Life span care for patients with skeletal dysplasia: A roadmap.

Patients with skeletal dysplasias usually experience health related problems in different parts and systems of the body. Therefore, they face challenges in multiple domains of functioning and health. To address these different domains, interdisciplinary care should be the standard for these patients. The basic algorithm of interdisciplinary care can be similar for patients with different skeletal dysplasias, as many of the problems and needs are generic within different age groups. With increased age the domains in which patients with skeletal dysplasia face challenges will change and the focus and frequency of the interdisciplinary care should change accordingly. Thorough understanding of the specific characteristics of different skeletal dysplasias is required to create an individualized efficient interdisciplinary screening and care program. This paper presents the current structure and rationale of the interdisciplinary screening and care program of the skeletal dysplasia expert center of the University Medical Center Utrecht in the Netherlands. It is presented here, tailored to osteogenesis imperfecta, but the structure of the program is generic for all skeletal dysplasias.

Fractures in Osteogenesis Imperfecta: Pathogenesis, Treatment, Rehabilitation and Prevention.

Fractures in patients with osteogenesis imperfecta (OI) are caused by a decreased strength of bone due to a decreased quality and quantity of bone matrix and architecture. Mutations in the collagen type 1 encoding genes cause the altered formation of collagen type I, one of the principal building blocks of bone tissue. Due to the complexity of the disease and the high variation of the clinical problems between patients, treatment for these patients should be individually tailored. In general, short immobilization periods with flexible casting material, use of intramedullary implants, and simultaneous deformity correction are preferred. Multidisciplinary care with a broad view of the support needed for the patient and his/her living environment is necessary for the optimal rehabilitation of these patients. Increasing bone strength with exercise, medication, and sometimes alignment surgery is generally indicated to prevent fractures.

A roadmap to surgery in osteogenesis imperfecta: results of an international collaboration of patient organizations and interdisciplinary care teams.

Background and purpose - Involvement of patient organizations is steadily increasing in guidelines for treatment of various diseases and conditions for better care from the patient's viewpoint and better comparability of outcomes. For this reason, the Osteogenesis Imperfecta Federation Europe and the Care4BrittleBones Foundation convened an interdisciplinary task force of 3 members from patient organizations and 12 healthcare professionals from recognized centers for interdisciplinary care for children and adults with osteogenesis imperfecta (OI) to develop guidelines for a basic roadmap to surgery in OI.Methods - All information from 9 telephone conferences, expert consultations, and face-to-face meetings during the International Conference for Quality of Life for Osteogenesis Imperfecta 2019 was used by the task force to define themes and associated recommendations.Results - Consensus on recommendations was reached within 4 themes: the interdisciplinary approach, the surgical decision-making conversation, surgical technique guidelines for OI, and the feedback loop after surgery.Interpretation - The basic guidelines of this roadmap for the interdisciplinary approach to surgical care in children and adults with OI is expected to improve standardization of clinical practice and comparability of outcomes across treatment centers.

A standard set of outcome measures for the comprehensive assessment of osteogenesis imperfecta.

BACKGROUND: Osteogenesis Imperfecta (OI) is a genetic disorder also known as 'brittle bone disease'. The clinical manifestation of OI shows a wide variation. Therefore, care for patients with OI requires an interdisciplinary approach. The effectiveness of particular interventions and treatment protocols of interdisciplinary teams is not clear due to a non-standardized and wide variation of patient outcomes thus making the comparison of outcome measures available in the literature difficult. It is only by agreeing on a common, standard set of outcome measures for the comprehensive appraisal of OI that comparisons across interdisciplinary treatment centers for OI will be possible in the future. METHODS: The Key4OI international interdisciplinary working group of 27 members used a consensus-driven modified Delphi approach to develop a set of global outcome measures for patients with OI. The International Classification of Functioning, Disability and Health (ICF), was used to define domains and organize the outcomes from the literature search. After reviewing the outcomes extracted from the literature, trials and registries, the working group agreed on a final selection of domains and their definition (ICF definition as well as a lay description). These domains were then presented to the focus groups who prioritized the outcome domains by taking into account the items important to the OI community. All content was collected and analyzed and final domains were determined. A consensus of appropriate measuring instruments for each domain was reached with Delphi rounds. The entire approach was in line with the International Consortium for Health Outcomes Measurement ICHOM methodology. RESULTS: More than 400 different outcome measures were identified in our literature search. After three Delphi rounds, 24 domains were selected. After the focus group sessions, the number of domains were reduced to 15. A consensus was reached on the measuring instruments to cover these domains for both children and adults. CONCLUSION: The Key4OI project resulted in standard set of outcome measures focused on the needs and wishes of individuals with OI and their families. This outcome set will enable healthcare teams and systems to compare and to improve their care pathways and quality of care worldwide. Further studies are needed to evaluate the implementation of this standardized outcome set.

Psychological well-being in adults with spinal muscular atrophy: the contribution of participation and psychological needs.

Purpose: Patients with spinal muscular atrophy (SMA) suffer from slowly progressive weakness of axial, respiratory and proximal muscles, leading to restrictions in activity and participation. This study aims to investigate patients' level of psychological well-being, using the International Classification of Functioning model and self-determination theory as theoretical frameworks.Materials and methods: In this cross-sectional study, adults with SMA were invited to complete a questionnaire. Instruments to assess psychological well-being included the Satisfaction with Life Scale, the Rosenberg Self-Esteem Scale and the Positive and Negative Affect Scale. Hierarchical lineal regression analyses were performed to investigate the contribution of participation (International Classification of Functioning model) and satisfaction of the need for autonomy, competence and relatedness (self-determination theory) to well-being.Results: Ninety-two respondents (67%) returned the questionnaire. Levels of psychological well-being were comparable to that of healthy reference samples. Well-being was unrelated to sociodemographic variables or illness characteristics. By contrast, well-being was closely related to respondents' satisfaction with participation, and their sense of autonomy, competence and relatedness.Conclusions: This study illustrates the relevance of psychological needs for understanding well-being of individuals with SMA. Supporting patients in meeting their psychological needs should become an objective of person-centred care for this population.Implications for rehabilitationSpinal muscular atrophy is a rare inherited disease, characterized by slowly progressive muscle weakness.Psychological well-being, including satisfaction with life, self-esteem and emotional functioning of adults with spinal muscular atrophy appears very comparable with that of healthy reference samples.In line with the International Classification of Functioning framework, well-being in adults with spinal muscular atrophy may be improved by increasing their (satisfaction with) participation.Moreover, clinical assessment and management should focus on optimizing patients' satisfaction with their basic psychological needs (autonomy, competence, relatedness), as this is strongly related to indices of psychological well-being.

Parental empowerment in paediatric rehabilitation: Exploring the role of a digital tool to help parents prepare for consultation with a physician.

BACKGROUND: To explore experiences of parents of children with disabilities using the WWW, roadmap, a tool to support them in exploring needs, finding information, and asking questions of professionals and to explore differences between parents who had used the WWW-roadmap to prepare for consultation with their rehabilitation physician and parents who had not. METHODS: In a sequential cohort study, we included 128 parents; 54 used the WWW-roadmap prior to consultation and 74 received care-as-usual. Both groups completed questionnaires after consultation, assessing empowerment, self-efficacy, parent and physician satisfaction, family centredness of care, and experiences using the tool. Additionally, 13 parents were interviewed. RESULTS: Parents who used the WWW-roadmap looked up more information on the Internet. No other differences between parents and physicians were found. In the interviews, parents said that the WWW-roadmap was a useful tool for looking up information, exploring and asking questions, and maintaining a comprehensive picture. CONCLUSION: Using the WWW-roadmap prior to consultation did not improve self-efficacy, satisfaction, or family centredness of care. Findings suggest positive experiences regarding factors determining empowerment, creating conditions for a more equal parent-physician relationship. The WWW-roadmap is useful for parents to explore their needs and find information, but more is needed to support empowerment in consultations.

Natural course of scoliosis and lifetime risk of scoliosis surgery in spinal muscular atrophy.

OBJECTIVE: To investigate the natural course of scoliosis and to estimate lifetime probability of scoliosis surgery in spinal muscular atrophy (SMA). METHODS: We analyzed cross-sectional data from 283 patients from our population-based cohort study. Additional longitudinal data on scoliosis progression and spinal surgery were collected from 36 consecutive patients who received scoliosis surgery at our center. RESULTS: The lifetime probability of receiving scoliosis surgery was ≈80% in SMA types 1c and 2. Patients with type 2 who only learned to sit (type 2a) were significantly younger at time of surgery than those who learned to sit and stand (type 2b). The lifetime risk of surgery was lower in type 3a (40%) and strongly associated with age at loss of ambulation: 71% in patients losing ambulation before 10 years of age vs 22% losing ambulation after the age of 10 years (p = 0.005). In type 3a, preserving the ability to walk 1 year longer corresponded to a 15% decrease in lifetime risk of scoliosis surgery (hazard ratio 0.852, p = 0.017). Scoliosis development was characterized by initial slow progression, followed by acceleration in the 1.5- to 2-year period before surgery. CONCLUSION: The lifetime probability of scoliosis surgery is high in SMA types 1c and 2 and depends on age at loss of ambulation in type 3. Motor milestones such as standing that are not part of the standard classification system are of additional predictive value. Our data may act as a reference to assess long-term effects of new SMA-specific therapies.

Developmental trajectories of receptive and expressive communication in children and young adults with cerebral palsy.

AIM: The aim of this study was to determine the developmental trajectories of expressive (speech) and receptive (spoken and written language) communication by type of motor disorder and intellectual disability in individuals with cerebral palsy (CP). METHOD: The development of 418 participants (261 males, 157 females; mean age 9y 6mo [SD 6y 2mo], range 1-24y; Gross Motor Function Classification System (GMFCS) level I [n=206], II [n=57], III [n=59], IV [n=54], V [n=42]) was followed for 2 to 4 years in a longitudinal study. Communication performance was measured using the Vineland Adaptive Behavior Scales. The type of motor disorder was differentiated by type of CP as unilateral spastic (USCP, n=161), bilateral spastic (BSCP, n=202), and non-spastic (NSCP, n=55), while intellectual disability was determined by IQ or school type (regular or special). A multilevel analysis was then used to model the developmental trajectories. RESULTS: The most favourable development of expressive communication was seen in USCP (vs BSCP ß [SE]-2.74 [1.06], NSCP ß [SE]-2.67 [1.44]). The difference between the development trajectory levels of children with and without intellectual disability was smaller for children with USCP than for those with BSCP and NSCP. For receptive communication, the most favourable development was found for all children with USCP and for BSCP or NSCP without intellectual disability (vs intellectual disability ß [SE]-4.00 [1.16]). Development of written language was most favourable for children without intellectual disability (vs intellectual disability ß [SE]-23.11 [2.85]). INTERPRETATION: The development of expressive communication was found to be most closely related to type of motor disorder, whereas the development of receptive communication was found to be most closely related to intellectual disability.

Developmental trajectories of mobility and self-care capabilities in young children with cerebral palsy.

OBJECTIVE: To describe development of mobility and self-care capabilities in young children (aged 1-4 years) with cerebral palsy, and to examine whether the development of mobility and self-care capabilities differs by cerebral palsy severity in terms of 5 distinct Gross Motor Function Classification System (GMFCS) levels. STUDY DESIGN: This prospective longitudinal cohort study included 100 children with cerebral palsy (aged 1.5 or 2.5 years at baseline) and their parents. Mobility and self-care capabilities were assessed by the Pediatric Evaluation of Disability Inventory during yearly assessments from inclusion up to age 4.5 years. Longitudinal data for 92 children were available for analysis. Repeated-measures analyses with random coefficient analysis were performed using linear mixed models. RESULTS: Despite large variations among individuals in the development of mobility and self-care capabilities in young children with cerebral palsy, distinct developmental trajectories were found for children in different GMFCS levels. The estimated change per month differed significantly by GMFCS level for both outcomes. CONCLUSIONS: This longitudinal study provides an evidence base for prognosis in daily mobility and self-care skills in young children with cerebral palsy. The developmental trajectories for GMFCS levels can be helpful in communication between professionals and also in discussions of expectations and goal setting with families regarding mobility and self-care in the daily life of young children with cerebral palsy in neonatal follow-up and pediatric practice.

Is cognitive functioning associated with subjective quality of life in young adults with spina bifida and hydrocephalus?

OBJECTIVE: To test the hypothesis that cognitive functioning is associated with subjective quality of life of young adults with spina bifida and hydrocephalus (SBHC). DESIGN: Cross-sectional multi-centre study in The Netherlands. SUBJECTS: A total of 110 young adults with SBHC (16-25 years old, 63% female). METHODS: Cognitive domains measured were intelligence (Raven Standard Progressive Matrices), memory (Wechsler Memory Scale) and executive functioning (Wisconsin modified Card Sorting Test (WmCST), Trail Making Test A and B (TMT) and UNKA word production test). Subjective quality of life was measured with a visual analogue scale. Correlations and hierarchical regression analysis controlling for age, gender and functional independence were applied. RESULTS: The TMT score was significantly associated (-0.25) with subjective quality of life. In the hierarchical regression analysis both the WmCST and TMT scores were significant determinants of subjective quality of life (Beta values 0.24 and -0.31 respectively). Intelligence, memory and word production were not related to subjective quality of life. All 5 cognitive variables together explained a significant additional 14.6% of the variance of subjective quality of life (total explained variance 19.9%). CONCLUSION: Executive functioning was associated with subjective quality of life in young adults with spina bifida and hydrocephalus. This finding underlines the importance of examining cognitive functioning of persons with SBHC in addition to medical and functional status in medical care and outcome research.

Functional independence among young adults with spina bifida, in relation to hydrocephalus and level of lesion.

Knowledge about the level of functional independence that can be expected in adulthood might support decisions on the treatment of newborn infants with spina bifida. This study determined functional independence among young adults with spina bifida and its relationships with pathological characteristics known from birth (hydrocephalus and level of lesion). Data were collected from medical records and by physical examination. Functional independence was assessed on six domains (self-care, sphincter control, transfers, locomotion, communication, and social cognition) using the Functional Independence Measure (FIM). Participants were 165 patients with spina bifida (69 males, 96 females; age range 16 to 25y, mean 20y 9mo [SD 2.9]; 117 with hydrocephalus). Patients without hydrocephalus were independent for all FIM domains except sphincter control, as were patients with hydrocephalus with a lesion level below L2. Most patients with hydrocephalus and a lesion at L2 or above were dependent as regards sphincter control (98%), locomotion (79%), and self-care (54%), and quite a few needed support in transfers (38%), social cognition (29%), and communication (15%).

Sex education, relationships, and sexuality in young adults with spina bifida.

OBJECTIVES: To assess the adequacy of sex education and to determine the incidence of various difficulties encountered in relationships and sexual contact by young adults who have spina bifida (SB) with and without hydrocephalus (HC) in the Netherlands. DESIGN: Cross-sectional. SETTING: Community. PARTICIPANTS: Patients with SB occulta or aperta (N=157; 41% male; mean age, 20.8 y; age range, 16-25 y). Interventions Not applicable. MAIN OUTCOME MEASURES: Structured interview on sex education, relationships, sexual activities, and sexual functioning. RESULTS: Although sex education had been provided to almost all patients, fewer than a quarter received information specific to people with SB. Of all patients, 25% had a partner, 70% desired sexual contact, 47% had had sexual contact, and 22% had had sexual intercourse during the last year. Only 52% were satisfied with their present sex life. Incontinence and lack of self-confidence were important obstacles. Compared with patients without HC (HC-), patients with HC (HC+) less often had a partner, were sexually less active, and more often had problems with sexual functioning. Predictors of not having sexual contact were having HC and being male. CONCLUSIONS: Relationships and sexuality are important for young adults with SB. HC+ patients are less active and perceive more problems than HC- patients. Counseling in relationships and sexuality should be part of the regular care for this group.