Childhood Death in Iceland since 1950 and Potential Genetic Causes

• Main Author: Helga Brá Brimar Þórðardóttir 1998-
• Other Authors: Háskóli Íslands
• Format: Thesis
• Language: English
• Published: 2022
• Subjects: Læknisfræði; Iceland
• Online Access: http://hdl.handle.net/1946/42579

Introduction: According to The Book of Icelanders, approximately 4000 to 5000 children died before reaching the age of 10 years over the period from around 1950 to 2015. Of those children, around 850 also had one or more siblings that also died before the age of 10 years. The major aim of this study was to initiate a database of childhood death in the Icelandic population over the period from around 1950 to 2015 by collecting systematically medical information on children that died before the age of 10 years from historical paper medical records. Siblings that died before the age of 10 years were prioritized, as in such sibships there is a higher probability of an underlying genetic cause of death. In the case of recessive and X-linked genetic conditions, parental genotypes together with clinical information on the child and potential molecular diagnosis may suffice to identify possible genetic causes of early death of those children. Methods: A retrospective study was conducted that covered the period from around 1950 to 2015. The selection of the children in this study was mainly based on genealogy using the genealogical database at deCODE genetics, The Book of Icelanders. In addition we looked at children born to parents who are carriers of rare and low-frequency protein-altering sequence variants, predicted loss-of-function (pLOF) and missense variants, that display deficit of homozygosity. Medical information on the selected children was collected from medical paper records for phenotypic data at Sjúkraskrársafn Landspítali University Hospital of Iceland. Results: The most common age of death was between 0 and 1 year or 78.8% out of the 316 selected children. Paper medical records were not available for 100 children or 31.6%. Biological samples are potentially obtainable for 44 or 20.4% of the 216 children according to their medical record. The availability of biological samples open the possibility of performing whole-genome sequencing (WGS) that could possibly reveal a genetic cause to explain the death ...