Research Topic

Updates on the Neuropathology of Sudden Unexplained Perinatal Death and other Neurodevelopmental Disorders

About this Research Topic

Perinatal mortality includes both fetal deaths (stillbirths) and deaths in the first week of life. Worldwide, there are over 6.3 million perinatal deaths a year, almost all of which occur in developing countries. Stillbirths and neonatal deaths have many common determinants, such as maternal diseases, inadequate care or complications during pregnancy and delivery, and genetic mutations. The first few hours of postnatal life are also particularly sensitive, as this is a critical time for successful transition from intra-uterine to extra-uterine life wherein newborns are less responsive and more vulnerable to stressors. In the case of perinatal death, an important first step is the postmortem examination as it can reveal important pathology underlying the possible causes of this inauspicious event. However, no special etiology can be determined in most intrauterine and neonatal deaths, even after accurate autopsy investigations.

Often, detailed examination of the autonomic nervous system can reveal subtle developmental alterations potentially providing a plausible explanation for the sudden death. Other neurodevelopmental disorders characterized by profound dysautonomia caused by single gene mutations may also lead to sudden unexplained death in perinatal life and infancy. Some of these dysfunctional conditions are also thought to involve a state of “immaturity” of autonomic control systems. They include Rett syndrome, Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder, Pitt-Hopkins syndrome, Congenital central hypoventilation syndrome (CCHS), and GRIN1-Related Neurodevelopmental Disorder. Thus, the rationale for this Research Topic is to advance the state of knowledge and expertise for investigating the neuropathology of unexplained perinatal deaths and, in particular:

• Contribute to the identification of the pathogenic mechanisms underlying these deaths (especially if known gene mutations are absent), in the context of the interactions with environmental risk factors (e.g. early exposure to smoking, air and water pollution, pesticides, food contamination) and neuropathological findings;

• Encourage detailed examination of the autonomic nervous system as well as genetic risk in cases of sudden collapse in the first hours of life, especially if death occurs during clinical interventions such as skin-to-skin care;

• Facilitate the development of evidence-based prevention and management strategies to decrease the incidence of these inexplicable and devastating perinatal deaths.

Another aim of this proposal is to deepen the knowledge regarding developmental brain dysfunctions, which can manifest later in life as neuropsychiatric disorders or impaired motor function, learning, language or non-verbal communication behaviors such as crying, Attention Deficit Hyperactivity Disorder (ADHD) or Autism Spectrum Disorders (ASD). A related goal is to inform the literature on the role of early life experiences, often associated with pre- or perinatal environment exposures, in shaping the developing brain and vulnerability for later neurodevelopmental outcome.

Expert authors are encouraged to submit Original Research Articles aimed to widen the current knowledge on the neuropathological substrates of the aforementioned pathologies. Submissions of Hypotheses and Theories, Opinions and General Commentaries also will be welcome. Manuscripts indirectly related to the specific aims of the Research Topic will be considered as well.

Topic Editor Dr. Ana Paula Abdala provided paid consultancy and received research funding from the private sector. All other Topic Editors declare no competing interests with regards to the Research Topic subject.


Keywords: unexplained perinatal death, neuropathology, neurodevelopmental disorders, gene mutations, environmental risk factors


Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.

Perinatal mortality includes both fetal deaths (stillbirths) and deaths in the first week of life. Worldwide, there are over 6.3 million perinatal deaths a year, almost all of which occur in developing countries. Stillbirths and neonatal deaths have many common determinants, such as maternal diseases, inadequate care or complications during pregnancy and delivery, and genetic mutations. The first few hours of postnatal life are also particularly sensitive, as this is a critical time for successful transition from intra-uterine to extra-uterine life wherein newborns are less responsive and more vulnerable to stressors. In the case of perinatal death, an important first step is the postmortem examination as it can reveal important pathology underlying the possible causes of this inauspicious event. However, no special etiology can be determined in most intrauterine and neonatal deaths, even after accurate autopsy investigations.

Often, detailed examination of the autonomic nervous system can reveal subtle developmental alterations potentially providing a plausible explanation for the sudden death. Other neurodevelopmental disorders characterized by profound dysautonomia caused by single gene mutations may also lead to sudden unexplained death in perinatal life and infancy. Some of these dysfunctional conditions are also thought to involve a state of “immaturity” of autonomic control systems. They include Rett syndrome, Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder, Pitt-Hopkins syndrome, Congenital central hypoventilation syndrome (CCHS), and GRIN1-Related Neurodevelopmental Disorder. Thus, the rationale for this Research Topic is to advance the state of knowledge and expertise for investigating the neuropathology of unexplained perinatal deaths and, in particular:

• Contribute to the identification of the pathogenic mechanisms underlying these deaths (especially if known gene mutations are absent), in the context of the interactions with environmental risk factors (e.g. early exposure to smoking, air and water pollution, pesticides, food contamination) and neuropathological findings;

• Encourage detailed examination of the autonomic nervous system as well as genetic risk in cases of sudden collapse in the first hours of life, especially if death occurs during clinical interventions such as skin-to-skin care;

• Facilitate the development of evidence-based prevention and management strategies to decrease the incidence of these inexplicable and devastating perinatal deaths.

Another aim of this proposal is to deepen the knowledge regarding developmental brain dysfunctions, which can manifest later in life as neuropsychiatric disorders or impaired motor function, learning, language or non-verbal communication behaviors such as crying, Attention Deficit Hyperactivity Disorder (ADHD) or Autism Spectrum Disorders (ASD). A related goal is to inform the literature on the role of early life experiences, often associated with pre- or perinatal environment exposures, in shaping the developing brain and vulnerability for later neurodevelopmental outcome.

Expert authors are encouraged to submit Original Research Articles aimed to widen the current knowledge on the neuropathological substrates of the aforementioned pathologies. Submissions of Hypotheses and Theories, Opinions and General Commentaries also will be welcome. Manuscripts indirectly related to the specific aims of the Research Topic will be considered as well.

Topic Editor Dr. Ana Paula Abdala provided paid consultancy and received research funding from the private sector. All other Topic Editors declare no competing interests with regards to the Research Topic subject.


Keywords: unexplained perinatal death, neuropathology, neurodevelopmental disorders, gene mutations, environmental risk factors


Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.

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Submission Deadlines

15 July 2020 Manuscript

Participating Journals

Manuscripts can be submitted to this Research Topic via the following journals:

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Topic Editors

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Submission Deadlines

15 July 2020 Manuscript

Participating Journals

Manuscripts can be submitted to this Research Topic via the following journals:

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