 125-channel electroencephalography (EEG) to examine different forms of bimodal and trimodal MSI based on combinations of auditory (noise burst), somatosensory (finger tap), and visual (flash) stimuli presented in a spatially-aligned manner using a custom desktop apparatus. A total of 36 autistic and 19 non-autistic adolescents between the ages of 11-14 participated. Significant RT multisensory facilitation relative to summed unisensory RT was observed in both groups, as were significant differences between summed unisensory and multisensory ERPs. Although the present study’s statistical approach was not intended to test effect latencies, these interactions may have begun as early as ∼45 ms, constituting « early » (<100 ms) MSI. RT and ERP measurements of MSI appeared independent of one another. Groups did not significantly differ in multisensory RT facilitation, but we found exploratory evidence of group differences in the magnitude of audiovisual interactions in ERPs. Future research should make greater efforts to explore MSI in under-represented populations, especially autistic people with intellectual disabilities and nonspeaking/minimally-verbal autistic people.

Lien vers le texte intégral (Open Access ou abonnement)

9. 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.

Lien vers le texte intégral (Open Access ou abonnement)

10. Jain D, Ravishankar V. Ocular Manifestations Leading to a Diagnosis of Joubert Syndrome Related Disorder. Nepal J Ophthalmol;2022 (Jan);14(27):173-177.

INTRODUCTION: Joubert syndrome is an inherited disorder of rare occurrence usually presenting as developmental delay, hypotonia, hyperpnea and ataxia. The diagnosis is confirmed by characteristic findings in neuroimaging. Involvement of ocular, renal and hepatic systems can be present. Joubert syndrome presenting first to an ophthalmologist is very uncommon. CASE: A twenty-one-year female, with history of delayed milestones, infantile hemiplegia with hearing and visual impairment was referred for visual assessment. On systemic examination, ataxic gait was present. CT head showed hypoplasia of postero-inferior portion of vermis with communication between 4th ventricle and cisterna magna with variable degree of cerebellar dysgenesis. The neurological, ophthalmological and radiological findings of this patient were consistent with Joubert syndrome related disorder. CONCLUSION: We hereby report a case of Joubert syndrome related disorder with ocular involvement which after correlation with neurological findings and neuroimaging led us to the diagnosis of this rare disorder. The renal and hepatic functions in these patients need to be monitored.

Lien vers le texte intégral (Open Access ou abonnement)

11. Jenabi E, Ayubi E, Bashirian S, Seyedi M, Rezaei M. Association between previous abortion history and risk of autism spectrum disorders among offspring: A meta-analysis. Clin Exp Pediatr;2022 (Aug 17)

The present meta-analysis aimed to evaluate the association between previous abortion history and the risk of autism spectrum disorders (ASD). The PubMed, Scopus, and Web of Sciences databases were systematically searched for studies published through December 2021. The presence of statistical heterogeneity among the eligible studies was determined using the I2 value. According to heterogeneity, random- or fixed-effect models were applied to the meta-analysis of associations. Egger’s and Begg’s tests were used to assess publication bias. Thirteen studies involving 331,779 children were included in this meta-analysis. The overall odds ratio (95% confidence interval) for the association between previous abortion history and ASD through the random-effects model was 1.64 (1.28, 2.0; I2=61.7%). No publication bias was found (Begg’s: p=0.393; Egger’s: p=0.056). These results suggest a positive and significant association between a history of previous abortion and the risk of ASD in offspring.

Lien vers le texte intégral (Open Access ou abonnement)

12. 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.

Lien vers le texte intégral (Open Access ou abonnement)

13. 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.

Lien vers le texte intégral (Open Access ou abonnement)

14. Kim S, Jeong Y, Kim M, Ji S, Kim EY. Reliability and Validity of the Korean Child Sensory Profile-2. Am J Occup Ther;2022 (Sep 1);76(5)

IMPORTANCE: The Korean Child Sensory Profile-2 (K-CSP-2) is a tool for assessing sensory processing that was recently culturally adapted for use with Korean children. OBJECTIVE: To investigate the test-retest and interrater reliability and the convergent and discriminant validity of the K-CSP-2. DESIGN: Cross-sectional study. SETTING: Community settings in South Korea. PARTICIPANTS: Caregivers of 102 children with autism spectrum disorder (ASD) and 156 typically developing (TD) children ages 3-14 yr. OUTCOMES AND MEASURES: The K-CSP-2 was tested for reliability and validity using the Korean version of the Sensory Profile (K-SP) and the Korean Behavior Assessment System for Children-2 (K-BASC-2). RESULTS: The K-CSP-2 demonstrated good test-retest and interrater reliability. The K-CSP-2 was correlated with the K-SP and the K-BASC-2. Children with ASD had higher K-CSP-2 scores than TD children. The discriminant analysis classified children with ASD and TD children with an overall accuracy of 89%. CONCLUSIONS AND RELEVANCE: The K-CSP-2 can be used to assess the sensory processing of Korean children consistently across time and raters. The instrument maintains the quadrant factors of the K-SP and relates to adaptive and maladaptive behaviors. The K-CSP-2 can distinguish children with ASD from TD children. What This Article Adds: Korean occupational therapy practitioners can use the K-CSP-2 to identify sensory processing patterns and to support the evaluation of children with ASD.

Lien vers le texte intégral (Open Access ou abonnement)

15. Kong C, Chen A, Ludyga S, Herold F, Healy S, Zhao M, Taylor A, Müller NG, Kramer AF, Chen S, Tremblay MS, Zou L. Associations between meeting 24-hour movement guidelines and quality of life among children and adolescents with autism spectrum disorder. J Sport Health Sci;2022 (Aug 24)

BACKGROUND: The Canadian 24-hour movement behavior (24-HMB) guidelines suggest that a limited amount of screen time use, an adequate level of physical activity (PA), and sufficient sleep duration are beneficial for ensuring and optimizing the health and quality of life (QoL) of children and adolescents. However, this topic has yet to be examined for children and adolescents with autism spectrum disorder (ASD) specifically. The aim of this cross-sectional observational study was to examine the associations between meeting 24-HMB guidelines and several QoL-related indicators among a national sample of American children and adolescents with ASD. METHODS: Data were taken from the 2020 National Survey of Children’s Health dataset. Participants (n = 956) aged 6-17 years and currently diagnosed with ASD were included. The exposure of interest was adherence to the 24-HMB guidelines. Outcomes were QoL indicators, including learning interest/curiosity, repeating grades, adaptive ability, victimization by bullying, and behavioral problems. Categorical variables were described with unweighted sample counts and weighted percentages. Age, sex, race, preterm birth status, medication, behavioral treatment, household poverty level, and the educational level of the primary caregivers were included as covariates. Odds ratio (OR) and 95% confidence interval (95%CI) were used to present the strength of association between adherence to 24-HMB guidelines and QoL-related indicators. RESULTS: Overall, 452 participants (45.34%) met 1 of the 3 recommendations, 216 (22.65%) met 2 recommendations, whereas only 39 participants (5.04%) met all 3 recommendations. Compared with meeting none of the recommendations, meeting both sleep duration and PA recommendations (OR = 3.92, 95%CI: 1.63-9.48, p < 0.001) or all 3 recommendations (OR = 2.11, 95%CI: 1.03-4.35, p = 0.04) was associated with higher odds of showing learning interest/curiosity. Meeting both screen time and PA recommendations (OR = 0.15, 95%CI: 0.04-0.61, p < 0.05) or both sleep duration and PA recommendations (OR = 0.24, 95%CI: 0.07-0.87, p < 0.05 was associated with lower odds of repeating any grades. With respect to adaptive ability, participants who met only the PA recommendation of the 24-HMB were less likely to have difficulties dressing or bathing (OR = 0.11, 95%CI: 0.02-0.66, p < 0.05) than those who did not. For participants who met all 3 recommendations (OR = 0.38, 95%CI: 0.15-0.99, p = 0.05), the odds of being victimized by bullying was lower. Participants who adhered to both sleep duration and PA recommendations were less likely to present with severe behavioral problems (OR = 0.17, 95%CI: 0.04-0.71, p < 0.05) than those who did not meet those guidelines. CONCLUSION: Significant associations were found between adhering to 24-HMB guidelines and selected QoL indicators. These findings highlight the importance of maintaining a healthy lifestyle as a key factor in promoting and preserving the QoL of children with ASD.

Lien vers le texte intégral (Open Access ou abonnement)

16. 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.

Lien vers le texte intégral (Open Access ou abonnement)

17. Nisticò V, Iacono A, Goeta D, Tedesco R, Giordano B, Faggioli R, Priori A, Gambini O, Demartini B. Hypermobile spectrum disorders symptoms in patients with functional neurological disorders and autism spectrum disorders: A preliminary study. Front Psychiatry;2022;13:943098.

Autism spectrum disorders (ASDs) and functional neurological disorders (FNDs) share some clinical characteristics such as alexithymia, sensory sensitivity and interoceptive issues. Recent evidence shows that both the disorders present symptoms compatible with a diagnosis of hypermobile Ehlers-Danlos Syndrome and hypermobile spectrum disorders (hEDS/HSD), a heterogeneous group of heritable connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Here we compared the prevalence of hEDS/HSD-related symptoms in a group of patients with FNDs, of people with ASDs without intellectual disabilities, and a non-clinical comparison group (NC). Twenty patients with FNDs, 27 individuals with ASDs without intellectual disabilities and 26 NC were recruited and completed the Self-reported screening questionnaire for the assessment of hEDS/HSD-related symptoms (SQ-CH). We found that 55% of the patients with FNDs, 44.4% of the individuals with ASDs and 30.8% of NC scored above the cut-off at the SQ-CH; SQ-CH scores of both FNDs and ASDs group were significantly higher than the NC group’s ones. In conclusion, both ASDs and FNDs individuals present hEDS/HSD-related symptoms in a higher number than the general population. Imputable mechanisms include (i) overwhelming of executive functions with consequent motor competence impairment for ASDs individuals, and (ii) exacerbation of FNDs symptoms by physical injury and chronic pain due to abnormal range of joint mobility. Moreover, we speculated that the amygdala and the anterior cingulate cortex circuitry might be responsible for the imbalances at the proprioceptive, interoceptive, and emotional levels.

Lien vers le texte intégral (Open Access ou abonnement)

18. Pagni BA, Walsh MJM, Ofori E, Chen K, Sullivan G, Alvar J, Monahan L, Guerithault N, Delaney S, Braden BB. Effects of age on the hippocampus and verbal memory in adults with autism spectrum disorder: Longitudinal versus cross-sectional findings. Autism Res;2022 (Aug 24)

Research studying aging in adults with autism spectrum disorder (ASD) is growing, but longitudinal work is needed. Autistic adults have increased risk of dementia, altered hippocampal volumes and fornix integrity, and verbal memory difficulties compared with neurotypical (NT) adults. This study examined longitudinal aging in middle-age adults with ASD versus a matched NT group, and compared findings with cross-sectional age effects across a broad adult age range. Participants were 194 adults with (n = 106; 74 male) and without (n = 88; 52 male) ASD, ages 18-71. Participants (n = 45; 40-70 age range) with two visits (2-3 years apart) were included in a longitudinal analysis. Hippocampal volume, fornix fractional anisotropy (FA), and verbal memory were measured via T1-weighted MRI, diffusion tensor imaging, and the Rey Auditory Verbal Learning Test, respectively. Longitudinal mixed models were used for hippocampal system variables and reliable change index categories were used for Auditory Verbal Learning Test analyses. Multivariate regression was used for cross-sectional analyses. Middle-age adults with ASD had greater longitudinal hippocampal volume loss and were more likely to show clinically meaningful decline in short-term memory, compared with NT. In contrast, cross-sectional associations between increasing age and worsening short-term memory were identified in NT, but not autistic adults. Reduced fornix FA and long-term memory in ASD were found across the broad cross-sectional age range. These preliminary longitudinal findings suggest accelerated hippocampal volume loss in ASD and slightly higher rates of clinically-meaningful decline in verbal short-term memory. Contradictory cross-sectional and longitudinal results underscore the importance of longitudinal aging research in autistic adults. LAY SUMMARY: Autistic adults have increased risk of dementia, differences in brain memory structures, and difficulty with memory compared with neurotypical (NT) adults. However, there are no publications that follow the same middle-age autistic adults over time to see how their brain and memory change. Our preliminary findings in a small middle-age autism sample suggest a key memory brain structure, the hippocampus, may shrink faster over 2-3 years compared with NT, and short-term memory may become more challenging for some. Across a broad adult range, autistic adults also had reduced integrity of connections to the hippocampus and greater challenges with long-term memory. In our larger sample across a broad age range, the results did not hint at this aforementioned pattern of accelerated aging. This underscores the importance of more aging research in autism, and especially research where people are followed over time.

Lien vers le texte intégral (Open Access ou abonnement)

19. 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.

Lien vers le texte intégral (Open Access ou abonnement)

20. Prager BC, Broder SM, Natowicz MR. A picture is worth a thousand words: A proposal to incorporate video into the evaluation of adults with intellectual or developmental disability living outside the home. Front Public Health;2022;10:887714.

Adults with intellectual or developmental disability (IDD) comprise 1-2% of the population worldwide. IDD is a significant risk factor for premature morbidity or mortality. This is likely due in part to preventable health conditions, which are modifiable with the intervention of direct care providers in areas including nutrition, promotion of an active lifestyle and effective identification of health or functional deterioration. Adults with IDD are also at increased risk for neglect or mistreatment, a finding that has been documented across multiple countries and in a variety of care settings. Contributing factors include resource availability, lack of person-centered care, management culture and care worker training. Practical and economical interventions may address the known disparities and challenges facing the large community of adults with IDD. To promote person-centered care, improve record-keeping/documentation, and aid in protecting the health and safety of this vulnerable population, we propose incorporation of a video into the evaluation of adults with IDD living outside the home.

Lien vers le texte intégral (Open Access ou abonnement)

21. Seiffert S, Pendziwiat M, Bierhals T, Goel H, Schwarz N, van der Ven A, Boßelmann CM, Lemke J, Syrbe S, Willemsen MH, Hedrich UBS, Helbig I, Weber Y. Modulating effects of FGF12 variants on Na(V)1.2 and Na(V)1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A case series. EBioMedicine;2022 (Aug 24);83:104234.

OBJECTIVE: Fibroblast Growth Factor 12 (FGF12) may represent an important modulator of neuronal network activity and has been associated with developmental and epileptic encephalopathy (DEE). We sought to identify the underlying pathomechanism of FGF12-related disorders. METHODS: Patients with pathogenic variants in FGF12 were identified through published case reports, GeneMatcher and whole exome sequencing of own case collections. The functional consequences of two missense and two copy number variants (CNVs) were studied by co-expression of wildtype and mutant FGF12 in neuronal-like cells (ND7/23) with the sodium channels Na(V)1.2 or Na(V)1.6, including their beta-1 and beta-2 sodium channel subunits (SCN1B and SCN2B). RESULTS: Four variants in FGF12 were identified for functional analysis: one novel FGF12 variant in a patient with autism spectrum disorder and three variants from previously published patients affected by DEE. We demonstrate the differential regulating effects of wildtype and mutant FGF12 on Na(V)1.2 and Na(V)1.6 channels. Here, FGF12 variants lead to a complex kinetic influence on Na(V)1.2 and Na(V)1.6, including loss- as well as gain-of function changes in fast and slow inactivation. INTERPRETATION: We could demonstrate the detailed regulating effect of FGF12 on Na(V)1.2 and Na(V)1.6 and confirmed the complex effect of FGF12 on neuronal network activity. Our findings expand the phenotypic spectrum related to FGF12 variants and elucidate the underlying pathomechanism. Specific variants in FGF12-associated disorders may be amenable to precision treatment with sodium channel blockers. FUNDING: DFG, BMBF, Hartwell Foundation, National Institute for Neurological Disorders and Stroke, IDDRC, ENGIN, NIH, ITMAT, ILAE, RES and GRIN.

Lien vers le texte intégral (Open Access ou abonnement)

22. Stagg SD, Thompson-Robertson L, Morgan C. Primary school children rate children with autism negatively on looks, speech and speech content. Br J Dev Psychol;2022 (Aug 24)

Adults and adolescents form negative first impressions of ASD adults and children. We examined the first impression ratings of primary school children (6-9 years) of their ASD peers. 146 school children rated either silent videos, speech or transcribe speech from 14 actors (7 ASD, 7 TD). The ASD actors were rated more negatively than the typically developing actors on all three stimulus types. Children with ASD are likely to be judged more negatively than their peers at the very start of their formal education. Contrary to previous research, for primary school children, the content of the speech was judged as negatively as the delivery of the speech.

Lien vers le texte intégral (Open Access ou abonnement)

23. 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.

Lien vers le texte intégral (Open Access ou abonnement)