scholarly journals Sequencing of sporadic Attention-Deficit Hyperactivity Disorder (ADHD) identifies novel and potentially pathogenic de novo variants and excludes overlap with genes associated with autism spectrum disorder

2017 ◽  
Vol 174 (4) ◽  
pp. 381-389 ◽  
Author(s):  
Daniel Seung Kim ◽  
Amber A. Burt ◽  
Jane E. Ranchalis ◽  
Beth Wilmot ◽  
Joshua D. Smith ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Attention Deficit Hyperactivity Disorder ◽  
Attention Deficit ◽  
De Novo ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Hyperactivity Disorder

scholarly journals Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

2020 ◽  
Author(s):  
Holly K. Harris ◽  
Tojo Nakayama ◽  
Jenny Lai ◽  
Boxun Zhao ◽  
Nikoleta Argyrou ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Attention Deficit Hyperactivity Disorder ◽  
Transcription Factors ◽  
Intellectual Disability ◽  
Attention Deficit ◽  
De Novo ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Risk Genes ◽  
Hyperactivity Disorder

Purpose: We describe a novel neurobehavioral syndrome of autism spectrum disorder, intellectual disability, and attention deficit/hyperactivity disorder associated with de novo or inherited deleterious variants in members of the RFX family of genes. RFX genes are evolutionarily conserved transcription factors that act as master regulators of central nervous system development and ciliogenesis. Methods: We assembled a cohort of 36 individuals (from 31 unrelated families) with de novo mutations in RFX3, RFX4, and RFX7. We describe their common clinical phenotypes and present bioinformatic analyses of expression patterns and downstream targets of these genes as they relate to other neurodevelopmental risk genes. Results: These individuals share neurobehavioral features including autism spectrum disorder (ASD), intellectual disability, and attention-deficit/hyperactivity disorder (ADHD); other frequent features include hypersensitivity to sensory stimuli and sleep problems. RFX3, RFX4, and RFX7 are strongly expressed in developing and adult human brain, and X-box binding motifs as well as RFX ChIP-seq peaks are enriched in the cis-regulatory regions of known ASD risk genes. Conclusion: These results establish deleterious variation in RFX3, RFX4, and RFX7 as important causes of monogenic intellectual disability, ADHD and ASD, and position these genes as potentially critical transcriptional regulators of neurobiological pathways associated with neurodevelopmental disease pathogenesis.

Attention Deficit Hyperactivity Disorder in Autism Spectrum Disorder

2020 ◽  
pp. 158-176
Author(s):  
Karen Bearss ◽  
Aaron J. Kaat
Keyword(s):  
Autism Spectrum Disorder ◽  
Attention Deficit Hyperactivity Disorder ◽  
Attention Deficit ◽  
Autism Spectrum ◽  
Developmental Trajectory ◽  
Spectrum Disorder ◽  
Adhd Symptoms ◽  
Functional Impairments ◽  
Hyperactivity Disorder ◽  
Delayed Recognition

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.

scholarly journals Medications for attention-deficit/hyperactivity disorder in individuals with or without coexisting autism spectrum disorder: analysis of data from the Swedish prescribed drug register

2020 ◽  
Vol 12 (1) ◽  
Author(s):  
Viktoria Johansson ◽  
Sven Sandin ◽  
Zheng Chang ◽  
Mark J. Taylor ◽  
Paul Lichtenstein ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Attention Deficit Hyperactivity Disorder ◽  
Attention Deficit ◽  
Clinical Studies ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Prescribing Patterns ◽  
Adhd Medication ◽  
Hyperactivity Disorder ◽  
Drug Register

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.

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