Moderators of Age of Diagnosis in > 20,000 Females with Autism in Two Large US Studies

In the completion of my practicum at the Public Health Agency of Canada (PHAC) this summer, I worked to develop a surveillance knowledge product to support the national surveillance of developmental disorders. This project used Statistics Canada’s 2017 Canadian Survey on Disability to investigate the burden of developmental disorders in Canada. Developmental disorders are conditions with onset in the developmental period. They are associated with developmental deficits and impairments of personal, social, academic, and occupational function. The project objectives are to estimate the prevalence of developmental disorders in Canadians 15 years of age or older, overall and by age and sex, as well as report on the age of diagnosis, disability severity, and disability co-occurrence in those with developmental disorders. The majority of the analysis has been completed and preliminary results completed, which cannot be released prior to PHAC publication. Although not highly prevalent, developmental disorders are associated with a high level of disability in young Canadians. Early detection and interventions have been shown to improve health and social outcomes among affected individuals. Understanding the burden of developmental disorders in Canada is essential to the development of public health policies and services.

Download Full-text

Issues and Trends in Studies related to Features and Experiences of Females with Autism Spectrum Disorders

10.33729/kapa.2019.2.2 ◽

2019 ◽

Vol 19 (2) ◽

pp. 39-58

Author(s):

Hyo Jung Lee

Keyword(s):

Autism Spectrum Disorders ◽

Autism Spectrum ◽

Females With Autism ◽

Spectrum Disorders

Download Full-text

Age of diagnosis of fibrodysplasia ossificans progressiva has a variable onset and a misleading phenotype

Bone Abstracts ◽

10.1530/boneabs.5.p473 ◽

2016 ◽

Author(s):

Kaissi Ali Al ◽

Vladimir Kenis ◽

Maher Ben Ghachem ◽

Jochen Hofstatter ◽

Franz Grill ◽

...

Keyword(s):

Fibrodysplasia Ossificans Progressiva ◽

Age Of Diagnosis

Download Full-text

National Estimates of Genetic Testing in Women With a History of Breast or Ovarian Cancer

Journal of Clinical Oncology ◽

10.1200/jco.2017.73.6314 ◽

2017 ◽

Vol 35 (34) ◽

pp. 3800-3806 ◽

Cited By ~ 112

Author(s):

Christopher P. Childers ◽

Kimberly K. Childers ◽

Melinda Maggard-Gibbons ◽

James Macinko

Keyword(s):

Ovarian Cancer ◽

Genetic Testing ◽

Unmet Need ◽

Cancer Control ◽

The United States ◽

Eligibility Criteria ◽

Cross Sectional ◽

Age Of Diagnosis ◽

History Of ◽

Interview Survey

Purpose In the United States, 3.8 million women have a history of breast (BC) or ovarian cancer (OC). Up to 15% of cases are attributable to heritable mutations, which, if identified, provide critical knowledge for treatment and preventive care. It is unknown how many patients who are at high risk for these mutations have not been tested and how rates vary by risk criteria. Methods We used pooled cross-sectional data from three Cancer Control Modules (2005, 2010, 2015) of the National Health Interview Survey, a national in-person household interview survey. Eligible patients were adult females with a history of BC and/or OC meeting select 2017 National Comprehensive Cancer Network eligibility criteria on the basis of age of diagnosis and family history. Outcomes included the proportion of individuals reporting a history of discussing genetic testing with a health professional, being advised to undergo genetic testing, or undergoing genetic testing for BC or OC. Results Of 47,218 women, 2.7% had a BC history and 0.4% had an OC history. For BC, 35.6% met one or more select eligibility criteria; of those, 29.0% discussed, 20.2% were advised to undergo, and 15.3% underwent genetic testing. Testing rates for individual eligibility criteria ranged from 6.2% (relative with OC) to 18.2% (diagnosis ≤ 45 years of age). For OC, 15.1% discussed, 13.1% were advised to undergo, and 10.5% underwent testing. Using only four BC eligibility criteria and all patients with OC, an estimated 1.2 to 1.3 million individuals failed to receive testing. Conclusion Fewer than one in five individuals with a history of BC or OC meeting select National Cancer Comprehensive Network criteria have undergone genetic testing. Most have never discussed testing with a health care provider. Large national efforts are warranted to address this unmet need.

Download Full-text

Age of diagnosis in familial Barrett’s associated neoplasia

Familial Cancer ◽

10.1007/s10689-021-00239-z ◽

2021 ◽

Author(s):

Benita K. Glamour ◽

Omar Alaber ◽

Gino Cioffi ◽

Apoorva K. Chandar ◽

Jill Barnholtz-Sloan ◽

...

Keyword(s):

Age Of Diagnosis

Download Full-text

Patterns of Care and Outcomes of Primary Adenoid Cystic Carcinoma of the Trachea

Annals of Otology Rhinology & Laryngology ◽

10.1177/00034894211008101 ◽

2021 ◽

pp. 000348942110081

Author(s):

Sara Behbahani ◽

Gregory L. Barinsky ◽

David Wassef ◽

Boris Paskhover ◽

Rachel Kaye

Keyword(s):

Radiation Therapy ◽

Adenoid Cystic Carcinoma ◽

Surgical Resection ◽

Proportional Hazards ◽

Invasive Disease ◽

Cox Proportional Hazards ◽

Tumor Diameter ◽

Adenoid Cystic ◽

Cox Proportional Hazards Models ◽

Age Of Diagnosis

Objective: Primary tracheal malignancies are relatively rare cancers, representing 0.1% to 0.4% of all malignancies. Adenoid cystic carcinoma (ACC) is the second most common histology of primary tracheal malignancy, after squamous cell carcinoma. This study aims to analyze demographic characteristics and potential influencing factors on survival of tracheal ACC (TACC). Methods: This was a retrospective cohort study utilizing the National Cancer Database (NCDB). The NCDB was queried for all cases of TACC diagnosed from 2004 to 2016 (n = 394). Kaplan-Meier (KM) and Cox proportional-hazards models were used to determine clinicopathological and treatment factors associated with survival outcomes. Results: Median age of diagnosis was 56 (IQR: 44.75-66.00). Females were affected slightly more than males (53.8% vs 46.2%). The most prevalent tumor diameter range was 20 to 39 mm (34.8%) followed by greater than 40 mm in diameter (17.8%). Median overall survival (OS) was 9.72 years with a 5- and 10-year OS of 70% and 47.5%, respectively. Localized disease was not associated with a survival benefit over invasive disease ( P = .388). The most common intervention was surgery combined with radiation therapy (RT) at 46.2%, followed by surgery alone (16.8%), and standalone RT (8.9%). When adjusting for confounders, surgical resection was independently associated with improved OS (HR 0.461, 95% CI 0.225-0.946). Tumor size greater than 40 mm was independently associated with worse OS (HR 2.808; 95% CI 1.096-7.194). Conclusion: Our data suggests that surgical resection, possibly in conjunction with radiation therapy, is associated with improved survival, and tumor larger than 40 mm are associated with worse survival.

Download Full-text

33. Concerning Trends of Pediatric Leprosy in Minas Gerais, Brazil and Associations with Number of Municipality Medical Facilities

Open Forum Infectious Diseases ◽

10.1093/ofid/ofaa417.032 ◽

2020 ◽

Vol 7 (Supplement_1) ◽

pp. S17-S17

Author(s):

Taylor Landay ◽

Julie A Clennon ◽

José A Ferreira ◽

Lucia A Fraga ◽

Maria Aparecida F Grossi ◽

...

Keyword(s):

Cross Sectional Study ◽

Minas Gerais ◽

Chi Square ◽

Cross Sectional ◽

Period 2 ◽

Time Period ◽

Medical Facilities ◽

Age Of Diagnosis ◽

Using Data ◽

Incident Cases

Abstract Background Leprosy in children under 15 years of age, and in particular, the presence of leprosy grade 2 disability (G2D) in children, signifies ongoing transmission and the need for improved surveillance. Our objective was to describe the epidemiology of pediatric leprosy in Minas Gerais, Brazil and to explore associations with access to medical facilities. Methods A cross-sectional study was conducted using data from the Brazilian Notifiable Diseases Surveillance System (SINAN) from 2002–2017. Incident cases were included if they resided in a municipality with both adult and pediatric cases. Municipalities were divided by the number of medical facilities per municipality: < 5, 5–17, and 18 or higher. Analyses compared pediatric cases across two time periods (2002–2009 and 2010–2017) and number of medical facilities / municipality using chi-square, t-tests, and logistic regression. Results A total of 27,725 cases were reported with 1,611 under 15 years of age. Overall incidence declined from 34.8 per 100,000 to 13.6 per 100,000 during the study period with pediatric incidence declining from 2.6 per 100,000 to 0.8 per 100,000. Time period 2 (TP2) showed an increase in the proportion of pediatric G2D (2.58% vs 1.91%, p < 0.0001) when compared to time period 1 (TP1). Mean age of diagnosis in children was younger in TP2 then in TP1 (10.06 vs 10.43, p=0.02). In 2017, the pediatric incidence in municipalities with the fewest medical facilities was 0.95 per 100,000 compared to 0.23 per 100,000 in municipalities with > 5 facilities (p=0.009). There was significantly higher odds of disability at diagnosis (grades 1 and 2) in pediatric cases residing in municipalities with < 5 medical facilities (aOR 1.88; 95% CI 1.37–2.59), adjusted for age and sex. See map (Fig 1). Figure 1. Cases of Pediatric Disability By Number of Municipality Medical Facilities from 2002–2017 (White areas without reported pediatric leprosy) Conclusion The increasing proportion of G2D in children in the second half of the study period despite declining incidence suggest occult infections among children and adults alike in Minas Gerais. Furthermore, the average age of diagnosis in children should increase, not decrease, if M. leprae transmission was truly declining. Lastly, the association between fewer municipality health facilities and increased disability suggest barriers to timely diagnosis and a critical area of focus for research into access to healthcare and leprosy risk. Disclosures All Authors: No reported disclosures

Download Full-text

Assessment of genetic referrals and outcomes for women with triple negative breast cancer in regional cancer centres in Australia

Hereditary Cancer in Clinical Practice ◽

10.1186/s13053-021-00176-z ◽

2021 ◽

Vol 19 (1) ◽

Author(s):

Lucie G. Hallenstein ◽

Carol Sorensen ◽

Lorraine Hodgson ◽

Shelly Wen ◽

Justin Westhuyzen ◽

...

Keyword(s):

Breast Cancer ◽

Genetic Testing ◽

Triple Negative Breast Cancer ◽

Triple Negative ◽

Cancer Genetics ◽

Eligibility Criteria ◽

Pathogenic Variants ◽

Genetics Services ◽

Age Of Diagnosis ◽

Over Time

Abstract Background Guidelines for referral to cancer genetics service for women diagnosed with triple negative breast cancer have changed over time. This study was conducted to assess the changing referral patterns and outcomes for women diagnosed with triple negative breast cancer across three regional cancer centres during the years 2014–2018. Methods Following ethical approval, a retrospective electronic medical record review was performed to identify those women diagnosed with triple negative breast cancer, and whether they were referred to a genetics service and if so, the outcome of that genetics assessment and/or genetic testing. Results There were 2441 women with newly diagnosed breast cancer seen at our cancer services during the years 2014–2018, of whom 237 women were diagnosed with triple negative breast cancer. Based on age of diagnosis criteria alone, 13% (31/237) of our cohort fulfilled criteria for genetic testing, with 81% (25/31) being referred to a cancer genetics service. Of this group 68% (21/31) were referred to genetics services within our regions and went on to have genetic testing with 10 pathogenic variants identified; 5x BRCA1, 4x BRCA2 and × 1 ATM:c.7271 T > G. Conclusions Referral pathways for women diagnosed with TNBC to cancer genetics services are performing well across our cancer centres. We identified a group of women who did not meet eligibility criteria for referral at their time of diagnosis, but would now be eligible, as guidelines have changed. The use of cross-discipline retrospective data reviews is a useful tool to identify patients who could benefit from being re-contacted over time for an updated cancer genetics assessment.

Download Full-text