ABSTRACT
Prematurity remains a leading cause of mortality and morbidity in neonates and children. Prevention of preterm birth and of its complications is a major public health issue. From before conception to long term follow up, many health actors are engaged in this preventive strategy with the same goal : to give the best quality of life for these vulnerable young patients. We will review different preventive aspects during antenatal and perinatal period, during NICU (Neonatal Intensive Care Unit) stay and after discharge. Prevention of prematurity's complications requires a global approach including respiratory, nutritional and infectious aspects among others. Neuroprotective strategies are a key point of this global approach.
La prématurité reste une cause majeure de mortalité et morbidité néonatales et infantiles. La prévention des naissances prématurées et de leurs complications est donc un enjeu majeur de santé publique. De la période pré-conceptionnelle au suivi à long terme de ces enfants, nombreux sont les acteurs impliqués dans un même objectif : offrir la meilleure qualité de vie à ces jeunes patients vulnérables. Nous reverrons ici différents aspects préventifs en période anténatale, périnatale, lors du séjour en néonatologie et lors du suivi après la sortie. La prévention des complications de la prématurité nécessite une prise en charge globale intégrée incluant, notamment, des aspects ventilatoires, nutritionnels, infectieux, néphrologiques et métaboliques. La neuroprotection est au centre des préoccupations et guide l'ensemble de l'approche.
Subject(s)
Infant, Premature, Diseases , Infant, Premature , Humans , Infant, Newborn , Infant, Premature, Diseases/prevention & control , Pregnancy , Female , Premature Birth/prevention & controlABSTRACT
BACKGROUND: Stuve-Wiedemann syndrome (SWS) is a rare and severe genetic disease characterized by skeletal anomalies and dysautonomic disturbances requiring appropriate care. Peer support is mandatory to fill the lack of clinical recommendations in such rare diseases. We report a new case and provide the first systematic review of all previous published cases. OBJECTIVE: To better describe the timeline of SWS and to improve paediatric management. DATA SOURCES: SWS English publications available on Pubmed until 31/03/2021. STUDY SELECTION: Case description combining typical osteo-articular and dysautonomic involvement (with 2 items by categories required for children < 2 years and 3 items > 2 years). DATA EXTRACTION: Demographic, clinical, genetics and outcome data. RESULTS: In our cohort of 69 patients, the median age at report was 32 months. Only 46% presented antenatal signs. Mortality rate is higher during the first 2 years (42% < 2 years; 10% > 2 years) mainly due to respiratory failure, pulmonary arterial hypertension appearing to be a poor prognosis factor (mortality rate 63%). After 2 years, orthopaedic symptoms significantly increase including joint mobility restriction (81%), spinal deformations (77%) and fractures (61%). CONCLUSIONS: Natural history of SWS is marked by a high mortality rate before 2 years due to dysautonomic disturbances. A specialized multidisciplinary approach is needed to address these early mortality risks and then adapt to the specific, mainly orthopaedic, needs of patients after 2 years of age. Further research is required to provide clinical guidelines and improve pre-natal counselling.