Palliative care in 9 children with neurodegeneration with brain iron accumulation
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ORIGINAL ARTICLE
Palliative care in 9 children with neurodegeneration with brain iron accumulation Tomasz Dangel 1
&
Tomasz Kmieć 2
&
Artur Januszaniec 1 & Barbara Ważny 1
Received: 4 June 2019 / Accepted: 9 October 2019 / Published online: 22 November 2019 # The Author(s) 2019
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. Keywords NBIA . PKAN . Hospice . Ketogenic diet . Botulinum toxin . Quality care
Introduction Neurodegeneration with brain iron accumulation (NBIA) is a heterogeneous group of rare diseases. There are two main
* Tomasz Dangel [email protected] Tomasz Kmieć [email protected] Artur Januszaniec [email protected] Barbara Ważny [email protected] 1
Warsaw Hospice for Children Foundation, Agatowa 10, 03-680 Warsaw, Poland
2
Department of Neurology and Epileptology, Children’s Memorial Health Institute, Warsaw, Poland
types of NBIA: type 1, pantothenate kinase associated with neurodegeneration (PKAN), most often caused by the mutation of the PANK2 gene [1]; and type 2, mitochondrial protein–associated neurodegeneration (MPAN), caused by the mutation of the c19orf12 gene [2]. Besides those two types, there are other types of NBIA genes [3]. Pediatric NBIA occurs before the age of 10. There are two clinical presentations which depend on the age of the onset. The first one, which begins between the 1st and 2nd years of age, is characterized by muscle stiffness, generalized dystonia with torsional positioning of the feet and hands, and symptoms of oral-mandibular-vocal dystonia. In addition, the
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