Clinical Relevance of Methylenetetrahydrofolate Reductase Genetic Testing in Autism: A Case Report of Successful Clinical Outcome

Fadila,; Suman, Praveen; Kumar, Praveen; Omair, Faraz

doi:10.7759/cureus.12586

Cited by 3 publications

(2 citation statements)

References 8 publications

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“…A case report study conducted by Fadila et al showed the effect of a three-month folic acid supplementation in a two-year-old child with a heterozygous MTHFR genetic polymorphism. The results revealed an enhancement in speech and general behavior [ 60 ]. Moreover, Gowda et al evaluated the impact of betaine, pyridoxine, folic acid, and vitamin B12 supplementation on the lowering of total homocysteine concentrations.…”

Section: Discussionmentioning

confidence: 99%

Folate–Methionine Cycle Disruptions in ASD Patients and Possible Interventions: A Systematic Review

Rouphael

Bitar

Sacre

et al. 2023

Genes

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Autism Spectrum Disorder (ASD) has become a major public health concern due to its rapidly rising incidence over the past few years. Disturbances in folate or methionine metabolism have been identified in many individuals with ASD, suggesting that the folate–methionine cycle may play an essential role in the pathogenesis of autism. Thus, changes in metabolite concentrations associated with this cycle could be used as potential biomarkers and therapeutic targets for ASD. The aim of this systematic review is to elucidate the perturbations of this cycle and the possible interventions that may be proposed in this context. Several studies have shown that high levels of homocysteine and low levels of vitamins B12 and folate are associated with ASD. These changes in serum metabolites are influenced by poor diet. In fact, children with ASD tend to eat selectively, which could compromise the quality of their diet and result in nutrient deficiencies. Moreover, these disturbances may also be caused by genetic predispositions such as polymorphisms of the MTHFR gene. Few studies have demonstrated the beneficial effects of the use of nutritional supplements in treating ASD children. Therefore, larger, well-structured studies are recommended to examine the impact of vitamin B12 and folate supplementation on homocysteine levels.

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Section: Discussionmentioning

confidence: 99%

Folate–Methionine Cycle Disruptions in ASD Patients and Possible Interventions: A Systematic Review

Rouphael

Bitar

Sacre

et al. 2023

Genes

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“…Additionally, genetics plays a significant role in autism, as evidenced by the ASD occurrence rate among twins, which ranges from 36% to 95%. These genetic factors particularly influence the repetitive behavioral aspects associated with ASD [6][7][8].…”

Section: Introductionmentioning

confidence: 99%

Multimodal Physiotherapy Approach for Autism With Speech Impairment and Attention Deficit: A Case Report

Kolhe,

Sharath,

Thakre

et al. 2023

Cureus

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Autism is a disorder distinguished by significant challenges in social interaction and communication coupled with repetitive and stereotypical patterns of behavior and activities. Deficits in social interaction and language development become apparent before age three. In children, this condition is referred to as autism spectrum disorder (ASD). Attention Deficit Hyperactivity Disorder (ADHD) is a neurodevelopmental disorder characterized by persistent patterns of inattention, hyperactivity, and impulsivity. Individuals with ADHD may struggle with sustaining attention, organizing tasks, and completing assignments. They may exhibit hyperactive behaviors such as fidgeting, difficulty staying seated, and impulsive actions like interrupting others. ADHD can significantly impact daily functioning and is often diagnosed in childhood, with symptoms potentially persisting into adulthood. The disorder has three main subtypes: predominantly inattentive, predominantly hyperactive-impulsive, and combined presentation. Treatment typically involves a combination of behavioral interventions, psychoeducation, and, in some cases, medication, aiming to provide support and strategies for individuals to manage their symptoms effectively in various aspects of life. Cognitive impairment in ASD varies, meaning it could be at the sensory perception level of cognitive processing, learning, and memory. The goal of the training intervention was to control physiological arousal, enhance awareness, keep annoyance from getting worse, and encourage self-regulation abilities. In this case report, we discuss the approach of multimodal physiotherapy for autism with speech impairment and attention deficit. Furthermore, physiotherapy needs to find a position in the new mental health care paradigm in order to contribute to mental health care.

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Genetics and Epigenetics of One-Carbon Metabolism Pathway in Autism Spectrum Disorder: A Sex-Specific Brain Epigenome?

Tisato

Silva

Longo

et al. 2021

Genes

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Autism spectrum disorder (ASD) is a complex neurodevelopmental condition affecting behavior and communication, presenting with extremely different clinical phenotypes and features. ASD etiology is composite and multifaceted with several causes and risk factors responsible for different individual disease pathophysiological processes and clinical phenotypes. From a genetic and epigenetic side, several candidate genes have been reported as potentially linked to ASD, which can be detected in about 10–25% of patients. Folate gene polymorphisms have been previously associated with other psychiatric and neurodegenerative diseases, mainly focused on gene variants in the DHFR gene (5q14.1; rs70991108, 19bp ins/del), MTHFR gene (1p36.22; rs1801133, C677T and rs1801131, A1298C), and CBS gene (21q22.3; rs876657421, 844ins68). Of note, their roles have been scarcely investigated from a sex/gender viewpoint, though ASD is characterized by a strong sex gap in onset-risk and progression. The aim of the present review is to point out the molecular mechanisms related to intracellular folate recycling affecting in turn remethylation and transsulfuration pathways having potential effects on ASD. Brain epigenome during fetal life necessarily reflects the sex-dependent different imprint of the genome-environment interactions which effects are difficult to decrypt. We here will focus on the DHFR, MTHFR and CBS gene-triad by dissecting their roles in a sex-oriented view, primarily to bring new perspectives in ASD epigenetics.

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Clinical Relevance of Methylenetetrahydrofolate Reductase Genetic Testing in Autism: A Case Report of Successful Clinical Outcome

Cited by 3 publications

References 8 publications

Folate–Methionine Cycle Disruptions in ASD Patients and Possible Interventions: A Systematic Review

Folate–Methionine Cycle Disruptions in ASD Patients and Possible Interventions: A Systematic Review

Multimodal Physiotherapy Approach for Autism With Speech Impairment and Attention Deficit: A Case Report

Genetics and Epigenetics of One-Carbon Metabolism Pathway in Autism Spectrum Disorder: A Sex-Specific Brain Epigenome?

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