child endures lessens and eye contact and communication improve (International Rett Syndrome Foundation, 2014). According to rettsyndrome.org, Rett syndrome is caused by mutations on the X chromosome on a gene called MECP2. There are more than 200 different mutations found on the MECP2 gene. Most of these mutations are found in eight different spots. It strikes all racial and ethnic groups, and occurs worldwide in 1 of every 10,000 to 23,000 female births (Rett Syndrome Foundation, 2014). It is not
Pathology of Rett syndrome: Synopsis and Update”, it states that the disorder starts to be recognizable when the child is between six to eighteen months of age. The affected child will loose their ability to speak and hand movements. Through research, MECP2 is in the X chromosome gene (2006). An estimate of females that suffer from Rett syndrome is 1 in 1,000 and in the United States, it is approximately 16,000 young and adult females that are affected (Rett Syndrome, 2008). In my paper, I will give a
Rett Syndrome The paper that I’m writing is on Rett Syndrome. Rett is a rare and severe ‘girls only” form of autism. What is Rett you ask? Well it is neurodevelopment that is found in girls. If you are diagnosed with it they can feel overwhelmed, there is no cure for this disease. You are normally diagnosed with it in the early years (first 2 years of life). There are 4 stages of Rett 1 being the least dramatic case and 4 being the severe. The disorder was identified by Dr. Andreas Rett in 1966,
hand movements. A woman with a mutation in her MECP2 gene, has a 50% risk with any pregnancy to pass on her X chromosome with the mutation. It is not common for women with Rett syndrome to have children because the severity of the disorder. The mutated gene on the X chromosome that is responsible for causing Rett syndrome is the methyl CpG-binding protein 2, MECP2 gene. The gene makes a protein that controls other genes. When a mutation occurs in the MECP2, the protein it makes does not work properly
Rett Syndrome is a neurological and developmental disorder that affects the nervous system. It occurs almost exclusively in females, but in rare cases it affects males. It is actually the leading cause of severe impairment, mental retardation and developmental regression in girls. Rett syndrome is grouped as a pervasive developmental disorder (PDD) in which conditions are severe and pervasive, and that begins in early life and influences multiple areas of development. It is a developmental disorder
The MECP2 gene makes a protein, also called MECP2, believed to play a pivotal role in silencing, turning off or regulating the activity of other genes. The MECP2 mutation (change in the gene) causes the turn-off/regulatory mechanism to fail, allowing other genes to function abnormally(Rett Syndrome - NORD). Rett syndrome is a genetic
syndrome using human induced pluripotent stem cells. Science Direct Journals, 143(4), Retrieved from http://www.sciencedirect.com/science/article/pii/S0092867410011864 Tropea, D. et al.. (2008). Partial reversal of rett syndrome-like symptoms in mecp2 mutant mice. Proceedings of the National Academy of Sciences of the United States of America, 106(6), Retrieved from http://www.pnas.org/content/106/6/2029.full
Autism, or autism spectrum disorder (ASD), is known as a complex developmental disability. It is a wide-spectrum disorder. This means no two people have exactly the same symptoms. It is “characterized, in varying degrees, by difficulties in social interaction, verbal and nonverbal communication and repetitive behaviors.” (Autism Speaks Inc., 2014) “Children with characteristics of an ASD may have co-occurring conditions, including Fragile X syndrome (which cause mental retardation), tuberous sclerosis
Shahed Al Massri 250 572 285 Dr. Torchia Take Home Exam November 4th, 2014 Question 1 Epigenetic inheritance is defined as the regulatory information passed down from parent to offspring without any changes in the underlying DNA sequence. This process can involve various modifications of histones as well as DNA itself. These types of alterations include acetylation, methylation and phosphorylation. Such changes can regulate expression through a variety of different mechanisms, including
predominantly affects females. Rett syndrome primarily affects areas of expressive language and hand use..Itis a disorder exclusively in girls. This syndrome is caused by a single gene mutation that leads to the underproduction of an important brain protein, MECP2 (methyl CpG binding protein 2).“Rett syndrome causes problems in brain
When people hear the word autism, they think of someone with mental disabilities. Psychology Concepts describes autism as a “complex and poorly understood disorder.” (541) According to the National Institute of Mental Health, autism is defined as “a group of developmental brain disorders, collectively called autism spectrum disorder (ASD)”. There are five different disorders in the spectrum, which include autistic disorder, Asperger’s disorder, pervasive developmental disorder (not otherwise specified)
When every child is born they are born with two sets of chromosomes. 23 chromosomes are from the mother and 23 chromosomes from the father, creating a total of 46 chromosomes for the child. But for some children born today, they are born with chromosome abnormalities. Chromosome abnormalities involve sex chromosomes and are gender specific (O’Neil). With today’s technology and past studies, we are able to determine chromosome abnormalities and the syndromes that are formed by these abnormalities
The term Pervasive Developmental Disorder (PDD) refers a group of disorders that pertain to one’s communication, social, and developmental skills. Symptoms can be detected as early as infancy, as some cases are identified before the age of three. Children or toddlers with PDD may show difficulty relating to others and often have trouble using and understanding language. In addition, they may have unusual behavior patterns and demonstrate resistance during a change in their routine. PDD is a general
New Frontiers In Autism Research Sonia Bathija Biocon-KGI Certificate Program in Applied Life Sciences Summary Autism is a neural development disorder characterized by impaired social interaction and repetitive behaviour. These signs all begin before the child is Three years old. Although there is no permanent cure, there are reported cases of children being recovered. At present no definitive cause has been identified for autism, although genetic and environmental factors are now being considered