Abstract
Aim
Evaluation of pediatric palliative home care of families with children suffering from neurodegeneration with brain iron accumulation (NBIA) and their parents.
Material and methods
The children were treated at home by a multidisciplinary team. Densitometry was used to evaluate the condition of the skeletal system. Botulinum toxin was injected into the muscles in doses between 22 and 50 units/kg. The quality of palliative care was assessed on the basis of a specially designed questionnaire for parents.
Results
The observations were performed on a group of 9 patients with NBIA. On admission, the median age of patients was 9 years (7–14). The average time of palliative home care was 1569 days (34 days–17 years). The median age at death (6 patients) was 11 years (7–15). The botulinum toxin injections gave the following results: reduction of spasticity and dystonia, reduction of spine and chest deformation, relief of pain and suffering, facilitation of rehabilitation and nursing, prevention of permanent contractures, and reduction of excessive salivation. Bone mineral density and bone strength index were reduced. Two patients experienced pathological fracture of the femur. The body mass index at admission varied between 9.8 and 14.9. In 7 cases, introduction of a ketogenic diet resulted in the increase of body mass and height. The ketogenic diet did not worsen the neurological symptoms. The parents positively evaluated the quality of care.
Conclusion
Palliative home care is the optimal form of treatment for children with NBIA.
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References
Hartig MB, Hörtnagel K, Garavaglia B, Zorzi G, Kmiec T, Klopstock T, Rostasy K, Svetel M, Kostic VS, Schuelke M, Botz E, Weindl A, Novakovic I, Nardocci N, Prokisch H, Meitinger T (2006) Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation. Ann Neurol 59:248–256. https://doi.org/10.1002/ana.20771
Hartig MB, Iuso A, Haack T, Kmiec T, Jurkiewicz E, Heim K, Roeber S, Tarabin V, Dusi S, Krajewska-Walasek M, Jozwiak S, Hempel M, Winkelmann J, Elstner M, Oexle K, Klopstock T, Mueller-Felber W, Gasser T, Trenkwalder C, Tiranti V, Kretzschmar H, Schmitz G, Strom TM, Meitinger T, Prokisch H (2011) Absence of an orphan mitochondrial protein, C19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation. Am J Hum Genet 89:543–550. https://doi.org/10.1016/j.ajhg.2011.09.007
Di Meo I, Tiranti V (2018) Classification and molecular pathogenesis of NBIA syndromes. Eur J Paediatr Neurol 22:272–284. https://doi.org/10.1016/j.ejpn.2018.01.008
Dangel T (ed.), Grenda R, Kaczkowski J, Pawlikowski J, Rawicz M, Sawicka E, Szeroczyńska M, Szymkiewicz-Dangel J, Świetliński J, Wichrowski M (2011) On refraining and withdrawing from aggressive life-sustaining therapy: the case of the child. Guidelines for physicians. The Polish Pediatric Society. Warsaw [In Polish] http://www.hospicjum.waw.pl/pliki/Artykul/1134_zaniechanieiwycofaniezleczeniapodtrzymujacegozycieudzieci-wytyczneptp-2011.pdf Accessed 3 June 2019
Dangel T, Fowler-Kerry S, Karwacki M, Bereda J (2000) An evaluation of a home palliative care programme for children. Ambul Child Health 6:101–114. https://doi.org/10.1046/j.1467-0658.2000.00064.x English questionnaire http://www.hospicjum.waw.pl/pliki/Artykul/1070_family-satisfaction-polish-hospice-questionnaire.pdf Accessed 3 June 2019
Kmieć T (2014) Natural course of neurodegeneration with brain iron accumulation (NBIA). Analysis of a phenotype and a genotype of two forms of NBIA in Poland. The Children’s Memorial Health Institute, Warsaw [In Polish]
Hogarth P, Kurian MA, Gregory A, Csányi B, Zagustin T, Kmiec T, Wood P, Klucken A, Scalise N, Sofia F, Klopstock T, Zorzi G, Nardocci N, Hayflick SJ (2017) Consensus clinical management guideline for pantothenate kinase-associated neurodegeneration (PKAN). Mol Genet Metab 120:278–287. https://doi.org/10.1016/j.ymgme.2016.11.004
Brunetti D, Dusi S, Giordano C, Lamperti C, Morbin M, Fugnanesi V, Marchet S, Fagiolari G, Sibon O, Moggio M, d'Amati G, Tiranti V (2014) Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model. Brain 137:57–68. https://doi.org/10.1093/brain/awt325
Jaminet P (2011) Ketogenic diet for NBIA (neurodegeneration with brain iron accumulation). Perfect Health Diet http://perfecthealthdiet.com/2011/02/ketogenic-diet-for-nbia-neurodegeneration-with-brain-iron-accumulation/ Accessed 3 June 2019
Dangel T, Januszaniec A, Stradomska TJ, Murawska M, Karkowska M, Kozera K (2013) Diagnostics of candidiasis and intestinal permeability in patients of the Warsaw Hospice for Children. Medycyna Paliatywna 5:58–69 [In Polish] https://hospicjum.waw.pl/pliki/Artykul/1294_diagnostyka-kandydozy.pdf Accessed 3 June 2019
Bednarska I, Boszko K, Dangel T (ed.), Dębska M, Grenda R, Januszaniec A, Karwacki M, Kurkiewicz A, Marczyk K, Niewęgłowska N, Piotrowski A, Rawicz M, Strus-Wołos M, Szewczyk K, Szymborski J, Szymkiewicz-Dangel J (2019) Standards of practice and medical procedures of pediatric palliative home care in hospices for children. Warsaw Hospice for Children Foundation. Warsaw. [In Polish] https://hospicjum.waw.pl/pliki/Artykul/1488_Standardy-2019.pdf Accessed 3 June 2019
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Contributions
Tomasz Dangel: symptom control, ketogenic diet, writing the manuscript
Tomasz Kmieć: neurological consultations and pharmacotherapy
Artur Januszaniec: symptom control, botulinum toxin treatment
Barbara Ważny: obtaining the clinical data, nursing palliative home care
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Dangel, T., Kmieć, T., Januszaniec, A. et al. Palliative care in 9 children with neurodegeneration with brain iron accumulation. Neurol Sci 41, 653–660 (2020). https://doi.org/10.1007/s10072-019-04099-5
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DOI: https://doi.org/10.1007/s10072-019-04099-5