{"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":1778340716778,"version":"3.51.4"},"reference-count":46,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2026,3,26]],"date-time":"2026-03-26T00:00:00Z","timestamp":1774483200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Children"],"abstract":"<jats:p>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\u00b0 to 90\u00b0, an increase in sacral slope from 5\u00b0 to 10\u00b0, 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.<\/jats:p>","DOI":"10.3390\/children13040452","type":"journal-article","created":{"date-parts":[[2026,3,26]],"date-time":"2026-03-26T13:50:15Z","timestamp":1774533015000},"page":"452","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Neurorehabilitation and Functional Improvement in Joubert Syndrome: A 12-Month Case Report"],"prefix":"10.3390","volume":"13","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\/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":"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"}]},{"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"}]},{"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":[[2026,3,26]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1186\/1750-1172-5-20","article-title":"Joubert Syndrome and Related Disorders","volume":"5","author":"Brancati","year":"2010","journal-title":"Orphanet J. 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