Co-designing Improved Communication of Newborn Bloodspot Screening Results to Parents: Mixed Methods Study.

BACKGROUND: Each year in England, almost 10,000 parents are informed of their child's positive newborn bloodspot screening (NBS) results. This occurs approximately 2 to 8 weeks after birth depending on the condition. Communication of positive NBS results is a subtle and skillful task, demanding thought, preparation, and evidence to minimize potentially harmful negative sequelae. Evidence of variability in the content and the way the result is currently communicated has the potential to lead to increased parental anxiety and distress. OBJECTIVE: This study focused on the development of co-designed interventions to improve the experiences of parents receiving positive NBS results for their children and enhance communication between health care professionals and parents. METHODS: An experience-based co-design approach was used to explore experiences and co-design solutions with 17 health professionals employed in 3 National Health Service Trusts in England and 21 parents (13/21, 62% mothers and 8/21, 38% fathers) of 14 children recruited from the same 3 National Health Service Trusts. Experiences with existing services were gathered via semistructured interviews with health professionals. Filmed narrative interviews with parents were developed into a composite film. The co-design process identified priorities for improving communication of positive NBS results through separate parent and health professional feedback events followed by joint feedback events. In total, 4 interventions were then co-designed between the participants through a web-based platform. RESULTS: Parents and health professionals provided positive feedback regarding the process of gathering experiences and identifying priorities. Themes identified from the parent interviews included impact of initial communication, parental reactions, attending the first clinic appointment, impact of health professionals' communication strategies and skills, impact of diagnosis on family and friends, improvements to the communication of positive NBS results, and parents' views on NBS. Themes identified from the health professional interviews included communication between health professionals, process of communicating with the family, parent- and family-centered care, and availability of resources and challenges to effective communication. In response to these themes, 4 interventions were co-designed: changes to the NBS card; standardized laboratory proformas; standardized communication checklists; and an email or letter for providing reliable, up-to-date, condition-specific information for parents following the communication of positive NBS results. CONCLUSIONS: Parents and health professionals were able to successfully work together to identify priorities and develop co-designed interventions to improve communication of positive NBS results to parents. The resulting co-designed interventions address communication at different stages of the communication pathway to improve the experiences of parents receiving positive NBS results for their children. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): RR2-10.1186/s40814-019-0487-5.

Impact of long-term elosulfase alfa treatment on clinical and patient-reported outcomes in patients with mucopolysaccharidosis type IVA: results from a Managed Access Agreement in England.

BACKGROUND: We present baseline characteristics and follow-up data of a Managed Access Agreement (MAA), including patients with mucopolysaccharidosis IVA (MPS IVA) receiving elosulfase alfa enzyme replacement therapy (ERT) in England on a conditional basis. Patients enrolled in the MAA programme are reviewed on an annual basis. Therapy can be continued if patients are compliant, able to tolerate infusions, and meet four out of five pre-defined clinical and patient-reported outcomes (PRO) criteria. Baseline and follow-up clinical and PRO data are presented for all participants who completed ≥ 1 year of assessments in the MAA. RESULTS: The analysis included data from 55 patients, including 26 patients previously enrolled in clinical trials and 29 who started ERT after enrolling in the MAA. In patients with both baseline and follow-up data, mean 6-min walk test distance increased from 217 m at baseline to 244 m after a mean follow-up of 4.9 years. Improvement or stabilisation was seen regardless of age at treatment initiation or duration of treatment. Mean forced vital capacity and forced expiratory volume in 1 s were 0.87 L and 0.78 L, respectively at baseline and 1.05 L and 0.88 L after a mean follow-up of 5.5 years. PRO data showed overall improvements over time in Mobility, Self-care, and Caregiver assistance scores of the MPS-Health Assessment Questionnaire, relatively stable quality of life, and some improvements in pain scores. CONCLUSIONS: The MAA data confirm the effects of elosulfase alfa on clinical and PRO results observed in the clinical trials and provide real-world evidence for long-term stabilisation in these measures, suggesting a positive impact on the natural history of MPS IVA.

The management of children with Hunter syndrome - a case study.

Hunter syndrome (mucopolysaccharidosis type II) is a rare lysosomal storage disease caused by a deficiency of the lysosomal enzyme iduronate-2-sulphatase and the subsequent progressive cellular accumulation of glycosaminoglycans. Children with this debilitating disease can now be offered enzyme replacement therapy (ERT) with idursulfase to manage the signs and symptoms of the disease and to improve quality of life. As therapy involves a weekly infusion of enzyme, travel to the few designated specialist centres that provide treatment can be highly disruptive for both patients and carers. Providing ERT outside the hospital setting therefore offers a convenient alternative that can be delivered effectively with specialist nursing support. The authors report their experience of providing ERT to a patient with Hunter syndrome in a school. Through careful planning and the development of close working relationships between nurses, schools, local hospitals and patients' families, the authors found that managing patients outside the hospital setting can greatly benefit their quality of life.

Distress, trauma, and recovery: adjustment to first episode psychosis.

OBJECTIVE: To understand the experiences that people with early psychosis are adjusting to and their perceived barriers to recovery. METHOD: Semi-structured interviews were conducted with eight participants. Grounded Theory was applied to the design and analysis. Sampling and coding ceased when saturation of the data was reached. Respondent validation was sought from participants. RESULTS: A theoretical model was developed using Strauss and Corbin's (1998) framework. A core category of distress was elicited, which was evident in all participants' accounts of their recovery. Overall six main categories were identified and it was proposed that individuals were adjusting to the distress of past experiences, uncertainty, a challenged identity, being in a psychiatric system, the reaction of others and social disadvantage. CONCLUSIONS: Recovery from the distress and trauma of early psychosis does not simply involve adjustment to and recovery from a single experience or set of symptoms. The results are discussed in relation to trauma, developmental, and social inequality frameworks. Specific implications for clinical practice include incorporating the findings within formulations, developing interventions that focus on trauma, identity, and uncertainty as well as addressing the social and systemic issues identified.

A prospective study of relationships between propositions about risk and driver speeding.

Risk propositions are specific and modifiable hypotheses that people hold about the outcomes of risk-taking behavior. According to fuzzy trace theory (FTT), risk propositions arise from the subjective and idiosyncratic interpretations that people make about the meaning of risk information, and form the primary basis of decision-making. A community sample of 255 drivers was interviewed at baseline (T1), 6 weeks after baseline (T2) and 14 weeks after baseline (T3). We tested whether propositions about speeding-related risk at time 1 (T1) would predict speeding at time 3 (T3), controlling perceptions of speeding-related danger and other speeding-related variables (the perceived possibility of being caught and the enjoyment and excitement to be gained from speeding) measured at time 2 (T2). We also tested whether relationships between T1 propositions and T3 speeding would be mediated by T2 perceptions of danger. T1 propositions predicted T3 speeding independently of the control variables, and we also found evidence consistent with mediation by T2 danger. In line with FTT, risk propositions were not scaleable as a single dimension, but generally predicted speeding as independent entities. Taken together these findings support the view that drivers perceive speeding risk as a series of potentially modifiable propositions which may have item-specific influences on speeding behavior.

Psychological adjustment to gynaecological cancer: patients' illness representations, coping strategies and mood disturbance.

This study examined associations between illness representation dimensions specified by the self-regulation model, coping and mood in recently diagnosed gynaecological cancer patients. Participants were 61 patients recruited from a specialist outpatient gynaecology clinic. Patients completed a survey measuring their cognitive illness representations (IPQ-R), coping strategies (COPE) and mood (POMS-SF). Consistent with research into other illnesses, the study found theoretically congruent cross-sectional associations between illness representations and mood disturbance. Support was found for a possible path whereby higher denial and avoidant coping might mediate the relationships between cyclical timeline and illness coherence representations and more negative mood. There were no mediational relationships for other coping strategies. Mediation of the relationship between illness representations and mood by avoidant coping has important theoretical and practical implications. These are discussed, as are direct relationships between illness representations and mood.