Melissa Parisi | |
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| Alma mater | Stanford University (M.D., Ph.D) |
| Scientific career | |
| Institutions | University of Washington National Institute of Child Health & Human Development |
Melissa A. Parisi is an American geneticist and physician. She is chief of the Intellectual and Developmental Disabilities Branch at the National Institute of Child Health & Human Development.
Parisi earned medical [1] and doctorate degrees in developmental biology from Stanford University, where her research focused on mitochondrial transcription. She completed a pediatric residency at the University of Washington, followed by fellowship training in medical genetics. [2]
Parisi was an assistant professor in the Department of Pediatrics at the University of Washington and Seattle Children's Hospital, where she was active as a clinical geneticist and as a researcher in the field of congenital malformations of the human hindbrain, specifically Joubert syndrome and related disorders. [2] In her clinical practice in Washington and Alaska, Parisi was involved in the evaluation, diagnosis, and management of children and adults with genetic syndromes, [1] chromosomal disorders, and developmental disabilities. Parisi also served as chair of the scientific advisory board of the Joubert Syndrome and Related Disorders Foundation. [2]
Parisi joined the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) in October 2008. She is chief of the NICHD Intellectual and Developmental Disabilities Branch. She currently oversees Intellectual and Developmental Disabilities Research Centers. She is interested in advancing basic, clinical, and translational research that will improve the lives of individuals with developmental disabilities. [2]
Fragile X syndrome (FXS) is a genetic disorder characterized by mild-to-moderate intellectual disability. The average IQ in males with FXS is under 55, while about two thirds of affected females are intellectually disabled. Physical features may include a long and narrow face, large ears, flexible fingers, and large testicles. About a third of those affected have features of autism such as problems with social interactions and delayed speech. Hyperactivity is common, and seizures occur in about 10%. Males are usually more affected than females.
Joubert syndrome is a rare autosomal recessive genetic disorder that affects the cerebellum, an area of the brain that controls balance and coordination.
Kabuki syndrome is a rare congenital disorder of genetic origin. It affects multiple parts of the body, with varying symptoms and severity, although the most common is the characteristic facial appearance.
Stanley Greenspan was an American child psychiatrist and clinical professor of Psychiatry, Behavioral Science, and Pediatrics at George Washington University Medical School. He was best known for developing the floortime approach for attempting to treat children with autistic spectrum disorders and developmental disabilities.
The Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) is one of the National Institutes of Health (NIH) in the United States Department of Health and Human Services. It supports and conducts research aimed at improving the health of children, adults, families, and communities, including:
Developmental disability is a diverse group of chronic conditions, comprising mental or physical impairments that arise before adulthood. Developmental disabilities cause individuals living with them many difficulties in certain areas of life, especially in "language, mobility, learning, self-help, and independent living". Developmental disabilities can be detected early on and persist throughout an individual's lifespan. Developmental disability that affects all areas of a child's development is sometimes referred to as global developmental delay.
Agenesis of the corpus callosum (ACC) is a rare birth defect in which there is a complete or partial absence of the corpus callosum. It occurs when the development of the corpus callosum, the band of white matter connecting the two hemispheres in the brain, in the embryo is disrupted. The result of this is that the fibers that would otherwise form the corpus callosum are instead longitudinally oriented along the ipsilateral ventricular wall and form structures called Probst bundles.
A delayed milestone, which is also known as a developmental delay, refers to a situation where a child does not reach a particular developmental milestone at the expected age. Developmental milestones refer to a collection of indicators that a child is anticipated to reach as they grow older.
Neurodevelopmental disorders are a group of conditions that begin to emerge during childhood. According to the American Psychiatric Association Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, (DSM-5) published in 2013, these conditions generally appear in early childhood, usually before children start school, and can persist into adulthood. The key characteristic of all these disorders is that they negatively impact a person's functioning in one or more domains of life depending on the disorder and deficits it has caused. All of these disorders and their levels of impairment exist on a spectrum, and affected individuals can experience varying degrees of symptoms and deficits, despite having the same diagnosis.
George P. Chrousos is professor of Pediatrics and Endocrinology Emeritus and former chairman of the Department of Pediatrics at the Athens University Medical School, Greece. Earlier he was senior investigator, director of the Pediatric Endocrinology Section and Training Program, and chief of the Pediatric and Reproductive Endocrinology Branch of the National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH). He is also clinical professor of Pediatrics, Physiology and Biophysics at Georgetown University Medical School and distinguished visiting scientist, NICHD, NIH. Dr. Chrousos was the first general director of the Foundation of Biomedical Research of the Academy of Athens (2001–2002). He holds the UNESCO Chair on Adolescent Health Care, while he held the 2011 John Kluge Chair in Technology and Society, Library of Congress, Washington, D.C.
Intellectual disability (ID), also known as general learning disability and mental retardation, is a generalized neurodevelopmental disorder characterized by significant impairment in intellectual and adaptive functioning that is first apparent during childhood. Children with intellectual disabilities typically have an intelligence quotient (IQ) below 70 and deficits in at least two adaptive behaviors that affect everyday, general living. According to the DSM-5, intellectual functions include reasoning, problem solving, planning, abstract thinking, judgment, academic learning, and learning from experience. Deficits in these functions must be confirmed by clinical evaluation and individualized standard IQ testing. On the other hand, adaptive behaviors include the social, developmental, and practical skills people learn to perform tasks in their everyday lives. Deficits in adaptive functioning often compromises an individual's independence and ability to meet their social responsibility.
Mental disorders diagnosed in childhood can be neurodevelopmental, emotional, or behavioral disorders. These disorders negatively impact the mental and social wellbeing of a child, and children with these disorders require support from their families and schools. Childhood mental disorders often persist into adulthood. These disorders are usually first diagnosed in infancy, childhood, or adolescence, as laid out in the DSM-5 and in the ICD-11.
Alan Edward Guttmacher is an American physician who was the director of the National Institute of Child Health (NICHD), one of the 27 institutes and centers that comprise the National Institutes of Health (NIH). In that capacity, he oversaw the institute’s activities as the focal point at the NIH for research in pediatric health and development, maternal health, reproductive health, intellectual and developmental disabilities, and rehabilitation medicine, among other areas.
Pitt–Hopkins syndrome (PTHS) is a rare genetic disorder characterized by developmental delay, epilepsy, distinctive facial features, and possible intermittent hyperventilation followed by apnea. Pitt–Hopkins syndrome can be marked by intellectual disabilities as well as problems with socializing. It is part of the clinical spectrum of Rett-like syndromes.
Diana W. Bianchi is the director of the U.S. National Institutes of Health Eunice Kennedy Shriver National Institute of Child Health and Human Development, a post often called “the nation’s pediatrician.” She is a medical geneticist and neonatologist noted for her research on fetal cell microchimerism and prenatal testing. Bianchi had previously been the Natalie V. Zucker Professor of Pediatrics, Obstetrics, and Gynecology at Tufts University School of Medicine and founder and executive director of the Mother Infant Research Institute at Tufts Medical Center. She also has served as Vice Chair for Research in the Department of Pediatrics at the Floating Hospital for Children at Tufts Medical Center.
Rachel Schneerson is a former senior investigator in the Laboratory in Developmental and Molecular Immunity and head of the Section on Bacterial Disease Pathogens and Immunity within the Laboratory at the Eunice Kennedy Shriver National Institute of Child Health and Human Development within the National Institutes of Health. She is best known for her development of the vaccine against bacterial meningitis with her colleague John B. Robbins.
COACH syndrome, also known as Joubert syndrome with hepatic defect, is a rare autosomal recessive genetic disease. The name is an acronym of the defining signs: cerebellar vermis aplasia, oligophrenia, congenital ataxia, coloboma and hepatic fibrosis. The condition is associated with moderate intellectual disability. It falls under the category of a Joubart Syndrome-related disorder (JSRD).
Eric Vilain is a physician-scientist and professor in the fields of Differences of Sex Development (DSDs) and precision medicine. He is the Associate Vice Chancellor for Scientific Affairs at the University of California, Irvine Health Affairs and also the director of the UCI Institute for Clinical and Translational Science. He previously was the director of the Center for Genetic Medicine Research at Children's National Medical Center and the chair of the Department of Genomics and Precision Medicine at the George Washington University School of Medicine & Health Sciences in Washington, D.C. Vilain is a fellow of the American College of Medical Genetics, serves on the International Olympic Committee's Medical Commission, and sits on the Board of Scientific Counselors for the National Institute of Child Health and Human Development (NICHD).
Leonard Abbeduto is a psychologist known for his research on individuals with neurodevelopmental disorders, including Fragile X syndrome, autism spectrum disorder, and Down syndrome, and factors that influence their linguistic development over the lifespan. He is the Tsakopoulos-Vismara Endowed Chair of Psychiatry and Behavioral Sciences at University of California, Davis. He serves as Director of Research at the Medical Investigation of Neurodevelopment Disorders (MIND) Institute, which was launched in 2001. Prior to his affiliation with the University of California, Davis, Abbeduto was the associate director for Behavioral Sciences at the Waisman Center at the University of Wisconsin-Madison.
Alison Nenos Cernich is an American neuropsychologist specializing in traumatic brain injury and computerized neuropsychological assessment. She is the deputy director of the Eunice Kennedy Shriver National Institute of Child Health and Human Development. Cernich was previously deputy director of the Defense Centers of Excellence for Psychological Health and Traumatic Brain Injury, assistant professor of neurology at University of Maryland School of Medicine, and chief of neuropsychology at the VA Maryland Health Care System.
This article incorporates public domain material from websites or documents of the National Institutes of Health.