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, an...
Source: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news