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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 girls. 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. 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, physiotherapy, and le ... [...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 ''Labo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Physiotherapy
Physical therapy (PT), also known as physiotherapy, is a healthcare profession, as well as the care provided by physical therapists who promote, maintain, or restore health through patient education, physical intervention, disease prevention, and health promotion. Physical therapist is the term used for such professionals in the United States, and physiotherapist is the term used in many other countries. The career has many specialties including musculoskeletal, orthopedics, cardiopulmonary, neurology, endocrinology, sports medicine, geriatrics, pediatrics, women's health, wound care and electromyography. PTs practice in many settings, both public and private. In addition to clinical practice, other aspects of physical therapy practice include research, education, consultation, and health administration. Physical therapy is provided as a primary care treatment or alongside, or in conjunction with, other medical services. In some jurisdictions, such as the United Ki ... [...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 type of journal ranking. Journals with higher impact factor values are considered more prestigious or important within their field. The Impact Factor of a journa ... of 4.785. References External links * Springer Science+Business Media academic journals Child and adolescent psychiatry journals Academic journals established in 1992 Monthly journals English-language journals Academic journals associated with international l ... [...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 Univers ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autistic
Autism, also known as autism spectrum disorder (ASD), is a neurodevelopmental disorder characterized by differences or difficulties in social communication and interaction, a preference for predictability and routine, sensory processing differences, Special interest (autism), focused interests, and repetitive behaviors, which may include stimming. Formal Diagnosis of autism, diagnosis requires significant challenges in multiple domains of life, with characteristics that are atypical or more pronounced than expected for one's age and sociocultural context.(World Health Organization: International Classification of Diseases version 11 (ICD-11)): https://icd.who.int/browse/2024-01/mms/en#437815624 Motor coordination difficulties are common but not required for diagnosis. Autism is a spectrum disorder, resulting in wide variations in presentation and support needs, such as that between speaking and Nonverbal autism, non-speaking populations. Increased estimates of Epidemiology ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Seizure
A seizure is a sudden, brief disruption of brain activity caused by abnormal, excessive, or synchronous neuronal firing. Depending on the regions of the brain involved, seizures can lead to changes in movement, sensation, behavior, awareness, or consciousness. Symptoms vary widely. Some seizures involve subtle changes, such as brief lapses in attention or awareness (as seen in absence seizures), while others cause generalized convulsions with loss of consciousness ( tonic–clonic seizures). Most seizures last less than two minutes and are followed by a postictal period of confusion, fatigue, or other symptoms. A seizure lasting longer than five minutes is a medical emergency known as status epilepticus. Seizures are classified as provoked, when triggered by a known cause such as fever, head trauma, or metabolic imbalance, or unprovoked, when no immediate trigger is identified. Recurrent unprovoked seizures define the neurological condition epilepsy. Clinical features Seizur ... [...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 . Types The several types of apraxia include: * Apraxia of speech (AOS) is having difficulty planning and coordinating the movements necessary for speech (e.g. potato=totapo, topato).Heilma ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Huda Zoghbi
Huda Yahya Zoghbi (Arabic: هدى الهبري الزغبي ''Hudā al-Hibrī az-Zughbī''; born Huda El-Hibri; 20 June 1954) 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 was the editor of the ''Annual Review of Neuroscience'' from 2018-2024. 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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Physical Therapy
Physical therapy (PT), also known as physiotherapy, is a healthcare profession, as well as the care provided by physical therapists who promote, maintain, or restore health through patient education, physical intervention, disease prevention, and health promotion. Physical therapist is the term used for such professionals in the United States, and physiotherapist is the term used in many other countries. The career has many specialties including musculoskeletal, orthopedics, cardiopulmonary, neurology, endocrinology, sports medicine, geriatrics, pediatrics, women's health, wound care and electromyography. PTs practice in many settings, both public and private. In addition to clinical practice, other aspects of physical therapy practice include research, education, consultation, and health administration. Physical therapy is provided as a primary care treatment or alongside, or in conjunction with, other medical services. In some jurisdictions, such as the United Kin ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Special Education
Special education (also known as special-needs education, aided education, alternative provision, exceptional student education, special ed., SDC, and SPED) is the practice of educating students in a way that accommodates their individual differences, Disability, disabilities, and special needs. This involves the individually planned and systematically monitored arrangement of teaching procedures, adapted equipment and materials, and accessible settings. These interventions are designed to help individuals with special needs achieve a higher level of personal Self-sustainability, self-sufficiency and success in school and in their community, which may not be available if the student were only given access to a Traditional education, typical classroom education. Special education aims to provide accommodated education for disabled students such as learning disability, learning disabilities, learning difficulties (such as dyslexia), communication disorders, emotional and behavi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
X Chromosome
The X chromosome is one of the two sex chromosomes in many organisms, including mammals, and is found in both males and females. It is a part of the XY sex-determination system and XO sex-determination system. The X chromosome was named for its unique properties by early researchers, which resulted in the naming of its counterpart Y chromosome, for the next letter in the alphabet, following its subsequent discovery. Discovery It was first noted that the X chromosome was special in 1890 by Hermann Henking in Leipzig. Henking was studying the testicles of '' Pyrrhocoris'' and noticed that one chromosome did not take part in meiosis. Chromosomes are so named because of their ability to take up staining (''chroma'' in Greek means ''color''). Although the X chromosome could be stained just as well as the others, Henking was unsure whether it was a different class of the object and consequently named it ''X element'', which later became X chromosome after it was established that it w ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Seizures
A seizure is a sudden, brief disruption of brain activity caused by abnormal, excessive, or synchronous neuronal firing. Depending on the regions of the brain involved, seizures can lead to changes in movement, sensation, behavior, awareness, or consciousness. Symptoms vary widely. Some seizures involve subtle changes, such as brief lapses in attention or awareness (as seen in absence seizures), while others cause generalized convulsions with loss of consciousness ( tonic–clonic seizures). Most seizures last less than two minutes and are followed by a postictal period of confusion, fatigue, or other symptoms. A seizure lasting longer than five minutes is a medical emergency known as status epilepticus. Seizures are classified as provoked, when triggered by a known cause such as fever, head trauma, or metabolic imbalance, or unprovoked, when no immediate trigger is identified. Recurrent unprovoked seizures define the neurological condition epilepsy. Clinical features Seizur ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
