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1.
Am J Psychiatry ; : appiajp201919060583, 2020 Feb 12.
Artigo em Inglês | MEDLINE | ID: mdl-32046535

RESUMO

OBJECTIVE: 22q11.2 deletion syndrome (22q11DS) is among the strongest known genetic risk factors for schizophrenia. Previous studies have reported variable alterations in subcortical brain structures in 22q11DS. To better characterize subcortical alterations in 22q11DS, including modulating effects of clinical and genetic heterogeneity, the authors studied a large multicenter neuroimaging cohort from the ENIGMA 22q11.2 Deletion Syndrome Working Group. METHODS: Subcortical structures were measured using harmonized protocols for gross volume and subcortical shape morphometry in 533 individuals with 22q11DS and 330 matched healthy control subjects (age range, 6-56 years; 49% female). RESULTS: Compared with the control group, the 22q11DS group showed lower intracranial volume (ICV) and thalamus, putamen, hippocampus, and amygdala volumes and greater lateral ventricle, caudate, and accumbens volumes (Cohen's d values, -0.90 to 0.93). Shape analysis revealed complex differences in the 22q11DS group across all structures. The larger A-D deletion was associated with more extensive shape alterations compared with the smaller A-B deletion. Participants with 22q11DS with psychosis showed lower ICV and hippocampus, amygdala, and thalamus volumes (Cohen's d values, -0.91 to 0.53) compared with participants with 22q11DS without psychosis. Shape analysis revealed lower thickness and surface area across subregions of these structures. Compared with subcortical findings from other neuropsychiatric disorders studied by the ENIGMA consortium, significant convergence was observed between participants with 22q11DS with psychosis and participants with schizophrenia, bipolar disorder, major depressive disorder, and obsessive-compulsive disorder. CONCLUSIONS: In the largest neuroimaging study of 22q11DS to date, the authors found widespread alterations to subcortical brain structures, which were affected by deletion size and psychotic illness. Findings indicate significant overlap between 22q11DS-associated psychosis, idiopathic schizophrenia, and other severe neuropsychiatric illnesses.

2.
J Am Acad Child Adolesc Psychiatry ; 59(1): 100-112, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31326580

RESUMO

OBJECTIVE: To review all literature on the nonmedical use (NMU) and diversion of prescription stimulants to better understand the characteristics, risk factors, and outcomes of NMU and to review risk-reduction strategies. METHOD: We systematically searched PubMed, PsycINFO, and SCOPUS from inception to May 2018 for studies containing empirical data about NMU and diversion of prescription stimulants. Additional references identified by the authors were also assessed for inclusion. RESULTS: A total of 111 studies met inclusion criteria. NMU and diversion of stimulants are highly prevalent; self-reported rates among population samples range from 2.1% to 58.7% and from 0.7% to 80.0%, respectively. A variety of terms are used to describe NMU, and most studies have examined college students. Although most NMU is oral, non-oral NMU also occurs. The majority of NMU is associated with no, or minor, medical effects; however, adverse medical outcomes, including death, occur in some individuals, particularly when administered by non-oral routes. Although academic and occupational performance enhancement are the most commonly cited motivations, there is little evidence that academic performance is improved by NMU in individuals without attention-deficit/hyperactivity disorder. CONCLUSION: NMU of stimulants is a significant public health problem, especially in college students, but variations in the terms used to describe NMU and inconsistencies in the available data limit a better understanding of this problem. Further research is needed to develop methods to detect NMU, identify individuals at greatest risk, study routes of administration, and devise educational and other interventions to help reduce occurrence of NMU. Colleges should consider including NMU in academic integrity policies.

3.
J Am Coll Health ; : 1-9, 2019 Sep 09.
Artigo em Inglês | MEDLINE | ID: mdl-31498751

RESUMO

Objective: The prevalence of stimulant medication misuse is rising in college students. Motivations to use stimulant medications differ from motivation to use other substances such as alcohol or cannabis. However, no previous research has examined the impact of achievement goal orientation on stimulant misuse in college students. Participants: 309 college students (mean age = 18.9; 117 males) without an ADHD diagnosis were invited to participate. Methods: Participants completed an online research questionnaire that assessed factors associated with stimulant medication misuse as well as achievement goal orientations (Learning and Performance Orientations). Results: Approximately 12% endorsed a history of stimulant misuse within the past year. More males (17.1%) than females (9.4%) reported stimulant misuse. Those with and without a history of stimulant misuse differed on Performance Orientation (misuse > no misuse) yet were comparable on Learning Orientation. Conclusions: Having a higher Performance Orientation independently predicted stimulant misuse.

4.
Mol Psychiatry ; 2019 Jul 29.
Artigo em Inglês | MEDLINE | ID: mdl-31358905

RESUMO

22q11.2 deletion syndrome (22q11DS)-a neurodevelopmental condition caused by a hemizygous deletion on chromosome 22-is associated with an elevated risk of psychosis and other developmental brain disorders. Prior single-site diffusion magnetic resonance imaging (dMRI) studies have reported altered white matter (WM) microstructure in 22q11DS, but small samples and variable methods have led to contradictory results. Here we present the largest study ever conducted of dMRI-derived measures of WM microstructure in 22q11DS (334 22q11.2 deletion carriers and 260 healthy age- and sex-matched controls; age range 6-52 years). Using harmonization protocols developed by the ENIGMA-DTI working group, we identified widespread reductions in mean, axial and radial diffusivities in 22q11DS, most pronounced in regions with major cortico-cortical and cortico-thalamic fibers: the corona radiata, corpus callosum, superior longitudinal fasciculus, posterior thalamic radiations, and sagittal stratum (Cohen's d's ranging from -0.9 to -1.3). Only the posterior limb of the internal capsule (IC), comprised primarily of corticofugal fibers, showed higher axial diffusivity in 22q11DS. 22q11DS patients showed higher mean fractional anisotropy (FA) in callosal and projection fibers (IC and corona radiata) relative to controls, but lower FA than controls in regions with predominantly association fibers. Psychotic illness in 22q11DS was associated with more substantial diffusivity reductions in multiple regions. Overall, these findings indicate large effects of the 22q11.2 deletion on WM microstructure, especially in major cortico-cortical connections. Taken together with findings from animal models, this pattern of abnormalities may reflect disrupted neurogenesis of projection neurons in outer cortical layers.

5.
Curr Psychiatry Rep ; 21(5): 34, 2019 03 22.
Artigo em Inglês | MEDLINE | ID: mdl-30903299

RESUMO

PURPOSE OF REVIEW: Autism spectrum disorder (ASD) and attention deficit/hyperactivity disorder (ADHD) are both increasing in prevalence and commonly co-occur with each other. The goal of this review is to outline what has been published recently on the topics of ASD, ADHD, and the comorbid state (ASD+ADHD) with a particular focus on shared phenomenology, differential diagnosis, and treatment considerations. RECENT FINDINGS: ASD and ADHD have shared genetic heritability and are both associated with shared impairments in social functioning and executive functioning. Quantitative and qualitative differences exist, however, in the phenotypic presentations of the impairments which characterize ASD and ADHD. For ASD interventions to be maximally efficacious, comorbid ADHD needs to be considered (and vice versa). The research on ASD and ADHD suggests some overlap between the two disorders yet enough differences to indicate that these conditions are sufficiently distinct to warrant separate diagnostic categories.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Transtorno do Deficit de Atenção com Hiperatividade/terapia , Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/terapia , Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Transtorno do Espectro Autista/epidemiologia , Comorbidade , Manual Diagnóstico e Estatístico de Transtornos Mentais , Função Executiva/fisiologia , Humanos , Prevalência
6.
J Atten Disord ; : 1087054718821734, 2019 Jan 09.
Artigo em Inglês | MEDLINE | ID: mdl-30623746

RESUMO

OBJECTIVE: Despite the association between childhood ADHD and long-term negative outcomes, there is a significant delay to treatment and a low rate of lifetime treatment contact for individuals with ADHD. METHOD: The current study examined (a) variables associated with parental treatment-seeking attitudes and information-seeking behaviors and (b) the relationship between these attitudes and behaviors in 87 non-treatment-seeking parents whose children had elevated ADHD symptoms. RESULTS: Regressions indicated that attitudes toward ADHD treatment were associated with ADHD knowledge and misconceptions ( ps < .01), susceptibility to ADHD stigma ( p < .001), and satisfaction with past providers ( ps < .01). Experience with past providers was significantly associated with information-seeking behavior ( ps < .01). CONCLUSION: Parental knowledge of ADHD, low levels of stigma, and positive experiences with past providers were the strongest predictors of positive attitudes about ADHD treatment. Experience with past providers was the only factor related to treatment-seeking behavior. These results offer avenues to decreasing barriers to treatment in pediatric ADHD.

7.
Psychol Med ; 49(11): 1914-1922, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-30226117

RESUMO

BACKGROUND: Chromosome 22q11.2 deletion syndrome (22q11DS) is associated with high rates of psychiatric disorders, including schizophrenia in up to 30% of individuals with the syndrome. Despite this, we know relatively little about trajectories and predictors of persistence of psychiatric disorders from middle childhood to early adulthood. Accordingly, we followed youth over four timepoints, every 3 years, to assess long-term trajectories of attention-deficit hyperactivity disorder (ADHD), anxiety, mood, and psychosis-spectrum disorders (PSDs), as well as medication usage. METHODS: Eighty-seven youth with 22q11DS and 65 controls between the ages of 9 and 15 years at the first timepoint (T1; mean age 11.88 ± 2.1) were followed for 9 years (mean age of 21.22 ± 2.01 years at T4). Baseline cognitive, clinical, and familial predictors of persistence were identified for each class of psychiatric disorders. RESULTS: Baseline age and parent-rated hyperactivity scores predicted ADHD persistence [area under curve (AUC) = 0.81]. The presence of family conflict predicted persistence of anxiety disorders (ADs) whereas parent ratings of child internalizing symptoms predicted persistence of both anxiety and mood disorders (MDs) (AUC = 0.84 and 0.83, respectively). Baseline prodromal symptoms predicted persistent and emergent PSDs (AUC = 0.83). Parent-reported use of anti-depressants/anxiolytics increased significantly from T1 to T4. CONCLUSIONS: Psychiatric, behavioral, and cognitive functioning during late childhood and early adolescence successfully predicted children with 22q11DS who were at highest risk for persistent psychiatric illness in young adulthood. These findings emphasize the critical importance of early assessments and interventions in youth with 22q11DS.

8.
J Atten Disord ; 23(1): 12-21, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-26610740

RESUMO

OBJECTIVE: To examine the association of personality traits and characteristics on quality of life and functioning in adults with ADHD. METHOD: Participants were adults with ( n = 206) and without ADHD ( n = 123) who completed the Temperament and Character Inventory (TCI), the Quality of Life Enjoyment and Satisfaction Questionnaire (Q-LES-Q), and the Social Adjustment Scale-Self-Report (SAS-SR). Participants also provided information on academic, motor vehicle operation, legal, social, familial, and occupational functioning. Outcomes were examined using stepwise linear regression, logistic regression (for binary outcomes), and negative binomial regression (for count outcomes) controlling for ADHD symptoms, psychiatric comorbidity, and executive dysfunction. RESULTS: Adults with ADHD significantly differed from controls across nearly all TCI personality domains. On average, adults with ADHD endorsed more novelty seeking, harm avoidance, and self-transcendence, and less reward dependence, persistence, self-directedness, and cooperativeness. Personality traits and characteristics, especially self-directedness, significantly predicted functional impairments even after controlling for ADHD symptoms, executive function deficits, and current psychiatric comorbidities. CONCLUSION: In adults with ADHD, personality traits exert unique associations on quality of life and functional impairment across major life domains, beyond the relations expected of and associated with ADHD symptoms and other associated psychiatric conditions and cognitive vulnerabilities. Addressing personality traits in adults with ADHD may lead to improvements in quality of life and reductions in functional impairment.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/psicologia , Personalidade , Qualidade de Vida , Adolescente , Adulto , Estudos de Casos e Controles , Caráter , Função Executiva/fisiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Satisfação Pessoal , Inventário de Personalidade/estatística & dados numéricos , Temperamento/fisiologia , Adulto Jovem
9.
J Atten Disord ; 23(9): 985-994, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-28490222

RESUMO

OBJECTIVE: The aim of this study is to understand how ADHD symptoms correlate with romantic relationship maintenance and test theoretical pathways by which symptoms of ADHD lead to relationship difficulties. METHOD: This study involved two phases of data collection, which were identical except for the population. Phase 1 ( n = 172) was a nonclinical sample of romantically involved young adults. Phase 2 ( n = 39) was a clinical sample of romantically involved young adults with ADHD. Participants in both phases reported on their levels of inattention and hyperactivity-impulsivity, their relationship maintenance activities, and their relationship quality. RESULTS: ADHD symptoms were associated with greater relationship difficulties. In both samples, inattentive symptoms were associated with greater interest in relational alternatives and less constructive responses to partner's bad behaviors, whereas hyperactive-impulsive symptoms were associated with negative responses to bad behavior. CONCLUSION: The results of this study have implications for developing cognitive-behavioral therapy interventions targeting relationship difficulties in young adults with ADHD.

10.
Neuroimage Clin ; 21: 101611, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30522971

RESUMO

BACKGROUND: 22q11.2 Deletion Syndrome (22q11DS) is a genetic, neurodevelopmental disorder characterized by a chromosomal deletion and a distinct cognitive profile. Although abnormalities in the macrostructure of the cortex have been identified in individuals with 22q11DS, it is not known if there are additional microstructural changes in gray matter regions in this syndrome, and/or if such microstructural changes are associated with cognitive functioning. METHODS: This study employed a novel diffusion MRI measure, the Heterogeneity of Fractional Anisotropy (HFA), to examine variability in the microstructural organization of the cortex in healthy young adults (N = 30) and those with 22q11DS (N = 56). Diffusion MRI, structural MRI, clinical and cognitive data were acquired. RESULTS: Compared to controls, individuals with 22q11DS evinced increased HFA in cortical association (p = .003, d = 0.86) and paralimbic (p < .0001, d = 1.2) brain areas, whereas no significant differences were found between the two groups in primary cortical brain areas. Additionally, increased HFA of the right paralimbic area was associated with poorer performance on tests of response inhibition, i.e., the Stroop Test (rho = -0.37 p = .005) and the Gordon Diagnostic System Vigilance Commission (rho = -0.41 p = .002) in the 22q11DS group. No significant correlations were found between HFA and cognitive abilities in the healthy control group. CONCLUSIONS: These findings suggest that cortical microstructural disorganization may be a neural correlate of response inhibition in individuals with 22q11DS. Given that the migration pattern of neural crest cells is disrupted at the time of early brain development in 22q11DS, we hypothesize that these neural alterations may be neurodevelopmental in origin, and reflect cortical dysfunction associated with cognitive deficits.


Assuntos
Síndrome da Deleção 22q11/patologia , Encéfalo/patologia , Substância Cinzenta/patologia , Síndrome da Deleção 22q11/diagnóstico por imagem , Síndrome da Deleção 22q11/psicologia , Adolescente , Adulto , Anisotropia , Encéfalo/diagnóstico por imagem , Imagem de Difusão por Ressonância Magnética , Feminino , Substância Cinzenta/diagnóstico por imagem , Humanos , Masculino , Teste de Stroop , Adulto Jovem
11.
J Int Neuropsychol Soc ; 24(9): 905-916, 2018 10.
Artigo em Inglês | MEDLINE | ID: mdl-30375321

RESUMO

OBJECTIVE: While individuals with 22q11.2 deletion syndrome (22q11DS) are at increased risk for a variety of functional impairments and psychiatric disorders, including psychosis, not all individuals with 22q11DS experience negative outcomes. Efforts to further understand which childhood variables best predict adult functional outcomes are needed, especially those that investigate childhood executive functioning abilities. METHODS: This longitudinal study followed 63 individuals with 22q11DS and 43 control participants over 9 years. Childhood executive functioning ability was assessed using both rater-based and performance-based measures and tested as predictors of young adult outcomes. RESULTS: Childhood global executive functioning abilities and parent report of child executive functioning abilities were the most consistent predictors of young adult outcomes. The study group moderated the relationship between child executive functioning and young adult outcomes for several outcomes such that the relationships were stronger in the 22q11DS sample. CONCLUSION: Rater-based and performance-based measures of childhood executive functioning abilities predicted young adult outcomes in individuals with and without 22q11DS. Executive functioning could be a valuable target for treatment in children with 22q11DS for improving not only childhood functioning but also adult outcomes. (JINS, 2018, 24, 905-916).

12.
Cortex ; 108: 67-79, 2018 11.
Artigo em Inglês | MEDLINE | ID: mdl-30130634

RESUMO

Chromosome 22q11.2 Deletion Syndrome (22q11DS) is a genetic syndrome characterized by a variety of cognitive impairments, including difficulty with attention. 22q11DS is the strongest known genetic risk factor for developing schizophrenia, a disorder characterized by impairments in visual attention and temporal binding processes. Here we examine a specific temporal visual attention phenomenon (the attentional blink; AB) within two rapid serial visual presentation tasks, and compare those with 22q11DS to groups of typically developing individuals matched on chronological (CA) and mental age (MA). Performance of individuals with 22q11DS was sensitive to differing task demands. On a Category Task, individuals with 22q11DS performed similarly to control groups on all measures of the AB, with the exception of lower detection accuracy of the first of two targets. In contrast, on a feature-based Color Task which required temporal binding of stimulus features, individuals with 22q11DS differed from CA and MA matched control groups on all AB performance measures, exhibiting lower target accuracy, more temporal binding errors, and a deeper, more protracted AB. Temporal binding in the visual domain is thought to be dependent on a serial attention mechanism that facilitates simultaneous firing of neurons in multiple areas of the visual cortex, activating short-term working memory for storage of bound features. Given the discrepancy between these two tasks, results suggest that temporal binding processes may be significantly affected in individuals with 22q11DS, a finding that importantly, has been previously demonstrated among individuals with schizophrenia.


Assuntos
Intermitência na Atenção Visual/fisiologia , Síndrome de DiGeorge/fisiopatologia , Percepção Visual/fisiologia , Adolescente , Atenção/fisiologia , Síndrome de DiGeorge/genética , Feminino , Humanos , Masculino , Testes Neuropsicológicos , Adulto Jovem
13.
Mol Psychiatry ; 2018 Jun 13.
Artigo em Inglês | MEDLINE | ID: mdl-29895892

RESUMO

The 22q11.2 deletion (22q11DS) is a common chromosomal microdeletion and a potent risk factor for psychotic illness. Prior studies reported widespread cortical changes in 22q11DS, but were generally underpowered to characterize neuroanatomic abnormalities associated with psychosis in 22q11DS, and/or neuroanatomic effects of variability in deletion size. To address these issues, we developed the ENIGMA (Enhancing Neuro Imaging Genetics Through Meta-Analysis) 22q11.2 Working Group, representing the largest analysis of brain structural alterations in 22q11DS to date. The imaging data were collected from 10 centers worldwide, including 474 subjects with 22q11DS (age = 18.2 ± 8.6; 46.9% female) and 315 typically developing, matched controls (age = 18.0 ± 9.2; 45.9% female). Compared to controls, 22q11DS individuals showed thicker cortical gray matter overall (left/right hemispheres: Cohen's d = 0.61/0.65), but focal thickness reduction in temporal and cingulate cortex. Cortical surface area (SA), however, showed pervasive reductions in 22q11DS (left/right hemispheres: d = -1.01/-1.02). 22q11DS cases vs. controls were classified with 93.8% accuracy based on these neuroanatomic patterns. Comparison of 22q11DS-psychosis to idiopathic schizophrenia (ENIGMA-Schizophrenia Working Group) revealed significant convergence of affected brain regions, particularly in fronto-temporal cortex. Finally, cortical SA was significantly greater in 22q11DS cases with smaller 1.5 Mb deletions, relative to those with typical 3 Mb deletions. We found a robust neuroanatomic signature of 22q11DS, and the first evidence that deletion size impacts brain structure. Psychotic illness in this highly penetrant deletion was associated with similar neuroanatomic abnormalities to idiopathic schizophrenia. These consistent cross-site findings highlight the homogeneity of this single genetic etiology, and support the suitability of 22q11DS as a biological model of schizophrenia.

14.
J Pediatr Psychol ; 43(6): 636-644, 2018 07 01.
Artigo em Inglês | MEDLINE | ID: mdl-29378061

RESUMO

Background: 22q11.2 deletion syndrome (22q11DS) is a common microdeletion syndrome associated with a variety of negative health, cognitive, emotional, and behavioral outcomes. 22q11DS is comorbid with many psychiatric disorders including attention-deficit/hyperactivity disorder (ADHD). The current study aimed to investigate the cognitive, behavioral, and functional outcomes that a childhood ADHD diagnosis predicts to in adulthood. Methods: This longitudinal study followed 52 individuals with 22q11DS over 9 years. Childhood ADHD was operationalized both categorically (Diagnostic and statistical manual - 4th edition (DSM-IV) ADHD diagnoses) and dimensionally (inattentive and hyperactive-impulsive symptoms) and was tested as predictors of young adult outcomes. Results: As young adults, children with 22q11DS + baseline ADHD had more parent-reported executive dysfunction and lower levels of clinician-rated overall functioning than those with 22q11DS yet without ADHD. Dimensional symptoms of ADHD in childhood did not predict young adult outcomes. No self-report differences emerged between those with and without baseline ADHD. The majority (82.4%) of individuals with 22q11DS + baseline ADHD were never treated with an ADHD medication. Conclusions: A categorical diagnosis of ADHD in childhood predicted a greater variety of worse outcomes than dimensional levels of ADHD symptoms. Despite the significant impact of comorbid ADHD in 22q11DS, evidence-based treatment rates were low.


Assuntos
Síndrome da Deleção 22q11/psicologia , Transtorno do Deficit de Atenção com Hiperatividade/psicologia , Síndrome da Deleção 22q11/diagnóstico , Síndrome da Deleção 22q11/epidemiologia , Adolescente , Adulto , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Criança , Comorbidade , Progressão da Doença , Função Executiva , Feminino , Humanos , Estudos Longitudinais , Masculino , Prognóstico , Estados Unidos/epidemiologia , Adulto Jovem
15.
Behav Brain Funct ; 14(1): 2, 2018 Jan 20.
Artigo em Inglês | MEDLINE | ID: mdl-29352808

RESUMO

BACKGROUND: 22q11.2 deletion syndrome (22q11DS) is a neurodevelopmental syndrome associated with deficits in cognitive and emotional processing. This syndrome represents one of the highest risk factors for the development of schizophrenia. Previous studies of functional connectivity (FC) in 22q11DS report aberrant connectivity patterns in large-scale networks that are associated with the development of psychotic symptoms. METHODS: In this study, we performed a functional connectivity analysis using the CONN toolbox to test for differential connectivity patterns between 54 individuals with 22q11DS and 30 healthy controls, between the ages of 17-25 years old. We mapped resting-state fMRI data onto 68 atlas-based regions of interest (ROIs) generated by the Desikan-Killany atlas in FreeSurfer, resulting in 2278 ROI-to-ROI connections for which we determined total linear temporal associations between each. Within the group with 22q11DS only, we further tested the association between prodromal symptoms of psychosis and FC. RESULTS: We observed that relative to controls, individuals with 22q11DS displayed increased FC in lobar networks involving the frontal-frontal, frontal-parietal, and frontal-occipital ROIs. In contrast, FC between ROIs in the parietal-temporal and occipital lobes was reduced in the 22q11DS group relative to healthy controls. Moreover, positive psychotic symptoms were positively associated with increased functional connections between the left precuneus and right superior frontal gyrus, as well as reduced functional connectivity between the bilateral pericalcarine. Positive symptoms were negatively associated with increased functional connectivity between the right pericalcarine and right postcentral gyrus. CONCLUSIONS: Our results suggest that functional organization may be altered in 22q11DS, leading to disruption in connectivity between frontal and other lobar substructures, and potentially increasing risk for prodromal psychosis.


Assuntos
Atlas como Assunto , Mapeamento Encefálico/métodos , Síndrome de DiGeorge/diagnóstico por imagem , Lobo Frontal/diagnóstico por imagem , Rede Nervosa/diagnóstico por imagem , Adolescente , Adulto , Síndrome de DiGeorge/genética , Feminino , Humanos , Estudos Longitudinais , Imagem por Ressonância Magnética/métodos , Masculino , Adulto Jovem
16.
Neuroimage Clin ; 15: 832-842, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28761808

RESUMO

Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a genetic neurodevelopmental syndrome that has been studied intensively in order to understand relationships between the genetic microdeletion, brain development, cognitive function, and the emergence of psychiatric symptoms. White matter microstructural abnormalities identified using diffusion tensor imaging methods have been reported to affect a variety of neuroanatomical tracts in 22q11.2DS. In the present study, we sought to combine two discovery-based approaches: (1) white matter query language was used to parcellate the brain's white matter into tracts connecting pairs of 34, bilateral cortical regions and (2) the diffusion imaging characteristics of the resulting tracts were analyzed using a machine-learning method called support vector machine in order to optimize the selection of a set of imaging features that maximally discriminated 22q11.2DS and comparison subjects. With this unique approach, we both confirmed previously-recognized 22q11.2DS-related abnormalities in the inferior longitudinal fasciculus (ILF), and identified, for the first time, 22q11.2DS-related anomalies in the middle longitudinal fascicle and the extreme capsule, which may have been overlooked in previous, hypothesis-guided studies. We further observed that, in participants with 22q11.2DS, ILF metrics were significantly associated with positive prodromal symptoms of psychosis.


Assuntos
Síndrome de DiGeorge/diagnóstico por imagem , Fibras Nervosas Mielinizadas/patologia , Adulto , Síndrome de DiGeorge/genética , Imagem de Tensor de Difusão/métodos , Feminino , Humanos , Aprendizado de Máquina , Masculino , Rede Nervosa/patologia , Testes Neuropsicológicos , Substância Branca/patologia , Adulto Jovem
17.
J Autism Dev Disord ; 47(8): 2480-2501, 2017 08.
Artigo em Inglês | MEDLINE | ID: mdl-28527096

RESUMO

The primary objectives of the current prospective longitudinal study were to (a) describe social functioning outcomes and (b) identify childhood predictors of social functioning in young adults with 22q11.2 deletion syndrome (22q11.2DS). Childhood predictors of young adult social functioning were examined. Family environment and parental stress in adolescence were investigated as potential mediators between childhood variables and adult social functioning. Parent rated childhood internalizing symptoms significantly predicted young adult social functioning in 22q11.2DS, even after controlling for concurrent positive symptoms of psychosis, and problem behaviors contributing to parenting stress in adolescence partially mediated this relationship. These findings highlight child internalizing symptoms and adolescent problem behaviors as potential targets for social functioning interventions in 22q11.2DS.


Assuntos
Síndrome de DiGeorge/diagnóstico , Comportamento Problema , Comportamento Social , Adolescente , Criança , Feminino , Humanos , Masculino
18.
JIMD Rep ; 37: 115-123, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28391442

RESUMO

INTRODUCTION: Cognitive impairment is a well-known complication of classical galactosemia (CG). Differences in patient characteristics and test methods have hampered final conclusions regarding the extent of intellectual disabilities in CG. The primary aim of this systematic review was to assess intellectual performance in early-treated (≤4 weeks of life) individuals with confirmed CG (defined by absent or barely detectable GALT enzyme activity and/or the presence of two null or severe missense variations), assessed with comparable test instruments. The full-scale IQ (FSIQ) was the variable of interest. METHODS: A clinical librarian developed search strategies, and two independent investigators performed the study selection, risk of bias assessment and data extraction. Individual patient data were pooled for meta-analysis using linear mixed-effect models with a random intercept per study and including covariates (age or gender) as fixed effects where appropriate. RESULTS: Four articles were included in this meta-analysis. Data of 87 individuals (median age 13 years, range 3-38 years) were used to assess mean FSIQ in CG. The FSIQ ranged from 47 to 122, and the mean score was 87 (95% CI, 81-94). Forty-five percent of individuals attained scores <85, almost 40% attained scores of 85-100, and a minority (15%) attained scores above 100. There was no significant correlation between FSIQ and age. CONCLUSIONS: Results from this meta-analysis fortify conclusions from previous studies that early-treated individuals with CG are at risk for having impaired cognitive abilities. However, IQ varies considerably between affected individuals.

19.
Schizophr Bull ; 43(5): 1079-1089, 2017 09 01.
Artigo em Inglês | MEDLINE | ID: mdl-28204757

RESUMO

Nearly one-third of individuals with 22q11.2 deletion syndrome (22q11.2DS) develop a psychotic disorder during life, most of them by early adulthood. Importantly, a full-blown psychotic episode is usually preceded by subthreshold symptoms. In the current study, 760 participants (aged 6-55 years) with a confirmed hemizygous 22q11.2 microdeletion have been recruited through 10 medical sites worldwide, as part of an international research consortium. Of them, 692 were nonpsychotic and with complete measurement data. Subthreshold psychotic symptoms were assessed using the Structured Interview for Prodromal Syndromes (SIPS). Nearly one-third of participants met criteria for positive subthreshold psychotic symptoms (32.8%), less than 1% qualified for acute positive subthreshold symptoms, and almost a quarter met criteria for negative/disorganized subthreshold symptoms (21.7%). Adolescents and young adults (13-25 years) showed the highest rates of subthreshold psychotic symptoms. Additionally, higher rates of anxiety disorders and attention deficit/hyperactivity disorder (ADHD) were found among the study participants with subthreshold psychotic symptoms compared to those without. Full-scale IQ, verbal IQ, and global functioning (GAF) scores were negatively associated with participants' subthreshold psychotic symptoms. This study represents the most comprehensive analysis reported to date on subthreshold psychosis in 22q11.2DS. Novel findings include age-related changes in subthreshold psychotic symptoms and evidence that cognitive deficits are associated with subthreshold psychosis in this population. Future studies should longitudinally follow these symptoms to detect whether and how early identification and treatment of these manifestations can improve long-term outcomes in those that eventually develop a psychotic disorder.


Assuntos
Transtornos de Ansiedade/epidemiologia , Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Disfunção Cognitiva/epidemiologia , Síndrome de DiGeorge/epidemiologia , Transtornos Psicóticos/epidemiologia , Adolescente , Adulto , Transtornos de Ansiedade/diagnóstico , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Criança , Disfunção Cognitiva/diagnóstico , Comorbidade , Síndrome de DiGeorge/diagnóstico , Humanos , Pessoa de Meia-Idade , Sintomas Prodrômicos , Transtornos Psicóticos/diagnóstico , Adulto Jovem
20.
Behav Brain Funct ; 13(1): 4, 2017 Feb 16.
Artigo em Inglês | MEDLINE | ID: mdl-28209179

RESUMO

BACKGROUND: Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a neurogenetic disorder that is associated with a 25-fold increase in schizophrenia. Both individuals with 22q11.2DS and those with schizophrenia present with social cognitive deficits, which are putatively subserved by a network of brain regions that are involved in the processing of social cognitive information. This study used two-tensor tractography to examine the white matter tracts believed to underlie the social brain network in a group of 57 young adults with 22q11.2DS compared to 30 unaffected controls. RESULTS: Results indicated that relative to controls, participants with 22q11.2DS showed significant differences in several DTI metrics within the inferior fronto-occipital fasciculus, cingulum bundle, thalamo-frontal tract, and inferior longitudinal fasciculus. In addition, participants with 22q11.2DS showed significant differences in scores on measures of social cognition, including the Social Responsiveness Scale and Trait Emotional Intelligence Questionnaire. Further analyses among individuals with 22q11.2DS demonstrated an association between DTI metrics and positive and negative symptoms of psychosis, as well as differentiation between individuals with 22q11.2DS and overt psychosis, relative to those with positive prodromal symptoms or no psychosis. CONCLUSIONS: Findings suggest that white matter disruption, specifically disrupted axonal coherence in the right inferior fronto-occipital fasciculus, may be a biomarker for social cognitive difficulties and psychosis in individuals with 22q11.2DS.


Assuntos
Encéfalo/diagnóstico por imagem , Síndrome de DiGeorge/diagnóstico por imagem , Síndrome de DiGeorge/psicologia , Imagem de Tensor de Difusão , Rede Nervosa/diagnóstico por imagem , Transtornos do Comportamento Social/diagnóstico por imagem , Transtornos do Comportamento Social/psicologia , Adolescente , Estudos Transversais , Síndrome de DiGeorge/epidemiologia , Imagem de Tensor de Difusão/métodos , Feminino , Humanos , Estudos Longitudinais , Masculino , Transtornos do Comportamento Social/epidemiologia , Adulto Jovem
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