Rett’s Syndrome Kelsey Leroux Child Development CYC 101 Lenore Simbulan October 14, 2016 Rett’s Syndrome Rett’s syndrome is defined by the Ontario Rett’s Syndrome Association (ORSA) as “a neurodevelopmental condition characterized by the loss of the spoken language and hand use, coupled with the development of distinctive hand stereotypies… It is usually caused by a mutation of the MECP2 gene on the x chromosome” (2016). Rett’s syndrome is considered by medical experts as a rare genetic neurological and developmental disorder that affects the way the brain develops causing a progressive inability to use muscles for speech, and eye and body movements. Most babies seem to develop normally until about six to eighteen months old. Rett’s
Even with the high caliber of information provided, Schweikart has a very large underlying bias that is subtly seen in all the chapters. Though despite this Schweikart deserves applause, the information is presented well and the bias can be overlooked when
It is an autosomal recessive lysosomal storage disease (metabolism disorder passed down through families) caused by a deficiency in one of the enzymes needed to break down the glycosaminoglycan heparan sulfate which is found in the extra-cellular matrix and on cell surface glycoproteins. It makes the body unable to properly break down the heparin sulfate sugar chain. The incompletely broken down heparan sulfate remains stored inside cells in the body and begins to build up, causing progressive damage. There are four types of sanflippo syndrome based on the defective gene that encode for the enzyme.
Tay-Sachs is a rare, inherited, metabolic disease that is caused by a defective gene on chromosome 15. This defect causes the body to not make a protein called hexosaminidase which leads to chemicals building up. These chemicals destroy the nerve cells in the brain and the spinal cord. Tay-Sachs is also called GM2 gangliosidosis, HexA deficiency, Hexosaminidase A deficiency, and Hexosaminidase alpha-subunit deficiency. Tay-Sachs is most common in infants and children.
Name:MichaelAidan Mullarkey Formal Outline Directions: Following the instructions, complete each part of the outline below. Make a copy and save it into your drive so you can avoid missing a step. Print your outline for class on F day, 3/7.