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Background The European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC) was launched to register rare muscle glycogenoses in Europe, to facilitate recruitment for research trials and to learn about the phenotypes and disseminate knowledge about the diseases through workshops and websites. A network of twenty full and collaborating partners from eight European countries and the US contributed data on rare muscle glycogenosis in the EUROMAC registry. After approximately 3 years of data collection, the data in the registry was analysed. Results Of 282 patients with confirmed diagnoses of muscle glycogenosis, 269 had McArdle disease. New phenotypic features of McArdle disease were suggested, including a higher frequency (51.4%) of fixed weakness than reported before, normal CK values in a minority of patients (6.8%), ptosis in 8 patients, body mass index above background population and number of comorbidities with a higher frequency than in the background population (hypothyroidism, coronary heart disease). Conclusions The EUROMAC project and registry have provided insight into new phenotypic features of McArdle disease and the variety of co-comorbidities affecting people with McArdle disease. This should lead to better management of these disorders in the future, including controlling weight, and preventive screening for thyroid and coronary artery diseases, as well as physical examination with attention on occurrence of ptosis and fixed muscle weakness. Normal serum creatine kinase in a minority of patients stresses the need to not discard a diagnosis of McArdle disease even though creatine kinase is normal and episodes of myoglobinuria are absent.

The abilities of infants to perceive basic acoustic differences, essential for language development, can be studied using auditory event-related potentials (ERPs). However, scalp-channel averaged ERPs sum volume-conducted contributions from many cortical areas, reducing the functional specificity and interpretability of channel-based ERP measures. This study represents the first attempt to investigate rapid auditory processing in infancy using independent component analysis (ICA), allowing exploration of source-resolved ERP dynamics and identification of ERP cortical generators. Here, we recorded 60-channel EEG data in 34 typically developing 6-month-old infants during a passive acoustic oddball paradigm presenting ‘standard’ tones interspersed with frequency-or duration-deviant tones. ICA decomposition was applied to single-subject EEG data. The best-fitting equivalent dipole or bilaterally symmetric dipole pair was then estimated for each resulting independent component (IC) process using a four-layer infant head model. Similar brain-source ICs were clustered across subjects. Results showed ERP contributions from auditory cortex and multiple extra-auditory cortical areas (often, bilaterally paired). Different cortical source combinations contributed to the frequency- and duration-deviant ERP peak sequences. For ICs in an ERP-dominant source cluster located in or near the mid-cingulate cortex, source-resolved frequency-deviant response N2 latency and P3 amplitude at 6 months-of-age predicted vocabulary size at 20 months-of-age. The same measures for scalp channel F6 (though not for other frontal channels) showed similar but weaker correlations. These results demonstrate the significant potential of ICA analyses to facilitate a deeper understanding of the neural substrates of infant sensory processing.

Objective. The minimum clinically important difference (MCID) is a standard way of measuring clinical relevance. The objective of this work was to establish the MCID for the 6-minute walking test (6minWT) and the Gross Motor Function Measure (GMFM-88) in pediatric gait disorders. Methods. A cohort, pretest-posttest study was conducted in a hospitalized care setting. A total of 182 patients with acquired brain injury (ABI) or cerebral palsy (CP) performed 20 robot-assisted gait training sessions complemented with 20 sessions of physical therapy over 4 weeks. Separate MCIDs were calculated using 5 distribution-based approaches, complemented with an anonymized survey completed by clinical professionals. Results. The MCID range for the 6minWT was 20-38 m in the ABI cohort, with subgroup ranges of 20-36 m for GMFCS I-II, 23-46 m for GMFCS III, and 24-46 m for GMFCS IV. MCIDs for the CP population were 6-23 m, with subgroup ranges of 4-28 m for GMFCS I-II, 9-19 m for GMFCS III, and 10-27 m for GMFCS IV. For GMFM-88 total score, MCID values were 1.1%-5.3% for the ABI cohort and 0.1%-3.0% for the CP population. For dimension “D” of the GMFM, MCID ranges were 2.3%-6.5% and 0.8%-5.2% for ABI and CP populations, respectively. For dimension “E,” MCID ranges were 2.8%-6.5% and 0.3%-4.9% for ABI and CP cohorts, respectively. The survey showed a large interquartile range, but the results well mimicked the distribution-based methods. Conclusions. This study identified for the first time MCID ranges for 6minWT and GMFM-88 in pediatric patients with neurological impairments, offering useful insights for clinicians to evaluate the impact of treatments. Distribution-based methods should be used with caution: methods based on pre-post correlation may underestimate MCID when applied to patients with small improvements over the treatment period. Our results should be complemented with estimates obtained using consensus- and anchor-based approaches.

Wearable sensors are becoming increasingly popular for complementing classical clinical assessments of gait deficits. The aim of this review is to examine the existing knowledge by systematically reviewing a large number of papers focusing on the use of wearable inertial sensors for the assessment of gait during the 6-minute walk test (6MWT), a widely recognized, simple, non-invasive, low-cost and reproducible exercise test. After a systematic search on PubMed and Scopus databases, two raters evaluated the quality of 28 full-text articles. Then, the available knowledge was summarized regarding study design, subjects enrolled (number of patients and pathological condition, if any, age, male/female ratio), sensor characteristics (type, number, sampling frequency, range) and body placement, 6MWT protocol and extracted parameters. Results were critically discussed to suggest future directions for the use of inertial sensor devices in the clinics.