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1.
Article in English | MEDLINE | ID: mdl-37923550

ABSTRACT

Objective: To assess the extent to which articles examining telepsychiatry after the start of the COVID-19 pandemic provided racial and sociodemographic characteristics for people receiving audiovisual (video) versus audio-only telepsychiatry.Data Sources, Study Selection, and Data Extraction: We employed the keyword telepsychiatry and screened all peer-reviewed articles in PubMed published from March 1, 2020, until November 23, 2022, prior to the federal government's announcement of the impending end to the COVID-19 public health emergency. We retrieved and reviewed the full-text articles of 553 results for potential inclusion, of which 266 were original research articles.Results: We found that 106 of 553 articles had any mention of differences between audio-only and audiovisual telepsychiatry. Twenty-nine of 553 articles described potential socioeconomic differences in the distribution of people receiving audio-only versus audiovisual telepsychiatry, and 20 of 553 described potential racial/ethnic differences. Among research articles, most (213/266) did not differentiate between videoconferencing and audio-only/telephone-based telehealth services. A total of 4 research articles provided racial and sociodemographic characteristics of individuals who received audio-only versus audiovisual telepsychiatry services during the COVID-19 pandemic, all of which were conducted in relatively small regional samples that could not be generalized to the US as a whole.Conclusions: Overall, this analysis underscores that empirical data are lacking on racial and sociodemographic distribution of audio-only versus audiovisual telepsychiatry services since the COVID-19 pandemic.Prim Care Companion CNS Disord 2023;25(6):23r03563. Author affiliations are listed at the end of this article.


Subject(s)
COVID-19 , Psychiatry , Telemedicine , Humans , Telemedicine/methods , Psychiatry/methods , Public Health , Pandemics , Systemic Racism
2.
J Am Acad Child Adolesc Psychiatry ; 62(10): 1089-1091, 2023 10.
Article in English | MEDLINE | ID: mdl-37532183

ABSTRACT

The perinatal period (pregnancy up to 1 year postpartum) is one of immense psychological and physical changes, many of which increase the risk for psychopathology for parent-child dyads. Families with infants requiring neonatal intensive care unit (NICU) interventions face additional challenges and distress in both the short and long term. Approximately 7% to 12% of infants require NICU admission for many factors including prematurity and neonatal complications1; 2% to 30% experience postpartum depression.2 Although something is known about NICU distress, a nuanced understanding of the experiences of NICU families is lacking, including their effects on longer-term mental health for parents and children. This is particularly true for families of minoritized groups, who often experience additional stressors, including interpersonal and systemic racism as well as differential Social Determinants of Health (SDoH)-the conditions in which people are born, grow, live, work, and age.


Subject(s)
Intensive Care Units, Neonatal , Mental Health , Infant, Newborn , Infant , Female , Pregnancy , Humans , Mothers/psychology , Infant, Premature/psychology , Parents/psychology
3.
J Am Acad Child Adolesc Psychiatry ; 61(10): 1211-1217, 2022 10.
Article in English | MEDLINE | ID: mdl-35358663

ABSTRACT

Racial inequity in mental health care quality is influenced by many systems-level factors, as elucidated by critical race theory, structural competency, and other keystone frameworks.1 A growing body of literature also suggests provider-level bias to be a key driver.1-3 There is specific evidence that racism is an important driver of health inequities among youth4 and that it is mediated, in part, by provider-level processes related to diagnosis and treatment.2 For example, in child and adolescent psychiatry, youth who are Black, Indigenous, and People of Color (BIPOC) experience disproportionate rates of delayed diagnosis and treatment of autism spectrum disorder, overdiagnosis of conduct disorder, and underdiagnosis of attention-deficit/hyperactivity disorder.4 Black and multiracial adolescents are at highest risk of suicide,5 yet are least likely to receive preventive psychotherapy.4.


Subject(s)
Autism Spectrum Disorder , Racism , Adolescent , Adolescent Psychiatry , Autism Spectrum Disorder/diagnosis , Autism Spectrum Disorder/therapy , Child , Digital Technology , Family , Humans
5.
Dev Psychopathol ; 32(4): 1190-1205, 2020 10.
Article in English | MEDLINE | ID: mdl-33161906

ABSTRACT

Impairment in reciprocal social behavior (RSB), an essential component of early social competence, clinically defines autism spectrum disorder (ASD). However, the behavioral and genetic architecture of RSB in toddlerhood, when ASD first emerges, has not been fully characterized. We analyzed data from a quantitative video-referenced rating of RSB (vrRSB) in two toddler samples: a community-based volunteer research registry (n = 1,563) and an ethnically diverse, longitudinal twin sample ascertained from two state birth registries (n = 714). Variation in RSB was continuously distributed, temporally stable, significantly associated with ASD risk at age 18 months, and only modestly explained by sociodemographic and medical factors (r2 = 9.4%). Five latent RSB factors were identified and corresponded to aspects of social communication or restricted repetitive behaviors, the two core ASD symptom domains. Quantitative genetic analyses indicated substantial heritability for all factors at age 24 months (h2 ≥ .61). Genetic influences strongly overlapped across all factors, with a social motivation factor showing evidence of newly-emerging genetic influences between the ages of 18 and 24 months. RSB constitutes a heritable, trait-like competency whose factorial and genetic structure is generalized across diverse populations, demonstrating its role as an early, enduring dimension of inherited variation in human social behavior. Substantially overlapping RSB domains, measurable when core ASD features arise and consolidate, may serve as markers of specific pathways to autism and anchors to inform determinants of autism's heterogeneity.


Subject(s)
Autism Spectrum Disorder , Autistic Disorder , Autism Spectrum Disorder/diagnosis , Autism Spectrum Disorder/genetics , Autistic Disorder/genetics , Child Behavior , Child, Preschool , Cognition , Humans , Infant , Social Behavior , Video Recording
6.
J Psychiatr Res ; 114: 153-160, 2019 07.
Article in English | MEDLINE | ID: mdl-31078786

ABSTRACT

Children's perceptions are important to understanding family environment in the bipolar disorder (BD) high-risk context. Our objectives were to empirically derive patterns of offspring-perceived family environment, and to test the association of family environment with maternal or paternal BD accounting for offspring BD and demographic characteristics. Participants aged 12-21 years (266 offspring of a parent with BD, 175 offspring of a parent with no psychiatric history) were recruited in the US and Australia. We modeled family environment using latent profile analysis based on offspring reports on the Conflict Behavior Questionnaire, Family Adaptability and Cohesion Evaluation Scales, and Home Environment Interview for Children. Parent diagnoses were based on the Diagnostic Interview for Genetic Studies and offspring diagnoses were based on the Schedule for Affective Disorders and Schizophrenia for School-Aged Children. Latent class regression was used to test associations of diagnosis and family environment. Two-thirds of all offspring perceived well-functioning family environment, characterized by nurturance, flexibility, and low conflict. Two 'conflict classes' perceived family environments low in flexibility and cohesion, with substantial separation based on high conflict with the father (High Paternal Conflict), or very high conflict and rigidity and low warmth with the mother (High Maternal Conflict). Maternal BD was associated with offspring perceiving High Maternal Conflict (OR 2.8, p = 0.025). Clinical care and psychosocial supports for mothers with BD should address family functioning, with attention to offspring perceptions of their wellbeing. More research is needed on the effect of paternal BD on offspring and family dynamics.


Subject(s)
Bipolar Disorder/etiology , Family/psychology , Adolescent , Bipolar Disorder/genetics , Family Conflict/psychology , Female , Humans , Interview, Psychological , Male , Psychiatric Status Rating Scales , Risk Factors , Social Environment , Surveys and Questionnaires
7.
J Am Acad Child Adolesc Psychiatry ; 58(5): 484-485, 2019 05.
Article in English | MEDLINE | ID: mdl-30768384

ABSTRACT

United States middle- or high-school-age children are taught about the perils of cyber bullying in health classes. They learn that they are at risk of suicide because of online harassment behaviors and that resources are being expanded to prevent, report, or interrupt such bullying. However, the perspective that suicide victims likely have other salient predisposing or precipitating risk factors (eg, summarized comprehensively by Turecki and Brent1) is usually not emphasized simultaneously. In the context of an abundance of studies documenting clear associations between childhood or adolescence adverse experiences and many aspects of health, as reviewed recently in The Lancet Public Health,2 it is not an exaggeration to observe that a crucial axiom of first science classes, correlation is not causation, can be overlooked when a small number of specific adverse events emerges narratively as the major etiologic cause of much of psychopathology, including youth suicide. However, traumatic events, such as youth sexual victimization3 or physical punishment/maltreatment,4 have long been known to correlate to social contexts and/or heritable genotypes, which also might mediate or co-mediate the risk for adverse outcomes. That some methodologic designs are superior to others to disentangle such confounds and examine causation is well known in behavior genetics.5 This was highlighted 2 decades ago, in this very journal, by Dr. Naimah Weinberg of the National Institutes of Health, in an article reviewing the cognitive and behavioral deficits associated with parental alcohol use,6 where she noted the growing field of behavior genetics offers an approach to understanding such complex problems. This is a necessary perspective to move the science of child psychiatry forward.


Subject(s)
Bullying , Crime Victims , Suicide , Adolescent , Child , Cohort Studies , Female , Humans , Parents , United States
8.
J Am Acad Child Adolesc Psychiatry ; 58(3): 317-318, 2019 03.
Article in English | MEDLINE | ID: mdl-30768410

ABSTRACT

The comorbidity of depression and anxiety is a major global health problem. A 2015 report examining response patterns of 74,000 adults across 27 World Mental Health surveys in 24 countries showed a very high comorbidity between a diagnosis of lifetime DSM-IV1 major depressive disorder and a diagnosis of any anxiety disorder in the past 12 months or lifetime anxiety disorder at similar rates in high-income and mid- to low-income countries. In addition, the report highlighted that almost 70% of people with lifetime depression and anxiety first developed anxiety and that the course and burden of lifetime depression comorbid with anxiety was usually more impairing than depression without anxiety.2.


Subject(s)
Depression , Depressive Disorder, Major/epidemiology , Adolescent , Adult , Anxiety , Anxiety Disorders/epidemiology , Comorbidity , Diagnostic and Statistical Manual of Mental Disorders , Follow-Up Studies , Humans
9.
Psychiatry Res ; 274: 49-57, 2019 04.
Article in English | MEDLINE | ID: mdl-30780062

ABSTRACT

Melatonin secretion and polysomnography (PSG) were compared among a group of healthy adolescents who were at high familial risk for bipolar disorder (HR) and a second group at low familial risk (LR). Adolescent participants (n = 12) were a mean age 14 ± 2.3 years and included 8 females and 4 males. Saliva samples were collected under standardized condition light (red light) and following a 200 lux light exposure over two consecutive nights in a sleep laboratory. Red Light Melatonin onset (RLMO) was defined as saliva melatonin level exceeding the mean of the first 3 readings plus 2 standard deviations. Polysomnography was also completed during each night. HR youth, relative to LR, experienced a significantly earlier melatonin onset following 200 lux light exposure. Polysomnography revealed that LR youth, relative to HR, spent significantly more time in combined stages 3 and 4 (deep sleep) following red light exposure. Additionally, regardless of the group status (HR or LR), there was no significant difference in Red Light Melatonin Onset recorded at home or in the laboratory, implying its feasibility and reliability.


Subject(s)
Bipolar Disorder/diagnosis , Bipolar Disorder/metabolism , Genetic Predisposition to Disease , Melatonin/metabolism , Photic Stimulation/methods , Saliva/metabolism , Adolescent , Adult , Biomarkers/chemistry , Biomarkers/metabolism , Bipolar Disorder/genetics , Child , Circadian Rhythm/physiology , Female , Genetic Predisposition to Disease/genetics , Humans , Male , Polysomnography/trends , Reproducibility of Results , Saliva/chemistry , Sleep/physiology , Sleep Disorders, Circadian Rhythm/diagnosis , Sleep Disorders, Circadian Rhythm/genetics , Sleep Disorders, Circadian Rhythm/metabolism
10.
J Abnorm Child Psychol ; 47(2): 369-379, 2019 02.
Article in English | MEDLINE | ID: mdl-29546561

ABSTRACT

Previous research has suggested that behavioral comorbidity is the rule rather than the exception in autism. The present study aimed to trace the respective origins of autistic and general psychopathologic traits-and their association-to infancy. Measurements of autistic traits and early liability for general psychopathology were assessed in 314 twins at 18 months, ascertained from the general population using birth records. 222 twins were re-evaluated at 36 months. Standardized ratings of variation in social communication at 18 months were highly heritable and strongly predicted autistic trait scores at 36 months. These early indices of autistic liability were independent from contemporaneous ratings of behavior problems on the Brief Infant-Toddler Social and Emotional Assessment (which were substantially environmentally-influenced), and did not meaningfully predict internalizing or externalizing scores on the Achenbach Scales of Empirically Based Assessment at 36 months. In this general population infant twin study, variation in social communication was independent from variation in other domains of general psychopathology, and exhibited a distinct genetic structure. The commonly-observed comorbidity of specific psychiatric syndromes with autism may arise from subsequent interactions between autistic liability and independent susceptibilities to other psychopathologic traits, suggesting opportunities for preventive amelioration of outcomes of these interactions over the course of development.


Subject(s)
Autism Spectrum Disorder/physiopathology , Behavioral Symptoms/physiopathology , Autism Spectrum Disorder/epidemiology , Behavioral Symptoms/epidemiology , Child, Preschool , Communication , Comorbidity , Female , Genetic Predisposition to Disease , Humans , Infant , Male , Missouri/epidemiology , Social Behavior
11.
J Vis Exp ; (133)2018 03 14.
Article in English | MEDLINE | ID: mdl-29608153

ABSTRACT

Reciprocal social behavior (RSB), an early-emerging capacity to engage in social contingency-which is foundational for both social learning and social competency-is hypothesized to be disrupted in autism spectrum disorder (ASD). The ability to quantify the full range of RSB during the toddler period, when core symptoms of ASD often arise, is pivotal for evaluating early risk for ASD, characterizing social development, and tracking response to early interventions. However, important parameters of variation in RSB-especially prior to the development of verbal language-can be nuanced and difficult to characterize using questionnaire-based methods. To address this challenge, we developed a system for measuring quantitative variation in RSB in toddlers (ages 18 - 30 months) that incorporated not only standard questionnaire data from caregivers but also a novel set of video-referenced items, through which a respondent compares the behavior of a subject to that observed in a short video of a young child manifesting a highly competent level of social communication. Testing of this measure in a general population sample of twins confirmed that both the video-referenced items and the RSB Total Score (video-referenced items plus non-video-referenced items) displayed unimodal, continuous distributions, strong internal consistency, marked preservation of individual differences, and extremely high heritability. In addition, video-referenced items were particularly sensitive to quantifying incremental changes in social communication, a major element of RSB, over the course of early childhood development. Scores on the vrRSB clearly differentiated children with and without ASD and these data comprise an initial validation of this promising method for quantifying early RSB-cross-sectionally, over time, and as a function of early intervention.


Subject(s)
Child Development/physiology , Communication , Social Behavior , Videotape Recording/methods , Child, Preschool , Female , Humans , Infant , Male , Surveys and Questionnaires
12.
J Am Acad Child Adolesc Psychiatry ; 56(12): 1073-1080, 2017 Dec.
Article in English | MEDLINE | ID: mdl-29173741

ABSTRACT

OBJECTIVE: Bipolar disorder (BD) is one of the most heritable psychiatric conditions and is associated with high suicide risk. To explore the reasons for this link, this study examined the interaction between traumatic stress and BD polygenic risk score in relation to suicidal ideation, suicide attempt, and nonsuicidal self-injury (NSSI) in adolescent and young adult offspring and relatives of persons with BD (BD-relatives) compared with adolescent and young adult offspring of individuals without psychiatric disorders (controls). METHOD: Data were collected from 4 sites in the United States and 1 site in Australia from 2006 through 2012. Generalized estimating equation models were used to compare rates of ideation, attempts, and NSSI between BD-relatives (n = 307) and controls (n = 166) and to determine the contribution of demographic factors, traumatic stress exposure, lifetime mood or substance (alcohol/drug) use disorders, and BD polygenic risk score. RESULTS: After adjusting for demographic characteristics and mood and substance use disorders, BD-relatives were at increased risk for suicidal ideation and attempts but not for NSSI. Independent of BD-relative versus control status, demographic factors, or mood and substance use disorders, exposure to trauma within the past year (including bullying, sexual abuse, and domestic violence) was associated with suicide attempts (p = .014), and BD polygenic risk score was marginally associated with attempts (p = .061). Importantly, the interaction between BD polygenic risk score and traumatic event exposures was significantly associated with attempts, independent of demographics, relative versus control status, and mood and substance use disorders (p = .041). CONCLUSION: BD-relatives are at increased risk for suicide attempts and ideation, especially if they are exposed to trauma and have evidence of increased genetic vulnerability.


Subject(s)
Bipolar Disorder/genetics , Bipolar Disorder/psychology , Genetic Predisposition to Disease , Psychological Trauma/genetics , Psychological Trauma/psychology , Self-Injurious Behavior/genetics , Self-Injurious Behavior/psychology , Adolescent , Bipolar Disorder/diagnosis , Case-Control Studies , Child , Female , Follow-Up Studies , Humans , Male , Models, Statistical , Polymorphism, Single Nucleotide , Psychiatric Status Rating Scales , Psychological Trauma/diagnosis , Retrospective Studies , Risk Assessment , Risk Factors , Self-Injurious Behavior/diagnosis , Suicidal Ideation , Suicide, Attempted/psychology , Young Adult
13.
Compr Psychiatry ; 78: 130-139, 2017 10.
Article in English | MEDLINE | ID: mdl-28843850

ABSTRACT

BACKGROUND: Adults with bipolar disorder (BD) have higher rates of substance use disorders (SUDs) compared to the general population. SUD rates in young offspring/relatives of BD probands, as well as factors which drive those rates, are not as well-characterized. METHODS: We aimed to examine SUD prevalence among adolescent/young adult offspring and relatives of probands with and without BD. Data were collected from five sites in the US and Australia during 2006-2011. Youth offspring/relatives ("Relatives of BD probands;" n=267; mean age=16.8years; ±2.9S.D.), identified through a proband family member with DSM-IV BD (Type I or II), were compared to offspring/relatives of control probands ("relatives of control probands;" n=149; mean age=17.4years; ±2.9S.D.). Logistic regression with generalized estimating equations was used to compare the groups across a range of substance use and SUD variables. Odds ratios were calculated for lifetime prevalence of substance outcomes. RESULTS: Bivariate analyses showed DSM-IV SUDs were more prevalent among relatives of BD probands than among relatives of control probands (29% vs. 18%; p=0.01). Generalized estimating equation models showed BD mood and childhood-onset externalizing disorders in adolescent and young adult relatives to each significantly increase the odds (OR=2.80-3.17; p<0.02) for the development of several substance variables among all relatives, whereas the risk of SUDs in relatives was not increased when the relatives had no mood or externalizing disorders themselves. CONCLUSION: Relatives of BD probands with lifetime mood and externalizing disorders report more substance use/SUDs than relatives of control probands. In contrast, SUD outcomes in relatives of BD probands without mood or externalizing disorders were no different from control relatives without psychopathology. Early recognition and treatment of psychiatric disorders may lead to less substance use in this highly vulnerable population.


Subject(s)
Bipolar Disorder/psychology , Family/psychology , Substance-Related Disorders/epidemiology , Adolescent , Australia/epidemiology , Case-Control Studies , Child , Female , Humans , Male , Prevalence , Risk Factors , Young Adult
14.
Nature ; 547(7663): 340-344, 2017 07 20.
Article in English | MEDLINE | ID: mdl-28700580

ABSTRACT

Long before infants reach, crawl or walk, they explore the world by looking: they look to learn and to engage, giving preferential attention to social stimuli, including faces, face-like stimuli and biological motion. This capacity-social visual engagement-shapes typical infant development from birth and is pathognomonically impaired in children affected by autism. Here we show that variation in viewing of social scenes, including levels of preferential attention and the timing, direction and targeting of individual eye movements, is strongly influenced by genetic factors, with effects directly traceable to the active seeking of social information. In a series of eye-tracking experiments conducted with 338 toddlers, including 166 epidemiologically ascertained twins (enrolled by representative sampling from the general population), 88 non-twins with autism and 84 singleton controls, we find high monozygotic twin-twin concordance (0.91) and relatively low dizygotic concordance (0.35). Moreover, the characteristics that are the most highly heritable, preferential attention to eye and mouth regions of the face, are also those that are differentially decreased in children with autism (χ2 = 64.03, P < 0.0001). These results implicate social visual engagement as a neurodevelopmental endophenotype not only for autism, but also for population-wide variation in social-information seeking. In addition, these results reveal a means of human biological niche construction, with phenotypic differences emerging from the interaction of individual genotypes with early life experience.


Subject(s)
Attention , Autistic Disorder/genetics , Autistic Disorder/physiopathology , Child Development , Face , Fixation, Ocular/genetics , Interpersonal Relations , Autistic Disorder/psychology , Child, Preschool , Endophenotypes , Eye , Face/anatomy & histology , Female , Humans , Infant , Male , Mouth , Siblings , Twins, Dizygotic/genetics , Twins, Monozygotic/genetics
15.
JAMA Psychiatry ; 74(2): 160-161, 2017 02 01.
Article in English | MEDLINE | ID: mdl-27926744
18.
Alcohol Clin Exp Res ; 39(11): 2134-42, 2015 Nov.
Article in English | MEDLINE | ID: mdl-26463647

ABSTRACT

BACKGROUND: Self-harm has considerable societal and economic costs and has been extensively studied in relation to alcohol involvement. Although early onset alcohol use (EAU) has been causally linked to maladaptive clinical outcomes, its association with self-harm is less well characterized. This study aimed to further examine the link between EAU and both nonsuicidal self-injury (NSSI) and suicide attempt (SA), and elucidate shared familial and causal/individual-specific pathways that explain this co-occurrence. METHODS: Using data from 6,082 Australian same-sex twin pairs (1,732 monozygotic [MZ] and 1,309 dizygotic [DZ]), ages 23 to 40, we examined prevalence rates of NSSI and SA among twin pairs concordant and discordant for EAU. Conditional logistic regression, controlling for early clinical covariates and the influence of zygosity on EAU, was used to examine the odds ratio (OR) of self-harm within twin pairs discordant for EAU. RESULTS: Prevalence rates of both NSSI and SA were highest among twin pairs concordant for EAU and for twins who reported EAU within discordant twin pairs. Results from discordant twin analyses revealed nearly 4-fold increased odds of SA for the twin who endorsed EAU, and this OR was equal across MZ and DZ twins. EAU also was associated with elevated odds of NSSI (OR = 7.62), although this was only the case for DZ twins in discordant pairs. CONCLUSIONS: The equivalent increase in odds of SA for both MZ and DZ twins suggests that causal or individual-specific influences explain the link between EAU and SA. For NSSI, elevated odds for DZ twins and nonsignificant findings for MZ twins implicate correlated genetic factors in the association between EAU and NSSI. Future studies should test mechanisms through which EAU may causally influence SA, as well as examine whether genetic risk for third variables (e.g., negative urgency, stress reactivity) may explain the genetic overlap between EAU and NSSI.


Subject(s)
Alcohol Drinking/epidemiology , Risk-Taking , Self-Injurious Behavior/epidemiology , Twins, Dizygotic , Twins, Monozygotic , Adult , Age Factors , Alcohol Drinking/adverse effects , Alcohol Drinking/genetics , Australia/epidemiology , Cohort Studies , Cross-Sectional Studies , Female , Humans , Male , Retrospective Studies , Risk Factors , Self-Injurious Behavior/genetics , Twins, Dizygotic/genetics , Twins, Monozygotic/genetics , Young Adult
19.
Am J Med Genet B Neuropsychiatr Genet ; 168(7): 617-29, 2015 Oct.
Article in English | MEDLINE | ID: mdl-26178159

ABSTRACT

Recent studies have revealed the polygenic nature of bipolar disorder (BP), and identified common risk variants associated with illness. However, the role of common polygenic risk in multiplex families has not previously been examined. The present study examined 249 European-ancestry families from the NIMH Genetics Initiative sample, comparing subjects with narrowly defined BP (excluding bipolar II and recurrent unipolar depression; n = 601) and their adult relatives without BP (n = 695). Unrelated adult controls (n = 266) were from the NIMH TGEN control dataset. We also examined a prospective cohort of young (12-30 years) offspring and siblings of individuals with BPI and BPII disorder (at risk; n = 367) and psychiatrically screened controls (n = 229), ascertained from five sites in the US and Australia and assessed with standardized clinical protocols. Thirty-two disease-associated SNPs from the PGC-BP Working Group report (2011) were genotyped and additive polygenic risk scores (PRS) derived. We show increased PRS in adult cases compared to unrelated controls (P = 3.4 × 10(-5) , AUC = 0.60). In families with a high-polygenic load (PRS score ≥32 in two or more subjects), PRS distinguished cases with BPI/SAB from other relatives (P = 0.014, RR = 1.32). Secondly, a higher PRS was observed in at-risk youth, regardless of affected status, compared to unrelated controls (GEE-χ(2) = 5.15, P = 0.012). This report is the first to explore common polygenic risk in multiplex families, albeit using only a small number of robustly associated risk variants. We show that individuals with BP have a higher load of common disease-associated variants than unrelated controls and first-degree relatives, and illustrate the potential utility of PRS assessment in a family context.


Subject(s)
Bipolar Disorder/genetics , Adolescent , Adult , Case-Control Studies , Child , Family , Female , Genetic Association Studies , Genetic Predisposition to Disease , Genome-Wide Association Study , Humans , Male , Middle Aged , Multifactorial Inheritance , Pedigree , Polymorphism, Single Nucleotide , Prospective Studies , Risk Factors , Young Adult
20.
J Child Psychol Psychiatry ; 56(12): 1338-46, 2015 Dec.
Article in English | MEDLINE | ID: mdl-25677414

ABSTRACT

BACKGROUND: Reciprocal social behavior (RSB) is a developmental prerequisite for social competency, and deficits in RSB constitute a core feature of autism spectrum disorder (ASD). Although clinical screeners categorically ascertain risk of ASD in early childhood, rapid methods for quantitative measurement of RSB in toddlers are not yet established. Such measurements are critical for tracking developmental trajectories and incremental responses to intervention. METHODS: We developed and validated a 20-min video-referenced rating scale, the video-referenced rating of reciprocal social behavior (vrRSB), for untrained caregivers to provide standardized ratings of quantitative variation in RSB. Parents of 252 toddler twins [Monozygotic (MZ) = 31 pairs, Dizygotic (DZ) = 95 pairs] ascertained through birth records, rated their twins' RSB at two time points, on average 6 months apart, and completed two developmental measures, the Modified Checklist for Autism in Toddlers (M-CHAT) and the MacArthur Communicative Development Inventory Short Form (MCDI-s). RESULTS: Scores on the vrRSB were fully continuously distributed, with excellent 6-month test-retest reliability ([intraclass correlation coefficient] ICC = 0.704, p < .000). MZ twins displayed markedly greater trait concordance than DZ twins, (MZ ICC = 0.863, p < .000, DZ ICC = 0.231, p < .012). VrRSB score distributions were highly distinct for children passing versus failing the M-CHAT (t = -8.588, df = 31, p < .000), incrementally improved from 18-24 months, and were inversely correlated with receptive and expressive vocabulary on the MCDI-s. CONCLUSIONS: Like quantitative autistic trait ratings in school-aged children and adults, toddler scores on the vrRSB are continuously distributed and appear highly heritable. These ratings exhibited minimal measurement error, high inter-individual stability, and developmental progression in RSB as children matured from 18-24 months, supporting their potential utility for serially quantifying the severity of early autistic syndromes over time and in response to intervention. In addition, these findings inform the genetic-environmental structure of RSB in early typical development.


Subject(s)
Child Behavior/physiology , Child Development/physiology , Neuropsychological Tests/standards , Psychometrics/instrumentation , Social Behavior , Child, Preschool , Female , Humans , Infant , Male
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