Background: The COVID-19 pandemic forced reorganization of the multidisciplinary healthcare system for Duchenne muscular dystrophy. Digital solutions seem to be optimal for providing rehabilitation at this time. The aim of this study was to investigate whether it is possible to conduct respiratory physical therapy with the use of telerehabilitation in Duchenne muscular dystrophy. Methods: The study was conducted during an online conference for families with DMD. During the physical therapy panel we showed the video with the instructions of respiratory exercises. All participants (n = 152) were asked to fill in the online survey evaluating the quality, acceptance, and understanding of the instructions. Results: The survey was filled in by 45 (29.6%) participants. The mean rating of satisfaction was 4.70/5, and for intelligibility was 4.78/5. Thirty-seven (82.2%) patients declared that they had performed the exercises, all caregivers declared that it was possible to perform the proposed exercises a few times a week or daily, and only two respondents replied to invitations to individual online sessions. Conclusions: Findings from the study show that respiratory telerehabilitation may be implemented for DMD patients; however, the interest in digital rehabilitation among caregivers of DMD boys in Poland is low. The reasons for this situation require further research.

Background/Objectives: Joubert syndrome is a rare neurodevelopmental disorder characterized by congenital cerebellar and brainstem malformations affecting networks involved in predictive motor control, sensorimotor integration, and autonomic regulation, resulting in a heterogeneous motor phenotype. Functional impairment is typically described using global gross motor scores, which may not adequately reflect axial control, postural organization, musculoskeletal alignment, or respiratory–postural interactions. The objective of this descriptive pilot case series was to provide a multidimensional functional characterization of children with Joubert syndrome by integrating standardized motor assessments with postural, musculoskeletal, and thoracoabdominal measures. Methods: Six children with genetically and radiologically confirmed Joubert syndrome underwent a single standardized assessment session conducted by the same examiner. This cross-sectional, non-controlled study was based on feasibility sampling, and no a priori power calculation was performed. Gross motor function and postural control were evaluated using the Gross Motor Function Measure-88 and the Balance Assessment Rating Scale. Additional measures included joint range of motion, sacral inclination angle, thoracic configuration, thoracic excursion during quiet breathing, and respiratory rate. Analyses were limited to descriptive statistics. Results: Gross motor performance varied widely across participants, whereas postural control scores did not parallel gross motor performance levels within the cohort. Inter-individual variability was observed in joint mobility, pelvic alignment, and thoracoabdominal configuration, including among children with relatively preserved gross motor scores. Thoracic excursion during quiet breathing demonstrated a relatively narrow and low within-cohort range. Conclusions: In this small exploratory case series, functional characteristics observed in this cohort extended beyond global motor scores. Axial control, postural organization, and thoracoabdominal configuration may represent relevant descriptive domains of functional presentation within a multidimensional framework. Larger, longitudinal, and controlled studies are required to determine their clinical and neurodevelopmental significance.

Background: Joubert syndrome (JS) is a rare ciliopathy characterized by cerebellar and brainstem malformations and the molar tooth sign on magnetic resonance imaging. Motor impairment is primarily driven by axial hypotonia, impaired postural control, and disrupted respiratory-postural integration. Longitudinal reports describing structured neurorehabilitation with standardized functional outcomes remain limited. Case presentation: We report a female child with prenatally suspected vermian hypoplasia and postnatally MRI-confirmed Joubert syndrome. Subsequent molecular testing performed at the age of 3 years and 11 months identified heterozygous variants in the B9D2 gene associated with Joubert syndrome. Early development was marked by axial hypotonia, global motor delay, impaired trunk stabilization, sleep-disordered breathing, and early hip migration. At 2.5 years of age, following motor plateau under conventional therapy, a structured 12-month rehabilitation programme was introduced, combining Vojta-based reflex locomotion, respiratory therapy targeting thoraco-diaphragmatic synchronization, daily home-based practice, and supported standing. Results: After 12 months, gross motor function improved substantially, with GMFM-88 increasing from 12% to 52% (+40 percentage points). PEDI scaled scores improved across all domains, with mobility increasing from 8 to 40, self-care from 15 to 45, and social function from 25 to 50. Ataxia severity decreased from 22 to 15 on the modified Brief Ataxia Rating Scale, consistent with improved trunk stability and coordination. Postural and respiratory organization improved, reflected by a reduction in the subcostal angle from 137° to 90°, an increase in sacral slope from 5° to 10°, and increased expiratory pressure from 10 to 25 mmHg. Caregiver-reported assessment combined with structured clinical observation indicated improved functional visual performance, including enhanced visual attention, visuomotor coordination, and environmental visual interaction. Conclusions: Structured neurorehabilitation was associated with substantial functional improvement across motor, postural, and respiratory domains. These findings support the clinical relevance of mechanism-oriented neurorehabilitation and standardized longitudinal outcome assessment in Joubert syndrome.

Background/Objectives: Joubert syndrome (JS) is a rare neurodevelopmental disorder characterized by cerebellar and brainstem malformations, resulting in a complex and heterogeneous motor phenotype. Despite increasing clinical recognition, functional assessment and physiotherapy strategies in this population remain insufficiently characterized. This study aimed to synthesize current rehabilitation evidence and to propose a conceptual framework for functional motor assessment in children with JS. Methods: A structured narrative review was conducted across PubMed, Scopus, Web of Science, EBSCOhost, the Cochrane Library, and PEDro databases, including studies published between 2000 and 2026. Eligible studies involved pediatric patients (0–18 years) with JS and reported physiotherapy or motor-related outcomes. Data were synthesized descriptively, and recurring functional domains were identified to inform the development of a conceptual framework. Results: Ten studies (eight case reports and two case series) were included. Rehabilitation approaches were heterogeneous and predominantly multidisciplinary, focusing on postural control, trunk stability, and motor milestone acquisition. Functional improvements were reported across studies; however, outcome measures were primarily based on generic pediatric tools such as GMFM-88 and WeeFIM. These tools did not fully capture the multidimensional nature of motor impairment, particularly in relation to regulatory and sensorimotor domains. Evidence also suggested that postural control and gross motor performance may not fully correspond, highlighting additional functional components such as axial control and thoracoabdominal organization. Given the absence of formal risk-of-bias assessment and the low methodological quality of included studies, all findings should be interpreted as exploratory. Conclusions: Current functional assessment in JS may not adequately reflect the interaction between regulatory processes, sensorimotor integration, and motor control. The proposed conceptual framework provides a multidimensional, hypothesis-generating perspective that may support clinical reasoning and physiotherapy planning. Further research is required to validate this framework and to develop more sensitive, syndrome-specific assessment tools.

Background/Objectives: Breathing is increasingly recognized as an integral component of the motor system, interacting with postural control and movement. Despite this, clinical assessment of respiratory function in children remains largely limited to physiological parameters, with relatively few tools available to evaluate breathing as an organized motor pattern. The aim of this study was to develop and preliminarily validate the Breath Motor Pattern Index (BMPI), an observational tool designed to assess the organization of respiratory motor patterns in children. Methods: A scoping review was conducted to identify key components of respiratory motor pattern organization. Based on these findings, the BMPI was developed and evaluated in a cohort of 210 children aged 0–72 months, divided into three groups: healthy controls, children with neurological conditions, and children with respiratory disorders. Inter-rater and test–retest reliability was assessed using intraclass correlation coefficients (ICC). Measurement error was quantified using the standard error of measurement (SEM) and minimal detectable change (MDC95). Construct-related validity was examined through correlations with the Gross Motor Function Measure (GMFM-88) and comparisons between clinical groups. Results: The BMPI showed high inter-rater reliability (ICC = 0.998) and test–retest reliability (ICC = 0.999), with low measurement error (SEM = 0.55; MDC95 = 1.53). A weak but statistically significant correlation with GMFM-88 was observed (rho = 0.23, p < 0.001). BMPI scores differed significantly between groups (p < 0.001), with lower values observed in the neurological group and higher values in the pulmonary group. Conclusions: The BMPI appears to be a promising observational tool with potential clinical applicability for assessing respiratory motor pattern organization in children. The findings support the conceptualization of breathing as an integrated component of the motor system while highlighting the need for further psychometric and longitudinal validation studies. Future research should further investigate the responsiveness of the BMPI as well as its potential utility in clinical decision-making and therapeutic monitoring.