scholarly journals Genetic and molecular biology of autism spectrum disorder among Middle East population: a review

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Zahra Rahmani ◽  
Mohammad Reza Fayyazi Bordbar ◽  
Mohsen Dibaj ◽  
Maliheh Alimardani ◽  
Meysam Moghbeli
Keyword(s):  
Autism Spectrum Disorder ◽  
Middle East ◽  
Molecular Biology ◽  
Early Detection ◽  
Clinical Manifestations ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Main Body ◽  
Neurodevelopmental Disease ◽  
Middle East Countries

Abstract Background Autism spectrum disorder (ASD) is a neurodevelopmental disease, characterized by impaired social communication, executive dysfunction, and abnormal perceptual processing. It is more frequent among males. All of these clinical manifestations are associated with atypical neural development. Various genetic and environmental risk factors are involved in the etiology of autism. Genetic assessment is essential for the early detection and intervention which can improve social communications and reduce abnormal behaviors. Although, there is a noticeable ASD incidence in Middle East countries, there is still a lack of knowledge about the genetic and molecular biology of ASD among this population to introduce efficient diagnostic and prognostic methods. Main body In the present review, we have summarized all of the genes which have been associated with ASD progression among Middle East population. We have also categorized the reported genes based on their cell and molecular functions. Conclusions This review clarifies the genetic and molecular biology of ASD among Middle East population and paves the way of introducing an efficient population based panel of genetic markers for the early detection and management of ASD in Middle East countries.

Possibility that the Onset of Autism Spectrum Disorder is Induced by Failure of the Glutamine-Glutamate Cycle

2020 ◽  
Vol 14 (2) ◽  
pp. 170-174
Author(s):  
Koichi Kawada ◽  
Nobuyuki Kuramoto ◽  
Seisuke Mimori
Keyword(s):  
Autism Spectrum Disorder ◽  
Endoplasmic Reticulum ◽  
Environmental Factors ◽  
Endoplasmic Reticulum Stress ◽  
Synapse Formation ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Neurodevelopmental Disease ◽  
Number Of Patients ◽  
The Brain

: Autism spectrum disorder (ASD) is a neurodevelopmental disease, and the number of patients has increased rapidly in recent years. The causes of ASD involve both genetic and environmental factors, but the details of causation have not yet been fully elucidated. Many reports have investigated genetic factors related to synapse formation, and alcohol and tobacco have been reported as environmental factors. This review focuses on endoplasmic reticulum stress and amino acid cycle abnormalities (particularly glutamine and glutamate) induced by many environmental factors. In the ASD model, since endoplasmic reticulum stress is high in the brain from before birth, it is clear that endoplasmic reticulum stress is involved in the development of ASD. On the other hand, one report states that excessive excitation of neurons is caused by the onset of ASD. The glutamine-glutamate cycle is performed between neurons and glial cells and controls the concentration of glutamate and GABA in the brain. These neurotransmitters are also known to control synapse formation and are important in constructing neural circuits. Theanine is a derivative of glutamine and a natural component of green tea. Theanine inhibits glutamine uptake in the glutamine-glutamate cycle via slc38a1 without affecting glutamate; therefore, we believe that theanine may prevent the onset of ASD by changing the balance of glutamine and glutamate in the brain.

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.

Automatic Detection and Assessment of Autism Spectrum Disorder

2021 ◽  
pp. 396-425
Author(s):  
Thanga Aarthy M. ◽  
Menaka R. ◽  
Karthik R.
Keyword(s):  
Autism Spectrum Disorder ◽  
Early Detection ◽  
Early Diagnosis ◽  
Neurodevelopmental Disorders ◽  
Pathological Condition ◽  
Neurodevelopmental Disorder ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Attention Deficit Hyperactive Disorder ◽  
Clinical Methods

Children with neurodevelopmental disorders are increasing gradually every year. One in 100 children are diagnosed with brain function disorder. There are wide categories of disorder such as attention deficit hyperactive disorder, learning, autism spectrum disorder (ASD), etc. In this work, the focus is on ASD, its clinical methods, and analysis in various research works. ASD is a neurodevelopmental disorder which affects the intellectual functioning, social interaction (adaptive behavior), and has a specific obsessive interest. At present, there is no known cure for ASD, but the level of the pathological condition can be reduced when it is detected early. Early detection is tough and challenging till date. Many researches were carried out to ease the early detection for clinicians. Each method has its own merits and demerits. This chapter reviews and condenses various research works and their efficacy in analysis for the early diagnosis and improvement in children with autism.

scholarly journals Motor anticipation failure in infants with autism: a retrospective analysis of feeding situations

Autism ◽  
2012 ◽  
Vol 16 (4) ◽  
pp. 420-429 ◽  
Author(s):  
Julie Brisson ◽  
Petra Warreyn ◽  
Josette Serres ◽  
Stephane Foussier ◽  
Jean Adrien-Louis
Keyword(s):  
Autism Spectrum Disorder ◽  
Early Detection ◽  
Retrospective Analysis ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Typical Development ◽  
Adults With Autism ◽  
Home Movies ◽  
Family Home ◽  
Everyday Situation

Previous studies on autism have shown a lack of motor anticipation in children and adults with autism. As part of a programme of research into early detection of autism, we focussed on an everyday situation: spoon-feeding. We hypothesize that an anticipation deficit may be found very early on by observing whether the baby opens his or her mouth in anticipation of the spoon’s approach. The study is based on a retrospective analysis from family home movies. Observation of infants later diagnosed with autism or an autism spectrum disorder (ASD) (n = 13) and infants with typical development (n = 14) between 4 and 6 months old show that the autism/ASD group has an early anticipation deficit.

scholarly journals Evaluation of carnitine levels in dried blood spot samples in children with autism spectrum disorder

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Ozgur Aslan ◽  
Burcu Kardaş ◽  
Mehmet Nuri Özbek ◽  
Bahadır Ercan
Keyword(s):  
Autism Spectrum Disorder ◽  
Treatment Protocol ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Dried Blood Spot ◽  
Control Group ◽  
P Value ◽  
Neurodevelopmental Disease ◽  
Glycine Transporter ◽  
Blood Spot

Abstract Objectives Autism Spectrum Disorder is a neurodevelopmental disease with an average diagnosis age of over 3 years. Carnitine levels in ASD are important because they show potential mitochondrial dysfunction and abnormal fatty acid metabolism. In this study, in ASD children carnitine levels in dried blood spot samples were evaluated and compared with the control group. Methods Twentythree children diagnosed with ASD in Research and Training Hospital (19 boys, 4 girls) and age and gender matched 24 children without ASD were enrolled in this study. 17 carnitines in dried blood samples were measured with LC-MS/MS. Results C0, C2, C4-OH, C5, C5-OH, C6, C16, C18 carnitines were lower (p value 0.037, 0.010, 0.005, 0.032, 0.005, 0.003, 0.043, 0.003, respectively) and C18:1 carnitine was higher (p<0.025) in ASD group compared with control group. Conclusions Comprehensive carnitine levels for ASD are important to establish a treatment protocol for the treatment of ASD behavior and severity. C18:1 carnitine, detected for the first time in the cases with ASD, is important for its high levels and for being a glycine transporter two inhibitor. In ASD cases, the molecular analysis might be suggested for enzymes involved in carnitine metabolism and for glycine transporter 2.

scholarly journals SOME BIOCHEMICAL IMPLICATIONS IN AUTISM SPECTRUM DISORDER

2014 ◽  
Vol 2 (3) ◽  
Author(s):  
Cristiane Pinheiro Lázaro ◽  
Milena Pereira Pondé ◽  
Luiz Erlon A. Rodrigues
Keyword(s):  
Autism Spectrum Disorder ◽  
Repetitive Behavior ◽  
Clinical Manifestations ◽  
Laboratory Diagnosis ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Physiological Processes ◽  
Oppositional Defiant ◽  
Enzymatic Regulation ◽  
Nosological Entity

Autism spectrum disorder (ASD) affects 0.6 to 1% of the population worldwide. It is characterized by a deficit in communication and social interaction, and is associated with restricted and repetitive behavior patterns. Stereotypes include inflexible adhesion to specific non-functional routines and rituals and a persistent concern with parts of objects rather than the object as a whole. Up to the present time, there are no specific tests that permit a laboratory diagnosis of the disorder to be carried out, and the syndrome is confirmed by clinical observation in the first 36 months of the patient’s life. Clinical manifestations such as epilepsy, mental retardation, sleep disorders, hyperactivity, irritability and auto- and heteroaggressiveness may alter the patient’s prognosis. Around 50% of children with ASD fulfill the criteria for attention deficit hyperactivity disorder (ADHD). Symptoms of oppositional defiant disorder (ODD) associated with autism appear to indicate a distinct phenotype requiring specific therapeutic measures. ASD is not a discrete nosological entity but, rather, a multifactorial syndrome associated with different phenotypic and biological presentations. Various disorders such as pathologies of the gastrointestinal tract have been linked to ASD, not only insofar as causality is concerned but also with respect to their role in aggravating the disease. Other associated disorders include lesions in physiological processes such as the redox metabolism, mitochondrial dysfunction and enzymatic regulation of essential metabolites. Currently, studies on direct and indirect markers of mitochondrial metabolism associated with anomalies found in the brain of these patients point to the possibility of these markers being used as tools with which to reach a diagnosis that would be laboratory based rather than merely clinical.

Sign in / Sign up

Export Citation Format

Share Document