scholarly journals Genetics and psychophysiology of ADHD and autism

Author(s):  
Elena I. Nikolaeva ◽  

The paper discusses the brain mechanisms of autism and attention deficit hyperactivity disorder. It is shown that these disorders are associated with different genetic causes that create certain psychophysiological mechanisms. Nevertheless, their diagnosis is interrelated. Moreover, a child is often first diagnosed with ADHD, and then the diagnosis is changed to “autism spectrum disease”. Among the most common causes of the disease is the behavior of retrotransposons. Retrotransposons (also called transposons via intermediate RNA) are genetic elements that can amplify themselves in the genome. These DNA sequences use a “copy and paste” mechanism, whereby they are first transcribed into RNA and then converted back to identical DNA sequences via reverse transcription, and these sequences are then inserted into the genome at target sites. In humans, retro elements take up 42 % of the DNA. The conclusion is made that for the formation of an individual profile of gene expression in the neuron, the most important is the phenomenon of somatic mosaicism, due to the process of L1 retrotransposition, in addition to the classical described mechanisms of differentiation. The number of such events and their localization is significant as they are likely to contribute to the development of both autism and ADHD.

2021 ◽  
Author(s):  
Azadeh Mozhdehfarahbakhsh ◽  
Amirsaeid Moloodi ◽  
Prasun Chakrabarti ◽  
KS Jagannatha Rao ◽  
Babak Kateb ◽  
...  

Background and Objectives: Attention Deficit Hyperactivity Disorder (ADHD) and Autism Spectrum Disorder (ASD) are the two most common neurodevelopmental disorders often with overlapping symptoms. Misdiagnosis of these disorders is the leading cause of a variety of problems including inappropriate interventions and improper treatment outcome. Over the last few years, resting state functional magnetic Resonance imaging (rs-fMRI) has received clinical attention among other beneficial brain scan techniques to extract functional connectivity in the brain. However, extracting useful information by human observation is prone to errors. Material and Methods: The above unmet need prompted us to design the present investigation to construct a convolutional neural network model with 12 layers architecture in rsFMRI data aiming to differentiate the two conditions. The rs-fMRI data was collected from the ADHD-200 and ABIDE to feed into a convolutional neural network. Over the preprocessing phase, we have removed undesirable data and coordinated the remaining to MSDL atlas to recruit 39 regions of the brain. Results: Ultimately, out results obtained a 0.92 accuracy, an AUC of 0.97 and loss of 0.17 in classification and discrimination of ADHD and ASD. Conclusion: Though cross-validity with larger datasets is deemed required, the results obtained from the present investigation suggest that convolutional neural network may serve as a beneficial tool to differentiate ADHD and ASD from relatively small fMRI datasets. This further highlights the potential application of deep neural networks for serving the above purpose.


2020 ◽  
Author(s):  
Marija Burgić Radmanović ◽  
Sanela-Sanja Burgić

Attention Deficit Hyperactivity Disorder with or without hyperactivity disorder is a neurobiological disorder that involves the interaction of the neuroanatomical and neurotransmitter systems. It is a developmental disorder of psychomotor skills that is manifested by impaired attention, motor hyperactivity and impulsivity. This disorder is characterized by early onset, the association of hyperactive and poorly coordinated behavior with marked inattention and lack of perseverance in performing tasks; and this behavior occurs in all situations and persists over time. This disorder is inappropriate for the child’s developmental age and maladaptive. Disorders of neurotransmitter metabolism in the brain with discrete neurological changes can lead to behavioral difficulties and other psychological problems. Most children and adolescents with Attention Deficit Hyperactivity Disorder have comorbidities, often multiple comorbid conditions in the same person. Comorbidity was observed in both clinical and epidemiological samples. It is estimated that about two-thirds of children with this disorder have at least one other psychiatric disorder diagnosed. Symptoms persist and lead to significant difficulties in the daily functioning of the child, such as school success, social interactions, family and social functioning, etc. Recent studies indicate the presence of various neuroophthalmological disorders in children and adolescents with ADHD. The most common comorbidities in children and adolescents with ADHD that will be covered in this chapter are autism spectrum disorder, mood disorder, anxiety, learning disabilities, conduct disorders, tics disorder and epilepsy.


Author(s):  
Karen Bearss ◽  
Aaron J. Kaat

This chapter will review the available evidence on individuals with co-occurring diagnoses of autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD). This chapter contends that children diagnosed with both disorders (ASD+ADHD) are a subset of the ASD population that is at risk for delayed recognition of their ASD diagnosis, poor treatment response, and poorer functional outcomes compared to those with ASD without ADHD. Specifically, the chapter highlights the best estimates of the prevalence of the comorbidity, the developmental trajectory of people with co-occurring ASD and ADHD, how ADHD symptoms change across development, overlapping genetic and neurobiological risk factors, psychometrics of ADHD diagnostic instruments in an ASD population, neuropsychological and functional impairments associated with co-occurring ASD and ADHD, and the current state of evidence-based treatment for both ASD and ADHD symptoms. Finally, the chapter discusses fruitful avenues of research for improving understanding of this high-risk comorbidity so that mechanism-to-treatment pathways for ADHD in children with ASD can be better developed.


2020 ◽  
Vol 12 (1) ◽  
Author(s):  
Viktoria Johansson ◽  
Sven Sandin ◽  
Zheng Chang ◽  
Mark J. Taylor ◽  
Paul Lichtenstein ◽  
...  

Abstract Background Clinical studies found that medication for attention-deficit/hyperactivity disorder (ADHD) is effective in coexisting autism spectrum disorder (ASD), but current research is based on small clinical studies mainly performed on children or adolescents. We here use register data to examine if individuals with ADHD and coexisting ASD present differences in the prescribing patterns of ADHD medication when compared to individuals with pure ADHD. Methods Data with information on filled prescriptions and diagnoses was retrieved from the Swedish Prescribed Drug Register and the National Patient Register. We identified 34,374 individuals with pure ADHD and 5012 individuals with ADHD and coexisting ASD, aged between 3 and 80 years. The first treatment episode with ADHD medications (≥ 2 filled prescriptions within 90 days) and daily doses of methylphenidate during a 3-year period was measured. Odds ratios (ORs) were calculated for the likelihood of being prescribed ADHD medication in individuals with and without ASD and Wilcoxon rank-sum test was used to compare group differences in dose per day. Results Individuals with ADHD and coexisting ASD were less likely to start continuous treatment with ADHD medication (ADHD 80.5%; ADHD with ASD 76.2%; OR, 0.80; 95% confidence interval, 0.75-0.86), were less likely to be prescribed methylphenidate, and were more commonly prescribed second line treatments such as dexamphetamine, amphetamine, or modafinil. No group difference was observed for atomoxetine. In adults with ADHD and coexisting ASD, methylphenidate was prescribed in lower daily doses over three years as compared to individuals with pure ADHD. Conclusions The findings indicate that there are differences in the medical treatment of individuals with or without ASD. If these differences are due to different medication responses in ASD or due to other factors such as clinicians’ perceptions of medication effects in patients with ASD, needs to be further studied.


2021 ◽  
Vol 7 (11) ◽  
pp. eaba1187
Author(s):  
Rina Baba ◽  
Satoru Matsuda ◽  
Yuuichi Arakawa ◽  
Ryuji Yamada ◽  
Noriko Suzuki ◽  
...  

Persistent epigenetic dysregulation may underlie the pathophysiology of neurodevelopmental disorders, such as autism spectrum disorder (ASD). Here, we show that the inhibition of lysine-specific demethylase 1 (LSD1) enzyme activity normalizes aberrant epigenetic control of gene expression in neurodevelopmental disorders. Maternal exposure to valproate or poly I:C caused sustained dysregulation of gene expression in the brain and ASD-like social and cognitive deficits after birth in rodents. Unexpectedly, a specific inhibitor of LSD1 enzyme activity, 5-((1R,2R)-2-((cyclopropylmethyl)amino)cyclopropyl)-N-(tetrahydro-2H-pyran-4-yl)thiophene-3-carboxamide hydrochloride (TAK-418), almost completely normalized the dysregulated gene expression in the brain and ameliorated some ASD-like behaviors in these models. The genes modulated by TAK-418 were almost completely different across the models and their ages. These results suggest that LSD1 enzyme activity may stabilize the aberrant epigenetic machinery in neurodevelopmental disorders, and the inhibition of LSD1 enzyme activity may be the master key to recover gene expression homeostasis. TAK-418 may benefit patients with neurodevelopmental disorders.


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