{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,9]],"date-time":"2026-05-09T05:11:33Z","timestamp":1778303493113,"version":"3.51.4"},"reference-count":49,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2026,4,23]],"date-time":"2026-04-23T00:00:00Z","timestamp":1776902400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Background: Joubert syndrome (JS) is a rare neurodevelopmental ciliopathy characterized by cerebellar and brainstem malformation and heterogeneous motor outcomes. Although global developmental delay is well described, integrated clinical characterization combining functional and structural domains remains limited. The aim of this exploratory study was to describe a multidimensional motor phenotype in children with JS and to explore associations between selected functional and structural parameters. Methods: A prospective cross-sectional cohort study was conducted in 25 children with MRI-confirmed JS (aged 2\u201316 years). Gross motor performance was assessed using the GMFM-88, and postural control was evaluated with the modified Brief Ataxia Rating Scale (mBARS). Measured musculoskeletal parameters included joint range of motion and sacral slope as an indicator of sagittal pelvic alignment. Thoracoabdominal configuration was assessed using angular and anthropometric measurements. Associations between predefined functional and structural variables were explored using Spearman\u2019s rank correlation coefficients. Analyses were exploratory and hypothesis-generating and were not adjusted for multiple comparisons. Results: Marked inter-individual variability was observed across functional and structural domains. A moderate negative correlation was identified between GMFM-88 (Gross Motor Function Measure-88) and mBARS (modified Brief Ataxia Rating Scale) scores (\u03c1 = \u22120.512, p-value = 0.007). Sacral slope demonstrated statistically significant associations with hip extension, ankle dorsiflexion, chest and abdominal circumference, and sternoclavicular alignment (all p-value &lt; 0.05). No significant correlations were detected between gross motor performance and isolated structural parameters. Intra-rater reliability of selected measurements was high (ICC range 0.939\u20130.999). Conclusions: This exploratory, hypothesis-generating study demonstrates multidimensional variability in motor organization encompassing functional, postural, and structural domains. Gross motor performance appears more closely related to postural control than to isolated peripheral structural measures within this exploratory framework. Structural parameters exhibit internal statistical co-variation but do not independently determine functional capacity. These findings support the value of integrated multidomain physiotherapy assessment in rare cerebellar neurodevelopmental disorders.<\/jats:p>","DOI":"10.3390\/jcm15093221","type":"journal-article","created":{"date-parts":[[2026,4,23]],"date-time":"2026-04-23T17:04:59Z","timestamp":1776963899000},"page":"3221","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Multidimensional Motor Phenotype Characterization in Children with Joubert Syndrome: A Cross-Sectional Cohort Study"],"prefix":"10.3390","volume":"15","author":[{"given":"\u0141ukasz","family":"Ma\u0144ski","sequence":"first","affiliation":[{"name":"Gdansk Medical Academy of Applied Sciences, 80-335 Gdansk, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aleksandra","family":"Moluszys","sequence":"additional","affiliation":[{"name":"Gdansk Medical Academy of Applied Sciences, 80-335 Gdansk, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-4904-6165","authenticated-orcid":false,"given":"Anna","family":"G\u00f3ra","sequence":"additional","affiliation":[{"name":"Gdansk Medical Academy of Applied Sciences, 80-335 Gdansk, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5288-0586","authenticated-orcid":false,"given":"Eliza","family":"Wasilewska","sequence":"additional","affiliation":[{"name":"Department of Allergology, Medical University of Gdansk, 80-210 Gdansk, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7779-9525","authenticated-orcid":false,"given":"Agnieszka","family":"Rosa","sequence":"additional","affiliation":[{"name":"Center of Excellence for Rare and Undiagnosed Disorders, Medical University of Warsaw, 02-091 Warsaw, Poland"},{"name":"Department of Pediatric Neurology and Rare Diseases, Medical University of Warsaw, 02-091 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jan","family":"Szumlicki","sequence":"additional","affiliation":[{"name":"Center of Excellence for Rare and Undiagnosed Disorders, Medical University of Warsaw, 02-091 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8803-646X","authenticated-orcid":false,"given":"Krzysztof","family":"Szcza\u0142uba","sequence":"additional","affiliation":[{"name":"Center of Excellence for Rare and Undiagnosed Disorders, Medical University of Warsaw, 02-091 Warsaw, Poland"},{"name":"Department of Pediatric Neurology and Rare Diseases, Medical University of Warsaw, 02-091 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Krystyna","family":"Szyma\u0144ska","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology and Rare Diseases, Medical University of Warsaw, 02-091 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jolanta","family":"Wierzba","sequence":"additional","affiliation":[{"name":"Department of Internal and Pediatric Nursing, Institute of Nursing and Midwifery, Medical University Gdansk, 80-208 Gdansk, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2026,4,23]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1002\/ajmg.a.61399","article-title":"Healthcare Recommendations for Joubert Syndrome","volume":"182","author":"Dempsey","year":"2020","journal-title":"Am. 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