Pubmed du 13/10/22
1. Adams JB, Kirby J, Audhya T, Whiteley P, Bain J. Vitamin/mineral/micronutrient supplement for autism spectrum disorders: a research survey. BMC pediatrics. 2022; 22(1): 590.
BACKGROUND: Vitamin and mineral supplements are widely used by children and adults diagnosed with autism spectrum disorder (ASD). Several studies have reported benefits of such supplements in resolving nutritional deficiencies, treating various metabolic problems and improving symptoms and overall quality of life. METHODS: This research survey collected evaluations from 161 people about the effectiveness of ANRC-Essentials Plus (ANRC-EP), a vitamin/mineral/micronutrient supplement designed for children and adults with autism. Although this was an open-label survey, results were compared with a three-month randomized double-blind placebo-controlled study of an earlier version of the supplement. Evaluations included the Parent Global Impressions of Autism (PGIA) and the Overall Benefit/Adverse Effect scale of the National Survey on Treatment Effectiveness for Autism (NSTEA). RESULTS: The participants reported substantially higher Average PGIA Scores than the placebo group in a similar previous study, with an estimated effect size of 0.66. Based on the NSTEA questionnaire, 73% of participants rated the Overall Benefit as Moderate, Good, or Great, with scores that were substantially higher than the NSTEA study found for multi-vitamins, the average of 58 nutraceuticals, and the average of 28 psychiatric and seizure medications. The Overall Adverse Effect score was low (0.25/3.0), similar or slightly higher than other nutraceuticals, and much lower than the average of 28 psychiatric and seizure medications (0.9/3.0). Sub-analysis found that the Overall Benefit of ANRC-EP was not significantly affected by gender, age, autism severity, diet quality, self-limited diet, use of psychiatric or seizure medications, dosage, developmental history, intellectual disability, or seizures. This indicates that ANRC-EP may be beneficial for a wide range of children and adults with ASD. A limitation of this study is the retrospective nature of the survey, and that participants who had good benefits were more likely to respond. CONCLUSIONS: This study found that ANRC-EP had significant benefits for a wide range of symptoms, and low adverse effects.
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2. Ali G, Habbab W, Alkhadairi G, Al-Shaban FA, Stanton LW. Generation of induced pluripotent stem cell lines from nonaffected parents and monozygotic triplets affected with autism spectrum disorder and epilepsy. Stem cell research. 2022; 65: 102943.
We have generated induced pluripotent stem cell (iPSC) lines from monozygotic triplets with a rare homozygous mutation in NAPB gene (c.354+2T>G). iPSC lines were also generated from their consanguineous parents who were both heterozygous for the inherited NAPB mutation. The iPSC lines were generated using non-integrating Sendai viral vectors. All iPSC lines showed prototypical stem cell morphology, expressed pluripotency markers and were able to differentiate to all three germ lineages. These iPSC lines will be useful to explore the molecular function of NAPB in neurophysiology and how its dysfunction potentially contributes to the progression of neurodevelopmental disorders associated with autism and epilepsy.
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3. Arias-Pujol E, Mestres M, Miralbell J, Bachs N, Anguera MT. Implementation and evaluation in low intensity intervention programs from the CONNECT perspective of mixed methods: Application in a case of an autistic child. Frontiers in psychology. 2022; 13: 998658.
There has been a comprehensive development over the last few years of low intensity intervention programs that are implemented within a user context and that are made up of everyday life activities, and it has been necessary to adapt the necessary methodological channels in order to guarantee an adequate resolution pathway. The mixed method perspective offers a suitable framework, and observational methodology – in itself considered mixed method – is appropriate for studying the implementation and evaluation of low intensity intervention programs, allowing the development of the QUAL-QUAN-QUAL stages that correspond to the connect integration pathway of mixed methods. In this work it was applied to a single case, in a low intensity intervention, retrieving valuable information obtained, but systematizing it and applying quantitizing to the qualitative data that was treated quantitatively in a rigorous manner. The aim was to analyze the psychotherapist-patient interaction in psychoanalytic psychotherapy, in which we sought to identify which of the therapist’s techniques stimulated actions of reciprocal social interaction in the child, and which techniques inhibited non reciprocal social interactions. The observational design was nomothetic, follow-up, and multidimensional. The patient was a 4-year-old boy with a diagnosis of severe autism spectrum disorder. We used an ad hoc observation instrument combining a field format and a category system. Interobserver agreement was analyzed quantitatively by Cohen’s kappa using the free QSEQ5 software program. Polar coordinate analysis was carried out using the free program HOISAN 2.0. Polar coordinate analysis allows us to obtain an inter-relational map of the connections detected between focal behavior established in each case and the different categories. The results provide objective evidence – backed up by the application of polar-coordinate-based data analysis – that within a framework of psychoanalytic psychotherapy, the techniques of « verbalization » and « vocalization » significantly activate reciprocal social interaction behaviors and inhibit non-social reciprocal behaviors in a child with severe autism spectrum disorder with no language. On the other hand, direct gaze promotes the child’s withdrawal. The results are of key importance as they show the therapist behaviors most useful for promoting social interaction in a child with severe autism.
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4. Beauchamp MLH, Rezzonico S, Bennett T, Duku E, Georgiades S, Kerns C, Mirenda P, Richard A, Smith IM, Szatmari P, Vaillancourt T, Waddell C, Zaidman-Zait A, Zwaigenbaum L, Elsabbagh M. The Influence of Bilingual Language Exposure on the Narrative, Social and Pragmatic Abilities of School-Aged Children on the Autism Spectrum. Journal of autism and developmental disorders. 2022.
We examined the narrative abilities of bilingual and monolingual children on the autism spectrum (AS), whether bilinguals presented stronger social and pragmatic language abilities compared to monolinguals, and the link between narrative, social, and pragmatic language abilities.The narrative, social, and pragmatic language skills of school-aged bilinguals (n = 54) and monolinguals (n = 80) on the AS were assessed using normed measures. Language exposure was estimated through a parent questionnaire.Bilinguals performed similarly to monolinguals on measures of narrative, social, and pragmatic language skills. However, balanced bilinguals performed better on a nonliteral language task.Overall, results indicate that bilingual children on the AS can become as proficient in using language as monolinguals and may enjoy a bilingual advantage.
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5. Birkeneder SL, Sparapani N. Measurements of Spontaneous Communication Initiations in Children with Autism in Preschool through Third Grade Classrooms. Journal of autism and developmental disorders. 2022.
We utilized classroom video observations to examine the frequency and function of spontaneous communication in 112 preschool-3rd grade children with autism within 57 classrooms. Children initiated 7.53 instances (SD = 9.42) of spontaneous communication on average within a 12-minute sample, a rate of 0.69 initiations per minute. Autism features, receptive and expressive language, and adaptive functioning were associated with communication rate. A 4-factor model of spontaneous communication functions exhibited the best relative and absolute fit to the data. Findings highlight, and begin to explain, variability in spontaneous communication children used in classrooms, link individual developmental characteristics to communicative initiations, and provide evidence for conceptualizing and measuring spontaneous communication in learners with autism across classroom activities. Implications and future directions are discussed.
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6. Carpenter KLH, Davis NO, Spanos M, Sabatos-DeVito M, Aiello R, Baranek GT, Compton SN, Egger HL, Franz L, Kim SJ, King BH, Kolevzon A, McDougle CJ, Sanders K, Veenstra-VanderWeele J, Sikich L, Kollins SH, Dawson G. Adaptive Behavior in Young Autistic Children: Associations with Irritability and ADHD Symptoms. Journal of autism and developmental disorders. 2022.
Attention-deficit/hyperactivity disorder (ADHD) symptoms affect 40-60% of autistic children and have been linked to differences in adaptive behavior. It is unclear whether adaptive behavior in autistic youth is directly impacted by co-occurring ADHD symptoms or by another associated feature of both autism and ADHD, such as increased irritability. The current study examined relationships between irritability, ADHD symptoms, and adaptive behavior in 3- to 7-year-old autistic children. Results suggest that, after adjusting for co-occurring ADHD symptoms, higher levels of irritability are associated with differences in social adaptive behavior specifically. Understanding relationships between irritability, ADHD, and adaptive behavior in autistic children is critical because measures of adaptive behavior, such as the Vineland Scales of Adaptive Functioning, are often used as a proxy for global functioning, as well as for developing intervention plans and measuring outcomes as primary endpoints in clinical trials.
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7. Cenzon KF, Bruhn AM, Claiborne DM, Bobzien JL. Use of a Simulated-Virtual Training Module to Improve Dental Hygiene Students’ Self-Reported Knowledge, Attitudes, and Confidence in Providing Care to Children with Autism Spectrum Disorder: A pilot study. Journal of dental hygiene : JDH. 2022; 96(5): 42-51.
Purpose: Autism spectrum disorder (ASD) is a developmental disorder affecting an individual’s ability to communicate, interact, behave, and learn. The purpose of this study was to determine knowledge, attitudes, and confidence of dental hygiene students in providing care to children with ASD as a mechanism for evaluating dental hygiene curricula for patients with special needs.Methods: A simulated-virtual training (SVT) intervention was developed as an interactive approach for educating dental hygiene students on providing care to a child patient with ASD. The SVT intervention consisted of a scenario in which the clinician « interacted » with a child with ASD who was having difficulty in the dental environment. Pre- and post-test surveys measured students’ knowledge, attitudes, and perceived confidence related to providing dental hygiene services to children with ASD prior to and following the intervention. The Wilcoxon Signed Rank was used to determine statistical significance at the p=.05 level.Results: Thirty-three second year dental hygiene students completed the pre- and post-test surveys for a response rate of 97%. Statistically significant differences were observed for self-reported confidence to provide care to patients with ASD upon graduation, assessment of the unique needs of children with ASD, and an understanding of the dental needs for children with ASD (p<0.05). Participants' confidence with performing dental hygiene services on children with ASD greatly increased, with statistically significant difference found for almost all services (i.e., oral exam, oral hygiene instruction, oral photos, radiographs, scaling, fluoride treatment; p<0.05) except selective polishing. Most (90%) agreed that there is a need for additional/elective resources to help increase comfort in providing care to children with ASD.Conclusion: Results indicate the SVT intervention increased students' knowledge, attitudes, self-perceived confidence, and comfort. Dental and dental hygiene curricula could include technologies and intervention methods to advance access to dental care by children with ASD.
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8. Chang YC, Shire S, Shih W, Kasari C. Brief Report: An Exploratory Study of Young Dual Language Learners with Autism in a School-Based Intervention. Journal of autism and developmental disorders. 2022.
Due to core challenges in social communication experienced by many young children with autism, children on the spectrum who are also dual language learners (DLLs) may benefit from developmentally-appropriate language supports in school settings. The current study examined whether home language status moderated the effect of a play-based intervention, JASPER, delivered in the classroom, in children with autism. Fifty-nine preschool children with autism received JASPER over eight weeks. Children who received JASPER improved significantly more in their language skills from entry to exit than children in preschool as usual. Home language status moderated the effect of treatment on receptive language where children of diverse linguistic backgrounds made greater gains in receptive language.
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9. Coakley-Youngs E, Ranatunga M, Richardson S, Getti G, Shorter S, Fivaz M. Autism-associated CHD8 keeps proliferation of human neural progenitors in check by lengthening the G1 phase of the cell cycle. Biology open. 2022; 11(9).
De novo mutations (DNMs) in chromodomain helicase DNA binding protein 8 (CHD8) are associated with a specific subtype of autism characterized by enlarged heads and distinct cranial features. The vast majority of these DNMs are heterozygous loss-of-function mutations with high penetrance for autism. CHD8 is a chromatin remodeler that preferentially regulates expression of genes implicated in early development of the cerebral cortex. How CHD8 haploinsufficiency alters the normal developmental trajectory of the brain is poorly understood and debated. Using long-term single-cell imaging, we show that disruption of a single copy of CHD8 in human neural precursor cells (NPCs) markedly shortens the G1 phase of the cell cycle. Consistent with faster progression of CHD8+/- NPCs through G1 and the G1/S checkpoint, we observed increased expression of E cyclins and elevated phosphorylation of Erk in these mutant cells – two central signaling pathways involved in S phase entry. Thus, CHD8 keeps proliferation of NPCs in check by lengthening G1, and mono-allelic disruption of this gene alters cell-cycle timing in a way that favors self-renewing over neurogenic cell divisions. Our findings further predict enlargement of the neural progenitor pool in CHD8+/- developing brains, providing a mechanistic basis for macrocephaly in this autism subtype.
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10. Erickson KR, Farmer R, Merritt JK, Miletic Lanaghan Z, Does MD, Ramadass K, Landman BA, Cutting LE, Neul JL. Behavioral and brain anatomical analysis of Foxg1 heterozygous mice. PloS one. 2022; 17(10): e0266861.
FOXG1 Syndrome (FS) is a devastating neurodevelopmental disorder that is caused by a heterozygous loss-of-function (LOF) mutation of the FOXG1 gene, which encodes a transcriptional regulator important for telencephalic brain development. People with FS have marked developmental delays, impaired ambulation, movement disorders, seizures, and behavior abnormalities including autistic features. Current therapeutic approaches are entirely symptomatic, however the ability to rescue phenotypes in mouse models of other genetic neurodevelopmental disorders such as Rett syndrome, Angelman syndrome, and Phelan-McDermid syndrome by postnatal expression of gene products has led to hope that similar approaches could help modify the disease course in other neurodevelopmental disorders such as FS. While FoxG1 protein function plays a critical role in embryonic brain development, the ongoing adult expression of FoxG1 and behavioral phenotypes that present when FoxG1 function is removed postnatally provides support for opportunity for improvement with postnatal treatment. Here we generated a new mouse allele of Foxg1 that disrupts protein expression and characterized the behavioral and structural brain phenotypes in heterozygous mutant animals. These mutant animals display changes in locomotor behavior, gait, anxiety, social interaction, aggression, and learning and memory compared to littermate controls. Additionally, they have structural brain abnormalities reminiscent of people with FS. This information provides a framework for future studies to evaluate the potential for post-natal expression of FoxG1 to modify the disease course in this severe neurodevelopmental disorder.
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11. Freeman NC, Paradis P. Parent experiences of obtaining an autism diagnosis for their daughter: An interpretative phenomenological analysis. Autism : the international journal of research and practice. 2022: 13623613221129830.
Autistic females are often diagnosed later than males and are also more likely to be misdiagnosed with other conditions. Co-occurring conditions may also be diagnosed at the time of the assessment but their autism diagnosis is missed. The majority of research examining the parent experience of obtaining an autism diagnosis for their child has included predominantly or exclusively male children in their samples. This study examines the experiences of parents in obtaining an autism diagnosis for their daughters in Australia through interview data which allowed for an exploration of their lived experiences. Several of the parents reported positive feelings of excitement or curiosity in relation to the assessment process which are emotions that have not been reported in earlier studies. While recent research advances have improved our understanding of gender differences in autistic behaviours, the findings of this study suggest that some practitioners have obsolete knowledge which may lead to misdiagnosis or missed diagnosis in some females. Although the extent that these experiences are representative of parents in the wider community is unknown, the fact that they are still being reported in the present day suggests that a proportion of health professionals continue to practice with outdated conceptualisations of autism.
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12. Geissler J, Buchholz H, Meerson R, Kammerer K, Göster M, Schobel J, Ratz C, Taurines R, Pryss R, Romanos M. Smartphone-based behaviour analysis for challenging behaviour in intellectual and developmental disabilities and autism spectrum disorder – Study protocol for the ProVIA trial. Frontiers in neuroscience. 2022; 16: 984618.
BACKGROUND: Challenging behaviour (CB) comprises various forms of aggressive and problematic behaviours frequently occurring in children with intellectual and developmental disability (IDD) or autism spectrum disorder (ASD). CB often arises from impaired communication or problem solving skills. It is often met with coercive measure due to a lack of alternative strategies on the part of the caregiver, while it also impacts on the caregivers due to the exposure to physical harm and high levels of stress. Within the ProVIA project we developed a smartphone-based tool for caregivers of children with IDD and/or ASD to prevent and modify CB. The ProVIA app systematically helps caregivers to identify specific causes of CB and provides individualised practical guidance to prevent CB and consecutive coercive measures, thus aiming to improve the health and well-being of the children and caregivers. METHODS: In this uncontrolled open trial we will enrol N = 25 caregivers of children aged 3-11 years with a diagnosis of IDD and/or ASD. Participants will use the ProVIA-Kids app for 8 weeks. During the intervention phase, participants will conduct behaviour analyses after each instance of CB. The app will summarise the identified putative causes for the CB in each situation, and provide recommendations regarding the handling and prevention of CB. Furthermore, the app will aggregate data from all available behaviour analyses and identify the most relevant (i.e., most frequently reported) risk factors. Measurement points are at baseline (T0), after the intervention (T1) and 12 weeks after the end of the intervention (follow-up; T2). The primary outcome is the absolute change in parental stress (EBI total scale) between T0 and T1. Further aspects of interest are changes in CB severity and frequency, caregiver mood, satisfaction with the parenting role (EFB-K total scale) and experienced parenting competence (FKE total scale). Pre-post comparisons will be analysed with paired sample t-tests. DISCUSSION: ProVIA is pioneering structured behaviour analysis via smartphone, assessing predefined causes of CB and providing feedback and recommendations. If this approach proves successful, the ProVIA-Kids app will be a valuable tool for caregivers to prevent CB and improve their own as well as the children’s quality of life. TRIAL REGISTRATION: The study is registered at https://www.drks.de/drks_web/navigate.do?navigationId=trial.HTML&TRIAL_IDDRKS00029039 (registered May 31, 2022).
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13. Haghighat H, Mirzarezaee M, Araabi BN, Khadem A. A sex-dependent computer-aided diagnosis system for autism spectrum disorder using connectivity of resting-state fMRI. Journal of neural engineering. 2022; 19(5).
Objective.Autism spectrum disorder (ASD) is a prevalent neurodevelopmental disorder with the main symptoms of social communication disabilities. ASD is more than four times more common among males than females. The diagnosis of ASD is currently a subjective process by experts the same for males and females. Various studies have suggested the use of brain connectivity features for the diagnosis of ASD. Also, sex-related biological factors have been shown to play a role in ASD etiology and influence the brain connectivity. Therefore, proposing an accurate computer-aided diagnosis system (CADS) for ASD which considers the sex of subjects seems necessary. In this study, we present a sex-dependent connectivity-based CADS for ASD using resting-state functional magnetic resonance imaging. The proposed CADS classifies ASD males from normal males, and ASD females from normal females.Approach.After data preprocessing, group independent component analysis (GICA) was applied to obtain the resting-state networks (RSNs) followed by applying dual-regression to obtain the time course of each RSN for each subject. Afterwards, functional connectivity measures of full correlation and partial correlation and the effective connectivity measure of bivariate Granger causality were computed between time series of RSNs. To consider the role of sex differences in the classification process, male, female, and mixed groups were taken into account, and feature selection and classification were designed for each sex group separately. At the end, the classification accuracy was computed for each sex group.Main results.In the female group, a classification accuracy of 93.3% was obtained using full correlation while in the male group, a classification accuracy of 86.7% was achieved using both full correlation and bivariate Granger causality. Also, in the mixed group, a classification accuracy of 83.3% was obtained using full correlation.Significance.This supports the importance of considering sex in diagnosing ASD patients from normal controls.
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14. Hedley D, Batterham PJ, Bury SM, Clapperton A, Denney K, Dissanayake C, Fox P, Frazier TW, Gallagher E, Hayward SM, Robinson J, Sahin E, Trollor J, Uljarević M, Stokes MA. The Suicidal Ideation Attributes Scale-Modified (SIDAS-M): Development and preliminary validation of a new scale for the measurement of suicidal ideation in autistic adults. Autism : the international journal of research and practice. 2022: 13623613221131234.
Autistic people may be at higher risk of suicidal behavior than people in the general population. Suicidal behavior may include thinking about suicide or attempting to end one’s own life by suicide. It is important to identify autistic people who may be thinking about suicide. People who are at risk of suicidal behavior can be identified by asking questions about whether they have been thinking about suicide. A specially designed questionnaire, or screening instrument, can help someone ask the best questions to find out if someone has been thinking about suicide. This information can help to identify supports to be put in place to prevent suicidal behavior, such as a suicide attempt. However, autistic people may interpret questions differently than non-autistic people. It is important to use screening tools that have been designed with, and for autistic people. In this study, we examined the Suicidal Ideation Attributes Scale (SIDAS). The SIDAS is an existing tool that was developed to screen for suicidal thinking in the general population. We modified SIDAS for use with autistic adults. We involved autistic people in the process of modifying SIDAS. We called the modified instrument the SIDAS-M. The results of our study showed SIDAS-M may be useful for screening for suicidal thinking in autistic adults who do not have an intellectual disability.
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15. Jiang L, He R, Li Y, Yi C, Peng Y, Yao D, Wang Y, Li F, Xu P, Yang Y. Predicting the long-term after-effects of rTMS in autism spectrum disorder using temporal variability analysis of scalp EEG. Journal of neural engineering. 2022; 19(5).
Objective.Repetitive transcranial magnetic stimulation (rTMS) emerges as a useful therapy for autism spectrum disorder (ASD) clinically. Whereas the mechanisms of action of rTMS on ASD are not fully understood, and no biomarkers until now are available to reliably predict the follow-up rTMS efficacy in clinical practice.Approach.In the current work, the temporal variability was investigated in resting-state electroencephalogram of ASD patients, and the nonlinear complexity of related time-varying networks was accordingly evaluated by fuzzy entropy.Main results.The results showed the hyper-variability in the resting-state networks of ASD patients, while three week rTMS treatment alleviates the hyper fluctuations occurring in the frontal-parietal and frontal-occipital connectivity and further contributes to the ameliorative ASD symptoms. In addition, the changes in variability network properties are closely correlated with clinical scores, which further serve as potential predictors to reliably track the long-term rTMS efficacy for ASD.Significance.The findings consistently demonstrated that the temporal variability of time-varying networks of ASD patients could be modulated by rTMS, and related variability properties also help predict follow-up rTMS efficacy, which provides the potential for formulating individualized treatment strategies for ASD (ChiCTR2000033586).
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16. Keefer A, Singh V, Jang YS, Alon L, Surmacz M, Holingue C, Mostofsky SH, Vasa RA. Exploring the Symptom Profiles of Intolerance of Uncertainty in Autistic Children. Journal of autism and developmental disorders. 2022.
Intolerance of uncertainty (IU) is a multidimensional construct involving maladaptive responses to uncertainty. IU is strongly associated with autism and anxiety, yet no studies have examined its symptom profile in autistic children. This study compares IU symptom profiles in autistic and NT children and in autistic children with and without anxiety using the Intolerance of Uncertainty Scale for Children. Compared to NT peers, autistic children exhibited heightened IU symptoms in all domains, affective, behavioral, and cognitive; affective symptoms had the highest association with autism. Autistic children with anxiety also exhibited elevated IU symptoms in all domains compared to those without anxiety; behavioral IU symptoms had the highest association with anxiety. IU symptom profiles should be considered in assessment and treatment.
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17. Matsuba ESM, Prieve BA, Cary E, Pacheco D, Madrid A, McKernan E, Kaplan-Kahn E, Russo N. A Preliminary Study Characterizing Subcortical and Cortical Auditory Processing and Their Relation to Autistic Traits and Sensory Features. Journal of autism and developmental disorders. 2022: 1-18.
This study characterizes the subcortical auditory brainstem response (speech-ABR) and cortical auditory processing (P1 and Mismatch Negativity; MMN) to speech sounds and their relationship to autistic traits and sensory features within the same group of autistic children (n = 10) matched on age and non-verbal IQ to their typically developing (TD) peers (n = 21). No speech-ABR differences were noted, but autistic individuals had larger P1 and faster MMN responses. Correlations revealed that larger P1 amplitudes and MMN responses were associated with greater autistic traits and more sensory features. These findings highlight the complexity of the auditory system and its relationships to behaviours in autism, while also emphasizing the importance of measurement and developmental matching.
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18. Muldoon DM, Murphy TM, DeBonis DA. « Tan and Crunchy Is Where We Live »: An Interpretative Phenomenological Analysis of Caregivers’ Perspectives of Pediatric Feeding Disorder in Children With Developmental Disability. American journal of speech-language pathology. 2022; 31(6): 2675-87.
PURPOSE: The purpose of this study was to examine caregivers’ perceptions of feeding disorders in their young child who also had a co-occurring developmental disability (DD). METHOD: Using interpretative phenomenological analysis, eight caregivers of children with DD and pediatric feeding disorder (PFD) were interviewed. Interviews were recorded, transcribed, and analyzed for the lived experiences of caregivers. Thematic analysis, member checking, and an audit were completed by three researchers. RESULTS: Three themes emerged: Parenting Journey, Emotions and Repercussions, and Winging It. Results indicated caregivers struggled to find appropriate professional help, referenced lack of confidence in the professionals designated to help, and were often ambivalent in approach to the PFD. Indications were that parents were frequently retelling past experiences as they presented the narrative of the feeding disorder and, as such, created narratives that became part of their present and the future experiences when feeding their child. CONCLUSIONS: Implications for speech-language pathologists are considered. Particularly, interventions that go beyond the immediate environmental variables of the feeding or mealtime environment are considered, including the application of this analysis to necessary psychological flexibility for caregivers of children with PFD.
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19. Nitzan T, Koller J, Ilan M, Faroy M, Michaelovski A, Menashe I, Meiri G, Dinstein I. The Importance of Language Delays as an Early Indicator of Subsequent ASD Diagnosis in Public Healthcare Settings. Journal of autism and developmental disorders. 2022.
Previous studies have reported that ASD children with more severe symptoms are diagnosed earlier. However, previous studies in community settings have mostly relied on retrospective parental reports without the use of quantitative standardized test scores. Here, we evaluated the association of language, cognitive, and ASD severity standardized scores with the age of diagnosis in 1-6-year-old children diagnosed in a public healthcare setting. The results revealed that language scores were the strongest variable associated with the age of diagnosis, explaining ~ 30% of the variability across children. Indeed, all children diagnosed before 30-months of age exhibited moderate-to-severe language delays. These results further substantiate the prominence of language delay as a highly visible symptom associated with earlier ASD diagnosis in community clinical settings.
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20. Revah O, Gore F, Kelley KW, Andersen J, Sakai N, Chen X, Li MY, Birey F, Yang X, Saw NL, Baker SW, Amin ND, Kulkarni S, Mudipalli R, Cui B, Nishino S, Grant GA, Knowles JK, Shamloo M, Huguenard JR, Deisseroth K, Pașca SP. Maturation and circuit integration of transplanted human cortical organoids. Nature. 2022; 610(7931): 319-26.
Self-organizing neural organoids represent a promising in vitro platform with which to model human development and disease(1-5). However, organoids lack the connectivity that exists in vivo, which limits maturation and makes integration with other circuits that control behaviour impossible. Here we show that human stem cell-derived cortical organoids transplanted into the somatosensory cortex of newborn athymic rats develop mature cell types that integrate into sensory and motivation-related circuits. MRI reveals post-transplantation organoid growth across multiple stem cell lines and animals, whereas single-nucleus profiling shows progression of corticogenesis and the emergence of activity-dependent transcriptional programs. Indeed, transplanted cortical neurons display more complex morphological, synaptic and intrinsic membrane properties than their in vitro counterparts, which enables the discovery of defects in neurons derived from individuals with Timothy syndrome. Anatomical and functional tracings show that transplanted organoids receive thalamocortical and corticocortical inputs, and in vivo recordings of neural activity demonstrate that these inputs can produce sensory responses in human cells. Finally, cortical organoids extend axons throughout the rat brain and their optogenetic activation can drive reward-seeking behaviour. Thus, transplanted human cortical neurons mature and engage host circuits that control behaviour. We anticipate that this approach will be useful for detecting circuit-level phenotypes in patient-derived cells that cannot otherwise be uncovered.
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21. Saral D, Olcay S, Ozturk H. Autism Spectrum Disorder: When There is no Cure, There are Countless of Treatments. Journal of autism and developmental disorders. 2022.
We investigated parent reports of use of special education and support services, use of evidence-based practices (EBPs), use of past and current complementary and alternative medicine (CAM) treatments, non-use of CAM treatments, willingness, and unwillingness to use CAM treatments, reasons for use and non-use of CAM treatments, and perceptions of EBPs and CAM treatments in their children’s functioning. We collected data from a total of 166 parents of children with autism spectrum disorder (ASD) through a web-based survey. 94% of the parents reported lifetime use of at least one CAM treatment. Parents weighed on a wide variety of factors in decision-making. CAM treatments use was positively associated with parental educational level, length of time since ASD diagnosis, and child’s ASD severity.
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22. Stallworthy IC, Berry D, Davis S, Wolff JJ, Burrows CA, Swanson MR, Grzadzinski RL, Botteron K, Dager SR, Estes AM, Schultz RT, Piven J, Elison JT, Pruett JR, Jr., Marrus N. Quantifying latent social motivation and its associations with joint attention and language in infants at high and low likelihood for autism spectrum disorder. Developmental science. 2022: e13336.
Social motivation-the psychobiological predisposition for social orienting, seeking social contact, and maintaining social interaction-manifests in early infancy and is hypothesized to be foundational for social communication development in typical and atypical populations. However, the lack of infant social-motivation measures has hindered delineation of associations between infant social motivation, other early-arising social abilities such as joint attention, and language outcomes. To investigate how infant social motivation contributes to joint attention and language, this study utilizes a mixed longitudinal sample of 741 infants at high (HL = 515) and low (LL = 226) likelihood for ASD. Using moderated nonlinear factor analysis (MNLFA), we incorporated items from parent-report measures to establish a novel latent factor model of infant social motivation that exhibits measurement invariance by age, sex, and familial ASD likelihood. We then examined developmental associations between 6- and 12-month social motivation, joint attention at 12-15 months, and language at 24 months of age. On average, greater social-motivation growth from 6-12 months was associated with greater initiating joint attention (IJA) and trend-level increases in sophistication of responding to joint attention (RJA). IJA and RJA were both positively associated with 24-month language abilities. There were no additional associations between social motivation and future language in our path model. These findings substantiate a novel, theoretically driven approach to modeling social motivation and suggest a developmental cascade through which social motivation impacts other foundational skills. These findings have implications for the timing and nature of intervention targets to support social communication development in infancy. HIGHLIGHTS: We describe a novel, theoretically based model of infant social motivation wherein multiple parent-reported indicators contribute to a unitary latent social-motivation factor. Analyses revealed social-motivation factor scores exhibited measurement invariance for a longitudinal sample of infants at high and low familial ASD likelihood. Social-motivation growth from ages 6-12 months is associated with better 12-15-month joint attention abilities, which in turn are associated with greater 24-month language skills. Findings inform timing and targets of potential interventions to support healthy social communication in the first year of life.
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23. Taboas A, Doepke K, Zimmerman C. Short report: Preferences for identity-first versus person-first language in a US sample of autism stakeholders. Autism : the international journal of research and practice. 2022: 13623613221130845.
There is currently disagreement among professionals (such as teachers, therapists, researchers, and clinicians) about the most appropriate and respectful way to refer to individuals with disabilities in general, and those with autism, in particular. Supporters of person-first language feel that it is important to emphasize the person rather than the disorder or disability, and promote the use of terms such as, « person with autism » or « a person with ASD. » The goal is to reduce stereotypes and discrimination and emphasize the person’s individuality rather than their disability. However, some people within the autism community have questioned the use of person-first terms because they are awkward and use an unconventional style of language that draws attention to the disability. Moreover, autistic individuals and their families are beginning to support the use of identity-first language that embraces all aspects of one’s identity. Surveys in the United Kingdom and Australia support the idea that both types of language are preferred by different groups of autism stakeholder groups. In our study, we surveyed autism stakeholders in the United States. Overwhelmingly, autistic adults (n = 299) preferred identity-first language terms to refer to themselves or others with autism. Professionals who work in the autism community (n = 207) were more likely to support and use person-first language. Language is dynamic and our findings support the need for open communication among autism professionals about how we communicate with and about autistic individuals and their families.
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24. Wang X, Fan Q, Yu X, Wang Y. Cellular distribution of the Fragile X mental retardation protein in the inner ear: a developmental and comparative study in the mouse, rat, gerbil, and chicken. The Journal of comparative neurology. 2023; 531(1): 149-69.
The Fragile X mental retardation protein (FMRP) is an mRNA binding protein that is essential for neural circuit assembly and synaptic plasticity. Loss of functional FMRP leads to Fragile X syndrome (FXS), a neurodevelopmental disorder characterized by sensory dysfunction including abnormal auditory processing. While the central mechanisms of FMRP regulation have been studied in the brain, whether FMRP is expressed in the auditory periphery and how it develops and functions remains unknown. In this study, we characterized the spatiotemporal distribution pattern of FMRP immunoreactivity in the inner ear of mice, rats, gerbils, and chickens. Across species, FMRP was expressed in hair cells and supporting cells, with a particularly high level in immature hair cells during the prehearing period. Interestingly, the distribution of cytoplasmic FMRP displayed an age-dependent translocation in hair cells, and this feature was conserved across species. In the auditory ganglion (AG), FMRP immunoreactivity was detected in neuronal cell bodies as well as their peripheral and central processes. Distinct from hair cells, FMRP intensity in AG neurons was high both during development and after maturation. Additionally, FMRP was evident in mature glial cells surrounding AG neurons. Together, these observations demonstrate distinct developmental trajectories across cell types in the auditory periphery. Given the importance of peripheral inputs to the maturation of auditory circuits, these findings implicate involvement of FMRP in inner ear development as well as a potential contribution of periphery FMRP to the generation of auditory dysfunction in FXS.
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25. Xu D, Meng Y, An S, Meng W, Li H, Zhang W, Xue Y, Lan X, Wang X, Li M, Zhang X, Zhihao Z, Zhao Y, Yang H, Zhang C, Zhang R, Zhen Z. Swimming exercise is a promising early intervention for autism-like behavior in Shank3 deletion rats. CNS neuroscience & therapeutics. 2022.
INTRODUCTION: SHANK3 is an important excitatory postsynaptic scaffold protein, and its mutations lead to genetic cause of neurodevelopmental diseases including autism spectrum disorders (ASD), Philan McDermid syndrome (PMS), and intellectual disability (ID). Early prevention and treatment are important for Shank3 gene mutation disease. Swimming has been proven to have a positive effect on neurodegenerative diseases. METHODS: Shank3 gene exon 11-21 knockout rats were intervened by a 40 min/day, 5 day/week for 8-week protocol. After the intervention, the rats were tested to behavioral measures such as learning and memory, and the volume and H-spectrum of the brain were measured using MRI; hippocampal dendritic spines were measured using Golgi staining and laser confocal. RESULTS: The results showed that Shank3-deficient rats had significant deficits in social memory, object recognition, and water maze learning decreased hippocampal volume and number of neurons, and lower levels of related scaffold proteins and receptor proteins were found in Shank3-deficient rats. CONCLUSION: It is suggested that early swimming exercise has a positive effect on Shank3 gene-deficient rats, which provides a new therapeutic strategy for the prevention and recovery of neurodevelopmental disorders.