Cognition and emotional distress in middle-aged and older adults with spina bifida myelomeningocele.

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.

Parental Intervention Program for Preschool children with Rare Diseases - a mixed methods evaluation of parents' experiences and utility.

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.

Community dwelling life- and health issues among persons living with chronic spinal cord injury in North Macedonia.

STUDY DESIGN: Cross-sectional study. OBJECTIVES: The purpose was to reveal late health consequences and life issues after a traumatic spinal cord injury (tSCI) in North Macedonia (NM). SETTING: Community dwelling adults with tSCI in NM. METHODS: Persons that sustained tSCI in 1999-2005 were selected, physical examined and a questionnaire was administered. Descriptive statistics were conducted. RESULTS: From 203 eligible persons, 40 agreed to participate. Mean (range) age at time of injury was 36 (27-75) years and time since injury ranged 9-20 years. Around seventy percent reported current health problems, of which pain and spasm (>60%) were most prevalent, followed by urinary tract infections and pressure injuries. About 30% had never been to a medical specialist and ≈70% had only once been to physiotherapy after discharge from the primary inpatient period. Only one participant had a fully adjusted home for a person with a disability. Those with most severe tSCI (American Spinal Injury Association Impairment Scale (AIS) A, B, and C) seldom left their homes. About 50% were retired and/or unemployed, 50% were working. CONCLUSION: This is the first study describing community-dwelling persons with a tSCI in NM. Our study revealed that persons with tSCI reported health issues mostly related to pain, spasms, urinary tract infections and pressure injuries. They lacked follow-ups, experienced physical barriers and poor inclusion in the society, and lacked financial support. Therefore, they were often socially isolated and fully dependent on their families. NM is in need of structured rehabilitation programs and better adaption for persons with reduced mobility.

Anxiety, depression, and fatigue in middle-aged and older persons with spina bifida: a cross-sectional study.

PURPOSE: To study psychological distress and fatigue among persons with spina bifida (SB) 50 years or older and living in Norway. METHODS: 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. RESULTS: 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). CONCLUSIONS: 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.IMPLICATIONS FOR REHABILITATIONClinicians 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.

Adults with Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome: A cross-sectional study of life satisfaction.

OBJECTIVE: To explore life satisfaction among adults with Loeys-Dietz and those with vascular Ehlers-Danlos syndrome. DESIGN: Postal survey in 2018. PARTICIPANTS AND METHODS: Persons with molecularly verified Loeys-Dietz syndrome or vascular Ehlers-Danlos syndrome were recruited through the National Resource Centre for Rare Disorders in Norway. The study used the Life Satisfaction Questionnaire 11, Hospital Anxiety and Depression Scale, Fatigue Severity Scale, and questions about physical activity and disease burden. Descriptive statistics were conducted with Bonferroni corrections. RESULTS: The response rate was 74%, 52 participants, age range 18-68 years, and 58% were women. Only half of the participants were satisfied with their lives as a whole. Participants reported dissatisfaction with vocation, somatic health, and sexual life in particular. Participants with vascular Ehlers-Danlos syndrome (n = 18) were satisfied with more areas of life than those with Loeys-Dietz syndrome (n = 34). Low overall satisfaction was significantly associated with severe fatigue (p = 0.002) and symptoms of anxiety (p = 0.001). CONCLUSION: This study provides important information about living with Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome. Future studies should identify factors that reduce/increase life satisfaction. Professionals in welfare systems need more information about the unique challenges of living with these diagnoses. Guidelines for research and clinical measurements of life satisfaction should be updated.

Cardiovascular risk factors and body composition in adults with achondroplasia.

PURPOSE: An increased cardiovascular mortality has been reported in achondroplasia. This population-based, case-control study investigated cardiovascular risk factors and body composition in Norwegian adults with achondroplasia. METHODS: We conducted anthropometric, clinical, and laboratory assessments in 49 participants with achondroplasia, of whom 40 completed magnetic resonance imaging (MRI) for body composition analysis. Controls consisted of 98 UK Biobank participants, matched for body mass index (BMI), sex, and age. RESULTS: Participants were well matched for BMI (33.3 versus 32.5 kg/m2) and sex, but achondroplasia participants were younger than controls (mean age 41.1 versus 54.3 years). Individuals with achondroplasia had lower age-adjusted mean blood pressure, total and low-density lipoprotein (LDL) cholesterol, and triglycerides compared with controls, but similar fasting glucose and HbA1c values. Age-adjusted mean visceral fat store was 1.9 versus 5.3 L (difference -2.7, 95% confidence interval [CI] -3.6 to -1.9; P < 0.001), abdominal subcutaneous fat was 6.0 versus 11.2 L (-4.7, 95% CI -5.9 to -3.4; P < 0.001), and liver fat was 2.2 versus 6.9% (-2.8, 95% CI -5.2 to -0.4; P = 0.02). CONCLUSION: Despite a high BMI, the cardiovascular risks appeared similar or lower in achondroplasia compared with controls, indicating that other factors might contribute to the increased mortality observed in this condition.

50 Years and older - born with spina bifida: participation, health issues and physical function.

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.Implications for rehabilitationWeight-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.

A scoping review presenting a wide variety of research on paediatric and adolescent patients with Marfan syndrome.

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.

Epidemiological characteristics and early complications after spinal cord injury in Former Yugoslav Republic of Macedonia.

STUDY DESIGN: Prospective cohort study OBJECTIVES: To describe epidemiological data and complications after acute traumatic spinal cord injury (tSCI) in Former Yugoslav Republic of Macedonia (FYROM). SETTING: University Clinic for Traumatology, Orthopedics, Anesthesia and Intensive Care Unit and Emergency Center (TOARILUC), Mother Teresa, Skopje, FYROM. METHOD: During the inclusion period March 2015 to September 2016, 38 tSCI patients were included. MRI, CT scan, and clinical examinations including International Standards for Neurological Classification of SCI were performed at admission. The information included: demographic data, transport type, date of admission and discharge, past illnesses, addiction habits, cause and type of injury, injury level, associated injuries, injury-related complications, and mortality. RESULTS: Mean age was 43 years (median 41, range 17-83). Seventeen patients had a complete and 15 an incomplete SCI, six were unknown. Most frequent causes for tSCI were traffic accidents (42%) and falls (40%), 24% of the accidents were contracted at work. Sixteen patients were ventilator dependent at some point during the acute period. Common complications were pressure ulcers, gastrointestinal-related, and infections. Hospital length of stay (LOS) ranged from 1 to 73 days. The in-hospital mortality rate was 32%. CONCLUSION: The annual incidence of tSCI in FYROM was in 2015-16 13 persons/million inhabitants per year. The epidemiological profile of tSCI in FYROM implies that preventive measures should be taken to reduce incidence of accidents in traffic and at work places. The high mortality rate and complications underline further actions to improve the acute care of tSCI in FYROM.

Cross-sectional and prospective data-collection in North Macedonia-methodological considerations.

Study design: Cross-sectional and prospective cohort-study. Objectives: To describe methodological issues, experienced challenges related to data collection in North Macedonia and to discuss possible improvements of epidemiological data collection in future studies. Setting: Clinic for Traumatology, Orthopedics, Anesthesia, Reanimation, Intensive Care Unit and Emergency Center, Mother Teresa Skopje University Hospital, Skopje and community settings, North Macedonia. Method: A description of methodological challenges experienced in collecting data from 78 persons with acute and chronic traumatic spinal cord injury (SCI) examined and interviewed in 2015-2017 using a semiquantitative questionnaire and standard assessments tools. Results: This study identified three major challenges with data collection in this setting: (1) research logistics and procedures, such as recruitment, infrastructure, and compensation, (2) ethical issues and the initial lack of mutual trust and understanding between researchers and participants, and (3) scientific quality and interpretation, including representativeness. Conclusions: Methodological issues influenced by settings, are important to consider when interpreting study results. Healthcare systems vary between (and sometimes in) countries, language and culture may introduce barriers to understanding, and epidemiological research also rely on infrastructure and surroundings. For this study, making time for and listening to the participants without being intruding was of special importance in building trust and a good relationship with the participants during recruiting participants and collecting data. We here provide suggestions regarding how to facilitate future epidemiological data collections in North Macedonia.

Fractures and musculoskeletal ailments in persons 20+ years after a traumatic spinal cord injury in Norway.

STUDY DESIGN: Cross-sectional study. OBJECTIVES: To gain insights into fracture rate and musculoskeletal ailments among Norwegians with a spinal cord injury (SCI) acquired more than 20 years ago. SETTINGS: Sunnaas Hospital, Nesoddtangen, Norway. METHODS: 165 persons with SCI were interviewed in 2004-2005 by questionnaires and clinical examination. Descriptive statistics and a logistic regression analysis were performed to identify variables associated with bone fractures and musculoskeletal ailments. RESULTS: Around half of the participants experienced a fracture after injury and excessive use of alcohol increased the odds (OR 0.09; CI 0.01-0.74) of suffering a post-injury fracture (p = 0.03). Sixty percent experienced shoulder ailments after the SCI and the use of orthosis to the knee and hip increased the odds (OR 4.4; CI 1.4-13) of experiencing shoulder ailment (p = 0.01). CONCLUSION: Around half of the 165 participants reported to have suffered a fracture and over 100 to experience musculoskeletal ailment 20 years after injury. We suggest that prevention strategies and symptom management must be embedded in follow-up visits after SCI.

Triage systems for pre-hospital emergency medical services - a systematic review.

The emergency medical services (EMS) cover initiatives and services established to provide essential medical assistance in situations of acute illness. Triage-methods for systematic prioritizing of patients according to how urgent patients need care, including triage of requests of acute medical treatment, are adopted in hospitals as well as in the pre-hospital settings. This systematic review searched to identify available research on the effects of validated triage systems for use in the pre-hospital EMS on health outcomes, patient safety, patient satisfaction, user-friendliness, resource use, goal achievement, and the quality on the information exchange between the different settings of the EMS (for example the quality of documentation). The specific research questions were: 1) are pre-hospital triage systems effective, 2) is one triage system more effective than others, and 3) is it effective to use the same triage system in two or more settings of the EMS-chain? We conducted a systematic literature search in nine databases up to June 2012. We searched for systematic reviews (SRs), randomized controlled trials (RCTs), non-randomized controlled trials (non-RCTs), controlled before and after studies (CBAs) and interrupted time series analyses (ITSs). Two persons independently reviewed titles and abstracts, and the same persons read all possibly relevant full text articles and rated the methodological quality where relevant. The literature search identified 11011 unique references. A total of 120 publications were read in full text. None of the identified articles fulfilled our inclusion criteria, thus our question on the effects of pre-hospital triage systems, if one system is better than other systems, and the question on effects of using the same triage system in two or more settings of the EMS, remain unanswered. We conclude that there is an evidence gap regarding the effects of pre-hospital triage systems and the effects of using the same triage system in two or more settings of the EMS. The finding does not mean that pre-hospital triage systems are ineffective, but that we lack knowledge about potential effects. When introducing a new assessment tool in the EMS, it is timely to conduct well-planned studies aimed to assess the effect.

Employment of persons with spinal cord lesions injured more than 20 years ago.

PURPOSE: The primary objective was to study factors influencing post-injury employment and withdrawal from work in persons who sustained traumatic spinal cord injury (SCI) more than 20 years ago. A secondary objective was to study life satisfaction in the same patients. METHOD: A cross-sectional study with retrospective data of 165 SCI-patients admitted to Sunnaas Rehabilitation Hospital 1961-1982. Multiple logistic regression was used to identify predictors for obtaining work post-injury. A Cox proportional hazards regression model was used to study factors influencing early withdrawal from work, i.e. time from injury until discontinuing employment. RESULTS: Sixty-five percent of the participants were employed at some point after the injury. Thirty-five percent still had work at the time of the survey. The odds of obtaining work after injury were higher in persons of younger age at injury, higher in males versus females, higher for persons with paraplegia versus tetraplegia, and for persons classified as Frankel D-E compared to a more severe SCI. Factors associated with shorter time from injury until discontinuing employment were higher age at injury, incidence of injury after 1975 versus before, and a history of pre-injury medical condition(s). Life satisfaction was better for currently employed participants. CONCLUSION: The study indicates a low employment-rate in persons with SCI, even several years after injury. From the results, we suggest more support, especially to persons of older age at injury and/or with a history of pre-injury medical condition(s), to help them to obtain work and sustain employed for more years after injury.

Return to work following spinal cord injury: a review.

PURPOSE: To review literature on return to work (RTW) and employment in persons with spinal cord injury (SCI), and present employment rates, factors influencing employment, and interventions aimed at helping people with SCI to obtain and sustain productive work. METHODS: A systematic review for 2000 - 2006 was carried out in PubMed/Medline, AMED, (ISI) Web of Science, EMBASE, CINAHL, PsycInfo and Sociological abstracts database. The keywords 'spinal cord injuries', 'spinal cord disorder', 'spinal cord lesion' or 'spinal cord disease' were cross-indexed with 'employment', 'return to work', 'occupation' or 'vocational'. RESULTS: Out of approximately 270 hits, 110 references were used, plus 13 more found elsewhere. Among individuals with SCI working at the time of injury 21 - 67% returned to work after injury. RTW was higher in persons injured at a younger age, had less severe injuries and higher functional independence. Employment rate improved with time after SCI. Persons with SCI employed ranged from 11.5% to 74%. Individuals who sustained SCI during childhood or adolescence had higher adult employment rates. Most common reported barriers to employment were problems with transportation, health and physical limitations, lack of work experience, education or training, physical or architectural barriers, discrimination by employers, and loss of benefits. Individuals with SCI discontinue working at younger age. CONCLUSIONS: This review confirmed low employment rates after SCI. Future research should explore interventions aimed at helping people with SCI to obtain and sustain productive work.

Mortality after spinal cord injury in Norway.

OBJECTIVES: To study mortality, cause of death and risk indicators for death in Norwegian patients with spinal cord injury. DESIGN: A cross-sectional study with retrospective data. SUBJECTS: All patients (n=387) with traumatic spinal cord injury admitted to Sunnaas Rehabilitation Hospital, Norway, during the period 1961-82. METHODS: Medical records were reviewed retrospectively. Causes of death were collected from Statistics Norway and death certificates. Standardized mortality ratios (SMRs) were calculated for the entire sample and for causes of death. To explore risk indicators for death, a Cox regression model was used. RESULTS: During the observation period, 1961-2002, 142 patients died. The main causes of death were pneumonia/influenza (16%), ischaemic heart diseases (13%) and urogenital diseases (13%). SMR was 1.8 for men and 4.9 for women. Cause-specific SMRs were markedly elevated for urogenital diseases, suicide, pneumonia/influenza, urogenital cancer, and diseases of the digestive system. Risk indicators for death were: higher age at injury, tetraplegia, functionally complete spinal cord injury, pre-injury cardiovascular disease, alcohol or substance abuse and psychiatric diagnosis. CONCLUSION: The SMRs show that life expectancy is reduced in chronic spinal cord injury in Norway, more for women than for men. Cause-specific SMRs and risk indicators suggest that the high mortality rates after spinal cord injury to a certain degree are related to preventable aetiologies. To maximize longevity in chronic spinal cord injury, more attention must be paid to co-morbidity.