Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 44
Filtrar
Más filtros

Bases de datos
País/Región como asunto
Tipo del documento
Intervalo de año de publicación
1.
Artículo en Inglés | MEDLINE | ID: mdl-38511665

RESUMEN

Studies have consistently shown that psychiatric genetic counseling (pGC) helps people with psychiatric conditions by increasing empowerment and self-efficacy, and addressing emotions like guilt. Yet, it is not routinely provided. Genetic counselors and trainees express low confidence in their ability to provide meaningful pGC, especially in the absence of adequate training. Therefore, to address this gap a "Psychiatric Genetic Counseling for Genetic Counselors" (PG4GC) workshop was developed and delivered to 13 groups of participants (primarily qualified genetic counselors and trainees) between 2015 and 2023 (10 workshops were delivered in-person, and three virtually). Participants completed quantitative questionnaires both before and after completing the workshop to assess their comfort, knowledge, behavior, and feeling of being equipped to provide pGC. In total, 232 individuals completed the pre-workshop questionnaire and 154 completed the post-workshop questionnaire. Participants felt more comfortable, knowledgeable, and equipped to provide pGC, and reported being more likely to address psychiatric concerns after the workshop, regardless of whether they were trainees or practicing professionals and whether they completed the workshop in-person or virtually. This study suggests that the PG4GC workshop is an effective educational tool in pGC training that may aid in broader implementation of the service.

2.
J Genet Couns ; 32(1): 68-78, 2023 02.
Artículo en Inglés | MEDLINE | ID: mdl-35913178

RESUMEN

Both empirical data and genetic counselors' clinical experience suggest that patients differ in the extent to which they benefit from genetic counseling (GC). Understanding the origins of these differences could help adapt services to ensure that all patients benefit fully, and potentially inform triage. Although patient personality dimensions and coping styles have been shown to influence outcomes of other psychological interventions, they have remained largely unexplored in relation to GC outcomes. We conducted an exploratory, descriptive study to assess relationships between patient personality dimensions, coping styles, and outcomes of GC. We recruited patients from a psychiatric genetics clinic who had - in the prior 7 years - completed the GC Outcomes Scale (GCOS, a measure of empowerment) immediately prior to, and approximately one month after their appointment, and asked them to complete validated measures of personality and coping style. Interactions between each personality dimension or coping style and GCOS score were assessed using mixed-effects linear regression models. Among the 169 participants, GCOS score increased by an average of 16.48 points (SD = 12.59). Though extraversion, conscientiousness, neuroticism, and all three coping styles significantly predicted GCOS score (p < 0.02), there was no relationship between these variables and time. For example, though a high score on conscientiousness predicted higher GCOS scores, it did not predict greater change in GCOS - people with higher scores on this dimension of personality had higher GCOS scores both pre- and post- GC. These preliminary data suggest that genetic counseling may increase empowerment regardless of personality dimensions and coping styles.


Asunto(s)
Adaptación Psicológica , Asesoramiento Genético , Humanos , Asesoramiento Genético/métodos , Personalidad
3.
Clin Genet ; 102(5): 369-378, 2022 11.
Artículo en Inglés | MEDLINE | ID: mdl-35996207

RESUMEN

22q11.2 deletion is one of the most well-known copy number variants (CNVs) associated with developing a psychiatric condition (e.g., schizophrenia), but there is a growing list of other CNVs which also confer substantial risk for developing psychiatric conditions. With increased use of chromosome microarray and exome sequencing, the frequency with which these CNVs are detected is increasing. While individuals with such CNVs often receive genetic counseling, research shows that associated psychiatric conditions are less often addressed-clinicians tend to focus on the nonpsychiatric manifestations of the CNV. This represents an important service gap for people with these CNVs and their families, as research shows that not only do these families want genetic counseling about psychiatric illness, it can also produce meaningful positive outcomes for people, including increases in empowerment, and self-efficacy. Therefore, there is a need to ensure that individuals with psychiatric condition-associated CNVs are being counseled about these manifestations of their condition in a way that can promote the best outcomes. In this paper we describe the process of providing genetic counseling in two clinical scenarios in which a psychiatric susceptibility CNV is identified: (1) in an individual who has not been diagnosed with a psychiatric condition and (2) in an individual with an established psychiatric condition.


Asunto(s)
Síndrome de DiGeorge , Trastornos Mentales , Esquizofrenia , Variaciones en el Número de Copia de ADN/genética , Asesoramiento Genético , Predisposición Genética a la Enfermedad , Humanos , Trastornos Mentales/genética , Esquizofrenia/diagnóstico , Esquizofrenia/genética
4.
Arch Womens Ment Health ; 25(2): 355-365, 2022 04.
Artículo en Inglés | MEDLINE | ID: mdl-34231053

RESUMEN

Depression during pregnancy affects 10-15% of women, and 5% of women take antidepressants during pregnancy. Clinical guidelines provide recommendations for selective serotonin reuptake inhibitor (SSRI) drug choice and dose based on CYP2D6 and CYP2C19 genotype; however, they are based on evidence from non-pregnant cohorts. This study aimed to test the hypothesis that women with function-altering variants (increased, decreased, or no function) in these pharmacogenes, taking SSRIs prenatally, would have more depression symptoms than women whose pharmacogenetic variants are associated with normal SSRI metabolism. Comprehensive CYP2D6 and CYP2C19 genotyping using a range of methods, including gene copy number analysis, was performed as secondary analyses on two longitudinal cohorts of pregnant women (N = 83) taking the SSRIs paroxetine, citalopram, escitalopram, or sertraline. The Kruskal-Wallis test compared mean depression scores across four predicted metabolizer groups: poor (n = 5), intermediate (n = 10), normal (n = 53), and ultrarapid (n = 15). There were no significant differences between mean depression scores across the four metabolizer groups (H(3) = .73, p = .87, eta-squared = .029, epsilon-squared = .0089). This is the first study of the relationship in pregnancy between CYP2C19 pharmacogenetic variations and depression symptoms in the context of SSRI use. Findings from this initial study do not support the clinical use of pharmacogenetic testing for SSRI use during the second or third trimesters of pregnancy, but these findings should be confirmed in larger cohorts. There is an urgent need for further research to clarify the utility of pharmacogenetic testing for pregnant women, especially as companies offering direct-to-consumer genetic testing expand their marketing efforts.


Asunto(s)
Citocromo P-450 CYP2D6 , Inhibidores Selectivos de la Recaptación de Serotonina , Estudios Transversales , Citocromo P-450 CYP2C19/genética , Citocromo P-450 CYP2D6/genética , Citocromo P-450 CYP2D6/metabolismo , Depresión/diagnóstico , Depresión/tratamiento farmacológico , Femenino , Humanos , Embarazo , Inhibidores Selectivos de la Recaptación de Serotonina/efectos adversos
5.
J Genet Couns ; 31(5): 1071-1079, 2022 10.
Artículo en Inglés | MEDLINE | ID: mdl-35438217

RESUMEN

Though psychiatric genetic counseling has been shown to have meaningful positive impacts on patient outcomes, there is currently only one specialist psychiatric genetic counseling clinic (located in Vancouver, BC). The service is inconsistently offered elsewhere, leaving this patient population largely underserved. In an effort to expand psychiatric genetic counseling, the clinic in Vancouver has been providing specialist internship training to genetic counseling students since 2012. This study explored the impact of the internship training on genetic counseling graduates' careers. Using an interpretive description approach, we recorded and transcribed interviews with past interns. Coding and data analysis were conducted concurrently. The interview guide was iteratively revised through the interview process and memoing was used to record ideas about the data and interviews throughout. From interviews with 15 past interns, we generated a theoretical model-'a fragile dream, easily broken'-describing the impact of the training on participants' careers. Completing an internship in psychiatric genetic counseling positively influenced participants' desire to provide psychiatric genetic counseling; however, most were unable to find work in the subspecialty. Some participants made efforts to create specialist positions for themselves, but setbacks and hurdles left many feeling defeated, resulting in them accepting established roles in other disciplines. We contextualize our findings in a discussion of what may be needed in order to successfully expand psychiatric genetic counseling.


Asunto(s)
Selección de Profesión , Internado y Residencia , Asesoramiento Genético , Humanos
6.
J Genet Couns ; 31(5): 1148-1154, 2022 10.
Artículo en Inglés | MEDLINE | ID: mdl-35484926

RESUMEN

To our knowledge, no studies have yet evaluated whether genetic counseling (GC) outcomes are influenced by the timing of the counseling session in relation to the onset or diagnosis of the condition of interest. We conducted an exploratory retrospective chart review using a database from a psychiatric GC (pGC) clinic, to examine the relationship between GC outcomes and time elapsed between: (a) onset of psychiatric symptoms (time since onset, TSO) and/or (b) psychiatric diagnosis (time since diagnosis, TSD), and the pGC session. Linear regression was used to assess the relationship between change in Genetic Counseling Outcome Scale (GCOS) scores from pre-GC to 1 month post-GC and TSO and/or TSD. Charts of 271 patients (80% women, mean age = 39.9 years old) seen between 2012 and 2018 were included in the analyses. Mean TSO = 19.6 years (range 0-62 years), and mean TSD = 11.1 years (range 0-43 years). Overall, empowerment increased after GC regardless of TSO/TSD (p < 0.0001, d = 1.11). While there was no relationship between GCOS change and TSD, a negative relationship was observed for TSO (p = .032) suggesting better outcomes with shorter TSO, although the effect size was very small (f2  = 0.019). Post hoc analysis revealed this effect was driven by two diagnoses, depression (n = 164, p = 0.013) and schizoaffective disorder (n = 6, p = 0.042). For the former, the effect size was very small (f2  = 0.038) and for the latter, the probability of type 2 error was high. In sum, our data suggest that TSO/TSD plays a negligible role in outcomes of pGC, with patients benefitting from pGC, regardless how long ago symptoms started/diagnosis was made.


Asunto(s)
Asesoramiento Genético , Trastornos Mentales , Adulto , Consejo , Femenino , Humanos , Masculino , Trastornos Mentales/diagnóstico , Estudios Retrospectivos
7.
J Genet Couns ; 31(1): 140-152, 2022 02.
Artículo en Inglés | MEDLINE | ID: mdl-34224608

RESUMEN

Individuals with 22q11.2 deletion syndrome (22qDS) have a 25%-41% risk for a psychotic disorder. Although early intervention for psychiatric conditions leads to the best long-term outcomes, healthcare providers often provide inadequate information about these issues and psychiatric services are underused by this population. We conducted semi-structured interviews with parents of children with 22qDS a month after they received psychiatric genetic counseling (pGC), to evaluate outcomes and perceived value of pGC with respect to parents' needs. Using grounded theory, we generated a theoretical framework of the process of building parental awareness of psychiatric risks associated with 22qDS and protective and management strategies for mental health (MH). Parents described how after their child's diagnosis with 22qDS, a variety of barriers stalled their building awareness of psychiatric risk and protective/management strategies: dealing with the immediate symptoms of 22qDS; child's young age; parental fear and stigma; and missing MH guidance. These barriers led them to carry the burden of worrying over missing emerging psychiatric symptoms and the stress over advocating for their child's MH. Parents indicated pGC was beneficial in that led them to achieve an 'awareness to act,' feeling confident in being alert and equipped to protect and/or manage their child's MH.


Asunto(s)
Síndrome de DiGeorge , Trastornos Psicóticos , Ansiedad , Niño , Síndrome de DiGeorge/epidemiología , Síndrome de DiGeorge/genética , Síndrome de DiGeorge/terapia , Asesoramiento Genético , Humanos , Padres/psicología
8.
BMC Genomics ; 22(1): 180, 2021 Mar 12.
Artículo en Inglés | MEDLINE | ID: mdl-33711921

RESUMEN

BACKGROUND: The ever-increasing prevalence of diabetes and associated comorbidities serves to highlight the necessity of biologically relevant small-animal models to investigate its etiology, pathology and treatment. Although the C57BL/6 J model is amongst the most widely used mouse model due to its susceptibility to diet-induced obesity (DIO), there are a number of limitations namely [1] that unambiguous fasting hyperglycemia can only be achieved via dietary manipulation and/or chemical ablation of the pancreatic beta cells. [2] Heterogeneity in the obesogenic effects of hypercaloric feeding has been noted, together with sex-dependent differences, with males being more responsive. The KK mouse strain has been used to study aspects of the metabolic syndrome and prediabetes. We recently conducted a study which characterized the differences in male and female glucocentric parameters between the KK/HlJ and C57BL/6 J strains as well as diabetes-related behavioral differences (Inglis et al. 2019). In the present study, we further characterize these models by examining strain- and sex-dependent differences in pancreatic and adrenal gene expression using Affymetrix microarray together with endocrine-associated serum analysis. RESULTS: In addition to strain-associated differences in insulin tolerance, we found significant elevations in KK/HlJ mouse serum leptin, insulin and aldosterone. Additionally, glucagon and corticosterone were elevated in female mice of both strains. Using 2-factor ANOVA and a significance level set at 0.05, we identified 10,269 pancreatic and 10,338 adrenal genes with an intensity cut-off of ≥2.0 for all 4 experimental groups. In the pancreas, gene expression upregulated in the KK/HlJ strain related to increased insulin secretory granule biofunction and pancreatic hyperplasia, whereas ontology of upregulated adrenal differentially expressed genes (DEGs) related to cell signaling and neurotransmission. We established a network of functionally related DEGs commonly upregulated in both endocrine tissues of KK/HlJ mice which included the genes coding for endocrine secretory vesicle biogenesis and regulation: PCSK2, PCSK1N, SCG5, PTPRN, CHGB and APLP1. We also identified genes with sex-biased expression common to both strains and tissues including the paternally expressed imprint gene neuronatin. CONCLUSION: Our novel results have further characterized the commonalities and diversities of pancreatic and adrenal gene expression between the KK/HlJ and C57BL/6 J strains as well as differences in serum markers of endocrine physiology.


Asunto(s)
Células Secretoras de Insulina , Insulina , Animales , Femenino , Expresión Génica , Masculino , Ratones , Ratones Endogámicos C57BL , Caracteres Sexuales
9.
J Obstet Gynaecol Can ; 41(9): 1330-1337, 2019 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-31056278

RESUMEN

OBJECTIVE: Although empirical studies investigating its effects are scarce, postpartum placentophagy is increasing in popularity because of purported benefits on mood, energy, lactation, and overall nutrition. Therefore, this study sought to test the hypotheses that women who consumed their placenta (placentophagy exposed [PE]) would have (1) fewer depressive symptoms, (2) more energy, (3) higher vitamin B12 levels, and (4) less pharmaceutical lactation support during the postpartum than women who did not consume their placenta (non-placentophagy exposed [NE]). METHODS: Using data from a large, longitudinal study of gene × environment effects involving perinatal women with a history of mood disorders, the study investigators identified a PE cohort and matched them 4:1 (by psychiatric diagnosis, psychotropic medication use, supplementation, income, and age) with an NE cohort from the same dataset. The study investigated differences between the PE and NE cohorts with respect to scores on the Edinburgh Postnatal Depression Scale and Sleep-Wake Activity Inventory, vitamin B12 levels, and the use of pharmaceutical lactation support (Canadian Taskforce Classification II-2). RESULTS: The sample of 138 women (28 in the PE cohort, matched to 110 in the NE cohort) provided 80% power at α = 0.0125 to detect an effect of moderate magnitude (which can be used to approximate an effect of clinically significant magnitude).There were no differences in Edinburgh Postnatal Depression Scaleor Sleep-Wake Activity Inventory scales (P = 0.28 and P = 0.39, respectively), vitamin B12 levels (P = 0.68), or domperidone use (P = 1) between the PE and NE cohorts. CONCLUSION: These data provide no support for the idea that postpartum placentophagy improves mood, energy, lactation, or plasma vitamin B12 levels in women with a history of mood disorders.


Asunto(s)
Depresión Posparto/epidemiología , Ingestión de Alimentos/fisiología , Placenta/fisiología , Periodo Posparto/fisiología , Vitamina B 12/sangre , Adulto , Estudios de Cohortes , Suplementos Dietéticos , Femenino , Humanos , Lactancia/fisiología , Residuos Sanitarios , Trastornos del Humor/epidemiología , Embarazo , Estudios Retrospectivos
10.
J Genet Couns ; 28(4): 760-766, 2019 08.
Artículo en Inglés | MEDLINE | ID: mdl-30896068

RESUMEN

The psychology literature shows that the physical space in which counseling sessions are conducted influences outcomes of the interaction. However, this phenomenon has not been quantitatively explored in genetic counseling (GC). Through retrospective review of naturalistic data from a psychiatric GC clinic (where data on patient outcomes are routinely tracked from pre- to 1 month post-appointment using the Genetic Counseling Outcome Scale (GCOS, empowerment) and the Illness Management Self Efficacy Scale (IMSES), we tested the hypotheses that patients seen in comfortably furnished counseling (C-type) rooms would have greater increases in (a) empowerment and (b) self-efficacy after GC than patients seen in medically oriented (M-type) rooms. We matched each patient with complete GCOS and/or IMSES who was seen in a C-type room between February 2012 and December 2017 to four M-type room controls where possible. We used t tests to compare change in outcome scale scores between groups. There were no significant differences in change in scores between patients seen in M-type (GCOS n = 84, IMSES n = 56) and C-type rooms (GCOS n = 22, IMSES n = 18) (p = 0.241, d = 0.26, and p = 0.602, d = 0.14, respectively). The effect sizes we demonstrate allow estimation of sample size calculations for the design of future prospective studies.


Asunto(s)
Asesoramiento Genético , Ambiente de Instituciones de Salud , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Autoeficacia , Resultado del Tratamiento
11.
Am J Med Genet B Neuropsychiatr Genet ; 180(8): 523-532, 2019 12.
Artículo en Inglés | MEDLINE | ID: mdl-31222934

RESUMEN

Psychiatric genetic counseling (PGC) is gradually developing globally, with countries in various stages of development. In some, PGC is established as a service or as part of research projects while in others, it is just emerging as a concept. In this article, we describe the current global landscape of this genetic counseling specialty and this field's professional development. Drawing on information provided by expert representatives from 16 countries, we highlight the following: (a) current understanding of PGC; (b) availability of services for patients; (c) availability of training; (d) healthcare system disparities and cultural differences impacting practice; and (e) anticipated challenges going forward.


Asunto(s)
Asesoramiento Genético/psicología , Asesoramiento Genético/tendencias , Trastornos Mentales/genética , Humanos , Trastornos Mentales/psicología
12.
Prenat Diagn ; 37(1): 6-13, 2017 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-27466037

RESUMEN

Psychiatric disorders like schizophrenia, bipolar disorder, depression, anxiety, and obsessive-compulsive disorder are common disorders with complex aetiology. They can exact a heavy toll on the individual with the condition and can have significant impact on family members too. Accordingly, psychiatric disorders can arise as a concern in the prenatal context - couples may be interested in learning about the chance for their child to develop the illness that manifests in the family and may be interested in discussing options for prenatal testing. However, the complex nature of these conditions can present challenges for clinicians who seek to help families with these issues. We established the world's first specialist genetic counselling service of its kind in Vancouver, Canada, in 2012, and to date, have provided counselling for ~500 families and have demonstrated increases in patients' empowerment and self efficacy after genetic counselling. We draw on our accumulated clinical experience to outline the process by which we approach prenatal genetic counselling for psychiatric disorders to assist other clinicians in providing thoughtful, comprehensive support to couples seeking out this service. © 2016 John Wiley & Sons, Ltd.


Asunto(s)
Asesoramiento Genético , Trastornos Mentales/genética , Atención Prenatal , Femenino , Humanos , Embarazo , Complicaciones del Embarazo
13.
Acta Obstet Gynecol Scand ; 95(10): 1120-8, 2016 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-27461056

RESUMEN

INTRODUCTION: Our goal was to prospectively compare the trajectories of depression symptoms through pregnancy and postpartum between women who received normal prenatal screening results and those whose results indicated an increased risk for fetal aneuploidy. MATERIAL AND METHODS: Women completed the Edinburgh Postnatal Depression Scale (EPDS) at 4-week intervals between <26 weeks' gestation and 3 months postpartum. We categorized women into four groups: (i) negative serum screening and ultrasound results (SS(-) /US(-) , n = 103), (ii) positive serum screening/negative ultrasound results (SS(+) /US(-) , n = 42), (iii) negative serum screening/positive ultrasound results (SS(-) /US(+) , n = 19), or (iv) positive serum screening and ultrasound results (SS(+) /US(+) , n = 13), and compared EPDS scores between groups using Poisson regression. RESULTS: Women who received any positive prenatal screening result had significantly higher EPDS scores during pregnancy than SS(-) /US(-) women (p = 0.002), with SS(-) /US(+) women having the highest scores. During the postpartum, any positive screening test result was only marginally significantly associated with EPDS scores (p = 0.06), but women in the SS(-) /US(+) group had significantly higher scores than women in the SS(-) /US(-) group (p = 0.05). CONCLUSIONS: Our data suggest that different types of prenatal screening tests may have different effects on women's moods, and that depression symptoms persist for women who have soft markers identified on ultrasound.


Asunto(s)
Aneuploidia , Depresión Posparto/diagnóstico , Madres/psicología , Complicaciones del Embarazo/psicología , Depresión Posparto/psicología , Femenino , Humanos , Recién Nacido , Embarazo , Atención Prenatal/métodos , Estudios Prospectivos , Escalas de Valoración Psiquiátrica , Medición de Riesgo
14.
Arch Womens Ment Health ; 19(2): 253-8, 2016 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-26260036

RESUMEN

While women with a history of major depressive disorder (MDD) have higher chances for postpartum depressive and manic episodes, little is known about their chance for postpartum psychosis (PPP). We prospectively assessed the frequency of perinatal psychotic symptoms among primiparous women with a history of MDD only (structured clinical interview was used to exclude women with pre-existing histories of mania or psychosis) and explored whether sex of the baby influenced these symptoms.The presence of symptoms of psychosis was defined using previously established cutoff scores on five key items from the Positive and Negative Syndrome Scale (PANSS), which was administered during pregnancy, at 1 week, 1 month, and 3 months postpartum.Fourteen of 60 women (23%) scored above threshold for psychosis at one or more time points, with 6 experiencing postpartum onset. There was a non-significant trend (p = 0.073) towards higher frequency of these symptoms among mothers of girls.If controlled studies using diagnostic interviews confirm that psychotic symptoms are relatively common among women with MDD, monitoring for psychosis during the perinatal period may be indicated in this population. The potential effect of sex of the baby on mothers' chance for PPP requires further study.


Asunto(s)
Depresión Posparto/epidemiología , Trastorno Depresivo Mayor/complicaciones , Madres/psicología , Paridad , Mujeres Embarazadas/psicología , Trastornos Psicóticos/epidemiología , Adolescente , Adulto , Depresión Posparto/diagnóstico , Depresión Posparto/psicología , Trastorno Depresivo Mayor/epidemiología , Trastorno Depresivo Mayor/psicología , Femenino , Humanos , Incidencia , Entrevistas como Asunto , Madres/estadística & datos numéricos , Atención Perinatal , Embarazo , Estudios Prospectivos , Escalas de Valoración Psiquiátrica , Trastornos Psicóticos/etiología , Trastornos Psicóticos/psicología , Factores de Riesgo , Factores Sexuales , Factores Socioeconómicos
15.
J Genet Couns ; 25(6): 1235-1242, 2016 12.
Artículo en Inglés | MEDLINE | ID: mdl-27185057

RESUMEN

Psychiatric genetic counseling (PGC) is an emerging specialty discipline within the genetic counseling profession. A specialist PGC service was founded in 2012 in Vancouver, Canada, and though patient benefits have been demonstrated, many physicians do not regularly refer patients to the service despite awareness of its availability. We conducted a qualitative study involving semi-structured telephone interviews with Vancouver-based physicians who were aware of the PGC service to explore this phenomenon. Interviews were audio-recorded, transcribed verbatim, coded, and analysed for emergent themes. Consistent with a grounded theory approach, constant comparison was employed throughout data collection and analysis. Analyses of interviews conducted with 12 physicians revealed that referral practices were informed by perceptions about the purpose of PGC and interpretation of patient cues. Physicians perceived PGC as an information-focused intervention, and considered referral when patients explicitly expressed desire for information about recurrence risk or etiology that they felt unable to adequately address themselves. Even when physicians identified psychotherapeutic benefits of PGC, patient needs of this nature were not perceived as cues prompting referral to PGC. These data suggest that further work is necessary to position PGC in physicians' minds as a service that could potentially benefit most individuals with psychiatric disorders and their families, and that it encompasses more than information provision. It is important to increase physicians' awareness of the complementary role that genetic counselors can play to that of the physician in providing psychotherapeutically oriented counselling about illness etiology.


Asunto(s)
Toma de Decisiones , Asesoramiento Genético , Médicos/psicología , Derivación y Consulta , Adulto , Canadá , Femenino , Humanos , Masculino , Persona de Mediana Edad , Investigación Cualitativa
16.
Arch Womens Ment Health ; 17(2): 137-43, 2014 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-24402681

RESUMEN

Women with a history of major depressive disorder (MDD) have increased risks for postpartum depression, but less is known about postpartum mania in this population. The objectives of this study were to prospectively determine the frequency with which mania occurs in the postpartum among women who have a history of MDD and to explore temporal relationships between onset of mania/hypomania and depression. We administered the Structured Clinical Interview for DSM IV disorders (SCID) to pregnant women with a self-reported history of MDD to confirm diagnosis and exclude women with any history of mania/hypomania. Participants completed the Edinburgh Postnatal Depression Scale and Altman Self-Rating Mania Scale (ASRM) once during the pregnancy (∼26 weeks) and 1 week, 1 month, and 3 months postpartum. Among women (n = 107) with a SCID-confirmed diagnosis of MDD, 34.6 % (n = 37) experienced mania/hypomania (defined by an ASRM score of ≥6) at ≥1 time point during the postpartum, and for just over half (20/37, 54 %), onset was during the postpartum. The highest frequency of mania/hypomania (26.4 %, n = 26) was at 1 week postpartum. Women who experienced mania/hypomania at 1 week postpartum had significantly more symptoms of mania/hypomania later in the postpartum. A substantive proportion of women with a history of MDD may experience first onset of mania/hypomania symptoms in the early postpartum, others may experience first onset during pregnancy. Taken with other recent data, these findings suggest a possible rationale for screening women with a history of MDD for mania/hypomania during the early postpartum period, but issues with screening instruments are discussed.


Asunto(s)
Trastorno Bipolar/epidemiología , Depresión Posparto/epidemiología , Depresión/epidemiología , Trastorno Depresivo Mayor/complicaciones , Mujeres Embarazadas/psicología , Trastorno Bipolar/diagnóstico , Trastorno Bipolar/psicología , Colombia Británica/epidemiología , Depresión/diagnóstico , Depresión/psicología , Depresión Posparto/diagnóstico , Depresión Posparto/psicología , Trastorno Depresivo Mayor/epidemiología , Trastorno Depresivo Mayor/psicología , Femenino , Humanos , Incidencia , Atención Perinatal , Embarazo , Estudios Prospectivos , Escalas de Valoración Psiquiátrica , Autoinforme , Índice de Severidad de la Enfermedad , Factores Socioeconómicos
17.
Genet Med ; 15(9): 713-20, 2013 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-23579435

RESUMEN

PURPOSE: The aim of this study was to determine the frequency with which medical geneticists discuss the psychiatric manifestations of 22q11.2 deletion syndrome (22q11DS) with families in relation to the frequency with which they discuss the other manifestations of the syndromes and to explore relationships between discussion of these features and stigma toward psychiatric disorders. METHODS: We surveyed medical geneticists in the United States and Canada regarding the frequency with which they discuss various features of 22q11DS with families in the context of four clinical scenarios in which only the age of the patient at diagnosis differed. Respondents also completed a 20-item validated psychometric measure of stigma toward psychiatric disorders. RESULTS: 308 of 546 medical geneticists completed the survey (56% response rate). Overall, psychiatric disorders were discussed significantly less often than other features of 22q11DS (P < 0.0001) but were discussed significantly more often when the patient was 13 years or older (P < 0.0001) than when the patient was younger. Geneticists who discussed psychiatric disorders the least had significantly higher levels of stigma toward psychiatric disorders (P = 0.007). CONCLUSION: Psychiatric manifestations of 22q11DS are less often discussed with families during childhood. Education for physicians to help reduce stigma toward psychiatric disorders (which may impede discussion of psychiatric disorders) may warrant exploration in this population.


Asunto(s)
Síndrome de DiGeorge/genética , Síndrome de DiGeorge/psicología , Genética Médica , Trastornos Mentales/psicología , Relaciones Médico-Paciente , Adolescente , Adulto , Anciano , Actitud Frente a la Salud , Canadá , Niño , Cromosomas Humanos Par 22 , Femenino , Asesoramiento Genético , Humanos , Masculino , Persona de Mediana Edad , Factores de Riesgo , Encuestas y Cuestionarios , Estados Unidos , Adulto Joven
18.
Birth Defects Res A Clin Mol Teratol ; 97(6): 416-20, 2013 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-23760977

RESUMEN

BACKGROUND: Maternal folate supplementation reduces offspring risk for neural tube defects (NTDs) and other congenital abnormalities. Maternal red blood cell (RBC) folate concentrations of >906 nmol/L have been associated with the lowest risk of having a neural tube defect affected pregnancy. Mood disorders (e.g., depression, bipolar disorder) are common among women and can be associated with folate deficiency. Thus, pregnant women with histories of mood disorders may be prone to RBC folate levels insufficient to provide optimal protection against neural tube defects. Although previous studies have assessed RBC folate concentrations in pregnant women from the general population, none have looked specifically at a group of pregnant women who have a history of a mood disorder. METHODS: We collected data about RBC folate concentrations and folic acid supplement intake during early pregnancy (<161 days gestation) from n = 24 women with histories of mood disorders. We also collected information about offspring congenital abnormalities and birth weight. RESULTS: Among women with histories of mood disorders, the mean RBC folate concentration was 674 nmol/L (range, 362-1105 nmol/L). Only 12.5% (n = 3) of the women had RBC folate concentrations >906 nmol/L, despite all participants reporting current daily use of folic acid supplements. Data regarding offspring were available for 22 women: birth weights ranged from 2296 g to 4819 g, and congenital abnormalities were identified in two (hypoplastic left heart, annular pancreas). CONCLUSION: Data from this exploratory case series suggest a need for future larger scale controlled studies investigating RBC folate concentrations in early pregnancy and offspring outcomes among women with and without histories of mood disorders.


Asunto(s)
Suplementos Dietéticos/estadística & datos numéricos , Eritrocitos/metabolismo , Ácido Fólico/sangre , Trastornos del Humor/sangre , Colombia Británica , Femenino , Humanos , Embarazo , Resultado del Embarazo
19.
J Genet Couns ; 22(5): 625-32, 2013 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-23604904

RESUMEN

No genetic tests are currently clinically available for serious mental illnesses such as schizophrenia and bipolar disorder. Rather, the full spectrum of genetic variants that confer susceptibility remain unknown, and estimates of probability of condition recurrence typically have the form of ranges rather than single absolute numbers. Genetic counselors have been shown to feel that the information that can be provided for patients with serious mental illness could be more confusing than helpful. However, how those with serious mental illness perceive this uncertainty remains unknown. So, to investigate this, individuals with serious mental illness participated in a psychiatric genetic counseling (GC) session and responded to a single open ended question about their reactions towards the uncertainty that they encountered in their GC session immediately and one month post-counseling (from which themes were identified), and completed the Genetic Counseling Satisfaction Scale immediately post-session (descriptive statistics applied). While some of the 37 participants were disappointed with the uncertainty, twice as many were unconcerned. Overall, responses from immediately and one month after GC were very similar; participants were very satisfied with, and found value in GC despite uncertainty, and four approaches to coping with uncertainty emerged. Ultimately, these findings offer insight into providing GC for those with serious mental illness, and potentially could be applied to other areas of GC where uncertainty lies, with downstream impact on GC practice and future research.


Asunto(s)
Asesoramiento Genético , Trastornos Mentales/terapia , Incertidumbre , Adulto , Anciano , Femenino , Humanos , Masculino , Trastornos Mentales/psicología , Persona de Mediana Edad , Encuestas y Cuestionarios , Adulto Joven
20.
Public Health Genomics ; 26(1): 35-44, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37019096

RESUMEN

INTRODUCTION: Though it is well established that genetic information does not produce behavior changes, there are limited data regarding whether genetic counseling can facilitate changes in lifestyle and health behaviors that can result in improved health outcomes. METHODS: To explore this issue, we conducted semi-structured interviews with 8 patients who had lived experience of psychiatric illness and who had received psychiatric genetic counseling (PGC). Using interpretive description, we used a constant comparative approach to data analysis. RESULTS: Participants talked about how, prior to PGC, they held misconceptions and/or uncertainties about the causes of and protective behaviors associated with mental illness, which caused feelings of guilt, shame, fear, and hopelessness. Participants reported that PGC reframed things in a way that provided them a sense of agency over illness management, allowed a greater acceptance of illness, and provided release from some of the negative emotions associated with their initial framing of their illness, which seemed to be related to the self-reported increase in engagement in illness management behaviors and consequently improved mental health outcomes. CONCLUSION: This exploratory study provides evidence to support the idea that through addressing emotions associated with perceived cause of illness and facilitating understanding of etiology and risk-reducing strategies, PGC may lead to an increase in behaviors, which protect mental health.


Asunto(s)
Asesoramiento Genético , Trastornos Mentales , Humanos , Trastornos Mentales/genética
SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA