scholarly journals Motor and sensory features successfully decode autism spectrum disorder and combine with the original RDoC framework to boost diagnostic classification

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Laura A. Harrison ◽  
Anastasiya Kats ◽  
Emily Kilroy ◽  
Christiana Butera ◽  
Aditya Jayashankar ◽  
...  

AbstractSensory processing and motor coordination atypicalities are not commonly identified as primary characteristics of autism spectrum disorder (ASD), nor are they well captured in the NIMH’s original Research Domain Criteria (RDoC) framework. Here, motor and sensory features performed similarly to RDoC features in support vector classification of 30 ASD youth against 33 typically developing controls. Combining sensory with RDoC features boosted classification performance, achieving a Matthews Correlation Coefficient (MCC) of 0.949 and balanced accuracy (BAcc) of 0.971 (p = 0.00020, calculated against a permuted null distribution). Sensory features alone successfully classified ASD (MCC = 0.565, BAcc = 0.773, p = 0.0222) against a clinically relevant control group of 26 youth with Developmental Coordination Disorder (DCD) and were in fact required to decode against DCD above chance. These findings highlight the importance of sensory and motor features to the ASD phenotype and their relevance to the RDoC framework.

2019 ◽  
pp. 1-10
Author(s):  
Adam C. Cunningham ◽  
Jeremy Hall ◽  
Michael J. Owen ◽  
Marianne B. M. van den Bree

Abstract Background The prevalence and impact of motor coordination difficulties in children with copy number variants associated with neurodevelopmental disorders (ND-CNVs) remains unknown. This study aims to advance understanding of motor coordination difficulties in children with ND-CNVs and establish relationships between intelligence quotient (IQ) and psychopathology. Methods 169 children with an ND-CNV (67% male, median age = 8.88 years, range 6.02–14.81) and 72 closest-in-age unaffected siblings (controls; 55% male, median age = 10.41 years, s.d. = 3.04, range 5.89–14.75) were assessed with the Developmental Coordination Disorder Questionnaire, alongside psychiatric interviews and standardised assessments of IQ. Results The children with ND-CNVs had poorer coordination ability (b = 28.98, p < 0.001) and 91% of children with an ND-CNV screened positive for suspected developmental coordination disorder, compared to 19% of controls (OR = 42.53, p < 0.001). There was no difference in coordination ability between ND-CNV genotypes (F = 1.47, p = 0.184). Poorer coordination in children with ND-CNV was associated with more attention deficit hyperactivity disorder (ADHD) (β = −0.18, p = 0.021) and autism spectrum disorder trait (β = −0.46, p < 0.001) symptoms, along with lower full-scale (ß = 0.21, p = 0.011), performance (β = −0.20, p = 0.015) and verbal IQ (β = 0.17, p = 0.036). Mediation analysis indicated that coordination ability was a full mediator of anxiety symptoms (69% mediated, p = 0.012), and a partial mediator of ADHD (51%, p = 0.001) and autism spectrum disorder trait symptoms (66%, p < 0.001) as well as full scale IQ (40%, p = 0.002), performance IQ (40%, p = 0.005) and verbal IQ (38%, p = 0.006) scores. Conclusions The findings indicate that poor motor coordination is highly prevalent and closely linked to risk of mental health disorder and lower intellectual function in children with ND-CNVs. Future research should explore whether early interventions for poor coordination ability could ameliorate neurodevelopmental risk.


Author(s):  
Maria Gevezova ◽  
Danail Minchev ◽  
Iliana Pacheva ◽  
Yordan Sbirkov ◽  
Ralitsa Yordanova ◽  
...  

Background: Although Autism Spectrum Disorder (ASD) is considered a heterogeneous neurological disease in childhood, a growing body of evidence associates it with mitochondrial dysfunction explaining the observed comorbidities. Introduction: The aim of this study is to identify variations in cellular bioenergetics and metabolism dependent on mitochondrial function in ASD patients and healthy controls using peripheral blood mononuclear cells (PBMCs). We hypothesized that PBMCs may reveal the cellular pathology and provide evidence of bioenergetic and metabolic changes accompanying the disease. Method: PBMC from children with ASD and a control group of the same age and gender were isolated. All patients underwent an in-depth clinical evaluation. A well-characterized cohort of Bulgarian children was selected. Bioenergetic and metabolic studies of isolated PBMCs were performed with a Seahorse XFp analyzer. Result: Our data show that PBMCs from patients with ASD have increased respiratory reserve capacity (by 27.5%), increased maximal respiration (by 67%) and altered adaptive response to oxidative stress induced by DMNQ. In addition, we demonstrate а strong dependence on fatty acids and impaired ability to reprogram cell metabolism. The listed characteristics are not observed in the control group. These results can contribute to a better understanding of the underlying causes of ASD, which is crucial for selecting a successful treatment. Conclusion: The current study, for the first time, provides a functional analysis of cell bioenergetics and metabolic changes in a group of Bulgarian patients with ASD. It reveals physiological abnormalities that do not allow mitochondria to adapt and meet the increased energetic requirements of the cell. The link between mitochondria and ASD is not yet fully understood, but this may lead to the discovery of new approaches for nutrition and therapy.


2017 ◽  
Vol 26 (1) ◽  
pp. 43-47 ◽  
Author(s):  
Shorifa Shahjadi ◽  
Arif Salam Khan ◽  
Mesbah Uddin Ahmed

Background: Mitochondrial dysfunction and abnormal brain bioenergetics can cause autism.Cellular function impairment due to mitochondrial dysfunction may cause cognitive impairment, language deficits and abnormal energy metabolism in autism.Objective: The aim of this study was to evaluate biochemical evidence of the mitochondrial dysfunction by measuring blood ammonia, serum lactate, alanine aminotransferase (ALT), aspartate aminotransferase (AST) and creatinine kinase (CK) in autism spectrum disorder children.Methods: This observational type of analytical study with case-control design was conducted in the Department of Physiology of Bangabandhu Sheikh Mujib Medical University (BSMMU), Shahbag, Dhaka. For this study, a total number of 20 Subjects were randomly selected, among which 10 were apparently healthy subjects (control group-A) for comparison and 10 were diagnosed children with autism spectrum disorder (study group-B). 5ml venous blood was collected from both groups for analysis serum CK, AST, ALT, lactate and blood ammonia. Blood ammonia, serum lactate, AST, ALT and CK level were estimated in all children by standard laboratory method. Independent sample‘t’ test was used for statistical analysis. P value <0.05 was accepted as significant. The mean of all the measured biochemical variables in normal children were within normal ranges.Result: Blood ammonia, serum lactate, AST, CK were found significantly higher in autism spectrum disorder children in comparison to control Conclusion: From the result of this study it may be concluded that mitochondrial dysfunction occur in autistic spectrum disorder children .J Dhaka Medical College, Vol. 26, No.1, April, 2017, Page 43-47


2021 ◽  
Vol 5 (10) ◽  
pp. 57
Author(s):  
Vinícius Silva ◽  
Filomena Soares ◽  
João Sena Esteves ◽  
Cristina P. Santos ◽  
Ana Paula Pereira

Facial expressions are of utmost importance in social interactions, allowing communicative prompts for a speaking turn and feedback. Nevertheless, not all have the ability to express themselves socially and emotionally in verbal and non-verbal communication. In particular, individuals with Autism Spectrum Disorder (ASD) are characterized by impairments in social communication, repetitive patterns of behaviour, and restricted activities or interests. In the literature, the use of robotic tools is reported to promote social interaction with children with ASD. The main goal of this work is to develop a system capable of automatic detecting emotions through facial expressions and interfacing them with a robotic platform (Zeno R50 Robokind® robotic platform, named ZECA) in order to allow social interaction with children with ASD. ZECA was used as a mediator in social communication activities. The experimental setup and methodology for a real-time facial expression (happiness, sadness, anger, surprise, fear, and neutral) recognition system was based on the Intel® RealSense™ 3D sensor and on facial features extraction and multiclass Support Vector Machine classifier. The results obtained allowed to infer that the proposed system is adequate in support sessions with children with ASD, giving a strong indication that it may be used in fostering emotion recognition and imitation skills.


2019 ◽  
Author(s):  
Stefanie Schelinski ◽  
Katharina von Kriegstein

We tested the ability to recognise speech-in-noise and its relation to the ability to discriminate vocal pitch in adults with high-functioning autism spectrum disorder (ASD) and typically developed adults (matched pairwise on age, sex, and IQ). Typically developed individuals understood speech in higher noise levels as compared to the ASD group. Within the control group but not within the ASD group, better speech-in-noise recognition abilities were significantly correlated with better vocal pitch discrimination abilities. Our results show that speech-in-noise recognition is restricted in people with ASD. We speculate that perceptual impairments such as difficulties in vocal pitch perception might be relevant in explaining these difficulties in ASD.


2016 ◽  
Vol 33 (S1) ◽  
pp. S360-S360
Author(s):  
B. Tauseef ◽  
Z. Zadeh ◽  
B. Fatima

IntroductionResearch shows that individuals with Autism Spectrum Disorder, struggle with emotional competence as compared to their typically developing counterparts. This leads to internalizing (stress) and externalizing (anger management) problems in the affected population. The stress and anger management program (STAMP) designed by Scarpa et al. is a manualized treatment protocol with good clinical efficacy.ObjectiveThe objective of the present study is to test the feasibility and suitability of STAMP as a systematized treatment protocol in Karachi and to enable the sample population, to become emotionally competent.AimThe aim is to evaluate the effectiveness of STAMP on the reduction of symptoms in the sample population.MethodTen children with high functioning autism spectrum disorder will be selected from various institutes in Karachi, and randomized to experimental and waitlist control group after pre-intervention assessment. Upon completion of the intervention with the experimental group, the waitlist control group will be offered the intervention. Both the groups will be assessed, immediately after the intervention, followed by a one-month follow up assessment.ResultsIt is expected that STAMP will significantly reduce the incidence of problem behaviours as measured by the standardized assessment questionnaires from the manual; as well as significantly reduce the severity of scores on the internalizing and externalizing components of the strength and difficulties questionnaire, in the experimental group as compared to the control group.ConclusionIt is expected that the results of the present study could be utilized to train mental health professionals in Karachi for systematized treatment of ASD and related problems.Disclosure of interestThe authors have not supplied their declaration of competing interest.


2021 ◽  
Vol 85 (4) ◽  
pp. 385-404
Author(s):  
Jokthan Guivarch ◽  
Elisabeth Jouve ◽  
Elodie Avenel ◽  
François Poinso ◽  
Laura Conforti-Roussel

More than half of children who have autism spectrum disorder (ASD) suffer from motor impairment. In a retrospective study, the authors investigated the effect of a body-mediated workshop with dance movement therapy (DMT) on the motor skills and social skills of children with ASD by comparing 10 autistic children aged 7 to 10 years who benefited from DMT with 10 autistic children in a control group. Scores on the Movement Assessment Battery for Children and the Vineland Adaptive Behavior Scale were compared. The body-mediated workshop had significant benefits for motricity, especially manual dexterity, and for relational skills. A body-mediated workshop may have a multimodal effect and requires transmodal training. Regarding the mechanisms that explain the benefits and the cascading effect, the roles of imitation and multimodal connections are important.


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