Children with neuromuscular conditions such as cerebral palsy, spina bifida, Duchenne muscular dystrophy and spinal muscle atrophy are well-known to pediatric orthopaedic surgeons who attempt to ameliorate the problems created by hypertonicity, weakness, and muscle power imbalance, such as soft tissue contractures and limb and spine deformities. Each condition has a range of severity, and many children live far into adulthood. Individuals with these conditions report that the adult health care system does not understand their needs and that their pediatric care team did little to help them with the transition to adult care. In addition, questions exist about the long-term outcomes of musculoskeletal intervention performed during childhood. The purpose of this paper is to review recent publications that address these topics and provide additional insights from 2 health care organizations that provide care for these conditions that extends into adulthood.
A search of recent literature pertaining to the musculoskeletal and functional consequences of cerebral palsy, spina bifida, Duchenne muscular dystrophy, and spinal muscle atrophy was performed. Convenience-based selection of the pertinent literature was performed; no systematic review protocol was utilized. Information from those articles was combined with the experience of the authors and their institutions.
The number of children with special health care needs in the United States has been estimated to range from 0.16% to 12% depending on the definitions used.1–3 Definitions that utilize medical record coding systems and include various forms of medical technology assistance such as tracheostomy, respirators, ostomy sites for nutrition, ureteral catheters or diversions, implanted pumps and chronic intravenous access sites suggest that 0.2% to 3.0% of children have a chronic complex condition (CCC). The care of these children can be challenging.4,5 By 2009 children with CCC represented 19.2% of all pediatric admissions, utilized 49.9% of all pediatric inpatient days, and consumed 53.2% of pediatric inpatient charges.6 One study of children with CCC demonstrated frequent admissions, longer stays, and high rates of readmission within 30 days.7 Respiratory tract problems were the most common reason for admission (29%), followed by gastrointestinal/nutritional reasons (16%) and malfunction, complication or infection related to technology assistance (9%). Almost half (47%) of admissions involved a surgical operation or major procedure (with 35% directed at gastrointestinal/nutritional or respiratory needs).
Children with cerebral palsy, spina bifida, Duchenne muscular dystrophy and spinal muscle atrophy are a part of the CCC group. The incidence of cerebral palsy is ∼2 per 1000 live births, the incidence of spina bifida is ∼3/10,000, the incidence for Duchenne muscular dystrophy is ∼1/3500, and the incidence of spinal muscle atrophy is ∼1/1000. Children with these conditions all exhibit the care complexity described above. Despite this, survival to adulthood has increased.8–11 Effective management in neonatal intensive care units and medical technology assistance has enabled children with the most severe forms of cerebral palsy to live much longer although their underlying fragility makes them more vulnerable to the common health problems of aging. Intraventricular shunts, good management of neurogenic bowel and bladder dysfunction and studious avoidance of skin ulceration has extended the lives of individuals with spina bifida. Young men with Duchenne muscular dystrophy have benefited from steroids, and children with spinal muscle atrophy appear to be on the threshold of effective gene replacement therapies. Life as an adult with a childhood-onset neuromuscular condition can be challenging. The brain lesion of cerebral palsy, for instance may be static but the effects of the lesion create change in the body during growth and adulthood leading to increased physical and social dysfunction and deteriorating health.12
Pain can be particularly troublesome.9,13 A recent meta-analysis of research about the prevalence and characteristics of pain in adults with cerebral palsy demonstrated tremendous variation with 14% to 76% of individuals who were able to describe their experience reporting lower extremity, back and abdominal pain that interfered with function and quality of life.14 Studies consistently demonstrate that reports of pain are more common in females and individuals with more severe motor impairment, and the experience of pain increases with age.15 Other studies describe the consequences of progressive contractures, hip dysplasia, spine deformity, and reduced bone mass, including decreasing ambulation and mobility and higher levels of fatigue.16–19
Musculoskeletal surgeries during childhood have the potential of creating improved function that is sustained into adulthood. In cerebral palsy, one of the most common causes of decreased ambulation in adults is progressive knee flexion contractures and patella alta. Single-event multifocal surgeries guided by 3-dimensional motion analysis have demonstrated the ability to improve this problem.20,21 Hip and spine deformity is also common in severe cerebral palsy, and surgical care can include high rates of complications.16 Nonetheless, scoliosis surgery can lead to significant improvement in health-related quality of life if surgeons and caregivers identify appropriate goals, steps are taken to reduce complications, and complications are managed effectively if they occur.22–25 Upper extremity deformities can create pain and dysfunction. Careful examination and planning can lead to surgical interventions that improve function in important ways including the ability to manage electronic interfaces that assist communication and mobility (Van Heest).26
Young adults with complex childhood-onset neuromuscular conditions experience significant problems obtaining informed, collaborative multidisciplinary care.27 Multiple studies demonstrate that adolescents have unmet health care needs and this only increases when they enter the adult health care system.28 On a list of possible unmet physical needs certain things stand out: pain, bone and joint problems, spine deformity, tone and motor control, and bowel and bladder dysfunction. Why is there so much unmet need? The simple answer is that our patients find themselves in a space between the pediatric and adult health care worlds.29 The pediatric system holds expertise but feels unable to provide care for adults. The spaces and systems and processes of care for children and adolescents are different and the clinical teams often feel they lack the knowledge and skills to manage the new problems that come with aging. And, there is the fear that including adults will reduce the focus that children need to receive the best care.
This is understandable but, at the same time, the adult system is equally uncomfortable. It is unfamiliar with childhood-onset problems, lacking knowledge, skills, appropriate environments, necessary systems and processes, and interest. It is busy managing the typical problems of adults. Many who manage the provision of adult health care also fear the chronic underfunding of adults with disabilities. As a result, very few adolescents and young adults with any of the complex musculoskeletal conditions that are familiar to pediatric orthopaedists transition into a coordinated multidisciplinary health care program that resembles the care they received as a child.
This situation leads to a dearth of high-quality, long-term natural history and treatment outcome studies that reach into adulthood for many of the problems we encounter in children with complex musculoskeletal conditions. This is an unmet need for today’s pediatric orthopaedic surgeons. We have well-established paradigms, and strong opinions, regarding the management of certain problems in children. These are based on the desire to help and the belief that what we do matters, especially the belief that our actions have positive impacts on our pediatric patients into their adult lives. Often this is true, as demonstrated in the articles reviewed. But, if follow-up by the pediatric orthopaedic surgeon stops at age 18 or 21 years, and there is no consistent management and follow-up in the adult health care system, then the results of our decisions and actions will not be known. As pediatric orthopaedic surgeons we focus on body structures and how they function. We tend to judge our efforts by how close we bring our patients to the appearance and function of children and adolescents with typical musculoskeletal development. We need to think more broadly when providing care to children with neuromuscular conditions and consider how our interventions and procedures will affect independence, function, activities, and participation.
There is much to learn. Gannotti et al used a cross-sectional, self-reported on-line survey with structured questions and open text boxes to ask adults with cerebral palsy about factors they associated with quality of life, success in life, and the outcomes of childhood orthopaedic care.30 The results showed that 82% of the respondents reported a good, very good, or excellent quality of life. The group demonstrated 2 clusters. Both clusters included good health and interpersonal/romantic relationships among the 5 most important factors for quality of life. One cluster also included participation in society, communication, and accessibility to the community. The other cluster included employment, personal independence, and education. Both groups equated personal independence with the ability to live and get around on one’s own, and perform activities of daily living. When asked what defined success in adult life, 4 themes were found: being happy, having independence, meaningful relationships and activities, and lifelong learning. The majority (58%) felt that orthopaedic care in childhood had a positive impact on function as an adult, but 21% were not sure and 23% believed it was not helpful. Those who felt their concerns were listened to as a child were more likely to view childhood surgery as beneficial. Text comments included 4 themes: concerns about unsatisfactory outcomes, not receiving services they needed, not achieving desired improvements, and experiencing decline with aging. The key components of unsatisfactory outcomes were medical complications, loss of function, the need for more surgery, pain, and the loss of self-esteem and social time. When asked “If you could change one thing about your childhood treatment, what would it be?” three themes emerged: access to best practices, care coordination, and person-centered care. The perceived elements of best practices included communication, with good information about treatment options, timing and outcomes, and care that was centered on their needs and avoided gaps (especially during the transition to adulthood).
Information like this, combined with technical outcome studies and the experience of being with our patients as they age into adulthood, will help us understand what is important to our patients, their families and their caregivers. It will also help us advise our younger colleagues so that they, and their patients, can avoid a learning curve that we have already experienced. Adults with childhood-onset neuromuscular conditions need, and deserve, dedicated health care that includes the best aspects of the care they received as children.
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