Do children with neurological disabilities use more inpatient resources: an observational study.

BACKGROUND: Advances in healthcare have improved the survival of children with neurological disabilities (ND). Studies in the US have shown that children with ND use a substantial proportion of resources in children's hospitals, however, little research has been conducted in the UK. We aimed to test the hypothesis that children with neurological disabilities use more inpatient resources than children without neurological disabilities, and to quantify any significant differences in resource use. METHODS: A retrospective observational study was conducted, looking at the number of hospital admissions, total inpatient days and the reason for admissions for paediatric inpatients from January 1st to March 31st 2015. Inpatients were assigned into one of three groups: children without ND, children with one ND, and children with more than one ND. RESULTS: The sample population included 942 inpatients (mean age 6y 6mo). Children with at least one ND accounted for 15.3% of the inpatients, 17.7% of total hospital inpatient admission episodes, and 27.8% of the total inpatients days. Neurological disability had a statistically significant effect on total hospital admissions (p < 0.001). Neurological disability also had a statistically significant effect on total inpatient days (p < 0.001). Neurological disability increased the length of inpatient stay across medicine, specialties, and surgery. CONCLUSIONS: Children with ND had more frequent hospital admission episode and longer inpatient stays. We identified a smaller group within this population, with arguably more complex neurological disabilities, children with more than one ND. This group had the highest number of admissions and longest inpatient stays. More frequent hospital admissions and longer inpatient stays may place children with ND at greater risk of the adverse effects of hospitalisations. We recommend further investigations looking at each the effects of the different categories of ND on inpatient resource use, and repeat of this study at a national level and over a longer period of time.

Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy.

OBJECTIVE: To expand the clinical phenotype of autosomal dominant congenital spinal muscular atrophy with lower extremity predominance (SMA-LED) due to mutations in the dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1) gene. METHODS: Patients with a phenotype suggestive of a motor, non-length-dependent neuronopathy predominantly affecting the lower limbs were identified at participating neuromuscular centers and referred for targeted sequencing of DYNC1H1. RESULTS: We report a cohort of 30 cases of SMA-LED from 16 families, carrying mutations in the tail and motor domains of DYNC1H1, including 10 novel mutations. These patients are characterized by congenital or childhood-onset lower limb wasting and weakness frequently associated with cognitive impairment. The clinical severity is variable, ranging from generalized arthrogryposis and inability to ambulate to exclusive and mild lower limb weakness. In many individuals with cognitive impairment (9/30 had cognitive impairment) who underwent brain MRI, there was an underlying structural malformation resulting in polymicrogyric appearance. The lower limb muscle MRI shows a distinctive pattern suggestive of denervation characterized by sparing and relative hypertrophy of the adductor longus and semitendinosus muscles at the thigh level, and diffuse involvement with relative sparing of the anterior-medial muscles at the calf level. Proximal muscle histopathology did not always show classic neurogenic features. CONCLUSION: Our report expands the clinical spectrum of DYNC1H1-related SMA-LED to include generalized arthrogryposis. In addition, we report that the neurogenic peripheral pathology and the CNS neuronal migration defects are often associated, reinforcing the importance of DYNC1H1 in both central and peripheral neuronal functions.

Effects of respiratory timing and cheek support on resistance measurements, before and after bronchodilation in asthmatic children using the interrupter technique.

The interrupter technique (Rint) is a noninvasive method for assessing respiratory resistance. The aims of this study were to assess whether upper airway support affects the measurement of Rint, if inspiratory or expiratory Rint were most reproducible, and which method of assessing Rint correlated best with spirometry results and was the most sensitive for identifying bronchodilator response. Twenty-four asthmatic children with a mean age of 10.3 years (range, 7-16 years) were included in the study. Rint measurements were obtained in inspiration and expiration with cheeks supported and unsupported. Spirometry was then performed. Rint and spirometry measurements were repeated after the inhalation of 600 mcg of salbutamol. The mean Rint supported inspiratory (0.708 KPa/l/sec) and expiratory (0.729 KPa/l/sec) values were significantly higher than the unsupported values (inspiratory, 0.622 KPa/l/sec; expiratory, 0.584 KPa/l/sec), P < 0.05 and P < 0.001, respectively. The reproducibility of Rint was not different whether cheeks were supported or not, or whether the measurements were carried out during inspiration or expiration. Cheek support improved the correlation with all the lung function results, both in inspiratory and expiratory measurements. The best correlations, however, were found for the inspiratory supported Rint results. The most sensitive method to ascertain bronchodilator response (BD) was the inspiratory supported Rint measurement, as 83.3% of children were identified as having a positive response to bronchodilator therapy as defined by a reduction of twice the coefficient of variation of the measurement. In conclusion, cheek support increases Rint but does not impact on reproducibility, though it improves the correlation with spirometric indices. Rint with cheek support on inspiration correlates best with spirometric indices and appears to be the most sensitive measure of response to bronchodilators.

Exhaled nitric oxide measurements in childhood asthma: comparison of two sampling techniques.

Nitric oxide (NO) is being increasingly used to assess airway inflammation in childhood. The method recommended by the American Thoracic Society workshop is for a prolonged expiration against a resistance. However, this is very difficult to apply in young children. As a result there have been a number of studies in which mixed expired gas has been collected and analyzed for NO content as this requires very little cooperation. This method has, however, yet to be fully validated. The aims of this study were to compare the two sampling techniques of exhaled NO concentrations in asthmatic and healthy children and to assess the correlation between NO levels and spirometry values in asthmatic children We studied 25 control children, mean age 11.5 y, and 20 asthmatics, mean age 12 y. The exhaled NO was sampled using both the single breath technique (SB) and by measuring the NO content in mixed expired air after 1 min tidal breathing (ME). Forced expiratory volume in 1 s (FEV(1)) and expiratory flow rates at 25%, 50%, and 75% of vital capacity (FEF(25), FEF(50), FEF(75), respectively) were measured by compact II spirometer (best of three) in the 20 asthmatic children. The NO level was significantly higher in the asthmatics versus the control children when measured by SB (p = 0.0015) but not when measured by ME (p = 0.1913). The NO results measured by SB were significantly higher than ME results in the asthmatic children (p = 0.008). The NO levels were negatively correlated to FEV(1), FEF(25), FEF(50), and FEV(75) when measured by SB (p < 0.02) but not when measured by ME. The SB but not the ME method for measuring expired NO discriminates between asthmatic and control children and correlates well with the degree of airway obstruction. The use of the ME technique remains unproven.