Integrating pediatric palliative care across the spectrum of life threatening pediatric neuromuscular disorders focused on Spinal muscular atrophy type I and Duchenne muscular dystrophy

Neuromuscular disorders (NMD) are the second most frequent cause of death in children and adolescents with life-threatening diseases (LTD). Aim of this retrospective pilot study is the analysis of the specific, health needs orientated course of specialised pediatric palliative care (SPPC) in children with NMD focused on the most frequent NMD in childhood spinal muscular atrophy type I (SMA I) and Duchenne muscular dystrophy (DMD). Options for SPPC in pediatric patients with LTD encompasses six phases: P1. peri-diagnostic phase P2. treatment decision-making P3. changes in functional status 4. life threatening events P5 terminal phase P6 death and bereavement. Over the period 2007 until 2010 six children with SMA I and four juvenile patients with DMD received SPPC over a mean period of six months (min. one month, max. 16 months). The continuous SPPC of children with SMA I encompassed the phases P1 or P2 up to P6 (mean period five months). 4/6 infants with SMA I died at a mean age of 10 months, 1/4 child with intermediate type SMA died at the age of 52 months. 2/5 patients died in hospital and 3/5 died at home. The analysis of the „family-SPPC-contact“ data enables a statement regarding the causes for hospitalisation in phase P5. SPPC of the juvenile patients with DMD was discontinuous over a period of six months in the phases P2 until P4 and in 1/4 patients continuous in phase P5 to P6. Events leading to the integration of SPPC in the DMD patient cohort were in 2/4 acute respiratory failure and in 1/4 severe left ventricular failure. In contrast to SPPC in pediatric oncology SPPC of children with NMD reveals a variable intensity and frequency of care. The development of a standardised comprehensive model of SPPC for NMD requires (i) the definition of measurement tools for quality of life (QL) (ii) assessment of symptoms and QL (iii) evaluation of the dynamic and variable clinical course of NMD with the objective of (iv) amelioriation of QL and optimal symptom management.