scholarly journals The role of genetic research in autism treatment Phelan-McDermid syndrome: Sasha’s story

2016 ◽  
Vol 14 (2) ◽  
pp. 13-19
Author(s):  
N.V. Solovyeva ◽  
N.S. Kitsul
Keyword(s):  
Autism Spectrum Disorder ◽  
Genetic Research ◽  
Genetic Diagnosis ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Autism Treatment ◽  
The Brain

Different syndromes hide under the mask of autism. Each is caused by a certain genetic fault disturbing the development of the brain and leading to symptoms of autism showing. A correctly done genetic diagnosis helps to avoid mistakes when choosing a way of treatment. The focus of this article is Phelan-McDermid Syndrome, an autism spectrum disorder. The clinical example provided is Sasha’s story: how his treatment changed after specifying the diagnosis.

scholarly journals Pathogenetical and Neurophysiological Features of Patients with Autism Spectrum Disorder: Phenomena and Diagnoses

2019 ◽  
Vol 8 (10) ◽  
pp. 1588
Author(s):  
Yunho Jin ◽  
Jeonghyun Choi ◽  
Seunghoon Lee ◽  
Jong Won Kim ◽  
Yonggeun Hong
Keyword(s):  
Autism Spectrum Disorder ◽  
Neural Development ◽  
Neurodevelopmental Disorder ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Social Deficits ◽  
Restricted Interests ◽  
Neuropsychiatric Comorbidities ◽  
The Brain

Autism spectrum disorder (ASD) is a neurodevelopmental disorder that is accompanied by social deficits, repetitive and restricted interests, and altered brain development. The majority of ASD patients suffer not only from ASD itself but also from its neuropsychiatric comorbidities. Alterations in brain structure, synaptic development, and misregulation of neuroinflammation are considered risk factors for ASD and neuropsychiatric comorbidities. Electroencephalography has been developed to quantitatively explore effects of these neuronal changes of the brain in ASD. The pineal neurohormone melatonin is able to contribute to neural development. Also, this hormone has an inflammation-regulatory role and acts as a circadian key regulator to normalize sleep. These functions of melatonin may play crucial roles in the alleviation of ASD and its neuropsychiatric comorbidities. In this context, this article focuses on the presumable role of melatonin and suggests that this hormone could be a therapeutic agent for ASD and its related neuropsychiatric disorders.

scholarly journals Potential role for immune-related genes in autism spectrum disorders: Evidence from genome-wide association meta-analysis of autistic traits

Autism ◽  
2021 ◽  
pp. 136236132110195
Author(s):  
Martina Arenella ◽  
Gemma Cadby ◽  
Ward De Witte ◽  
Rachel M Jones ◽  
Andrew JO Whitehouse ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Autism Spectrum Disorders ◽  
Genetic Research ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Genome Wide ◽  
Spectrum Disorders ◽  
Immune Related Genes ◽  
Attention To Detail

The clinical heterogeneity of autism spectrum disorders majorly challenges their genetic study. Autism spectrum disorders symptoms occur in milder forms in the general population, as autistic-like traits, and share genetic factors with autism spectrum disorders. Here, we investigate the genetics of individual autistic-like traits to improve our understanding of autism spectrum disorders. We meta-analysed four population-based genome-wide association studies investigating four autistic-like traits – ‘attention-to-detail’, ‘imagination’, ‘rigidity’ and ‘social-skills’ ( n = 4600). Using autism spectrum disorder summary statistics from the Psychiatric Genomic Consortium ( N = 46,350), we applied polygenic risk score analyses to understand the genetic relationship between autism spectrum disorders and autistic-like traits. Using MAGMA, we performed gene-based and gene co-expression network analyses to delineate involved genes and pathways. We identified two novel genome-wide significant loci – rs6125844 and rs3731197 – associated with ‘attention-to-detail’. We demonstrated shared genetic aetiology between autism spectrum disorders and ‘rigidity’. Analysing top variants and genes, we demonstrated a role of the immune-related genes RNF114, CDKN2A, KAZN, SPATA2 and ZNF816A in autistic-like traits. Brain-based genetic expression analyses further linked autistic-like traits to genes involved in immune functioning, and neuronal and synaptic signalling. Overall, our findings highlight the potential of the autistic-like trait–based approach to address the challenges of genetic research in autism spectrum disorders. We provide novel insights showing a potential role of the immune system in specific autism spectrum disorder dimensions. Lay abstract Autism spectrum disorders are complex, with a strong genetic basis. Genetic research in autism spectrum disorders is limited by the fact that these disorders are largely heterogeneous so that patients are variable in their clinical presentations. To address this limitation, we investigated the genetics of individual dimensions of the autism spectrum disorder phenotypes, or autistic-like traits. These autistic-like traits are continuous variations in autistic behaviours that occur in the general population. Therefore, we meta-analysed data from four different population cohorts in which autistic-like traits were measured. We performed a set of genetic analyses to identify common variants for autistic-like traits, understand how these variants related to autism spectrum disorders, and how they contribute to neurobiological processes. Our results showed genetic associations with specific autistic-like traits and a link to the immune system. We offer an example of the potential to use a dimensional approach when dealing with heterogeneous, complex disorder like autism spectrum disorder. Decomposing the complex autism spectrum disorder phenotype in its core features can inform on the specific biology of these features which is likely to account to clinical variability in patients.

scholarly journals Critical review on role of Microbiota transfer therapy in Autism spectrum disorder

2021 ◽  
Vol 12 (3) ◽  
pp. 2095-2114
Author(s):  
Hemalakshmi R ◽  
Pavithra Amritkumar
Keyword(s):  
Autism Spectrum Disorder ◽  
Gut Microbiota ◽  
Developmental Disorders ◽  
Treatment Options ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Intestinal Microbiome ◽  
The Brain

Autism spectrum disorder (ASD) is a developmental disorder that affects behaviour and communication. It can be diagnosed at any age, although the symptoms generally appear in the first two years of life. Autism is also known as a "spectrum" disorder because there is wide variation in the severity and type of patient experience. Intestinal dysbiosis remains a risk factor for several neuron-developmental disorders and physiological diseases such as ASD. The gut microbiome in human influence the total metabolomic profile and thus has an impact on the overall health of human. The brain-intestinal axis concept demonstrates the interaction between the brain and the diverse gut microbial population. Recent findings show that ASD symptoms in affected individuals are linked with the altered intestinal microbiome. The current treatment modality for the symptoms of ASD are limited to Applied Behaviour Analysis (ABA) and FDA approved medications like Risperidone and Aripiprazole. Individuals with ASD appear to be susceptible to adverse effects of these medications. Current accumulating studies indicate that Microbiota Transfer Therapy (MTT) is a promising technique for treating ASD. MTT involves in vitro batch culture of gut microbiota, which is viewed as a quick and accessible method. It has provided encouraging results by improving ASD-related gastrointestinal (GI) and behavioural symptoms in affected individuals. The present review focuses on the link between gut dysbiosis and ASD, analyses the available clinical studies related to various treatment options and describes the role of MTT as a promising therapy of bringing back the healthy gut microbiota composition in treating ASD.

scholarly journals Beyond a gut feeling: How the immune system impacts the effect of gut microbiota in neurodevelopment

2019 ◽  
Vol 42 ◽  
Author(s):  
Atiqah Azhari ◽  
Farouq Azizan ◽  
Gianluca Esposito
Keyword(s):  
Autism Spectrum Disorder ◽  
Immune System ◽  
Gut Microbiota ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Microbial Dysbiosis ◽  
Inflammatory State ◽  
Gastrointestinal Microbes ◽  
The Brain

Abstract Hooks et al. posit that gastrointestinal microbes alter the end state of development indirectly. Here, we present the immune system as the link that facilitates communication between the gut and the brain. Illustrating the case of autism spectrum disorder, we explicate the role of the immune system in responding to microbial dysbiosis by inducing an inflammatory state that affects neurodevelopment. We propose two models: directly, within the infant, and indirectly, via maternal and infant systems.

scholarly journals Art of Music, as Harmony of the Spheres and Autism Spectrum Disorder

2016 ◽  
Author(s):  
Bharathi Geetha ◽  
Thangaraj Sugunadevi ◽  
Babu Srija ◽  
Nagarajan Laleethambika ◽  
Vellingiri Balachandar
Keyword(s):  
Autism Spectrum Disorder ◽  
Brain Area ◽  
Autism Spectrum ◽  
Brain Network ◽  
Spectrum Disorder ◽  
Motor Speech ◽  
Personalized Care ◽  
Communication Capacity ◽  
The Brain

Music has the innate potential to reach all parts of the brain, stimulates certain brain areas which are not achievable through other modalities. Music Therapy (MT) is being used for more than a century to treat individuals who needs personalized care. MT optimizes motor, speech and language responsibilities of the brain and improves cognitive performance. Pervasive developmentdisorder (PDD) is a multifaceted, neuro developmental disorder and autism spectrum disorder (ASD) comes under PDD, which is defined by deficiencies in three principal spheres: social connection with others, communicative and normal movement skills. The conventional imaging studies illustrate reduced brain area connectivity in people with ASD, involving selected parts of the brain cortex. People with ASD express much interest in musical activities which engages the brain network areas and improves communication and social skills.The main objective of this review is to analyze the potential role of MT in treating the neurological conditions, particularly ASD. Evidence based studies have reported the extensive therapeutic application of music on various part of the brain in a nonverbal child with autism through hearing or making music.Hence we hypothesized that MT intervention can improve the communication capacity in people with ASD, than customary neurorestoration therapy alone.

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 A systematic review and meta-analysis of studies on metaphor comprehension in individuals with autism spectrum disorder: Do task properties matter?

2019 ◽  
Vol 40 (6) ◽  
pp. 1421-1454 ◽  
Author(s):  
Tamar Kalandadze ◽  
Valentina Bambini ◽  
Kari-Anne B. Næss
Keyword(s):  
Systematic Review ◽  
Autism Spectrum Disorder ◽  
Syntactic Structure ◽  
Meta Analysis ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Response Format ◽  
Metaphor Comprehension ◽  
The Relationship

AbstractIndividuals with autism spectrum disorder (ASD) often experience difficulty in comprehending metaphors compared to individuals with typical development (TD). However, there is a large variation in the results across studies, possibly related to the properties of the metaphor tasks. This preregistered systematic review and meta-analysis (a) explored the properties of the metaphor tasks used in ASD research, and (b) investigated the group difference between individuals with ASD and TD on metaphor comprehension, as well as the relationship between the task properties and any between-study variation. A systematic search was undertaken in seven relevant databases. Fourteen studies fulfilled our predetermined inclusion criteria. Across tasks, we detected four types of response format and a great variety of metaphors in terms of familiarity, syntactic structure, and linguistic context. Individuals with TD outperformed individuals with ASD on metaphor comprehension (Hedges’ g = −0.63). Verbal explanation response format was utilized in the study showing the largest effect size in the group comparison. However, due to the sparse experimental manipulations, the role of task properties could not be established. Future studies should consider and report task properties to determine their role in metaphor comprehension, and to inform experimental paradigms as well as educational assessment.

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