{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T15:20:42Z","timestamp":1780586442693,"version":"3.54.1"},"reference-count":28,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2025,3,2]],"date-time":"2025-03-02T00:00:00Z","timestamp":1740873600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Pediatric Rehabilitation Medicine"],"published-print":{"date-parts":[[2025,5]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Chiari II malformation occurs in one of 1000 live births and causes posterior fossa malformation. In Chiari II malformation, a lumbosacral meningomyelocele is nearly always present. Achondroplasia is the most common cause of dwarfism, occurring in one of 26,000 live births. Both Chiari II malformation and achondroplasia can cause compression at the craniocervical junction and consecutive hydrocephalus.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>The case of a three-year-old male with Chiari II malformation, lumbosacral meningomyelocele, and achondroplasia is presented. To the authors\u2019 knowledge, this is the second such case that has been reported so far. A surgical therapy of a lumbosacral meningomyelocele and an implantation of a ventriculoperitoneal shunt was performed in the first month after birth. At the age of two years, occipitoatlantoaxial stenosis required spinal decompression and laminectomy. The child presented in the outpatient department with life-threatening respiratory dysregulation, comprising prolonged expiratory apnoea with cyanosis (PEAC), acquired central hypoventilation syndrome, central sleep apnoea and obstructive sleep apnoea. He also presented with delayed language development, paraplegia, a neurogenic bladder, and dwarfism. The patient received non-invasive ventilation and had an individually adapted set of assistive and therapeutic devices. Cough insufficiency necessitated the adaption of mechanical insufflation-exsufflation. Speech and language therapy, physiotherapy, and occupational therapy were performed regularly. The patient started attending kindergarten just before his fourth birthday. At his one year follow-up, the patient's language capacities substantially improved and PEAC was not reported anymore.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>When osseous, cerebral, and spinal disease are accompanied by life-threatening respiratory impairment, the following factors can reduce the impact of disability and can foster participation: treatment by an interdisciplinary team, the availability of assistive and rehabilitative technologies, living in a barrier-free home, a developmentally appropriate environment, and the continuous presence of trained caregivers.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/18758894241313094","type":"journal-article","created":{"date-parts":[[2025,3,4]],"date-time":"2025-03-04T13:36:30Z","timestamp":1741095390000},"page":"137-145","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":3,"title":["Rehabilitation in a child with Chiari II malformation, lumbosacral meningomyelocele, achondroplasia and impaired respiratory regulation \u2013 a case report and literature review"],"prefix":"10.1177","volume":"18","author":[{"given":"Riekje","family":"Nei\u00dfkenwirth","sequence":"first","affiliation":[{"name":"Faculty of Medicine and Health Sciences, Carl von Ossietzky University Oldenburg, Oldenburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5245-4958","authenticated-orcid":false,"given":"Christian","family":"Mathys","sequence":"additional","affiliation":[{"name":"Institute of Radiology and Neuroradiology, Evangelisches Krankenhaus Oldenburg, Medical Campus University of Oldenburg, Oldenburg, Germany"},{"name":"Research Center Neurosensory Science, University of Oldenburg, Oldenburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9894-6897","authenticated-orcid":false,"given":"Marc-Phillip","family":"Hitz","sequence":"additional","affiliation":[{"name":"Department for Medical Genetics, University of Oldenburg, Oldenburg, Germany"},{"name":"German Centre for Cardiovascular Research (DZHK), Partner Site Kiel, Kiel, Germany"},{"name":"Competence Network for Congenital Heart Defects, Berlin, Germany"},{"name":"Department of Congenital Heart Disease and Paediatric Cardiology, University Hospital of Schleswig-Holstein, Kiel, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3896-262X","authenticated-orcid":false,"given":"Tobias","family":"Linden","sequence":"additional","affiliation":[{"name":"Klinikum Oldenburg, Department of Neuropediatrics, University Children's Hospital, Oldenburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Gro\u00df","sequence":"additional","affiliation":[{"name":"Faculty of Medicine and Health Sciences, Carl von Ossietzky University Oldenburg, Oldenburg, Germany"},{"name":"MEDIAN Clinic Bad Tennstedt, Departement of Neurology, Bad Tennstedt, Germany"},{"name":"German Society for Out-of-hospital Ventilation and Intensive Care (DIGAB), Lenglern, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2025,3,2]]},"reference":[{"key":"e_1_3_4_2_2","doi-asserted-by":"publisher","DOI":"10.2147\/TACG.S51485"},{"key":"e_1_3_4_3_2","doi-asserted-by":"publisher","DOI":"10.12998\/wjcc.v2.i11.711"},{"key":"e_1_3_4_4_2","volume-title":"GeneReviews\u00ae [Internet]","author":"Legare JM","year":"1993","unstructured":"Legare JM. Achondroplasia. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJ, et al. (eds) GeneReviews\u00ae [Internet]. Seattle, WA: University of Washington, 1993 [cited 2024 Mar 28], http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1152\/."},{"key":"e_1_3_4_5_2","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2020-1010"},{"key":"e_1_3_4_6_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2012.04234.x"},{"key":"e_1_3_4_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2006.10.058"},{"key":"e_1_3_4_8_2","doi-asserted-by":"publisher","DOI":"10.1080\/09638288.2018.1447028"},{"key":"e_1_3_4_9_2","doi-asserted-by":"publisher","DOI":"10.5664\/jcsm.10062"},{"key":"e_1_3_4_10_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00381-020-04675-7"},{"key":"e_1_3_4_11_2","doi-asserted-by":"publisher","DOI":"10.1177\/2054270416669303"},{"key":"e_1_3_4_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(85)90583-5"},{"key":"e_1_3_4_13_2","doi-asserted-by":"publisher","DOI":"10.1159\/000120533"},{"key":"e_1_3_4_14_2","doi-asserted-by":"publisher","DOI":"10.2176\/nmc.35.876"},{"key":"e_1_3_4_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(78)80421-1"},{"key":"e_1_3_4_16_2","first-page":"25","article-title":"Respiratory complications in children with Chiari malformation type II associated with myelomeningocele","volume":"48","author":"Mizuguchi K","year":"2016","unstructured":"Mizuguchi K, Morota N, Kubota M. Respiratory complications in children with Chiari malformation type II associated with myelomeningocele. No Hattatsu Brain Dev 2016 Jan; 48: 25\u201328.","journal-title":"No Hattatsu Brain Dev"},{"key":"e_1_3_4_17_2","doi-asserted-by":"publisher","DOI":"10.3171\/2018.5.PEDS18160"},{"key":"e_1_3_4_18_2","doi-asserted-by":"publisher","DOI":"10.1542\/peds.78.1.44"},{"key":"e_1_3_4_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(95)70236-9"},{"key":"e_1_3_4_20_2","doi-asserted-by":"publisher","DOI":"10.1176\/jnp.12.2.193"},{"key":"e_1_3_4_21_2","volume-title":"StatPearls [Internet]","author":"Kuhn J","year":"2024","unstructured":"Kuhn J, Weisbrod LJ, Emmady PD. Chiari malformation type 2. In: StatPearls [Internet]. Treasure Island, FL: StatPearls Publishing, 2024 [cited 2024 Nov 7], http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK557498\/."},{"key":"e_1_3_4_22_2","first-page":"1","article-title":"Spina bifida","volume":"1","author":"Copp AJ","year":"2015","unstructured":"Copp AJ, Adzick NS, Chitty LS, et al. Spina bifida. Nat Rev Dis Primer [Internet] 2015 Apr 30 [cited 2024 Nov 7]; 1: 1\u201318, https:\/\/www.nature.com\/articles\/nrdp20157.","journal-title":"Nat Rev Dis Primer [Internet]"},{"key":"e_1_3_4_23_2","unstructured":"Guidelines for the Care of People with Spina Bifida - SBAA [Internet]. 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