Shelley Narula, MBBS – Brain Blogger http://brainblogger.com Health and Science Blog Covering Brain Topics Sat, 30 Dec 2017 16:30:10 +0000 en-US hourly 1 https://wordpress.org/?v=4.9.1 George Huntington and the Disease Bearing His Name http://brainblogger.com/2008/09/13/george-huntington-and-the-disease-bearing-his-name/ http://brainblogger.com/2008/09/13/george-huntington-and-the-disease-bearing-his-name/#comments Sat, 13 Sep 2008 17:08:10 +0000 http://brainblogger.com/?p=735 George Huntington was the son and grandson of medical practitioners. He gave rise to a great interest in the origins of this disease which now bears his name.

At the age of 22, the year following his graduation from medical school at Columbia, George Huntington (1850-1916) made his contribution to medical research, publishing his report on a hereditary form of chorea in The Medical and Surgical Reporter in the April 13, 1872 issue. His publication became one of the classical descriptions of neurological disease.

Neuron-likeHuntington dealt with hereditary chorea as a reminiscence of his childhood spent on the eastern extremity of Long Island (New York), where, as the son and grandson of physicians, he recalled patients from his father’s practice. The hereditary chorea, as he called it, was a rare but terrible disease. Its essential features, tersely noted by Dr. Huntington in three short paragraphs, included a “hereditary nature,” a “tendency toward insanity” and “its manifestation as a grave disease in adult life.” He also commented on the grotesque nature of associated abnormal movements and the lack of knowledge of both the cause and cure of the disorder.

Huntington noted that the disorder was confined to “a few families, and has been transmitted to them, an heirloom from generations away back in the dim past.” He also noted that in unaffected offspring, “the thread is broken and the grandchildren and great-grandchildren of the original shakers may rest assured that they are free from the disease.” Huntington in his description states that the first symptoms usually occur at an adult age, and he delineates the development of the chorea:

The movements gradually increase when muscles hitherto unaffected take on the spasmodic action, until every muscle in the body becomes affected (excepting the involuntary ones)…

On mental symptoms he writes:

As the disease progresses the mind becomes more or less impaired, in many accounting to insanity, while in others mind and body gradually fail until death relieves them of their suffering.

Huntington’s disease is of tremendous interest to neuropsychiatry because it has a known cause and manifests in changes in behavior, cognition, and affect. It is known to be caused by a mutation resulting in trinucleotide CAG repeats (polyglutamine) on the Huntington protein encoded on the short arm of chromosome 4. Neuropsychiatric studies of Huntington’s disease may lead to breakthroughs in understanding the neuropathological correlates of psychiatric disorders.

Reference

Neylan, T.C. (2003). Neurodegenerative Disorders: George Huntington’s Description of Hereditary Chorea. Journal of Neuropsychiatry, 15(1), 108-108. DOI: 10.1176/appi.neuropsych.15.1.108

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Martial Arts Program for Children with Epilepsy http://brainblogger.com/2008/01/16/martial-arts-program-for-children-with-epilepsy/ http://brainblogger.com/2008/01/16/martial-arts-program-for-children-with-epilepsy/#respond Wed, 16 Jan 2008 15:13:54 +0000 http://brainblogger.com/2008/01/16/martial-arts-program-for-children-with-epilepsy/ BioPsychoSocial_Health2.jpgPsychosocial consequences in children living with epilepsy are significant. Frequent hospitalization, the unpredictability of seizures, and side effects from treatment can lead to increased stress for the child and the entire family. They can lead to child’s negative evaluation of self and can affect the child’s ability to meet his or her potential in both academic and social settings.

Researchers conducted a pilot study to assess the effects of a martial arts program on children with epilepsy. A series of 10-week, 1 hour/week Kempo karate form classes were offered to children aged 8-16 years. Quality of life, self-concept, and parental anxiety were assessed through questionnaire measures. The two parental questionnaires issued were the Parental Stress Index Short Form, assessed stress in the parent/child dyad, and the Quality of Life in Childhood Epilepsy inventory, assessed a child’s day-to-day life functioning over five domains of health-related quality of life. The one questionnaire completed by the children was the Piers-Harris Children’s Self-Concept Scale 1, an 80-item questionnaire with a yes/no response format, designed to assess self-concept in children and adolescents.

It was interesting to know that karate program was an effective intervention. Positive trends were observed across all domains of health-related quality of life for children with epilepsy, particularly relating to parental perception of the impact of their child’s anxiety, behavior, socialization, attention, and concentration. The parents also perceived a significant improvement in their child’s quality of life relating to memory function. Children participating in the karate program reported an enhanced self-concept with regard to their intellectual and school status. Although the karate program for children with epilepsy may have had a small effect in reducing parental stress, the change was not significant. Attention to parental anxiety and family coping strategies should be a focus of future psychosocial interventions.

Karate training emphasizes self-discipline and self-control. Peer admiration and positive reinforcement through shared achievements in the karate class may also contribute to a more positive sense of self. It simulates a constructive learning environment. The peer group aids in removing the stigma of “other” and normalizing the shared experience of epilepsy. Emphasis on the relationship to a mentor, the karate instructor, encourages positive reinforcement within a supportive learning environment. The significant improvement in intellectual self-concept and school status as reported by the children in the above study prove the potential benefits associated with a karate program.

Reference

Kerry D. Conanta, Amy K. Morganb, David Muzykewicz et al. A karate program for improving self-concept and quality of life in childhood epilepsy: Results of a pilot study. Epilepsy & Behavior 2008;12(1):61-65.

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