Prenatal, Neonatal, and Early Childhood Features in Congenital Myotonic Dystrophy
| Autor: | Delia Ceballos-Sáenz, Rhiannon Hicks, Eugenio Zapata-Aldana, Craig Campbell |
|---|---|
| Rok vydání: | 2018 |
| Předmět: |
Adult
Male Polyhydramnios 0301 basic medicine Canada Respiratory Therapy Pediatrics medicine.medical_specialty Gastrointestinal Diseases Gestational Age Neonatal onset Myotonic dystrophy Cerebral Ventricles Cohort Studies 03 medical and health sciences Enteral Nutrition 0302 clinical medicine Pregnancy Cryptorchidism Intubation Intratracheal medicine Humans Myotonic Dystrophy Prospective Studies Prospective cohort study Respiratory Tract Infections Respiratory tract infections business.industry Infant Newborn Infant Length of Stay medicine.disease Respiration Artificial Musculoskeletal Abnormalities Natural history 030104 developmental biology Neonatal hypotonia Neurology Child Preschool Cohort Female Neurology (clinical) business 030217 neurology & neurosurgery |
| Zdroj: | Journal of Neuromuscular Diseases. 5:331-340 |
| ISSN: | 2214-3602 2214-3599 |
| DOI: | 10.3233/jnd-170277 |
| Popis: | Background Congenital myotonic dystrophy (CDM) is the neonatal onset and most severe presentation of Myotonic Dystrophy type 1. Since it first description, perinatal complications have been detailed including prolonged hospital stay, respiratory and feeding therapy during the neonatal period, although long-term complications are less documented. Objective Present a prospective cohort of CDM and compare it to the literature of other CDM case series, to adequately describe and contrast the prenatal, neonatal and infancy features of CDM. Methods A 5-year cohort of CDM eligible cases was conducted via the Canadian Pediatric Surveillance Program. 38 patients met the inclusion criteria. Comparison to other CDM case series published in the literature between 1992 and 2016 about perinatal and infancy morbidity. Result From a total of 118 cases, the most frequent features were Polyhydramnios (58%), feeding therapy (77%), intubation and ventilation (58%); neonatal death was reported in 16% of the cases; the most frequent long-term morbidity were respiratory tract infections. Conclusions We performed a detailed description of the main perinatal features of CDM and precise documentation of the mortality and morbidity during the first five years of life. This is an essential step in the knowledge of the natural history of CDM. |
| Databáze: | OpenAIRE |
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