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Trisomy 18 (Edwards Syndrome)

John Hilton Edwards first described the symptoms of the genetic disorder known as Trisomy 18 - one of the most common forms of trisomy, which occurs when cells have an extra copy of a chromosome, in humans - in 1960. Trisomy 18, also known as Edwards Syndrome, occurs approximately once per 6000 live births and is second in frequency only to Trisomy 21, or Down's Syndrome, as an autosomal trisomy. Trisomy 18 causes substantial developmental problems in utero.

Format: Articles

Subject: Disorders

Smith v. Cote (1986)

The case of Smith v. Cote (1986) answered two important questions concerning law and childbirth: does the State of New Hampshire recognize a cause of action for what is defined as wrongful birth, and does the State recognize a cause of action for what is classified as wrongful life? In the case of Smith v. Cote, damages were permitted for wrongful birth, but not for the action of wrongful life.

Format: Articles

Subject: Legal, Disorders

Niemann-Pick Disease

In 1914 Albert Niemann, a German pediatrician who primarily studied infant metabolism, published a description of an Ashkenazi Jewish infant with jaundice, nervous system and brain impairments, swollen lymph nodes (lymphadenopathy), and an enlarged liver and spleen (hepatosplenomegaly). He reported that these anatomical disturbances resulted in the premature death of the child at the age of eighteen months. After extensively studying the abnormal characteristics of the infant, Niemann came to the conclusion that the disease was a variant of Gaucher's disease.

Format: Articles

Subject: Disorders

Congenital Rubella Syndrome (CRS)

Congenital rubella syndrome (CRS) can occur in children whose mothers contracted the rubella virus, sometimes called German measles, during pregnancy. Depending on the gestational period when the mother contracts rubella, an infant born with CRS may be unaffected by the virus or it may have severe developmental defects. The most severe effects of the virus on fetal development occur when the mother contracts rubella between conception and the first trimester.

Format: Articles

Subject: Disorders

Fetus in Fetu

Fetus in fetu is a rare variety of parasitic twins , where the developmentally abnormal parasitic twin is completely encapsulated within the torso of the otherwise normally developed host twin. In the late eighteenth century, German anatomist Johann Friedrich Meckel was the first to described fetus in fetu, which translates to “fetus within fetus.” Fetus in fetu is thought to result from the unequal division of the totipotent inner cell mass , the mass of cells that is the ancestral precursor to all cells in the body.

Subject: Theories, Disorders, Reproduction

Angelman Syndrome

Angelman syndrome is a disorder in humans that causes neurological symptoms such as lack of speech, jerky movements, and insomnia. A human cell has two copies of twenty-three chromosomes for a total of forty-six-one copy from its mother and one from its father. But in the case of Angelman syndrome, the maternal chromosome numbered 15 has a mutation or deletion in its DNA and a gene on the paternal chromosome 15 is inactivated in some parts the brain. The result is the paternal gene is silenced during development of the sperm, which is called genetic imprinting.

Format: Articles

Subject: Disorders

Studies of Thalidomide's Effects on Rodent Embryos from 1962-2008

Thalidomide is a sedative drug introduced to European markets on 1 October 1957 after extensive testing on rodent embryos to ensure its safety. Early laboratory tests in rodent populations showed that pregnant rodents could safely use it, so doctors prescribed Thalidomide to treat morning sickness in pregnant women. However, in humans Thalidomide interfered with embryonic and fetal development in ways not observed in rodent tests.

Format: Articles

Subject: Organisms, Reproduction, Disorders

“Annual Research Review: Prenatal Stress and the Origins of Psychopathology: An Evolutionary Perspective” (2011), by Vivette Glover

In 2011, fetal researcher Vivette Glover published “Annual Research Review: Prenatal Stress and the Origins of Psychopathology: An Evolutionary Perspective,” hereafter, “Prenatal Stress and the Origins of Psychopathology,” in the Journal of Child Psychology and Psychiatry. In that article, Glover explained how an evolutionary perspective may be useful in understanding the effects of fetal programming. Fetal programming is a hypothesis that attempts to explain how factors during pregnancy can affect fetuses after birth.

Format: Articles

Subject: Theories, Reproduction, Disorders

Emma Wolverton (1889–1978)

Emma Wolverton, also known as Deborah Kallikak, lived her entire life in an institution in New Jersey after psychologist Henry Goddard classified her as feeble-minded. He also wrote a book about Wolverton and her family that psychiatrists previously used to show that intellectual disability is hereditary. At the time, researchers in the psychology field, including Goddard, were working to understand differences in people’s intellectual abilities. They used the term feeble-minded to refer to those they described as having lower intellectual functioning.

Format: Articles

Subject: People, Disorders

Thesis: Leo Kanner and the Psychobiology of Autism

This thesis illustrates that Kanner held an explicitly descriptive frame of reference toward his eleven child patients, their parents, and autism. Adolf Meyer, his mentor at Johns Hopkins, trained him to make detailed life-charts under a clinical framework called psychobiology. By understanding that Kanner was a psychobiologist by training, I revisit the original definition of autism as a category of mental disorder and restate its terms.

Format: Essays and Theses

Subject: People, Disorders

Dissertation: Fetal Risk, Federal Response: How Fetal Alcohol Syndrome Influenced the Adoption of Alcohol Health Warning Labels

In the fifteen years between the discovery of fetal alcohol syndrome, or FAS, in 1973 and the passage of alcohol beverage warning labels in 1988, FAS transformed from a medical diagnosis between practitioner and pregnant women to a broader societal risk imbued with political and cultural meaning. In this dissertation, I examine how scientific, social, moral, and political narratives dynamically interacted to construct the risk of drinking during pregnancy and the public health response of health warning labels on alcohol.

Format: Essays and Theses

Subject: Disorders, Reproduction, Legal

Thesis: From Monsters to Medicine: A Historical Analysis of Changes in the Field of Teratology Over the Twentieth Century

This project focuses on the history of how teratogens, or agents which have the potential to cause birth defects, have been understood and tested for teratogenic potential in the US over the twentieth century. Prior to this time, teratogen studies were primarily concerned with cataloguing defects rather than exploring possible causes. At the turn of the twentieth century, experimental teratogen studies with the aim of elucidating mechanisms commenced.

Format: Essays and Theses

Subject: Disorders

Thesis: Socioeconomic and Cultural Ideas of Endometriosis in Low and Middle-Income Countries: A Narrative Literature Review

Endometriosis is a condition characterized by the growth of the endometrium, or the tissue that lines the uterus, outside of the uterus, and it is diagnosed through the presence of endometriotic lesions in the pelvic region. The disease is most often associated with abnormal and painful vaginal bleeding.

Format: Essays and Theses

Subject: Disorders, Places, Outreach

Human Papillomavirus (HPV) Strains 6 and 11 and Strains 16 and 18

Human Papillomavirus, or HPV, is a viral pathogen that most commonly spreads through sexual contact. HPV strains 6 and 11 normally cause genital warts, while HPV strains 16 and 18 commonly cause cervical cancer, which causes cancerous cells to spread in the cervix. Physicians can detect those HPV strains, using a Pap smear, which is a diagnostic test that collects cells from the female cervix.

Format: Graphics

Subject: Theories, Disorders

“On the Influence of Abnormal Parturition, Difficult Labors, Premature Birth, and Asphyxia Neonatorum, on the Mental and Physical Condition of the Child, Especially in Relation to Deformities” (1861), by William John Little

In 1861, William John Little published, “On The Influence of Abnormal Parturition, Difficult Labors, Premature Birth, and Asphyxia Neonatorum, on the Mental and Physical Condition of the Child, Especially in Relation to Deformities,” hereafter “Abnormal Parturition,” in the Transactions of the Obstetrical Society of London. In the article, Little discussed the causes and types of what he refers to as abnormal births, and theorized how those births affect an infant’s likelihood of exhibiting a deformity.

Format: Articles

Subject: Disorders, Publications