The four children suffered from conditions of varying clinical significance ( Supplementary material online, p. The hypothesis that a genetic variant causing respiratory failure or arrhythmia could explain the SUD of the children provided the rationale for genomic studies. All the clinical, pathology, and legal case information, including the mother’s prison health records, and the children’s medical and autopsy records are publicly available in the exhibits to the inquiry and can be accessed via. The inquiry concluded before we completed our functional analysis and the mother remains in prison. The results presented here follow on from genomic investigations conducted at the request of the inquiry. In March 2019, a judicial inquiry into the mother's convictions commenced due to concerns raised by several forensic pathologists regarding the medical evidence provided at the trial. 6, 7 To date the mother has maintained her innocence. A psychiatrist that provided evidence to the inquiry and assessed the mother in March 2019 agreed that she did not suffer from a psychiatric illness that could explain infanticide but considered her to be suffering from complex post-traumatic stress disorder dating to her childhood. 5 Psychiatrists that assessed the mother in the early 2000s considered her not to be suffering from any psychiatric illness that could explain infanticide, such as personality disorder, psychopathy, psychosis, schizophrenia, bipolar disorder, or Munchausen’s syndrome by proxy. 5 In 2003, a jury found the mother guilty of the manslaughter of Child 1 and the murders of the remaining three children, notwithstanding that there was no history of abuse, no physical signs of smothering, no obvious motive, no eye witnesses, and no admission of guilt. 5 This evidence was thought to outweigh that in favour of death by natural causes. Inflammatory infiltrates are seen in the myocardium associated in places with myocyte necrosis (magnification: 100–400×).Ĭircumstantial evidence against the mother consisted primarily of tendency and coincidence evidence echoing Meadow's Law, and seemingly inculpatory diary entries. H&E staining of cardiac sections from Child 4’s autopsy. At autopsy she was found to have florid myocarditis ( Figure 1) and spleen cultures grew profuse α-haemolytic Streptococcus of two colonial types and moderate Staphylococcus aureus ( Supplementary material online, p. Child 4 (female) died at 18 months old, two days after being treated with paracetamol and pseudoephedrine for a respiratory infection. Child 3 (female) died at 10 months old, four days after seeing her general practitioner for a croupy cough and being started on antibiotics (flucloxacillin) autopsy findings included a congested and haemorrhagic uvula and profuse α-haemolytic Streptococcus in lung cultures. Child 2 (male) died at 8 months from asphyxia due to airway obstruction in turn due to epileptic fits from an encephalopathic disorder of unknown cause associated with blindness. 16, Table S1) Child 1 (male) died at 19 days having been diagnosed with ‘laryngomalacia’. ![]() Each child died suddenly during periods of rest over the course of 10 years (1989–99) ( Supplementary material online, p. In 2001, a mother from Newcastle in New South Wales was arrested and charged with smothering and killing her four young children. 1 While the maxim has since been discredited and several mothers, including Sally Clark and Angela Cannings have had their convictions overturned, 2, 3 an Australian woman has remained imprisoned. In the late 1990s and early 2000s, a series of high profile convictions of British mothers involved the statistical testimony of eminent paediatrician, Sir Roy Meadow, in support of his general rule that ‘one sudden infant death is a tragedy, two is suspicious and three is murder, until proved otherwise’. The two male children (Child 1 and 2) carried biallelic rare missense variants in BSN, a gene shown to cause early onset lethal epilepsy in mice when deleted.įew diagnostic odysseys involve such high stakes as the quest to determine whether recurring sudden unexpected deaths (SUD) of children in a single family are the result of natural causes or infanticide. Given the biophysical and functional impact of the CALM2 G114R variant, we consider the variant likely precipitated the natural deaths of the two female children (Child 3 and 4). This study identifies a novel and functional calmodulin variant ( CALM2 G114R) present in a mother convicted of infanticide and her two female children.īiochemical and electrophysiological studies of the G114R variant show that it has deleterious effects on calcium binding and regulation of the two pivotal calcium channels involved in cardiac excitation contraction coupling, Ca V1.2 and RyR2, in a similar manner to that of the pathogenic G114W and N98S variants.
0 Comments
Leave a Reply. |
AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |