{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,9]],"date-time":"2026-05-09T15:31:56Z","timestamp":1778340716863,"version":"3.51.4"},"reference-count":42,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T00:00:00Z","timestamp":1773273600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Brain Sciences"],"abstract":"<jats:p>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\u2013postural 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.<\/jats:p>","DOI":"10.3390\/brainsci16030305","type":"journal-article","created":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T13:12:24Z","timestamp":1773321144000},"page":"305","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Multidimensional Functional Phenotyping in Children with Joubert Syndrome: A Pilot Case Series"],"prefix":"10.3390","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5251-4415","authenticated-orcid":false,"given":"\u0141ukasz","family":"Ma\u0144ski","sequence":"first","affiliation":[{"name":"Gdansk Medical Academy of Applied Sciences, 80-335 Gdansk, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-4206-0236","authenticated-orcid":false,"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 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 Disorders, 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 Disorders, Medical University of Warsaw, 02-091 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0290-1243","authenticated-orcid":false,"given":"Jolanta","family":"Wierzba","sequence":"additional","affiliation":[{"name":"Department of Internal and Pediatric Nursing, Institute of Nursing and Midwifery, Medical University of Gdansk, 80-208 Gdansk, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2026,3,12]]},"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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