Assessing the psychometric properties of quality of life measures in individuals with amyotrophic lateral sclerosis: a systematic review.

PURPOSE: Amyotrophic lateral sclerosis (ALS) is the most common motor neuron disease in adults. There are many patient-reported outcome measures (PROMs) for measuring quality of life (QoL) and health-related QoL (HRQoL) within this population; however, there is limited consensus regarding which are most valid, reliable, responsive, and interpretable. This systematic review assesses the psychometric properties and interpretability of QoL and HRQoL PROMs for individuals with ALS. METHODS: This review was conducted following the Consensus-based Standards for the selection of health Measurement Instruments (COSMIN) methodology for systematic reviews of PROMs. MEDLINE, EMBASE, and CINAHL databases were searched. Studies were included if their aim was to evaluate one or more psychometric properties or the interpretability of QoL or HRQoL PROMs in individuals with ALS. RESULTS: We screened 2713 abstracts, reviewed 60 full-text articles, and included 37 articles. Fifteen PROMs were evaluated including generic HRQoL (e.g., SF-36), ALS-specific HRQoL (e.g., ALSAQ-40), and individualized QoL (e.g., SEIQoL) measures. Evidence for internal consistency and test-retest reliability were acceptable. For convergent validity, 84% of hypotheses were met. For known-groups validity, outcomes were able to distinguish between healthy cohorts and other conditions. Responsiveness results ranged from low to high correlations with other measures over 3-24 months. Evidence for content validity, structural validity, measurement error, and divergent validity was limited. CONCLUSION: This review identified evidence in support of the ALSAQ-40 or ALSAQ-5 for individuals with ALS. These findings can guide healthcare practitioners when selecting evidence-based QoL and HRQoL PROMs for patients and provide researchers with insight into gaps in the literature.

The Sphincter of O'Beirne-Part 2: Report of a Case of Chronic Constipation with Autonomous Dyssynergia.

BACKGROUND: Chronic constipation can have one or more of many etiologies, and a diagnosis based on symptoms is not sufficient as a basis for treatment, in particular surgery. AIM: To investigate the cause of chronic constipation in a patient with complete absence of spontaneous bowel movements. METHODS: High-resolution colonic manometry was performed to assess motor functions of the colon, rectum, the sphincter of O'Beirne and the anal sphincters. RESULTS: Normal colonic motor patterns were observed, even at baseline, but a prominent high-pressure zone at the rectosigmoid junction, the sphincter of O'Beirne, was consistently present. In response to high-amplitude propagating pressure waves (HAPWs) that were not consciously perceived, the sphincter and the anal sphincters would not relax and paradoxically contract, identified as autonomous dyssynergia. Rectal bisacodyl evoked marked HAPW activity with complete relaxation of the sphincter of O'Beirne and the anal sphincters, indicating that all neural pathways to generate the coloanal reflex were intact but had low sensitivity to physiological stimuli. A retrograde propagating cyclic motor pattern initiated at the sphincter of O'Beirne, likely contributing to failure of content to move into the rectum. CONCLUSIONS: Chronic constipation without the presence of spontaneous bowel movements can be associated with normal colonic motor patterns but a highly exaggerated pressure at the rectosigmoid junction: the sphincter of O'Beirne, and failure of this sphincter and the anal sphincters to relax associated with propulsive motor patterns. The sphincter of O'Beirne can be an important part of the pathophysiology of chronic constipation.

Noradrenaline inhibits neurogenic propulsive motor patterns but not neurogenic segmenting haustral progression in the rabbit colon.

BACKGROUND: Excessive sympathetic inhibition may be a cause of colon motor dysfunction. Our aim was to better understand the mechanisms of sympathetic inhibition on colonic motor patterns using the rabbit colon, hypothesizing that noradrenaline selectively inhibits propulsive motor patterns. METHODS: Changes in motor patterns of the rabbit colon were studied ex vivo using noradrenaline and adrenoceptor antagonists and analyzed using spatiotemporal diameter maps. KEY RESULTS: Noradrenaline abolished propulsive contractions: it abolished the long-distance contractions (LDCs) from a baseline frequency of 0.8 ± 0.3 and the clusters of fast propagating contractions (FPCs) at a frequency of 14.4 ± 2.8 cpm. Both motor patterns recovered after addition of the α2 -adrenoceptor antagonist yohimbine to a frequency of 0.5 ± 0.2  and 9.9 ± 3.3 cpm, respectively. The ß-adrenoceptor antagonist propranolol did not prevent the loss of propulsive motor patterns with noradrenaline. Noradrenaline did not inhibit haustral boundary contractions and increased the frequency of the myogenic ripples from 8.3 ± 1.4 to 10.5 ± 1.3 cpm which was not affected by yohimbine, propranolol nor the α1 -adrenoceptor blocker prazosin. CONCLUSIONS AND INFERENCES: Noradrenergic inhibition of propulsive motor patterns is mediated by the α2 -adrenoceptor to inhibit the neurogenic LDCs and the neurogenic clustering of FPCs. The neurogenic haustral boundary contractions are not affected, suggesting that α2- receptors are on selective neural circuits. The excitatory effect of noradrenaline on ripples may be due to the activation of adrenoceptors on interstitial cells of Cajal, but action on α1- receptors was excluded. No role for the ß-adrenoceptor was found.