Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort

Background Primary ciliary dyskinesia (PCD), a genetically heterogeneous condition enriched in some consanguineous populations, results from recessive mutations affecting cilia biogenesis and motility. Currently, diagnosis requires multiple expert tests.Methods The diagnostic utility of multigene panel next-generation sequencing (NGS) was evaluated in 161 unrelated families from multiple population ancestries.Results Most (82%) families had affected individuals with biallelic or hemizygous (75%) or single (7%) pathogenic causal alleles in known PCD genes. Loss-of-function alleles dominate (73% frameshift, stop-gain, splice site), most (58%) being homozygous, even in non-consanguineous families. Although 57% (88) of the total 155 diagnostic disease variants were novel, recurrent mutations and mutated genes were detected. These differed markedly between white European (52% of families carry DNAH5 or DNAH11 mutations), Arab (42% of families carry CCDC39 or CCDC40 mutations) and South Asian (single LRRC6 or CCDC103 mutations carried in 36% of families) patients, revealing a striking genetic stratification according to population of origin in PCD. Genetics facilitated successful diagnosis of 81% of families with normal or inconclusive ultrastructure and 67% missing prior ultrastructure results.Conclusions This study shows the added value of high-throughput targeted NGS in expediting PCD diagnosis. Therefore, there is potential significant patient benefit in wider and/or earlier implementation of genetic screening

Career Development in Schizophrenia: A Heuristic Framework

Adults with schizophrenia continue to have poor rates of competitive employment. We have learned how to support individuals in the workplace with supported employment (SE); but have paid limited attention to early vocational identity development, work antecedents, illness characteristics, and career preferences. Vocational identity development is an important and natural condition of human growth for all persons and is well-researched in career counseling. For young adults with schizophrenia, the predictor of positive work outcome with the most evidence has been that working competitively prior to illness leads to better chances for work post-diagnosis. A heuristic framework is proposed to conceptualize how pre-illness vocational development (paid and unpaid) plus life cycle supports can provide direction to the individual in their work recovery.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/44318/1/10597_2005_Article_5004.pd

Voices of women living with FASD: Perspectives on promising approaches in substance use treatment, programs and care

Research and practice wisdom tells us that women who themselves have FASD are at high risk of having concurrent substance use and mental health problems, and of having a baby with FASD. Despite this, there is a dearth of published information that has focused on the support needs of women with FASD who have substance use problems, or on effective practice in providing substance use treatment and care for women with FASD.This article presents findings based on interviews with 13 substance-using women with FASD, which was a key facet of a three-year research project that had three inter-related components. The research also included a review of the literature regarding promising approaches to substance use treatment and care with women with FASD and interviews with multl-disciplinary service providers across British Columbia to identify promising and innovative programs, resources and approaches relating to substance use treatment for women with FASD. Highlighted are promising approaches and good practice and/or programs for women with FASD who have addictions problems, from the perspective of individuals most directly affected by the issues: women with FASD who have substance use problems.Keywords: Fetal Alcohol Spectrum Disorder, FASD, FASD Prevention, substance use treatment for women, promising practice

Article Commentary: Becoming FASD Informed: Strengthening Practice and Programs Working with Women with FASD

There is growing appreciation among health and social care providers, especially those working in community-based programs with women or young people with substance use problems and/or who have experienced violence, maltreatment, or trauma, that a high number of their program participants may have been prenatally exposed to alcohol or have fetal alcohol spectrum disorder (FASD). This article provides a conceptualization of the key components of an FASD-informed approach. Drawing on the emerging literature and the author's research identifying the support needs and promising approaches in working with women, young adults, and adults with FASD, as well as evaluations of FASD-related programs, the article discusses what an FASD-informed approach is, why it is centrally important in working with women, adults, and young people who may have FASD, underlying principles of an FASD-informed approach, and examples of FASD-informed adaptations to practice, programming, and the physical environment. In this discussion, the benefits of using an FASD-informed approach for service providers and women living with FASD and their families, as well as conceptualization of FASD-informed policy and systems are highlighted

National Evaluation of Canadian Multi-Service FASD Prevention Programs: Interim Findings from the Co-Creating Evidence Study

Since the 1990s, a number of multi-service prevention programs working with women who have substance use, mental health, or trauma and/or related social determinants of health issues have emerged in Canada. These programs use harm reduction approaches and provide outreach and “one-stop” health and social services on-site or through a network of services. While some of these programs have been evaluated, others have not, or their evaluations have not been published. This article presents interim qualitative findings of the Co-Creating Evidence project, a multi-year (2017−2020) national evaluation of holistic programs serving women at high risk of having an infant with prenatal alcohol exposure. The evaluation utilizes a mixed-methods design involving semi-structured interviews, questionnaires, focus groups, and client intake/outcome “snapshot” data. Findings demonstrated that the programs are reaching vulnerable pregnant/parenting women who face a host of complex circumstances including substance use, violence, child welfare involvement, and inadequate housing; moreover, it is typically the intersection of these issues that prompts women to engage with programs. Aligning with these results, key themes in what clients liked best about their program were: staff and their non-judgmental approach; peer support and sense of community; and having multiple services in one location, including help with mandated child protection

Parenting with Fetal Alcohol Spectrum Disorder. Community Mental Health Journal

Abstract This paper focuses on issues associated with parenting and living with FASD. It is based on a larger research and video production project that examined the challenges, accomplishments and support needs of adults with FASD in relation to parenting, employment and the legal system. Using theoretical sampling techniques, in-depth, faceto-face interviews were conducted with a total of 59 people from 5 diverse communities in British Columbia; of these, 15 were adults with (suspected) FASD. Findings presented in this article relate to parents' hopes, goals and accomplishments, parenting challenges, experiences with the child welfare system, and perceived barriers to support, including policy-related barriers. Findings also revealed prevailing ignorance about the nature of FASD and the day-to-day support needs of those living with FASD, which potentially have profound implications from both a health and a social justice perspective. For example, parents experienced reluctance to seek assistance for their secondary disabilities related to FASD (e.g., substance use or mental health problems), for fear of that their needs for support would be viewed as evidence of their parenting incapability. Highlighted will be directions for positive policy and practice-related change in working with parents with FASD

Parenting with Fetal Alcohol Spectrum Disorder. Community Mental Health Journal

Abstract This paper focuses on issues associated with parenting and living with FASD. It is based on a larger research and video production project that examined the challenges, accomplishments and support needs of adults with FASD in relation to parenting, employment and the legal system. Using theoretical sampling techniques, in-depth, faceto-face interviews were conducted with a total of 59 people from 5 diverse communities in British Columbia; of these, 15 were adults with (suspected) FASD. Findings presented in this article relate to parents' hopes, goals and accomplishments, parenting challenges, experiences with the child welfare system, and perceived barriers to support, including policy-related barriers. Findings also revealed prevailing ignorance about the nature of FASD and the day-to-day support needs of those living with FASD, which potentially have profound implications from both a health and a social justice perspective. For example, parents experienced reluctance to seek assistance for their secondary disabilities related to FASD (e.g., substance use or mental health problems), for fear of that their needs for support would be viewed as evidence of their parenting incapability. Highlighted will be directions for positive policy and practice-related change in working with parents with FASD

Sex Workers Addressing Treatment

Substance misuse among women sex workers is a complex issue, given the heterogeneity of both substance misusers and sex workers and the stigma they both bear. Media depictions of drug-addicted prostitutes fuel the notion that sex work and substance misuse are inextricably and problematically linked in the urban environment. Hallgrimsdottir et. al., (2008, p. 129) surveyed the Victoria Times Colonist from 1980 to 2004 and see sex workers being positioned as “vectors of contagion (medical, criminal, and moral).” McNaughton and Sanders (2007) note the predominance of discourses supporting the elimination of street sex work to ensure ‘clean streets’ and ‘safe communities.’ Kantola and Squires (2004) describe the role of public nuisance discourse in the UK in constructing substance-misusing sex workers as health and social problems that must be removed or moved. This discursive environment constrains sex workers’ access to health services and safe working environments (Bellis et. al., 2007; Jeal & Salisbury, 2004). Accessing and successfully completing substance misuse treatment presents a particular challenge for sex workers, given the stigmas attached to substance misuse and sex work, the interrelationship between substance use and sex work, and the sometimes addictive quality of sex work itself (Casey & Paterson, 2008). This paper explores these barriers and challenges by reviewing the literature and reporting on recent research conducted with Canadian sex workers. It describes the development and evaluation of an innovative sex-worker-specific treatment model that shows promise for reducing the harms incurred through substance misuse and sex work. The research was conducted by the Canadian National Coalition of Experiential Women (CNCEW), which also developed the treatment program and contracted with an independent researcher (Rutman) for the program evaluation. All activities were funded by Status of Women Canada. CNCEW is a consortium of women activists committed to the advancement of equality and human rights for sex workers. All members have direct experience in sex work and/or as sexually exploited youth