ABSTRACT
OBJECTIVE: To identify hospital and primary care health service use among people with mental health conditions or addictions in an integrated primary-secondary care database in Toronto, Ontario. METHOD: This was a retrospective cohort study of adults with mental health diagnoses using data from the Health Databank Collaborative (HDC), a primary care-hospital linked database in Toronto. Data were included up to March 31st 2019. Negative binomial and logistic regression were used to evaluate associations between health care utilization and various patient characteristics and mental health diagnoses. RESULTS: 28,482 patients age 18 or older were included. The adjusted odds of at least one mental health diagnosis were higher among younger patients (18-30 years vs. 81+years aOR = 1.87; 95% CI:1.68-2.08) and among female patients (aOR = 1.35; 95% CI: 1.27-1.42). Patients with one or more mental health diagnoses had higher adjusted rates of hospital visits compared to those without any mental health diagnosis including addiction (aRR = 1.74, 95% CI: 1.58-1.91) and anxiety (aRR = 1.28, 95% CI: 1.23-1.32). 14.5% of patients with a psychiatric diagnosis were referred to the hospital for specialized psychiatric services, and 38% of patients referred were eventually seen in consultation. The median wait time from the date of referral to the date of consultation was 133 days. CONCLUSIONS: In this community, individuals with mental health diagnoses accessed primary and hospital-based health care at greater rates than those without mental health diagnoses. Wait times for specialized psychiatric care were long and most patients who were referred did not have a consultation. Information about services for patients with mental health conditions can be used to plan and monitor more integrated care across sectors, and ultimately improve outcomes.
Subject(s)
Mental Disorders , Mental Health , Adolescent , Adult , Emergency Service, Hospital , Female , Humans , Male , Mental Disorders/epidemiology , Ontario/epidemiology , Retrospective StudiesABSTRACT
Filial piety involves the Confucian view that children always have a duty to be obedient and to provide care for their parents. Filial piety has been described as both a risk and a protective factor in depression and suicide. This qualitative study aimed to explore the role of filial piety in the suicidal behavior of Chinese women. Qualitative interviews were conducted with Chinese women with a history of suicidal behavior living in the Beijing area (n = 29). Filial piety data were extracted and analyzed in accordance with constructivist grounded theory. The women described five specific family and filial piety factors and how they influenced their ability to fulfill family role obligations, which was described as a nexus connecting these factors to depression, suicidal behavior, and recovery. The five factors were: 1) rigidity of parental filial expectations, 2) perception of family relationships as positive/supportive or negative/harsh, 3) whether filial piety is of high or low personal value in the woman's life, 4) any experiences of rebellion leading to punitive consequences, and 5) how much filial piety she receives from her children. These factors could inform suicide risk assessments in this population. They can be harnessed as part of recovery and protect against future suicidal behavior.
Subject(s)
Parents , Suicidal Ideation , Asian People , Child , China , Female , Humans , Parent-Child Relations , Protective FactorsABSTRACT
INTRODUCTION: Mental health conditions like depression and anxiety are on the rise, but access to care remains a challenge. Immigrants and racialized communities including Chinese Canadians experience high level of access barriers including communication with clinicians. With the aim to facilitate mental health communications, we tested an Interactive Computer-assisted Client Assessment Survey (iCCAS) in Cantonese/Mandarin and English at a nurse practitioner-led primary care clinic in Toronto. The iCCAS offers a touch-screen, pre-consultation survey with questions on depression, anxiety, post-traumatic stress, alcohol abuse, and social context. The program generates point-of-care reports for the clinician and patient. METHODS: A pilot randomized controlled trial examined the intervention impact on mental health discussion and symptom detection, compared with the usual care, followed by clinicians' qualitative interviews. RESULTS: Fifty self-identified Chinese adult patients participated (iCCAS = 26, Usual Care = 24), response rate 79.4%. Participant mean age was 44.8 years and 92% were immigrants. There was an increase of 19% and 15% in the mental health discussion and detection of symptoms in the iCCAS group compared with the usual care. More participants in the iCCAS group were referred to a social worker or psychiatrist. Patients found the use of iCCAS easy and clinicians identified its benefits for themselves (eg, early identification and comfort) and patients (eg, self-awareness and anonymity) and proposed practice-integration. DISCUSSION: The studied tool holds promise for enhancing clinician-patient mental health communications in primary care settings for overseas Chinese. Implications are discussed for in-person and virtual healthcare which could also inform responses to mental health crisis related to COVID-19.
Subject(s)
COVID-19 , Nurse Practitioners , Adult , Canada , China , Humans , Mental Health , Pilot Projects , Primary Health Care , SARS-CoV-2ABSTRACT
PURPOSE: For many persons worldwide, mental health is inseparably linked with spirituality and religion (S&R), yet psychiatrists have repeatedly expressed doubts regarding their preparedness to address patients' spirituality or religion appropriately. In recent decades, medical educators have developed and implemented curricula for teaching S&R-related competencies to psychiatry residents. The authors reviewed the literature to understand the scope and effectiveness of these educational initiatives. METHOD: The authors searched 8 databases to identify studies for a scoping review and a systematic review. The scoping review explored educational approaches (topics, methods) used in psychiatry residency programs to teach S&R-related competencies. The systematic review examined changes in psychiatry trainees' competencies and/or in patient outcomes following exposure to these educational interventions. RESULTS: Twelve studies met criteria for inclusion in the scoping review. All reported providing residents with both (1) a general overview of the intersections between mental health and S&R and (2) training in relevant interviewing and assessment skills. Seven of these studies-representing an estimated 218 postgraduate psychiatry trainees and at least 84 patients-were included in the systematic review. Residents generally rated themselves as being more competent in addressing patients' S&R-related concerns following the trainings. One randomized controlled trial found that patients with severe mental illness who were treated by residents trained in S&R-related competencies attended more appointments than control patients. CONCLUSIONS: S&R-related educational interventions appeared generally well tolerated and appreciated by psychiatry trainees and their patients; however, some topics (e.g., Alcoholics Anonymous) received infrequent emphasis, and some experiential teaching methodologies (e.g., attending chaplaincy rounds) were less frequently used for psychiatry residents than for medical students. The positive association between teaching S&R-related competencies to psychiatry residents and patient appointment attendance merits further study. Future trainings should supplement classroom learning with experiential approaches and incorporate objective measures of resident competence.
Subject(s)
Internship and Residency , Psychiatry/education , Religion , Spirituality , Students, Medical , Curriculum , Education, MedicalABSTRACT
A cross-national qualitative suicide study was conducted by Tsinghua University and the University of Toronto with two samples of Chinese women in Beijing and Toronto. The aim of this article is to reflect on lessons learned from this collaborative study. A literature review guided the analysis. A focus group was conducted with members of both research teams. A semi-structured interview guide was developed to explore the researchers' experiences of participating in the cross-national study. Focus group transcript data and observations from authors informed the analysis, situated in the existing literature on cross-national qualitative health research and guided by Baistow's cross-national research frame. Our study highlights how cross-national research involves conceptual and practical challenges that require negotiation. Such research also holds many opportunities, including (1) using a different cultural lens to understand differences and clarify similarities cross-culturally; (2) co-constructing knowledge through collaboration; (3) deconstructing one's own assumptions; and (4) engaging in an inspiring and empowering experience in collaboration.
Subject(s)
International Cooperation , Research , Suicide , Canada , China , Focus Groups , Humans , Qualitative Research , Research/organization & administrationABSTRACT
Health is a state of complete physical, mental, and social well-being and not merely the absence of disease or infirmity. The multifaceted intertwined nature of optimal health, mental health, and well-being requires operational, sustainable interdisciplinary partnerships in order to improve personal and global well-being and happiness. The initial step must be the assessment of the nature and magnitude of local problems in the global context. The WHO annual reports may be an adequate departure point as they can demonstrate the global nature of stressful situations and their association with physical and mental stress-related disorders. Therein, mental health professionals should spearhead change and progress. Attitudes need to be pro-active and partnerships are essential. Pertinent data should be evaluated by local experts who will determine the needs and how best to face them and achieve solutions. Hopefully, common regional denominators will lead to the formation of Regional Interdisciplinary Collaborative Alliances (RICAs) who will share needed resources and focus particularly on vulnerable populations. The RICAs would be supported by experts and technological facilities located in developed economy centers. The long-term goal is to turn the concept of pursuit of happiness into a well-perceived reality.
Subject(s)
Global Health , Intersectoral Collaboration , Mental Health , HumansABSTRACT
OBJECTIVE: Most suicidality literature in Huntington disease (HD) is based on natural history studies or retrospective reviews, but reports on risk factors from clinical trials are limited. METHODS: We analyzed 609 participants from 2CARE, a randomized, double-blind, placebo-controlled clinical trial with up to 5 years of follow-up, for risk factors related to suicidality. The primary outcome variable was the time from randomization until the first occurrence of either suicidal ideation or attempt. We also considered time from randomization until the first suicide attempt as a secondary outcome variable. RESULTS: Depression, anxiety, bipolar disorder, antidepressant or anxiolytic use, and prior suicide attempt at baseline were associated with time to ideation or attempt. Baseline employment status, marital status, CAG repeat length, tetrabenazine use, and treatment assignment (coenzyme Q10 or placebo) were not associated with suicidality. Time-dependent variables from the Unified Huntington's Disease Rating Scale Behavioral Assessment were associated with time to suicidal ideation or attempt, driven mainly by items related to depressed mood, low self-esteem/guilt, anxiety, suicidal thoughts, irritability, and compulsions. Variables associated with time to suicide attempt alone were generally similar. CONCLUSION: These data suggest psychiatric comorbidities in HD are predictive of suicidal behavior while participating in clinical trials, reinforcing the importance of clinical surveillance and treatment towards lessening risk during participation and perhaps beyond. Designing a composite algorithm for early prediction of suicide attempts in HD may be of value, particularly given anticipated trials aimed at disease modification are likely to be long-term. CLINICALTRIALSGOV IDENTIFIER: NCT00608881.
Subject(s)
Huntington Disease/epidemiology , Suicidal Ideation , Suicide, Attempted/statistics & numerical data , Adrenergic Uptake Inhibitors/therapeutic use , Adult , Anti-Anxiety Agents/therapeutic use , Antidepressive Agents/therapeutic use , Anxiety Disorders/drug therapy , Anxiety Disorders/epidemiology , Bipolar Disorder/epidemiology , Depressive Disorder/drug therapy , Depressive Disorder/epidemiology , Employment , Female , Humans , Huntingtin Protein/genetics , Huntington Disease/drug therapy , Huntington Disease/psychology , Male , Marital Status , Middle Aged , Randomized Controlled Trials as Topic , Risk Factors , Tetrabenazine/therapeutic use , Trinucleotide Repeat Expansion , Ubiquinone/analogs & derivatives , Ubiquinone/therapeutic use , Vitamins/therapeutic useABSTRACT
This qualitative study explored the experiences and patterns of recovery of Chinese-born women living in Canada with a history of suicidal behaviour. It explores a number of dimensions of recovery including clinical, existential, functional, physical, and social. The women described engaging in "survival" recovery in the short term and "thriving" recovery in the long term, with survival strategies extending into the thriving phase of recovery during their complex path to it. The survival recovery phase included accessing culturally sensitive mental health care and obtaining social and instrumental support to help ensure safety, manage stress, and treat psychiatric symptoms. The thriving phase of recovery was described as involving six components: developing an explanatory model with their health care provider; undertaking a process of narrative reflection and prioritizing self-care; engaging in interdisciplinary care team support; engaging the support of family and friends; exploring spiritual and existential supports; and creating goals for the future and a sense of mastery. Through these six avenues, the women began to experience a sense of self-efficacy and agency that improved their ability to cope with stress and pressure, leading to building a life with meaning. The interviews provided insights into how clinical care can be improved and how practitioners can implement a more recovery-oriented approach to practice.
Subject(s)
Adaptation, Psychological , Bipolar Disorder/rehabilitation , Depressive Disorder, Major/rehabilitation , Social Support , Suicide Prevention , Adult , Asian People , Bipolar Disorder/psychology , Canada , Depressive Disorder, Major/psychology , Family , Female , Humans , Interviews as Topic , Middle Aged , Qualitative Research , Young AdultABSTRACT
People with serious mental illness die 10-25 years sooner than people without these conditions. Multiple challenges to accessing and benefitting from healthcare have been identified amongst this population, including a lack of coordination between mental health services and general health services. It has been identified in other conditions such as diabetes that accurate documentation of diagnosis in the primary care chart is associated with better quality of care. It is suspected that if a patient admitted to the hospital with serious mental illness is then discharged without adequate identification of their diagnosis in the primary care setting, follow up (such as medication management and care coordination) may be more difficult. We identified cohorts of patients with schizophrenia and bipolar disorder who accessed care through the North York Family Health Team (a group of 77 family physicians in Toronto, Canada) and North York General Hospital (a large community hospital) between January 1, 2012 and December 31, 2014. We identified whether labeling for these conditions was concordant between the two settings and explored predictors of concordant labeling. This was a retrospective cross-sectional study using de-identified data from the Health Databank Collaborative, a linked primary care-hospital database. We identified 168 patients with schizophrenia and 370 patients with bipolar disorder. Overall diagnostic concordance between primary care and hospital records was 23.2% for schizophrenia and 15.7% for bipolar disorder. Concordance was higher for those with multiple (2+) inpatient visits (for schizophrenia: OR 2.42; 95% CI 0.64-9.20 and for bipolar disorder: OR 8.38; 95% CI 3.16-22.22). Capture-recapture modeling estimated that 37.4% of patients with schizophrenia (95% CI 20.7-54.1) and 39.6% with bipolar disorder (95% CI 25.7-53.6) had missing labels in both settings when adjusting for patients' age, sex, income quintiles and co-morbidities. In this sample of patients accessing care at a large family health team and community hospital, concordance of diagnostic information about serious mental illness was low. Interventions should be developed to improve diagnosis and continuity of care across multiple settings.
Subject(s)
Bipolar Disorder/diagnosis , Patient Discharge/statistics & numerical data , Primary Health Care/statistics & numerical data , Schizophrenia/diagnosis , Adolescent , Adult , Bipolar Disorder/therapy , Continuity of Patient Care/statistics & numerical data , Cross-Sectional Studies , Electronic Health Records/statistics & numerical data , Female , Hospital Records/statistics & numerical data , Humans , Male , Middle Aged , Ontario , Retrospective Studies , Schizophrenia/therapy , Young AdultABSTRACT
Despite the increasing presence of Chinese communities in the West, their experiences of depression and the variations in symptoms or presentation are not well understood. Using Arksey and O'Malley's methodical framework, we conducted a scoping review of the published literature, using electronic databases MEDLINE and PsycINFO, and searched for articles published since 1999. Out of 1177 articles identified, 21 met the inclusion criteria. Thematic synthesis revealed valuable scholarly work on (1) depression rates, migration, and contextual determinants, (2) causation beliefs and help seeking, (3) acculturation and symptoms, (4) presenting symptoms and somatization, and (5) culturally sensitive assessment and care. Overall, this review has identified the importance of contextual determinants in the development of depression, low rates of seeking of professional help, subtle variations in somatization, and knowledge gaps in culturally sensitive care. The findings suggest that, rather than treating migration as a cause of mental distress, the accompanying conditions and events need to be further examined and addressed as potential risk or protective factors. Subtle variations in somatization are also evident, and future scholarly work should examine the notion of cultural scripts-namely, that people attend and react to particular experiences in culturally based ways. For this reason (among others), practice models need to develop strategies for culturally sensitive care, such as co-construction of illness narratives and finding common ground. Given the stigma of mental illness and the low level of seeking professional help, the role of primary care should be expanded. Further studies investigating mental health issues beyond depression are also warranted in the studied community.
Subject(s)
Asian People/ethnology , Depressive Disorder/ethnology , Depressive Disorder/physiopathology , Australia/ethnology , Canada/ethnology , China/ethnology , Depressive Disorder/diagnosis , Depressive Disorder/therapy , Humans , New Zealand/ethnology , United Kingdom/ethnology , United States/ethnologyABSTRACT
OBJECTIVES: Huntington disease (HD) is associated with a variety of cognitive deficits, with prominent difficulties in working memory (WM). WM deficits are notably compromised in early-onset and prodromal HD patients. This study aimed to determine the feasibility of a computerized WM training program (Cogmed QM), novel to the HD population. METHODS: Nine patients, aged 26-62, with early stage HD underwent a 25-session (5 days/week for 5 weeks) WM training program (Cogmed QM). Training exercises involved the manipulation and storage of verbal and visuospatial information, with difficulty adapted as a function of individual performance. Neuropsychological testing was conducted before and after training, and performance on criterion WM measures (Digit Span and Spatial Span), near-transfer WM measures (Symbol Span and Auditory WM), and control measures were evaluated. Post-training interviews about patient experience were thematically analyzed using NVivo software. RESULTS: Seven of nine patients demonstrated adherence to the training and completed all sessions within the recommended timeframe of 5 weeks. All adherent patients showed improvement on the Cogmed tasks as defined by the Improvement Index (M = 22.17, SD = 8.84, range = 13-36). All adherent patients reported that they found training helpful (n = 7), and almost all felt that their memory improved (n = 6). Participants also expressed that the training was difficult, sometimes frustrating, and time consuming. CONCLUSIONS: This pilot study provides support for feasibility of computerized WM training in early-stage patients with HD. Results suggest that HD patients perceive benefits of intensive WM training, though a full-scale and controlled intervention project is needed to understand the size of the effect and reliability of changes over time. TRIAL REGISTRATION: ClinicalTrials.gov, Registry number NCT02926820.
Subject(s)
Huntington Disease/physiopathology , Huntington Disease/therapy , Memory, Short-Term , Adult , Feasibility Studies , Female , Humans , Interviews as Topic , Male , Middle Aged , Neuropsychological Tests , Patient ComplianceABSTRACT
BACKGROUND: Research on Internet safety for adolescents has identified several important issues including unwanted exposure to sexual material and sexual solicitation. METHODS: Although individuals with intellectual disabilities often have poor insight and judgment, and may therefore be at risk for Internet dangers, there is surprisingly little published on this topic. RESULTS: To illustrate Internet dangers that adolescents and adults with intellectual disabilities may face, we report composite case vignettes, based on actual clinical cases of adolescents and adults with 22q11.2 deletion syndrome. CONCLUSION: We encourage clinicians to discuss Internet safety in their practice and provide recommendations for future research subjects.
ABSTRACT
There is a growing interest in interprofessional care (IPC) as a way to provide better healthcare. However, it is difficult to evaluate this mode of healthcare delivery because identifying the appropriate measurement tool is a challenge, given the wide diversity in team composition and settings. Adding to this complexity is a key gap in the IPC evaluation research: the client/patient perspective. This perspective has generally not been included in the development of IPC healthcare team evaluations. The authors received a Canadian Institute for Health Research Planning Grant to host a one-day forum with 24 participants from across Canada representing health professions such as social work, medicine, occupational therapy, and physical therapy, in addition to researchers, client/patient advocates, and hospital administrators. The overarching goal of the forum was to create a demonstration project that supports the development of an IPC assessment tool for healthcare teams that includes clients/patients. Using a concept mapping methodology, participants discussed client/patient inclusion in IPC assessments, and through a consensus process, chose a demonstration project for further development.
Subject(s)
Interprofessional Relations , Patient Care Team/standards , Quality Indicators, Health Care , Cooperative Behavior , Group Processes , Health Personnel/psychology , Hospital Administrators/psychology , Humans , Patients/psychology , Research Design , Research Personnel/psychology , Social Workers/psychologyABSTRACT
RATIONALE: Recent studies have highlighted higher rates of suicidal ideation and behaviour and associated themes of gender role stress in Chinese women residing in North America. However, qualitative studies, which privilege their voices in the discourse of suicide prevention and provide insight into their experiences, are lacking. OBJECTIVE: To gain an understanding of the life histories, patterns of distress and constructions of suicide of Chinese-Canadian women with a history of suicidal behaviour. METHODS: Ten women were recruited from four mental health programs in Toronto, Canada and participated in qualitative interviewing and analysis informed by constructivist grounded theory. RESULTS: Chinese-Canadian women describe experiencing "stress" or "pressure" leading to the exacerbation of depressive symptoms. Stress and pressure are managed through a coping strategy of endurance, informed by the cultural conception of "ren". Cultural influences contribute to the manifestation of stress and pressure as somatic symptoms and sleeplessness. Finally, the women describe feeling unable to endure through worsening distress, reaching a "breaking point"; suicidal behaviour is constructed as a strategy to disrupt this cycle. CONCLUSION: This study challenges the binary notion that suicidal behaviour is either a consequence of mental illness or a reaction to interpersonal stress. Rather, the women describe an ingrained pattern of enduring through psychosocial problems without acknowledging worsening anxiety, depressive and physical symptoms. The pattern of endurance also prevents early treatment of these difficulties, resulting in the intensification of symptoms until a breaking point is reached. Knowledge of these patterns and coping strategies can allow for earlier identification and intervention for women at risk to prevent the worsening of distress leading to suicidal thoughts and behaviour.
Subject(s)
Gender Identity , Suicide/psychology , Adaptation, Psychological , Adult , Asian People/ethnology , Asian People/psychology , Canada/ethnology , Depression/complications , Depression/ethnology , Depression/psychology , Emigrants and Immigrants/psychology , Female , Humans , Middle Aged , Qualitative Research , Risk Factors , Stress, Psychological/complications , Stress, Psychological/ethnology , Stress, Psychological/psychology , Suicide/ethnologyABSTRACT
BACKGROUND: Genetic testing in psychiatry promises to improve patient care through advances in personalised medicine. However, there are few clinically relevant examples. AIMS: To determine whether patients with a well-established genetic subtype of schizophrenia show a different response profile to the antipsychotic clozapine than those with idiopathic schizophrenia. METHOD: We retrospectively studied the long-term safety and efficacy of clozapine in 40 adults with schizophrenia, half with a 22q11.2 deletion (22q11.2DS group) and half matched for age and clinical severity but molecularly confirmed to have no pathogenic copy number variant (idiopathic group). RESULTS: Both groups showed similar clinical improvement and significant reductions in hospitalisations, achieved at a lower median dose for those in the 22q11.2DS group. Most common side-effects were similarly prevalent between the two groups, however, half of the 22q11.2DS group experienced at least one rare serious adverse event compared with none of the idiopathic group. Many were successfully retried on clozapine. CONCLUSIONS: Individuals with 22q11.2DS-schizophrenia respond as well to clozapine treatment as those with other forms of schizophrenia, but may represent a disproportionate number of those with serious adverse events, primarily seizures. Lower doses and prophylactic (for example anticonvulsant) management strategies can help ameliorate side-effect risks. This first systematic evaluation of antipsychotic response in a genetic subtype of schizophrenia provides a proof-of-principle for personalised medicine and supports the utility of clinical genetic testing in schizophrenia.
Subject(s)
Antipsychotic Agents/administration & dosage , Clozapine/administration & dosage , Schizophrenia/drug therapy , Adult , Antipsychotic Agents/adverse effects , Clozapine/adverse effects , DiGeorge Syndrome/drug therapy , DiGeorge Syndrome/genetics , Dose-Response Relationship, Drug , Drug Substitution , Female , Hospitalization/statistics & numerical data , Humans , Male , Middle Aged , Myocarditis/chemically induced , Neutropenia/chemically induced , Schizophrenia/genetics , Seizures/chemically induced , Treatment Outcome , Young AdultABSTRACT
Movement abnormalities are frequently reported in children with 22q11.2 deletion syndrome (22q11.2DS), but knowledge in this area is scarce in the increasing adult population. We report on five individuals illustrative of movement disorders and other motor abnormalities in adults with 22q11.2DS. In addition to an increased susceptibility to neuropsychiatric disorders, seizures, and early-onset Parkinson disease, the underlying brain dysfunction associated with 22q11.2DS may give rise to an increased vulnerability to multiple movement abnormalities, including those influenced by medications. Movement abnormalities may also be secondary to treatable endocrine diseases and congenital musculoskeletal abnormalities. We propose that movement abnormalities may be common in adults with 22q11.2DS and discuss the implications and challenges important to clinical practice.
Subject(s)
DiGeorge Syndrome/diagnosis , DiGeorge Syndrome/genetics , Movement Disorders/diagnosis , Movement Disorders/etiology , Phenotype , Adult , Clozapine/adverse effects , DiGeorge Syndrome/complications , Diagnosis, Differential , Female , Humans , Male , Middle Aged , Movement Disorders/complications , Myoclonus/chemically induced , Myoclonus/diagnosis , Parkinsonian Disorders , Patellar Dislocation/complications , Patellar Dislocation/diagnosis , Spinal Cord Compression/complications , Spinal Cord Compression/diagnosis , Tremor , Young AdultABSTRACT
IMPORTANCE: Patients with 22q11.2 deletion syndrome (22q11DS) have an elevated (25%) risk of developing schizophrenia. Recent reports have suggested that a subgroup of children with 22q11DS display a substantial decline in cognitive abilities starting at a young age. OBJECTIVE: To determine whether early cognitive decline is associated with risk of psychotic disorder in 22q11DS. DESIGN, SETTING, AND PARTICIPANTS: Prospective longitudinal cohort study. As part of an international research consortium initiative, we used the largest data set of intelligence (IQ) measurements in patients with 22q11DS reported to date to investigate longitudinal IQ trajectories and the risk of subsequent psychotic illness. A total of 829 patients with a confirmed hemizygous 22q11.2 deletion, recruited through 12 international clinical research sites, were included. Both psychiatric assessments and longitudinal IQ measurements were available for a subset of 411 patients (388 with ≥1 assessment at age 8-24 years). MAIN OUTCOMES AND MEASURES: Diagnosis of a psychotic disorder, initial IQ, longitudinal IQ trajectory, and timing of the last psychiatric assessment with respect to the last IQ test. RESULTS: Among 411 patients with 22q11DS, 55 (13.4%) were diagnosed as having a psychotic disorder. The mean (SD) age at the most recent psychiatric assessment was 16.1 (6.2) years. The mean (SD) full-scale IQ at first cognitive assessment was lower in patients who developed a psychotic disorder (65.5 [12.0]) compared with those without a psychotic disorder (74.0 [14.0]). On average, children with 22q11DS showed a mild decline in IQ (full-scale IQ, 7.04 points) with increasing age, particularly in the domain of verbal IQ (9.02 points). In those who developed psychotic illness, this decline was significantly steeper (P < .001). Those with a negative deviation from the average cognitive trajectory observed in 22q11DS were at significantly increased risk for the development of a psychotic disorder (odds ratio = 2.49; 95% CI, 1.24-5.00; P = .01). The divergence of verbal IQ trajectories between those who subsequently developed a psychotic disorder and those who did not was distinguishable from age 11 years onward. CONCLUSIONS AND RELEVANCE: In 22q11DS, early cognitive decline is a robust indicator of the risk of developing a psychotic illness. These findings mirror those observed in idiopathic schizophrenia. The results provide further support for investigations of 22q11DS as a genetic model for elucidating neurobiological mechanisms underlying the development of psychosis.
Subject(s)
Cognition Disorders/psychology , DiGeorge Syndrome/psychology , Psychotic Disorders/psychology , Adolescent , Age Factors , Child , Chromosomes, Human, Pair 22/genetics , Cognition Disorders/complications , DiGeorge Syndrome/complications , Female , Humans , Intelligence Tests , Male , Neuropsychological Tests , Prospective Studies , Psychotic Disorders/complications , Risk Factors , Young AdultABSTRACT
22q11.2 Deletion syndrome (22q11.2DS) is the most common microdeletion syndrome in humans, estimated to affect up to 1 in 2,000 live births. Major features of this multisystem condition include congenital anomalies, developmental delay, and an array of early- and later-onset medical and psychiatric disorders. Advances in pediatric care ensure a growing population of adults with 22q11.2DS. Informed by an international panel of multidisciplinary experts and a comprehensive review of the existing literature concerning adults, we present the first set of guidelines focused on managing the neuropsychiatric, endocrine, cardiovascular, reproductive, psychosocial, genetic counseling, and other issues that are the focus of attention in adults with 22q11.2DS. We propose practical strategies for the recognition, evaluation, surveillance, and management of the associated morbidities.Genet Med 17 8, 599-609.
Subject(s)
DiGeorge Syndrome/therapy , Adult , Chromosome Deletion , Chromosomes, Human, Pair 22 , DiGeorge Syndrome/diagnosis , DiGeorge Syndrome/genetics , Female , Genetic Testing , Humans , Male , Practice Guidelines as TopicABSTRACT
OBJECTIVE: Chromosome 22q11.2 deletion syndrome is a neurogenetic disorder associated with high rates of schizophrenia and other psychiatric conditions. The authors report what is to their knowledge the first large-scale collaborative study of rates and sex distributions of psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome. The associations among psychopathology, intellect, and functioning were examined in a subgroup of participants. METHOD: The 1,402 participants with 22q11.2 deletion syndrome, ages 668 years, were assessed for psychiatric disorders with validated diagnostic instruments. Data on intelligence and adaptive functioning were available for 183 participants ages 6 to 24 years. RESULTS: Attention deficit hyperactivity disorder (ADHD) was the most frequent disorder in children (37.10%) and was overrepresented in males. Anxiety disorders were more prevalent than mood disorders at all ages, but especially in children and adolescents. Anxiety and unipolar mood disorders were overrepresented in females. Psychotic disorders were present in 41% of adults over age 25. Males did not predominate in psychotic or autism spectrum disorders. Hierarchical regressions in the subgroup revealed that daily living skills were predicted by the presence of anxiety disorders. Psychopathology was not associated with communication or socialization skills. CONCLUSIONS: To the authors' knowledge, this is the largest study of psychiatric morbidity in 22q11.2 deletion syndrome. It validates previous findings that this condition is one of the strongest risk factors for psychosis. Anxiety and developmental disorders were also prevalent. These results highlight the need to monitor and reduce the long-term burden of psychopathology in 22q11.2 deletion syndrome.