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Arthur Earl Walker (1907-1995)
Arthur Earl Walker was a medical researcher and physician who studied the brain and neurosurgery in the United States during the twentieth century. Walker examined the connections of the thalamus to the rest of the brain and how the thalamus coordinates sensory signals. The thalamus is a cluster of nerve cells located between the two hemispheres of the brain and it is responsible for consciousness and sensory interpretation.
Format: Articles
Subject: People
Franz Max Albert Kramer (1878–1967)
Scientist Franz Max Albert Kramer worked as a psychiatrist in Poland and the Netherlands in the early twentieth century and is known for his contributions to research on psychological conditions that experts call hyperkinetic syndromes. Children with hyperkinetic syndromes display inattention, overactivity, and impulsivity. Along with scientist Hans Pollnow, Kramer defined a specific kind of hyperkinetic syndrome based on an initial case study of seventeen children, initially known as Kramer-Pollnow Syndrome.
Format: Articles
Subject: People
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
Bernard Sachs (1858-1944)
Bernard Sachs studied nervous system disorders in children in the
United States during the nineteenth and twentieth centuries. In the
late 1880s, Sachs described the fatal genetic neurological disorder
called amaurotic family idiocy, later renamed Tay-Sachs disease. The
disorder degrades motor skills as well as mental abilities in
affected individuals. The expected lifespan of a child with
Tay-Sachs is three to five years. In addition to working on
Tay-Sachs disease, Sachs described other childhood neurological and
Format: Articles
Subject: People
Role of Sonic Hedgehog (Shh) in Alcohol-Induced Craniofacial Abnormalities
Prenatal exposure to alcohol (ethanol) results in a continuum of physical and neurological developmental abnormalities that vary depending on the timing, duration, and degree of alcohol exposure. Heavy exposure during development may lead to the condition Fetal Alcohol Syndrome (FAS), characterized by growth deficits, neurological deficiencies and minor facial abnormalities. Alcohol is a known teratogen, an agent that causes birth defects and acts upon developing embryos through mechanisms that are not yet fully understood.
Format: Articles
Subject: Disorders
“An Extended Family with a Dominantly Inherited Speech Disorder” (1990), by Jane A. Hurst et al.
In 1990, researcher Jane Hurst and her colleagues published “An Extended Family With a Dominantly Inherited Speech Disorder,” in which they proposed that a single gene was responsible for a language disorder across three generations of a family. Affected individuals of the family, called the KE family, had difficulty producing, expressing and comprehending speech. Hurst and her team studied the KE family and the disorder at the Department of Clinical Genetics at the Great Ormond Street Hospital for Children in London, England.
Format: Articles
Subject: Publications, Disorders
Hydrocephalus During Infancy
Hydrocephalus is a congenital or acquired disorder characterized by the abnormal accumulation of cerebrospinal fluid within the cavities of the brain, called ventricles. The accumulation of cerebrospinal fluid, the clear fluid surrounding the brain and spinal cord, causes an abnormal widening of the ventricles. The widening creates potentially harmful pressure on the tissues of the brain that can result in brain damage or death.
Format: Articles
Subject: Disorders
Homunculus
The term homunculus is Latin for "little man." It is used in neurology today to describe the map in the brain of sensory neurons in each part of the body (the somatosensory homunculus). An early use of the word was in the 1572 work by Paracelsus regarding forays into alchemy, De Natura Rerum, in which he gave instructions in how to create an infant human without fertilization or gestation in the womb. In the history of embryology, the homunculus was part of the Enlightenment-era theory of generation called preformationism.
Format: Articles
Subject: Processes
Leo Kanner (1894-1981)
Leo Kanner studied and described early infantile autism in humans in the US during the twentieth century. Though Eugen Bleuler first coined the term autism in 1910 as a symptom of schizophrenia, Kanner helped define autism as a disease concept separate from schizophrenia. He helped found an early child psychiatry department in 1930 at the Johns Hopkins University Hospital in Baltimore, Maryland.
Format: Articles
Subject: People
Methylmercury and Human Embryonic Development
Methylmercury (MeHg) is an organic form of mercury that can damage the developing brains of human fetuses. Women who consume methylmercury during pregnancy can bear children who have neurological issues because methylmercury has toxic effects on the nervous system during embryonic development. During the third week of gestation, the human nervous system begins to form in the embryo. During this gestational period, the embryo's nervous system is particularly susceptible to the influence of neurotoxins like methylmercury that can result in abnormalities.
Format: Articles
Subject: Reproduction, Disorders
Tay-Sachs Disease
In 1881 British opthalmologist Warren Tay made an unusual observation. He reported a cherry-red spot on the retina of a one-year-old patient, a patient who was also showing signs of progressive degeneration of the central nervous system as manifested in the child's physical and mental retardation. This cherry-red spot is a characteristic that would eventually come to be associated with metabolic neurological disorders like Sandhoff, GM-1, Niemann-Pick, and, to the credit of Tay, the lysosomal storage disorder known as Tay-Sachs disease.
Format: Articles
Subject: Disorders
Robert Guthrie (1916–1995)
Robert Guthrie developed a method to test infants for phenylketonuria (PKU) in the United States during the twentieth century. PKU is an inherited condition that causes an amino acid called phenylalanine to build to toxic levels in the blood. Untreated, PKU causes mental disabilities. Before Guthrie’s test, physicians rarely tested infants for PKU and struggled to diagnosis it. Guthrie’s test enabled newborns to be quickly and cheaply screened at birth and then treated for PKU if necessary, preventing irreversible neurological damage.
Format: Articles
Subject: People
Facial Abnormalities of Fetal Alcohol Syndrome (FAS)
Prenatal exposure to alcohol (ethanol) results in a continuum of physical, neurological, behavioral, and learning defects collectively grouped under the heading Fetal Alcohol Spectrum Disorder (FASD). Fetal Alcohol Syndrome (FAS) was first defined in 1973 as a condition characterized by pre- and postnatal growth deficiencies, facial abnormalities, and defects of the central nervous system. The pattern of facial defects that occur as a result of ethanol exposure during development primarily affects the midline of the face, altering morphology of the eyes, nose, and lips.
Format: Articles
Subject: Disorders, Reproduction
Management of Myelomeningocele Study Clinical Trial (2003–2010)
From February 2003 to December 2010, researchers of the Management of Myelomeningocele Study, or MOMS, clinical trial compared the safety and efficacy of different treatments for a specific type of spina bifida, called myelomeningocele. Myelomeningocele, the most frequent and severe form of spina bifida, is a condition in which the bony spinal column does not develop correctly, which causes an opening of the spine, exposure of the spinal cord, and formation of a small sac containing cerebrospinal fluid.
Format: Articles
Subject: Experiments
Neonatal Jaundice
Neonatal jaundice is the yellow discoloration of the skin and eyes due to elevated bilirubin levels in the bloodstream of a newborn. Bilirubin is a byproduct of the breakdown of red blood cells. Jaundiced infants are unable to process bilirubin at a normal rate or they have an abnormally high amount of bilirubin in their bloodstream, resulting in a buildup of the yellow colored bilirubin. That build up is called hyperbilirubinemia and is the cause of jaundice.
Format: Articles
Subject: Disorders
Effects of Prenatal Alcohol Exposure on Central Nervous System Development
Prenatal exposure to alcohol (ethanol) results in a continuum of physical, neurological, behavioral, and learning defects collectively grouped under the heading Fetal Alcohol Spectrum Disorder (FASD). Fetal Alcohol Syndrome (FAS) is part of this group and was first defined in 1973 as a condition characterized by pre- and postnatal growth deficiencies, facial abnormalities and defects of the central nervous system (CNS). The CNS is particularly vulnerable to the effects of ethanol during prenatal development.
Format: Articles
Subject: Disorders, Reproduction
Early Infantile Autism and the Refrigerator Mother Theory (1943-1970)
In 1943, child psychiatrist Leo Kanner in the US gave the first account of Early Infantile Autism that encouraged psychiatrists to investigate what they called emotionally cold mothers, or refrigerator mothers. In 1949, Kanner published Problems of Nosology and Psychodynamics of Early Infantile Autism. In that article, Kanner described autistic children as reared in emotional refrigerators. US child psychiatrists claimed that some psychological or behavioral conditions might have origins in emotional or mental stress, meaning that they might be psychogenic.
Format: Articles
Effects of Prenatal Alcohol Exposure on Cerebellum Development
Prenatal exposure to alcohol (ethanol) results in a continuum of physical, neurological, behavioral, and learning defects collectively grouped under the heading fetal alcohol spectrum disorders (FASD). Fetal alcohol syndrome (FAS) is the most severe combination of these defects under this heading, and is characterized by pre- and postnatal growth deficiencies, facial abnormalities, and defects of the central nervous system (CNS).
Format: Articles
Subject: Disorders, Reproduction
Dandy-Walker Syndrome
Dandy-Walker Syndrome is a congenital brain defect in humans characterized by malformations to the cerebellum, the part of the brain that controls movement, and to the ventricles, the fluid-filled cavities that surround the cerebellum. The syndrome is named for physicians Walter Dandy and Arthur Walker who described associated signs and symptoms of the syndrome in the 1900s. The malformations often develop during embryonic stages.
Format: Articles
Subject: Disorders
Congenital Vertebral Defects
The spinal column is the central structure in the vertebrate body from which stability, movement, and posture all derive. The vertebrae of the spine are organized into four regions (listed in order from cranial to caudal): cervical, thoracic, lumbar, and pelvic. These regions are classified by their differences in curvature. The human spine usually consists of thirty-three vertebrae, seven of which are cervical (C1-C7), twelve are thoracic (T1-T12), five are lumbar (L1-L5), and nine are pelvic (five fused as the sacrum and four fused as the coccyx).
Format: Articles
Subject: Disorders, Reproduction
"Human Toxoplasmosis: Occurrence in Infants as an Encephalomyelitis Verification of Transmission to Animals" (1939), by Abner Wolf et al.
In a series of experiments during mid 1930s, a team of researchers in New York helped establish that bacteria of the species Toxoplasma gondii can infect humans, and in infants can cause toxoplasmosis, a disease that inflames brains, lungs, and hearts, and that can organisms that have it. The team included Abner Wolf, David Cowen, and Beryl Paige. They published the results of their experiment in Human Toxoplasmosis: Occurrence in Infants as an Encephalomyelitis Verification of Transmission to Animals.
Format: Articles
Subject: Experiments, Reproduction, Disorders
John Spangler Nicholas (1895-1963)
John Spangler Nicholas, an American biologist, was born on 10 March 1895 in Allegheny, Pennsylvania. He was the only child of Elizabeth Ellen Spangler, a teacher, and Samuel Trauger Nicholas, a Lutheran minister. Nicholas held myriad administrative positions throughout his life and his contributions to biology spanned several sub-disciplines, but his most notable accomplishments were in the field of embryology.
Format: Articles
Subject: People
Franz Josef Kallmann (1897–1965)
Franz Josef Kallmann studied the biological and genetic factors of psychological disorders in Germany and the United States in the twentieth century. His studies at the New York State Psychiatric Institute in New York City, New York, focused on the genetic factors that cause psychiatric disorders. Kallmann was one of the first to use twins to study how a mental disorder is passed on by comparing the occurrence of epilepsy and schizophrenia in both fraternal and identical twins.
Format: Articles
Subject: People
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
William John Little (1810–1894)
William John Little was one of the first orthopedic surgeons to research congenital malformations and their causes in the nineteenth century and presented preliminary research on a condition modernly known as cerebral palsy, a condition of varying severity that affects a person’s ability to move. Little worked throughout the United Kingdom for the majority of the time he practiced medicine, and eventually founded one of the first orthopedic infirmaries, the Royal Orthopedic Hospital in London, England.
Format: Articles