Psychiatric disorders in children with 16p11.2 deletion and duplication.

07:00 EST 16th January 2019 | BioPortfolio

Summary of "Psychiatric disorders in children with 16p11.2 deletion and duplication."

Deletion and duplication of 16p11.2 (BP4-BP5) have been associated with an increased risk of intellectual disability and psychiatric disorder. This is the first study to compare the frequency of a broad spectrum of psychiatric disorders in children with 16p11.2 deletion and duplication. We aimed to evaluate (1) the nature and prevalence of psychopathology associated with copy number variation (CNV) in children with 16p11.2 by comparing deletion and duplication carriers with family controls; (2) whether deletion and duplication carriers differ in frequency of psychopathology. 217 deletion carriers, 77 deletion family controls, 114 duplication carriers, and 32 duplication family controls participated in the study. Measures included standardized research diagnostic instruments. Deletion carriers had a higher frequency of any psychiatric disorder (OR = 8.9, p < 0.001), attention deficit hyperactivity disorder (ADHD) (OR = 4.0, p = 0.01), and autism spectrum disorder (ASD) (OR = 39.9, p = 0.01) than controls. Duplication carriers had a higher frequency of any psychiatric diagnosis (OR = 5.3, p = 0.01) and ADHD (OR = 7.0, p = 0.02) than controls. The prevalence of ASD in child carriers of deletions and duplications was similar (22% versus 26%). Comparison of the two CNV groups indicated a higher frequency of ADHD in children with the duplication than deletion (OR = 2.7, p = 0.04) as well as a higher frequency of overall psychiatric disorders (OR = 2.8, p = 0.02) and psychotic symptoms (OR = 4.7, p = 0.02). However, no differences between deletion and duplications carriers in the prevalence of ASD were found. Both deletion and duplication are associated with an increased risk of psychiatric disorder, supporting the importance of early recognition, diagnosis, and intervention in these groups.


Journal Details

This article was published in the following journal.

Name: Translational psychiatry
ISSN: 2158-3188
Pages: 8


DeepDyve research library

PubMed Articles [13566 Associated PubMed Articles listed on BioPortfolio]

Psychiatric disorders and autism in young children with 22q11.2 deletion syndrome compared to children with idiopathic autism.

The 22q11.2 deletion syndrome (22q11DS) is a neurogenetic condition characterized by high rates of psychiatric disorders. To our knowledge, this is the first study to assess psychiatric disorders in y...

Gender and psychiatric disorders in children with epilepsy. A meta-analysis.

The objective of the study was to assess the influence of gender on psychiatric disorders in children with epilepsy (CWE).

The mediating role of parental satisfaction between marital satisfaction and perceived family burden among parents of children with psychiatric disorders.

Parents of children and adolescents with psychiatric disorders may experience perceived family burden. Although previous research has extensively addressed the contribution of clinical factors to perc...

Psychiatric Disorders and Crime in the US Population: Results From the National Epidemiologic Survey on Alcohol and Related Conditions Wave III.

Current knowledge regarding the intersection of psychiatric disorders and crime in the United States is limited to psychiatric, forensic, and youth samples. This study presents nationally representati...

Common Polygenic Variations for Psychiatric Disorders and Cognition in Relation to Brain Morphology in the General Pediatric Population.

To examine the relationship between polygenic scores (PGS) for five major psychiatric disorders and two cognitive traits with brain MRI morphological measurements in a large population-based sample of...

Clinical Trials [9711 Associated Clinical Trials listed on BioPortfolio]

Genetics and Psychopathology in the 22q11 Deletion Syndrome

The purposes of this study are to: 1. study the nature and longitudinal course of psychiatric symptoms in children with the 22q11.2 deletion syndrome and 2. identify genes...

Psychiatric Disorders in Children With Psychogenic Cough

The study aims to evaluate psychiatric disorders and clinical features of children with psychogenic cough. Psychiatric disorders are assessed via a semi-structured interview (Kiddie Schedu...

Non-Invasive Chromosomal Evaluation of 22q11.2

This study is being conducted to develop and evaluate a cell-free fetal DNA test (Ariosa Test) for non-invasive prenatal detection of 22q11.2 chromosomal deletion or duplication.

Executive Function Disorders and Anxio-depressive Symptomatology in Children and Adolescents With Mitochondrial Pathologies

The major steps forward of the neurosciences in recent years have linked psychiatric diseases, neuropsychological symptoms and brain dysfunctions. The cerebral functioning requiring a big ...

A Multicenter, Open-label, Pilot Study of TAK-935 (OV935) in Participants With 15Q Duplication Syndrome or CDKL5 Deficiency Disorder

The purpose of this study is to investigate the effect of TAK-935 (OV935) on the frequency of motor seizures for participants with 15q duplication syndrome or CDKL5 deficiency disorder thr...

Medical and Biotech [MESH] Definitions

Disorders of verbal and nonverbal communication caused by receptive or expressive LANGUAGE DISORDERS, cognitive dysfunction (e.g., MENTAL RETARDATION), psychiatric conditions, and HEARING DISORDERS.

The biologic treatment of mental disorders (e.g., ELECTROCONVULSIVE THERAPY), in contrast with psychotherapy. (Stone, American Psychiatric Glossary, 1988, p159)

A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus.

Processes occurring in various organisms by which new genes arise, i.e. the duplication of a single gene. In contiguous gene duplication, the duplicated sequence coexists within the boundaries set by the start and stop signals for protein synthesis of the original, resulting in a larger transcription product and protein at the expense of the preexisting protein. In discrete gene duplication, the duplicated sequence is outside the start and stop signals, resulting in two independent genes (GENES, DUPLICATE) and gene products. Gene duplication may result in a MULTIGENE FAMILY; supergenes or PSEUDOGENES. (Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed)

Conditions characterized by disturbances of usual sleep patterns or behaviors. Sleep disorders may be divided into three major categories: DYSSOMNIAS (i.e. disorders characterized by insomnia or hypersomnia), PARASOMNIAS (abnormal sleep behaviors), and sleep disorders secondary to medical or psychiatric disorders. (From Thorpy, Sleep Disorders Medicine, 1994, p187)

Quick Search


DeepDyve research library

Relevant Topics

Psychiatry is the study of mental disorders and their diagnosis, management and prevention.  Conditions include schizophrenia, severe depression and panic disorders among others. There are pharmaceutical treatments as well as other therapies to help...

Pediatrics is the general medicine of childhood. Because of the developmental processes (psychological and physical) of childhood, the involvement of parents, and the social management of conditions at home and at school, pediatrics is a specialty. With ...

Searches Linking to this Article