Biologically infallible? Men's views on male age-related fertility decline and sperm freezing.

Trends in people having children later in life and increasing evidence of male age-related fertility decline (ARFD) has led some to propose sperm freezing as a suitable response. However, little consideration has been given to how men might respond to such a proposal, and there has been a paucity of empirical data to inform such a consideration. This paper arises from in-depth, semi-structured interviews with men (n = 25) who do not have children but want or expect to have them in the future. Data on men's perceptions of male ARFD and sperm freezing are presented and discussed in accordance with theoretical and conceptual tools relating to reproductive masculinity, biomedicalisation, gendered risk perception and meanings of sperm and masculinity. It suggests that that men's overall lack of concern regarding male ARFD and resistance towards ideas of sperm freezing result not only from a lack of exposure to evidence regarding male ARFD but are also shaped by ideals of reproductive masculinity, and may indicate resistance towards the idea of reproductive control. It argues that these positions perpetuate a gender unequal politicisation of ARFD and perpetuate particular gendered subjectivities relating to culpability and responsibility for guarding against risks of ARFD.

Men, chronic illness and healthwork: accounts from male partners of women with endometriosis.

Currently dominant in medical discourse, the concept of self-management sees the responsibility for health and illness shift from the state to the individual. However, while this emphasis on individual responsibility and management has burgeoned, the role and status of partners and other family members in the management of chronic illness remains under-theorised. While self-management privileges individual responsibility for the management of chronic illness, the role of partners remains unclear. This paper utilises data from a study of heterosexual couples' experiences of living with the chronic gynaecological condition endometriosis to explore how male partners engage in its day-to-day management. In all, 22 couples participated in in-depth, semi-structured interviews with each partner interviewed separately (n = 44). Data were analysed thematically and dyadically, informed by an interpretivist relational approach. The paper utilises the concept of healthwork to describe the illness work, everyday life work, biographical work and emotion work men engaged in. The paper demonstrates how the conceptual value of healthwork is enhanced by incorporating an analysis of the emotional effort required in managing chronic illness. The paper illustrates the value of investigating the role of partners in managing chronic illness to provide a fuller account of the distributed and relational nature of healthwork.

Prevalence of Convergence Insufficiency-Type Symptomatology in Parkinson's Disease.

BACKGROUND: Individuals with Parkinson's disease (PD) often present with visual symptoms (e.g., difficulty in reading, double vision) that can also be found in convergence insufficiency (CI). Our objective was to estimate the prevalence of CI-type visual symptomatology in individuals with PD, in comparison with controls. METHODS: Participants ≥50 years with (n=300) and without (n=300) PD were recruited. They were administered the Convergence Insufficiency Symptom Survey (CISS-15) over the phone. A score of ≥21 on the CISS-15, considered positive for CI-type symptomatology, served as the cutoff. Data from individuals (n=87 with, n=94 without PD) who were approached but who reported having a known oculovisual condition were analysed separately. Student's t test and chi-square at the 0.05 level were employed for statistical significance. RESULTS: A total of 29.3% of participants with versus 7.3% without PD presented with a score of ≥21 on the CISS-15 (p=0.001). Of the participants having a known oculovisual condition, 39.1% with versus 19.1% without PD presented with a score of ≥21 on the CISS-15 (p=0.01). CONCLUSIONS: The prevalence of CI-type visual symptoms is higher in individuals with versus without PD whether or not they have a coexisting oculovisual condition. These results suggest that PD per se places individuals with the disease at greater risk of visual symptomatology. These results further underline the importance of providing regular eye exams for individuals with PD.

Visual impairment in older institutionalised Canadian seniors with dementia.

PURPOSE: To estimate the prevalence of visual impairment (VI) in a sub-population of Canadian long-term care facilities, i.e. residents affected by dementia. METHODS: This study was conducted in the long-term care facility units at the Institut universitaire de gériatrie de Montréal. All residents ≥65 years old (y.o.), having a clinical diagnosis of dementia, and able to understand French or English, were eligible for participation in the study. All residents participating in the study received a complete eye exam by an experienced optometrist. For the purpose of the study, VI was defined as a distance visual acuity (VA) <6/12 (0.30 logMAR, 20/40) in the better seeing eye. RESULTS: One hundred and fifty residents, 68-102 y.o. took part into the study. All participants had a diagnosis of dementia recorded in their clinical chart. VI was present in 37.3% (95% CI: 29.1-46.1%) (n = 50) of residents in whom monocular VA could be measured. Ocular refraction for their better seeing eye improved the VA to ≥6/12 (0.30 logMAR, 20/40) in 40% (n = 20) of those 50 residents. When VI remained after refraction, it was due in order of frequency to cataract, age-related macular degeneration, and primary open angle glaucoma. CONCLUSIONS: Our data showed that an appreciable proportion (37.3%) of older residents with dementia also have VI, and that VI can be corrected in many by updating their refraction. Others could potentially be helped through cataract surgery. It is therefore important to offer regular eye care services to those residents, knowing that many are not able to express their visual needs.

Thinking outside the boxes: Using current reading models to assess and treat developmental surface dyslexia.

Improving the reading performance of children with developmental surface dyslexia has proved challenging, with limited generalisation of reading skills typically reported after intervention. The aim of this study was to provide tailored, theoretically motivated intervention to two children with developmental surface dyslexia. Our objectives were to improve their reading performance, and to evaluate the utility of current reading models in therapeutic practice. Detailed reading and cognitive profiles for two male children with developmental surface dyslexia were compared to the results obtained by age-matched control groups. The specific area of single-word reading difficulty for each child was identified within the dual route model (DRM) of reading, following which a theoretically motivated intervention programme was devised. Both children showed significant improvements in single-word reading ability after training, with generalisation effects observed for untrained words. However, the assessment and intervention results also differed for each child, reinforcing the view that the causes and consequences of developmental dyslexia, even within subtypes, are not homogeneous. Overall, the results of the interventions corresponded more closely with the DRM than other current reading models, in that real word reading improved in the absence of enhanced nonword reading for both children.

'We needed to change the mission statement of the marriage': biographical disruptions, appraisals and revisions among couples living with endometriosis.

The concept of biographical disruption has been widely applied in sociological explorations of chronic illness and has been subject to much theoretical scrutiny, reflection and development. However, little attention has been given to the impact of biographical disruption beyond the individual level. This article explores the concept from a dyadic perspective, utilising data from an exploratory, qualitative study (ENDOPART) that investigated the impact of endometriosis on women and their male partners. In total, 22 couples participated in in-depth, semi-structured, face-to-face interviews. The women and their partners were interviewed separately and, in most cases, simultaneously, by different interviewers. Data analysis was informed by an interpretivist relational approach, foregrounding the meanings participants applied to their experiences, treating interviews as accounts, and exploring partners' accounts in relation to one another. Two analytic approaches generated several themes for exploration in the context of the concept of biographical disruption: sex and intimacy; planning for and having children; working lives and social lives. The article argues that biographical disruptions are social and inter-relational processes and discusses how couples living with endometriosis negotiated these disruptions, how they were appraised and how lives and expectations were revised as a result.

A survey of UK fertility clinics' approach to surrogacy arrangements.

This paper draws on the findings of the first survey of surrogacy arrangements in Human Fertilisation and Embryology Authority (HFEA) licensed fertility clinics since 1998. Given the complex social, ethical and legal issues involved, surrogacy continues to raise debate worldwide and fuel calls for increased domestic provision in developed countries. However, little is known about how recent changes have affected HFEA licensed clinics. A 24-item online survey was undertaken between August and October 2013, designed to improve understanding of recent trends and current practices associated with UK-based surrogacy, and consider the implications for future policy and practice in UK and cross-border surrogacy arrangements. The response rate was 51.4%, comprising 54 clinics. Quantitative data were analysed using descriptive statistics, and open-ended qualitative responses analysed for extending understanding. Of the participating clinics, 42.6% offered surrogacy (mostly gestational surrogacy). Heterosexual couples using gestational surrogacy were the largest group currently using services followed by male same-sex couples. Most clinics reported having encountered problems with surrogacy treatments, suggesting barriers still exist to expanding the UK provision of surrogacy arrangements. It is important that professionals are well informed about the legal implications of surrogacy and that clinics have consistent and appropriate operational protocols for surrogacy arrangements.

Training emotional recognition in a child with acquired brain injury: A single case study.

Emotional processing is affected by childhood brain injury. Ineffective emotional processing and poor understanding of social cues affect the development of social relationships leading to social isolation and a poorer quality of life in the long-term. Facial expression recognition is a non-verbal social cue that is used to interpret the thoughts and feelings of others. Children with brain injury have shown deficits identifying even basic emotions from facial expression, yet few intervention studies have explored how to develop facial expression recognition in children with brain injury. Enhancing the ability to recognize and interpret facial expressions for these children would have implications for their emotional processing and social-emotional behavior. In this paper we report on a short single case study intervention to increase facial expression recognition using the Facial Affect Recognition training (FAR) for a 10-year-old-child with brain injury. Following intervention, there was not only an increase in facial expression recognition but also changes in social-emotional behavior indicating some generalization to other contexts. The results suggest that rehabilitation of emotional processing difficulties may indeed be possible, and further intervention studies aimed at developing these skills in children with brain injury are warranted.

The role of Endometriosis Clinical Nurse Specialists in British Society for Gynaecological Endoscopy registered centres: A UK survey of practice.

Aim: To identify Endometriosis Nurse Specialists' roles and responsibilities in accredited Endocentres, how these align with the Royal College of Nursing Skills Framework and potential for development to improve patient care. Design: Cross-sectional national survey. Methods: Data were collected from an online survey distributed to all 66 Endometriosis Nurse Specialists working across 58 UK-based Endometriosis registered centres. The response rate was 58% (N = 38). Data from closed questions were analysed using descriptive statistics, and free text responses were collated and analysed thematically. Results: Unlike Nurse Specialists in other fields of practice, most Endometriosis Nurse Specialists (N = 33, 87%) had another nursing role. The median hours worked per week as an endometriosis nurse was only 13.5 hr. Most respondents (N = 35, 92%) spent all or most of their allocated hours collecting and inputting endometriosis data, whilst over a third (N = 13, 34%) were not undertaking any autonomous, nurse-led patient consultations.

Conducting dyadic, relational research about endometriosis: A reflexive account of methods, ethics and data analysis.

Despite a growing literature on the value of relational data in studies of social phenomena, individuals still commonly constitute the basic unit of analysis in qualitative research. Methodological aspects of interviewing couples, particularly interviewing partners separately, and of conducting dyadic analysis have received scant attention. This article describes the experience of conducting separate interviews with both partners in 22 heterosexual couples (n = 44) in a study of the impact of the gynaecological condition endometriosis. In order to advance current methodological thinking regarding interviewing couples, we describe the dyadic, relational approach employed in designing the study and our specific method of dyadic analysis. We argue that utilising separate interviews with dyadic analysis rather than conducting joint interviews, while not without its ethical, practical and analytical challenges, offers considerable methodological benefits. Such an approach allows a unique relational insight into the impact of chronic illness on couples and how they navigate chronic illness by illuminating both shared and individual interpretations, experiences, understandings and meanings.

Changing vergence function in persons with Parkinson's disease and convergence insufficiency.

Individuals with Parkinson's disease and convergence insufficiency were assigned vergence training. After two months, average positive fusional vergence increased and average near point of convergence decreased. Vergence can be improved with training in persons with Parkinson's disease who also have convergence insufficiency.

Tool for Screening Visual Acuity in Older Individuals With Dementia.

Rationale/Objective: To develop a screening and referral algorithm tool to help identify which older institutionalized individuals with dementia need an eye examination. METHODS: The visual acuity (VA) screening test was developed on an iPad retina display. Three optotypes were used (letters, numbers, and tumbling E's) to determine whether one works best with dementia. The screening VA results and algorithm decision were validated against those obtained by an optometrist performing a complete eye examination. RESULTS: Of the 150 participants, 14.7% did not respond to any optotype, while 85.3% responded to letters, 84.0% to numbers, and 66.0% to tumbling E's. The VA achieved was superior for letters. The concordance for the screening versus eye examination was >80% for VA and 90% for the algorithm. CONCLUSION: The results indicate that the tool was successful at identifying older individuals with dementia needing an eye examination.

Orthoptic Treatment of Convergence Insufficiency in Parkinson's Disease: A Case Series.

Introduction: This study reports a case series of orthoptic treatment (OT) for convergence insufficiency (CI) in individuals with Parkinson's disease (PD). Method: We are reporting two cases of individuals with PD who completed OT for CI. Both had a confirmed diagnosis of CI, accompanied by CI-type symptomatology. They each underwent an OT program consisting of three office-based visits and 8 weeks of home-based exercises. Treatment outcome was based on the changes measured pre- versus post-OT on the near point of convergence, positive fusional vergences, and symptomatology score. Results: The two participants successfully completed therapy, gained ability to converge, had fewer symptoms, and were satisfied with the OT-induced changes they felt in their day-to-day lives. Conclusion: This case series show that OT for CI in PD is possible. Further research is required as these results demonstrate that OT has the potential to improve symptomatic CI in these patients. In the meantime, the positive results obtained in these two cases should encourage clinicians to consider OT (a therapy with no/minimal risk) for CI in patients with PD whose quality of life is affected by this binocular dysfunction.

Prevalence of Convergence Insufficiency in Parkinson's Disease.

BACKGROUND: We recently reported that convergence insufficiency (CI)-type visual symptomatology was more prevalent in participants with Parkinson's disease (PD), compared to controls. The objective of this work was to determine the prevalence of a confirmed clinical diagnosis of CI in PD, compared to controls. METHODS: Participants with (n = 80) and without (n = 80) PD were recruited and received an eye exam. Published criteria were used to arrive at a clinical diagnosis of CI. The Convergence Insufficiency Symptom Survey (CISS-15) questionnaire was administered to each participant, with a score of ≥21 being considered positive for CI symptomatology. Student t test, chi-square, or nonparametric tests at the 0.05 level were used for statistical significance. RESULTS: A total of 43.8% of participants with versus 16.3% without PD had a clinical diagnosis of CI (P ≤ 0.001). A total of 53.8% of participants with versus 18.8% without PD had scores on the CISS-15 of ≥21 (P ≤ 0.001). CONCLUSIONS: These results indicate that individuals with PD have a higher prevalence of CI and CI symptomatology than controls. These data provide evidence supporting the notion that treatment for symptomatic CI should be investigated in individuals with PD.

Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation.

The 22q13 deletion syndrome is associated with global developmental delay, absent or delayed speech, and generalised hypotonia. In this study, the size and nature of 22q13 deletions (n=9) were studied in detail by high-resolution chromosome specific array-based comparative genomic hybridisation (array CGH). The deletion sizes varied considerably between the different patients, that is, the largest deletion spanning 8.4 Mb with the breakpoint mapping to 22q13.2 and the smallest deletion spanning 3.3 Mb with the breakpoint mapping to 22q13.31. In one case, a unique subtelomeric 3.9 Mb deletion associated with a 2.0 Mb duplication of 22q13 was observed, adding to a growing number of similar cases identified for other chromosome ends. Remarkably, this patient had signs suggestive of retinitis pigmentosa, which has never been reported before in the 22q13 deletion syndrome. The identification of two pairs of recurrent proximal breakpoints on 22q13 suggests that these specific regions may be prone to recombination, due to yet unknown genome architectural features. In addition to the copy number changes on 22q13, a duplication of approximately 330 kb on 22q11.1 was observed and shown to be a genetic large-scale copy number variation without clinical consequences. The current study failed to reveal relationships between the clinical features and the deletion sizes. Global developmental delay and absent or severely delayed speech were observed in all patients, whereas hypotonia was present in 89% of the cases (8/9). This study underscores the utility of array CGH for characterising the size and nature of subtelomeric deletions, such as monosomy 22q13, and underlines the considerable variability in deletion size in the 22q13 deletion syndrome regardless of the clinical phenotype.

The social and psychological impact of endometriosis on women's lives: a critical narrative review.

BACKGROUND Endometriosis is a chronic condition affecting between 2 and 17% of women of reproductive age. Common symptoms are chronic pelvic pain, fatigue, congestive dysmenorrhoea, heavy menstrual bleeding and deep dyspareunia. Studies have demonstrated the considerable negative impact of this condition on women's quality of life (QoL), especially in the domains of pain and psychosocial functioning. The impact of endometriosis is likely to be exacerbated by the absence of an obvious cause and the likelihood of chronic, recurring symptoms. The aims of this paper are to review the current body of knowledge on the social and psychological impact of endometriosis on women's lives; to provide insights into women's experience of endometriosis; to provide a critical commentary on the current state of knowledge and to make recommendations for future psycho-social research. METHODS The review draws on a method of critical narrative synthesis to discuss a heterogeneous range of both quantitative and qualitative studies from several disciplines. This included a systematic search, a structured process for selecting and collecting data and a systematic thematic analysis of results. RESULTS A total of 42 papers were included in the review; 23 used quantitative methods, 16 used qualitative methods and 3 were mixed methods studies. The majority of papers came from just four countries: UK (10), Australia (8), Brazil (6) and the USA (5). Key categories of impact identified in the thematic analysis were diagnostic delay and uncertainty; 'QoL' and everyday activities; intimate relationships; planning for and having children; education and work; mental health and emotional wellbeing and medical management and self-management. CONCLUSIONS Endometriosis has a significant social and psychological impact on the lives of women across several domains. Many studies have methodological limitations and there are significant gaps in the literature especially in relation to a consideration of the impact on partners and children. We recommend additional prospective and longitudinal research utilizing mixed methods approaches and endometriosis-specific instruments to explore the impact of endometriosis in more diverse populations and settings. Furthermore, there is an urgent need to develop and evaluate interventions for supporting women and partners living with this chronic and often debilitating condition.

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.

Oculofaciocardiodental (OFCD) and Lenz microphthalmia syndromes form part of a spectrum of X-linked microphthalmia disorders characterized by ocular, dental, cardiac and skeletal anomalies and mental retardation. The two syndromes are allelic, caused by mutations in the BCL-6 corepressor gene (BCOR). To extend the series of phenotypes associated with pathogenic mutations in BCOR, we sequenced the BCOR gene in patients with (1) OFCD syndrome, (2) putative X-linked ('Lenz') microphthalmia syndrome, (3) isolated ocular defects and (4) laterality phenotypes. We present a new cohort of females with OFCD syndrome and null mutations in BCOR, supporting the hypothesis that BCOR is the sole molecular cause of this syndrome. We identify for the first time mosaic BCOR mutations in two females with OFCD syndrome and one apparently asymptomatic female. We present a female diagnosed with isolated ocular defects and identify minor features of OFCD syndrome, suggesting that OFCD syndrome may be mild and underdiagnosed. We have sequenced a cohort of males diagnosed with putative X-linked microphthalmia and found a mutation, p.P85L, in a single case, suggesting that BCOR mutations are not a major cause of X-linked microphthalmia in males. The absence of BCOR mutations in a panel of patients with non-specific laterality defects suggests that mutations in BCOR are not a major cause of isolated heart and laterality defects. Phenotypic analysis of OFCD and Lenz microphthalmia syndromes shows that in addition to the standard diagnostic criteria of congenital cataract, microphthalmia and radiculomegaly, patients should be examined for skeletal defects, particularly radioulnar synostosis, and cardiac/laterality defects.

Prenatal testing for a novel EBP missense mutation causing X-linked dominant chondrodysplasia punctata.

OBJECTIVE: To determine the pathogenicity of a novel conserved missense mutation, p.Ser98Phe, in the emopamil binding protein (EBP) gene in order to perform a prenatal diagnostic test for X-linked dominant chondrodysplasia punctata (CDPX2) in a male foetus at 50% risk. METHODS: Family members were tested for p.Ser98Phe using PCR and sequence analysis of leucocyte or buccal cell DNA. Haplotype analysis was employed to identify the grandparental chromosome on which p.Ser98Phe had arisen. In silico protein analyses were used to predict whether p.Ser98Phe significantly altered the EBP protein structure. RESULTS: The mutation was detected in the proband and her affected mother but not in the maternal grandmother, who was thought to be mildly affected. However, haplotype analysis showed that p.Ser98Phe had arisen de novo on the grandpaternal X chromosome. Protein secondary structure predictions suggested that p.Ser98Phe alters the properties of the helix within which it is located. CONCLUSION: We concluded that p.Ser98Phe is likely to be pathogenic and proceeded with prenatal testing. The male foetus had not inherited p.Ser98Phe and his unaffected status was confirmed at birth. This family demonstrates some of the difficulties in interpreting the significance of novel missense mutations, particularly when results are needed urgently for prenatal diagnosis.

Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11.

LEOPARD syndrome (lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness) is an autosomal dominant condition. The main clinical features include multiple lentigines, cardiovascular defects, and facial anomalies, some of which are shared with Noonan syndrome (NS). Recent reports have shown that LEOPARD syndrome can be caused by mutations in PTPN11, the gene in which mutations can produce NS. Here we report the findings of mutation screening and linkage analysis of PTPN11 in three families with LEOPARD syndrome. We identified a novel mutation in one family. The mutation (1529A>C) substitutes proline for glutamine at amino acid 510 (Gln510Pro). No variations in sequence were observed in the other two families, and negative LOD scores excluded linkage to the PTPN11 locus, showing that LEOPARD syndrome is genetically heterogeneous.