scholarly journals Role of Copy Number Variations in ADHD

2020 ◽  
Author(s):  
Danijela Krgović
Keyword(s):  
Autism Spectrum Disorder ◽  
Attention Deficit ◽  
Neurodevelopmental Disorders ◽  
Copy Number ◽  
Autism Spectrum ◽  
Copy Number Variations ◽  
Spectrum Disorder ◽  
Genetic Diagnostics ◽  
Healthy Controls

Copy number variations (CNV) have an important role in etiology of neurodevelopmental disorders (NDD). Among them, individuals with attention-deficit and hyperactivity disorders (ADHD) have 1.33 times higher overall rate of CNVs larger than 100 kb compared to healthy controls. These CNVs are often shared with other NDDs and neuropsychiatric disorders such as schizophrenia (SCZ) and autism spectrum disorder (ASD), although duplications of 15q13.3 and 16p13.11 have been found enriched in ADHD cohorts. CNVs provide new opportunities for studying and management of psychiatric disorders including ADHD. Therefore this chapter provides a brief overview of the literature on this topic and presents the benefits of CNV genetic diagnostics in ADHD patients.

scholarly journals Rare Copy Number Variations in a Chinese Cohort of Autism Spectrum Disorder

2018 ◽  
Vol 9 ◽  
Author(s):  
Yanjie Fan ◽  
Xiujuan Du ◽  
Xin Liu ◽  
Lili Wang ◽  
Fei Li ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Copy Number ◽  
Autism Spectrum ◽  
Copy Number Variations ◽  
Spectrum Disorder ◽  
Chinese Cohort

scholarly journals Attention-deficit hyperactivity disorder shares copy number variant risk with schizophrenia and autism spectrum disorder

2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Olafur O. Gudmundsson ◽  
G. Bragi Walters ◽  
Andres Ingason ◽  
Stefan Johansson ◽  
Tetyana Zayats ◽  
...  
Keyword(s):  
Attention Deficit Hyperactivity Disorder ◽  
Attention Deficit ◽  
Neurodevelopmental Disorders ◽  
Copy Number ◽  
Neurodevelopmental Disorder ◽  
Copy Number Variant ◽  
Pleiotropic Effect ◽  
Autism Spectrum ◽  
Copy Number Variations ◽  
Hyperactivity Disorder

Abstract Attention-deficit/hyperactivity disorder (ADHD) is a highly heritable common childhood-onset neurodevelopmental disorder. Some rare copy number variations (CNVs) affect multiple neurodevelopmental disorders such as intellectual disability, autism spectrum disorders (ASD), schizophrenia and ADHD. The aim of this study is to determine to what extent ADHD shares high risk CNV alleles with schizophrenia and ASD. We compiled 19 neuropsychiatric CNVs and test 14, with sufficient power, for association with ADHD in Icelandic and Norwegian samples. Eight associate with ADHD; deletions at 2p16.3 (NRXN1), 15q11.2, 15q13.3 (BP4 & BP4.5–BP5) and 22q11.21, and duplications at 1q21.1 distal, 16p11.2 proximal, 16p13.11 and 22q11.21. Six of the CNVs have not been associated with ADHD before. As a group, the 19 CNVs associate with ADHD (OR = 2.43, P = 1.6 × 10−21), even when comorbid ASD and schizophrenia are excluded from the sample. These results highlight the pleiotropic effect of the neuropsychiatric CNVs and add evidence for ADHD, ASD and schizophrenia being related neurodevelopmental disorders rather than distinct entities.

Sleep quality among adults with attention deficit hyperactivity disorder or autism spectrum disorder: which is the role of gender and chronotype?

2020 ◽  
Vol 76 ◽  
pp. 128-133
Author(s):  
Giovanni Migliarese ◽  
Sara Torriero ◽  
Camilla Gesi ◽  
Viviana Venturi ◽  
Yacob Reibman ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Attention Deficit Hyperactivity Disorder ◽  
Sleep Quality ◽  
Attention Deficit ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Hyperactivity Disorder

scholarly journals Disorder-specific grey matter deficits in attention deficit hyperactivity disorder relative to autism spectrum disorder

2014 ◽  
Vol 45 (5) ◽  
pp. 965-976 ◽  
Author(s):  
L. Lim ◽  
K. Chantiluke ◽  
A. I. Cubillo ◽  
A. B. Smith ◽  
A. Simmons ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Attention Deficit Hyperactivity Disorder ◽  
Attention Deficit ◽  
Grey Matter ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Healthy Controls ◽  
Childhood Disorders ◽  
Male Adolescents ◽  
Hyperactivity Disorder

Background.Attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) are two common childhood disorders that exhibit genetic and behavioural overlap and have abnormalities in similar brain systems, in particular in frontal and cerebellar regions. This study compared the two neurodevelopmental disorders to investigate shared and disorder-specific structural brain abnormalities.Method.Forty-four predominantly medication-naïve male adolescents with ADHD, 19 medication-naïve male adolescents with ASD and 33 age-matched healthy male controls were scanned using high-resolution T1-weighted volumetric imaging in a 3-T magnetic resonance imaging (MRI) scanner. Voxel-based morphometry (VBM) was used to test for group-level differences in structural grey matter (GM) and white matter (WM) volumes.Results.There was a significant group difference in the GM of the right posterior cerebellum and left middle/superior temporal gyrus (MTG/STG). Post-hoc analyses revealed that this was due to ADHD boys having a significantly smaller right posterior cerebellar GM volume compared to healthy controls and ASD boys, who did not differ from each other. ASD boys had a larger left MTG/STG GM volume relative to healthy controls and at a more lenient threshold relative to ADHD boys.Conclusions.The study shows for the first time that the GM reduction in the cerebellum in ADHD is disorder specific relative to ASD whereas GM enlargement in the MTG/STG in ASD may be disorder specific relative to ADHD. This study is a first step towards elucidating disorder-specific structural biomarkers for these two related childhood disorders.

scholarly journals A Discovery Resource of Rare Copy Number Variations in Individuals with Autism Spectrum Disorder

2012 ◽  
Vol 2 (12) ◽  
pp. 1665-1685 ◽  
Author(s):  
Aparna Prasad ◽  
Daniele Merico ◽  
Bhooma Thiruvahindrapuram ◽  
John Wei ◽  
Anath C. Lionel ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Copy Number ◽  
Autism Spectrum ◽  
Copy Number Variations ◽  
Spectrum Disorder

scholarly journals Detection of small copy number variations (CNVs) in autism spectrum disorder (ASD) by custom array comparative genomic hybridization (aCGH)

2016 ◽  
Vol 23 ◽  
pp. 145-151 ◽  
Author(s):  
Eloisa S. Moreira ◽  
Isabela M.W. Silva ◽  
Naila Lourenço ◽  
Danielle P. Moreira ◽  
Cintia M. Ribeiro ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Comparative Genomic Hybridization ◽  
Copy Number ◽  
Array Comparative Genomic Hybridization ◽  
Autism Spectrum ◽  
Copy Number Variations ◽  
Spectrum Disorder ◽  
Comparative Genomic ◽  
Genomic Hybridization

scholarly journals Neuro-Behavioral Phenotype in 16p11.2 Duplication: A Case Series

Children ◽  
2020 ◽  
Vol 7 (10) ◽  
pp. 190
Author(s):  
Annio Posar ◽  
Paola Visconti
Keyword(s):  
Autism Spectrum Disorder ◽  
Neurodevelopmental Disorders ◽  
Case Series ◽  
Autism Spectrum ◽  
Copy Number Variations ◽  
Behavioral Phenotype ◽  
Spectrum Disorder ◽  
Learning Disorder ◽  
Additional Risk ◽  
Wide Variability

Duplications of chromosome 16p11.2, even though rare in the general population, are one of the most frequent known genetic causes of autism spectrum disorder and of other neurodevelopmental disorders. However, data about the neuro-behavioral phenotype of these patients are few. We described a sample of children with duplication of chromosome 16p11.2 focusing on the neuro-behavioral phenotype. The five patients reported presented with very heterogeneous conditions as for characteristics and severity, ranging from a learning disorder in a child with normal intelligence quotient to an autism spectrum disorder associated with an intellectual disability. Our case report underlines the wide heterogeneity of the neuropsychiatric phenotypes associated with a duplication of chromosome 16p11.2. Similarly to other copy number variations that are considered pathogenic, the wide variability of phenotype of chromosome 16p11.2 duplication is probably related to additional risk factors, both genetic and not genetic, often difficult to identify and most likely different from case to case.

scholarly journals Biological Understanding of Neurodevelopmental Disorders Based on Epigenetics, a New Genetic Concept in Education

2021 ◽  
Author(s):  
Takeo Kubota
Keyword(s):  
Gene Expression ◽  
Autism Spectrum Disorder ◽  
Environmental Factors ◽  
Attention Deficit ◽  
Neurodevelopmental Disorders ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Chemical Modifications ◽  
Attention Deficit Hyperactive Disorder ◽  
Modifications In The Brain

Neurodevelopmental disorders, such as autism spectrum disorder, attention deficit hyperactive disorder, and learning disabilities, are heterogeneous conditions that are thought to have a multifactorial etiology including congenital genetic abnormalities and acquired environmental factors. Epigenetics is a biological mechanism that controls gene expression based on chemical modifications of DNA and chromosomal histone proteins. Environmental factors, such as severe mental stress, have been demonstrated to alter gene expression by changing epigenetic chemical modifications in the brain. Therefore, epigenetics is not only involved in congenital autism spectrum disorder-like conditions (e.g., Prader-Willi syndrome and Rett syndrome) but may also be involved in acquired attention deficit hyperactive disorder-like conditions (e.g., via child abuse and neglect). In this chapter, we introduce the basis of the epigenetic mechanism and the recent biological understanding of neurodevelopmental disorders based on epigenetics, which is a new genetic concept not only in medicine but also in education, which bridges internal brain mechanisms and external environmental factors.

A Genome Wide Copy Number Variations Analysis in Autism Spectrum Disorder (Asd) and Intellectual Disability (Id) in Italian Families

2016 ◽  
Vol 7 (5) ◽  
Author(s):  
Mucciolo Mafalda ◽  
Chiara Di Marco ◽  
Roberto Canitano ◽  
Sabrina Buoni ◽  
Elisa Frullanti ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Intellectual Disability ◽  
Copy Number ◽  
Autism Spectrum ◽  
Copy Number Variations ◽  
Spectrum Disorder ◽  
Genome Wide ◽  
A Genome
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