Disabilities in children with spina bifida include those due to central nervous system dysfunction, motor-and-sensory disturbances of the trunk and lower extremities, and excretory disorders. These lead to the necessity of a multidisciplinary approach by medical doctors, rehabilitation staff, nurses, and psychologists involved in the treatment. As motor weakness leads to disturbances in ambulation, physiatrists and physical therapists must deal with the patients with enough knowledge about the factors affecting ambulation, the assessment of motor function, and the indications/limitations of physical therapy and brace treatment. Ambulatory status is affected by motor and sensory deficits, deformities and contractures of the legs, spinal deformities, equilibrium, mental status and so forth, among which the neurosegmental level of paraplegia is the most important variable. Physical therapy in neonates and infants includes careful assessment of the neonate, manual exercise to correct deformities and to improve contractures, positioning and handling leading to sitting and standing exercises. Once the sitting balance is stable, standing and walking exercises should be considered. In patients with higher neurosegmental levels involved, the practical way of ambulation in the future is by wheelchair. Whether standing and walking exercises are indicated in these patients is controversial. In those with lower levels involved, braces may be prescribed considering the muscle strength and the joint stability. Treatments of hip dislocations and spinal deformities are also controversial. Finally, in the overall rehabilitation approach, the possibility of osteopenia and latex allergy should be kept in mind.

Skeletal dysplasias are developmental disorders of chondro-osseous tissue, and include 456 disorders according to "Nosology and Classification of Genetic Skeletal Disorders : 2010 Revision". Research on the rehabilitation for patients with skeletal dysplasias is scarce, but many patients experience various kinds of disabilities throughout their lives. Achondroplasia is a representative disorder manifesting short stature. In childhood, muscle hypotonia leads to delayed motor development. Individuals with achondroplasia may need support for their ADL, mainly ambulation. Though discussion exists as to whether short stature itself is a disability, growth hormone treatment and limb lengthening surgery are performed in some patients and patients undergoing the latter require postoperative physiotherapy. Leg deformities associated with knee joint laxity are refractory to brace treatment and treated with tibial osteotomies to prevent progression to osteoarthritis in some patients. In adulthood, spinal canal stenosis is a matter of great concern. Kyphosis at the thoracolumbar junction is a risk factor for early development of clinical symptoms, and must be prevented with posture management and spinal orthoses, if necessary, from childhood on. Osteogenesis imperfecta is a representative disorder manifesting bone fragility. Bone fragility constitutes a vicious cycle with fractures, fixation and reduced weight bearing as their treatment. A multidisciplinary approach to break this vicious cycle is mandatory, including orthoses and/or surgery to treat fragility/deformity of long bones and spinal deformities, medication for bone fragility, and rehabilitation to prevent fractures and improve ambulatory status. In rehabilitation planning, it is important to set an appropriate goal in ambulation.

Ambulation in patients with spina bifida is affected by many factors, of which neurosegmental level is the most influential. In addition, some ambulatory patients experience deterioration over time, though longitudinal studies are scarce. This study investigated patient ambulation and its related factors in 21 patients with open myelomeningocele who were followed from infancy until over 15 years of age. In five patients, ambulation at the final visit exceeded the goal set up by Oki according to the patient's neurosegmental level. As these patients had L3 or L4 paralysis, our estimation of their neurosegmental level made according to Menelaus, which differs from that made using Sharrard's classification, may have influenced this result. Ambulation in five patients was below the goal, and two patients among this group experienced ambulatory deterioration during the follow-up period. In these five patients, as compared with the remaining 11 patients, the incidence of scoliosis, hip dysplasias, and obesity was higher, which may have influenced their lower ambulation status.

Introduction : The purpose of this study was to clarify the effectiveness of a home exercise (HE) program for hemophilic patients.
Methods : An intervention study was conducted over twelve weeks for patients aged 16 to 60 years, inclusive. Exercise guidance to assist in the improvement of their knee function was provided to the patients. Using questionnaires and assessments of physical function, we measured the physical condition of the patients before and after HE. Guidance about the strengthening of knee extensor muscles, static stretching of knee flexor muscles and standing balance training, as well as advice for the promotion of physical activities, was provided on an individualized basis. Muscle force and range of motion of the knee, modified Functional Reach (mFRT), 10 meter walking time, and 3 minute gait distance were all measured. All patients were surveyed for bleeding frequency, activities of daily living (ADL), and health related quality of life (HRQOL : SF-36), respectively.
Results : Twenty-two patients with an average age of 37.2 years, were included in the analysis, with 86.4% of them having a history of severe of hemophilia (coagulation factor level <0.01 IU mL−1). There were significant improvements in strength of knee extensor and range of extension of the knees, mFRT, 10 meter gait time, 3 minute gait distance, ADL, and physical function of SF 36. There was a significant correlation between Ex for locomotive activities and change of 3 minute gait distance. No increase in bleeding frequency was noted.
Conclusion : HE for hemophilic patients is useful for the improvement of muscle force and range extension of the knees, mFRT, gait speed, and ADL. Individualised guidance for improvement of physical activities and knee function is necessary for improvement of overall physical function.