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Rett Syndrome
Rett syndrome (RTT) is a genetic disorder that typically becomes apparent after 6–18 months of age and almost exclusively in females. Symptoms include impairments in language and coordination, and repetitive movements. Those affected often have slower growth, difficulty walking, and a smaller head size. Complications of Rett syndrome can include seizures, scoliosis, and sleeping problems. The severity of the condition is variable. Rett syndrome is due to a genetic mutation in the MECP2 gene, on the X chromosome. It almost always occurs as a new mutation, with less than one percent of cases being inherited from a person's parents. It occurs almost exclusively in girls; boys who have a similar mutation typically die shortly after birth. Diagnosis is based on the symptoms and can be confirmed with genetic testing. There is no known cure for Rett syndrome. Treatment is directed at improving symptoms. Anticonvulsants may be used to help with seizures. Special education, ph ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Springer Publishing Company
Springer Publishing Company is an American publishing company of academic journals and books, focusing on the fields of nursing, gerontology, psychology, social work, counseling, public health, and rehabilitation (neuropsychology). It was established in 1951 by Bernhard Springer, a great-grandson of Julius Springer, and is based in Midtown Manhattan, New York City. History Springer Publishing Company was founded in 1950 by Bernhard Springer, the Berlin-born great-grandson of Julius Springer, who founded Springer-Verlag (now Springer Science+Business Media). Springer Publishing's first landmark publications included ''Livestock Health Encyclopedia'' by R. Seiden and the 1952 ''Handbook of Cardiology for Nurses''. The company's books soon branched into other fields, including medicine and psychology. Nursing publications grew rapidly in number, as Modell's ''Drugs in Current Use'', a small annual paperback, sold over 150,000 copies over several editions. Solomon Garb's ''Laborator ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Disorder
A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause, either in a gene or chromosome. The mutation responsible can occur spontaneously before embryonic development (a ''de novo'' mutation), or it can be Heredity, inherited from two parents who are carriers of a faulty gene (autosomal recessive inheritance) or from a parent with the disorder (autosomal dominant inheritance). When the genetic disorder is inherited from one or both parents, it is also classified as a hereditary disease. Some disorders are caused by a mutation on the X chromosome and have X-linked inheritance. Very few disorders are inherited on the Y linkage, Y chromosome or Mitochondrial disease#Causes, mitochondrial DNA (due to t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Science (journal)
''Science'', also widely referred to as ''Science Magazine'', is the peer-reviewed academic journal of the American Association for the Advancement of Science (AAAS) and one of the world's top academic journals. It was first published in 1880, is currently circulated weekly and has a subscriber base of around 130,000. Because institutional subscriptions and online access serve a larger audience, its estimated readership is over 400,000 people. ''Science'' is based in Washington, D.C., United States, with a second office in Cambridge, UK. Contents The major focus of the journal is publishing important original scientific research and research reviews, but ''Science'' also publishes science-related news, opinions on science policy and other matters of interest to scientists and others who are concerned with the wide implications of science and technology. Unlike most scientific journals, which focus on a specific field, ''Science'' and its rival ''Nature (journal), Nature'' c ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
FOXG1
Forkhead box protein G1 is a protein that in humans is encoded by the ''FOXG1'' gene. Function This gene belongs to the forkhead family of transcription factors that is characterized by a distinct forkhead domain. The complete function of this gene has not yet been determined; however, it has been shown to play a role in the development of the brain and telencephalon. Mutations of FOXG1 are the cause of FoxG1 Syndrome. FOXG1 syndrome FoxG1 Syndrome is characterized by microcephaly and brain malformations. It affects most aspects of development and can cause seizures. FOXG1 syndrome is classified as an autism spectrum disorder and was previously considered a variant of Rett syndrome. Interactions FOXG1 has been shown to interact with JARID1B. See also * FOX proteins FOX (forkhead box) proteins are a family of transcription factors that play important roles in regulating the expression of genes involved in cell growth, proliferation, differentiation, and longevity. Man ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CDKL5
CDKL5 is a gene that provides instructions for making a protein called cyclin-dependent kinase-like 5 also known as serine/threonine kinase 9 (STK9) that is essential for normal brain development. Mutations in the gene can cause deficiencies in the protein. The gene regulates neuronal morphology through cytoplasmic signaling and controlling gene expression. The CDKL5 protein acts as a kinase, which is an enzyme that changes the activity of other proteins by adding a cluster of oxygen and phosphorus atoms (a phosphate group) at specific positions. Researchers are currently working to determine which proteins are targeted by the CDKL5 protein. Mutations Mutations in the CDKL5 gene cause CDKL5 deficiency disorder. CDKL5 Deficiency had been thought of as a variant of Rett's Syndrome due to some similarities in the clinical presentation, but it is now known to be an independent clinical entity caused by mutations in a distinct X-linked gene, and is considered separate from Rett Sy ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Clinical Neurophysiology (journal)
''Clinical Neurophysiology'' is a monthly peer reviewed medical journal published by Elsevier. It was established in 1949 as ''Electroencephalography and Clinical Neurophysiology'' and obtained its current title in 1999. The journal covers all aspects of neurophysiology, especially as relating to the pathophysiology underlying diseases of the central and peripheral nervous system. It is the official journal of the International Federation of Clinical Neurophysiology, the Brazilian Society of Clinical Neurophysiology, the Czech Society of Clinical Neurophysiology, the Italian Clinical Neurophysiology Society, and the International Society of Intraoperative Neurophysiology. Abstracting and indexing The journal is abstracted and indexed in: According to the ''Journal Citation Reports'', the journal has a 2017 impact factor The impact factor (IF) or journal impact factor (JIF) of an academic journal is a scientometric index calculated by Clarivate that reflects the yearly mea ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
European Child & Adolescent Psychiatry
''European Child & Adolescent Psychiatry'' is a monthly peer-reviewed medical journal covering child and adolescent psychiatry. It was established in 1992 and is published by Springer Science+Business Media on behalf of the European Society for Child and Adolescent Psychiatry, of which it is the official journal. The editor-in-chief is Johannes Hebebrand (University of Duisburg-Essen). According to the ''Journal Citation Reports'', the journal has a 2020 impact factor The impact factor (IF) or journal impact factor (JIF) of an academic journal is a scientometric index calculated by Clarivate that reflects the yearly mean number of citations of articles published in the last two years in a given journal, as i ... of 4.785. References External links * Springer Science+Business Media academic journals Child and adolescent psychiatry journals Publications established in 1992 Monthly journals English-language journals Academic journals associated with international learne ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Michele Zappella
Michele Zappella (born 4 March 1936) is an Italian psychiatrist and scholar of Child Neuropsychiatry. He is a native of Viareggio, Italy. Professional background Zappella graduated in 1960 in Medicine and Surgery in Rome, Italy. He initially relocated to London, where he worked with the Fountain Hospital of London from 1961 to 1963. He then moved back to Rome, where he worked in the medical field and specialized in Pediatrics. As winner of a Fulbright grant for the United States, he became a Fellow of Neurology in the Department of Child Neurology at Children's Hospital in Washington D.C., serving there from 1964 to 1965. In 1966, he moved to Pisa, Italy, where he specialized first in Child Neuropsychiatry and then, in 1968, in Nervous and Mental Diseases. In 1970 he became Lecturer in Mental Health. He was head of the Department of Child Neuropsychiatry of Siena Hospital from 1973 to 2006. , he is teaching Child Neuropsychiatry in the Schools of Specialization of the Univer ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autistic
The autism spectrum, often referred to as just autism or in the context of a professional diagnosis autism spectrum disorder (ASD) or autism spectrum condition (ASC), is a neurodevelopmental condition (or conditions) characterized by difficulties in social interaction, verbal and nonverbal communication, and the presence of repetitive behavior and restricted interests. Other common signs include unusual responses to sensory stimuli. Autism is generally understood as a ''spectrum disorder'', which means that it can manifest differently in each person: any given autistic individual is likely to show some, but not all, of the characteristics associated with it, and the person may exhibit them to varying degrees. Some autistic people remain nonspeaking over the course of their lifespan, while others have relatively unimpaired spoken language. There is large variation in the level of support people require, and the same person may present differently at varying times. Historically, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Seizure
An epileptic seizure, informally known as a seizure, is a period of symptoms due to abnormally excessive or synchronous neuronal activity in the brain. Outward effects vary from uncontrolled shaking movements involving much of the body with loss of consciousness ( tonic-clonic seizure), to shaking movements involving only part of the body with variable levels of consciousness (focal seizure), to a subtle momentary loss of awareness ( absence seizure). Most of the time these episodes last less than two minutes and it takes some time to return to normal. Loss of bladder control may occur. Seizures may be provoked and unprovoked. Provoked seizures are due to a temporary event such as low blood sugar, alcohol withdrawal, abusing alcohol together with prescription medication, low blood sodium, fever, brain infection, or concussion. Unprovoked seizures occur without a known or fixable cause such that ongoing seizures are likely. Unprovoked seizures may be exacerbated by stress or sl ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Apraxia
Apraxia is a motor disorder caused by damage to the brain (specifically the posterior parietal cortex or corpus callosum), which causes difficulty with motor planning to perform tasks or movements. The nature of the damage determines the disorder's severity, and the absence of sensory loss or paralysis helps to explain the level of difficulty. Children may be born with apraxia; its cause is unknown, and symptoms are usually noticed in the early stages of development. Apraxia occurring later in life, known as ''acquired apraxia'', is typically caused by traumatic brain injury, stroke, dementia, Alzheimer's disease, brain tumor, or other neurodegenerative disorders. The multiple types of apraxia are categorized by the specific ability and/or body part affected. The term "apraxia" comes from the Greek ἀ- ''a-'' ("without") and πρᾶξις ''praxis'' ("action"). Types The several types of apraxia include: * Apraxia of speech (AOS) is having difficulty planning and coordinating the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Huda Zoghbi
Huda Yahya Zoghbi (Arabic: هدى الهبري الزغبي ''Hudā al-Hibrī az-Zughbī''; born 1954), born Huda El-Hibri, is a Lebanese-born American geneticist, and a professor at the Departments of Molecular and Human Genetics, Neuroscience and Neurology at the Baylor College of Medicine. She is the director of the Jan and Dan Duncan Neurological Research Institute. She became the editor of the ''Annual Review of Neuroscience'' as of 2018. Her work helped elucidate the genes and genetic mechanisms responsible for a number of devastating neurological disorders, such as Rett syndrome and Spinocerebellar ataxia type 1. Zoghbi's discoveries have provided new ways of thinking about other neurological disorders such as Parkinson's disease, Alzheimer's, autism and intellectual disability, which could lead to new therapeutics and better, more efficient treatments. In 2017, she was awarded the Canada Gairdner International Award and the Breakthrough Prize in Life Sciences. Early lif ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
