title: [Multicentric study of medical care and practices in spinal muscular atrophy type 1 over two 10-year periods].
abstract: OBJECTIVE
  Questions about care practices and the role of palliative care in pediatric neurodegenerative diseases have led the Neuromuscular Committee of the French Society of Neurology to conduct a retrospective study in spinal muscular atrophy type 1, a genetic disease most often leading to death before the age of 1 year.
  
  
  METHODS
  A retrospective multicenter study from pediatricians included in the reference centers of pediatric neuromuscular diseases was carried out on two 10-year periods (1989-1998 and 1999-2009).
  
  
  RESULTS
  The 1989-1998 period included 12 centers with 106 patients, the 1999-2009 period 13 centers with 116 children. The mean age of onset of clinical signs was 2.1 months (range, 0-5.5 months), the median age at diagnosis was 4 months (range, 0-9 months) vs 3 months. The median age of death was 7.5 months (range, 0-24 months) vs 6 months. The care modalities included physiotherapy (90 %), motor support (61 % vs 26 % for the previous period), enteral nutrition by nasogastric tube (52 % vs 24 %), and 3.4 % of children had a gastrostomy (vs 1.8 %). At home, pharyngeal aspiration was used in 64 % (vs 41 %), oxygen therapy in 8 %, noninvasive ventilatory support in 7 %. The mean age at death was 8.1 months (range, 0-24 months) vs 7 months, the time from diagnosis to death was 4 months vs 3 months. Death occurred at home in 23 % vs 17 %, in a pediatric unit in 62 % vs 41 %. The use of analgesics and sedative drugs was reported in 60 % of cases: 40 % morphine (vs 18 %) and benzodiazepines in 48 % (vs 29 %). Respiratory support was limited mostly to oxygen by nasal tube (55 % vs 54 %), noninvasive ventilation in 9 % of the cases, and intubation and assisted mechanical ventilation (2 %).
  
  
  CONCLUSIONS
  These results confirm a change in practices and the development of palliative care in children with a French consensus of practices quite different from the standard care in North-America and closer to the thinking of English medical teams. A prospective study within the 2011 national hospital clinical research program (PHRC 2011) is beginning in order to evaluate practices and the role of families and caregivers.
authors.affiliation: Unité de neuropédiatrie, hôpital Necker enfants malades, AP-HP, 149, rue de Sèvres, 75015 Paris, France.
authors.forename: C
authors.initials: C
authors.lastname: Barnérias
authors.affiliation: Service de réanimation neuromusculaire, hôpital Raymond-Poincarré, AP-HP, 92380 Garches, France.
authors.forename: S
authors.initials: S
authors.lastname: Quijano
authors.affiliation: Service de neuropédiatrie, hôpital Armand-Trousseau, AP-HP, 75012 Paris, France.
authors.forename: M
authors.initials: M
authors.lastname: Mayer
authors.affiliation: Service de réanimation neuromusculaire, hôpital Raymond-Poincarré, AP-HP, 92380 Garches, France.
authors.forename: B
authors.initials: B
authors.lastname: Estournet
authors.affiliation: Service de neuropédiatrie, hôpital Jeanne-de-Flandres, 59037 Lille, France.
authors.forename: J-M
authors.initials: JM
authors.lastname: Cuisset
authors.affiliation: Hôpital Saint-Vincent-de-Paul, 59020 Lille, France.
authors.forename: S
authors.initials: S
authors.lastname: Sukno
authors.affiliation: Hôpital Morvan, 29609 Brest, France.
authors.forename: S
authors.initials: S
authors.lastname: Peudenier
authors.affiliation: Hôpital de la mère et l'enfant, 87000 Limoges, France.
authors.forename: C
authors.initials: C
authors.lastname: Laroche
authors.affiliation: Hôpital Nord, Couple mère-enfant, 42100 Saint-Étienne, France.
authors.forename: S
authors.initials: S
authors.lastname: Chabrier
authors.affiliation: Service de neuropédiatrie, American Memorial Hospital, 51092 Reims, France.
authors.forename: P
authors.initials: P
authors.lastname: Sabouraud
authors.affiliation: Centre hospitalier Lyon Sud, 69310 Pierre-Bénite, France.
authors.forename: C
authors.initials: C
authors.lastname: Vuillerot
authors.affiliation: Service de neuropédiatrie, hôpital de la Timone, 13005 Marseille, France.
authors.forename: B
authors.initials: B
authors.lastname: Chabrol
authors.affiliation: Service de neuropédiatrie, hôpital de la Timone, 13005 Marseille, France.
authors.forename: C
authors.initials: C
authors.lastname: Halbert
authors.affiliation: Unité de neuropédiatrie, hôpital des Enfants, 31059 Toulouse, France.
authors.forename: C
authors.initials: C
authors.lastname: Cancès
authors.affiliation: Service de pédiatrie, centre hospitalier de Pau, 64000 Pau, France.
authors.forename: P
authors.initials: P
authors.lastname: Beze-Beyrie
authors.affiliation: Équipe mobile de soins palliatifs pédiatriques, hôpital Necker enfants malades, AP-HP, 75015 Paris, France.
authors.forename: A
authors.initials: A
authors.lastname: Ledivenah
authors.affiliation: Équipe mobile de soins palliatifs pédiatriques, hôpital Necker enfants malades, AP-HP, 75015 Paris, France.
authors.forename: M-L
authors.initials: ML
authors.lastname: Viallard
authors.affiliation: Unité de neuropédiatrie, hôpital Necker enfants malades, AP-HP, 149, rue de Sèvres, 75015 Paris, France. Electronic address: isabelle.desguerre@nck.aphp.fr.
authors.forename: I
authors.initials: I
authors.lastname: Desguerre
mesh_terms: D004750:Enteral Nutrition / Q000379:methods; D005081:Exercise Therapy; D005260:Female; D005602:France; D005774:Gastrostomy; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D063087:Noninvasive Ventilation; D010102:Oxygen Inhalation Therapy; D010166:Palliative Care / Q000379:methods; D012189:Retrospective Studies; D014897:Spinal Muscular Atrophies of Childhood / Q000175:diagnosis / Q000401:mortality / Q000628:therapy*; D016019:Survival Analysis