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16p11.2 Deletion Syndrome
16p11.2 deletion syndrome is a rare genetic condition caused by microdeletion on the short arm of chromosome 16. Most affected individuals experience global developmental delay and intellectual disability, as well as childhood-onset obesity. 16p11.2 deletion is estimated to account for approximately 1% of autism spectrum disorder cases. Signs and symptoms Developmental and behavioral The most commonly observed features of 16p11.2 deletion syndrome are global developmental delay and psychiatric or behavioral issues, though severity varies significantly. Most people with the deletion don't have intellectual disability, but many have learning disabilities. The average IQ of individuals with 16p11.2 deletion syndrome is approximately 2 standard deviations below that of family members without the deletion. Many have language disorders and motor speech disorders including dysarthria and apraxia. Half of affected individuals have at least one psychiatric or behavioral diagn ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Motor Speech Disorders
Motor speech disorders are a class of speech disorders that disturb the body's natural ability to speech, speak due to neurologic impairments. These neurologic impairments make it difficult for individuals with motor speech disorders to plan, program, control, coordinate, and execute speech productions.Duffy, J. R. (2013). Motor speech disorders (3rd ed.)St. Louis, MO: Elsevier Mosby. Disturbances to the individual's natural ability to speak vary in their etiology based on the integrity and integration of cognitive, neuromuscular, and Human musculoskeletal system, musculoskeletal activities. Speaking is an act dependent on thought and timed execution of airflow and oral motor / oral placement of the lips, tongue, and jaw that can be disrupted by weakness in oral musculature (dysarthria) or an inability to execute the motor movements needed for specific speech sound production (apraxia of speech or developmental verbal dyspraxia). Such deficits can be related to pathology of the ner ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Motor Speech Disorders
Motor speech disorders are a class of speech disorders that disturb the body's natural ability to speech, speak due to neurologic impairments. These neurologic impairments make it difficult for individuals with motor speech disorders to plan, program, control, coordinate, and execute speech productions.Duffy, J. R. (2013). Motor speech disorders (3rd ed.)St. Louis, MO: Elsevier Mosby. Disturbances to the individual's natural ability to speak vary in their etiology based on the integrity and integration of cognitive, neuromuscular, and Human musculoskeletal system, musculoskeletal activities. Speaking is an act dependent on thought and timed execution of airflow and oral motor / oral placement of the lips, tongue, and jaw that can be disrupted by weakness in oral musculature (dysarthria) or an inability to execute the motor movements needed for specific speech sound production (apraxia of speech or developmental verbal dyspraxia). Such deficits can be related to pathology of the ner ... [...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 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 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 muscle weakness and the na ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gait Abnormality
Gait abnormality is a deviation from normal walking (gait). Watching a patient walk is the most important part of the neurological examination. Normal gait requires that many systems, including strength, sensation and coordination, function in an integrated fashion. Many common problems in the nervous system and musculoskeletal system will show up in the way a person walks. Presentation and causes Patients with musculoskeletal pain, weakness or limited range of motion often present conditions such as Trendelenburg's sign, limping, myopathic gait and antalgic gait. Patients who have peripheral neuropathy also experience numbness and tingling in their hands and feet. This can cause ambulation impairment, such as trouble climbing stairs or maintaining balance. Gait abnormality is also common in persons with nervous system problems such as cauda equina syndrome, multiple sclerosis, parkinson's disease, alzheimer's disease, vitamin B12 deficiency, myasthenia gravis, normal pressu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hyporeflexia
Hyporeflexia is the reduction or absence of normal bodily reflexes (areflexia). It can be detected through the use of a reflex hammer and is the opposite of hyperreflexia. Hyporeflexia is generally associated with a deficit in the lower motor neurons (at the alpha motor neurons from spinal cord to muscle), whereas hyperreflexia is often attributed to lesions in the upper motor neurons (along the long, motor tracts from the brain). The upper motor neurons are thought to inhibit the reflex arc, which is formed by sensory neurons from intrafusal fibers of muscles, lower motor neurons (including alpha and gamma motor fibers) and appurtenant interneurons. Therefore, damage to lower motor neurons will subsequently result in hyporeflexia and/or areflexia. In spinal shock, which is commonly seen in the transection of the spinal cord (Spinal cord injury), areflexia can transiently occur below the level of the lesion and can later become hyperreflexic. Cases of severe muscle atrophy or de ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Magnetic Resonance Imaging Of The Brain
Magnetic resonance imaging of the brain uses magnetic resonance imaging (MRI) to produce high quality two-dimensional or three-dimensional images of the brain and brainstem as well as the cerebellum without the use of ionizing radiation (X-rays) or radioactive tracers. History The first MR images of a human brain were obtained in 1978 by two groups of researchers at EMI Laboratories led by Ian Robert Young and Hugh Clow. In 1986, Charles L. Dumoulin and Howard R. Hart at General Electric developed MR angiography, and Denis Le Bihan obtained the first images and later patented diffusion MRI. In 1988, Arno Villringer and colleagues demonstrated that susceptibility contrast agents may be employed in perfusion MRI. In 1990, Seiji Ogawa at AT&T Bell labs recognized that oxygen-depleted blood with dHb was attracted to a magnetic field, and discovered the technique that underlies Functional Magnetic Resonance Imaging (fMRI). In the early 1980s to the early 1990s, 'Jedi' helmets, inspire ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Computed Tomography Of The Head
Computed tomography of the head uses a series of X-rays in a CT scan of the human head, head taken from many different directions; the resulting data is transformed into a series of cross sections of the brain using a computer program. CT images of the head are used to investigate and diagnose Acquired brain injury, brain injuries and other neurological conditions, as well as other conditions involving the skull or Paranasal sinuses, sinuses; it used to guide some brain surgery procedures as well. CT scans expose the person getting them to ionizing radiation which has a risk of eventually causing cancer; some people have allergic reactions to contrast agents that are used in some CT procedures. Uses Computed tomography (CT) has become the diagnostic modality of choice for head trauma due to its accuracy, reliability, safety, and wide availability. The changes in microcirculation, impaired auto-regulation, cerebral edema, and axonal injury start as soon as head injury occurs and ma ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Electroencephalography
Electroencephalography (EEG) is a method to record an electrogram of the spontaneous electrical activity of the brain. The biosignals detected by EEG have been shown to represent the postsynaptic potentials of pyramidal neurons in the neocortex and allocortex. It is typically non-invasive, with the EEG electrodes placed along the scalp (commonly called "scalp EEG") using the International 10-20 system, or variations of it. Electrocorticography, involving surgical placement of electrodes, is sometimes called " intracranial EEG". Clinical interpretation of EEG recordings is most often performed by visual inspection of the tracing or quantitative EEG analysis. Voltage fluctuations measured by the EEG bioamplifier and electrodes allow the evaluation of normal brain activity. As the electrical activity monitored by EEG originates in neurons in the underlying brain tissue, the recordings made by the electrodes on the surface of the scalp vary in accordance with their orientation and ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Absence Seizure
Absence seizures are one of several kinds of generalized seizures. These seizures are sometimes referred to as petit mal seizures (from the French for "little illness", a term dated in the late 18th century). Absence seizures are characterized by a brief loss and return of consciousness, generally not followed by a period of lethargy (i.e. without a notable postictal state). Absence seizure is very common in children. It affects both sides of the brain. Epidemiology Absence seizures affect between 0.7 and 4.6 per 100,000 in the general population and 6% to 8% in children younger than 15 years. Childhood absence seizures account for 10% to 17% of all absence seizures. Onset is between 4 and 10 years and peaks at 5 to 7 years. It is more common in girls than in boys. Etiology An absence seizure is specifically caused by multifactorial inheritance. The voltage-gated T-type calcium channel is regulated by GABRG2, GABRG3, and CACNA1A2 genes. Inheritance of these genes is involved in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Focal Seizure
Focal seizures (also called partial seizures and localized seizures) are seizures which affect initially only one hemisphere of the brain. The brain is divided into two hemispheres, each consisting of four lobes – the frontal, temporal, parietal and occipital lobes. A focal seizure is generated in and affects just one part of the brain – a whole hemisphere or part of a lobe. Symptoms will vary according to where the seizure occurs. When seizures occur in the frontal lobe the patient may experience a wave-like sensation in the head. When seizures occur in the temporal lobe, a feeling of déjà vu may be experienced. When seizures are localized to the parietal lobe, a numbness or tingling may occur. With seizures occurring in the occipital lobe, visual disturbances or hallucinations have been reported. , Epilepsy S ... [...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] |
