Pubmed du 11/10/23
1. Alaerts K, Daniels N, Moerkerke M, Evenepoel M, Tang T, Van der Donck S, Chubar V, Claes S, Steyaert J, Boets B, Prinsen J. At the Head and Heart of Oxytocin’s Stress-Regulatory Neural and Cardiac Effects: A Chronic Administration RCT in Children with Autism. Psychotherapy and psychosomatics. 2023: 1.
INTRODUCTION: Intranasal administration of oxytocin presents a promising new approach to reduce disability associated with an autism spectrum disorder diagnosis. Previous investigations have emphasized the amygdala as the neural foundation for oxytocin’s acute effects. However, to fully understand oxytocin’s therapeutic potential, it is crucial to gain insight into the neuroplastic changes in amygdala circuitry induced from chronic oxytocin administrations, particularly in pediatric populations. OBJECTIVE: We aimed to examine the impact of a 4-week course of intranasal oxytocin on amygdala functional connectivity in children with autism, compared to placebo. Additionally, we investigated whether oxytocin improves cardiac autonomic arousal, as indexed by high-frequency heart rate variability. METHODS: Fifty-seven children with autism aged 8-12 years (45 boys, 12 girls) participated in a double-blind, randomized pharmaco-neuroimaging trial involving twice-daily administrations of intranasal oxytocin or placebo. Resting-state fMRI scans and simultaneous, in-scanner heart rate recordings were obtained before, immediately after, and 4 weeks after the nasal spray administration period. RESULTS: Significant reductions in intrinsic amygdala-orbitofrontal connectivity were observed, particularly at the 4-week follow-up session. These reductions were correlated with improved social symptoms and lower cardiac autonomic arousal. Further, oxytocin’s neural and cardiac autonomic effects were modulated by epigenetic modifications of the oxytocin receptor gene. The effects were more pronounced in children with reduced epigenetic methylation, signifying heightened expression of the oxytocin receptor. CONCLUSION: These findings underscore that a 4-week oxytocin administration course decreases amygdala connectivity and improves cardiac autonomic balance. Epigenetic modulators may explain inter-individual variation in responses to oxytocin.
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2. Anderson V, Darling S, Hearps S, Darby D, Dooley J, McDonald S, Turkstra L, Brown A, Greenham M, Crossley L, Charalambous G, Beauchamp MH. Deep phenotyping of socio-emotional skills in children with typical development, neurodevelopmental disorders, and mental health conditions: Evidence from the PEERS. PloS one. 2023; 18(10): e0291929.
OBJECTIVE: Socio-emotional skills, including social competence and social cognition, form the basis for robust relationships and wellbeing. Despite their importance, these skills are poorly defined and measured, particularly in children with developmental vulnerabilities. As a consequence, targets for effective management and treatment remain unclear. We aimed to i) phenotype social competence and social cognition in typically developing children (TDC) and in children with neurodevelopmental or mental health disorders (clinical groups) and ii) establish the relationships between these child-direct measures and parent ratings of social competence and behavior. METHOD: Using a multi-site, cross-sectional study design, we recruited 513 TDC and 136 children with neurodevelopmental (autism spectrum disorder [ASD], attention deficit hyperactivity disorder [ADHD]) or mental health (Anxiety Disorder [ANX]) diagnoses (age range 5-15 years). We administered the Paediatric Evaluation of Emotions, Relationships and Socialisation (PEERS) to children, and parents completed standardised questionnaires rating children’s socio-emotional function. RESULTS: Standardised parent questionnaires revealed a global pattern of everyday socio-emotional impairment that was common to all clinical groups, while PEERS identified disorder-specific socio-cognitive profiles for children with ASD, ADHD and ANX. Compared to TDCs, children with ASD demonstrated global socio-cognitive impairment. Children with ADHD were impulsive, demonstrating difficulties managing speed accuracy trade-offs. Children with ANX exhibited slowed social decision-making, but otherwise intact skills. CONCLUSIONS: Standardized parent questionnaires of child socio-emotional function reveal differences between children with typical and atypical development, but do not yield disorder-specific, socio-emotional profiles. In contrast, findings from the PEERS objective assessment suggest that that ASD, ADHD and ANX are associated with distinct socio-cognitive phenotypes, to more accurately guide and target management and treatment of impaired social competence.
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3. Aswani N. Mistreatments Of Autism Spectrum Disorder. JPMA The Journal of the Pakistan Medical Association. 2023; 73(9): 1937.
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4. Cakar ME, Cummings KK, Bookheimer SY, Dapretto M, Green SA. Age-related changes in neural responses to sensory stimulation in autism: a cross-sectional study. Molecular autism. 2023; 14(1): 38.
BACKGROUND: Sensory over-responsivity (SOR) is an impairing sensory processing challenge in autism spectrum disorder (ASD) which shows heterogenous developmental trajectories and appears to improve into adulthood in some but not all autistic individuals. However, the neural mechanisms underlying interindividual differences in these trajectories are currently unknown. METHODS: Here, we used functional magnetic resonance imaging (fMRI) to investigate the association between age and neural activity linearly and nonlinearly in response to mildly aversive sensory stimulation as well as how SOR severity moderates this association. Participants included 52 ASD (14F) and 41 (13F) typically developing (TD) youth, aged 8.6-18.0 years. RESULTS: We found that in pre-teens, ASD children showed widespread activation differences in sensorimotor, frontal and cerebellar regions compared to TD children, while there were fewer differences between ASD and TD teens. In TD youth, older age was associated with less activation in the prefrontal cortex. In contrast, in ASD youth, older age was associated with more engagement of sensory integration and emotion regulation regions. In particular, orbitofrontal and medial prefrontal cortices showed a nonlinear relationship with age in ASD, with an especially steep increase in sensory-evoked neural activity during the mid-to-late teen years. There was also an interaction between age and SOR severity in ASD youth such that these age-related trends were more apparent in youth with higher SOR. LIMITATIONS: The cross-sectional design limits causal interpretations of the data. Future longitudinal studies will be instrumental in determining how prefrontal engagement and SOR co-develop across adolescence. CONCLUSIONS: Our results suggest that enhanced recruitment of prefrontal regions may underlie age-related decreases in SOR for a subgroup of ASD youth.
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5. Canale S, Weissman B, Noroña CR, Fernández-Pastrana I, Adolphe S, Christiansen A, Reddy A, Augustyn M. Complex Autism Spectrum Disorder: Structural Determinants of Health and Their Impact on the Diagnosis. Journal of developmental and behavioral pediatrics : JDBP. 2023.
Emmanuel is a 6.5-year-old boy who was referred to your evaluation clinic for concerns about his social skills and communication. He arrived in the United States (US) 1 year ago after an immigration trajectory that began in Haiti when he was aged 3 years; passed through Mexico, where the family was in various shelters for over a year; and concluded 2 years later, with the family eventually settling in an urban center in the northeastern United States. While in Mexico, the family was living in a camp without access to utilities. They faced significant food insecurity and experienced multiple relocations because of fears of physical safety.Emmanuel’s native language is Haitian Creole, but he learned some Spanish during the year spent in Mexico. Now in the United States, he has been enrolled for the last year in the public school system, where he participates in an inclusion English as a Second Language kindergarten classroom. The school has expressed concern about several behaviors including bolting from the classroom, shouting out inappropriately, and taking food from other children’s lunches.On initial meeting with a DBP clinician, Emmanuel’s parents report that they do not have any concerns at home about his behavior, although they do feel that he « talks less than his 3 older siblings. » The 6-person household is currently living in one-room, temporary housing; they deny current food insecurity.As part of his evaluation, you perform an Autism Diagnostic Observation Scale-2 Module 3 in English with the support of an in-person Haitian Creole interpreter. Emmanuel does not make eye contact throughout the evaluation but does respond to your questions in a combination of English and Haitian Creole. He can define the concept of a « friend » but cannot name one of his own friends. He is not able to engage in the demonstration task with words but does use gestures to indicate the actions involved in brushing teeth. His free play is perseverative and centers around fighting between the action figures.Brief cognitive testing reveals normal nonverbal intelligence. He is unable to decode in English on achievement testing. The family completes a Social Responsiveness Scale in English, which shows normal scores except in the repetitive behaviors section, where the family endorses pacing and some restricted interests, particularly around video games.He is not yet on an Individualized Education Plan, and there have been no formal assessments from the school except for language dominance testing indicating that his dominant language is Haitian Creole, with emerging English skills. What specific topics are unique to the evaluation for autism in an English language learner with a significant trauma history? What factors should be considered when assessing a child with a history of immigration trauma?
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6. Carmo JC, Langus A, Filipe CN. Editorial: Bridging the initiation of a response hypothesis in autism: from language to motor action. Frontiers in psychology. 2023; 14: 1281336.
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7. Chand P, Sulaiman A, Kirmani S. Potassium Voltage-Gated Channel Subfamily H Member 1 (KCNH1) Missense Mutation Causing Epileptic Encephalopathy And Autistic Behaviour. JPMA The Journal of the Pakistan Medical Association. 2023; 73(9): 1894-6.
The phenotypically similar genetic diseases Zimmermann Laband syndrome (ZLS) and Temple-Baraitser syndrome (TMBTS) cause neurodevelopmental problems. Mutations in the gene coding for potassium voltage-gated channel, primarily KCNH1, cause these symptoms. An uncommon mutation in KCNH1 (p.Arg357Trp) present on Exon 7, reported to replace arginine with tryptophan at codon 357 of the KCNH1 protein c.1069C>T, caused pharma coresistantseizures and autistic behaviour in a 2.7-year-old boy. This mutation causes problems with protein modelling and has yet to be documented in any genetic databases around the world. This mutation was overlapped with GPHN gene, c.828+1G>A, in our patient, causing GPHN related spectrum disorder (autosomal dominant) along with molybdenum cofactor deficiency (autosomal recessive) leading to a neuropsychiatric presentation including autistic behaviour, making diagnosis and management even more complicated.
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8. Chen J, Xie Y, Li Y, Chen X, Fu M, Liu Y, Zhang Z. Assessment of degradability and endothelialization of modified poly L-lactic acid (PLLA) atrial septal defect (ASD) occluders over time in vivo. Journal of cardiothoracic surgery. 2023; 18(1): 283.
OBJECTIVE: To evaluate the fiber-degradation and endothelialization of a modified poly L-lactic acid (PLLA) atrial septal defect (ASD) occluder for a long time in vivo. METHODS: A total of 57 New Zealand rabbits were selected to establish the vasculature implantation model, which would be used to characterize the mechanical properties and pathological reaction of PLLA filaments (a raw polymer of ASD occluder). In total, 27 Experimental piglets were used to create the ASD model for the catheter implantation of PLLA ASD occluders. Then, X-ray imaging, transthoracic echocardiography, histopathology, and scanning electron microscope (SEM) were performed in the experimental animals at 3, 6, 12, and 24 months after implantation. RESULTS: In the rabbit models, the fibrocystic grade was 0 and the inflammatory response was grade 2 at 6 months after vasculature implantation of the PLLA filaments. The mass loss of PLLA filaments increased appreciably with the increasing duration of implantation, but their mechanical strength was decreased without broken. In the porcine models, the cardiac gross anatomy showed that all PLLA ASD occluders were stable in the interatrial septum without any vegetation or thrombus formation. At 24 months, the occluders had been embedded into endogenous host tissue nearly. Pathological observations suggested that the occluders degraded gradually without complications at different periods. SEM showed that the occluders were endothelialized completely and essentially became an integral part of the body over time. CONCLUSION: In the animal model, the modified PLLA ASD occluders exhibited good degradability and endothelialization in this long-term follow-up study.
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9. Close M, Aberbach G, Chan E, Harstad E. Assessing Parental Perceptions of Meaningful Outcomes for Children with Autism Spectrum Disorder. Journal of developmental and behavioral pediatrics : JDBP. 2023.
BACKGROUND: Outcomes of children diagnosed with autism spectrum disorder (ASD) generally focus on cognition, language, behavioral, and adaptive functioning, yet it is unknown whether this reflects patient and caregiver priorities. OBJECTIVE: Identify parental perceptions of ASD outcomes and identify whether health care providers are currently addressing these concerns. METHODS: Participant were 60 parents of school-aged children previously diagnosed with ASD participating in a larger autism outcomes study. Parents answered open-ended question, « What aspect of your child’s functioning matters most for your child at this time? » They also ranked a list of outcome categories (thinking and reasoning skills, daily living skills, etc). Parents answered a second open-ended question « What should healthcare providers be asking about how your child is doing, that they may not be currently asking? » Open-ended independent coding and thematic analysis were used to identify themes for the open-ended questions. RESULTS: The most common themes identified with « what aspect of your child’s functioning matters most » were « Social, » « Communication, » « Emotional, » and « Behavior. » These were similar to the results of a ranking question in which parents ranked « Communicating with and understanding others, » « Social skills, » and « Behavior » as most important. « Emotional » was a unique theme, although there is potential overlap between this and the theme of « Behavior. » The most common theme identified with the question about what health care providers should be asking was « Social, » followed by « Nothing. » CONCLUSION: This study demonstrates that parental concerns largely match previous outcome categories, with the exception of a theme identified as « Emotional » which may overlap with « Behavior. ».
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10. Dai Y, Deng T, Chen M, Huang B, Ji Y, Feng Y, Liu S, Zhong D, Zhang T, Zhang L. Improving early detection, diagnosis and intervention for children with autism spectrum disorder: A cross-sectional survey in China. Research in developmental disabilities. 2023; 142: 104616.
BACKGROUND: Detection and diagnosis of autism spectrum disorder (ASD) are prerequisites for early interventions. However, few studies focused on this topic. AIM: This study aims to characterize the timing from symptom detection to intervention in children with ASD and identify predictors of age at ASD diagnosis, presence of intervention, and the time lag between detection and diagnosis. METHODS AND PROCEDURES: A cross-sectional survey was conducted with 303 parents (111 fathers and 192 mothers, 21-54 years) of children with ASD in Guangzhou, China. OUTCOMES AND RESULTS: The median time from symptom observation to the first doctor visit was 3 months, while the time to ASD diagnosis averaged 6 months. Most children (76.24 %) were diagnosed within one year after detection, and 25.58 % had no intervention after diagnosis. Predictors of earlier ASD diagnosis included ASD-related symptoms identified at an older age, less serious symptoms, and initial symptoms with atypical motor development and sensory anomalies. ASD-related symptoms observed at an older age, initial symptoms with social deficits, sensory anomalies, and without language impairment, primary caregivers other than parents, families with lower income, and less social support utilization increased the odds of a time lag between detection and diagnosis. Children with fathers having lower education were less likely to receive interventions. CONCLUSIONS AND IMPLICATIONS: Earlier ASD identification and intervention might be facilitated by health education on typical symptoms of ASD for parents with young children and incorporating ASD screening during routine health examinations for children. For children whose primary caregivers are not their parents and from lower-income families, additional support may be required for timely diagnosis after reporting ASD-related symptoms. Moreover, more intervention supports are expected for children whose fathers have lower education levels. Helping families take full advantage of support is also important for early diagnosis and intervention.
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11. Gajre MP, Biswas S, Aseri H, Pradhan S. Short-term Outcome of Social Skills Group Therapy Intervention in School Aged Children With Autism. Indian pediatrics. 2023; 60(10): 839-42.
OBJECTIVE: To study the impact of social skills group training (SSGT) in children with autism aged 8-12 years. To compare baseline (T1), post-intervention immediate (T2) and 3 months post-intervention (T3) scores. METHODS: Single-arm interventional study in 30 children with autism, aged 8-12 years with intelligence quotient >70. Interdisciplinary therapists conducted a 90-minute weekly SSGT (10 sessions) for 3 months (August-October, 2019). Outcomes were evaluated with standardized tests- Vineland Social Maturity Scale (VSMS), Vineland Social Maturity Scale- Social Quotient (VSMS-SQ), Social Communication Questionnaire (SCQ), Parent Rated Social Responsiveness Scale-2 (pSRS-2) done at baseline and at T2 and T3. RESULTS: The mean (SD) scores at T1 and T3 were as follows: VSMS score at T1 was 66.63 (5.05), T3 was 71.03 (5.84) (P<0.001); SQ at T1 = 75.99 (6.399), T3 = 79.83 (8.94) (P=0.016), respectively. The mean (SD) SCQ score at T1 was 27.3 (12.28), T2 was 25.8 (6.36), T3 = 27.1 (7.16) (P>0.05 for T1- T2, T2-T3, P=0.013 for T1-T3). The mean (SD) pSRS-2 score at T1 = 83.5 (6.68), T2 = 80.1 (7.87), T3 = 76.9 (8.07) (P<0.001), showing decline in severity after SSGT. CONCLUSIONS: Weekly SSGT done over 3 months showed significant improvement in social skills, which were sustained up to 3 months post-intervention.
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12. García-Vázquez P, Seijo-Zazo E, Vilella-Martín C, Serrano-García A, Gómez-Martínez R, Franch-Pato CM. Social cognition interventions for adolescents with autism spectrum disorder. A systematic review. Actas espanolas de psiquiatria. 2023; 51(4): 167-75.
Early intervention during childhood in patients with Autism Spectrum Disorder (ASD) has been strongly advocated. As adolescence is reached, new, more complex social demands emerge. These demands require a therapeutic approach that has not been widely studied. The aim of this review is to examine and synthesize the existing literature on social cognition interventions in adolescence and lay the groundwork for future interventions.
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13. Greenberg RL, Guzick AG, Schneider SC, Weinzimmer SA, Kook M, Perozo Garcia AB, Storch EA. Depressive Symptoms in Autistic Youth with Anxiety Disorders. Journal of developmental and behavioral pediatrics : JDBP. 2023.
OBJECTIVE: Anxiety and depression often coexist in youth and share overlapping symptomatology; however, little is known about the comorbidity of anxiety and depression in autistic youth. This study explores (1) the frequency of depressive symptoms among autistic children with clinically significant anxiety, (2) clinical variables that may be associated with elevated depressive symptoms, and (3) whether pretreatment depressive symptoms predict cognitive behavioral therapy (CBT) outcomes for anxiety. METHOD: Children aged 7 to 13 years (N = 87) and their parents participated in a randomized controlled trial comparing 2 versions of a parent-led, telehealth-delivered CBT program. Parents and children completed a variety of clinical assessments and self-report questionnaires before and after treatment. RESULTS: Fifty-seven percent of the child sample reported experiencing elevated depressive symptoms while roughly 20% of parents reported elevated depressive symptoms in their child. A strong association between anxiety and depression was found. Heightened feelings of loneliness, per child report, and functional impairment, per parent report, were found to be uniquely associated with elevated depressive symptoms. Finally, depressive symptoms were not a significant predictor of CBT outcomes for anxiety. CONCLUSION: Findings suggest high degrees of comorbidity between anxiety and depression among autistic children and that feelings of loneliness, anxiety, and functional impairment may be early indicators of mood-related concerns. Further research is needed to determine the full extent of the association between anxiety and depression and additional options for treating depression in autistic children.
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14. Gros G, Miranda Marcos R, Latrille A, Saitovitch A, Gollier-Briant F, Fossati P, Schmidt L, Banaschewski T, Barker GJ, Bokde ALW, Desrivières S, Grigis A, Garavan H, Gowland P, Heinz A, Brühl R, Martinot JL, Paillère Martinot ML, Artiges E, Nees F, Papadopoulos Orfanos D, Poustka L, Hohmann S, Holz N, Fröhner JH, Smolka MN, Vaidya N, Walter H, Whelan R, Schumann G, Lemaitre H, Vulser H. Whole-brain gray matter maturation trajectories associated with autistic traits from adolescence to early adulthood. Brain structure & function. 2023.
A growing number of evidence supports a continued distribution of autistic traits in the general population. However, brain maturation trajectories of autistic traits as well as the influence of sex on these trajectories remain largely unknown. We investigated the association of autistic traits in the general population, with longitudinal gray matter (GM) maturation trajectories during the critical period of adolescence. We assessed 709 community-based adolescents (54.7% women) at age 14 and 22. After testing the effect of sex, we used whole-brain voxel-based morphometry to measure longitudinal GM volumes changes associated with autistic traits measured by the Social Responsiveness Scale (SRS) total and sub-scores. In women, we observed that the SRS was associated with slower GM volume decrease globally and in the left parahippocampus and middle temporal gyrus. The social communication sub-score correlated with slower GM volume decrease in the left parahippocampal, superior temporal gyrus, and pallidum; and the social cognition sub-score correlated with slower GM volume decrease in the left middle temporal gyrus, the right ventromedial prefrontal and orbitofrontal cortex. No longitudinal association was found in men. Autistic traits in young women were found to be associated with specific brain trajectories in regions of the social brain and the reward circuit known to be involved in Autism Spectrum Disorder. These findings support both the hypothesis of an earlier GM maturation associated with autistic traits in adolescence and of protective mechanisms in women. They advocate for further studies on brain trajectories associated with autistic traits in women.
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15. Khan AJ, Afrose T, Nuha FA, Islam MA, Ahmad MSB. Bruxism management in individuals with autism spectrum disorder and down syndrome – A systematic review. Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry. 2023.
BACKGROUND: In dentistry, association between bruxism and individuals with autism spectrum disorders (ASD) and Down Syndrome (DS) is high. Bruxism is one of the most common oral and psychophysiological disorders, that is still an unsolved issue with limited data. OBJECTIVES: The purpose of this systematic review (SR) was to evaluate evidence about bruxism and its management in individuals with ASD and DS. MATERIALS AND METHODS: The researchers performed an electronic search using keywords on three databases, reference lists and complemented by manual searching from January 2000 to February 2023 to find out the relevant documents. An extensive literature review using the « Preferred Reporting Items for Systematic Review and Meta Analysis » method was carried out. PICO parameters were formulated, and studies risk of bias was evaluated using the JBI critical appraisal checklist tool for case reports. RESULTS: Out of 527 documents, 8 case studies and one review paper were identified as final articles for data synthesis. The findings showed, bruxism was reduced for all the participants with ASD and DS after implementation of functional analysis or dental treatment. CONCLUSION: The current SR found that despite the positive results of all the studies, there was a lack of evidence due to a limited number of studies and only case studies were conducted through functional analysis and dental treatment. NOVELTY: This SR is the first study on bruxism treatments in individuals with ASD and DS that included all the available studies (n = 9) since last 23 years and the first study that specifically addresses the incorporation of case reports in a systemic review.
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16. Kharrat M, Issa AB, Tlili A, Jallouli O, Alila-Fersi O, Maalej M, Chouchen J, Ghouylia Y, Kamoun F, Triki C, Fakhfakh F. A Novel Mutation in the MAP7D3 Gene in Two Siblings with Severe Intellectual Disability and Autistic Traits: Concurrent Assessment of BDNF Functional Polymorphism, X-Inactivation and Oxidative Stress to Explain Disease Severity. Journal of molecular neuroscience : MN. 2023.
Intellectual disabilities (ID) and autism spectrum disorders (ASD) are characterized by extreme genetic and phenotypic heterogeneity. However, understanding this heterogeneity is difficult due to the intricate interplay among multiple interconnected genes, epigenetic factors, oxidative stress, and environmental factors. Employing next-generation sequencing (NGS), we revealed the genetic cause of ID and autistic traits in two patients from a consanguineous family followed by segregation analysis. Furthermore, in silico prediction methods and 3D modeling were conducted to predict the effect of the variants. To establish genotype-phenotype correlation, X-chromosome inactivation using Methylation-specific PCR and oxidative stress markers were also investigated. By analyzing the NGS data of the two patients, we identified a novel frameshift mutation c.2174_2177del (p.Thr725MetfsTer2) in the MAP7D3 gene inherited from their mother along with the functional BDNF Val66Met polymorphism inherited from their father. The 3D modeling demonstrated that the p.Thr725MetfsTer2 variant led to the loss of the C-terminal tail of the MAP7D3 protein. This change could destabilize its structure and impact kinesin-1’s binding to microtubules via an allosteric effect. Moreover, the analysis of oxidative stress biomarkers revealed an elevated oxidative stress in the two patients compared to the controls. To the best of our knowledge, this is the first report describing severe ID and autistic traits in familial cases with novel frameshift mutation c.2174_2177del in the MAP7D3 gene co-occurring with the functional polymorphism Val66M in the BDNF gene. Besides, our study underlines the importance of investigating combined genetic variations, X-chromosome inactivation (XCI) patterns, and oxidative stress markers for a better understanding of ID and autism etiology.
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17. Lopes-Herrera SA, Costa DGS, Santos TRD, Martins A. Comparison between the socio-educational profiles of children with verbal and non-verbal Autism Spectrum Disorder. CoDAS. 2023; 35(5): e20210317.
PURPOSE: Compare the psychoeducational profiles of children with verbal and non-verbal Autism Spectrum Disorder (ASD). METHODS: Cross-sectional study conducted with a sample of 30 children with a medical diagnosis of ASD (15 verbal and 15 non-verbal) aged 2-9 years. The Psychoeducational Profile-Revised (PEP-R) scale was applied to assess the children’s development. The data were analyzed quantitatively and comparatively. Analysis of covariance (ANCOVA) was performed to evaluate the compatibility between the groups regarding the scores obtained in each PEP-R area, with chronological age as the covariate, and Student’s t-Test was used for the independent samples (p≤0.001). RESULTS: The scores in the different areas of the PEP-R were higher in the verbal group, with associations between language development and cognitive and social adaptive skills in the studied sample. Comparison between the groups showed a lower profile of the non-verbal group, with statistically significant differences in the areas of imitation, perception, gross and fine motor coordination, eye-hand coordination, cognitive performance, and verbal performance. CONCLUSION: The goal of comparing the psychoeducational profiles of verbal and non-verbal ASD children was reached, and statistically significant differences were observed. The children with non-verbal ASD presented a lower psychoeducational profile compared with that of verbal ASD children. Further studies with larger samples, delimited age groups, and more specific tests in each developmental area are suggested.
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18. McVey AJ, Glaves KJ, Seaver S, Casagrande KA. The ethical imperative to honor autistic clients’ autonomy in mental health treatment. Frontiers in psychiatry. 2023; 14: 1259025.
Autistic adolescents and adults commonly experience mental health concerns; however, mental health clinicians may hold implicit stigmatizing views of autism that contribute to case conceptualization and treatment goal setting that align more with caregivers’ than clients’ goals. This impingement on client autonomy is concerning, problematic, and potentially harmful for autistic clients who are of an age to set their own treatment agenda regardless of co-occurring intellectual disability and/or language delays. An application of the shared decision-making framework, an evidence-based tool for promoting client autonomy, can help to avoid these challenges in treatment. In this perspective, we use a case vignette as an anchor for discussing the imperative of honoring autistic clients’ autonomy in mental health treatment and guiding shared decision-making to reduce stigma, promote autonomy, and increase collaborative care for autistic clients in mental health treatment.
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19. Nies KJ, Baldwin J, Kaur M. Early Motor Delays During the First 2 Years of Life in Autism Spectrum Disorder: A Scoping Review. Pediatric physical therapy : the official publication of the Section on Pediatrics of the American Physical Therapy Association. 2023.
PURPOSE: To summarize and appraise the emerging evidence on early motor skills of infants later diagnosed with autism spectrum disorder (ASD), and the association of early motor delays to later ASD diagnosis/characteristics. METHODS: A literature search was conducted for studies published from 2000 to 2023 on the motor skills of infants later diagnosed with ASD, followed by screening and data extraction. RESULTS: Current evidence suggested presence of early motor deficits including poor anticipatory movements, postural control, and gross/fine motor skills during the first 2 years of ASD. However, there was variability among studies with regard to study sample and methodology. CONCLUSION: Although motor deficits are evident in infants, it is unclear whether these are specific to ASD or a consequence of general developmental disorder. Future research is needed on the investigation of specificity and severity of early motor delays, which can potentially assist in early identification of ASD.
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20. Rahmatullah N, Schmitt LM, De Stefano L, Post S, Robledo J, Chaudhari GR, Pedapati E, Erickson CA, Portera-Cailliau C, Goel A. Hypersensitivity to distractors in Fragile X syndrome from loss of modulation of cortical VIP interneurons. The Journal of neuroscience : the official journal of the Society for Neuroscience. 2023.
Attention deficit is one of the most prominent and disabling symptoms in Fragile X Syndrome (FXS). Hypersensitivity to sensory stimuli contributes to attention difficulties by overwhelming and/or distracting affected individuals, which disrupts activities of daily living at home and learning at school. We find that auditory or visual distractors selectively impair visual discrimination performance in humans and mice with FXS, but not their typically developing controls. In both species, males and females were examined. Vasoactive intestinal polypeptide (VIP) neurons were significantly modulated by incorrect responses in the post-stimulus period during early distractor trials in WT mice, consistent with their known role as ‘error’ signals. Strikingly, however, VIP cells from Fmr1(-/-) mice showed little modulation in error trials, and this correlated with their poor performance on the distractor task. Thus, VIP interneurons and their reduced modulatory influence on pyramidal cells, could be a potential therapeutic target for attentional difficulties in FXS.Significance StatementSensory hypersensitivity, impulsivity, and persistent inattention are among the most consistent clinical features of FXS, all of which impede daily functioning and create barriers to learning. However, the neural mechanisms underlying sensory over-reactivity remain elusive. To overcome a significant challenge in translational FXS research we demonstrate a compelling alignment of sensory over-reactivity in both humans with FXS and Fmr1(-/-) mice (the principal animal model of FXS) using a novel analogous distractor task. Two photon microscopy in mice reveal that dysfunctional VIP cells contribute to susceptibility to distractors. Implementing research efforts we describe here, can help identify dysfunctional neural mechanisms associated not only with sensory issues, but broader impairments, including those in learning and cognition.