Lujan–Fryns Syndrome
   HOME
*



picture info

Lujan–Fryns Syndrome
Lujan–Fryns syndrome (LFS) is an X-linked genetic disorder that causes mild to moderate intellectual disability and features described as Marfanoid habitus, referring to a group of physical characteristics similar to those found in Marfan syndrome. These features include a tall, thin stature and long, slender limbs. LFS is also associated with psychopathology and behavioral abnormalities, and it exhibits a number of malformations affecting the brain and heart. The disorder is inherited in an X-linked dominant manner, and is attributed to a missense mutation in the '' MED12'' gene. There is currently no treatment or therapy for the underlying ''MED12'' malfunction, and the exact cause of the disorder remains unclear. Signs and symptoms Intellectual disability in LFS usually ranges from mild to moderate, but severe cases have also been reported. A relatively common brain anomaly seen with LFS is agenesis of the corpus callosum, an error of embryonic development in which the corpus ...
[...More Info...]      
[...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]  


picture info

Medical Genetics
Medical genetics is the branch tics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics. In contrast, the study of typically non-medical phenotypes such as the genetics of eye color would be considered part of human genetics, but not necessarily relevant to medical genetics (except in situations such as albinism). ''Genetic medicine'' is a newer term for medical genetics and incorporates areas such as gene therapy, personalized medicine, and the rapidly emerging new medical specialty, predictive medicine. Scope Medical genetics encompasses many different areas, including clinical practice ...
[...More Info...]      
[...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]  


picture info

Human Brain
The human brain is the central organ (anatomy), organ of the human nervous system, and with the spinal cord makes up the central nervous system. The brain consists of the cerebrum, the brainstem and the cerebellum. It controls most of the activities of the human body, body, processing, integrating, and coordinating the information it receives from the Sensory nervous system, sense organs, and making decisions as to the instructions sent to the rest of the body. The brain is contained in, and protected by, the neurocranium, skull bones of the human head, head. The cerebrum, the largest part of the human brain, consists of two cerebral hemispheres. Each hemisphere has an inner core composed of white matter, and an outer surface – the cerebral cortex – composed of grey matter. The cortex has an outer layer, the neocortex, and an inner allocortex. The neocortex is made up of six Cerebral cortex#Layers of neocortex, neuronal layers, while the allocortex has three or four. Each ...
[...More Info...]      
[...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]  


picture info

Shyness
Shyness (also called diffidence) is the feeling of apprehension, lack of comfort, or awkwardness especially when a person is around other people. This commonly occurs in new situations or with unfamiliar people; a shy person may simply opt to avoid these situations. Although shyness can be a characteristic of people who have low self-esteem, the primary defining characteristic of shyness is a fear of what other people will think of a person's behavior. This fear of negative reactions such as being laughed at, humiliated or patronized, criticized or rejected can cause a shy person to retreat. Stronger forms of shyness can be referred to as social anxiety or social phobia. Origins The initial cause of shyness varies. Scientists believe that they have located genetic data supporting the hypothesis that shyness is, at least, partially genetic. However, there is also evidence that suggests the environment in which a person is raised can also be responsible for their shyness. ...
[...More Info...]      
[...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]  




Obsessive Compulsive Disorder
Obsession may refer to: Psychology * Celebrity worship syndrome, obsessive addictive disorder to a celebrity's personal and professional life * Fixation (psychology), a persistent attachment to an object or idea * Idée fixe (psychology), a preoccupation of mind believed to be firmly resistant to any attempt to modify it * Obsessive love, an overwhelming, obsessive desire to possess another person * Obsessive–compulsive disorder, an anxiety disorder characterized by obsessive thoughts Arts, entertainment, and media Films * '' Ossessione'' (1943), an Italian crime drama * ''Obsession'' (1949 film), a British thriller also released as ''The Hidden Room'' * ''Obsession'' (1954 film), a French-language crime drama * ''Obsession'' (1976 film), a psychological thriller/mystery directed by Brian De Palma * ''Obsession'' (1997 film), a Franco-German drama starring Daniel Craig * ''Obsession'' (2022 film), a Nigerian drama * ''Circle of Two'', 1981 Canadian drama also distribute ...
[...More Info...]      
[...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]  


Oppositional Defiant Disorder
Oppositional defiant disorder (ODD) is listed in the DSM-5 under ''Disruptive, impulse-control, and conduct disorders'' and defined as "a pattern of angry/irritable mood, argumentative/defiant behavior, or vindictiveness". This behavior is usually targeted toward peers, parents, teachers, and other authority figures. Unlike conduct disorder (CD), those with ODD do not show patterns of aggression towards people or animals, destruction of property, theft, or deceit. It has certain links to attention deficit hyperactivity disorder (ADHD), and as many as one half of children with ODD also fulfill the diagnostic criteria for ADHD. History Oppositional defiant disorder was first defined in the ''DSM-III'' (1980). Since the introduction of ODD as an independent disorder, the field trials to inform its definition have included predominantly male subjects. Some clinicians have debated whether the diagnostic criteria would be clinically relevant for use with women, and furthermore, so ...
[...More Info...]      
[...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]  


picture info

Aggression
Aggression is overt or covert, often harmful, social interaction with the intention of inflicting damage or other harm upon another individual; although it can be channeled into creative and practical outlets for some. It may occur either reactively or without provocation. In humans, aggression can be caused by various triggers, from frustration due to blocked goals to feeling disrespected. Human aggression can be classified into direct and indirect aggression; whilst 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 reg ...
[...More Info...]      
[...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]  


picture info

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 impo ...
[...More Info...]      
[...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]  


picture info

Hyperactivity
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 impo ...
[...More Info...]      
[...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]  


picture info

Schizophrenia
Schizophrenia is a mental disorder characterized by continuous or relapsing episodes of psychosis. Major symptoms include hallucinations (typically hearing voices), delusions, and disorganized thinking. Other symptoms include social withdrawal, decreased emotional expression, and apathy. Symptoms typically develop gradually, begin during young adulthood, and in many cases never become resolved. There is no objective diagnostic test; diagnosis is based on observed behavior, a history that includes the person's reported experiences, and reports of others familiar with the person. To be diagnosed with schizophrenia, symptoms and functional impairment need to be present for six months ( DSM-5) or one month (ICD-11). Many people with schizophrenia have other mental disorders, especially substance use disorders, depressive disorders, anxiety disorders, and obsessive–compulsive disorder. About 0.3% to 0.7% of people are diagnosed with schizophrenia during their lifetim ...
[...More Info...]      
[...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]  


picture info

Psychosis
Psychosis is a condition of the mind that results in difficulties determining what is real and what is not real. Symptoms may include delusions and hallucinations, among other features. Additional symptoms are incoherent speech and behavior that is inappropriate for a given situation. There may also be sleep problems, social withdrawal, lack of motivation, and difficulties carrying out daily activities. Psychosis can have serious adverse outcomes. As with many psychiatric phenomena, psychosis has several different causes. These include mental illness, such as schizophrenia or schizoaffective disorder, bipolar disorder, sensory deprivation and in rare cases, major depression (psychotic depression). Other causes include: trauma, sleep deprivation, some medical conditions, certain medications, and drugs such as cannabis, hallucinogens, and stimulants. One type, known as postpartum psychosis, can occur after giving birth. The neurotransmitter dopamine is believed to p ...
[...More Info...]      
[...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]  


picture info

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. Historicall ...
[...More Info...]      
[...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]  


picture info

Autism Spectrum
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. Historicall ...
[...More Info...]      
[...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]