Pubmed du 01/07/22
1. Babb C, Brede J, Jones CRG, Serpell L, Mandy W, Fox J. A comparison of the eating disorder service experiences of autistic and non-autistic women in the UK. Eur Eat Disord Rev;2022 (Jul 1)
OBJECTIVE: Qualitative studies report that autistic women have poor experiences when being treated for an eating disorder (ED) and express that ED services are not appropriately tailored to meet their needs. It is unclear whether their experience differs to other women accessing ED services. The aim of the current study was to compare autistic and non-autistic women’s ED illness history and experiences in ED services. METHOD: An online survey about ED illness history and their experience with ED treatment was completed by 46 autistic women with a restrictive ED and 110 non-autistic women with a restrictive ED. RESULTS: Despite some similarities, there were three key differences in the experiences reported by autistic and non-autistic women. First, autistic women reported a longer duration of ED and being diagnosed with an ED at a younger age than non-autistic women. Second, autistic women reported accessing a broader range of healthcare settings and ED treatments than non-autistic women when being treated for an ED. Finally, autistic women rated their experiences of inpatient care, dietetic input, and cognitive behavioural therapy (CBT) as significantly less beneficial than non-autistic women when being treated for an ED. CONCLUSION: These findings increase understanding of autistic women’s ED experience and can help to shape ED services and treatments to better accommodate the needs of their autistic clients.
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2. Cesaroni E, Matricardi S, Cappanera S, Marini C. First reported case of an inherited PACS2 pathogenic variant with variable expression. Epileptic Disord;2022 (Jun 1);24(3):572-576.
Neonatal epilepsy, cerebellar dysgenesis and facial dysmorphisms may be associated with de novo PACS2 missense pathogenic variants (EIEE 66) (OMIM #618067). Here, we report a toddler boy with neonatal-onset seizures, developmental delay with hypotonia, facial dysmorphisms and prominence of the cisterna magna, mild inferior vermian and cerebellar hypoplasia. A nextgeneration epilepsy gene panel revealed a known pathogenic PACS2 missense variant, p.Glu209Lys, that was inherited from his mildly affected mother. We describe the first PACS2 pathogenic variant to be inherited, expanding the clinical spectrum, associated with a mild phenotype in the mother and a more severe phenotype in her son, in keeping with previously reported descriptions.
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3. Crosse MJ, Foxe JJ, Tarrit K, Freedman EG, Molholm S. Resolution of impaired multisensory processing in autism and the cost of switching sensory modality. Commun Biol;2022 (Jun 30);5(1):601.
Children with autism spectrum disorders (ASD) exhibit alterations in multisensory processing, which may contribute to the prevalence of social and communicative deficits in this population. Resolution of multisensory deficits has been observed in teenagers with ASD for complex, social speech stimuli; however, whether this resolution extends to more basic multisensory processing deficits remains unclear. Here, in a cohort of 364 participants we show using simple, non-social audiovisual stimuli that deficits in multisensory processing observed in high-functioning children and teenagers with ASD are not evident in adults with the disorder. Computational modelling indicated that multisensory processing transitions from a default state of competition to one of facilitation, and that this transition is delayed in ASD. Further analysis revealed group differences in how sensory channels are weighted, and how this is impacted by preceding cross-sensory inputs. Our findings indicate that there is a complex and dynamic interplay among the sensory systems that differs considerably in individuals with ASD.
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4. Eigsti IM, Fein D, Larson C. Editorial Perspective: Another look at ‘optimal outcome’ in autism spectrum disorder. J Child Psychol Psychiatry;2022 (Jun 30)
This paper addresses the hypothesis that autism spectrum disorder features follow multiple long-term developmental trajectories, including an absence of symptoms that were present in childhood, by the time of adolescence. In early work on this topic, this circumstance was called an ‘optimal outcome’. To better reflect the reality of multiple excellent outcomes regardless of whether autism spectrum disorder features are present or absent, including autonomy, daily living skills, communication skills, and relationships and employment/activities outside the home, the terminology ‘loss of autism diagnosis’ (LAD) has been proposed as a substitute. The paper also contextualizes an LAD outcome within research, practice and advocacy.
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5. Hatfield MK, Ashcroft E, Maguire S, Kershaw L, Ciccarelli M. « Stop and just breathe for a minute »: perspectives of children on the Autism Spectrum and their caregivers on a Mindfulness Group. J Autism Dev Disord;2022 (Jun 30)
Children on the autism spectrum often experience anxiety. Mindfulness is growing in popularity as a method to support children with anxiety; however, there is limited evidence on mindfulness for children on the autism spectrum. This study investigated the feasibility of a 10-week group-based mindfulness intervention for 14 children on the autism spectrum. A one-group pre-post design determined outcomes of anxiety (caregiver and child report), mindful attention, and wellbeing (child report). Interviews explored children’s and caregivers’ perceptions. There were no significant differences in outcomes post-intervention. Five themes were identified from interviews: (1) Children felt calmer; (2) Parents observed differences in anxiety; (3) Breathing and yoga helped; (4) Parents wanted more; and (5) Challenges and benefits of group intervention.
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6. Hellings D, Joosten A, Hatfield M, Netto J. Benefits and Challenges of Assistance Dogs for Families of Children on the Autism Spectrum: Mothers’ Perspectives. Qual Health Res;2022 (Jun 30):10497323221111247.
Assistance dogs are a potential intervention for families of children on the autism spectrum to support participation. However, the lived experience of families with new assistance dogs has not previously been explored. This study described the expectations, benefits, and challenges of assistance dog ownership for families of children on the autism spectrum. Data were collected from four mothers through semi-structured interviews and photovoice prior to assistance dog placement and following 6 months of ownership. Findings indicated assistance dog ownership enhanced the child’s self-regulation and socialization, and increased participation in daily routines. Having an assistance dog also enhanced participation in family outings and activities. Challenges included the adjustment period and the lack of public awareness of autism assistance dogs.
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7. Hsieh JJ, Nagai Y, Kumagaya SI, Ayaya S, Asada M. Atypical Auditory Perception Caused by Environmental Stimuli in Autism Spectrum Disorder: A Systematic Approach to the Evaluation of Self-Reports. Front Psychiatry;2022;13:888627.
Recent studies have revealed that atypical sensory perception is common in individuals with autism spectrum disorder (ASD) and is considered a potential cause of social difficulties. Self-reports by individuals with ASD have provided great insights into atypical perception from the first-person point of view and indicated its dependence on the environment. This study aimed to investigate the patterns and environmental causes of atypical auditory perception in individuals with ASD. Qualitative data from subject reports are inappropriate for statistical analysis, and reporting subjective sensory experiences is not easy for every individual. To cope with such challenges, we employed audio signal processing methods to simulate the potential patterns of atypical auditory perception. The participants in our experiment were able to select and adjust the strength of the processing methods to manipulate the sounds in the videos to match their experiences. Thus, the strength of atypical perception was recorded quantitatively and then analyzed to assess its correlation with the audio-visual stimuli contained in the videos the participants observed. In total, 22 participants with ASD and 22 typically developed (TD) participants were recruited for the experiment. The results revealed several common patterns of atypical auditory perception: Louder sounds perceived in a quiet environment, noise perception induced by intense and unsteady audio-visual stimuli, and echo perception correlated with movement and variation in sound level. The ASD group reported atypical perceptions more frequently than the control group. However, similar environmental causes were shared by the ASD and TD groups. The results help us infer the potential neural and physiological mechanisms of sensory processing in ASD.
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8. Kartalcı G, Çalışkan Demir A, Kartalcı Ş, Üremiş N, Türköz Y. Evaluation of Blood Zonulin Levels, Inflammatory Processes and Neuronal Changes in Children with Autism Spectrum Disorder. Psychiatr Danub;2022 (Summer);34(2):279-287.
BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by symptoms such as limited, and repetitive behavior patterns and disordered social interaction and communication. The etiology of Autism Spectrum Disorder (ASD) is not clearly known, it has been emphasized that the immune-inflammatory system may also play a role in this disease. This study aimed to evaluate in intestinal permeability, food antigen-antibody levels, inflammatory processes, and neuron damage in patients with ASD. SUBJECTS AND METHODS: Thirty-five chıldren between the ages of 3-12 with ASD and 35 controls were included in the study. Both participants’ height and weight were measured, and the parents filled the Socio-demographic Data and the Gastrointestinal Systems (GIS) Symptoms Form. Venous blood samples were collected, and serum zonulin, anti-gliadin Ig A and Ig G, IL6, TNF-alpha, TGF- ß, S100B, and NSE levels were measured by ELISA. RESULTS: Serum zonulin levels in the ASD group were found to be significantly lower. IL-6 and TGF-ß were found to be significantly higher in the ASD group. There was no difference between the two groups in terms of serum anti-gliadin Ig A and Ig G and TNF-alpha values. Also, GIS symptoms, NSE and S100B levels were found similar between two groups. CONCLUSIONS: Although findings showing low zonulin levels and increased inflammatory processes in ASD were found in this study, no difference was found in the parameters of brain damage. The findings show that intestinal permeability does not decrease in ASD and that inflammatory processes may play a role in ASD.
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9. Kim SY, Oh M, Bong G, Song DY, Yoon NH, Kim JH, Yoo HJ. Diagnostic validity of Autism Diagnostic Observation Schedule, second edition (K-ADOS-2) in the Korean population. Mol Autism;2022 (Jun 30);13(1):30.
BACKGROUND: Although the Korean version of the Autism Diagnostic Observation Schedule-2 (K-ADOS-2) is widely being used to diagnose autism spectrum disorder (ASD) in South Korea, no previous study has examined the validity and reliability of all modules of K-ADOS-2 across a wide age range, particularly older children, adolescents, and adults. METHOD: Data from 2,158 participants were included (mean age = 79.7 months; 73.6% male): 1473 participants with ASD and 685 participants without ASD (Toddler Module, n = 289; Module 1, n = 642; Module 2 n = 574; Module 3 n = 411; Module 4, n = 242). Participants completed a battery of tests, including the K-ADOS or K-ADOS-2 and other existing diagnostic instruments. Sensitivity, specificity, area under the receiver operating characteristic (ROC) curve, positive predictive value (PPV), negative predictive value (NPV), Cohen’s kappa (k), and agreement with existing diagnostic instruments were computed. Cronbach’s α values were also calculated. RESULTS: All developmental cells of the K-ADOS-2 showed sufficient ranges of sensitivity 85.4-100.0%; specificity, 80.4-96.8%; area under the ROC curve, .90-.97; PPV, 77.8-99.3%; NPV, 80.6-100.0%; and k values, .83-.92. The kappa agreements of developmental cells with existing diagnostic instruments ranged from .20 to .90. Cronbach’s α values ranged from .82 to .91 across all developmental cells. LIMITATION: The best-estimate clinical diagnoses made in this study were not independent of the K-ADOS-2 scores. Some modules did not include balanced numbers of participants in terms of gender and diagnostic status. CONCLUSION: The K-ADOS-2 is a valid and reliable instrument in diagnosing ASD in South Korea. Future studies exploring the effectiveness of the K-ADOS-2 in capturing restricted, repetitive behaviors and differentiating ASD from other developmental disabilities are needed.
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10. Klila H, Giuliani F. [Autism and attachment difficulties in adulthood : Overlap of symptoms]. Rev Med Suisse;2022 (Jun 29);18(788):1330-1333.
This article explores the overlap of symptoms between autism and attachment difficulties in adulthood. Clinicians express difficulties in differentiating between these conditions contributing to misdiagnosis. Distinguishing autism spectrum behaviors from behaviors relating to disorganized attachment can be challenging. Urgency is added by the fact that the number of cases is increasing in the diagnosis of autism spectrum disorder (ASD). It is becoming increasingly recognized that ASD shares phenotypic similarities with other traditionally distinct developmental conditions. This article aims enhance the clinicians’ critical reasoning regarding the patient’s behavior to distinguish if its autism or attachment-related behavior disorders. For us, the clearest differentiation factor seemed to be the nature of the behavior.
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11. Kundu DK, Tabassum CR, Nandi ER. Sleep Disturbance in Children with Autism Spectrum Disorder: A Cross Sectional Study. Mymensingh Med J;2022 (Jul);31(3):758-766.
Sleep problems are commonly seen in children with Autism Spectrum Disorder (ASD). According to previous research, sensory problems and anxiety may be related to the development and maintenance of sleep problems in children with ASD. To determine pattern and severity sleep disturbance in children with autism spectrum disorder. This descriptive cross sectional study was done in Institute of Paediatric Neuro-disorder and Autism (IPNA) and Department of Paediatric Neurology, Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh from October 2017 to September 2018. A total of 59 children aged 3 to 15 year who were diagnosed as ASD according to the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-V) were enrolled in this study. Sleep disturbances were recorded in the standard questionnaire. The mean age was 49.78±20.69 months and male to female ratio was almost 4:1. More than two third (69.2%) patients had sleep awakening in mild, 7(36.8%) in moderate autism spectrum disorder. The difference was statistically significant (p<0.05) among three groups. More than half (56.4%) patients had sleep starting 12 am to 2 am in mild, 3(15.8%) in moderate autism spectrum disorder. The difference was statistically significant (p<0.05) among three groups. Sleep awakening and sleep starting time were significantly associated with autism spectrum disorder.
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12. Maslen C, Hodge R, Tie K, Laugharne R, Lamb K, Shankar R. Constipation in autistic people and people with learning disabilities. Br J Gen Pract;2022 (Jul);72(720):348-351.
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13. Moody CT, Factor RS, Gulsrud AC, Grantz CJ, Tsai K, Jolliffe M, Rosen NE, McCracken JT, Laugeson EA. A pilot study of PEERS® for Careers: A comprehensive employment-focused social skills intervention for autistic young adults in the United States. Res Dev Disabil;2022 (Jun 27);128:104287.
BACKGROUND: Autistic young adults are at elevated risk for poor employment/internship outcomes, despite having many strengths relevant to the workplace. Currently, very few employment interventions for this population comprehensively promote skills development and success across the various stages of employment. AIMS: To address this gap, the current study aimed to test the feasibility, acceptability, and efficacy of a novel college to career intervention program, PEERS® for Careers. METHODS AND PROCEDURES: Twelve autistic young adults (19-30 years old) were enrolled and matched to a career coach. The pilot program consisted of 90-minute sessions delivered twice per week, for 10 weeks, covering content relevant to obtaining, maintaining, and thriving in employment/internship settings. OUTCOMES AND RESULTS: Results indicated that young adults showed a significant improvement in employment-related social skills knowledge, p < .001. Participants also reported significant improvements in their feelings of preparedness for employment over the course of the study, p = .009, with all young adults self-identifying as "somewhat prepared" or "very prepared" post-intervention. Additionally, in only a brief 10-week intervention, a slight increase in participants who secured or maintained internship/employment-related activities was observed. Overall, lesson content and coaching were perceived as helpful. No significant changes were observed in self-reported autism symptomatology. CONCLUSIONS AND IMPLICATIONS: In sum, the PEERS® for Careers program shows promise as a college to career intervention program for autistic young adults. WHAT THIS PAPER ADDS: There is a dearth of evidence-based interventions for autistic young adults, despite significant need for supports to bolster vocational and relational success. This paper is the first to evaluate the PEERS® for Careers intervention in a pilot study by exploring feasibility, acceptability, and efficacy of this novel college to career intervention program, which teaches ecologically valid employment-related skills using a strengths-based approach. Results suggest PEERS® for Careers shows significant potential as a comprehensive intervention to address the multi-faceted needs of autistic individuals in the workplace through didactic lessons, behavioral rehearsals to practice skills, and out of group assignments. Autistic young adult participants reported a high level of satisfaction with the program and lessons surrounding employment-related social skills. They also endorsed increased feelings of internship/employment readiness and increased knowledge of workplace etiquette, with most participants maintaining or securing employment. This study supports PEERS® for Careers as a feasible intervention that likely benefits autistic individuals' vocational outcomes, which emerge as a strong correlate of well-being in adulthood. This work is essential to furthering the development and provision of effective services to meet needs of the autism community.
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14. Pervin M, Hagmayer Y. Attitudes Towards Evidence-Based Practice of Professionals Working with Children and Adolescents with Autism Spectrum Disorder in Bangladesh. Adm Policy Ment Health;2022 (Jun 30)
Like in many lower-middle-income countries (LMIC), progress in implementing evidence-based practices (EBPs) for children with autism spectrum disorder (ASD) has been slow in Bangladesh. This cross-sectional study examined professionals’ attitudes towards evidence-based practice (EBP) for children and adolescents with ASD and explored how providers’ demographic factors are related to attitudes to and adoption of EBPs in Bangladesh. The sample consisted of 150 mental health professionals and special teachers from the urban area of Dhaka. Attitudes were assessed by the Evidence-based Practice Attitude Scale-36. Findings indicated that professionals have favorable attitudes towards EBP. Their attitudes varied depending on service settings (public clinical, private clinical, and special school) and caseload per year. Professionals who work in private and special school settings claimed to be more willing to adopt an EBP when required and perceived a higher fit of EBPs and their work than those in public clinical settings. The number of different EBPs used also differed by service setting. Every type of intervention (except medication) was used by more professionals in special schools than in private and public clinical settings. Many professionals reported few barriers to the implementation of EBPs. These findings indicate conditions that are often conducive to the implementation of EBPs. However, these results do not reflect the situation in rural areas, in which poverty is more widespread and the number of specialized professionals is low.
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15. Schulte-Rüther M, Kulvicius T, Stroth S, Wolff N, Roessner V, Marschik PB, Kamp-Becker I, Poustka L. Using machine learning to improve diagnostic assessment of ASD in the light of specific differential and co-occurring diagnoses. J Child Psychol Psychiatry;2022 (Jul 1)
BACKGROUND: Diagnostic assessment of ASD requires substantial clinical experience and is particularly difficult in the context of other disorders with behavioral symptoms in the domain of social interaction and communication. Observation measures such as the Autism Diagnostic Observation Schedule (ADOS) do not take into account such co-occurring disorders. METHOD: We used a well-characterized clinical sample of individuals (n = 1,251) that had received detailed outpatient evaluation for the presence of an ASD diagnosis (n = 481) and covered a range of additional overlapping diagnoses, including anxiety-related disorders (ANX, n = 122), ADHD (n = 439), and conduct disorder (CD, n = 194). We focused on ADOS module 3, covering the age range with particular high prevalence of such differential diagnoses. We used machine learning (ML) and trained random forest models on ADOS single item scores to predict a clinical best-estimate diagnosis of ASD in the context of these differential diagnoses (ASD vs. ANX, ASD vs. ADHD, ASD vs. CD), in the context of co-occurring ADHD, and an unspecific model using all available data. We employed nested cross-validation for an unbiased estimate of classification performance and made available a Webapp to showcase the results and feasibility for translation into clinical practice. RESULTS: We obtained very good overall sensitivity (0.89-0.94) and specificity (0.87-0.89). In particular for individuals with less severe symptoms, our models showed increases of up to 35% in sensitivity or specificity. Furthermore, we analyzed item importance profiles of the ANX, ADHD, and CD models in comparison with the unspecific model revealing distinct patterns of importance for specific ADOS items with respect to differential diagnoses. CONCLUSIONS: ML-based diagnostic classification may improve clinical decisions by utilizing the full range of information from detailed diagnostic observation instruments such as the ADOS. Importantly, this strategy might be of particular relevance for older children with less severe symptoms for whom the diagnostic decision is often particularly difficult.
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16. Wang Y, Guo X, Hong X, Wang G, Pearson C, Zuckerman B, Clark AG, O’Brien KO, Wang X, Gu Z. Association of mitochondrial DNA content, heteroplasmies and inter-generational transmission with autism. Nat Commun;2022 (Jul 1);13(1):3790.
Mitochondria are essential for brain development. While previous studies linked dysfunctional mitochondria with autism spectrum disorder (ASD), the role of the mitochondrial genome (mtDNA) in ASD risk is largely unexplored. This study investigates the association of mtDNA heteroplasmies (co-existence of mutated and unmutated mtDNA) and content with ASD, as well as its inter-generational transmission and sex differences among two independent samples: a family-based study (n = 1,938 families with parents, probands and sibling controls) and a prospective birth cohort (n = 997 mother-child pairs). In both samples, predicted pathogenic (PP) heteroplasmies in children are associated with ASD risk (Meta-OR = 1.56, P = 0.00068). Inter-generational transmission of mtDNA reveals attenuated effects of purifying selection on maternal heteroplasmies in children with ASD relative to controls, particularly among males. Among children with ASD and PP heteroplasmies, increased mtDNA content shows benefits for cognition, communication, and behaviors (P ≤ 0.02). These results underscore the value of exploring maternal and newborn mtDNA in ASD.
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17. Yi J, Kim W, Lee J. Effectiveness of the SCERTS Model-Based Interventions for Autistic Children: A Systematic Review. J Speech Lang Hear Res;2022 (Jun 30):1-15.
PURPOSE: This systematic review aimed to examine the effectiveness of the Social Communication, Emotional Regulation, and Transactional Support (SCERTS) Model-based interventions in supporting developmental skills of children who were diagnosed with or at increased likelihood of autism. METHOD: We searched six electronic databases, in addition to Google Scholar and the reference lists, using terms related to SCERTS, the Early Social Interaction project, and autism spectrum disorder. Of the 70 articles, six published between 2014 and 2021 (a total of 455 children) were eligible for inclusion and were analyzed in terms of study design, type of publication, participant characteristics, intervention procedures, and major findings. RESULTS: Most reviewed studies that were relatively less vulnerable to the given risk of bias suggested that SCERTS may be an effective approach for promoting children’s social communication skills, and implementers were able to achieve an adequate level of intervention fidelity through training. Further implications could not be drawn concerning children’s language, reduction in restricted repetitive behaviors, emotional regulation, adaptive behavior, play, cognitive skills, academic competence, and motor skills due to contradicting findings within limited evidence. CONCLUSIONS: Although SCERTS is a promising intervention with emerging evidence, more methodologically rigorous studies are needed to progress the research base of SCERTS and draw firm conclusions about its effectiveness in improving a wide range of skills for children and implementers. Several areas for future research are discussed. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.20151842.