Identity development, attraction, and behaviour of heterosexually identified men who have sex with men: scoping review protocol.

BACKGROUND: Heterosexually identified men who have sex with men (H-MSM) are distinct from other heterosexual men and from gay, bisexual, and other sexual minority men. Specifically, H-MSM experience discordance between their sexual identity (i.e., heterosexual) and behaviours (i.e., sexual encounters with other men). This sexual identity-behaviour discordance can create barriers to obtaining healthcare and social support. Understanding and accepting H-MSM as they self-identify may be necessary to implement effective public health and psychosocial interventions. The aim of the present study is to provide an overview of research on H-MSM. METHODS: A scoping review will be conducted to identify and describe the identity development, attraction, and behaviour of H-MSM. This scoping review will also identify and describe current trends related to the recruitment of H-MSM and recommend directions for future research. Searches will be conducted in Academic Search Complete, APA PsychInfo, CINAHL Plus with full text, Education Research Complete, Gender Studies Database, GenderWatch, Health Source: Nursing/Academic Edition, LGBTQ + Source, MEDLINE, Psychology and Behavioral Sciences Collection, SocINDEX with full text, Sociological Collection, Social Work Abstracts, ProQuest Dissertations and Theses, and ResearchGate. Primary research studies published in peer-reviewed journals will be included. Dissertations and theses that include primary research on H-MSM will also be included. Reference lists, experts in the field, preprint servers, and relevant conferences will also be consulted for extant and in-progress literature. Two reviewers will independently pilot the data extraction form and conduct the title and abstract screening, with consultation from a research librarian. Seven reviewers will then conduct the full-text article screening. Thematic content analysis will guide the review; through independent review and reviewer meetings, themes and subthemes will be identified and reported from the extracted literature. DISCUSSION: This is the first known knowledge synthesis on H-MSM, seeking to better understand sexual identity-behaviour discordance amongst cisgender men. We anticipate that a theoretical framework of H-MSM's sexuality, internal processes, and behaviours will be constructed from this review. Alongside implications for further research with H-MSM, this review may be relevant to sexually transmitted infection public health and to clinicians working in the field of male sexuality. SYSTEMATIC REVIEW REGISTRATION: Open Science Framework: https://doi.org/10.17605/OSF.IO/MVY9H.

Differential Response and the Reduction of Child Maltreatment and Foster Care Services Utilization in the U.S. From 2004 to 2017.

By 2014, the majority of U.S. states had implemented differential response (DR), a system policy that seeks to serve families of low-to moderate-risk for child maltreatment through family engagement, diversion from formal child protective services investigations, and service provision. However, the effects of DR programs on child welfare dynamics have yet to be evaluated nationally using causal methods. Using a quasi-experimental study design with data drawn from the National Child Abuse and Neglect Data System from 2004 to 2017, we found states with DR programs had approximately 19% fewer substantiated reports, 25% fewer children substantiated for neglect, and a 17% reduction in foster care services utilization when compared to states without DR programs. We find these estimates to be robust to the opioid epidemic and incarceration rates. Additional research is needed to better characterize DR programs and isolate the effects of DR programs geographically.

Association Between State Supplemental Nutrition Assistance Program Policies, Child Protective Services Involvement, and Foster Care in the US, 2004-2016.

Importance: Public assistance policies may play a role in preventing child maltreatment by improving household resources among families of low incomes. The Supplemental Nutrition Assistance Program (SNAP) is one of the largest public assistance programs in the US. However, the association of state SNAP policy options to Child Protective Services (CPS) outcomes has not been rigorously examined. Objective: To model the association of state SNAP policies with changes in CPS and foster care outcomes in the US over time. Design, Setting, and Participants: This cohort study used panel data to examine the association between SNAP policy options and study outcomes from 2004 to 2016 for 50 US states and the District of Columbia in 2-way fixed-effects regression models. The count of SNAP policies was used as an instrument for SNAP caseloads in instrumental variables models. Data analysis was conducted in November 2021. Exposures: The adoption of 1 or more state SNAP income generosity policies that improves or stabilizes household resources for SNAP participants. Main Outcomes and Measures: Reports of child maltreatment accepted for CPS investigation, children in substantiated reports, and children receiving foster care services for all forms of maltreatment, and specifically for child neglect per 100 000 child population. Results: The mean (SD) number of SNAP income generosity policies increased from 1.47 (0.95) in 2004 to 2.37 (0.94) in 2010, to 2.49 (0.86) in 2016 across states; the median increased from 1 to 3 (range, 0-4) over the same period. A count of state income generosity policies was associated with large reductions in reports accepted for CPS investigation (-352.6 per 100 000 children; 95% CI, -557.1 to -148.2). Income generosity policy was associated with -94.8 (95% CI, -155.6 to -34.0) fewer substantiated reports and -77.0 (95% CI, -125.4 to -28.6) fewer reports substantiated for neglect per 100 000. Each additional income generosity policy adopted by a state was associated with -45.1 (95% CI, -71.6 to -18.5) to -42.3 (95% CI, -64.8 to -19.8) fewer total foster care placements per 100 000 children. Conclusions and Relevance: State SNAP policies that improve and stabilize household resources appear to be associated with reductions in CPS involvement and use of foster care. The number of policies implemented had cumulative outcomes beyond individual policy outcomes.

Suicidal ideations and Attempts Within the Family Context: The Role of Parent Support, Bonding, and Peer Experiences with Suicidal Behaviors.

The rate of suicidality is increasing faster in Black American youth than in any other group in the USA. Researchers have found that family-level factors are important environmental factors for predicting depression and anxiety among Black youth, but less is known about how family- and friendship-level factors are associated with suicidal ideation and attempts among Black youth. This secondary analysis used the data from the National Longitudinal Study of Adolescents to Adult Health with a sample of Black adolescents (N = 4232) with a mean age of 16 years. The predictors included parental and other contextual factors on the outcome, which was suicidal behaviors. A multinomial analysis was employed to assess which factors contributed to or prevented suicidal behaviors. Our results indicated that parental support was significantly and positively associated with reporting suicidal ideation and attempts. The results indicated that Black youth with a decrease in parental support were 41% more likely to report ideation and 68% more likely to report attempting suicide compared to those reporting no parental support. Findings from our study support the assertion that the influence from the familial microsystem is pronounced in modifying suicidal behavior of Black youth.

An Assessment of the Role of Parental Incarceration and Substance Misuse in Suicidal Planning of African American Youth and Young Adults.

Suicide rates among youth are increasing, and African American youth are becoming the most likely group to die by suicide in the USA. We utilized ecodevelopmental theory to investigate the relationship between parental incarceration and substance misuse and their association with suicidal planning in a sample of African American youth and young adults. Participants consisted of 190 African American youth and young adults living in public housing in a mid-Atlantic city in the USA who completed a youth health-risk behavior measure, and parental incarceration and substance misuse measures. Findings indicate males were significantly more likely than females to have devised a plan to die by suicide, especially if their mothers were incarcerated or their fathers had an alcohol problem. The findings of this study suggest several implications for health prevention and intervention efforts to reduce suicide-related risks among African American youth and young adults, including strategies that promote family-centered, evidence-based interventions that are culturally tailored to provide further insight into the best practices in suicide prevention.

Identifying compassion satisfaction, burnout, & traumatic stress in Children's Advocacy Centers.

BACKGROUND: Little research exists examining burnout related to the multidisciplinary team (MDT) working in a Children's Advocacy Center (CAC) setting. OBJECTIVES: To measure compassion satisfaction, burnout, and secondary traumatic stress (STS) among CAC MDT professionals; identify work and worker characteristics that may impact compassion satisfaction, burnout, and STS; understand professional and personal impacts of occupational stress; and explore coping responses. PARTICIPANTS AND SETTING: A cross sectional survey was sent electronically to child abuse professionals working in CAC settings across the United States. METHODS: Demographics and work characteristics were collected. Participants completed the Professional Quality of Life (ProQOL) to evaluate compassion satisfaction, burnout, and STS and answered open-ended questions regarding professional and personal impacts of occupational stress. Upon completion, participants received their ProQOL scores and additional stress management resources. RESULTS: A total of 885 participants completed the ProQOL (mean age = 42.07; 85% female). Overall mean scores were average for compassion satisfaction, high average for burnout, and in the top quartile for STS. All three scales differed significantly by MDT professional role (ps < 0.001 to 0.01) and employment length (ps < 0.001 to 0.003). Child welfare workers had significantly higher burnout scores than all other professions except law enforcement and prosecutors and significantly lower compassion satisfaction scores than most others. Professionals providing on-call services had significantly higher burnout (p <  0.001). CONCLUSIONS: These results contribute to our understanding of MDT professions who might be at higher risk for burnout and STS and help inform future interventions to support the MDT.

Managing juvenile Huntington's disease.

Huntington's disease (HD) is a well-recognized progressive neurodegenerative disorder that follows an autosomal dominant pattern of inheritance. Onset is insidious and can occur at almost any age, but most commonly the diagnosis is made between the ages of 35 and 55 years. Onset ≤20 years of age is classified as juvenile HD (JHD). This age-based definition is arbitrary but remains convenient. There is overlap between the clinical pathological and genetic features seen in JHD and more traditional adult-onset HD. Nonetheless, the frequent predominance of bradykinesia and dystonia early in the course of the illness, more frequent occurrence of epilepsy and myoclonus, more widespread pathology, and larger genetic lesion means that the distinction is still relevant. In addition, the relative rarity of JHD means that the clinician managing the patient is often doing so for the first time. Management is, at best, symptomatic and supportive with few or no evidence-based guidelines. In this article, the authors will review what is known of the condition and present some suggestions based on their experience.

The impact of Juvenile Huntington's Disease on the family: the case of a rare childhood condition.

There has been little research into the impact of Juvenile Huntington's Disease (JHD) on the family, and the issues facing this group are poorly understood. The study reported here is part of larger project that aimed to address this. Ten semi-structured interviews with the main carer were carried out, and were analysed using Interpretative Phenomenological Analysis (IPA). This article reports three themes arising from the study relating to the psychosocial impact of JHD on the family: (1) dealing with something so different; (2) lack of understanding (3) isolation. This information is useful in developing appropriate services for families affected by JHD, as well as being of relevance to other childhood conditions.

Prader-Willi and Klinefelter syndrome: a coincidence or not?

Prader-Willi syndrome is a complex multisystem disorder characterized by neonatal hypotonia, developmental delay, short stature, obesity, behaviour problems, hypothalamic hypogonadism and characteristic appearance. A number of sex chromosome abnormalities have been reported in children with Prader-Willi syndrome. We report on an infant with a 47, XXY karyotype and Prader-Willi syndrome diagnosed at 2 months of age. He is possibly the youngest to be reported with both Prader-Willi syndrome and Klinefelter syndrome. We have shown that the extra X chromosome causing Klinefelter syndrome is paternal in origin and Prader-Willi syndrome is due to maternal heterodisomy indicating that these two events occurred coincidentally.

Reduced penetrance alleles for Huntington's disease: a multi-centre direct observational study.

OBJECTIVE: To obtain penetrance data for Huntington's disease when DNA results are in the range of 36-39 CAG repeats and assess the consistency of reporting the upper allele from two reference centres. METHOD: Data were collected anonymously on age of onset or age last known to be unaffected from a cohort of individuals with results in this range. DNA samples were re-analysed in two reference centres. Kaplan-Meier analysis was used to construct an age of onset curve and penetrance figures. RESULTS: Clinical data and concordant DNA results from both reference centres were available for 176 samples; penetrance figures (and 95% confidence intervals) for this cohort, at age 65 and 75 years, were 63.9% (55.5% to 73.2%) and 74.2% (64.2% to 84.2%), respectively. Inclusion of 28 additional subjects for whom repeat DNA results were unavailable, obtained from only one reference centre, or discrepant by one repeat within this range, gave penetrance data (including 95% confidence intervals) at ages 65 and 75 years of 62.4% (54.4% to 70.4%) and 72.7.% (63.3% to 82.1%), respectively. 238 duplicate results were available from the reference centres; 10 (4.2%) differed by one CAG repeat in the reporting of the upper allele and in two (0.84%) of these cases the discrepancy was between 39 and 40 repeats. CONCLUSION: When DNA results are in this range, a conservative approach is to say that there is at least a 40% chance the person will be asymptomatic at age 65 years and at least a 30% chance the person will be asymptomatic at age 75 years.

Caring for a child with Juvenile Huntington's Disease: helpful and unhelpful support.

There has been little research into the psychosocial impact of Juvenile Huntington's Disease on the child and family. This study investigates the social and health care needs of those affected by Juvenile Huntington's Disease. Ten semi-structured interviews with carers were analysed using the qualitative methodology interpretative phenomenological analysis. This article reports three themes on the social support that families received. The first theme describes how parents perceived the support that they received from family and friends. The second and third themes describe how parents perceived helpful and unhelpful experiences of professional support. This corresponds to the view that social support is a 'double-edged sword', which can both ameliorate the effects of, and be a source of, stress. This information should be useful to those supporting the family of a child with a chronic or terminal illness.

Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia.

Craniofrontonasal syndrome (CFNS, MIM 304110) is an X-linked craniofacial disorder that shows paradoxically greater severity in heterozygous females than in hemizygous males. Mutations have been identified in the EFNB1 gene that encodes a member of the ephrin-B family of transmembrane ligands for Eph receptor tyrosine kinases. Here, we describe two unrelated families, in both of which a mother and her son have proven mutations in EFNB1. The mothers have classical features of CFNS; although the sons have no major craniofacial features other than telecanthus, both had a congenital diaphragmatic hernia (CDH). Our cases represent the first in which CDH has been confirmed in males with mutations in EFNB1, highlighting an important role for signalling by ephrin-B1 in the development of the diaphragm.

The OEIS complex: two case reports that illustrate the spectrum of abnormalities and a review of the literature.

We present two cases of OEIS (omphalocele, exstrophy, imperforate anus, spinal defects) complex -MIM 258040 and a review of the literature. Case 1 was a 14-year-old girl who presented at 30 weeks' gestation. An ultrasound examination showed an omphalocele and spina bifida; the bladder was not visualised. She went into spontaneous labour two weeks later and the baby died shortly after birth. A full post-mortem examination was refused, but the mother did agree to an external examination, skin biopsy for fibroblast culture, X rays and MR imaging. The MR imaging showed a pelvic kidney, a large omphalocele containing the other kidney, liver, bowel and a fluid filled structure thought to represent an exstrophy of the bladder (EB). Case 2 was a 30-year-old woman who had an ultrasound examination at 20 weeks' gestation; this showed an omphalocele, but the bladder was not visualised. The pregnancy was subsequently terminated and a post-mortem examination showed a low set umbilical cord associated with a small omphalocele; there was an imperforate anus; a blind ending rectum terminated in the omphalocele. We conclude that these two cases illustrate the variability of the OEIS complex.

Microcephaly-lymphoedema-chorioretinal dysplasia: three cases to delineate the facial phenotype and review of the literature.

Microcephaly-lymphoedema-chorioretinal dysplasia (MIM 152950) has been described as a distinct clinical entity. The mode of inheritance is uncertain, but male to male transmission has been observed supporting autosomal dominant inheritance. A characteristic facial phenotype has recently been suggested. We report three isolated male patients with this condition who have all of the major features and share a distinct facial appearance with upslanting palpebral fissures, a broad nose with rounded tip, anteverted nares, long philtrum with thin upper lip, pointed chin and prominent ears. The clinical features in our patients support the hypothesis of a characteristic facial phenotype in this syndrome.

Genetic professionals' reports of nondisclosure of genetic risk information within families.

Patients attending genetic clinics are often the main gatekeepers of information for other family members. There has been much debate about the circumstances under which professionals may have an obligation, or may be permitted, to pass on personal genetic information about their clients but without their consent to other family members. We report findings from the first prospective study investigating the frequency with which genetics professionals become concerned about the failure of clients to pass on such information to their relatives. In all, 12 UK and two Australian regional genetic services reported such cases over 12 months, including details of actions taken by professionals in response to the clients' failure to disclose information. A total of 65 cases of non-disclosure were reported, representing <1% of the genetic clinic consultations in the collaborating centres during the study period. These included 39 cases of the failure of parents not passing full information to their adult offspring, 22 cases where siblings or other relatives were not given information and four cases where information was withheld from partners -- including former and prospective partners. Professionals reported clients' reasons for withholding information as complex, more often citing concern and the desire to shield relatives from distress rather than poor family relationships. In most cases, the professionals took further steps to persuade their clients to make a disclosure but in no instance did the professional force a disclosure without the client's consent.

Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome.

Fluorescent in situ hybridization (FISH) screening of subtelomeric rearrangements has resulted in the identification of previously unrecognized chromosomal causes of mental retardation with and without dysmorphic features. This article reports the phenotypic and molecular breakpoint characterization in a cohort of 12 patients with subtelomeric deletions of chromosome 9q34. The phenotypic findings are consistent amongst these individuals and consist of mental retardation, distinct facial features and congenital heart defects (primarily conotruncal defects). Detailed breakpoint mapping by FISH, microsatellite and single nucleotide polymorphism (SNP) genotyping analysis has narrowed the commonly deleted region to an approximately 1.2 Mb interval containing 14 known transcripts. The majority of the proximal deletion breakpoints fall within a 400 kb interval between SNP markers C12020842 proximally and C80658 distally suggesting a common breakpoint in this interval.

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

Remodeling of the cytoskeleton is central to the modulation of cell shape and migration. Filamin A, encoded by the gene FLNA, is a widely expressed protein that regulates re-organization of the actin cytoskeleton by interacting with integrins, transmembrane receptor complexes and second messengers. We identified localized mutations in FLNA that conserve the reading frame and lead to a broad range of congenital malformations, affecting craniofacial structures, skeleton, brain, viscera and urogenital tract, in four X-linked human disorders: otopalatodigital syndrome types 1 (OPD1; OMIM 311300) and 2 (OPD2; OMIM 304120), frontometaphyseal dysplasia (FMD; OMIM 305620) and Melnick-Needles syndrome (MNS; OMIM 309350). Several mutations are recurrent, and all are clustered into four regions of the gene: the actin-binding domain and rod domain repeats 3, 10 and 14/15. Our findings contrast with previous observations that loss of function of FLNA is embryonic lethal in males but manifests in females as a localized neuronal migration disorder, called periventricular nodular heterotopia (PVNH; refs. 3-6). The patterns of mutation, X-chromosome inactivation and phenotypic manifestations in the newly described mutations indicate that they have gain-of-function effects, implicating filamin A in signaling pathways that mediate organogenesis in multiple systems during embryonic development.

Further delineation of the G syndrome: a manageable genetic cause of infantile dysphagia.

Three families including five subjects with the G or Opitz-Frias syndrome are added to 23 published cases who had dysphagia; characteristics of the two affected relatives were added to 19 well documented published reports. The data from index cases support the concept of the G syndrome as a constellation of midline defects, which include hypertelorism or telecanthus (89%), oesophageal dysmotility (69%), laryngotracheal clefts (44%), cleft palate or bifid uvula (34%), heart defects (29%), hypospadias (100% of males), renal or ureteral anomalies (42%), and mental retardation (38%). Affected relatives, often identified by hypertelorism, dysphagia, or hypospadias, had a much lower incidence of associated defects and mental retardation. They provide a more rounded but still biased view of a syndrome compatible with normal intelligence and life span. The data do not support a highly characteristic face in the G syndrome, which discriminates it from the phenotypically similar BBB syndrome. The variable expressivity and five cases of male to male transmission observed in 18 families are consistent with autosomal dominant inheritance. Vigilance for the morphological characteristics of G syndrome in patients with dysphagia is underscored by the potential for normal development with appropriate intervention.

Group A beta-hemolytic streptococcal vulvovaginitis: a recurring problem.

Differential diagnosis of purulent vulvovaginitis in prepubertal girls should include infection caused by group A beta-hemolytic streptococci. Cultures should be obtained not only for N. gonorrhoeae but also for respiratory and skin pathogens such as streptococci. While a specific diagnosis of group A streptococcal vulvovaginitis does not exclude child abuse or a vaginal foreign body, the child's symptoms and parental anxiety and concern can usually be rapidly alleviated with oral antibiotics effective against streptococci. Further investigation beyond culturing and treatment with antibiotics can be reserved for cases where history, physical findings, and response to therapy indicate such a need.