Stakeholder engagement in the development of an upper extremity outcome measure for children with rare musculoskeletal conditions.

BACKGROUND: Upper extremity (UE) involvement is prevalent in 73% of individuals with arthrogryposis multiplex congenita (AMC), yet no AMC-specific outcome measure exists. When developing a measure specific to a population with a rare musculoskeletal condition, clinicians' and patients' perspectives and involvement is a crucial and necessary step. This study sought to determine the most clinically useful items for an outcome measure of UE function for children with AMC as defined by caregivers and clinicians. METHODS: To ensure the perspectives and needs of caregivers of children with AMC and clinicians were considered in the development of the UE measure for AMC, a Nominal Group technique (NGT) with caregivers of children with AMC (phase 1) followed by a three-round survey with clinicians (phase 2) were carried out. RESULTS: Phase 1: Eleven individuals participated in the nominal group technique and identified 32 items. The most important items were Picking up an object (n = 11), Eating (n = 10), Reaching mouth (n = 10), Getting out of bed (n = 10). Phase 2: Invitations to participate to an online survey was sent to 47 experts in the field of AMC, 20 participants completed round 1, 15 completed round 2 and 13 completed round 3. Throughout the survey, participants were asked about movement required to screen the UE, essential domains to be included in the measure, establishing a scoring guide and identifying tasks associated with joint motion and position. CONCLUSION: A preliminary version of an UE AMC-specific outcome measure was developed with the help of caregivers' perspectives and expert opinions.

Arthrogryposis multiplex congenita (AMC) is a rare musculoskeletal condition affects the joints and muscles of the body. In about 70% of the cases, it affects the upper extremities (UE). However, there is no specific outcome measure for UE function in children with AMC. An outcome measure refers to a tool or method used to assess and measure the results or effects of a particular treatment, intervention, or condition. It helps healthcare professionals and researchers understand the impact or outcome of a specific situation, such as the level of improvement or changes in a person's health or function. The goal of this study was to develop such a measure while accounting for the perspectives of youth with AMC, their caregivers and clinicians. To achieve this, a study was conducted in two phases. In the first phase, a Nominal Group technique (NGT) was used to gather input from caregivers of children with AMC. Eleven individuals participated and identified 32 items, with the most important being picking up an object, eating, reaching the mouth, and getting out of bed. In the second phase, a three-round survey was sent to 47 experts in the field of AMC, with 20 participants completing the first round, 15 completing the second round, and 13 completing the third round. The survey asked participants about screening UE movement, essential domains to include in the measure, establishing a scoring guide, and identifying tasks associated with joint motion and position. With the help of caregivers' perspectives and expert opinions, a preliminary version of an UE AMC-specific outcome measure was developed. This measure will be useful in assessing the UE function in children with AMC and will aid clinicians in developing appropriate treatment plans for this rare condition.

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.

Predicting ambulatory function at skeletal maturity in children with moderate to severe osteogenesis imperfecta.

Maximizing ambulation is a key treatment aim in moderate to severe osteogenesis imperfecta (OI). Here we investigated which early clinical characteristics predicted ambulation function at skeletal maturity. We assessed Bleck ambulation scores in 88 individuals with OI at 5 to 6 years of age and again at final height (at 15 to 24 years of age). At 5 to 6 years of age, 33 (38%) children were non-ambulators, 32 (36%) were fully independent ambulators, and 23 (26%) had intermediate ambulation skills. At skeletal maturity, 58% of the study participants had the same mobility level as at first assessment. The ability to ambulate independently at skeletal maturity was predicted by independent ambulation at 5 to 6 years (odds ratio [OR] 22.6, 95% confidence interval [CI] 4.9-105; P < 0.001), height z score at 5 to 6 years (OR 3.1, CI 1.6-6.3; P = 0.001) and weight z score at 5 to 6 years (OR 0.44, CI 0.19-0.99; P = 0.04).Conclusion: Independent ambulation at 5 to 6 years was the main determinant of independent ambulation at skeletal maturity. This highlights the importance of maximizing ambulation in children below 5 years of age. What is Known: •walking ability varies markedly between OI types. The highest level of mobility was found in OI type I, the lowest in OI type III who require mobility aids; intermediate levels were reported for OI type IV. • OI type is a key predictor of ultimate ability to ambulate, whereas the timing of developmental milestones was not associated with walking ability What is New: • overall key predictors of mobility function at skeletal maturity were mobility status and height z-score at 5-6 years of age • Childrenwho were non-ambulators at 5 to 6 years of age had a higher chance of having better mobility at skeletal maturity if they had good upper extremity function, as expressed in the PEDI Self Care Score.

A review of the orthopedic interventions and functional outcomes among a cohort of 114 children with arthrogryposis multiplex congenita.

PURPOSE: Arthrogryposis multiplex congenita (AMC) refers to a large heterogeneous group of conditions involving joint contractures in two or more different areas of the body. Contractures can lead to decreased range of motion and strength, and affect ambulation and autonomy. The aim of this study was to describe the orthopedic interventions and functional outcomes of a large cohort of children with AMC followed in a pediatric orthopedic center. METHODS: A retrospective chart review of all children diagnosed with AMC followed at Shriners Hospital for Children - Canada (SHC) between January 1979 and July 2016 was conducted. One hundred twenty patients were identified, of whom six were excluded due to misdiagnosis or insufficient chart information. One hundred fourteen were retained. Patient demographics, AMC classification, comorbidities, operative and non-operative treatments received as well as community ambulation status, level of autonomy in self-care and transfers at latest follow-up were recorded. RESULTS: There were 54 males and 60 females with a mean age at last clinic visit of 10 years 3 months. Amyoplasia and distal arthrogryposis (DA) were equally represented in our sample, 47 (41.2%) and 49 (43.0%) participants respectively, with the category Other comprising the remaining 18 (15.8%) participants. Children with DA had less involvement of the proximal joints than those in the two other groups. Contractures and deformities of the foot and ankle were the most prevalent, affecting 91.5% with Amyoplasia, 85.7% with DA and 83.3% in the Other category. Contractures of the shoulder and elbow were more common among individuals with Amyoplasia and those categorized Other than those with DA. In terms of walking ability, 98% of participants with DA were independent ambulators. Walking ability varied among the Other participants. Similarly, most children with DA were independent in self-care and transfers at the most recent follow-up. CONCLUSION: The relatively large sample size of this study allowed for a better insight into the challenges associated with AMC management. These findings demonstrated the need for genetic testing to provide accurate diagnosis and classification, along with the use of standardized outcome tools to measure effectiveness of interventions. As AMC is rare, multi-site prospective studies are needed to improve research opportunities, develop functional measures specific to AMC and disseminate findings on a wider scale.

Rehabilitation across the lifespan for individuals with arthrogryposis.

Arthrogryposis multiplex congenita (AMC) can be a perplexing diagnosis that consists of limited range of motion (ROM) and decreased muscle strength in multiple joints. The person with AMC often possesses a certain tenacity and "spunk" that assists them with adjusting and adapting to the realities of daily life. The rehabilitation process assists the individual with AMC in achieving and maintaining the maximal active and passive range of motion and strength in order to participate in activities of daily living (ADL) throughout the developmental stages. The result of this life-long process is greatly impacted by collaboration among the multidisciplinary teams. Ultimately, rehabilitation should focus on three levels of treatment: (a) body structure, (b) activity, and (c) participation. This article describes rehabilitation across the lifespan-focusing on the therapeutic needs in the infant, toddler, school age and teenage/adult years-while also highlighting opportunities for improvement.

Vacuum bell treatment of pectus excavatum: An early North American experience.

PURPOSE: Conservative treatment of pectus excavatum with a vacuum bell device may be an attractive alternative to surgical repair. We describe an early North American experience with this device. METHODS: Prospectively maintained chest wall clinic registries from two institutions were reviewed to identify pectus excavatum patients ≤21 years treated with the vacuum bell from 2013 to 2017. Multivariate linear regression was used to compare mean improvements in deformity-depth and Haller Index between groups of patients based on age and usage metrics (hours/day and days/week). RESULTS: Thirty-one patients with a median age of 14 years received treatment with the device. Mean follow-up duration was 18 months. Median depth and Haller Index at treatment onset were 2.3 cm and 3.9, respectively. Improvements in deformity-depth were superior with device usage >2 h/day (p < 0.01) and daily use (p < 0.01). After adjusting for compliance, younger age of treatment onset was associated with greater improvement in Haller Index but not deformity depth. CONCLUSION: Our prospective early North American experience found the vacuum bell to be a potential alternative to surgical treatment for pectus excavatum. Longer usage periods in a daily frequency are associated with best results. TYPE OF STUDY: Treatment study; case series with no comparison group. LEVEL OF EVIDENCE: Level IV.

Functional Gains in Children With Spastic Hemiplegia Following a Tendon Achilles Lengthening Using Computerized Adaptive Testing-A Pilot Study.

PURPOSE: This pilot study evaluated the outcomes of tendon Achilles lengthening in 12 children (mean age: 11.2 years) with spastic hemiplegia. METHODS: Cerebral Palsy Computer Adaptive Tests, the timed up-and-go, the Gross Motor Function Measure, the Gillette Functional Assessment Questionnaire, and the Pediatric Outcomes Data Collection Instrument were administered at baseline and at 6, 12, and 24 months postsurgery. RESULTS: Significant improvement at the latest follow-up (12-24 months following surgery) was seen in all domains of the Cerebral Palsy Computer Adaptive Test: activity (P = .017), lower extremity (P = .005), global (P = .005), pain (P = .005), and fatigue (P = .028), as well as in the Gross Motor Function Measure-D domain (P = .02) and the mobility domain of the Pediatric Outcomes Data Collection Instrument (P = .04). CONCLUSION: These findings indicate that the tendon Achilles lengthening improved functional outcome in these children as measured by tests of physical function, walking speed, and activity performance.

Consensus statement on physical rehabilitation in children and adolescents with osteogenesis imperfecta.

On the occasion of the 13th International Conference on Osteogenesis imperfecta in August 2017 an expert panel was convened to develop an international consensus paper regarding physical rehabilitation in children and adolescents with Osteogenesis imperfecta. The experts were chosen based on their clinical experience with children with osteogenesis imperfecta and were identified by sending out questionnaires to specialized centers and patient organizations in 26 different countries. The final expert-group included 16 representatives (12 physiotherapists, two occupational therapists and two medical doctors) from 14 countries. Within the framework of a collation of personal experiences and the results of a literature search, the participating physiotherapists, occupational therapists and medical doctors formulated 17 expert-statements on physical rehabilitation in patients aged 0-18 years with osteogenesis imperfecta.

Functional Outcome of Forearm Rodding in Children With Osteogenesis Imperfecta.

BACKGROUND: The impact of corrective forearm surgery on functional ability in children with osteogenesis imperfecta (OI) has not previously been reported. This study addresses this issue. METHODS: A retrospective chart review was conducted on 19 children with OI who underwent 22 corrective forearm procedures between 1996 and 2013. Functional ability was assessed preoperatively and every year postoperatively using the Pediatric Evaluation of Disability Inventory (PEDI). RESULTS: The mean PEDI self-care score increased by 6.8 (P=0.017) and the mean PEDI mobility score increased by 7.2 (P=0.020) at 1-year postsurgery. Functional gains were greater in moderate OI (types IV, V, and VI) than in severe OI (type III). Improved function was maintained in the majority of cases at a mean of 8.9 years postcorrection. CONCLUSIONS: Corrective forearm surgery in children with OI leads to improved functional ability. LEVEL OF EVIDENCE: Level IV.

Functional Outcome of Humeral Rodding in Children With Osteogenesis Imperfecta.

BACKGROUND: The impact of humeral rodding on functional ability in children with osteogenesis imperfecta (OI) has not previously been reported. This article investigates this issue. METHODS: A retrospective chart review was conducted on 35 children with OI who underwent humeral rodding at our institution between 1995 and 2013. Fassier-Duval rods were inserted in 19 cases, K-wires in 13 cases, and Rush rods in 3 cases. Functional ability was assessed preoperatively and every year postoperatively using the self-care and mobility domains of the Pediatric Evaluation of Disability Inventory (PEDI). RESULTS: The mean PEDI self-care score increased by 5.7 (P=0.028) and the mean PEDI mobility score increased by 3.6 (P=0.008) at 1-year postsurgery. Improved function was maintained in the majority of cases at a mean of 7.0 years postcorrection. CONCLUSIONS: Humeral rodding in children with OI leads to significant improvement in functional ability. LEVEL OF EVIDENCE: Level IV.

Osteogenesis imperfecta.

Skeletal deformity and bone fragility are the hallmarks of the brittle bone dysplasia osteogenesis imperfecta. The diagnosis of osteogenesis imperfecta usually depends on family history and clinical presentation characterized by a fracture (or fractures) during the prenatal period, at birth or in early childhood; genetic tests can confirm diagnosis. Osteogenesis imperfecta is caused by dominant autosomal mutations in the type I collagen coding genes (COL1A1 and COL1A2) in about 85% of individuals, affecting collagen quantity or structure. In the past decade, (mostly) recessive, dominant and X-linked defects in a wide variety of genes encoding proteins involved in type I collagen synthesis, processing, secretion and post-translational modification, as well as in proteins that regulate the differentiation and activity of bone-forming cells have been shown to cause osteogenesis imperfecta. The large number of causative genes has complicated the classic classification of the disease, and although a new genetic classification system is widely used, it is still debated. Phenotypic manifestations in many organs, in addition to bone, are reported, such as abnormalities in the cardiovascular and pulmonary systems, skin fragility, muscle weakness, hearing loss and dentinogenesis imperfecta. Management involves surgical and medical treatment of skeletal abnormalities, and treatment of other complications. More innovative approaches based on gene and cell therapy, and signalling pathway alterations, are under investigation.

Muscle Function in Osteogenesis Imperfecta Type IV.

Results of previous studies suggest that children and adolescents with osteogenesis imperfecta (OI) type IV have muscle force deficits. However, muscle function remains to be objectively quantified in this population. This study aimed to assess upper and lower extremity muscle function in patients with OI type IV. It was carried out in the outpatient department of a pediatric orthopedic hospital; 27 individuals with OI type IV (7-21 years; 13 males), 27 age- and sex-matched individuals with OI type I, and 27 age- and sex-matched controls. Upper extremity muscle force was assessed with hydraulic hand dynamometry, and lower extremity muscle function (peak force per body weight and peak power per body mass) was measured by mechanography through five tests: multiple two-legged hopping, multiple one-legged hopping, single two-legged jump, chair-rise test, and heel-rise test. Upper-limb grip force was normal for patients with OI type IV when compared to height and sex reference data (average z-score = 0.17 ± 1.30; P = 0.88). Compared to age- and sex-matched controls, patients with OI type IV had approximately 30% lower-limb peak force and 50% peak power deficits (P values <0.05). At the lower-limb level, they had a 50% lower peak power than age- and sex-matched patients with OI type I (P < 0.05). Patients with OI type IV have normal upper-limb muscle force but a muscle function deficit at the lower-limb level. These results suggest that lower-limb muscle weakness may contribute to functional deficits in these individuals.

Success and duration of dynamic bracing for pectus carinatum: A four-year prospective study.

BACKGROUND: This study sought to establish factors that can prognosticate outcomes of bracing for pectus carinatum (PC). METHODS: Prospective data were collected on all patients enrolled in a dynamic bracing protocol from July 2011 to July 2015. Pressure of correction (POC) was measured at initiation of treatment, and pressure of treatment (POT) was measured pre- and post-adjustment at every follow-up visit. Univariate and Cox regression analysis tested the following possible determinants of success and bracing duration: age, sex, symmetry, POC, and POT drop during the first two follow-up visits. RESULTS: Of 114 patients, 64 (56%) succeeded, 33 (29%) were still in active bracing, and 17 (15%) failed or were lost to follow-up. In successful patients, active and maintenance bracing was 5.66±3.81 and 8.80±3.94months, respectively. Asymmetry and older age were significantly associated with failure. Multivariable Cox proportional hazard analysis of time-to-maintenance showed that asymmetry (p=0.01) and smaller first drop in POT (p=0.02) were associated with longer time to reach maintenance. CONCLUSIONS: Pressure of correction does not predict failure of bracing, but older age, asymmetry, and smaller first drop in pressure of treatment are associated with failure and longer bracing duration. LEVEL OF EVIDENCE: Prospective Study/Level of Evidence IV.

Safety and Efficacy of Botulinum Toxin A in Children Undergoing Lower Limb Lengthening and Deformity Correction: Results of a Double-blind, Multicenter, Randomized Controlled Trial.

BACKGROUND: Lengthening of the lower limb is a complex procedure in which pain management and complications such as pin-site infections and muscle contractures impact the family and affect the child's quality of life. As a result, the paralytic and antinociceptive actions of neurotoxins may be indicated in managing these complications; however, few studies have explored ways to improve outcomes after lengthenings. The objective of this study was to evaluate the safety and efficacy of botulinum toxin A (BTX-A) in children undergoing lower limb lengthenings and deformity correction. METHODS: Participants with a congenital or acquired deformity of the lower extremity requiring surgery to one limb were randomized to receiving either BTX-A as a single dose of 10 units per kilogram body weight, or an equivalent volume of saline solution. Pain, medication, quality of life, and physical function were assessed at different time-points. Adverse events were recorded in all participants. T test and χ tests were used to compare potential differences across both groups. RESULTS: Mean age of the 125 participants was 12.5 years (range, 5 to 21 y), and lengthenings averaged 4.2 cm. Maximum pain scores on day 1 postoperatively were lower in the BTX-A group (P=0.03) than in the placebo group, and remained significant favoring botox when stratifying by location of lengthening (femur vs. tibia). Clinical benefits for BTX-A were found for 3 quality of life domains at mid-distraction and end-distraction. When stratifying according to location of lengthening, there were significantly fewer pin-site infections in the tibia favoring botox (P=0.03). The amount of adverse events and bone healing indices were no different in both groups. CONCLUSIONS: The clinical differences in quality of life, the lower pain on the first postoperative day, and the lower number of pin-site infections in the tibia favoring BTX-A support its use as an adjunctive treatment to the lengthening process. The detailed analyses of pain patterns help inform families on the pain expectations during lower limb lengthenings. The amount of adverse events were no different in both groups, and bone healing rates were similar, indicating that the use of BTX-A in children undergoing limb lengthening and deformity correction is safe. LEVEL OF EVIDENCE: Level I.

Multidisciplinary Treatment of Severe Osteogenesis Imperfecta: Functional Outcomes at Skeletal Maturity.

OBJECTIVE: To determine the functional outcomes associated with long-term multidisciplinary treatment, intravenous bisphosphonate treatment, orthopedic surgery, and rehabilitation in children with severe osteogenesis imperfecta (OI) (diagnosed clinically as OI types III or IV). DESIGN: Retrospective study where outcomes were measured prospectively. SETTING: Pediatric orthopedic hospital. PARTICIPANTS: Adolescents (N=41; age range, 15-21y) with severe OI (OI type III: n=17; OI type IV: n=24) who had started therapy before the age of 6 years, had received treatment for at least 10 years, and had achieved final height. INTERVENTIONS: Intravenous bisphosphonate treatment, orthopedic surgery, and rehabilitation. MAIN OUTCOME MEASURE: Pediatric Evaluation of Disability Inventory. RESULTS: At the time of the last available follow-up examination, none of the individuals diagnosed with OI type III (most severely affected group) was able to ambulate without ambulation aids, whereas 20 (83%) patients with OI type IV were able to ambulate without ambulation aids. Regarding self-care, we specifically assessed 8 skills that we deemed essential for living independently (grooming; dressing; toileting; bed, chair, toilet, tub, and car transfers). Only 6 (35%) of the youths with OI type III were able to complete all 8 items, whereas 23 (96%) individuals with OI type IV managed to perform all tasks. Teens with OI type III often needed assistance for the transfer to toilet, tub, and car and for personal hygiene and clothing management associated with toileting, usually because of limitations in upper-extremity function. CONCLUSIONS: These observations suggest that further improvements in the functional status of the most severely affected children with OI are contingent on advances in the clinical management of upper-extremity issues.

Intravenous Bisphosphonate Therapy of Young Children With Osteogenesis Imperfecta: Skeletal Findings During Follow Up Throughout the Growing Years.

Cyclical intravenous bisphosphonate therapy is widely used to treat children with osteogenesis imperfecta (OI), but little is known about long-term treatment outcomes. We therefore reviewed 37 children with OI (OI type I, n = 1; OI type III, n = 14; and OI type IV, n = 22) who started intravenous bisphosphonate therapy before 5 years of age (median 2.2 years; range, 0.1 to 4.8 years), and who had a subsequent follow-up period of at least 10 years (median 14.8 years; range, 10.7 to 18.2 years), during which they had received intravenous bisphosphonate treatment (pamidronate or zoledronic acid) for at least 6 years. During the observation period, the mean lumbar spine areal bone mineral density Z-score increased from -6.6 (SD 3.1) to -3.0 (SD 1.8), and weight Z-score increased from -2.3 (SD 1.5) to -1.7 (SD 1.7) (p < 0.001 and p = 0.008). At the time of the last assessment, patients with OI type IV had significantly higher height Z-scores than a control group of patients matched for age, gender, and OI type who had not received bisphosphonates. Patients had a median of six femur fractures (range, 0 to 18) and five tibia fractures (range, 0 to 17) during the follow-up period. At baseline, 35% of vertebra were affected by compression fractures, whereas only 6% of vertebra appeared compressed at the last evaluation (p < 0.001), indicating vertebral reshaping during growth. Spinal fusion surgery was performed in 16 patients (43%). Among the 21 patients who did not have spinal fusion surgery, 13 had scoliosis with a curvature ranging from 10 to 56 degrees. In conclusion, long-term intravenous bisphosphonate therapy was associated with higher Z-scores for lumbar spine areal bone mineral density and vertebral reshaping, but long-bone fracture rates were still high and the majority of patients developed scoliosis.

Functional outcomes associated with adaptive seating interventions in children and youth with wheeled mobility needs.

OBJECTIVE: To determine the parent-reported functional outcomes associated with adaptive seating devices for wheeled mobility devices used by young people aged 1 to 17 years. DESIGN: Longitudinal case series. SETTING: Homes of participating parents. PARTICIPANTS: Parents (N=70, 63 mothers, 6 fathers, 1 grandmother) who had children with adaptive seating needs. INTERVENTION: Adaptive seating system for wheeled mobility devices. MAIN OUTCOME MEASURE: Family Impact of Assistive Technology Scale for Adaptive Seating (FIATS-AS). RESULTS: All parents completed the FIATS-AS 4 times-2 times before and 2 times after their child received a new adaptive seating system. Mixed-design analysis of variance did not detect significant mean differences among the FIATS-AS scores measured at baseline and 2 and 8 months after receiving the seating system (F2,134=.22, P=.81). However, the FIATS-AS detected a significant interaction between age cohort and interview time (F4,134=4.5, P<.001, partial η(2)=.16). Post hoc testing confirmed that 8 months after receiving the seating system was associated with a large improvement in child and family functioning for children <4 years, maintenance of functioning for children between 4 and 12 years, and a moderate decline in functioning for youth between 13 and 17 years. CONCLUSIONS: Adaptive seating interventions for wheeled mobility devices are associated with functional changes in the lives of children and their families that interact inversely with age. Future controlled longitudinal studies could provide further empirical evidence of functional changes in the lives of children and their families after the introduction and long-term use of specific adaptive seating interventions.

The impact of severe osteogenesis imperfecta on the lives of young patients and their parents - a qualitative analysis.

BACKGROUND: Osteogenesis imperfecta (OI) is a rare genetic disorder that causes increased bone fragility. Living with, caring for, and parenting a child with OI are all highly demanding and challenging. This study is a temporal analysis of the impact of severe OI on the lives of young patients and their parents. METHODS: This study was carried out at the Shriners Hospital for Children, a pediatric orthopedic hospital located in Montreal, Canada. Using qualitative interpretative description, we conducted semi-structured interviews with 24 subjects - 12 young patients diagnosed with severe OI and 12 of their parents. The interview data were subject to a predominantly inductive open thematic analysis and a temporal comparative analysis. We did a retrospective chart review to complement our data collection. RESULTS: We found that the impact of severe OI on the young patients and their parents was characterized by four themes: 1) Starting at the time of diagnosis, a series of stages shaped life and the return to every day "normal", 2) Living with OI was full of "ups and downs" throughout life, 3) Every day "normal" life with OI consisted of significant changes for parents and challenges for the whole family, and 4) Living with OI generated some positive experiences. CONCLUSION: This study contributes to a better theoretical understanding of the impact of severe OI on families. It also has some practical implications for the development of effective support systems for patients with severe OI and their families.

Long-term functional benefits of selective dorsal rhizotomy for spastic cerebral palsy.

OBJECT: Large-scale natural history studies of gross motor development have shown that children with spastic cerebral palsy (CP) plateau during childhood and actually decline through adolescence. Selective dorsal rhizotomy (SDR) is a well-recognized treatment for spastic CP, but little is known about long-term outcomes of this treatment. The purpose of this study was to assess the durability of functional outcomes in a large number of patients through adolescence and into early adulthood using standardized assessment tools. METHODS: The authors analyzed long-term follow-up data in children who had been evaluated by a multidisciplinary team preoperatively and at 1, 5, 10, and 15 years after SDR. These evaluations included quantitative, standardized assessments of lower-limb tone (Ashworth Scale), Gross Motor Function Measure (GMFM), and performance of activities of daily living (ADLs) by the Pediatric Evaluation of Disability Inventory in children who had been stratified by motor severity using the Gross Motor Function Classification System (GMFCS). In addition, group-based trajectory modeling (GBTM) was used to identify any heterogeneity of response to SDR among these treated children, and to find which pretreatment variables might be associated with this heterogeneity. Finally, a chart review of adjunct orthopedic procedures required by these children following SDR was performed. RESULTS: Of 102 patients who underwent preoperative evaluations, 97, 62, 57, and 14 patients completed postoperative assessments at 1, 5, 10, and 15 years, respectively. After SDR, through adolescence and into early adulthood, statistically significant durable improvements in lower-limb muscle tone, gross motor function, and performance of ADLs were found. When stratified by the GMFCS, long-lasting improvements for GMFCS Groups I, II, and III were found. The GBTM revealed 4 groups of patients who responded differently to SDR. This group assignment was associated with distribution of spasticity (diplegia was associated with better outcomes than triplegia or quadriplegia) and degree of hip adductor spasticity (Ashworth score < 3 was associated with better outcomes than a score of 3), but not with age, sex, degree of ankle plantar flexion spasticity, or degree of hamstring spasticity. In a sample of 88 patients who had complete records of orthopedic procedures and botulinum toxin (Botox) injections, 52 (59.1%) underwent SDR alone, 11 (12.5%) received only Botox injections in addition to SDR, while 25 patients (28.4%) needed further lower-extremity orthopedic surgery after SDR. CONCLUSIONS: In the majority of patients, the benefits of SDR are durable through adolescence and into early adulthood. These benefits include improved muscle tone, gross motor function, and performance of ADLs, as well as a decreased need for adjunct orthopedic procedures or Botox injections. The children most likely to display these long-term benefits are those in GMFCS Groups I, II, and III, with spastic diplegia, less hip adductor spasticity, and preoperative GMFM scores greater than 60.