Rett syndrome

Rett syndrome (RTT) is a rare random brain & nervous system disorder that only affects girls due to it being an X-linked mutation and although it is genetic, it is not hereditary; it rarely affects boys, when it does the symptoms are more severe and the “babies rarely live past birth” (Bhandari, 2017). The babies usually go through a normal pregnancy and start to show symptoms after the first six months; they become more prominent at “12 and 18 months, and they can be sudden or progress slowly.”

Rett syndrome is defined as “A progressive neurodevelopmental disorder mainly caused by mutations in the gene encoding the methyl-CpG-binding protein 2 ” - Cortealzo et al(2013)This condition mainly targets females however in rare cases males can also develop it. Onset of classic Rett syndrome usually occurs during infancy, specifically between the ages of six to eighteen months. Numerous manifestations take place including motor, as well as social impairment, while microcephaly is more commonly

who was diagnosed with Rett syndrome? First, you have to know what it is. Rett syndrome is a genetic disease that causes the inability to use muscles used for movement and affects their ability to speak. Females are the only ones that can contract the disease. Every nine minutes, one girl is born with Rett syndrome. Although Rett disease is a well known disease, it wasn’t always like that. A neurodevelopmental pediatrician, Andreas Rett, was the first to recognize the syndrome and promoting awareness

Rett Syndrome Abstract Rett syndrome is considered one of the autism spectrum disorders. Rett syndrome is a developmental disability disorder resulting in severe mental and physical deficits in female children. Rett syndrome is grouped as a pervasive developmental disorder (PDD) in which conditions are severe and pervasive, and that begin in early life and influence multiple areas of development. Rett syndrome, including the age of onset and the severity of symptoms, varies from child to

Rett Syndrome is an extremely rare genetic disease that causes developmental and nervous system problems. Rett typically appears in girls. It is hardly inherited, and if it is it passed on by female carriers. Rett Syndrome unfortunately has no cure. In the majority of Rett Syndrome cases, it is caused by a mutation in a single gene. In 1999, it was discovered that mutation within the Methylcytosine-binding protein 2 is what eventually lead to Rett Syndrome. This gene makes a protein that is extremely

Introduction In a neurodevelopmental disorder like Rett syndrome, there is a very normal period of development followed by gradual regression period. This disorder is caused by an MECP2 (methyl CpG binding protein 2) mutation on the X chromosome. Since this gene was only discovered in the last twenty years, there is still a great deal of information that needs to be understood about the regressive nature of Rett syndrome. It is characterized by this sudden regression that occurs in four stages

the surface of how to describe the disorder that is Rett Syndrome. Symptoms Rett Syndrome is

Rett Syndrome is a neurodevelopmental disorder often misdiagnosed as autism, cerebral palsy or a developmental disorder. Rett Syndrome affects girls and is characterized by normal early growth and development followed by a slowing of development and loss of hand skills, acquired speech, and slowing of head growth. It affects one in every 10,000 to 15,000 live female births and all races and ethnic groups. Rett Syndrome is not inherited or passed through generations, most cases are considered spontaneous

Rett syndrome (RTT) was first described by Andreas Rett in 1966 and thereafter by Bengt Hagberg and colleagues in 1983.[1, 2] RTT is one of a group of neurodevelopmental disorders most often caused by de novo mutations in the X-linked methyl-CpG binding protein 2 gene, MECP2.[3, 4] RTT appears to affect almost exclusively females and the frequency is 1/10,000–15,000 live births and isusually the result of dominantly acting de novo mutations in MECP2. [2, 3, 5, 6] Females have two X chromosomes, and

Rett Syndrome (RTT) usually manifests as a severely debilitating neurodevelopmental disorder. This genetic disorder was once classified in the Diagnostic Statistical Manual (DSM IV and DSM IV-TR) as a part of Autism because many of the initial signs of the disorder, such as loss of receptive and expressive language skills, social/pragmatic skills, and stereotypical hand movements are traits expected to be seen in someone with Autism. However, there are key differences between the two disorders, namely