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Smith–Magenis Syndrome
Smith–Magenis Syndrome (SMS), also known as 17p- syndrome, is a microdeletion syndrome characterized by an abnormality in the short (p) arm of chromosome 17. It has features including intellectual disability, facial abnormalities, difficulty sleeping, and numerous behavioral problems such as self-harm. Smith–Magenis syndrome affects an estimated between 1 in 15,000 to 1 in 25,000 individuals. Signs and symptoms Facial features of children with Smith–Magenis syndrome include a broad and square face, deep-set eyes, large cheeks, and a prominent jaw, as well as a flat nose bridge (in the young child; as the child ages it becomes more ski-jump shaped). Eyes tend to be deep-set, close together and upwards-slanted. Eyebrows are heavy with lateral extension. The mouth is the most noticeable feature; both upper and lower lips are full, and the mouth is wide. The mouth curves downwards and the upper lip curves outwards, due to a fleshy philtrum. These facial features become more no ... [...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,Rosa's Law, Pub. L. 111-256124 Stat. 2643(2010). is a generalized neurodevelopmental disorder characterized by significantly impaired intellectual and adaptive functioning. It is defined by an IQ under 70, in addition to deficits in two or more adaptive behaviors that affect everyday, general living. Intellectual functions are defined under DSM-V as reasoning, problem‑solving, planning, abstract thinking, judgment, academic learning, and learning from instruction and experience, and practical understanding confirmed by both clinical assessment and standardized tests. Adaptive behavior is defined in terms of conceptual, social, and practical skills involving tasks performed by people in their everyday lives. Intellectual disability is subdivided into syndromic intellectual disability, in which intellectual deficits associated with other medical and be ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
RAI1
RAI1 is a transcription factor associated with Smith–Magenis syndrome when individuals have deletions of the gene and Potocki–Lupski syndrome when individuals have a duplication. It is known as ''retinoic acid induced 1''. See also * Retinoic acid Retinoic acid (used simplified here for all-''trans''-retinoic acid) is a metabolite of vitamin A1 (all-''trans''-retinol) that mediates the functions of vitamin A1 required for growth and development. All-''trans''-retinoic acid is required in ... External links GeneReviews/NIH/NCBI/UW entry on Smith-Magenis Syndrome * {{biochem-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Occupational Therapy
Occupational therapy (OT) is a global healthcare profession. It involves the use of assessment and intervention to develop, recover, or maintain the meaningful activities, or ''occupations'', of individuals, groups, or communities. The field of OT consists of health care practitioners trained and educated to improve mental and physical performance. Occupational therapists specialize in teaching, educating, and supporting participation in any activity that occupies an individual's time. It is an independent health profession sometimes categorized as an allied health profession and consists of occupational therapists (OTs) and occupational therapy assistants (OTAs). While OTs and OTAs have different roles, they both work with people who want to improve their mental and or physical health, disabilities, injuries, or impairments. The American Occupational Therapy Association defines an occupational therapist as someone who "helps people across their lifespan participate in the thing ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Behaviour Therapy
Behaviour therapy or behavioural psychotherapy is a broad term referring to clinical psychotherapy that uses techniques derived from behaviourism and/or cognitive psychology. It looks at specific, learned behaviours and how the environment, or other people's mental states, influences those behaviours, and consists of techniques based on behaviorism’s theory of learning: respondent or operant conditioning. Behaviourists who practice these techniques are either behaviour analysts or cognitive-behavioural therapists. They tend to look for treatment outcomes that are objectively measurable. Behaviour therapy does not involve one specific method, but it has a wide range of techniques that can be used to treat a person's psychological problems.Antony, M.M., & Roemer, E. (2003). Behaviour therapy. In A.S. Gurman & S.B. Messer (Eds.), Essential psychotherapies (2nd ed., pp. 182-223). New York: Guilford. Behavioural psychotherapy is sometimes juxtaposed with cognitive psychotherapy ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Physical Therapy
Physical therapy (PT), also known as physiotherapy, is one of the allied health professions. It is provided by physical therapists who promote, maintain, or restore health through physical examination, diagnosis, management, prognosis, patient education, physical intervention, rehabilitation, disease prevention, and health promotion. Physical therapists are known as physiotherapists in many countries. In addition to clinical practice, other aspects of physical therapist 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 Kingdom, physical therapists have the authority to prescribe medication. Overview Physical therapy addresses the illnesses or injuries that limit a person's abilities to move and perform functional activities in their daily lives. PTs use an individual's history and physic ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mood Disorders
A mood disorder, also known as an affective disorder, is any of a group of conditions of mental and behavioral disorder where a disturbance in the person's mood is the main underlying feature. The classification is in the ''Diagnostic and Statistical Manual of Mental Disorders'' (DSM) and International Classification of Diseases (ICD). Mood disorders fall into seven groups, including; abnormally elevated mood, such as mania or hypomania; depressed mood, of which the best-known and most researched is major depressive disorder (MDD) (alternatively known as clinical depression, unipolar depression, or major depression); and moods which cycle between mania and depression, known as bipolar disorder (BD) (formerly known as manic depression). There are several sub-types of depressive disorders or psychiatric syndromes featuring less severe symptoms such as dysthymic disorder (similar to MDD, but longer lasting and more persistent, though often milder) and cyclothymic disorder (simila ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Attention Deficit Disorder
Attention deficit hyperactivity disorder (ADHD) is a neurodevelopmental disorder characterised by excessive amounts of inattention, hyperactivity, and impulsivity that are pervasive, impairing in multiple contexts, and otherwise Developmental psychology, age-inappropriate. ADHD symptoms arise from executive dysfunction, and emotional dysregulation is often considered a core symptom. In children, problems paying attention may result in poor Academic achievement, school performance. ADHD is associated with other neurodevelopmental and mental disorders as well as some non-psychiatric disorders, which can cause additional impairment, especially in modern society. Although people with ADHD struggle to focus on tasks they are not particularly interested in completing, they are often able to maintain an unusually prolonged and intense level of attention for tasks they do find interesting or rewarding; this is known as hyperfocus. The precise causes of ADHD are unknown in the majo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Attention Deficit/hyperactivity Disorder
Attention deficit hyperactivity disorder (ADHD) is a neurodevelopmental disorder characterised by excessive amounts of inattention, hyperactivity, and impulsivity that are pervasive, impairing in multiple contexts, and otherwise age-inappropriate. ADHD symptoms arise from executive dysfunction, and emotional dysregulation is often considered a core symptom. In children, problems paying attention may result in poor school performance. ADHD is associated with other neurodevelopmental and mental disorders as well as some non-psychiatric disorders, which can cause additional impairment, especially in modern society. Although people with ADHD struggle to focus on tasks they are not particularly interested in completing, they are often able to maintain an unusually prolonged and intense level of attention for tasks they do find interesting or rewarding; this is known as hyperfocus. The precise causes of ADHD are unknown in the majority of cases. Genetic factors play an import ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autism
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] |
Fluorescent In Situ Hybridization
Fluorescence ''in situ'' hybridization (FISH) is a molecular cytogenetic technique that uses fluorescent probes that bind to only particular parts of a nucleic acid sequence with a high degree of sequence complementarity. It was developed by biomedical researchers in the early 1980s to detect and localize the presence or absence of specific DNA sequences on chromosomes. Fluorescence microscopy can be used to find out where the fluorescent probe is bound to the chromosomes. FISH is often used for finding specific features in DNA for use in genetic counseling, medicine, and species identification. FISH can also be used to detect and localize specific RNA targets (mRNA, lncRNA and miRNA) in cells, circulating tumor cells, and tissue samples. In this context, it can help define the spatial-temporal patterns of gene expression within cells and tissues. Probes – RNA and DNA In biology, a probe is a single strand of DNA or RNA that is complementary to a nucleotide sequence ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cytogenetics
Cytogenetics is essentially a branch of genetics, but is also a part of cell biology/cytology (a subdivision of human anatomy), that is concerned with how the chromosomes relate to cell behaviour, particularly to their behaviour during mitosis and meiosis. Techniques used include karyotyping, analysis of G-banded chromosomes, other cytogenetic banding techniques, as well as molecular cytogenetics such as fluorescent ''in situ'' hybridization (FISH) and comparative genomic hybridization (CGH). History Beginnings Chromosomes were first observed in plant cells by Carl Nägeli in 1842. Their behavior in animal (salamander) cells was described by Walther Flemming, the discoverer of mitosis, in 1882. The name was coined by another German anatomist, von Waldeyer in 1888. The next stage took place after the development of genetics in the early 20th century, when it was appreciated that the set of chromosomes (the karyotype) was the carrier of the genes. Levitsky seems to have been t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
