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Purpose: To investigate cognitive functioning and emotional distress in adults aged 55 to 68 years old with spina bifida myelomeningocele (SBM), both with and without hydrocephalus. A secondary aim was to explore the associations between psychosocial factors in relation to emotional distress. Materials and methods: Cross-sectional study of eleven females and eight males with SBM, five with and twelve without hydrocephalus. Cognitive functioning was investigated with neuropsychological tests and self-report measures. Furthermore, participants completed questionnaires regarding resilience, access to social support, coping, and emotional distress. Descriptive statistics were applied, and Spearman Rho correlation coefficients were used to explore the relationships between psychosocial factors and emotional distress. Results: Eleven exhibited normal cognitive functioning. An observed difference was seen between participants with and without hydrocephalus, where six and five persons reported clinical levels of depression and anxiety, respectively. Positive perceptions of self and future were associated with lower levels of depression and anxiety. Conclusion: This study adds important information about cognitive functioning and emotional distress in an understudied population. The results indicated normal cognitive functioning in adults aged 55 to 68 years with SBM without hydrocephalus. Prevalence of emotional distress was comparable with previous studies of younger adults with SBM. There is a need for longitudinal studies investigating cognition and psychological health to fully capture important aspects of the life course of SBM with and without hydrocephalus. [ABSTRACT FROM AUTHOR]

To study psychological distress and fatigue among persons with spina bifida (SB) 50 years or older and living in Norway. In 2017, cross-sectional data were collected (n = 30). The Hospital Anxiety and Depression Scale (HADS) and the Fatigue Severity Scale (FSS) were used. Descriptive statistics, non-parametric tests, and Spearman correlations were performed. Relevant information from previous studies on adults with chronic spinal cord injury (SCI) and the general population, were collected for comparison. Participants were 18 women and 12 men, mean age 57.5 (SD 5.6), 26 with myelomeningocele, and six with hydrocephalus. Thirty percent scored above the HADS-A- and 20% above the HADS-D thresholds, thus in the same range as previous studies of SB, but higher compared to persons with SCI and norms. HADS-D correlated with pain and FSS scores. Forty percent reported fatigue symptoms (9/15 without hydrocephalus, 3/6 with hydrocephalus). The study revealed a high prevalence of fatigue symptomatology among middle-aged and older adults with SB. Symptoms of anxiety and depression were more common than among persons with chronic SCI and norms. SB follow-ups should include awareness of psychological distress and fatigue, and investigate pain and medication side effects among possible influencing factors. Clinicians treating adult persons with SB should be aware of possible psychological distress and fatigue symptomatology among these patients. We suggest an initial screening for psychological distress and fatigue in persons with SB during follow-up visits and rehabilitation. Interventions to reduce pain may influence levels of psychological distress and/or fatigue in patients with SB. Clinicians should enquire about the effects of medication on fatigue when assessing and prescribing new medications; a thorough medication review helps to assess the benefits and risks. [ABSTRACT FROM AUTHOR]

Purpose: To study physical function perspectives in persons with spina bifida (SB) aged ≥50 years. In relation to this, we also wanted to survey participation perspectives, health issues and health services usage. Methods: We used predefined fixed questions to interview community-dwelling adults with SB in Norway. Physical function assessments included Timed Up and Go, the Six Minute Walk Test, and BMI was calculated. Descriptive statistics were used, and logistic regression was performed to study variables associated with community walking. Results: Eighteen women and twelve men, twenty-four of them without hydrocephalus, participated in the study. Their mean age was 57.5 years (range 51–76). The majority were well-functioning persons, with 53% employed. However, deterioration in ambulation started at a median age of 40 years in >80% of the participants. Higher odds for being a community walker were found for sacral SB, BMI < 30, and/or being more physical active per week. More than 60% of the study sample used antihypertensive medication, and 43% were obese (BMI ≥ 30). Pain was a commonly perceived health problem. About 50% had been through a comprehensive SB-specific health evaluation in adulthood. Conclusion: The striking results on obesity, hypertension, pain and deterioration in ambulatory function in middle-aged and elderly SB cases call for action. Our findings elucidate the importance of prevention and clinical follow-up throughout the lifespan, even in well-functioning SB cases. Weight-management and interventions to reduce hypertension are issues that need attention in follow-up and as part of secondary rehabilitation in spina bifida. Early deterioration in ambulatory function and pain in spina bifida are target areas for multidisciplinary secondary rehabilitation, and should adequately focus on maintaining or improving "real-life" functioning performance. Neurogenic bowel and fecal incontinence are important in relation to social participation in ageing spina bifida. Rehabilitation programs and research should take the level of cele and hydrocephalus into account. [ABSTRACT FROM AUTHOR]

Aim: The present study aimed to map and summarise the research on children, aged 0-18 years, with Marfan syndrome, identify research gaps and point to research agendas.Methods: A scoping review was systematically performed by searching multiple databases from January 1996 to April 2019. Primary studies presenting results on at least six individuals aged 0-18 years with Marfan syndrome, diagnosed according to the Ghent nosology, were selected.Results: From 2341 de-duplicated records, 92 papers were included, mapped and described. Their topics were diagnostics (12%), cardiovascular matters (50%), skeletal matters (22%), ocular matters (9%), other medical aspects (5%) and psychosocial perspectives (2%). Most studies were from Europe and North America and published between 1999 and 2019 in subject-specific or paediatric journals, while a few were published in genetics journals. All studies had quantitative designs, and very few were multicentre studies. Each study had six to 608 subjects for a total of approximately 5809.Conclusion: A wide range of research topics on adolescent and paediatric Marfan syndrome was found, but qualitative studies and a focus on psychosocial matters were lacking. Future investigations addressing noncardiovascular consequences and patient experiences are needed, as well as studies reaffirming or replicating existing intervention study results. [ABSTRACT FROM AUTHOR]

Background: The purpose of this study was twofold: (i) To assess the parents' experiences and perception of participating in a "Parental Intervention Program for Preschool children with Rare Diseases" (PIPP-RDs). (ii) To evaluate which elements of the PIPP-RDs that the parents emphasized as important for improving their health literacy related to facilitating the transition of their children from kindergarten to school. Method: A mixed methods evaluation study was conducted ten and eleven months post-intervention, integrating an online quantitative survey combined with individual semi-structured interviews. Twenty-two parents participated in individual interviews, of these 18 also responded to the online questionnaire survey. Results: All parents that participated in this study reported that the information conveyed at the program was of great value and utility, 88% reported significantly alleviated stress associated to their child's school-start, 84% indicated had improved the school-home collaboration and 84% reported that it had encouraged them to establish contact with the school prior to school commencement. From the qualitative data five main themes emerged: (i) Competence and Knowledge Acquisition, (ii) Becoming more Prepared and Relaxed, (iii) Achieved Realistic Expectations, (iv) Enhanced Communication Skills, (v) Increased Health Literacy and Self-Efficacy. The evaluative findings suggest that this invention program has notably improved the parents' aptitude for school interaction, enhanced the adaptions according to children's needs for accommodations, and has provided reassurance in the school-home collaboration. Parents also described increased self-confidence and self-efficacy in managing the school start for children with RDs. Conclusion: The highly positive response of participating in PIPP-RDs may not only reflect the merits of the program's content, but also underscore the significant needs for such support during the transition to school for parents of children with RDs. Comparable initiatives, oriented towards enhancing the health literacy and empowering the parents, are anticipated to yield similarly favourable results. We argue that intervention program amalgamate pertinent information, group discourse, and workshops on school-related issues, alongside opportunities for parents to meet other parents in similar situations. [ABSTRACT FROM AUTHOR]