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1.
Heliyon ; 10(8): e29223, 2024 Apr 30.
Article in English | MEDLINE | ID: mdl-38644841

ABSTRACT

Objective: During the first year of the COVID-19 pandemic, most of the Centers for Disease Control and Prevention (CDC)'s National Breast and Cervical Cancer Early Detection Program (NBCCEDP) funded programs (recipients) experienced significant declines in breast and cervical cancer screening volume. However, 6 recipients maintained breast and/or cervical cancer screening volume during July-December 2020 despite their states' high COVID-19 test percent positivity. We led a qualitative multi-case study to explore these recipients' actions that may have contributed to screening volume maintenance. Methods: We conducted 22 key informant interviews with recipients, screening provider sites, and partner organizations. Interviews explored organizational and operational changes; screening barriers; actions taken to help maintain screening volume; and support for provider sites to continue screening. We documented contextual factors that may have influenced these actions, including program structures; clinic capacity; and state COVID-19 policies. Results: Thematic analysis revealed crosscutting themes at the recipient, provider site, and partner levels. Recipients made changes to administrative processes to reduce burden on provider sites and delivered tailored technical assistance to support safe screening. Provider sites modified clinic protocols to increase patient safety, enhanced patient reminders for upcoming appointments, and increased patient education on the importance of timely screening during the pandemic. Partners worked with provider sites to identify and reduce patients' structural barriers to screening. Conclusion: Study findings provide lessons learned to inform emergency preparedness-focused planning and operations, as well as routine operations for NBCCEDP recipient programs, other cancer screening initiatives, primary care clinics, and chronic disease prevention programs.

2.
Am J Geriatr Psychiatry ; 32(1): 58-67, 2024 01.
Article in English | MEDLINE | ID: mdl-37827916

ABSTRACT

OBJECTIVE: Prior studies have reported an association between depression and quality of life (QOL) in Alzheimer's disease (AD), but the effect of self- versus proxy rating of mood and QOL has not been described. DESIGN: In this secondary analysis of data from a cohort study, the authors used a linear mixed-effects model to determine if the association between depression and QOL is affected by whether both measures are assessed by the same member of the patient-caregiver dyad. SETTING: Participants and caregiver informants were recruited from 10 California Alzheimer Disease Centers. PARTICIPANTS: A total of 137 participants with mild-to-moderate Alzheimer's disease and their caregivers. MEASUREMENTS: Self- and proxy-rated scores on both the Geriatric Depression Scale (GDS) and the Quality of Life in Alzheimer's Disease scale (QoL-AD). Multivariable linear mixed-effects models were used to estimate the association between depression and QOL. RESULTS: Results of the multivariable linear mixed-effects models showed a significant association between self-rated QoL-AD and self-rated (B = -0.49, p <0.0001) but not proxy-rated GDS (B = -0.07, p = 0.19) after adjusting for confounders. Likewise, there was a significant association between proxy-rated QoL-AD and proxy-rated GDS (B = -0.48, p <0.0001) but not self-rated GDS (B = 0.05, p = 0.36). CONCLUSION: Depression was associated with QOL in AD over short-term longitudinal follow-up, but the association was not statistically significant if both instruments are not administered to the same member of the patient-caregiver dyad. The choice of self- versus proxy-reported QOL should be intentionally considered in future studies as it may influence reported outcomes.


Subject(s)
Alzheimer Disease , Humans , Aged , Alzheimer Disease/complications , Quality of Life , Depression/epidemiology , Depression/complications , Cohort Studies , Neuropsychological Tests , Psychiatric Status Rating Scales , Caregivers
3.
Psychol Trauma ; 2023 Aug 31.
Article in English | MEDLINE | ID: mdl-37650802

ABSTRACT

OBJECTIVE: Though research on secondary traumatic stress (STS) has greatly increased in the past decade, to date the field lacks a coherent set of guiding principles for practice that behavioral health providers and organizations can use to mitigate the occurrence and impact of STS. As such it is important to identify effective strategies, grounded in research and professional experience, to reduce the occurrence and impact of STS among behavioral health professionals and organizations. METHOD: We conducted a four-stage modified Delphi survey. Thirty-one international STS experts were invited to participate, with a minimum of 19 responding in each round. Thematic analysis was conducted on qualitative data, which was incorporated into revisions of the principles. RESULTS: Consensus was achieved on 14 principles, seven targeted at individual professionals, and seven targeted at organizations. CONCLUSIONS: This is the first effort to delineate principles for practice intended to reduce the occurrence and impact of STS in individual and organizational practice in behavioral health services. The principles are intended to inform best practices for individuals and organizations providing services to persons and communities who have experienced trauma and thereby improve the quality and effectiveness of services to traumatized populations. (PsycInfo Database Record (c) 2023 APA, all rights reserved).

4.
J Appl Gerontol ; 42(4): 617-626, 2023 04.
Article in English | MEDLINE | ID: mdl-36482678

ABSTRACT

California's In-Home Supportive Services (IHSS) program provides vital home care to low-income consumers, some of whom live with Alzheimer's disease or related dementias (ADRD). Yet, most IHSS caregivers receive little or no training in dementia care. We present preliminary descriptive results of the IHSS + ADRD Training Project, a 10-week, competency-based, dementia training program, delivered online, for IHSS caregivers, in Alameda County. Increase in dementia knowledge and self-efficacy at training completion supports the importance of continuing and expanding this work.


Subject(s)
Alzheimer Disease , Home Care Services , Humans , Caregivers/education , Self Efficacy , Poverty
5.
Prev Chronic Dis ; 19: E25, 2022 05 12.
Article in English | MEDLINE | ID: mdl-35550244

ABSTRACT

Evidence-based interventions, including provider assessment and feedback, provider reminders, patient reminders, and reduction of structural barriers, improve colorectal cancer screening rates. Assessing primary care clinics' readiness to implement these interventions can help clinics use strengths, identify barriers, and plan for success. However, clinics may lack tools to assess readiness and use findings to plan for successful implementation. To address this need, we developed the Field Guide for Assessing Readiness to Implement Evidence-Based Cancer Screening Interventions (Field Guide) for the Centers for Disease Control and Prevention's (CDC's) Colorectal Cancer Control Program (CRCCP). We conducted a literature review of evidence and existing tools to measure implementation readiness, reviewed readiness tools from selected CRCCP award recipients (n = 35), and conducted semi-structured interviews with key informants (n = 8). We sought feedback from CDC staff and recipients to inform the final document. The Field Guide, which is publicly available online, outlines 4 assessment phases: 1) convene team members and determine assessment activities, 2) design and administer the readiness assessment, 3) evaluate assessment data, and 4) develop an implementation plan. Assessment activities and tools are included to facilitate completion of each phase. The Field Guide integrates implementation science and practical experience into a relevant tool to bolster clinic capacity for implementation, increase potential for intervention sustainability, and improve colorectal cancer screening rates, with a focus on patients served in safety net clinic settings. Although this tool was developed for use in primary care clinics for cancer screening, the Field Guide may have broader application for clinics and their partners for other chronic diseases.


Subject(s)
Colorectal Neoplasms , Early Detection of Cancer , Centers for Disease Control and Prevention, U.S. , Colorectal Neoplasms/diagnosis , Colorectal Neoplasms/prevention & control , Humans , Primary Health Care , Safety-net Providers , United States
6.
Intellect Dev Disabil ; 60(3): 212-225, 2022 06 01.
Article in English | MEDLINE | ID: mdl-35640607

ABSTRACT

Because many large, state-owned Intermediate Care Facilities for Individuals With Intellectual Disabilities (ICF/IIDs) have closed or downsized, their average size has fallen markedly, as has the number that are publicly owned. We probe the relationship between ownership type and four measures of care quality in ICF/IIDs. Data on deficiency citations suggest that for-profits underperform other ownership types, although data on complaints show no clear pattern. Meanwhile, data on staffing ratios and restrictive behavior management practices, based mostly on facility self-reports, generally tell the opposite story. Our results lend some credence to concerns regarding inadequate care in for-profit ICF/IIDs, while underscoring the importance of requiring ICF/IID operators to report more comprehensive, longitudinal data that are less prone to error and reporting bias.


Subject(s)
Intellectual Disability , Intermediate Care Facilities , Humans , Nursing Homes , Ownership , Quality of Health Care
7.
Article in English | MEDLINE | ID: mdl-35270729

ABSTRACT

Public health agencies have played a critical role in addressing the complex health and mental health needs of cancer survivors. We conducted a mixed-methods evaluation via a Web-based survey (n = 51) and focus groups (n = 11) with National Comprehensive Cancer Control Program (NCCCP) recipients and interviews (n = 9) with survivors, health care providers (HCPs), and patient navigators to explore these audiences' cancer survivorship information needs and strategies to improve resource dissemination. Participants revealed a need for tailored resources and support for survivors on healthy lifestyle, post-treatment survivorship concerns, psychosocial health, and navigating the health system. HCP needs included education on survivorship care plans and care coordination to facilitate the transition between oncology and primary care. HCPs were survivors' most trusted source for information; however, participants noted difficulties engaging HCPs in survivorship care. These findings can help public health practitioners focus their efforts to better meet the needs of cancer survivors and their HCPs.


Subject(s)
Cancer Survivors , Neoplasms , Cancer Survivors/psychology , Health Personnel , Humans , Medical Oncology/methods , Neoplasms/therapy , Survivors , Survivorship
8.
AIDS Behav ; 26(Suppl 1): 51-89, 2022 Jan.
Article in English | MEDLINE | ID: mdl-34263349

ABSTRACT

Stigma may contribute to HIV disparities for men who have sex with men (MSM). This systematic review quantified the effects of HIV stigma interventions for MSM on stigma and sex risk. We conducted a systematic search to identify US-based studies published between 2000 and June 2019 focused on HIV and MSM, and either measured stigma pre-post or included a stigma intervention component. Twenty-nine articles, representing 26 unique studies met inclusion criteria. Random effect models showed no intervention effect for reducing stigma and a non-significant increase in HIV testing. Significant decreases in condomless sex with males, condomless sex with females, and substance-influenced sex were found. Few intervention studies measured stigma pre-post. Findings suggest that including a stigma reduction component in interventions can improve HIV testing and reduce sex risk for MSM. Developing interventions to address stigma may be important in decreasing HIV infection among MSM and ending the HIV epidemic.


Subject(s)
HIV Infections , Sexual and Gender Minorities , Female , HIV Infections/epidemiology , HIV Infections/prevention & control , Homosexuality, Male , Humans , Male , Social Stigma , United States/epidemiology , Unsafe Sex
9.
J Am Geriatr Soc ; 69(12): 3641-3649, 2021 12.
Article in English | MEDLINE | ID: mdl-34476815

ABSTRACT

BACKGROUND: Given the high and growing prevalence of Alzheimer's disease and related dementias, and the intensity of this population's care needs, it is imperative that healthcare systems increase their capacity to effectively serve people living with dementia (PLwD). The Dementia Cal MediConnect (Dementia CMC) project proposes an advocacy model that may foster dementia-capable systems change. METHODS: The Dementia CMC project was a 5-year partnership (2013-2018) between local Alzheimer's organizations and 10 managed care health plans (HPs) in California's duals demonstration. It used an advocacy model with the following steps: (1) Identify dementia-capable best practices to set as systems change indicators; (2) Identify and leverage public policies in support of systems change indicators; (3) Identify and engage champions; (4) Develop and advocate for a business case to improve dementia care; (5) Identify gaps in dementia-capable practices; (6) Provide technical assistance, tools, and staff training to address the gaps in dementia-capable practices; and (7) Track systems change. Systems change data were collected through participant observation with HPs and interviews with key informants representing partnering organizations or government entities. RESULTS: Participating HPs reported making systems changes toward more dementia-capable practices such as: better pathways for detection and diagnosis; better identification, assessment, support, and engagement of caregivers; and improved systems of referral to community-based organizations (CBOs), including Alzheimer's CBOs. Some indicators of systems change were inconclusive due to flawed assumptions around HP's care coordination, and the availability of common electronic health records between HPs and providers. CONCLUSION: The application of this advocacy model in California has led to systems changes that can improve care for PLwD and their caregivers and should be replicated to expand the dementia-capability of other health systems. Continued efforts to refine indicators are needed to capture systems change in complex and changing health systems.


Subject(s)
Alzheimer Disease , Capacity Building/organization & administration , Delivery of Health Care/organization & administration , Dementia , Patient Advocacy , California , Humans , Organizational Innovation , Public-Private Sector Partnerships/organization & administration , Systems Analysis
10.
J Elder Abuse Negl ; 33(1): 82-95, 2021.
Article in English | MEDLINE | ID: mdl-33172354

ABSTRACT

This brief report summarizes Adult Protective Services training provided to workers across the nation, using survey results from the National Adult Protective Services Association (NAPSA). Although most states delivered training that covered some learning objectives of NAPSA's 23 core competency training modules, there was a wide variation with some states training workers on all 23 topics, while some states did not provide training on any of the core modules. Having a well-trained APS workforce possessing core competencies to perform the job should be federal and state agencies' goal, because the quality and level of services for older people and people with disabilities should not differ based on the states they live in.


Subject(s)
Elder Abuse , Aged , Government Agencies , Humans
11.
Policy Polit Nurs Pract ; 21(3): 174-186, 2020 Aug.
Article in English | MEDLINE | ID: mdl-32635838

ABSTRACT

In the United States, 1.4 million nursing home residents have been severely impacted by the COVID-19 pandemic with at least 25,923 resident and 449 staff deaths reported from the virus by June 1, 2020. The majority of residents have chronic illnesses and conditions and are vulnerable to infections and many share rooms and have congregate meals. There was evidence of inadequate registered nurse (RN) staffing levels and infection control procedures in many nursing homes prior to the outbreak of the virus. The aim of this study was to examine the relationship of nurse staffing in California nursing homes and compare homes with and without COVID-19 residents. Study data were from both the California and Los Angeles Departments of Public Health and as well as news organizations on nursing homes reporting COVID-19 infections between March and May 4, 2020. Results indicate that nursing homes with total RN staffing levels under the recommended minimum standard (0.75 hours per resident day) had a two times greater probability of having COVID-19 resident infections. Nursing homes with lower Medicare five-star ratings on total nurse and RN staffing levels (adjusted for acuity), higher total health deficiencies, and more beds had a higher probability of having COVID-19 residents. Nursing homes with low RN and total staffing levels appear to leave residents vulnerable to COVID-19 infections. Establishing minimum staffing standards at the federal and state levels could prevent this in the future.


Subject(s)
Betacoronavirus , Coronavirus Infections/nursing , Nursing Homes/organization & administration , Nursing Staff/organization & administration , Personnel Staffing and Scheduling/statistics & numerical data , Pneumonia, Viral/nursing , COVID-19 , California , Humans , Nursing Staff/supply & distribution , Pandemics , SARS-CoV-2 , Skilled Nursing Facilities/organization & administration , United States , Workforce
12.
Prev Chronic Dis ; 17: E41, 2020 06 04.
Article in English | MEDLINE | ID: mdl-32498759

ABSTRACT

The pharmacy sector is a key partner in the National Diabetes Prevention Program (National DPP), as pharmacists frequently care for patients at high risk for type 2 diabetes. The Centers for Disease Control and Prevention aimed to increase pharmacist involvement in the program by leveraging partnerships with national pharmacy stakeholders. Continuous stakeholder engagement helped us to better understand the pharmacy sector and its needs. With stakeholders, we developed a guide and promotional campaign. By following a systematic process and including key stakeholders at every step of development, we successfully engaged these valuable partners in national type 2 diabetes prevention efforts. More pharmacy sites (n = 87) are now offering the National DPP lifestyle change program compared to before release of the guide (n = 27).


Subject(s)
Diabetes Mellitus, Type 2/prevention & control , Pharmacies/organization & administration , Pharmacists , Stakeholder Participation , Centers for Disease Control and Prevention, U.S. , Healthy Lifestyle , Humans , Program Development/methods , United States
13.
AIDS Patient Care STDS ; 33(12): 528-537, 2019 12.
Article in English | MEDLINE | ID: mdl-31750731

ABSTRACT

This overview of reviews summarizes the evidence from systematic reviews (SR) on the effectiveness of antiretroviral therapy (ART) adherence interventions for people with HIV (PWH) and descriptively compares adherence interventions among key populations. Relevant articles published during 1996-2017 were identified by comprehensive searches of CDC's HIV/acquired immunodeficiency syndrome (AIDS) Prevention Research Synthesis Database and manual searches. Included SRs examined primary interventions intended to improve ART adherence, focused on PWH, and assessed medication adherence or biologic outcomes (e.g., viral load). We synthesized the qualitative data and used the Assessment of Multiple Systematic Reviews (AMSTAR) for quality assessment. Forty-one SRs met inclusion criteria. Average quality was high. SRs that evaluated text-messaging interventions (n = 9) consistently reported statistically significant improvements in adherence and biologic outcomes. Other ART adherence strategies [e.g., behavioral, directly administered antiretroviral therapy (DAART)] reported improvements, but did not report significant effects for both outcomes, or intervention effects that did not persist postintervention. In the review focused on people who inject drugs (n = 1), DAART alone or in combination with medication-assisted therapy improved both outcomes. In SRs focused on children or adolescents aged <18 years (n = 5), regimen-related and hospital-based DAART improved biologic outcomes. ART adherence interventions (e.g., text-messaging) improved adherence and biologic outcomes; however, results differed for other intervention strategies, populations, and outcomes. Because few SRs reported evidence for populations at high risk (e.g., men who have sex with men), the results are not generalizable to all PWH. Future implementation studies are needed to examine medication adherence interventions in specific populations and address the identified gaps.


Subject(s)
Anti-Retroviral Agents/therapeutic use , HIV Infections/drug therapy , Medication Adherence , Systematic Reviews as Topic , Text Messaging , Viral Load/drug effects , Adolescent , Child , HIV Infections/psychology , Humans , Male
14.
Inquiry ; 55: 46958018800090, 2018.
Article in English | MEDLINE | ID: mdl-30222018

ABSTRACT

Little is known about the quality of nursing homes in managed care organizations (MCOs) networks. This study (1) described decision-making criteria for selecting nursing home networks and (2) compared selected quality indicators of network and nonnetwork nursing homes. The sample was 17 MCOs participating in a California demonstration that provided integrated long-term services and supports to dually eligible enrollees in 2017. The findings showed that the MCOs established a broad network of nursing homes, with only limited attention to using quality criteria. Network nursing homes (602) scored significantly lower on 6 selected quality measures than nonnetwork (117) nursing homes. Low registered nurse and total nurse staffing were strong predictors of network nursing homes controlling for facility characteristics. Managed care organizations should consider greater transparency about the quality of their nursing homes and use specific quality criteria to improve the quality of their networks.


Subject(s)
Managed Care Programs/statistics & numerical data , Nursing Homes/statistics & numerical data , Quality Indicators, Health Care/statistics & numerical data , California , Decision Making , Humans , Medicaid , Medicare , Nursing Staff/supply & distribution , Personnel Staffing and Scheduling/statistics & numerical data , United States
15.
Mol Cytogenet ; 9: 82, 2016.
Article in English | MEDLINE | ID: mdl-27891178

ABSTRACT

BACKGROUND: High-resolution oligo-SNP array allowed the identification of extremely small pathogenic deletions at numerous clinically relevant regions. In our clinical practice, we found that small pathogenic deletions were frequently encountered at chromosome 9p and 9q terminal regions. RESULTS: A review of 531 cases with reportable copy number changes on chromosome 9 revealed142 pathogenic copy number variants (CNVs): 104 losses, 31 gains, 7 complex chromosomal rearrangements. Of 104 pathogenic losses, 57 were less than 1 Mb in size, enriched at 9p24.3 and 9q34.3 regions, involving the DOCK8, KANK1, EHMT1 genes. The remaining 47 cases were due to interstitial or terminal deletions larger than 1 Mb or unbalanced translocations. The small pathogenic deletions of DOCK8, KANK1 and EHMT1 genes were more prevalent than small pathogenic deletions of NRXN1, DMD, SHANK3 genes and were only second to the 16p11.2 deletion syndrome, 593-kb (OMIM #611913). CONCLUSIONS: This study corroborated comprehensive genotype-phenotype large scale studies at 9p24.3 and 9q24.3 regions for a better understanding of the pathogenicity caused by haploinsufficiency of the DOCK8, KANK1 and EHMT1 genes. TRIAL REGISTRATION NUMBER: None; it is not a clinical trial, and the cases were retrospectively collected and analyzed.

17.
Int J Health Serv ; 45(4): 779-800, 2015.
Article in English | MEDLINE | ID: mdl-26159173

ABSTRACT

The study examined the ownership transparency, financial accountability, and quality indicators of a regional for-profit nursing home chain in California, using a case study methodology to analyze data on the chain's ownership and management structure, financial data, staffing levels, deficiencies and complaints, and litigation. Secondary data were obtained from regulatory and cost reports and litigation cases. Qualitative descriptions of ownership and management were presented and quantitative analyses were conducted by comparing financial and quality indicators with other California for-profit chains, for-profit non-chains, and nonprofit nursing home groups in 2011. The chain's complex, interlocking individual and corporate owners and property companies obscured its ownership structure and financial arrangements. Nursing and support services expenditures were lower than nonprofits and administrative costs were higher than for-profit non-chains. The chain's nurse staffing was lower than expected staffing levels; its deficiencies and citations were higher than in nonprofits; and a number of lawsuits resulted in bankruptcy. Profits were hidden in the chain's management fees, lease agreements, interest payments to owners, and purchases from related-party companies. Greater ownership transparency and financial accountability requirements are needed to ensure regulatory oversight and quality of care.


Subject(s)
Homes for the Aged/organization & administration , Nursing Homes/organization & administration , Ownership/statistics & numerical data , California , Homes for the Aged/economics , Homes for the Aged/standards , Humans , Nursing Homes/economics , Nursing Homes/standards , Organizational Case Studies , Ownership/economics , Personnel Staffing and Scheduling , Quality Indicators, Health Care , United States
18.
Am J Med Genet A ; 167A(4): 821-5, 2015 Apr.
Article in English | MEDLINE | ID: mdl-25736076

ABSTRACT

With only a small number of cases in the medical literature, mosaic trisomy 15 in liveborn infants is very rare. Despite its rarity, similar features among individuals have been described, including intrauterine growth retardation, craniofacial abnormalities and facial dysmorphisms, cardiac disease, and other organ anomalies. Very few liveborns have survived the first year of life. We report here on a term infant with growth restriction and multiple congenital anomalies who was found to have mosaic trisomy 15. The proband presented with some frequently reported findings such as dysmorphic facies and overlapping fingers, and the uncommon finding of whorled hypopigmentation. Previously unreported findings include abnormal cerebral vasculature and dysplastic kidneys. We add this new phenotypic information to widen the spectrum previously reported and provide a review of the literature to date.


Subject(s)
Chromosomes, Human, Pair 15/genetics , Fetal Growth Retardation/diagnostic imaging , Trisomy/diagnosis , Fatal Outcome , Female , Fetal Growth Retardation/genetics , Humans , Mosaicism , Ultrasonography, Prenatal
19.
Genet Med ; 17(3): 234-6, 2015 Mar.
Article in English | MEDLINE | ID: mdl-25101914

ABSTRACT

PURPOSE: Recent published studies have demonstrated the incremental value of the use of cell-free DNA for noninvasive prenatal testing with 100% sensitivity for trisomies 21 and 18 and a specificity of ≥99.7% for both. Data presented by two independent groups suggesting positive results by noninvasive prenatal testing were not confirmed by cytogenetic studies. METHODS: Concordance of results among cases with noninvasive prenatal testing referred for cytogenetic prenatal and/or postnatal studies by karyotyping, fluorescence in situ hybridization, and/or oligo-single-nucleotide polymorphism microarray was evaluated for 109 consecutive specimens. RESULTS: Cytogenetic results were positive for trisomy 21 in 38 of the 41 noninvasive prenatal testing-positive cases (true-positive rate: 93%) and for trisomy 18 in 16 of the 25 noninvasive prenatal testing-positive cases (true-positive rate: 64%). The true-positive rate was only 44% (7/16 cases) for trisomy 13 and 38% (6/16 cases) for sex chromosome aneuploidy. CONCLUSION: These findings raise concerns about the limitations of noninvasive prenatal testing and the need for analysis of a larger number of false-positive cases to provide true positive predictive values for noninvasive testing and to search for potential biological or technical causes. Our data suggest the need for a careful interpretation of noninvasive prenatal testing results and cautious transmission of the same to providers and patients.


Subject(s)
Cytogenetic Analysis/methods , Down Syndrome/diagnosis , Prenatal Diagnosis/methods , Trisomy/diagnosis , Cell-Free System , Chromosomes, Human, Pair 18 , Female , Humans , Pregnancy , Sensitivity and Specificity , Trisomy 18 Syndrome
20.
Eur J Hum Genet ; 23(5): 663-71, 2015 May.
Article in English | MEDLINE | ID: mdl-25118026

ABSTRACT

Copy neutral segments with allelic homozygosity, also known as regions of homozygosity (ROHs), are frequently identified in cases interrogated by oligonucleotide single-nucleotide polymorphism (oligo-SNP) microarrays. Presence of ROHs may be because of parental relatedness, chromosomal recombination or rearrangements and provides important clues regarding ancestral homozygosity, consanguinity or uniparental disomy. In this study of 14 574 consecutive cases, 832 (6%) were found to harbor one or more ROHs over 10 Mb, of which 651 cases (78%) had multiple ROHs, likely because of identity by descent (IBD), and 181 cases (22%) with ROHs involving a single chromosome. Parental relatedness was predicted to be first degree or closer in 5%, second in 9% and third in 19%. Of the 181 cases, 19 had ROHs for a whole chromosome revealing uniparental isodisomy (isoUPD). In all, 25 cases had significant ROHs involving a single chromosome; 5 cases were molecularly confirmed to have a mixed iso- and heteroUPD15 and 1 case each with segmental UPD9pat and segmental UPD22mat; 17 cases were suspected to have a mixed iso- and heteroUPD including 2 cases with small supernumerary marker and 2 cases with mosaic trisomy. For chromosome 15, 12 (92%) of 13 molecularly studied cases had either Prader-Willi or Angelman syndrome. Autosomal recessive disorders were confirmed in seven of nine cases from eight families because of the finding of suspected gene within a ROH. This study demonstrates that ROHs are much more frequent than previously recognized and often reflect parental relatedness, ascertain autosomal recessive diseases or unravel UPD in many cases.


Subject(s)
Homozygote , Oligonucleotide Array Sequence Analysis , Polymorphism, Single Nucleotide , Adolescent , Adult , Child , Child, Preschool , Chromosome Aberrations , Consanguinity , Family , Female , Genes, Recessive , Genetic Association Studies , Genetic Predisposition to Disease , Humans , Incidence , Inflammatory Bowel Diseases/genetics , Male , Oligonucleotide Array Sequence Analysis/methods , Young Adult
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