Impact of a Genetic Diagnosis for a Child's Autism on Parental Perceptions.

Genetic testing is recommended as part of an autism assessment, and most parents support genetic testing for their minor children. However, the impact on parents of receiving a monogenetic/ copy number variant diagnosis for autism in their child is not well understood. To explore this, we surveyed and interviewed parents of children in the SPARK study, a study of autism that includes genetic testing. Surveys were administered one month before and one and 12 months after parents received their child's genetic result. Interviews were conducted approximately one month after results disclosure. A genetic diagnosis (GD) for their child appeared to reduce parents' sense of self-blame and feelings of guilt, and this impact was relatively stable. The data also indicate a modest impact on parents' actions related to the condition, perceptions of themselves, and some aspects of life planning for their child, as measured by quantitative instruments at one month and 12 months after receipt of results. Other measures of parental identity and expectations for their child, in contrast, showed little change following receipt of genetic findings. Overall, parents who were told that no GD was identified showed minimal changes in their responses over time. These results suggest a discernable but relatively limited impact of genetic test results on parents of children with autism. These results should be reassuring to clinicians caring for children with autism and are consistent with studies in other areas of medicine that have suggested that genetic results tend to have fewer effects-negative or positive-than were anticipated.

Views of Genetic Testing for Autism Among Autism Self-Advocates: A Qualitative Study.

BACKGROUND: Autism self-advocates' views regarding genetic tests for autism are important, but critical questions about their perspectives arise. METHODS: We interviewed 11 autism self-advocates, recruited through autism self-advocacy websites, for 1 h each. RESULTS: Interviewees viewed genetic testing and its potential pros and cons through the lens of their own indiviudal perceived challenges, needs and struggles, especially concerning stigma and discrimination, lack of accommodations and misunderstandings from society about autism, their particular needs for services, and being blamed by others and by themselves for autistic traits. Their views of genetic testing tended not to be binary, but rather depended on how the genetic test results would be used. Interviewees perceived pros of genetic testing both in general and with regard to themselves (e.g., by providing "scientific proof" of autism as a diagnosis and possibly increasing availability of services). But they also perceived disadvantages and limitations of testing (e.g., possible eugenic applications). Participants distinguished between what they felt would be best for themselves and for the autistic community as a whole. When asked if they would undergo testing for themselves, if offered, interviewees added several considerations (e.g., undergoing testing because they support science in general). Interviewees were divided whether a genetic diagnosis would or should reduce self-blame, and several were wary of testing unless treatment, prevention or societal attitudes changed. Weighing these competing pros and cons could be difficult. CONCLUSIONS: This study, the first to use in-depth qualitative interviews to assess views of autism self-advocates regarding genetic testing, highlights key complexities. Respondents felt that such testing is neither wholly good or bad in itself, but rather may be acceptable depending on how it is used, and should be employed in beneficial, not harmful ways. These findings have important implications for practice, education of multiple stakeholders, research, and policy.

Home Care Clinicians' Perspectives on Advance Care Planning for Patients at Risk for Becoming Incapacitated With No Evident Advance Directives or Surrogates.

Advance care planning is important and timely for patients receiving home health services; however, opportunities to facilitate awareness and engagement in this setting are often missed. This qualitative descriptive study elicited perspectives of home health nurses and social workers regarding barriers and facilitators to creating advance care plans in home health settings, with particular attention to patients with few familial or social contacts who can serve as surrogate decision-makers. We interviewed 15 clinicians employed in a large New York City-based home care agency in 2021-2022. Participants reported a multitude of barriers to supporting patients with advance care planning at the provider level (eg, lack of time and professional education, deferment, discomfort), patient level (lack of knowledge, mistrust, inadequate support, deferment, language barriers), and system level (eg, discontinuity of care, variations in advance care planning documents, legal concerns, lack of institutional protocols and centralized information). Participants noted that greater socialization and connection to existing educational resources regarding the intended purpose, scope, and applicability of advance directives could benefit home care patients.

Receiving de novo genetic diagnoses for autism with intellectual disability: parents' views of impacts on families' reproductive decisions.

Parents of children with autism who receive genetic diagnoses of de novo variants face challenges in understanding the implications for reproductive decision-making. We interviewed 28 parents who received de novo genetic diagnoses for their child's autism and intellectual disability (ID). These genetic variants proved to have reproductive implications for not only the child's parents, but the child and his/her neurotypical siblings, aunts, uncles, and cousins. Parents had often already finished building their families but varied, overall, in whether the results had affected, or might have influenced, their reproductive decisions. Parents' views were shaped by factors related to not only genetics, but also parental age, financial considerations, competing hopes and visions for their family's future, perceived abilities to care for an additional child with similar symptoms, and the extent of the child's symptoms. Members of a couple sometimes disagreed about whether to have more children. Parents pondered, too, the possibility of preimplantation genetic testing, though misunderstandings about it arose. Children with autism vary widely in their abilities to understand the reproductive implications of genetic diagnoses for themselves. Neurotypical offspring were much relieved to understand that their own children would not be affected. While some autism self-advocates have been concerned that genetic testing related to autism could lead to eugenics, the present data, concerning de novo genetic findings, raise other perspectives. These data, the first to explore several key aspects of the reproductive implications of genetic diagnoses for this group, have important implications for future practice, education, and research-e.g., concerning various family members.

Parents' views of benefits and limitations of receiving genetic diagnoses for their offspring.

BACKGROUND: Individuals with autism with intellectual disabilities (ID) are increasingly undergoing genetic testing, posing questions of how parents view/respond to such results. METHODS: Twenty-eight parents whose offspring had received genetic diagnoses of de novo pathogenic variants associated with autism were interviewed. RESULTS: Genetic diagnoses parents receive concerning their offspring's autism/intellectual disabilities can be 'double-edged' in several ways, having advantages, but also certain disadvantages and limitations. Benefits were medical/scientific (e.g., ending diagnostic odysseys and potentially contributing to research), emotional (e.g., relief, peace of mind and less self-blame), cognitive, social (e.g., validation and confirmation with others - it's 'not just in our head') and financial (e.g., estate planning), now and in the future (e.g., preparing for possible future symptoms, development and availability of treatment and setting realistic expectations). Limitations included a lack of medical treatments related to the genetic diagnosis, a sense of finality and heightened uncertainties which can increase anxieties (e.g., concerning additional symptoms associated with genetic diagnoses and offspring's ability to live independently in the future). Overall, parents were glad to receive the results, seeing the pros outweighing the cons. Parents responded to these tensions in various ways, having mixed feelings, recognizing the trade-offs and/or focusing on their offspring's present needs. Factors such as age of offspring at receipt of genetic diagnosis, parent's scientific background and prior views and degrees of self-blame affected these responses. CONCLUSIONS: These data, the first to examine how parents perceive genetic diagnoses received for offspring with autism and ID through whole exome/whole genome sequencing, highlight practical medical and psychological benefits as well as limitations. These findings thus have important implications for future education, engagement of families and research. Providers should be aware of these issues, to inform and assist families, who are considering such testing, about these potential pros and cons and responses.

The Effects of Contextual Factors on Hospital Chaplains: A Qualitative Study.

Critical questions arise about how contextual factors affect hospital chaplains. We interviewed 23 chaplains in-depth. Hospitals' religious or other institutional affiliation, geography, and leadership can influence chaplains both explicitly/directly and implicitly/indirectly-for example, in types/amounts of support chaplains receive, scope of chaplains' roles/activities, amounts/types of chaplains' interactions, chaplains' views of their roles and freedom to innovate, and patients', families' and other providers' perceptions/expectations regarding spiritual care. These data have critical implications for research, practice, and education.

Impact of Receiving Genetic Diagnoses on Parents' Perceptions of Their Children with Autism and Intellectual Disability.

To assess whether genetic test results identifying the cause of a child's autism, when accompanied by other neurodevelopmental disorders (NDD), including intellectual disability, alter how parents perceive and treat their child. 28 parents of 22 individuals with autism (mean age: 15 years), usually with other NDDs, were interviewed after receiving genetic diagnoses indicating a de novo mutation through the Simons Foundation Powering Autism Research for Knowledge study. Diagnosis of a de novo genetic variant can alter parental perceptions of offspring with autism and other NDDs. Parents often blamed their child less, saw their child as less in control of symptoms, and developed more patience, framing expectations accordingly. Parents had mixed feelings about receiving genetic diagnoses, with sadness sometimes accompanying reframed expectations. Genetic diagnoses could change views of the child among extended family members, teachers, social service agencies, insurers, and broader communities and society. Genetic testing might also reduce delays in diagnoses of autism among African American, Latino and other children. These data, the first to examine several critical aspects of how parents and others view children with autism and other NDDs after receiving genetic diagnoses, highlight vital needs for education of multiple stakeholders (including geneticists, other physicians, genetic counselors, parents, individuals with autism, social service agencies, insurers, policymakers, and the broader public), research (to include perspectives of extended family members, insurers, social service agencies and teachers) and practice (to increase recognition and awareness of the potential benefits and effects of genetic testing for such children).

"Why me?": Qualitative research on why patients ask, what they mean, how they answer and what factors and processes are involved.

Patients often ask, "why me?" but questions arise regarding what this statement means, how, when and why patients ask, how they answer and why. Interviews were conducted as part of several qualitative research studies exploring how patients view and cope with various conditions, including HIV, cancer, Huntington's disease and infertility. A secondary qualitative analysis was performed. Many patients ask, "why me?" but this statement emerges as having varying meanings, and entailing complex psychosocial processes. Patients commonly recognize that this question may lack a clear answer and that asking it is irrational, but they ask nonetheless, given the roles of unknown factors and chance in disease causation, psychological stresses of illness and lack of definitive answers. Patients may focus on different aspects of the question - e.g., on possible causes of illness (Why me? - whether God or randomness is involved) and/or on whether they are being singled out and/or punished (Why me vs. someone else?). Patients frequently undergo dynamic processes, confronting this question at various points, and arriving at different answers, looking for explanations that have narrative coherence for them, and make sense to them emotionally. Social contexts can affect these processes, with friends, family, providers or others rejecting or accepting patients' responses to this question (e.g., beliefs about whether the patient is being punished and/or these questions are worth asking). Anger, depression, despair and/or resistance to notions about the roles of randomness or chaos can also shape these processes. While prior studies have each operationalized "why me?" in differing ways, focusing on varying aspects of it, the concept emerges here as highly multidimensional, involving complex processes and often affected by social contexts. These data, the first to examine key aspects and meanings of the phrase, "why me?" have critical implications for future practice, research and education.

Risk Reduction Policies to Reduce HIV in Prisons: Ethical and Legal Considerations and Needs for Integrated Approaches.

The United States has the fastest growing prison population in the world, and elevated incarceration rates, substance use, and human immunodeficiency virus (HIV) prevalence are fueling each other. Yet without a national guideline mandated for HIV care within the prison system, standards for state and federal prisons vary greatly.

"It wasn't Luck: God Wants me Here for a Reason": Perceptions of Luck Among US Patients and Its Relationships to Other Factors Among US Patients.

Patients may feel "lucky" or "unlucky" regarding disease, but questions arise about what they mean. Interviews suggest that US patients often invoke luck in trying to understand why diseases occur and treatments succeed/fail, and do so in the context of religious and spiritual beliefs, struggling with whether luck comes from God; and feeling luck is involved at various points, whether good or bad, regarding the whole or just aspects of an illness, and reflecting personal traits or single events. Social contexts can affect these views. These data have critical implications for researchers, physicians, nurses, chaplains, other providers and patients.

Ethical research when abortion access is legally restricted.

Risks and benefits of some clinical research may be altered.

"Reading" the room: healthcare chaplains' challenges, insights and variations in entering rooms and engaging with patients and families.

Recent research has described broad types of healthcare chaplains' activities, but many questions remain about how these professionals perform these tasks, whether variations occur, and if so, in what ways. Twenty-three chaplains were interviewed in-depth. Chaplains described engaging in highly dynamic processes, involving both verbal and non-verbal interactions. They face challenges and vary in ways of starting interactions, using verbal and non-verbal cues, and communicating through physical appearance. In these processes, when entering patients' rooms, they seek to "read the room," follow patients' leads, look for cues, match the energy/mood in the room, and adjust their body language appropriately, while maintaining open-ended stances. They face choices of what, if anything, to communicate through clothing (e.g., wearing clerical collars or crosses) and can confront additional challenges with members of groups different than their own, at times requiring further sensitivity. These data, the first to examine challenges chaplains confront entering patients' rooms and engaging in non-verbal communication, can enhance understandings of these issues, and help chaplains and other healthcare professionals provide more sensitive and astute context-based care. These findings thus have critical implications for education, practice, and research concerning chaplains and other providers.

Barriers and facilitators faced by hospital chaplains in communicating with lesbian, gay, bisexual, transgender and questioning patients.

OBJECTIVES: Chaplains address religious, spiritual and existential issues with heterosexual patients but critical questions arise of whether chaplains do so with lesbian, gay, bisexual, transgender and questioning (LGBTQ) patients, too, and if so, how. METHODS: Chaplains were interviewed for ∼1 h each. Four spontaneously discussed LGBTQ issues. RESULTS: Chaplains described several challenges communicating with LGBTQ patients. These patients may confront existential, spiritual/religious questions, but be wary of religion, and hence of chaplains, whom they may thus reject. Chaplains can help LGBTQ patients, addressing existential, spiritual and/or religious issues and related parental rejections these patients may then face. Yet LGBTQ patients vary widely: while some eschew chaplains, others are receptive. These providers may also not always know patients' LGBTQ status, and may vary in sensitivity towards these issues, and not always succeed in overcoming families' religion-based homophobia. CONCLUSION: Chaplains can potentially help LGBTQ patients in crucial ways, but face obstacles that need to be carefully recognized, examined and addressed through, practice, research and enhanced education of chaplains, medical staff, patients, family members and others. PRACTICE IMPLICATIONS: Chaplains and other providers should be more aware of, and ready to address the potential existential, spiritual and religious issues that LGBTQ patients may confront.

Challenges in Arranging to Waive Parental Consent in HIV Prevention Studies of Adolescent Men Who have Sex with Men: The Case of HPTN 078.

Including adolescent men who have sex with men (AMSM) in HIV prevention and treatment studies without parental permission is vital, but has often faced barriers. We examine the case of recent Institutional Review Boards (IRB) reviews of an HIV treatment and prevention study that requested waiving parental permission at four United States sites, but received different responses from each institution. IRBs varied in whether and how they weighed parental rights against AMSMs' rights and individual and social benefits, and potential harms (e.g., if a parent disapproves of the adolescents' sexual behavior). One IRB "tabled" the decision to receive advice from the university Office of General Counsel (OGC), despite state laws allowing minors to consent to HIV testing and treatment without parental permission. Another IRB consulted the university's Chief Compliance Officer (CCO), which thought the waiver was inconsistent with state law, which discusses "venereal disease," but not HIV. University attorneys may have competing priorities, however, and thus interpret relevant laws differently. This case raises critical concerns, highlighting needs for advocates for AMSM, researchers, IRBs and others at institutional, governmental, and community levels to educate policymakers, public health departments, IRB chairs, members, and staff, OGCs and CCOs about these issues.

Muslim patients in the U.S. confronting challenges regarding end-of-life and palliative care: the experiences and roles of hospital chaplains.

INTRODUCTION: Hospital chaplains aid patients confronting challenges related to palliative and end-of-life care, but relatively little is known about how chaplains view and respond to such needs among Muslim patients, and how well. METHODS: Telephone qualitative interviews of ~ 1 h each were conducted with 23 chaplains and analyzed. RESULTS: Both Muslim and non-Muslim chaplains raised issues concerning Islam among chaplains, doctors and patients, particularly challenges and misunderstandings between non-Muslim providers and Muslim patients, especially at the end-of-life, often due to a lack of knowledge of Islam, and misunderstanding and differences in perspectives. Due to broader societal Islamophobia, Muslim patients may fear or face discrimination, and thus not disclose their religion in the hospital. Confusion can arise among Muslim patients and families about what their faith permits regarding end-of-life care and pain management, and how to interpret and apply their religious beliefs in hospitals. Muslims hail from different countries, but providers may not fully grasp how these patients' cultural practices may also vary. Chaplains can help address these challenges, playing key roles in mediating tensions and working to counteract Muslim patients' fears, and express support. Yet many Muslim immigrants don't know what "chaplaincy" is and/or prefer a chaplain of their own faith. Muslim chaplains can play vital roles, having expertise that can heighten trust, and educating non-Muslim colleagues, providing in-depth understanding of Islam (e.g., highlighting how Islam is related to Judaism and Christianity) and correcting misconceptions among colleagues. Hospitals without a Muslim chaplain can draw on local community imams. CONCLUSIONS: These data highlight how mutual sets of misunderstandings, especially concerning patients' and families' decisions about end-of-life care and pain management, can emerge among Muslim patients and non-Muslim staff that chaplains can help mediate. Non-Muslim chaplains and providers should seek to learn more about Islam. Muslim patients and families may also benefit from enhanced education and awareness of chaplains' availability and scope, and of pain management and end-of-life options. These data thus have several critical implications for future practice, education, and research.

Clinical Examination in the Diagnosis of Anterior Cruciate Ligament Injury: A Blinded, Cross-sectional Evaluation.

OBJECTIVE: This study was conducted to compare the effectiveness of clinical tests for anterior cruciate ligament (ACL) injury. METHODS: This study prospectively evaluated the effectiveness of the Lachman test, anterior drawer test, and lever test in diagnosing ACL injury in 133 patients with knee pathology. The examiner was blinded to the patient's history, symptoms, and laterality of the pain at the time of examination. One hundred twenty-three patients in the study underwent MRI, and 90 went on to arthroscopy. The performance of the examination maneuvers and MRI was calculated. RESULTS: This study showed notable differences in sensitivity and specificity between the Lachman test and the lever test and in specificity between the anterior drawer test and the lever test. The Lachman test was also found to be more sensitive than the anterior drawer. All ACL tears diagnosed by a composite of the physical examination maneuvers were confirmed by MRI. MRI findings were concordant with arthroscopic findings in all cases. CONCLUSIONS: The Lachman test and the anterior draw test demonstrated clinical utility, but the results of the lever test should be interpreted with caution. Clinical examination was found to be highly specific but less sensitive than MRI.