What Types of Hand Stereotypies are Associated with Rett Syndrome?

Discussion Lady MacBeth and patients with Rett Syndrome (RS) are obviously not alike other than in making similar hand motions. In Shakespeare’s MacBeth (5.1.25-30), Lady MacBeth was driven into madness because of her murderous guilt and tries to wash the blood off her hands as she sleepwalks. Doctor. What is it she does now? Look, how she rubs/ her hands. Gentlewoman. It is an accustomed action with her, to seem thus/ washing her hands. I have known her continue in this/ a quarter of an hour. In 1954, Dr. Andreas Rett observed 2 girls who were also making repetitive handwashing motions and later published a case series in 1966. RS is a neurodevelopmental disorder caused by an X-linked dominant single gene deletion or mutation. The gene is the MECP2 gene which encodes for an epigenetic regulator protein called methyl-CpG protein 2 (MeCP2). Its complete function is still be elucidated but is involved in neurosynapse development and maintenance. The protein is found ubiquitously in the body but in higher concentrations in the brain. MeCP2 is found especially during early development but is also found in adults. RS primarily affects females with an estimated prevalence of 1:10,000-15,000. Males with the mutation have a phenotype with severe neonatal encephalopathy and early death, but some males do survive. Classic RS patients are females who develop normally until ~6-18 months and then have developmental regression, deceleration of head growth and microcephaly, and ...
Source: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news

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The objective of this study is to describe variables of life habits associated with motor skills of children with autism spectrum disorder aged 8-10 years living in the city of Pelotas / RS. A questionnaire about lifestyle was applied and the Test of Gross Motor Development-2 (TGMD-2) was applied to assess motor skills. Independent T-test, ANOVA and Wilcoxon test were used to compare means. The study consisted of 49 individuals (42 males). The results indicate that the higher the level of ASD, the better the motor skills. Children making use of medications have greater deficits in motor skills. Higher scores on motor skill...
Source: Revista Brasileira de Cineantropometria e Desempenho Humano - Category: Sports Medicine Source Type: research
Publication date: Available online 16 October 2019Source: Pharmacology &TherapeuticsAuthor(s): Kazu Nakazawa, Kiran SapkotaAbstractN-methyl-D-aspartate (NMDA) receptor (NMDAR) hypofunction plays a key role in pathophysiology of schizophrenia. Since NMDAR hypofunction has also been reported in autism, Alzheimer’s disease and cognitive dementia, it is crucial to identify the location, timing, and mechanism of NMDAR hypofunction for schizophrenia for better understanding of disease etiology and for novel therapeutic intervention. In this review, we first discuss the shared underlying mechanisms of NMDAR hypofunction...
Source: Pharmacology and Therapeutics - Category: Drugs & Pharmacology Source Type: research
Publication date: Available online 16 October 2019Source: Pharmacological ResearchAuthor(s): Siqi Feng, Huan Wang, Jiali Liu, Jiye AA, Fang Zhou, Guangji WangAbstractKetone bodies are traditionally viewed as metabolic substrates in carbohydrate restriction and are applied in the treatment of epilepsy and other neurodegenerative diseases. Recently, people have paid more attention to its application in the treatment for cancers. Compared to normal cells, cancer cells maintain a higher level of reactive oxygen species (ROS) due to the dysfunctional oxidative phosphorylation and they highly rely on glucose for glycolysis and p...
Source: Pharmacological Research - Category: Drugs & Pharmacology Source Type: research
Source: Journal of Pain Research - Category: Anesthesiology Tags: Journal of Pain Research Source Type: research
Publication date: Available online 16 October 2019Source: Materials Today: ProceedingsAuthor(s): A. Kalaiyarasan, K. Sankar, S. SundaramAbstractBone are most important tissues, consists of raw materials like calcium and phosphorus. They develop rapidly during one of early years and make good themselves. The bone is particular as a linear-elastic, isotropic process and uniform material. Bones are an essential part of the human skeleton. It helps to maintain the softer parts of the body. Trauma is a chief cause of death and disability in both developed and increasing countries. The humanity physical condition association pre...
Source: Materials Today: Proceedings - Category: Materials Science Source Type: research
IJERPH, Vol. 16, Pages 3976: The City Doesn’t Sleep: Community Perceptions of Sleep Deficits and Disparities International Journal of Environmental Research and Public Health doi: 10.3390/ijerph16203976 Authors: John Sonnega Amanda Sonnega Daniel Kruger While sleep research has focused primarily on aspects of the immediate physical environment and behavioral factors, a growing body of evidence suggests that broader social determinants may play an important role in sleep insufficiency. Yet public health education efforts for sleep largely address “sleep hygiene”, with an emphasis on inf...
Source: International Journal of Environmental Research and Public Health - Category: Environmental Health Authors: Tags: Article Source Type: research
“We’re not as healthy as we should be.” That’s what Fitbit CEO and co-founder James Park said at Thursday’s TIME 100 Health Summit, where MSNBC anchor Stephanie Ruhle interviewed him about the company’s future in the health care space, the impact of wearables and just how active Fitbit’s 30 million active users really are. Ruhle talked with Park about Fitbit’s position as one of the first major wearables company to have gone public, one that led the charge in terms of mass market adoption but has lost ground to competitors offering more advanced wearable devices, as well as ...
Source: TIME: Health - Category: Consumer Health News Authors: Tags: Uncategorized fitness HealthSummit19 technology Source Type: news
Publication date: Available online 16 October 2019Source: Molecular and Cellular ProbesAuthor(s): Fengwei Nan, Guibo Sun, Weijie Xie, Tianyuan Ye, Xiao Sun, Ping Zhou, Xi Dong, Jiafu Sun, Mengren Zhang, Xiaobo SunAbstractDiabetic encephalopathy is a severe diabetic complication characterized by cognitive dysfunction and neuropsychiatric disability. Methylglyoxal (MGO), a highly reactive metabolite of hyperglycemia, serves as a major precursor of advanced glycation end products that play key roles in diabetic complications. Ginsenoside Rb1 (abbreviated as Rb1) has received extensive attention due to its potential therapeuti...
Source: Molecular and Cellular Probes - Category: Molecular Biology Source Type: research
Founder of both InTouch Health and Computer Motion, Dr. Yulun Wang is considered one of the fathers of modern surgical robotics. Originally a graduate of University of California, Santa Barbara, Dr. Wang developed AESOP (Automated Endoscopic System f...
Source: Medgadget - Category: Medical Devices Authors: Tags: Exclusive Surgery Source Type: blogs
(Natural News) Are you getting enough sleep every night? If not, it’s high time that you prioritize getting more hours catching those Z’s. American researchers found that losing even 16 minutes of sleep can have negative effects on a person’s daily activities, including increased stress levels and poorer work performance. They published their findings in Sleep...
Source: NaturalNews.com - Category: Consumer Health News Source Type: news
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