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Epilepsy-intellectual Disability In Females
Epilepsy-intellectual disability in females also known as PCDH19 gene-related epilepsy or epileptic encephalopathy, early infantile, 9 (EIEE9), is a rare type of epilepsy that affects predominantly females and is characterized by clusters of brief seizures, which start in infancy or early childhood, and is occasionally accompanied by varying degrees of cognitive impairment. The striking pattern of onset seizures at a young age, genetic testing and laboratory results, potential developmental delays or developmental regression and associated disorders, eases diagnosis. The National Institutes of Health Office and Rare Disease Research characterizes PCDH19 gene-related epilepsy as a rare disorder. Although formal epidemiologic data is not available, results from diagnostic screenings indicate that approximately 1 out of 10 girls who have seizure onset before five years of age may have PCDH19 mutations. Signs and symptoms PCDH19 gene-related epilepsy is a highly variable and rare ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
European Journal Of Medical Genetics
The ''European Journal of Medical Genetics'' is a monthly peer-reviewed medical journal covering medical genetics in human and experimental systems. It was established in 1958 as ''Annales de Génétique'', obtaining its current name in 2005. It is published by Elsevier and the editor-in-chief is Alain Verloes (CHU Robert Debré). According to the ''Journal Citation Reports'', the journal has a 2018 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 2.022. References External links * Biology in Europe Medical genetics journals Monthly journals English-language journals Elsevier academic journals Academic journals established in 1958 {{Genetics-journal-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Intellectual Disability
Intellectual disability (ID), also known as general learning disability (in the United Kingdom), and formerly mental retardation (in the United States), Rosa's Law, Pub. L. 111-256124 Stat. 2643(2010).Archive 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 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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
De Novo Gene Birth
''De novo'' gene birth is the process by which new genes evolve from non-coding DNA. '' De novo'' genes represent a subset of novel genes, and may be protein-coding or instead act as RNA genes. The processes that govern ''de novo'' gene birth are not well understood, although several models exist that describe possible mechanisms by which ''de novo'' gene birth may occur. Although ''de novo'' gene birth may have occurred at any point in an organism's evolutionary history, ancient ''de novo'' gene birth events are difficult to detect. Most studies of ''de novo'' genes to date have thus focused on young genes, typically taxonomically restricted genes (TRGs) that are present in a single species or lineage, including so-called orphan genes, defined as genes that lack any identifiable homolog. It is important to note, however, that not all orphan genes arise ''de novo'', and instead may emerge through fairly well characterized mechanisms such as gene duplication (including retropo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PCDH19
Protocadherin 19 is a protein belonging to the protocadherin family, which is part of the large cadherin superfamily of cell-adhesion proteins. The PCDH19 gene encoding the protein is located on the long arm of the X chromosome. Clinical significance Mutations of the PCDH19 gene cause epilepsy-intellectual disability in females. According to a review published in 2021, PCDH19 was one of the six genes most often affected in genetic epilepsies. History The PCDH19 gene that encodes the protein was first cloned Cloning is the process of producing individual organisms with identical genomes, either by natural or artificial means. In nature, some organisms produce clones through asexual reproduction; this reproduction of an organism by itself without ... in 2000 by Nagase et al. In 2008, PCDH19 was identified as the gene responsible for the development of epilepsy-intellectual disability in females, and in the years that have passed since, rare cases were found of males af ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dysautonomia
Dysautonomia, autonomic failure, or autonomic dysfunction is a condition in which the autonomic nervous system (ANS) does not work properly. This condition may affect the functioning of the heart, bladder, intestines, sweat glands, pupils, and blood vessels. Dysautonomia has many causes, not all of which may be classified as neuropathic. A number of conditions can feature dysautonomia, such as Parkinson's disease, multiple system atrophy, dementia with Lewy bodies, Ehlers–Danlos syndromes, autoimmune autonomic ganglionopathy and autonomic neuropathy, HIV/AIDS, mitochondrial cytopathy, pure autonomic failure, autism, and postural orthostatic tachycardia syndrome. Diagnosis is made by functional testing of the ANS, focusing on the affected organ system. Investigations may be performed to identify underlying disease processes that may have led to the development of symptoms or autonomic neuropathy. Symptomatic treatment is available for many symptoms associated with dysau ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sensory Integration Dysfunction
Sensory processing disorder (SPD), formerly known as sensory integration dysfunction, is a condition in which multisensory input is not adequately processed in order to provide appropriate responses to the demands of the environment. Sensory processing disorder is present in many people with dyspraxia, autism spectrum disorder, and attention deficit hyperactivity disorder (ADHD). Individuals with SPD may inadequately process visual, auditory, olfactory (smell), gustatory (taste), tactile (touch), vestibular (balance), proprioception (body awareness), and interoception (internal body senses) sensory stimuli. Sensory integration was defined by occupational therapist Anna Jean Ayres in 1972 as "the neurological process that organizes sensation from one's own body and from the environment and makes it possible to use the body effectively within the environment". Sensory processing disorder has been characterized as the source of significant problems in organizing sensation com ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Language Delay
Language is a structured system of communication that consists of grammar and vocabulary. It is the primary means by which humans convey meaning, both in spoken and signed forms, and may also be conveyed through writing. Human language is characterized by its cultural and historical diversity, with significant variations observed between cultures and across time. Human languages possess the properties of productivity and displacement, which enable the creation of an infinite number of sentences, and the ability to refer to objects, events, and ideas that are not immediately present in the discourse. The use of human language relies on social convention and is acquired through learning. Estimates of the number of human languages in the world vary between and . Precise estimates depend on an arbitrary distinction (dichotomy) established between languages and dialects. Natural languages are spoken, signed, or both; however, any language can be encoded into secondary med ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypotonia
Hypotonia is a state of low muscle tone (the amount of tension or resistance to stretch in a muscle), often involving reduced muscle strength. Hypotonia is not a specific medical disorder, but it is a potential manifestation of many different diseases and disorders that affect motor nerve control by the brain or muscle strength. Hypotonia is a lack of resistance to passive movement whereas muscle weakness results in impaired active movement. Central hypotonia originates from the central nervous system, while peripheral hypotonia is related to problems within the spinal cord, peripheral nerves, and/or skeletal muscles. Severe hypotonia in infancy is commonly known as floppy baby syndrome. Recognizing hypotonia, even in early infancy, is usually relatively straightforward, but medical diagnosis, diagnosing the underlying cause can be difficult and often unsuccessful. The long-term effects of hypotonia on a child's development and later life depend primarily on the severity of the mus ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Obsessive–compulsive Disorder
Obsessive–compulsive disorder (OCD) is a mental disorder in which an individual has intrusive thoughts (an ''obsession'') and feels the need to perform certain routines (''Compulsive behavior, compulsions'') repeatedly to relieve the distress caused by the obsession, to the extent where it impairs general function. Obsessions are persistent unwanted thoughts, mental images, or urges that generate feelings of anxiety, disgust, or discomfort. Some common obsessions include fear of contamination, obsession with symmetry, the fear of acting Blasphemy, blasphemously, sexual obsessions, and the fear of possibly harming others or themselves. Compulsions are repeated actions or routines that occur in response to obsessions to achieve a relief from anxiety. Common compulsions include excessive hand washing, cleaning, counting, ordering, repeating, avoiding triggers, hoarding, neutralizing, seeking assurance, praying, and checking things. OCD can also manifest exclusively through m ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Attention Deficit Hyperactivity Disorder
Attention deficit hyperactivity disorder (ADHD) is a neurodevelopmental disorder characterised by symptoms of inattention, hyperactivity, impulsivity, and emotional dysregulation that are excessive and pervasive, impairing in multiple contexts, and Developmental psychology, developmentally inappropriate. ADHD symptoms arise from executive dysfunction. Impairments resulting from deficits in self-regulation such as time management, Cognitive inhibition, inhibition, task initiation, and sustained attention can include poor professional performance, relationship difficulties, and numerous health risks, collectively predisposing to a diminished Quality of life (healthcare), quality of life and a reduction in life expectancy. As a consequence, the disorder costs society hundreds of billions of US dollars each year, worldwide. It is associated with other mental disorders as well as non-psychiatric disorders, which can cause additional impairment. While ADHD involves a lack of su ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autism Spectrum
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, focused interests, and repetitive behaviors, which may include stimming. Formal 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 non-speaking populations. Increased estimates of autism prevalence since the 1990s are primarily attributed to broader cr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Aggressive Behavior
Aggression is behavior aimed at opposing or attacking something or someone. Though often done with the intent to cause harm, some might channel it into creative and practical outlets. It may occur either reactively or without provocation. In humans, aggression can be caused by various triggers. For example, built-up frustration due to blocked goals or perceived disrespect. Human aggression can be classified into direct and indirect aggression; while the former is characterized by physical or verbal behavior intended to cause harm to someone, the latter is characterized by behavior intended to harm the social relations of an individual or group. In definitions commonly used in the social sciences and behavioral sciences, aggression is an action or response by an individual that delivers something unpleasant to another person. Some definitions include that the individual must intend to harm another person. In an interdisciplinary perspective, aggression is regarded as "an ensemb ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
