Palliative care in children with spinal muscular atrophy type I: What do they need?

OBJECTIVE: Our aim was to describe the clinical evolution and needs of children with spinal muscular atrophy type I treated in a domiciliary palliative care program. METHOD: We undertook a retrospective chart review of nine consecutive patients. Descriptions of the clinical and demographic profile of children with spinal muscular atrophy (SMA) type I were referred to a pediatric palliative care team (PPCT). RESULTS: Six males and three females were admitted to the PPCT, all before six months of age, except for one afflicted with SMA type I with respiratory distress. The median time of attention was 57 days (range 1-150). The domiciliary attention mainly consisted of respiratory care. The patient with SMA type I with respiratory distress required domiciliary mechanical ventilation by tracheotomy. In all cases, a nasogastric tube (NT) was indicated. As end-of-life care, eight required morphine to manage the dyspnea, four received it only by enteral (oral or NT) administration, and four received it first by enteral administration with continuous subcutaneous infusion (CSI) later. Three of the four patients with CSI also received benzodiazepines. While they were attended by the PPCT, none required hospital admission. All the patients died at home except for the one attended to for just one day. SIGNIFICANCE OF RESULTS: Domiciliary care for these patients is possible. The respiratory morbidity and its management are the main issues. Application of an NT is useful to maintain nutritional balance. Morphine administration is necessary to manage the dyspnea. Palliative sedation is not always necessary.

Respiratory management of spinal muscular atrophy type 2.

Respiratory insufficiency is the primary cause of morbidity and mortality among patients with spinal muscular atrophy type 2. The primary complications include ineffective cough with decreased airway clearance, nocturnal hypoventilation, diminished lung and chest wall development, and increased risk for pulmonary infection. Respiratory devices including mechanical insufflator-exsufflator and bilevel positive airway pressure are the primary devices of respiratory maintenance and treatment and are associated with decreased morbidity and fewer hospital admissions. This article discusses the primary respiratory complications of spinal muscular atrophy type 2 and the role of respiratory interventions to promote growth and development, improve cough efficacy, reverse nocturnal hypoventilation, and prevent and treat pulmonary infection.

Modern management of spinal muscular atrophy.

Spinal muscular atrophy is an incurable disease with a frequency of 8 per 100,000 live births. The disease gene, survival motor neuron 1 (SMN1), was identified with a disease modifying gene, SMN2. There is a high mortality rate in infancy and severe morbidity in childhood. Management depends on treating or preventing complications of weakness and maintaining quality of life. Weakness may affect several organ systems: respiratory, due to restrictive lung disease; gastrointestinal, in terms of dysphagia and constipation; and orthopedic, with progressive deformities. This review focuses on management of restrictive lung disease, the most common and most serious complication. Three areas of recent development are noninvasive ventilation using new technology, new awareness of the importance of identifying sleep-disordered breathing, and a new multidisciplinary approach to standard of care. Noninvasive ventilation and improved airway clearance are helpful for preoperative and postoperative management. Standard of care requires a multidisciplinary approach.

Home pediatric compassionate extubation: bridging intensive and palliative care.

Compassionate home extubation for pediatric patients is a topic that seldom appears in the literature and is of unknown clinical importance. However, standards in pediatric intensive care unit (PICU) and among pediatric critical care physicians regarding end-of-life decisions are changing, including where and when patient extubation occurs. The authors' hospice recently consulted on an infant with spinal muscular atrophy in the PICU requiring mechanical ventilation, for whom further life-sustaining care was deemed futile. In consultation with the family, nursing staff, physicians, and the ethics committee, and following protocol guidelines, arrangements were made for this infant and his parents to be transported home. Once comfortable with his family, a small amount of lorazepam was given and the endotracheal tube removed. The infant died quietly about 20 minutes later. This case prompted the authors to review the current state of published articles covering this topic, suggest a protocol for implementing home extubation, realize imposed barriers, and discuss potential solutions. A well-developed plan for home extubation procedures may improve interactions with PICU and hospice services and at the same time provide additional choices for parents and patients wishing to maximize end-of-life quality outside the hospital setting.

Infant neurologic assessment.

Infant neurologic assessment reflects the ongoing maturation of the central nervous system. Traditional approaches to assessment cannot be used. Key factors are accurate observation and flexibility in obtaining the data. A case example using a 4-month-old infant illustrates specific approaches to assessment.

[Mental stress of visiting-nursing staff in cases of severely handicapped children with respirators].

We evaluated the actual condition of work and mental stress on visiting nursing staff, for the purposes of establishing a suitable visiting-nursing system for severely handicapped children. The subjects were 13 visiting nurses involved in the care of two children with Werdnig-Hoffman disease. The visiting-nursing staff was examined by questionnaire. Of these staff, 77% felt a burden from their work. They felt a burden due to the special needs of pediatric patients and the relationship between the staff and parents. The relationship between visiting-nursing staff and other medical staff, including doctors, was another main factor in this burden. The younger nurses felt this burden more strongly.

An unusual neurologic problem: Werdnig-Hoffmann disease.

Werdnig-Hoffmann Disease, its pathophysiology, and the resulting symptoms are described in this article. A case study is presented with treatment goals outlined, and the appropriate nursing interventions are delineated.