Grand Mal Seizures

The absent seizures cause a temporary loss of awareness resulting in a lack in stability in the learning environment. Another type of generalized seizure is the myoclonic spasms where repetitive muscle contractions occur, and infantile spasms in infants under age 1 characterized by a jackknife posture for frequent but short periods. Classic symptoms of generalized seizures such as grand mal include unconsciousness, convulsions and muscle rigidity. Absent seizures produce symptoms such as a brief loss of consciousness. Myoclonic seizures are characterized by sporadic, jerking movements. Clonic symptoms include repetitive jerking movements and tonic symptoms produce muscle stiffness and rigidity. Atonic seizures have a loss of muscle tone.

Seizures occur when abnormal signals from the brain and changes the way the body functions. Many people have seizures but they have different effects on them. Some people have a little shaking of their hands and do not lose consciousness, while others have a lot of shaking and do lose consciousness. While seizures have a range of life changing effects for adults, more needs to be focus on children.

Epilepsy is a medical ailment in which nerve cell activity in the brain is disturbed, causing seizures. Epilepsy consists of many levels of severity; there are staring spells on the lower end, and Grand Mal seizures on the higher end. Cheyenne is on the lower end with staring spells, memory loss, and involuntary talking it’s called Partial Onset Seizures; she has the potential that it can have it turn into Grand Mal seizures at any point in her life. On the path to discovering her epilepsy, it changed her and her family’s lives forever.

A seizure is a disruption of the electrical activity between neurons in the brain. The resulting chemical changes can lead to a surge of electrical activity causing a seizure. Aside from trauma to the brain due to injury, or

Fragile X Syndrome is a genetic condition causing intellectual disability, behavioural and learning challenges and various physical characteristics, it occurs in both genders but effects males more. Also is the most common gene for Autism worldwide, every week in Australia one child is born who is fully affected and 20 children are born who are carriers. It is estimated that 5 per cent of people with a diagnosis of an Autism Spectrum disorder also have Fragile X.

Epilepsy. In epilepsy, the grand mal seizure often begins with a sudden loss of consciousness and fall to the ground. The initial motor signs are a brief flexion of the trunk, an opening of the mouth and eyelids, and upward deviation of the eyes. The arms are elevated and abducted, the elbows semiflexed, and the hands pronated. These are followed by a more protracted extension phase, involving first the back and neck, then the arms and legs. There may be piercing cry as the whole musculature is seized in a spasm and air is forcibly emitted through the closed vocal cords. Since the respiratory muscles are caught up in the tonic spasm, breathing is suspended, and after some seconds, the skin and mucous membranes become cyanotic. The pupils are

Epilepsy and Seizure Disorder: All actions and functions travel to the different parts of the brain much like electrical wiring. The “electricity” moves from one area or wired circuit through another by jumping and traveling from area to area much like electricity Due to abnormal electricity and “jumping” seizures can occur. Epilepsy is where these electoral abnormalities are reoccurring often causing many seizures. The Tonic-Clonic or Grand Mal seizures that CM has is from muscles tightening and relaxing very fast due to the abnormal jumping of electricity in the brain. P. 417

Over the years, more people are becoming aware of Autism Spectrum Disorder, ASD. The growing number of individuals who are affected by ASD have been increasing over the years. This could be do to the new DSM development of what is considered ASD or simply more children are being born with ASD. Either way, ASD is more predominate in our society today. ASD is defined in the DSM 5 as having abnormal social aspects, lack of social skills, non-verbal communications skills, deficits in development, lack of understanding of relationships, and self-stimulation through repetitive behaviors (American Psychiatric Association, 2013). Although these are not all of the symptoms caused by ASD

Fragile X Syndrome effects people of all ages from birth till death, in many different ways. Some people with the syndrome will show signs and symptoms but others may show none. Females often will not show signs or symptoms and the only way you can tell is through testing, but on

Fragile X Syndrome, or FXS, is the most commonly inherited form of mental problems and disabilities globally.

Fragile X Syndrome was identified in the year 1991. This disability affects more males than females. Approximately 1 in 4,000 males are affected, however only 1 in 8,000 females are affected (Lombroso, 2003). Fragile X generates in the FMR1 gene. Fragile X is caused by an excessively repeating tri-nucleotide,

Fragile X Syndrome, also known as FRAXA syndrome, fra(X) syndrome, FXS, marker X syndrome, or Martin Bell syndrome, is a disorder onset by a genetic mutation in the FMR1 gene. This gene produces a protein called FMRP which regulates the production of other proteins and plays a role in the development of synapses, which are specialized connections between nerve cells (National Library of Medicine, 2014). The FMR1 gene has a DNA segment called CGG triple repeat, which is repeated about 5 to 40 times in a typically developing individual. There are two type of mutations associated with Fragile X: A full gene mutation and a gene premutation. In cases of individuals with a full gene mutation, the CGG segment is repeated more than 200 times (National Library of Medicine, 2014).

Fragile X Syndrome, commonly known as FXS, is the most inherited form of mental retardation. From a study conducted by Emory University School of Medicine (2015), at least 1 out of every 4,000 males and 1 out of 8,000 females are affected with this abnormality (Emory University School of Medicine, 2015). At present, new information on how to live with FXS are discovered daily. This is helpful to further expand the current knowledge and methodologies that are attributed to FXS. There is currently no cure for this abnormality. However, there are many areas of control where physicians and other healthcare professionals can provide intervention to improve the quality of life for who are patients diagnosed with this illness. According to Randi and Paul Hagerman (2012), there is still more to learn regarding the characteristics of FXS. Given the broader spectrum of involvement associated with fragile X syndrome, this health concern is far more sensitive compared to how it is being presented in the news report or social media (Hagerman, & Hagerman, 2012, p. 3). The instability caused by FXS affect a significant minority of children. Since this is the most common form of inherited developmental disability, it is often under-diagnosed (Carvajal, & Aldridge, 2011, p. 13). Although much has changed since FXS was first discovered in the 1950s, there is limited awareness regarding this health concern (Carvajal, & Aldridge, 2011, p. 13). The purpose of this research paper is to provide a

Genetic disorder has many diagnostic and common names for example, DMD is also known as Duchenne muscular dystrophy or Becker and pseudohypertrophic muscular dystrophy. DMD is a genetic disease that occurs mostly in boys. According to the “Muscular Dystrophy Association DMD is inherited in an X-linked pattern, because the gene that can carry a DMD-causing mutation is on the X chromosome. The male host inherits an X chromosome from his mother and a Y chromosome from his father, which is what makes him male. The female host inherits two X chromosomes, one from each parent.” (MDM). “The human X chromosome carries regions prone to genomic instability: deletions in the Xp22.31 region, involving the steroid sulfatase gene cause X-linked ichthyosis; rearrangements in the Xp21.2 region are associated with Duchenne or Becker muscular dystrophies (DMD or BMD); and the Xq27.3 unstable region, containing the (CGG) in repeat expansion in the FMR1 gene is associated with fragile X syndrome stated in the article, “A Family with Fragile X Syndrome, Duchenne Muscular Dystrophy and Ichthyosis Transmitted By An Asymptomatic Carrier”(Todorova, A)

In a second type of epilepsy, known as generalized seizure, tonic clonic, grand mal, or convulsion, the whole brain is involved. This type of seizure is often characterized by an involuntary scream, caused by contraction of the muscles that control breathing. As loss of consciousness sets in, the entire body is gripped by a jerking muscular contraction. The face reddens, breathing stops, and the back arches. Then, alternate contractions and relaxations of the muscles throw the body into sometimes violent agitation such that the person may be subject to serious injury. After the convulsion subsides, the person is exhausted and may sleep heavily.