Pain in Spinal Muscular Atrophy: A Questionnaire Study.

OBJECTIVE: This study aimed to reveal the chronic pain prevalence in spinal muscular atrophy (SMA) patients and identify the clinical characteristics of these patients with chronic pain. The pain status was also investigated in SMA patients with chronic pain. METHODS: This cross-sectional study was conducted between July 2018 and December 2018. SMA type II and type III patients in Japan were mailed a survey questionnaire. The survey items were chronic pain prevalence, clinical characteristics, and motor function. Patients with chronic pain also answered questions on various pain status parameters: pain intensity, frequency, duration, location using body map, and factors that exacerbated and relieved pain. RESULTS: The questionnaire recovery rate was 61.1%. Sixty-four type II (mean age 17.3 ± 11.7 years) and 22 type III (mean age 44.9 ± 21.6 years) patients were eligible for inclusion. The prevalence of chronic pain in type II and III patients was 40.6% and 40.9%, respectively. Type II patients with chronic pain were more likely to report the inability to sit without manual support than those without pain (p = 0.03). Pain intensity in SMA patients was mild, but pain usually occurred daily, for prolonged durations, most often in the neck, back, and lower extremities. Sitting and high physical activity exacerbated pain the most. CONCLUSION: The percentage of patients with SMA with chronic pain was high, at above 40%. Moreover, the pain experienced by patients with SMA was low in intensity but frequent and most common in the lower extremities.

Cybernic treatment with wearable cyborg Hybrid Assistive Limb (HAL) improves ambulatory function in patients with slowly progressive rare neuromuscular diseases: a multicentre, randomised, controlled crossover trial for efficacy and safety (NCY-3001).

BACKGROUND: Rare neuromuscular diseases such as spinal muscular atrophy, spinal bulbar muscular atrophy, muscular dystrophy, Charcot-Marie-Tooth disease, distal myopathy, sporadic inclusion body myositis, congenital myopathy, and amyotrophic lateral sclerosis lead to incurable amyotrophy and consequent loss of ambulation. Thus far, no therapeutic approaches have been successful in recovering the ambulatory ability. Thus, the aim of this trial was to evaluate the efficacy and safety of cybernic treatment with a wearable cyborg Hybrid Assistive Limb (HAL, Lower Limb Type) in improving the ambulatory function in those patients. RESULTS: We conducted an open-label, randomised, controlled crossover trial to test HAL at nine hospitals between March 6, 2013 and August 8, 2014. Eligible patients were older than 18 years and had a diagnosis of neuromuscular disease as specified above. They were unable to walk for 10 m independently and had neither respiratory failure nor rapid deterioration in gait. The primary endpoint was the distance passed during a two-minute walk test (2MWT). The secondary endpoints were walking speed, cadence, and step length during the 10-m walk test (10MWT), muscle strength by manual muscle testing (MMT), and a series of functional measures. Adverse events and failures/problems/errors with HAL were also evaluated. Thirty patients were randomly assigned to groups A or B, with each group of 15 receiving both treatments in a crossover design. The efficacy of a 40-min walking program performed nine times was compared between HAL plus a hoist and a hoist only. The final analysis included 13 and 11 patients in groups A and B, respectively. Cybernic treatment with HAL resulted in a 10.066% significantly improved distance in 2MWT (95% confidence interval, 0.667-19.464; p = 0.0369) compared with the hoist only treatment. Among the secondary endpoints, the total scores of MMT and cadence at 10MWT were the only ones that showed significant improvement. The only adverse effects were slight to mild myalgia, back pain, and contact skin troubles, which were easily remedied. CONCLUSIONS: HAL is a new treatment device for walking exercise, proven to be more effective than the conventional method in patients with incurable neuromuscular diseases. TRIAL REGISTRATION: JMACTR, JMA-IIA00156.

Walking Attainment in Very Low Birth Weight Infants in Japan.

OBJECTIVE: To clarify the corrected age of walking attainment in very low birth weight infants by birth weight and gestational age, and determine perinatal factors affecting the delay in walking attainment. METHOD: This was a longitudinal study. We investigated walking attainment and perinatal factors in 145 very low birth weight infants without neurological abnormalities (mean birth weight 1019.3 ± 299.7 g, gestational age 29.0 ± 2.9 weeks). The study infants were stratified by birth weight (group A: <1,000 g, group B: 1,000 g≤, <1,500 g) and gestational age (group I: <28 weeks, group II: 28 weeks≤, <37 weeks) and were compared using unpaired t-tests. Furthermore, we examined the perinatal factors that affect the delay in walking attainment using multiple regression analysis. RESULTS: Of the walking attainment, infants in Group A were older than those in Group B (50th percentile, 15.8 vs. 14.7 months). Infants in Group I were older than those in Group II (50th percentile, 16.0 vs. 14.8 months). Using multiple regression analysis with walking attainment age as the dependent variable, the duration of mechanical ventilation was found to be significantly related. CONCLUSION: Very low birth weight infants with light weight and short gestational age have delayed walking attainment, and longer duration of mechanical ventilation increases the risk of delay.

Effects of continued positioning pillow use until a corrected age of six months on cranial deformation and neurodevelopment in preterm infants: A prospective case-control study.

BACKGROUND: Preterm infants have a high risk of cranial deformity resulting from external pressures. Such deformity is associated with delayed neurodevelopment. AIMS: We aimed to clarify the effects of continuous use of positioning pillows on cranial deformity and neurodevelopment in preterm infants. METHODS: This prospective case-control study was conducted between November 2018 and August 2019. The continuous use of a pillow was initiated after discharge from the neonatal intensive care unit, up to a corrected age of six months. Preterm infants weighing less than 1800 g without neurological abnormalities were included in the study. Patients were divided into two groups: non-pillow group (NP-group) and pillow group (P-group). The primary outcome was the Bayley Scales of Infant Development III (BSID-III) score. We compared asymmetrical cranial deformity and the BSID-III scores in the two groups at a corrected age of six months using the Fisher's exact test and unpaired t-test, respectively. RESULTS: There were 19 preterm infants (mean gestational age 32.5 ± 1.9 weeks, birth weight 1461.3 ± 244.7) eligible during the study period. The P-group (n = 11) showed asymmetrical cranial deformity at six months less frequently than the NP-group (n = 8) (p = 0.001, Fisher's exact test). Infants in the P-group had significantly higher scores on the BSID-III cognitive scales (95.0 ± 8.4 vs. 86.9 ± 2.6; p = 0.02, unpaired t-test) and fine motor scores on the motor scales (8.6 ± 2.2 vs. 6.6 ± 0.7, p = 0.02, unpaired t-test). CONCLUSIONS: Continuous pillow use in preterm infants is effective in reducing cranial deformity and improved cognitive and fine motor skills. TRIAL REGISTRATION: UMIN Clinical Trials Registry, trial no. UMIN000034400 (http://www.umin.ac.jp/ctr/index.htm).

A short form of gross motor function measure for Fukuyama congenital muscular dystrophy.

OBJECTIVES: The objective of this study was to confirm the validity of a short form of gross motor function measure for Fukuyama congenital muscular dystrophy (GMFM for FCMD). METHODS: This study is a case series and was conducted at the Tokyo Women's Medical University. Fifteen patients with FCMD were assessed using both the GMFM for FCMD with 68 items, which was created as a motor function measure for patients with FCMD on the basis of Rasch analysis, and the original GMFM with 88 items. The correlation between the GMFM for FCMD and the Ueda classification was assessed. Time required for each assessment was also evaluated. RESULTS: We found significant correlation between the GMFM for FCMD and the Ueda classification (r = 0.935); furthermore, the mean assessment time tended to decrease when using the GMFM for FCMD. CONCLUSIONS: GMFM for FCMD may be an appropriate motor function scale for patients with FCMD and might help decrease the assessment time.

The gross motor function measure is valid for Fukuyama congenital muscular dystrophy.

Fukuyama congenital muscular dystrophy (FCMD) is the second most common muscular dystrophy in Japan. FCMD is an autosomal recessive disorder caused by mutations in the fukutin gene. The main features of FCMD are a combination of infantile-onset hypotonia, generalized muscle weakness, eye abnormalities, and mental retardation associated with cortical migration defects, and most patients are never able to walk. To date, the development of a quantitative motor scale for FMCD has been difficult due to the moderate-to-severe intellectual impairment that accompanies FCMD. Gross motor function measure (GMFM), originally developed as a quantitative motor scale for cerebral palsy, can precisely and quantitatively assess motor function without complicated instructions, and was recently reported to be useful in the assessment of Down syndrome and spinal muscular atrophy. To confirm the validity of GMFM for the assessment of FCMD, 41 FCMD patients (age range: 0.6-24.4 years) were recruited for this study. The GMFM scores correlated significantly with those of two previously used motor scales, and the time-dependent change in GMFM scores was consistent with the natural course of FCMD. The inter-rater reliability, based on determinations made by four physiotherapists blinded to each other's assessment results, was excellent. We concluded GMFM to be a useful and valid measure of motor function in FCMD patients.

Incidence of falls and fear of falling in Japanese patients with rheumatoid arthritis.

The objective of this study is to determine the incidence of falls and fear of falling by gender and age in Japanese patients with rheumatoid arthritis (RA). Among the Japanese patients who participated in a single-institute-based prospective observational cohort study of patients with RA, namely the Institute of Rheumatology Rheumatoid Arthritis, 765 men (median age 63 years) and 4,231 women (median age 60 years) with RA responded to questions related to falls. Eight percent of men and 11% of women reported one or more falls during the previous 6 months. At least one fall and multiple falls were significantly more frequent in men (p < 0.05) and in women (p < 0.001) with RA over age 65 and age 75 years, respectively, although there was no significant linear increase in risk with age. Sixteen percent of men and 22% of women reported fear of falling. More men over age 65 tended to report fear of falling than those under age 65 (p < 0.001), although the incidence of women with fear of falling increased with advancing age. Japanese patients with RA over age 65 and age 75 appeared to have a high risk of at least one fall and multiple falls, respectively.

Associated factors for falls and fear of falling in Japanese patients with rheumatoid arthritis.

The objective of this is to determine factors associated with falls in Japanese patients with rheumatoid arthritis (RA). Among the patients who participated in a single-institute-based prospective observational cohort study of patients with RA, namely, Institute of Rheumatology Rheumatoid Arthritis, 4,996 (male 765, female 4231, median age 60 years) responded to questions related to falls during the previous 6 months in April or May 2008. Logistic regression was used to determine the association between variables and falls. Five hundred and five (10.1%), 110 (2.2%), and 958 patients (19.2%) reported at least one fall, multiple falls, and fear of falling, respectively. Those who fell tended to report incident fractures during the same 6 months compared to those who did not (14.7% versus 1.1%, P < 0.001). In multivariate models, Japanese health assessment questionnaire (HAQ) scores (odds ratios (OR) 1.52, 2.49, and 3.88), tender joint counts (OR 1.39, 1.72, and 1.36), patient-reported visual analog scale for general health (OR 1.08, 1.16, and 1.20), and body mass index (OR 1.05, 1.08, and 1.04) were associated (P < 0.05) with at least one fall, multiple falls, and fear of falling, respectively. Other clinical variables and medications were also associated with falls and fear of falling. HAQ disability score, tender joint counts, and impaired general health appear to be associated with falls in Japanese patients with RA, as previously reported for patients of other ethnicities.

Dynamic postural control in patients with hemiparesis.

OBJECTIVE: Decreased postural stability is a common problem associated with hemiparesis secondary to stroke. The purpose of this study was to evaluate dynamic postural control in patients with hemiparesis and in normal subjects matched for age. DESIGN: Quantitative posturography (EquiTest System) was performed to assess the response of subjects to sudden perturbations. A total of 59 patients with hemiparesis and 98 healthy volunteers were evaluated. All the patients were able to walk inside their house without lower limb orthoses. Both the patients and the healthy volunteers were subjected to forward and backward perturbations while standing on a movable force platform. Balance responses were analyzed in terms of weight symmetry, latency, amplitude (relative response strength), and strength symmetry. They were also subjected to toes-up and toes-down perturbations to evaluate their response to a disruptive balance force. RESULTS: The response latency to perturbations was longer and the response strength was weaker on the paretic side of patients with hemiparesis. The dynamic postural control was impaired in patients with hemiparesis as compared with healthy subjects. CONCLUSION: The results suggest that patients with hemiparesis tend to fall easily and that the risk of falls toward the paretic side is high.