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1.
Eur J Hum Genet ; 32(3): 302-308, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38057584

RESUMEN

In the Netherlands, genome-wide non-invasive prenatal testing (NIPT) is offered to all pregnant women as part of the nationwide TRIDENT-2 study. Findings other than trisomy 21, 18, or 13, which are called "additional findings", are reported only on request of the pregnant woman. This study examined: (1) women's pre-test perceptions and reasons to opt for additional findings and (2) women's experiences with- and the psychological impact of being informed about an additional finding. A questionnaire, consisting of the anxiety measure State-Trait Anxiety Inventory (STAI), distress measure Impact of Event Scale (IES) and questions developed specifically for this study, was retrospectively administered to 402 women who received an additional finding. A total of 227 (56.5%) women completed the questionnaire. Most (60.2%) chose to know additional findings because they wanted as much information as possible about the health of their fetus. Almost all (92%) stated that receiving the additional finding was unexpected, a shock, and/or they were in disbelief, for 85% it caused a lot of worry. Post-test, high anxiety (STAI) levels were reported in 15.5% of women, and 7.5% reported severe distress (IES). Women who gave birth to an affected child (n = 10) experienced most psychological impact (STAI and IES). Eighty-six percent of women with a fetal aberration would opt for additional findings again, compared to 49.2% of women whose result was confined to the placenta. Pre-test counseling should focus on explaining the different results NIPT can generate. Post-test counseling should focus on guiding pregnant women through this uncertain and anxious time.


Asunto(s)
Síndrome de Down , Diagnóstico Prenatal , Niño , Embarazo , Femenino , Humanos , Masculino , Diagnóstico Prenatal/métodos , Estudios Retrospectivos , Feto , Placenta
2.
Mol Cytogenet ; 16(1): 26, 2023 Sep 29.
Artículo en Inglés | MEDLINE | ID: mdl-37775759

RESUMEN

BACKGROUND: Balanced chromosome aberrations are reported in about 1:30 couples with recurrent pregnancy loss (RPL). Karyotyping of both parents is necessary to identify these aberrations. Genome-wide non-invasive prenatal testing (NIPT) in case of recurrent pregnancy loss could be a more efficient way to identify couples at increased risk for carrying a balanced chromosome rearrangement. The aim of this study was to evaluate whether the potential fetal imbalances caused by parental balanced aberrations detected in our center are large enough to be detectable by genome-wide non-invasive prenatal testing (NIPT). MATERIAL AND METHODS: From January 1970 until May 2020 our laboratory received 30,863 unique requests for karyotyping due to RPL. We have identified 16,045 couples and evaluated all abnormal cytogenetic results to assess the minimal size of the involved chromosomal segments in potential unbalanced products of the rearrangements. RESULTS: In the presented cohort we detected 277 aberrant balanced translocations/inversions in females and 185 in males amongst 16,045 couples with RPL, which can be translated to a risk of 1:35 (2.9%, 95% CI 2.6-3.2%). Our study showed that the vast majority (98.7%, 95% CI 97.1-99.5%) of these balanced aberrations will potentially cause a fetal imbalance > 10 Mb, which is detectable with genome-wide NIPT if it was performed during one of the miscarriages. CONCLUSIONS: Our study suggests that genome-wide NIPT is able to reveal most unbalanced products of balanced chromosomal rearrangements carried by couples with RPL and therefore can potentially identify balanced chromosomal aberration carriers. Moreover, our data suggest that these couples can be offered NIPT in case they decline invasive testing in future pregnancies.

3.
BMC Psychiatry ; 23(1): 136, 2023 03 06.
Artículo en Inglés | MEDLINE | ID: mdl-36879204

RESUMEN

BACKGROUND: Binge eating disorder (BED), as the most prevalent eating disorder, is strongly related to obesity and other somatic and psychiatric morbidity. Despite evidence-based treatments a considerable number of BED patients fail to recover. There is preliminary evidence for the association between psychodynamic personality functioning and personality traits on treatment outcome. However, research is limited and results are still contradictory. Identifying variables associated with treatment outcome could improve treatment programs. The aim of the study was to explore whether personality functioning or personality traits are associated with Cognitive Behavioral Therapy (CBT) outcome in obese female patients with BED or subthreshold BED. METHODS: Eating disorder symptoms and clinical variables were assessed in 168 obese female patients with DSM-5 BED or subthreshold BED, referred to a 6-month outpatient CBT program in a pre-post measurement design. Personality functioning was assessed by the Developmental Profile Inventory (DPI), personality traits by the Temperament and Character Inventory (TCI). Treatment outcome was assessed by the Eating Disorder Examination-Questionnaire (EDE-Q) global score and self-reported binge eating frequency. According to the criteria of clinical significance, 140 treatment completers were categorized in four outcome groups (recovered, improved, unchanged, deteriorated). RESULTS: EDE-Q global scores, self-reported binge eating frequency and BMI significantly decreased during CBT, where 44.3% of patients showed clinically significant change in EDE-Q global score. Treatment outcome groups showed significant overall differences on the DPI Resistance and Dependence scales and the aggregated 'neurotic' scale. Significant overall differences were found between groups on TCI Harm avoidance, although post hoc t-tests were non-significant. Furthermore, multiple logistic regression analysis, controlling for mild to moderate depressive disorder and TCI harm avoidance showed that 'neurotic' personality functioning was a significant negative predictor of clinically significant change. CONCLUSION: Maladaptive ('neurotic') personality functioning is significantly associated with a less favorable outcome after CBT in patients with binge eating. Moreover, 'neurotic' personality functioning is a predictor of clinically significant change. Assessment of personality functioning and personality traits could support indication for more specified or augmented care, tailored towards the patients' individual strengths and vulnerabilities. TRIAL REGISTRATION: This study protocol was retrospectively evaluated and approved on 16-06-2022 by the Medical Ethical Review Committee (METC) of the Amsterdam Medical Centre (AMC). Reference number W22_219#22.271.


Asunto(s)
Trastorno por Atracón , Terapia Cognitivo-Conductual , Humanos , Femenino , Trastorno por Atracón/complicaciones , Trastorno por Atracón/terapia , Estudios Retrospectivos , Personalidad , Pacientes Ambulatorios , Obesidad/complicaciones , Obesidad/terapia
4.
Eur J Hum Genet ; 31(4): 409-416, 2023 04.
Artículo en Inglés | MEDLINE | ID: mdl-35551502

RESUMEN

Public engagement for Human Germline Genome Editing (HGGE) has often been called for, for example by the WHO. However, the impact of public engagement remains largely unknown. This study reports on public engagement outcomes in the context of a public dialogue project about HGGE in the Netherlands; the DNA-dialogue. The aim was to inquire opinions and opinion change regarding HGGE. A questionnaire was distributed on a national level (n = 2381) and a dialogue level (n = 414). The results indicate that the majority of the Dutch population agrees with the use of HGGE to prevent severe genetic diseases (68.6%), unlike the use to protect against infectious diseases (39.7%), or for enhancement (8.5%). No indications of change in these acceptance rates as a result of dialogue participation were found. The results did provide a tentative indication that participation in dialogue may lead to less negative opinions about HGGE (χ2(1) = 5.14, p = 0.023, OR = 0.56, 95% CI [0.34, 0.93]). While it was not a goal of the project to make people more accepting towards HGGE, this might be the effect of exposure to opinions that are less often heard in the global debate. We conclude that dialogue may lead to different outcomes for different people, depending on their characteristics and their entrance attitude, but does not appear to systematically direct people towards a certain opinion. The self-reported, impacts of dialogue participation included no impact, strengthening of opinion, enabling of forming a first opinion, more insight into the potential implications of HGGE, and a better understanding of other people's perspectives.


Asunto(s)
Actitud , Edición Génica , Humanos , Genoma Humano , Células Germinativas , ADN
6.
Prenat Diagn ; 43(4): 467-476, 2023 04.
Artículo en Inglés | MEDLINE | ID: mdl-36109868

RESUMEN

OBJECTIVE: To investigate factors involved in the decision to decline prenatal screening with noninvasive prenatal testing (NIPT). METHOD: A questionnaire study was conducted among 219 pregnant women in the Netherlands who had declined prenatal screening with NIPT (TRIDENT-2 study). Respondents were selectively recruited from three hospitals and 19 midwifery practices, primarily located in or near socioeconomically disadvantaged neighborhoods. 44.3% of the respondents were of non-Western ethnic origin and 64.4% were religious. RESULTS: Most respondents (77.2%) found the decision to decline NIPT easy to make, and 59.8% had already made the decision before information about NIPT was offered. These respondents were more often religious, multigravida, and had adequate health literacy. The main reasons to decline NIPT were "I would never terminate my pregnancy" (57.1%) and "every child is welcome" (56.2%). For 16.9% of respondents, the out-of-pocket costs (175 euros) played a role in the decision, and the women in this group were more often nonreligious, primigravida, and had inadequate health literacy. CONCLUSION: The primary factors involved in the decision to decline NIPT were related to personal values and beliefs, consistent with autonomous choice. Out-of-pocket costs of NIPT hinder equal access for some pregnant women.


Asunto(s)
Síndrome de Down , Pruebas Prenatales no Invasivas , Femenino , Humanos , Embarazo , Costos y Análisis de Costo , Síndrome de Down/diagnóstico , Países Bajos , Diagnóstico Prenatal , Recién Nacido
8.
Am J Hum Genet ; 109(6): 1140-1152, 2022 06 02.
Artículo en Inglés | MEDLINE | ID: mdl-35659929

RESUMEN

In the TRIDENT-2 study, all pregnant women in the Netherlands are offered genome-wide non-invasive prenatal testing (GW-NIPT) with a choice of receiving either full screening or screening solely for common trisomies. Previous data showed that GW-NIPT can reliably detect common trisomies in the general obstetric population and that this test can also detect other chromosomal abnormalities (additional findings). However, evidence regarding the clinical impact of screening for additional findings is lacking. Therefore, we present follow-up results of the TRIDENT-2 study to determine this clinical impact based on the laboratory and perinatal outcomes of cases with additional findings. Between April 2017 and April 2019, additional findings were detected in 402/110,739 pregnancies (0.36%). For 358 cases, the origin was proven to be either fetal (n = 79; 22.1%), (assumed) confined placental mosaicism (CPM) (n = 189; 52.8%), or maternal (n = 90; 25.1%). For the remaining 44 (10.9%), the origin of the aberration could not be determined. Most fetal chromosomal aberrations were pathogenic and associated with severe clinical phenotypes (61/79; 77.2%). For CPM cases, occurrence of pre-eclampsia (8.5% [16/189] vs 0.5% [754/159,924]; RR 18.5), and birth weight <2.3rd percentile (13.6% [24/177] vs 2.5% [3,892/155,491]; RR 5.5) were significantly increased compared to the general obstetric population. Of the 90 maternal findings, 12 (13.3%) were malignancies and 32 (35.6%) (mosaic) pathogenic copy number variants, mostly associated with mild or no clinical phenotypes. Data from this large cohort study provide crucial information for deciding if and how to implement GW-NIPT in screening programs. Additionally, these data can inform the challenging interpretation, counseling, and follow-up of additional findings.


Asunto(s)
Diagnóstico Prenatal , Trisomía , Estudios de Cohortes , Femenino , Estudios de Seguimiento , Humanos , Mosaicismo , Placenta , Embarazo , Diagnóstico Prenatal/métodos
9.
Eur J Hum Genet ; 29(1): 2-10, 2021 01.
Artículo en Inglés | MEDLINE | ID: mdl-32759960

RESUMEN

The introduction of the accurate and procedurally easy non-invasive prenatal test (NIPT) raises ethical concerns that public attitudes towards prenatal screening may change, leading to societal pressure to participate in aneuploidy screening. This study examined Dutch citizens' attitudes towards a pregnant woman's decision to (1) decline NIPT in the context of two different funding policies and (2) to terminate or continue a pregnancy affected by different disorders. The attitudes of 1096 respondents were assessed with the contrastive vignette method, using two pairs of vignettes about declining NIPT and termination of pregnancy. Most respondents either agreed with a woman's decision to decline NIPT or were neutral about it, stating that this decision should be made independently by women, and does not warrant judgement by others. Interestingly, funding policies did influence respondents' attitudes: significantly more respondents disagreed with declining NIPT when it was fully reimbursed. Respondents had similar attitudes to the vignettes on termination and continuation of pregnancy in case of Down's syndrome. In case of Edwards' or Patau's syndrome, however, significantly more respondents disagreed with continuation, citing the severity of the disorder and the child's best interests. This study demonstrates broad acknowledgement of women's freedom of choice in Dutch society; a finding that may help to rebut existing concerns about societal pressure for pregnant women to participate in prenatal screening. As the reimbursement policy and the scope of NIPT may influence people's attitudes and elicit moral judgements, however, maintaining freedom of choice warrants sustained efforts by health professionals and policy makers.


Asunto(s)
Actitud , Pruebas Prenatales no Invasivas/ética , Influencia de los Compañeros , Autonomía Personal , Adolescente , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Países Bajos , Pruebas Prenatales no Invasivas/legislación & jurisprudencia
10.
Acta Obstet Gynecol Scand ; 100(6): 1106-1115, 2021 06.
Artículo en Inglés | MEDLINE | ID: mdl-33249554

RESUMEN

INTRODUCTION: The aim of this retrospective cohort study was to determine the potential diagnostic yield of prenatal whole exome sequencing in fetuses with structural anomalies on expert ultrasound scans and normal chromosomal microarray results. MATERIAL AND METHODS: In the period 2013-2016, 391 pregnant women with fetal ultrasound anomalies who received normal chromosomal microarray results, were referred for additional genetic counseling and opted for additional molecular testing pre- and/or postnatally. Most of the couples received only a targeted molecular test and in 159 cases (40.7%) whole exome sequencing (broad gene panels or open exome) was performed. The results of these molecular tests were evaluated retrospectively, regardless of the time of the genetic diagnosis (prenatal or postnatal). RESULTS: In 76 of 391 fetuses (19.4%, 95% CI 15.8%-23.6%) molecular testing provided a genetic diagnosis with identification of (likely) pathogenic variants. In the majority of cases (91.1%, 73/76) the (likely) pathogenic variant would be detected by prenatal whole exome sequencing analysis. CONCLUSIONS: Our retrospective cohort study shows that prenatal whole exome sequencing, if offered by a clinical geneticist, in addition to chromosomal microarray, would notably increase the diagnostic yield in fetuses with ultrasound anomalies and would allow early diagnosis of a genetic disorder irrespective of the (incomplete) fetal phenotype.


Asunto(s)
Anomalías Múltiples/diagnóstico , Trastornos de los Cromosomas/diagnóstico , Secuenciación del Exoma/métodos , Enfermedades Fetales/diagnóstico , Pruebas Genéticas/métodos , Diagnóstico Prenatal/métodos , Anomalías Múltiples/genética , Adulto , Trastornos de los Cromosomas/genética , Femenino , Enfermedades Fetales/genética , Humanos , Embarazo , Estudios Retrospectivos , Ultrasonografía Prenatal/métodos
11.
J Psychiatr Pract ; 26(6): 472-484, 2020 11.
Artículo en Inglés | MEDLINE | ID: mdl-33275384

RESUMEN

OBJECTIVE: There is preliminary evidence for an association between personality traits and binge eating disorder (BED) in obese patients. In addition, recent studies have shown impaired psychodynamic personality functioning in BED. However, these results are partly inconsistent. The goal of this study was to explore and evaluate personality traits and personality functioning in obese patients with BED or subthreshold BED. Moreover, we aimed to explore the additional value of combined assessment of personality traits and personality functioning. METHODS: Treatment-seeking obese female patients with BED (n=129) or subthreshold BED (n=91) were compared with obese (n=107) and nonobese (n=90) female community controls in terms of personality traits (using the Temperament and Character Inventory) and personality functioning (using the Developmental Profile Inventory) in univariate and multivariate analyses. RESULTS: Harm Avoidance was higher and Self-Directedness was lower in obese patients with BED or subthreshold BED compared with obese and nonobese community controls. In addition, obese patients with BED or subthreshold BED presented more maladaptive and less adaptive personality functioning than controls. Although univariate analyses did not find significant differences in personality traits or personality functioning between obese patients with BED and those with subthreshold BED, when both personality traits and personality functioning were combined in multivariate analysis (data from both the Temperament and Character Inventory and Developmental Profile Inventory), obese patients with BED showed greater vulnerabilities in personality traits and functioning than obese patients with subthreshold BED. CONCLUSIONS: Obese patients with BED or subthreshold BED had specific impairments in personality traits and personality functioning. Combined assessment indicated that patients with BED had the most vulnerable personality profile of the 4 groups. The results support the added value of assessment of both personality traits and psychodynamic personality functioning, in line with the alternative Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) model for personality disorders.


Asunto(s)
Trastorno por Atracón/psicología , Obesidad/psicología , Personalidad , Adulto , Femenino , Humanos , Persona de Mediana Edad , Temperamento
12.
Acta Obstet Gynecol Scand ; 99(6): 765-774, 2020 06.
Artículo en Inglés | MEDLINE | ID: mdl-32306377

RESUMEN

INTRODUCTION: Currently fetal nuchal translucency (NT) ≥3.5 mm is an indication for invasive testing often followed by chromosomal microarray. The aim of this study was to assess the risks for chromosomal aberrations in fetuses with an NT 3.0-3.4 mm, to determine whether invasive prenatal testing would be relevant in these cases and to assess the residual risks in fetuses with normal non-invasive prenatal test (NIPT) results. MATERIAL AND METHODS: A retrospective study and meta-analysis of literature cases with NT between 3.0 and 3.4 mm and 2 cohorts of pregnant women referred for invasive testing and chromosomal microarray was performed: Rotterdam region (with a risk >1:200 and NT between 3.0 and 3.4 mm) tested in the period July 2012 to June 2019 and Central Denmark region (with a risk >1:300 and NT between 3.0 and 3.4 mm) tested between September 2015 and December 2018. RESULTS: A total of 522 fetuses were referred for invasive testing and chromosomal microarray. Meta-analysis indicated that in 1:7.4 (13.5% [95% CI 8.2%-21.5%]) fetuses a chromosomal aberration was diagnosed. Of these aberrant cases, 47/68 (69%) involved trisomy 21, 18, and 13 and would potentially be detected by all NIPT approaches. The residual risk for missing a (sub)microscopic chromosome aberration depends on the NIPT approach and is highest if NIPT was performed only for common trisomies-1:21 (4.8% [95% CI 3.2%-7.3%]). However, it may be substantially lowered if a genome-wide 10-Mb resolution NIPT test was offered (~1:464). CONCLUSIONS: Based on these data, we suggest that the NT cut-off for invasive testing could be 3.0 mm (instead of 3.5 mm) because of the high risk of 1:7.4 for a chromosomal aberration. If women were offered NIPT first, there would be a significant diagnostic delay because all abnormal NIPT results need to be confirmed by diagnostic testing. If the woman had already received a normal NIPT result, the residual risk of 1:21 to 1:464 for chromosome aberrations other than common trisomies, dependent on the NIPT approach, should be raised. If a pregnant woman declines invasive testing, but still wants a test with a broader coverage of clinically significant conditions then the genome-wide >10-Mb resolution NIPT test, which detects most aberrations, could be proposed.


Asunto(s)
Aberraciones Cromosómicas , Análisis por Micromatrices , Pruebas Prenatales no Invasivas , Medida de Translucencia Nucal , Estudios de Cohortes , Femenino , Humanos , Embarazo , Estudios Retrospectivos , Trisomía/diagnóstico , Trisomía/genética
13.
Mol Genet Genomic Med ; 8(1): e1062, 2020 01.
Artículo en Inglés | MEDLINE | ID: mdl-31790156

RESUMEN

BACKGROUND: Two technological innovations in the last decade significantly influenced the diagnostic yield of prenatal cytogenetic testing: genomic microarray allowing high resolution analysis and noninvasive prenatal testing (NIPT) focusing on aneuploidy. To anticipate future trends in prenatal screening and diagnosis, we evaluated the number of invasive tests in our center and the number of aberrant cases diagnosed in the last decade. METHODS: We retrospectively analyzed fetal chromosomal aberrations diagnosed in 2009-2018 in 8,608 pregnancies without ultrasound anomalies. RESULTS: The introduction of NIPT as the first-tier test led to a substantial decrease in the number of invasive tests and a substantially increased diagnostic yield of aneuploidies in the first trimester. However, we have also noted a decreased detection of submicroscopic aberrations, since the number of invasive tests substantially decreased. We have observed that pregnant women were interested in broader scope of prenatal screening and diagnosis than detection of common trisomies. CONCLUSION: Since the frequency of syndromic disorders caused by microdeletions/microduplications is substantial and current routine NIPT and ultrasound investigations are not able to detect them, we suggest that a noninvasive test with resolution comparable to microarrays should be developed, which will also meet patient's needs.


Asunto(s)
Evaluación de Necesidades , Pruebas Prenatales no Invasivas/normas , Actitud , Aberraciones Cromosómicas , Femenino , Genoma , Humanos , Pruebas Prenatales no Invasivas/métodos , Embarazo , Mujeres Embarazadas/psicología , Sensibilidad y Especificidad
14.
Mindfulness (N Y) ; 10(1): 55-65, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-30662572

RESUMEN

In two studies, a possible mediation effect was tested of cognitive interpretation bias in the relation between respectively dispositional mindfulness and acceptance, on the one hand, and symptoms of depression and anxiety, on the other hand. An undergraduate student sample (N = 133; 86% female, M age = 19.8) and a convenience community sample (N = 186; 66% female, M age = 36.5) were examined by means of an online questionnaire measuring dispositional mindfulness (FFMQ-SF; Study 1) and acceptance (AAQ-II; Study 2), anxiety (STAI-trait) and depressive (BDI-II) symptoms, and interpretation bias (with the interpretation bias task, IBT). Considering both studies, results showed consistently the expected relations of larger mindfulness skills going together with a smaller cognitive interpretation bias and lower levels of depression and anxiety symptoms. More interestingly, it was found that interpretation bias served as a mediator in the relations between respectively dispositional mindfulness and acceptance, and symptoms of depression and anxiety. With these findings, some more insight in the working mechanisms of mindfulness-based treatments on internalizing psychopathology has been obtained.

15.
Eur J Hum Genet ; 27(2): 235-243, 2019 02.
Artículo en Inglés | MEDLINE | ID: mdl-30297905

RESUMEN

Testing options for pregnant women at increased risk of common aneuploidies are non-invasive prenatal testing (NIPT) and invasive prenatal diagnosis (PND). Clinicians are challenged to comprehensively discuss the complex information in a patient-centered and non-directive manner, to allow for patients' informed decision-making. This study explored the information-centeredness, patient-centeredness, and level of non-directivity of different clinicians and examined group differences between their patients. First, semi-structured interviews with four senior obstetricians and one senior nurse were held regarding their information provision, their adaptation of a patient-centered attitude, and their practice of non-directivity. Interviews were transcribed verbatim and rated by four independent researchers. Secondly, 181 pregnant women were included in the study, of whom 82% opted for NIPT and 18% chose PND. Between clinicians, we assessed the distribution of choice ratios, patients' impression of clinicians' test preferences, and patients' knowledge scores. The results indicate that clinicians do not differ in their information-centeredness, but do differ in their patient-centeredness and their level of non-directivity. Significant differences in patients' NIPT/PND ratios were observed between clinicians, with the largest difference being 35 vs. 4% opting for invasive PND. Between 9 and 22% of the patients had an impression of their clinician's preference and chose in accordance with this preference. Patients' overall knowledge scores did not differ across clinicians. In conclusion, the differences in NIPT/PND ratios between clinicians indicate that clinicians' differing counseling approaches affect the choices their patients make. The interviews indicate a possible framing effect which may unintentionally steer the decision-making process.


Asunto(s)
Conducta de Elección , Asesoramiento Genético/psicología , Pruebas Genéticas/métodos , Prioridad del Paciente , Médicos/normas , Diagnóstico Prenatal/psicología , Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Médicos/psicología , Embarazo , Diagnóstico Prenatal/métodos
16.
J Psychiatr Pract ; 24(4): 239-252, 2018 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-30427807

RESUMEN

OBJECTIVE: The Developmental Profile Inventory (DPI) was constructed to assess psychodynamic personality functioning by self-report. METHOD: On the basis of the frame of reference of the Development Profile interview method, a self-report was developed covering 3 domains, self, interpersonal functioning, and problem-solving strategies, which represent 6 maladaptive and 3 adaptive developmental levels of psychodynamic functioning. The DPI was administered to patients with personality disorders who were receiving psychotherapy (N=179) and to normal controls (N=228). RESULTS: The internal reliabilities of the subscales were in general in the fair to good range in the patient sample, (α=0.67 to 0.88, ωh=0.52 to 0.87) and adequate to good in the healthy controls (α=0.71 to 0.91, ωh=0.71 to 0.90). Mean item-rest correlations were adequate (0.30 to 0.50). Test-retest reliability was good (intraclass correlation=0.73 to 0.91). The hypothesized factorial structure of the DPI with 9 subscales organized in 3 clusters was partly confirmed by confirmatory factor analysis χ/df=2.37, root mean square error of approximation=0.060, root mean residual square=0.078, and comparative fit index=0.630, with each factor showing over 80% standardized loadings >0.30, and at least 75% loadings >0.40. The DPI discriminated patients and healthy controls in a meaningful way. Correlations among the DPI and other self-report measures of global personality pathology and psychological complaints showed satisfactory convergent and discriminant validity. CONCLUSIONS: The DPI is a promising self-report measure for assessing both adaptive and maladaptive patterns of psychodynamic personality functioning. The appropriate initial psychometric properties justify proceeding with more formal tests of construct validity and predictive performance in broader mental health settings.


Asunto(s)
Trastornos de la Personalidad/diagnóstico , Inventario de Personalidad/normas , Escalas de Valoración Psiquiátrica/normas , Psicometría/normas , Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Trastornos de la Personalidad/terapia , Psicometría/instrumentación , Psicoterapia , Reproducibilidad de los Resultados , Adulto Joven
17.
Hum Mutat ; 38(7): 880-888, 2017 07.
Artículo en Inglés | MEDLINE | ID: mdl-28409863

RESUMEN

Prenatal diagnostics has been impacted by technological changes in the past decade, which have affected the diagnostic yield. The aim of this study was to evaluate the impact of SNP array and noninvasive prenatal testing (NIPT) on the diagnostic yield and the number of invasive tests in our center. The frequency of pathogenic fetal unbalanced chromosome aberrations was studied in 10,005 cases referred for prenatal testing in 2009-2015. Chromosomal SNP microarray analysis replaced karyotyping in all invasively tested pregnancies and since 2014 a choice between NIPT and diagnostic testing with microarray was offered to women with an increased risk for common aneuploidy. The introduction of microarray led to an additional yield of submicroscopic pathogenic chromosome aberrations: 3.6% in fetuses with ultrasound anomalies and 1.9% in fetuses without ultrasound anomalies. The introduction of NIPT led to a decrease of invasive tests and of diagnostic yield. Moreover, a diagnostic delay in about 1:350 cases was observed. Since 20%-33% of pathogenic fetal chromosome aberrations are different from the common aneuploidies and triploidy, whole-genome analysis should be offered after invasive sampling. Because NIPT (as a second screening) has led to a decreased diagnostic yield, it should be accompanied by an appropriate pretest counseling.


Asunto(s)
Cromosomas/ultraestructura , Análisis de Secuencia por Matrices de Oligonucleótidos , Polimorfismo de Nucleótido Simple , Diagnóstico Prenatal/métodos , Ultrasonografía Prenatal , Aneuploidia , Aberraciones Cromosómicas , Trastornos de los Cromosomas/genética , Cromosomas/genética , Cromosomas Humanos Par 13 , Cromosomas Humanos Par 18 , Cromosomas Humanos Par 21 , Diagnóstico Tardío , Femenino , Feto , Humanos , Países Bajos , Embarazo , Trisomía
18.
J Psychiatr Pract ; 23(2): 101-113, 2017 03.
Artículo en Inglés | MEDLINE | ID: mdl-28291035

RESUMEN

Considerable overlap in symptoms between patients with borderline personality disorder (BPD) and schizotypal personality disorder (STPD) complicates personality diagnostics. Yet very little is known about the level of psychodynamic functioning of both personality disorders. Psychodynamic assessment procedures may specify personality characteristics relevant for differential diagnosis and treatment planning. In this cross-sectional study we explored the differences and similarities in level of personality functioning and psychodynamic features of patients with severe BPD or STPD. In total, 25 patients with BPD and 13 patients with STPD were compared regarding their level of personality functioning (General Assessment of Personality Disorder), current quasipsychotic features (Schizotypal Personality Questionnaire), and psychodynamic functioning [Developmental Profile (DP) interview and Developmental Profile Inventory (DPI) questionnaire]. Both groups of patients showed equally severe impairments in the level of personality functioning and the presence of current quasipsychotic features. As assessed by the DP interview, significant differential psychodynamic patterns were found on the primitive levels of functioning. Moreover, subjects with BPD had significantly higher scores on the adaptive developmental levels. However, the self-questionnaire DPI was not able to elucidate all of these differences. In conclusion, our study found significant differences in psychodynamic functioning between patients with BPD and STPD as assessed with the DP interview. In complicated diagnostic cases, personality assessment by psychodynamic interviewing can enhance subtle but essential differentiation between BPD and STPD.


Asunto(s)
Trastorno de Personalidad Limítrofe/diagnóstico , Trastorno de la Personalidad Esquizotípica/diagnóstico , Adulto , Trastorno de Personalidad Limítrofe/fisiopatología , Diagnóstico Diferencial , Femenino , Humanos , Masculino , Persona de Mediana Edad , Determinación de la Personalidad , Trastorno de la Personalidad Esquizotípica/fisiopatología , Adulto Joven
19.
Addict Behav ; 39(11): 1670-1675, 2014 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-24837083

RESUMEN

Recent theories hypothesize that the impulsivity observed in addictive behaviors is a two-factor construct, consisting of Rash Impulsiveness and Reward Sensitivity. There is some evidence for this distinction, but it is unknown what the clinical relevance of this distinction is. The present study examines the predictive value of the two-factor model regarding drop-out from treatment and relapse into substance use in a clinical population of male substance dependent patients. Both behavioral and self-report measures of Rash Impulsiveness and Reward Sensitivity were measured during treatment while substance use relapse was measured after 90days. Results indicate that treatment drop-out could be predicted by a behavioral index of Reward Sensitivity (Card Playing Task); self-reported Rash Impulsiveness only approached significance as predictor drop-out. In contrast, relapse could not be predicted in the present study. These findings might have implications for the early identification and treatment of patients at risk of treatment drop-out.


Asunto(s)
Conducta Impulsiva/efectos de los fármacos , Recompensa , Trastornos Relacionados con Sustancias/terapia , Adulto , Conducta Exploratoria/efectos de los fármacos , Humanos , Masculino , Modelos Psicológicos , Valor Predictivo de las Pruebas , Pruebas Psicológicas , Recurrencia , Trastornos Relacionados con Sustancias/psicología , Resultado del Tratamiento
20.
J Behav Ther Exp Psychiatry ; 43(4): 1008-13, 2012 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-22571969

RESUMEN

BACKGROUND AND OBJECTIVES: Covariation bias refers to the phenomenon of overestimating the contingency between certain stimuli and negative outcomes, which is considered as a heuristic playing a role in the maintenance of certain types of psychopathology. In the present study, covariation bias was investigated within the context of eating pathology. METHODS: In a sample of 148 adolescents (101 girls, 47 boys; mean age 15.3 years), a priori and a posteriori contingencies were measured between words referring to control and loss of control over eating behavior, on the one hand, and fear, disgust, positive and neutral outcomes, on the other hand. RESULTS: Results indicated that all adolescents displayed an a priori covariation bias reflecting an overestimation of the contingency of words referring to loss of control over eating behavior and fear- and disgust-relevant outcomes, while words referring to control over eating behavior were more often associated with positive and neutral outcomes. This bias was unrelated to level of eating disorder symptoms. In the case of a posteriori contingency estimates no overall bias could be observed, but some evidence was found indicating that girls with higher levels of eating disorder symptoms displayed a stronger covariation bias. CONCLUSION: These findings provide further support for the notion that covariation bias is involved in eating pathology, and also demonstrate that this type of cognitive distortion is already present in adolescents.


Asunto(s)
Emociones , Miedo/psicología , Trastornos de Alimentación y de la Ingestión de Alimentos/diagnóstico , Control Interno-Externo , Adolescente , Trastornos de Alimentación y de la Ingestión de Alimentos/psicología , Femenino , Humanos , Masculino , Encuestas y Cuestionarios
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