Attention deficit hyperactivity disorder analyzed with array comparative genome hybridization method. Case report

2014 ◽  
Vol 155 (40) ◽  
pp. 1598-1601
Author(s):  
Balázs Duga ◽  
Márta Czakó ◽  
Katalin Komlósi ◽  
Kinga Hadzsiev ◽  
Katalin Sümegi ◽  
...  
Keyword(s):  
Attention Deficit Hyperactivity Disorder ◽  
Attention Deficit ◽  
Wide Spectrum ◽  
Copy Number Variations ◽  
Comparative Genomic ◽  
Comparative Genome Hybridization ◽  
Hybridization Method ◽  
Comparative Genome ◽  
Hyperactivity Disorder ◽  
Array Comparative Genome Hybridization

One of the most common psychiatric disorders during childhood is attention deficit hyperactivity disorder, which affects 5-6% of children worldwide. Symptoms include attention deficit, hyperactivity, forgetfulness and weak impulse control. The exact mechanism behind the development of the disease is unknown. However, current data suggest that a strong genetic background is responsible, which explains the frequent occurrence within a family. Literature data show that copy number variations are very common in patients with attention deficit hyperactivity disorder. The authors present a patient with attention deficit hyperactivity disorder who proved to have two approximately 400 kb heterozygous microduplications at 6p25.2 and 15q13.3 chromosomal regions detected by comparative genomic hybridization methods. Both duplications affect genes (6p25.2: SLC22A23; 15q13.3: CHRNA7) which may play a role in the development of attention deficit hyperactivity disorder. This case serves as an example of the wide spectrum of indication of the array comparative genome hybridization method. Orv. Hetil., 2014, 155(40), 1598–1601.

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.

scholarly journals Cytogenomic characterization of a de novo 4q34.1 deletion in a girl with mild dysmorphic features and a coagulation disorder

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Juan Pablo Meza-Espinoza ◽  
José Alfredo Contreras-Gutiérrez ◽  
Eliakym Arámbula-Meraz ◽  
Juan Ramón González-García ◽  
Ma. Guadalupe Domínguez-Quezada ◽  
...  
Keyword(s):  
Attention Deficit Hyperactivity Disorder ◽  
Female Patient ◽  
Attention Deficit ◽  
De Novo ◽  
Deletion Syndrome ◽  
Comparative Genomic ◽  
Coagulation Disorder ◽  
Clinical Effects ◽  
Hyperactivity Disorder ◽  
Dysmorphic Features

Abstract Background 4q deletion syndrome is a rare chromosomal disorder that mostly arises de novo. The syndrome is characterized by craniofacial dysmorphism, digital abnormalities, skeletal alterations, heart malformations, developmental delay, growth retardation, Pierre Robin sequence, autistic spectrum and attention deficit-hyperactivity disorder, although not every patient shows the same features. Array comparative genomic hybridization (aCGH) use improves the detection of tiny chromosomal deletions and allows for a better understanding of genotype–phenotype correlations in affected patients. We report the case of a 6-year-old female patient showing mild dysmorphic features, mild mental disabilities and a coagulation disorder as a consequence of a de novo del(4)(q34.1) characterized by aCGH. Case presentation A 6-year-old female patient exhibited special craniofacial features, such as backward-rotated ears, upslanted palpebral fissures, broad nasal bridges, anteverted nares, broad nasal alae, smooth philtrums, smooth nasolabial folds, thin lips, horizontal labial commissures, and retrognathia. In the oral cavity, maxillary deformation, a high arched palate, agenesis of both mandibular canines and fusion of two mandibular incisors were observed. She also displayed bilateral implantation of the proximal thumbs, widely spaced nipples, dorsal kyphosis, hyperlordosis, and clitoral hypertrophy. In addition, the patient presented with coagulopathy, psychomotor delay, attention deficit-hyperactivity disorder, and mild mental disability. A chromosomal study showed the karyotype 46,XX,del(4)(q34.1), while an aCGH analysis revealed an 18.9 Mb deletion of a chromosome 4q subtelomeric region spanning 93 known genes. Conclusion The clinical manifestations of this patient were similar to those reported in other individuals with 4q deletion syndrome. Although most of the patients with a 4q34 terminal deletion share similarities, variations in phenotype are also common. In general, clinical effects of chromosomal deletion syndromes depend on the length of the deleted chromosomal segment and, consequently, on the number of lost genes; however, in all of these syndromes, there is no simple correlation between the phenotype and the chromosomal region involved, particularly in cases of 4q deletion.

Identifying rare genomic disorders with array comparative genomic hybridization in Hungary

2014 ◽  
Vol 155 (9) ◽  
pp. 358-361 ◽  
Author(s):  
Balázs Duga ◽  
Márta Czakó ◽  
Kinga Hadzsiev ◽  
Katalin Komlósi ◽  
Katalin Sümegi ◽  
...  
Keyword(s):  
Developmental Disorders ◽  
De Novo ◽  
Genomic Variation ◽  
Diagnostic Methods ◽  
Genomic Alteration ◽  
Comparative Genomic ◽  
Comparative Genome Hybridization ◽  
Comparative Genome ◽  
Array Comparative Genome Hybridization ◽  
Genomic Disorders

Introduction: In the past decade the study of genomic disorders has received more interest. Array comparative genome hybridization is a widely spread diagnostic method in the research of genomic disorders. This method was implemented in the laboratory of the authors in 2012. Aim: This molecular cytogenetic method was first used to examine patients with complex developmental disorders in whom no genetic background was identified by traditional methods. Method: The authors complemented traditional diagnostic methods with array comparative genome hybridization, which has not been used in routine diagnostics in Hungary so far. Results: Using this novel method the authors were able to identify genomic alterations in 7 out of 18 patients with complex developmental disorders. They found de novo alterations in 6 out of 7 patients, which were most likely causative in the development of the phenotype, while in one case they detected a familial genomic alteration. This method helped the authors to determine the breakpoint of genomic variation in their patients and delineate the affected genes contributing to the phenotype. Conclusions: These results call attention to the usefulness of next generation diagnostic methods available in the laboratory of the authors. Orv. Hetil., 2014, 155(9), 358–361.

Assessment of Attention-Deficit/Hyperactivity Disorder: An Evaluation of Six Published Rating Scales

2003 ◽  
Vol 32 (2) ◽  
pp. 241-262 ◽  
Author(s):  
Lisa Marie Angello ◽  
Robert J. Volpe ◽  
James C. DiPerna ◽  
Sammi P. Gureasko-Moore ◽  
David P. Gureasko-Moore ◽  
...  
Keyword(s):  
Attention Deficit Hyperactivity Disorder ◽  
Attention Deficit ◽  
Rating Scales ◽  
Hyperactivity Disorder
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