Abstract:
IMPORTANCE:The 16p11.2 BP4-BP5 duplication is the copy number variant most frequently associated with autism spectrum disorder (ASD), schizophrenia, and comorbidities such as decreased body mass index (BMI). OBJECTIVES:To characterize the effects of the 16p11.2 duplication on cognitive, behavioral, medical, and anthropometric traits and to understand the specificity of these effects by systematically comparing results in duplication carriers and reciprocal deletion carriers, who are also at risk for ASD. DESIGN, SETTING, AND PARTICIPANTS:This international cohort study of 1006 study participants compared 270 duplication carriers with their 102 intrafamilial control individuals, 390 reciprocal deletion carriers, and 244 deletion controls from European and North American cohorts. Data were collected from August 1, 2010, to May 31, 2015 and analyzed from January 1 to August 14, 2015. Linear mixed models were used to estimate the effect of the duplication and deletion on clinical traits by comparison with noncarrier relatives. MAIN OUTCOMES AND MEASURES:Findings on the Full-Scale IQ (FSIQ), Nonverbal IQ, and Verbal IQ; the presence of ASD or other DSM-IV diagnoses; BMI; head circumference; and medical data. RESULTS:Among the 1006 study participants, the duplication was associated with a mean FSIQ score that was lower by 26.3 points between proband carriers and noncarrier relatives and a lower mean FSIQ score (16.2-11.4 points) in nonproband carriers. The mean overall effect of the deletion was similar (-22.1 points; P < .001). However, broad variation in FSIQ was found, with a 19.4- and 2.0-fold increase in the proportion of FSIQ scores that were very low (≤40) and higher than the mean (>100) compared with the deletion group (P < .001). Parental FSIQ predicted part of this variation (approximately 36.0% in hereditary probands). Although the frequency of ASD was similar in deletion and duplication proband carriers (16.0% and 20.0%, respectively), the FSIQ was significantly lower (by 26.3 points) in the duplication probands with ASD. There also were lower head circumference and BMI measurements among duplication carriers, which is consistent with the findings of previous studies. CONCLUSIONS AND RELEVANCE:The mean effect of the duplication on cognition is similar to that of the reciprocal deletion, but the variance in the duplication is significantly higher, with severe and mild subgroups not observed with the deletion. These results suggest that additional genetic and familial factors contribute to this variability. Additional studies will be necessary to characterize the predictors of cognitive deficits.
journal_name
JAMA Psychiatryjournal_title
JAMA psychiatryauthors
D'Angelo D,Lebon S,Chen Q,Martin-Brevet S,Snyder LG,Hippolyte L,Hanson E,Maillard AM,Faucett WA,Macé A,Pain A,Bernier R,Chawner SJ,David A,Andrieux J,Aylward E,Baujat G,Caldeira I,Conus P,Ferrari C,Forzano F,Gérdoi
10.1001/jamapsychiatry.2015.2123subject
Has Abstractpub_date
2016-01-01 00:00:00pages
20-30issue
1eissn
2168-622Xissn
2168-6238pii
2471269journal_volume
73pub_type
杂志文章相关文献
JAMA Psychiatry文献大全abstract:IMPORTANCE:After major policy changes in the United States, policymakers, health care professionals, and the general public seek information about whether recreational cannabis use is associated with physical health problems later in life. OBJECTIVE:To test associations between cannabis use over 20 years and a variety...
journal_title:JAMA psychiatry
pub_type: 杂志文章
doi:10.1001/jamapsychiatry.2016.0637
更新日期:2016-07-01 00:00:00
abstract:Importance:Tobacco use disorder is associated with dysregulated neurocognitive function in the right inferior frontal gyrus (IFG)-one node in a corticothalamic inhibitory control (IC) network. Objective:To examine associations between IC neural circuitry structure and function and lapse/relapse vulnerability in 2 inde...
journal_title:JAMA psychiatry
pub_type: 杂志文章
doi:10.1001/jamapsychiatry.2017.0017
更新日期:2017-04-01 00:00:00
abstract:IMPORTANCE:Patients with attention-deficit/hyperactivity disorder (ADHD) and obsessive-compulsive disorder (OCD) share impaired inhibitory control. However, it is unknown whether impairments are mediated by shared or disorder-specific neurostructural and neurofunctional abnormalities. OBJECTIVE:To establish shared and...
journal_title:JAMA psychiatry
pub_type: 杂志文章,meta分析
doi:10.1001/jamapsychiatry.2016.0700
更新日期:2016-08-01 00:00:00
abstract:Importance:Understanding the neurodevelopmental trajectory of psychiatric symptoms is important for improving early identification, intervention, and prevention of mental disorders. Objective:To test whether the strength of the coupling of activation between specific brain regions, as measured by resting-state functio...
journal_title:JAMA psychiatry
pub_type: 杂志文章
doi:10.1001/jamapsychiatry.2019.4208
更新日期:2020-04-01 00:00:00
abstract:IMPORTANCE:Brain imaging studies have identified robust changes in brain structure and function during the development of psychosis, but the contribution of abnormal brain connectivity to the onset of psychosis is unclear. Furthermore, antipsychotic treatment can modulate brain activity and functional connectivity duri...
journal_title:JAMA psychiatry
pub_type: 杂志文章
doi:10.1001/jamapsychiatry.2013.117
更新日期:2013-09-01 00:00:00
abstract:IMPORTANCE:Community functioning is a core component of the functional deficits in schizophrenia, yet little systematic research on the origins of these functional deficits has been performed. OBJECTIVES:To examine 3 key domains of community functioning--social activity, independent behavior, and functioning in school...
journal_title:JAMA psychiatry
pub_type: 杂志文章
doi:10.1001/jamapsychiatry.2015.2253
更新日期:2016-01-01 00:00:00
abstract:IMPORTANCE:Sedentary behaviors and physical inactivity are not only increasing worldwide but also are critical risk factors for adverse health outcomes. Yet, few studies have examined the effects of sedentary behavior on cognition or the long-term role of either behavior in early to middle adulthood. OBJECTIVE:To inve...
journal_title:JAMA psychiatry
pub_type: 杂志文章
doi:10.1001/jamapsychiatry.2015.2468
更新日期:2016-01-01 00:00:00
abstract:IMPORTANCE:Anorexia nervosa (AN) is a serious disorder with high rates of morbidity and mortality. Family-based treatment (FBT) is an evidence-based therapy for adolescent AN, but less than half of those who receive this approach recover. Hence, it is important to identify other approaches to prevent the development of...
journal_title:JAMA psychiatry
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1001/jamapsychiatry.2014.1025
更新日期:2014-11-01 00:00:00
abstract:IMPORTANCE:Recent estimates indicate that 6.5 million adolescents and young adults in the United States are neither in school nor working. These youth have significant mental health concerns that require intervention. OBJECTIVE:To determine whether a mental health intervention, integrated into an employment training p...
journal_title:JAMA psychiatry
pub_type: 杂志文章
doi:10.1001/jamapsychiatry.2014.2022
更新日期:2015-01-01 00:00:00
abstract:Importance:Suicide is a public health problem, with multiple causes that are poorly understood. The increased focus on combining health care data with machine-learning approaches in psychiatry may help advance the understanding of suicide risk. Objective:To examine sex-specific risk profiles for death from suicide usi...
journal_title:JAMA psychiatry
pub_type: 杂志文章
doi:10.1001/jamapsychiatry.2019.2905
更新日期:2020-01-01 00:00:00
abstract::In 1893 and 1896, in his fourth and fifth textbook editions, Emil Kraepelin brought together 3 syndromes to form the first and second of his 2 prequels to dementia praecox (DP), a definitive version of which he would propose in his 1899 sixth textbook edition. These syndromes, which would become hebephrenic DP, catato...
journal_title:JAMA psychiatry
pub_type: 杂志文章
doi:10.1001/jamapsychiatry.2020.1266
更新日期:2020-06-10 00:00:00
abstract:IMPORTANCE:Developmental brain disorders are a group of clinically and genetically heterogeneous disorders characterized by high heritability. Specific highly penetrant genetic causes can often be shared by a subset of individuals with different phenotypic features, and recent advances in genome sequencing have allowed...
journal_title:JAMA psychiatry
pub_type: 杂志文章
doi:10.1001/jamapsychiatry.2015.2692
更新日期:2016-03-01 00:00:00
abstract:IMPORTANCE:The neural systems that confer risk or vulnerability for developing familial depression, and those that protect against or confer resilience to becoming ill, can be disentangled from the effects of prior illness by comparing brain imaging measures in previously ill and never ill persons who have either a hig...
journal_title:JAMA psychiatry
pub_type: 杂志文章
doi:10.1001/jamapsychiatry.2013.4048
更新日期:2014-02-01 00:00:00
abstract:IMPORTANCE:Despite the prevalence of antenatal depression and the fact that only one-third of pregnant women with depression consider it acceptable to take antidepressants, the effect of untreated depression on neonatal outcomes remains to be addressed thoroughly. OBJECTIVE:To undertake a systematic review and meta-an...
journal_title:JAMA psychiatry
pub_type: 杂志文章,meta分析,评审
doi:10.1001/jamapsychiatry.2016.0934
更新日期:2016-08-01 00:00:00
abstract:Importance:Depression is associated with increased inflammation, which may precede its onset, especially in older people. Some preclinical data suggest potential antidepressant effects of aspirin, supported by limited observational data suggesting lower rates of depression in individuals treated with aspirin. There cur...
journal_title:JAMA psychiatry
pub_type: 杂志文章
doi:10.1001/jamapsychiatry.2020.1214
更新日期:2020-10-01 00:00:00
abstract::Suicide rates have continued to rise in the United States. Speculations for this rise proliferate but the causes for the increase remain unknown. While research focuses on identifying causes, the health care system is an important site for identification of patients at risk. Forty percent of individuals who die by sui...
journal_title:JAMA psychiatry
pub_type: 杂志文章
doi:10.1001/jamapsychiatry.2019.2769
更新日期:2020-01-01 00:00:00
abstract:Importance:Several recent population-based studies have linked exposure to maternal smoking during pregnancy to increased risk of severe mental illness in offspring (eg, bipolar disorder, schizophrenia). It is not yet clear, however, whether this association results from causal teratogenic effects or from confounding i...
journal_title:JAMA psychiatry
pub_type: 杂志文章
doi:10.1001/jamapsychiatry.2017.0456
更新日期:2017-06-01 00:00:00
abstract:IMPORTANCE:Studies have shown that the scientific literature has overestimated the efficacy of antidepressants for depression, but other indications for these drugs have not been considered. OBJECTIVE:To examine reporting biases in double-blind, placebo-controlled trials on the pharmacologic treatment of anxiety disor...
journal_title:JAMA psychiatry
pub_type: 杂志文章,meta分析
doi:10.1001/jamapsychiatry.2015.15
更新日期:2015-05-01 00:00:00
abstract:Importance:Suicide deaths are a leading cause of maternal mortality in the US, yet the prevalence and trends in suicidality (suicidal ideation and/or intentional self-harm) among childbearing individuals remain poorly described. Objective:To characterize trends in suicidality among childbearing individuals. Design, S...
journal_title:JAMA psychiatry
pub_type: 杂志文章
doi:10.1001/jamapsychiatry.2020.3550
更新日期:2020-11-18 00:00:00
abstract:Importance:Posttraumatic stress disorder (PTSD) is associated with an increased risk of type 2 diabetes mellitus (T2DM). Existing literature has adjusted for obesity in combination with other confounders, which does not allow estimating the contribution of obesity alone on the association of PTSD with incident T2DM. O...
journal_title:JAMA psychiatry
pub_type: 杂志文章
doi:10.1001/jamapsychiatry.2018.2028
更新日期:2018-11-01 00:00:00
abstract:Importance:Although spouses strongly resemble one another in their risk for alcohol use disorder (AUD), the causes of this association remain unclear. Objectives:To examine longitudinally, in first marriages, the association of a first registration for AUD in one spouse with risk of registration in his or her partner ...
journal_title:JAMA psychiatry
pub_type: 杂志文章
doi:10.1001/jamapsychiatry.2017.4457
更新日期:2018-03-01 00:00:00
abstract:IMPORTANCE:The single-nucleotide polymorphism rs1344706 in the zinc finger protein 804A gene (ZNF804A) shows genome-wide association with schizophrenia and bipolar disorder. Little is known regarding the expression of ZNF804A and the functionality of rs1344706. OBJECTIVES:To characterize ZNF804A expression in human br...
journal_title:JAMA psychiatry
pub_type: 杂志文章
doi:10.1001/jamapsychiatry.2014.1079
更新日期:2014-10-01 00:00:00
abstract:IMPORTANCE:Fragile X syndrome (FXS) is an X-linked neurogenetic disorder characterized by a cognitive and behavioral phenotype resembling features of autism spectrum disorder. Until now, research has focused largely on identifying regional differences in brain structure and function between individuals with FXS and var...
journal_title:JAMA psychiatry
pub_type: 杂志文章
doi:10.1001/jamapsychiatry.2013.247
更新日期:2013-11-01 00:00:00
abstract::IMPORTANCE—Suicide can be viewed as an escape from unendurable punishment at the cost of any future rewards. Could faulty estimation of these outcomes predispose to suicidal behavior? In behavioral studies, many of those who have attempted suicide misestimate expected rewards on gambling and probabilistic learning tas...
journal_title:JAMA psychiatry
pub_type: 杂志文章
doi:10.1001/jamapsychiatry.2013.75
更新日期:2013-10-01 00:00:00
abstract:Importance:Epidemiologic evidence indicates that most of the general population will experience a mental health disorder at some point in their lives. However, few prospective population-based studies have estimated trajectories of risk for mental disorders from young through middle adulthood to estimate the proportion...
journal_title:JAMA psychiatry
pub_type: 杂志文章
doi:10.1001/jamapsychiatry.2016.1921
更新日期:2016-10-01 00:00:00
abstract::CONTEXT Clinical experience and factor analytic studies suggest that some psychiatric disorders may be more closely related to one another, as indicated by the frequency of their co-occurrence, which may have etiologic and treatment implications. OBJECTIVE To construct a virtual space of common psychiatric disorders, ...
journal_title:JAMA psychiatry
pub_type: 杂志文章
doi:10.1001/jamapsychiatry.2013.281
更新日期:2013-02-01 00:00:00
abstract:IMPORTANCE:Mental health (MH) conditions are undertreated in late life. It is important to identify treatment strategies that address variability in treatment content and delivery and take individual-specific symptoms into account, particularly among low-income, community-dwelling older adults. OBJECTIVE:To evaluate p...
journal_title:JAMA psychiatry
pub_type: 杂志文章,随机对照试验
doi:10.1001/jamapsychiatry.2015.2157
更新日期:2015-12-01 00:00:00
abstract:IMPORTANCE:National epidemiologic information from recently collected data on the new DSM-5 classification of alcohol use disorder (AUD) using a reliable, valid, and uniform data source is needed. OBJECTIVE:To present nationally representative findings on the prevalence, correlates, psychiatric comorbidity, associated...
journal_title:JAMA psychiatry
pub_type: 杂志文章
doi:10.1001/jamapsychiatry.2015.0584
更新日期:2015-08-01 00:00:00
abstract:IMPORTANCE:Twin-family studies have shown that parent-child resemblance on substance use disorders and antisocial behavior can be accounted for by the transmission of a general liability to a spectrum of externalizing disorders. Most studies, however, include only biological parents and offspring, which confound geneti...
journal_title:JAMA psychiatry
pub_type: 杂志文章
doi:10.1001/jamapsychiatry.2013.258
更新日期:2013-10-01 00:00:00
abstract:Importance:Preeclampsia during pregnancy has been linked to an increased risk of cerebral palsy in offspring. Less is known about the role of preeclampsia in other neurodevelopmental disorders. Objective:To determine the association between preeclampsia and a range of adverse neurodevelopmental outcomes in offspring a...
journal_title:JAMA psychiatry
pub_type: 杂志文章
doi:10.1001/jamapsychiatry.2020.0306
更新日期:2020-08-01 00:00:00