scholarly journals A case study of a multiply talented savant with an autism spectrum disorder: neuropsychological functioning and brain morphometry

2009 ◽  
Vol 364 (1522) ◽  
pp. 1425-1432 ◽  
Author(s):  
Gregory L. Wallace ◽  
Francesca Happé ◽  
Jay N. Giedd
Keyword(s):  
Autism Spectrum Disorder ◽  
Neuropsychological Functioning ◽  
Art Music ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Central Coherence ◽  
Control Group ◽  
Brain Morphometry ◽  
Visuospatial Processing

Neuropsychological functioning and brain morphometry in a savant (case GW) with an autism spectrum disorder (ASD) and both calendar calculation and artistic skills are quantified and compared with small groups of neurotypical controls. Good memory, mental calculation and visuospatial processing, as well as (implicit) knowledge of calendar structure and ‘weak’ central coherence characterized the cognitive profile of case GW. Possibly reflecting his savant skills, the superior parietal region of GW's cortex was the only area thicker (while areas such as the superior and medial prefrontal, middle temporal and motor cortices were thinner) than that of a neurotypical control group. Taken from the perspective of learning/practice-based models, skills in domains (e.g. calendars, art, music) that capitalize upon strengths often associated with ASD, such as detail-focused processing, are probably further enhanced through over-learning and massive exposure, and reflected in atypical brain structure.

scholarly journals Challenging Weak Central Coherence: A Brief Exploration of Neurological Evidence from Visual Processing and Linguistic Studies in Autism Spectrum Disorder

2019 ◽  
pp. 136-143
Author(s):  
Jessica Scher Lisa ◽  
Eric Shyman
Keyword(s):  
Autism Spectrum Disorder ◽  
Visual Processing ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Weak Central Coherence ◽  
Central Coherence ◽  
Root Cause ◽  
Visuospatial Processing ◽  
Neuro Imaging

Previous theories have attempted to locate the root cause of Autism Spectrum Disorder (ASD) in terms of a typical central cognitive processes. However, the field of neuroscience is increasingly finding structural and functional differences between autistic and neuro-typical individuals using neuro-imaging technology which either support or challenge earlier cognitive theories. One main area upon which this research has focused is in visuospatial processing, with specific attention to the notion of “weak central coherence” (WCC), which refers to the tendency of individuals with ASD to be unable to interpret “global” information while hyper-focusing on local information. The current paper offers a brief review of findings from selected studies in order to explore available research that challenges the “deficit” characterization of a WCC theory as opposed to a “superiority” characterization of a strong local coherence.

Cognitive Remediation Therapy as a Feasible Treatment for a Young Person With Anorexia Nervosa and Autism Spectrum Disorder Comorbidity: A Case Study

2019 ◽  
Vol 19 (2) ◽  
pp. 115-132 ◽  
Author(s):  
Yasemin Dandil ◽  
Claire Baillie ◽  
Kate Tchanturia
Keyword(s):  
Autism Spectrum Disorder ◽  
Anorexia Nervosa ◽  
Cognitive Remediation ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Self Report ◽  
Complex Case ◽  
Central Coherence ◽  
Cognitive Remediation Therapy

Anorexia nervosa (AN) is a challenging illness to treat with inefficiencies in central coherence and set-shifting known to be cognitive maintaining factors for the eating disorder. AN is further complicated by comorbidities such as autism spectrum disorder (ASD). Cognitive remediation therapy (CRT) aims to address problems with cognitive style and meta-cognition by stimulating the neural connections involved in cognitive processing through cognitive tasks, reflection, and behavioral experiments. However, to date, no reported studies are supporting individual CRT for patients with AN and ASD comorbidity. This single complex case study provides preliminary evidence to support the efficacy of individual CRT in the treatment of a 21-year-old female patient with AN and ASD comorbidity. Clinical and self-report data collected before and after CRT indicate improvements in cognitive flexibility and central coherence, alongside an increase in body mass index (BMI). This case study reflects the possible ways to adapt and calibrate treatment to individual needs and the efficacy of CRT, before proceeding to more complex individual psychological work, such as cognitive behavioral therapy.

scholarly journals Natural language processing (NLP) tools in extracting biomedical concepts from research articles: a case study on autism spectrum disorder

2020 ◽  
Vol 20 (S11) ◽  
Author(s):  
Jacqueline Peng ◽  
Mengge Zhao ◽  
James Havrilla ◽  
Cong Liu ◽  
Chunhua Weng ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Natural Language Processing ◽  
Natural Language ◽  
Language Processing ◽  
Clinical Manifestations ◽  
Predictive Performance ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Research Articles

Abstract Background Natural language processing (NLP) tools can facilitate the extraction of biomedical concepts from unstructured free texts, such as research articles or clinical notes. The NLP software tools CLAMP, cTAKES, and MetaMap are among the most widely used tools to extract biomedical concept entities. However, their performance in extracting disease-specific terminology from literature has not been compared extensively, especially for complex neuropsychiatric disorders with a diverse set of phenotypic and clinical manifestations. Methods We comparatively evaluated these NLP tools using autism spectrum disorder (ASD) as a case study. We collected 827 ASD-related terms based on previous literature as the benchmark list for performance evaluation. Then, we applied CLAMP, cTAKES, and MetaMap on 544 full-text articles and 20,408 abstracts from PubMed to extract ASD-related terms. We evaluated the predictive performance using precision, recall, and F1 score. Results We found that CLAMP has the best performance in terms of F1 score followed by cTAKES and then MetaMap. Our results show that CLAMP has much higher precision than cTAKES and MetaMap, while cTAKES and MetaMap have higher recall than CLAMP. Conclusion The analysis protocols used in this study can be applied to other neuropsychiatric or neurodevelopmental disorders that lack well-defined terminology sets to describe their phenotypic presentations.

Assessment and Treatment of Selective Mutism in a Child With Autism Spectrum Disorder

2020 ◽  
pp. 153465012098345
Author(s):  
Mirela Cengher ◽  
Joy C. Clayborne ◽  
Adrianna E. Crouch ◽  
Julia T. O’Connor
Keyword(s):  
Autism Spectrum Disorder ◽  
Social Interaction ◽  
Environmental Variables ◽  
Behavioral Interventions ◽  
Selective Mutism ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Future Research ◽  
Assessment And Treatment

Over 60% of children diagnosed with selective mutism are also diagnosed with Autism Spectrum Disorder. Previous research established that behavioral interventions are effective at increasing speech in children with both diagnoses. However, few studies conducted assessments to determine environmental variables that inhibit speech, and such assessments are necessary for the development of effective and efficient treatments. This case study describes an assessment that evaluated the function(s) of selective mutism. The results confirmed that the participant did not talk to avoid social interaction and that mutism occurred primarily in the presence of multiple, unfamiliar people. Our first treatment focused on increasing tolerance for social interaction, demonstrated by an increase in speech production in the presence of unfamiliar people. Our second treatment focused on increasing qualitative aspects of the participant’s speech (i.e., both responses and initiations). Finally, we taught the participant’s parents to implement the treatment in naturalistic settings, and the participant demonstrated generalization of treatment effects across people and settings. Implications for clinical practice and future research are discussed.

Cellular Bioenergetic and Metabolic Changes in Patients with Autism Spectrum Disorder

2021 ◽  
Vol 21 ◽  
Author(s):  
Maria Gevezova ◽  
Danail Minchev ◽  
Iliana Pacheva ◽  
Yordan Sbirkov ◽  
Ralitsa Yordanova ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Mononuclear Cells ◽  
Cell Metabolism ◽  
Strong Dependence ◽  
Autism Spectrum ◽  
Metabolic Changes ◽  
Spectrum Disorder ◽  
Control Group ◽  
Peripheral Blood Mononuclear ◽  
And Gender

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.

scholarly journals Mitochondrial Dysfunction in Early Diagnosed Autism Spectrum Disorder Children

2017 ◽  
Vol 26 (1) ◽  
pp. 43-47 ◽  
Author(s):  
Shorifa Shahjadi ◽  
Arif Salam Khan ◽  
Mesbah Uddin Ahmed
Keyword(s):  
Autism Spectrum Disorder ◽  
Mitochondrial Dysfunction ◽  
Venous Blood ◽  
Autism Spectrum ◽  
Serum Lactate ◽  
Spectrum Disorder ◽  
Control Group ◽  
P Value ◽  
Blood Ammonia ◽  
Normal Children

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

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