Family History Screening Research Articles

Abstract P1-01-10: Pleomorphic lobular carcinoma in situ (PLCIS)-presentation, associated lesions and outcome

Abstract Pleomorphic lobular carcinoma in situ (PLCIS) is an uncommon lesion characterised by dyscohesive lobular cells showing high grade nuclei. It is commonly associated with comedo necrosis and luminal calcifications and hence diagnosed on mammographic screening. Data on the presentation, focality, associated lesions, optimal treatment and outcome of PLCIS is patchy. Methods Cases diagnosed as PLCIS between 2005 and 2015 were identified from the imaging and pathology databases of two UK large breast screening units. Cases diagnosed on diagnostic core biopsy/VAB or surgical excisions were included. Comprehensive data was collected on age, mode of presentation (screening vs symptomatic), imaging (mammography, ultrasound and MRI), surgical management, histological features on core biopsy and excision including type, grade and immunohistochemical profile of associated ductal carcinoma in situ (DCIS) and invasive carcinoma. Results 86 cases with the diagnosis of PLCIS (confirmed by review and e-cadherin negativity) were identified. The mean patient age at diagnosis was 61.04 years, range: 39-84 years. 32 cases were treated with wide local excision with/without axillary procedure. A total of 38 patients were screen detected & 36 cases were diagnosed in the symptomatic setting. Others presented as incidental calcifications on family history screening, incidental histological findings in breast reductions and risk reducing mastectomy. On mammography, 6 patients presented with an asymmetrical density, with or without calcifications, 25 with calcifications, 44 as a mass and 2 as stromal deformity. No mammographic abnormality was found in 9 cases. PLCIS was multifocal in 19.7% of cases, diffuse in 9.9%, focal in 69% and multi-centric in 1.4% on imaging. Histologically, PLCIS was the most advanced lesion on core biopsy without associated DCIS or invasive disease (pure PLCIS) in 23 patients. Of these, surgical excision revealed an invasive carcinoma in 7 cases (upgrade rate =30.4%). Six more patients presented as DCIS and PLCIS on core biopsy; three of whom (50%) had invasive disease on excision. Classical LCIS was associated with PLCIS in 27/86 cases (31.3%). The most common type of associated invasive carcinoma on surgical excision was invasive classical lobular carcinoma (ILC, 40 cases), followed by invasive pleomorphic lobular carcinoma (IPLC, 27 cases). Ductal no special type carcinoma, solid papillary and tubulo-lobular carcinoma were also identified. The size of PLCIS on excision ranged from 1-80mm. DCIS was associated in 26.7% of cases. The majority of invasive cancers were of grade 2 (53.5%) and 3 (19%). The tumors were ER positive (53 cases), PR positive (43 cases) and HER2 negative (52 cases). Conclusion PLCIS is an uncommon in situ carcinoma presenting via mammographic and also in the symptomatic setting. Unlike classical LCIS, PLCIS is a disease of postmenopausal women. It is multifocal in approximately one fifth of the cases. PLCIS is commonly associated with classical LCIS and both ILC and IPLC. When identified in core biopsy, the upgrade rate in this series was 30.4% which increased to 50% if the lesion co-existed with DCIS. The associated cancers are often ER positive, HER2 negative. These findings support managing those lesions surgically as per DCIS. Citation Format: Shaaban AM, Smith S, Bradley S, McMahon M, Sharma N. Pleomorphic lobular carcinoma in situ (PLCIS)-presentation, associated lesions and outcome. [abstract]. In: Proceedings of the Thirty-Eighth Annual CTRC-AACR San Antonio Breast Cancer Symposium: 2015 Dec 8-12; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2016;76(4 Suppl):Abstract nr P1-01-10.

Controlled Study of Obesity Among Adolescents with Bipolar Disorder.

Despite numerous studies regarding obesity (OB) in adult bipolar disorder (BP), there are few studies on this topic among adolescents. The current study attempts to extend the literature on prevalence and correlates of OB in adolescent BP by including control participants, and determining OB by direct measurement. Participants were 75 treatment-seeking adolescents, ages 13-19 years, with BP-I, -II, or -not otherwise specified, and 47 adolescents without major psychiatric illness. Diagnoses and clinical characteristics were assessed using the Kiddie Schedule for Affective Disorders and Schizophrenia for School Age Children, Present and Lifetime version (KSADS-PL). Family psychiatric history was assessed using the Family History Screen. OB was defined as adjusted body-mass index ≥95th percentile. Variables associated with OB in univariate analyses informed variable selection for within-group logistic regression analysis among BP adolescents. BP participants had a significantly higher rate of OB (18%) compared to controls (4%; χ2 = 5.3; p = 0.02). BP remained a significant predictor for OB when controlling for race (odds ratio [OR] = 5.1, 95% confidence interval [CI] = 1.1-24.0, p = 0.04). In univariate analyses among BP adolescents, OB was significantly associated with suicide attempt, self-injurious behavior, and oppositional defiant disorder. In multivariable analyses, suicide attempt and antidepressants that were not selective serotonin reuptake inhibitors were significantly associated with OB. OB is excessively prevalent among adolescents with BP and is associated with proxies for illness severity, including suicide attempts. Additional research is warranted to identify strategies to prevent and treat OB among BP adolescents, and to elucidate processes underlying the elevated risk of suicide attempts.

Perception and Practice of Undergoing Glaucoma Screening among Ophthalmologists

Background: Globally, glaucoma remains the leading cause of irreversible blindness. Early detection and treatment is mainstay of prevention of blindness from glaucoma. Purpose: This study was done to assess the perception and glaucoma screening practice of ophthalmologist in Nigeria. Methods: This is a cross-sectional descriptive study. A pretested structured questionnaire was administered to all the ophthalmologists who attended the general plenary session of the 2013 annual conference of the Ophthalmological Society of Nigeria (OSN). Result: Of the 115 respondents, 63 (54.8%) were females; mean age was 39.7 ± 9.3 years. Majority 69 (60.0%) were less than 40 years old. Presence of systemic risk factors to glaucoma was reported by 19 (16.5%), out of which 9 (47.4%) were hypertension, 2 (10.5%) were Diabetes Mellitus, 2 (10.5%) were other cardiovascular diseases, and 6 were unspecified others. Among the respondents, 28 (24.3%) had positive family history; 29 (25.2%) had Myopia; and 3 (2.6%) were known glaucoma patients already on treatment. Majority 91 (79.1%) had positive attitude towards glaucoma screening. Although 98 (85.2%) have ever had a full eye examination, only 56 (48.7%) were routine. There was no statistically significant relationship between sex, age group, religion, positive family history, professional status, attitude and glaucoma screening. Conclusion: The attitude of Nigerian Ophthalmologists to glaucoma screening was high but actual screening practice was below expectation in view of their presumed high knowledge of the risk of blindness from glaucoma. In-house campaign aimed at promoting self-glaucoma screening among this high-cadre eye care providers is warranted.

Epidemiological determinants of age for effective cervical and breast cancer screening in menopausal women

Background: Breast and cervical cancer screening play an important role in reducing cancer mortality. Family history and other screening tools are helpful in reducing cancer burden. Present study is focused on the impact of early screening of cervical and breast cancer on incidence of both cancers with focus on menopausal women ageing 30-70. Methods: It is an epidemiological study in Ajmer municipal area with retrospective and prospective recorded data on cervical and breast cancer screening. Factors which are not considered may drive the observed association Participants of current study were registered and diagnosed with cervical and breast cancer in different hospital of Ajmer municipal area between January 2011-March 2015.468 women aged 30-70 with invasive cervical and breast cancer diagnosed in different major hospitals of Ajmer municipal area. Control participants were matched on area of residence and by age-group. Association between cancer and screening at particular ages are co-related to determine odd ratios. Results: There is evidence that screening was associated with a 32% reduction of cervical cancer and 48% reduction of breast cancer in women aged 45.There is 41% reduction of cervical cancer and 52% reduction of breast cancer in women aged 55.There is no evidence of reduction in incidence of cervical and breast cancer at 35 (Odd Ratio 1.12, 95% confidence interval 0.84 to 1.52). Screening in later age reduces incidence and mortality from cervical and breast cancer. Conclusions: To significantly reduce the breast and cervical cancer mortality, screening should be sturdily intensified to improve long term effectiveness. Quality assessment of early screening should be done via early indicators. New screening modalities have been introduced and some of them should be gradually incorporated into society practice.

Aspirin and NSAID use in association with molecular subtypes of prostate cancer defined by TMPRSS2:ERG fusion status.

The TMPRSS2:ERG (T2E) gene fusion is the most common rearrangement in prostate cancer (PCa). It is unknown if these molecular subtypes have a different etiology. We evaluated aspirin and non-aspirin nonsteroidal anti-inflammatory drugs (NSAIDs) in association with T2E fusion status. Subjects were from a population-based case-control study of PCa. T2E fusion status for prostatectomy cases (n=346) was determined by fluorescence in situ hybridization. Medication use was determined from questionnaires. Logistic regression, controlling for age, race, PCa family history and PSA screening, was used to evaluate the association of T2E fusion status according to medication use. T2E fusion was present in 171 (49%) cases, with younger cases more likely to be fusion positive (P<0.01). Current aspirin use was associated with a 37% risk reduction of T2E-positive tumors (adjusted odds ratio (OR) 0.63, 95% confidence interval 0.43-0.93). Aspirin use was not associated with T2E negative PCa (adjusted OR 0.99, 0.69-1.42). There were no associations between PCa fusion status and use of nonaspirin NSAIDs or acetaminophen. Aspirin was associated with a significant reduction in the relative risk of T2E fusion positive, but not T2E negative, PCa. As inflammation and androgen pathways are implicated in prostate carcinogenesis, additional studies of anti-inflammatory medications in relation to these PCa subtypes are warranted.

Obsessive-compulsive symptoms are associated with psychiatric comorbidities, behavioral and clinical problems: a population-based study of Brazilian school children.

Pediatric-onset obsessive-compulsive disorder (OCD) is underdiagnosed, and many affected children are untreated. The present study seeks to evaluate the presence and the clinical impact of OCD and obsessive-compulsive symptoms (OCS) in a large sample of school-age children. In Phase I, we performed an initial screening using the Family History Screen (FHS). In Phase II, we identified an "at-risk" sample, as well as a randomly selected group of children. A total of 2,512 children (6-12 years old) were assessed using the FHS, the Development and Well-Being Assessment (DAWBA), the Strengths and Difficulties Questionnaire (SDQ), and the Child Behavior Checklist (CBCL). Data analyses included descriptive and multivariate analytical techniques. 2,512 children (mean age: 8.86 ± 1.84 years; 55.0% male) were categorized into one of the three diagnostic groups: OCD (n = 77), OCS (n = 488), and unaffected controls (n = 1,947). There were no significant socio-demographic differences (age, gender, socioeconomic status) across groups. The OCS group resembled the OCD on overall impairment, including school problems and delinquent behaviors. However, the OCD group did have significantly higher rates of several comorbid psychiatric disorders, including separation anxiety, generalized anxiety, and major depressive disorder, than OCS or unaffected controls. Moreover, the OCD group also scored higher than the SDQ, as well as on each of CBCL items rated by the parent. Our findings suggest that there is a psychopathological continuum between OCS and OCD in school-aged children. The presence of OCS is associated with functional impairment, which needs further investigation in longitudinal studies.

Practical opportunities to improve early detection and prevention of colorectal cancer (CRC) in members of high-risk families.

Colorectal cancer (CRC) incidence and mortality are steadily declining and CRC screening rates are increasing in the United States. Although this a very good news, several definable groups still have very low screening rates including younger (under age 50) members of high-risk CRC families. This opinion piece describes five strategies that could be incorporated into routine practice to improve identification and guideline-based screening in members of high-risk families. Routine incorporation of a simple family history screening tool and outreach to high-risk family members could substantially improve guideline-based screening in this population. Identification of CRCs and advanced adenomas in the endoscopy suite defines another group of high-risk families for similar outreach. Lynch syndrome families can be identified by testing CRCs and selected adenomas for microsatellite instability or loss of DNA repair protein expression. Finally, selective addition of aspirin to surveillance endoscopy can decrease the risk of new adenomas and CRCs. The rationale for these strategies as well as mechanisms for their implementation and evaluation in clinical practice is described.

Obsessive-compulsive symptom dimensions in a population-based, cross-sectional sample of school-aged children

BackgroundObsessive-compulsive disorder can be expressed as four potentially overlapping obsessive-compulsive symptom (OCS) dimensions (OCSD) (“symmetry/ordering”, “contamination/cleaning”, “aggressive/sexual/religious” and “collecting/hoarding”). In clinical samples, some dimensions are more familial and associated with increased psychiatric comorbidity and malfunctioning. However, data concerning OCS and OCSD are scarce in non-clinical samples, particularly among children. The present study aims to estimate: (1) the prevalence and sex/age distribution of OCS/OCSD in a community-based sample of schoolchildren; (2) the association between OCS and additional clinical factors; and (3) the degree of familial aggregation of OCS/OCSD. MethodsOCS and OCSD were evaluated in 9937 Brazilian school-children (6–12 years-old) and their biological relatives using the Family History Screen. Data analyses included gradient estimated equations and post-hoc tests. ResultsWe included data on 9937 index-children, 3305 siblings (13–18 years-old), and 16,218 parents. Biological mothers were the informants in 87.6% of the interviews. OCS were present in 14.7% of the index-children; 15.6% of their siblings; 34.6% of their mothers and 12.1% of their fathers. The prevalence of OCS and each of the OCSD gradually increased from ages 6 to 12 years. Overall, OCS in children were associated with the presence of other psychiatric symptoms, as well as behavioral/school impairment. OCS and each of the four OCSD aggregated significantly within families. ConclusionsOCS are prevalent and associated with psychiatric symptoms and clinical impairment among school-aged children. OCSD aggregate within families in a dimension-specific fashion. These findings suggest a natural continuum between OCS and OCD with regard to their dimensional character.

Correcting for bias in the selection and validation of informative diagnostic tests.

When developing a new diagnostic test for a disease, there are often multiple candidate classifiers to choose from, and it is unclear if any will offer an improvement in performance compared with current technology. A two-stage design can be used to select a promising classifier (if one exists) in stage one for definitive validation in stage two. However, estimating the true properties of the chosen classifier is complicated by the first stage selection rules. In particular, the usual maximum likelihood estimator (MLE) that combines data from both stages will be biased high. Consequently, confidence intervals and p-values flowing from the MLE will also be incorrect. Building on the results of Pepe et al. (SIM 28:762–779), we derive the most efficient conditionally unbiased estimator and exact confidence intervals for a classifier's sensitivity in a two-stage design with arbitrary selection rules; the condition being that the trial proceeds to the validation stage. We apply our estimation strategy to data from a recent family history screening tool validation study by Walter et al. (BJGP 63:393–400) and are able to identify and successfully adjust for bias in the tool's estimated sensitivity to detect those at higher risk of breast cancer. © 2015 The Authors. Statistics in Medicine published by John Wiley & Sons Ltd.

The TOMMY trial: a comparison of TOMosynthesis with digital MammographY in the UK NHS Breast Screening Programme--a multicentre retrospective reading study comparing the diagnostic performance of digital breast tomosynthesis and digital mammography with digital mammography alone.

Digital breast tomosynthesis (DBT) is a three-dimensional mammography technique with the potential to improve accuracy by improving differentiation between malignant and non-malignant lesions. The objectives of the study were to compare the diagnostic accuracy of DBT in conjunction with two-dimensional (2D) mammography or synthetic 2D mammography, against standard 2D mammography and to determine if DBT improves the accuracy of detection of different types of lesions. Women (aged 47-73 years) recalled for further assessment after routine breast screening and women (aged 40-49 years) with moderate/high of risk of developing breast cancer attending annual mammography screening were recruited after giving written informed consent. All participants underwent a two-view 2D mammography of both breasts and two-view DBT imaging. Image-processing software generated a synthetic 2D mammogram from the DBT data sets. In an independent blinded retrospective study, readers reviewed (1) 2D or (2) 2D + DBT or (3) synthetic 2D + DBT images for each case without access to original screening mammograms or prior examinations. Sensitivities and specificities were calculated for each reading arm and by subgroup analyses. Data were available for 7060 subjects comprising 6020 (1158 cancers) assessment cases and 1040 (two cancers) family history screening cases. Overall sensitivity was 87% [95% confidence interval (CI) 85% to 89%] for 2D only, 89% (95% CI 87% to 91%) for 2D + DBT and 88% (95% CI 86% to 90%) for synthetic 2D + DBT. The difference in sensitivity between 2D and 2D + DBT was of borderline significance (p = 0.07) and for synthetic 2D + DBT there was no significant difference (p = 0.6). Specificity was 58% (95% CI 56% to 60%) for 2D, 69% (95% CI 67% to 71%) for 2D + DBT and 71% (95% CI 69% to 73%) for synthetic 2D + DBT. Specificity was significantly higher in both DBT reading arms for all subgroups of age, density and dominant radiological feature (p < 0.001 all cases). In all reading arms, specificity tended to be lower for microcalcifications and higher for distortion/asymmetry. Comparing 2D + DBT to 2D alone, sensitivity was significantly higher: 93% versus 86% (p < 0.001) for invasive tumours of size 11-20 mm. Similarly, for breast density 50% or more, sensitivities were 93% versus 86% (p = 0.03); for grade 2 invasive tumours, sensitivities were 91% versus 87% (p = 0.01); where the dominant radiological feature was a mass, sensitivities were 92% and 89% (p = 0.04) For synthetic 2D + DBT, there was significantly (p = 0.006) higher sensitivity than 2D alone in invasive cancers of size 11-20 mm, with a sensitivity of 91%. The specificity of DBT and 2D was better than 2D alone but there was only marginal improvement in sensitivity. The performance of synthetic 2D appeared to be comparable to standard 2D. If these results were observed with screening cases, DBT and 2D mammography could benefit to the screening programme by reducing the number of women recalled unnecessarily, especially if a synthetic 2D mammogram were used to minimise radiation exposure. Further research is required into the feasibility of implementing DBT in a screening setting, prognostic modelling on outcomes and mortality, and comparison of 2D and synthetic 2D for different lesion types. Current Controlled Trials ISRCTN73467396. This project was funded by the NIHR Health Technology Assessment programme and will be published in full in Health Technology Assessment; Vol. 19, No. 4. See the HTA programme website for further project information.

Performance characteristics of a brief Family History Questionnaire to screen for Lynch syndrome in women with newly diagnosed endometrial cancer

ObjectiveThe brief Family History Questionnaire (bFHQ) was developed to identify endometrial cancer patients whose family histories suggest Lynch syndrome (LS). We compared the bFHQ, extended Family History Questionnaire (eFHQ) and dictated medical records (DMRs) to determine which family history screening strategy is superior in identifying LS in unselected women with newly diagnosed endometrial cancer that have undergone universal germline testing. MethodsProspective cohort study recruited women with newly diagnosed endometrial cancer to evaluate screening strategies to identify LS. Participants completed bFHQ and eFHQ, had tumor assessed with immunohistochemistry (IHC) for mismatch repair proteins (MMR) and micro-satellite instability testing and underwent universal germline testing for LS. The sensitivity, specificity, positive and negative predictive values (PPV, NPV) were compared between the family history screening strategies as well as IHC. Results118 of 182 eligible patients (65%) consented; 87 patients (74%) were evaluable with both family history and germline mutation status. Median age was 61years (range 26–91). All 7 patients with confirmed LS were correctly identified by bFHQ, compared to 5 and 4 by eFHQ and DMR, respectively. The sensitivity, specificity, PPV and NPV values of bFHQ were 100%, 76.5%, 25.9% and 100%, respectively, performing similar to IHC testing. While eFHQ was more specific than bFHQ (86.7% vs. 76.5%, P=0.007), 2 cases of LS were missed. ConclusionsThe patient-administered bFHQ effectively identified women with confirmed LS and is a good screening tool to triage women with endometrial cancer for further genetic assessment.

A qualitative evaluation of the psychosocial impact of family history screening in Australian primary care.

Whilst the family history is perceived as a routine part of the medical family history it is not used in a systematic way to tailor disease prevention in primary care. Family history questionnaires (FHQs) may have an important role in primary care as a screening tool to support tailored disease prevention. The potential harms and benefits of family history screening in primary care require investigation before routine adoption. This study aimed: first to explore the experience and impact of family history collection via a novel family history questionnaire and subsequent familial risk assessment, and secondly, to assess the acceptability and feasibility of using the questionnaire in Australian primary care. Twenty-eight semi-structured telephone interviews were conducted with patients already enrolled in a family history screening study through their family physician. Qualitative constant comparative analysis was undertaken of transcript data. Common themes included the way in which the family unit, individual stage of life and a number of external triggers interact and contribute to how an individual comes to terms with familial disease risk. Unique findings emerged relating to the Australian perspective of participants. Living in Australia created a barrier to effective communication amongst family members about family health, and family history collection. In addition to the vast geographical distance both within Australia, and between Australia and other countries, there was an additional sense of isolation described within an historical context. The family history screening questionnaire was considered user-friendly and a worthwhile approach to supporting disease prevention in primary care, although some participants did not retain an accurate understanding of their familial cancer risk. In conclusion, a person's response to family history screening is reliant on a complex interplay of family, personal and external factors, which in turn are driven by their stage of life. The impact of immigration and geographic isolation from family members may further complicate a person's response to undertaking family history screening.

Regional differences in fiber tractography predict neurodevelopmental outcomes in neonates with infantile Krabbe disease.

BackgroundKrabbe disease is a fatal neurodegenerative disease caused by rapid demyelination of the central and peripheral nervous systems. The only available treatment, unrelated umbilical cord blood transplantation, is effective only if performed before clinical symptoms appear. Phenotypic expressions of disease-causing mutations vary widely, but genotype–phenotype relationships are unclear. Therefore, we evaluated diffusion tensor imaging (DTI) tractography with volumetric analysis as a biomarker of early white matter changes and functional disability in presymptomatic infants.MethodsWe obtained DTI and structural scans of newborns with early-infantile Krabbe disease (n = 9) diagnosed by family history or newborn screening. We compared white matter fiber tract properties to those of normal controls (n = 336) and assessed the ability of tract-based properties to predict longitudinal development in four functional domains (cognitive, fine motor, gross motor, adaptive behavior) after treatment with unrelated umbilical cord blood transplantation. We also assessed the relationship between the standard evaluation (modified Loes score) and DTI results, and the volumetric differences between the Krabbe subjects and normal controls.FindingsReductions in fractional anisotropy were significant in the corticospinal tract in the Krabbe patients compared to controls, which strongly correlated with motor and cognitive outcomes after transplantation. Significant regional differences were observed in the splenium and uncinate fasciculus in Krabbe patients and these differences correlated only with cognitive outcomes. Regional brain volumes of Krabbe patients were slightly larger than controls. Loes scores did not correlate with DTI results.InterpretationNeonatal microstructural abnormalities correlate with neurodevelopmental treatment outcomes in patients treated for infantile Krabbe disease. DTI with quantitative tractography is an excellent biomarker for evaluating infants with Krabbe disease identified through newborn screening.

Development and validation of a family history screening questionnaire in Australian primary care.

We aimed to validate a family history screening questionnaire in an Australian primary care population designed to identify people at increased risk for breast, ovarian, colorectal, and prostate cancer; melanoma; ischemic heart disease; and type 2 diabetes. We prospectively validated the questionnaire in 6 general practices in Perth, Western Australia among 526 patients aged 20 to 50 years who responded to a single invitation from their general practice. They completed the 15-item questionnaire before a reference standard 3-generation pedigree was obtained by a genetic counselor blinded to the questionnaire responses. We calculated diagnostic performance statistics for the questionnaire using the pedigree as the reference standard. A combination of 9 questions had the following diagnostic performance, expressed as value (95% CI), to identify increased risk of any of the 7 conditions: area under the receiver operating characteristic curve 84.6% (81.2%-88.1%), 95% sensitivity (92%-98%), and 54% specificity (48%-60%). The combination of questions to detect increased risk had sensitivity of 92% (84%-99%) and 96% (93%-99%) for the 5 and 6 conditions applicable only to men and women, respectively. The specificity was 63% (28%-52%) for men and 49% (42%-56%) for women. The positive predictive values were 67% (56%-78%) and 68% (63%-73%), and the false-positive rates were 9% (0.5%-17%) and 9% (3%-15%) for men and women, respectively. This simple family history screening questionnaire shows good performance for identifying primary care patients at increased disease risk because of their family history. It could be used in primary care as part of a systematic approach to tailored disease prevention.

G354 Pattern of new outpatient referrals to a tertiary paediatric cardiology unit

BackgroundWe compared outpatient practice in a tertiary cardiac unit in two time-cohorts to monitor changes to practice.AimsTo identify changing patterns of referrals to a tertiary paediatric cardiology unit, looking at...

Separation Anxiety, Social Phobia and Generalized Anxiety Disorders in the Chilean Epidemiological Study of Children and Adolescents

The prevalence, correlates, comorbidity and service use of three anxiety disorders in a broad sample of Chilean children and adolescents is reported in this study. The disorders studied were Separation anxiety (SAD), Generalized anxiety (GAD) and Social anxiety. Data were obtained from an extensive epidemiological study of psychiatric disorders in the community. DSM-IV diagnoses were assessed by means of the DISC-IV interview, demographic and family variables through the family assessment device and family history screen instrument, as well as the services provided by the Service Assessment Instrument. Prevalence with significant impairment for Separation anxiety was 4.8%, for social phobia, 3.7%, for generalized anxiety 3.2%, and 8.3% for any of the three disorders. Associated risk variables were as follows: low family income, family psychopathology, living with only one parent, maltreatment. A positive evaluation of family functioning was a protective factor against disorders. A high degree of comorbidity between the three anxiety disorders and with other groups of disorders was observed. The services were used by 22.3% of the children and adolescents diagnosed with any of the three anxiety disorders and within them, school based services were the most used. Findings are discussed and compared with other studies

Separation Anxiety, Social Phobia and Generalized Anxiety Disorders in the Chilean Epidemiological Study of Children and Adolescents

The prevalence, correlates, comorbidity and service use of three anxiety disorders in a broad sample of Chilean children and adolescents is reported in this study. The disorders studied were Separation anxiety (SAD), Generalized anxiety (GAD) and Social anxiety. Data were obtained from an extensive epidemiological study of psychiatric disorders in the community. DSM-IV diagnoses were assessed by means of the DISC-IV interview, demographic and family variables through the family assessment device and family history screen instrument, as well as the services provided by the Service Assessment Instrument. Prevalence with significant impairment for Separation anxiety was 4.8%, for social phobia, 3.7%, for generalized anxiety 3.2%, and 8.3% for any of the three disorders. Associated risk variables were as follows: low family income, family psychopathology, living with only one parent, maltreatment. A positive evaluation of family functioning was a protective factor against disorders. A high degree of comorbidity between the three anxiety disorders and with other groups of disorders was observed. The services were used by 22.3% of the children and adolescents diagnosed with any of the three anxiety disorders and within them, school based services were the most used. Findings are discussed and compared with other studies

Verifying patient information in the colorectal family history clinic

The national colorectal family history screening guidelines categorise risk on the basis of the incidence of familial cancer, type of cancer, age, and genetic proximity. Appropriate assessment of risk involves obtaining detailed, relevant, and accurate family history information. An incorrect assessment can result in high- or medium-risk patients not receiving tests, or low-risk patients being subjected to unnecessary invasive and costly colonoscopies. The majority of asymptomatic referrals to nurse-led colorectal family-history screening clinics (CFHSC) are from primary care. Information provided by the GP is nonstandardised and can often be inaccurate. CFHSCs expend significant resources to improve the accuracy and relevance of family history information. This is done using a patient questionnaire and verifying the information against medical records and the Cancer Registry. This study aims to quantify the benefits of this verification process.

Breast cancer risk assessment in 8,824 women attending a family history evaluation and screening programme

Accurate individualized breast cancer risk assessment is essential to provide risk-benefit analysis prior to initiating interventions designed to lower breast cancer risk and start surveillance. We have previously shown that a manual adaptation of Claus tables was as accurate as the Tyrer-Cuzick model and more accurate at predicting breast cancer than the Gail, Claus model and Ford models. Here we reassess the manual model with longer follow up and higher numbers of cancers. Calibration of the manual model was assessed using data from 8,824 women attending the family history evaluation and screening programme in Manchester UK, with a mean follow up of 9.71 years. After exclusion of 40 prevalent cancers, 406 incident breast cancers occurred, and 385.1 were predicted (O/E = 1.05, 95 % CI 0.95-1.16) using the manual model. Predictions were close to that of observed cancers in all risk categories and in all age groups, including women in their forties (O/E = 0.99, 95 % CI 0.83-1.16). Manual risk prediction with use of adjusted Claus tables and curves with modest adjustment for hormonal and reproductive factors was a well-calibrated approach to breast cancer risk estimation in a UK family history clinic.

Association between documented family history of cancer and screening for breast and colorectal cancer

BackgroundPrevious research on ascertainment of cancer family history and cancer screening has been conducted in urban settings. PurposeTo examine whether documented family history of breast or colorectal cancer is associated with breast or colorectal cancer screening. MethodsMedical record reviews were conducted on 3433 patients aged 55 and older from four primary care practices in two rural Oregon communities. Data collected included patient demographic and risk information, including any documentation of family history of breast or colorectal cancer, and receipt of screening for these cancers. ResultsA positive breast cancer family history was associated with an increased likelihood of being up-to-date for mammography screening (OR 2.09, 95% CI 1.45–3.00 relative to a recorded negative history). A positive family history for colorectal cancer was associated with an increased likelihood of being up-to-date with colorectal cancer screening according to U.S. Preventive Services Task Force low risk guidelines for males (OR 2.89, 95% CI 1.15–7.29) and females (OR 2.47, 95% CI 1.32–4.64) relative to a recorded negative family history. The absence of any recorded family cancer history was associated with a decreased likelihood of being up-to-date for mammography screening (OR 0.70, 95% CI 0.56–0.88 relative to recorded negative history) or for colorectal cancer screening (OR 0.75, 95% CI 0.60–0.96 in females, OR 0.68, 95% CI 0.53–0.88 in males relative to recorded negative history). ConclusionFurther research is needed to determine if establishing routines to document family history of cancer would improve appropriate use of cancer screening.