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Abstract Background Protein phosphatase 2 regulatory subunit B’ Delta (PPP2R5D)-related neurodevelopmental disorder is a rare genetic condition caused by pathogenic variants in the PPP2R5D gene. Clinical signs include hypotonia, gross motor delay, intellectual disability (ID), epilepsy, speech delays, and abnormal gait among other impairments. As this disorder was recognized within the last decade, there are only 103 people published diagnoses to date. A thorough understanding of the motor manifestations of this disorder has not yet been established. Knowledge of the natural history of PPP2R5D related neurodevelopmental disorder will lead to improved standard of care treatments as well as serve as a baseline foundation for future clinical trials. Appropriate outcome measures are necessary for use in clinical trials to uniformly measure function and monitor potential for change. The aim of this study was to validate the gross motor function measure (GMFM) in children and adults with PPP2R5D-related neurodevelopmental disorder in order to better characterize the disorder. Results Thirty-eight individuals with PPP2R5D pathogenic variants, median age 8.0 years (range 1–27) were evaluated. Gross motor, upper limb and ambulatory function were assessed using the GMFM-66, six-minute walk test (6MWT), 10-meter walk run (10MWR), timed up and go (TUG), and revised upper limb module (RULM). The pediatric disability inventory computer adapted test (PEDI-CAT) captured caregiver reported assessment. Median GMFM-66 score was 60.6 (SD = 17.3, range 21.1–96.0). There were strong associations between the GMFM-66 and related mobility measures, 10MWR (rs = −0.733; p < 0.001), TUG (rs= −0.747; p = 0.003), 6MWT (r = 0.633; p = 0.006), RULM (r = 0.763; p < 0.001), PEDICAT-mobility (r = 0.855; p < 0.001), and daily activities (r = 0.822; p < 0.001) domains. Conclusions The GMFM is a valid measure for characterizing motor function in individuals with PPP2R5D related neurodevelopmental disorder. The GMFM-66 had strong associations with the RULM and timed function tests which characterized gross motor, upper limb and ambulatory function demonstrating concurrent validity. The GMFM-66 was also able to differentiate between functional levels in PPP2R5D related neurodevelopmental disorder demonstrating discriminant validity. Future studies should examine its sensitivity to change over time, ability to identify sub-phenotypes, and suitability as an outcome measure in future clinical trials in individuals with PPP2R5D variants.

Every oral communication is shaped by a series of closely linked factors and rhythm is one of them. The rhythmical flow in colloquial Mandarin Chinese was thoroughly described by the Czech phonetician Oldřich Švarný, who invented a unique notation system dedicated to facilitating the teaching of Chinese as a foreign language. His prosodic transcription parses speech into a two-level arrangement of prosodic units. It displays the speech rhythm as an alternation of rhythmically significant and insignificant syllables of unequal tone prominence. The paper contributes to Švarný’s findings by shifting the attention from prefabricated teaching materials to an example of unrehearsed dynamic speech. Specifically, it attempts to outline the basic rhythmical features of personal narrative and confront them with the current understanding of speech rhythm in colloquial Chinese. It also demonstrates how Švarný’s methodological framework can be exploited to investigate different types of spoken discourse.

Measuring center-of-pressure (COP) trajectories in out-of-the-lab environments may provide valuable information about changes in gait and balance function related to natural disease progression or treatment in neurological disorders. Traditional equipment to acquire COP trajectories includes stationary force plates, instrumented treadmills, electronic walkways, and insoles featuring high-density force sensing arrays, all of which are expensive and not widely accessible. This study introduces novel deep recurrent neural networks that can accurately estimate dynamic COP trajectories by fusing data from affordable and heterogeneous insole-embedded sensors (namely, an eight-cell array of force sensitive resistors (FSRs) and an inertial measurement unit (IMU)). The method was validated against gold-standard equipment during out-of-the-lab ambulatory tasks that simulated real-world walking. Root-mean-square errors (RMSE) in the mediolateral (ML) and anteroposterior (AP) directions obtained from healthy individuals (ML: 0.51 cm, AP: 1.44 cm) and individuals with neuromuscular conditions (ML: 0.59 cm, AP: 1.53 cm) indicated technical validity. In individuals with neuromuscular conditions, COP-derived metrics showed significant correlations with validated clinical measures of ambulatory function and lower-extremity muscle strength, providing proof-of-concept evidence of the convergent validity of the proposed method for clinical applications.

Abstract Objective To estimate muscle oxygen uptake and quantify fatigue during exercise in ambulatory individuals with spinal muscular atrophy (SMA) and healthy controls. Methods Peak aerobic capacity (VO2peak) and workload (Wpeak) were measured by cardiopulmonary exercise test (CPET) in 19 ambulatory SMA patients and 16 healthy controls. Submaximal exercise (SME) at 40% Wpeak was performed for 10 minutes. Change in vastus lateralis deoxygenated hemoglobin, measured by near‐infrared spectroscopy, determined muscle oxygen uptake (ΔHHb) at rest and during CPET and SME. Dual energy X‐ray absorptiometry assessed fat‐free mass (FFM%). Fatigue was determined by percent change in workload or distance in the first compared to the last minute of SME (FatigueSME) and six‐minute walk test (Fatigue6MWT), respectively. Results ΔHHb‐PEAK, ΔHHb‐SME, VO2peak, Wpeak, FFM%, and 6MWT distance were lower (P

Background and purposeWith the availability and development of disease-modifying therapies for individuals with spinal muscular atrophy (SMA), new emerging phenotypes must be characterized, and potential new treatment paradigms tested. There is an urgent demand to develop an educational program that provides physical therapists (PTs) worldwide the necessary knowledge and training to contribute to best-practice care and clinical research. A competency based education framework is one that would focus on outcomes not process and where progression of learners would occur only after competencies are demonstrated. The first step toward such a framework is defining outcomes. The purpose of this Delphi study was to develop consensus on those competencies deemed essential within the SMA PT community.MethodsPurposive selection and snowball sampling techniques were used to recruit expert SMA PTs. Three web-based survey rounds were used to achieve consensus, defined as agreement among >80% of respondents. The first round gathered demographic information on participants as well as information on clarity and redundancy on a list of competencies; the second round, collected the same information on the revised list and whether or not participants agreed if the identified domains captured the essence of a SMA PT as well as the definitions for each; and the third asked participants to rank their agreement with each competency.ResultsConsensus revealed 35 competencies, organized under 6 domains, which were deemed essential for a PT working with persons with SMA.DiscussionIn order to develop a curriculum to meet the physical therapy needs of persons with SMA, it is imperative to establish defined outcomes and to achieve consensus on those outcomes within the SMA community.ConclusionsThis study identified essential competencies that will help to provide guidance in development of a formal education program to meet these defined outcomes. This can foster best-practice care and clinical decision-making for all PTs involved in the care of persons with SMA in a clinical and research setting.