Research Paper On Rett's Syndrome

Autism spectrum disorders are a class of developmental disorders that impair social skills, behavior, and communication (Center for Disease Control). ASDs are considered ‘spectrum’ disorders because each patient has a unique experience in the nature and severity of their symptoms (Center for Disease Control). Under the umbrella of ASDs, there are three types of disorders, including Autistic disorder, Asperger Syndrome, and Pervasive Developmental Disorder Not Otherwise Specified (Center for Disease Control). Autistic disorder is the most severe of the three, and patients exhibit significant problems with language, communication, and behavior (Center for Disease Control). Furthermore, people with Autistic disorder often have some intellectual impairment (Center for Disease Control). Asperger Syndrome is a milder form of autistic disorder where patients have some developmental delays, but their language and intellect are not affected (Center for Disease Control). The mildest of the ASDs is the pervasive developmental disorder. These patients usually don’t meet all of the criteria for autistic disorder, but do show some signs of social and communication problems (Center for Disease Control). The number of children diagnosed with ASD is growing, and currently 1 in 88 children fall somewhere on the spectrum (Mari-Bauset et al., 2013). Boys are four times more likely than girls to have autism, and while the exact cause of these disorders is unknown, both genetic and

Social/Communicative Deficits b. Restricted, repetitive behaviors, interests or activities (RRB) c. Qualitative impairment in behavior d. Both A & B ASR • The primary DSM-IV-TR diagnostic difference between autism and Asperger’s disorder is: a. Social interaction b. Language development c. Stereotyped behaviors d. Age of onset ASR • The DSM-IV-TR classifies autism related conditions as members of a group of: a. Pervasive development disorders b. Childhood Disintegrative Disorders c.

There are also five subtypes of the autism disorder. These three are called Classic Autism, Asperger’s Syndrome, Pervasive Developmental Disorder – Not Otherwise Specified (PDD-NOS), Rett’s Syndrome, and Childhood Disintegrative Disorder (2). The mild end of the spectrum is the more manageable side of ASD. Generally speaking, most people with autism fall under the “mild” category (typically called Asperger’s). People on the mild end of the spectrum are also occasionally called “”hiparagpa functioning”. The functionality of those with classic autism ranges from high to low respectively depending on the environment they are living in. Rett’s Syndrome usually afflicts females, and have a functionality range from moderate to low; it should be noted that this disorder develops as the individual ages. Individuals may be diagnosed with PDD-NOS if they meet some of the criteria for autism, but not all. Usually these people are high functioning. The severity and subtype is initially determined at the diagnosis stage, but it can potentially change over the course of several years depending on how dedicated the family is

The DSM-5 notes frequent co-occurrence of other neurodevelopmental disorders. However, if a child’s symptoms are better and more completely explained by ASD, intellectual developmental disorder, global developmental delay or another mental disorder, a diagnosis of SCD cannot be made. The notable absence of restricted and repetitive behaviors is the important in appropriately diagnosing a patient with SCD versus ASD.

To understand the standoff between autism and Asperger syndrome, it is important to understand the common basis of the two disorders as provided by Frith (1991). Autism, which is usually termed as the “parent” disorder that may give rise to Asperger syndrome, is a brain abnormality resulting from brain disease, brain insult, or faults arising from genetic factors. Additionally, it is developmental, meaning that it manifests itself differently depending on factors such as ability or age. Since the disorder affects the brain, it is termed as a

Chapter 1 focuses on autism, Pervasive Developmental Disorders (PDDs) and other Autistic Spectrum Disorders (ASDs). Described in 1943 by Dr. Leo Kanner, autism (also known as autistic disorder, childhood autism, or infantile disorder) is one of the PDDs along with Rett's disorder, Childhood Disintegrative Disorder (CDD) referred to as Heller's syndrome, Asperger disorder, and Pervasive Developmental Disorder Not Otherwise Specified (PDD-NOS). Rett's is a rare genetic abnormality affecting brain development in girls. There are treatments available, but there is no known cure. Asperger disorder affects an individual's ability to socialize and communicate effectively. Individuals with Asperger disorder may be socially awkward and have a compulsive

The most common form of inherited mental retardation (MR) is Fragile X syndrome. The mutation of the gene completely turns off and does not produce the protein needed to make certain all other genes function properly. It is linked to other disorders. There are many characteristics connected to Fragile X. For example, neurological, physical, and psychiatric. The cognitive and behavioral attributes are more significant since they affect how the child will learn and function. Fragile X children are oversensitive to noise and the activity going on nearby. They will often throw tantrums and be aggressive (Braden, M., n.d.). Although, this syndrome does not have a cure these children may be helped with early intervention. Methods of

Rett Syndrome (RTT) is a rare neurodevelopmental disorder caused by a mutation of a gene found on the X chromosome; it have been thought that RTT was exclusively found in females, but a limited number of males with RTT have been reported (Renieri et al, 2003). Unlike females, who have two X chromosomes, males only have one X-chromosome. Because males lack a "backup" copy of the X chromosome that can compensate for a faulty one, RTT is often fatal to males (Katz et al, 2012). Prior research has shown that a mutation in the methyl CpG binding protein 2 (MeCP2) gene predominantly causes RTT (Forbes-Lorman et al, 2014). The MeCP2 gene holds the information for the production of the protein methyl cytosine binding protein 2 (MeCP2), which is

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 child. Before the symptoms begin, however, the child generally appears to grow and develop normally, although there are often subtle abnormalities even in early infancy, such as loss of muscle tone (hypotonia), difficulty feeding, and jerkiness in

Neurological disorders are complex in nature and often the least understood. Given the recent boom in imaging technology and other diagnostic methods, it is now possible to see more clearly into the scope of neurological development and accurately determine the etiology of these diseases. One of such disorders is Autism; a multifactorial condition impairing normal brain development. It affects many aspects of development, including social behavior, cognitive ability and communication skills1 and is commonly diagnosed in children before the age of three1. The symptoms of this condition can vary greatly between individuals; hence its classification as a spectrum disorder. Asperger syndrome, Rett syndrome and pervasive

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. Most girls will live only to their mid twenties. With recent technology and medicine some girls are able to live up to thirty-five. This disease will leave affected females dependent on caregivers or family members for the entirety of their

Rett's disorder (also known as Rett's syndrome) is sometimes mistaken for autism when diagnosed in very young children (and is linked to autism, Asperger's disorder, ADHD, and schizophrenia), but it is much less prevalent and has a distinctive onset and course. The condition occurs primarily in girls who, after early normal development, experience slower-than-expected head growth during the first months of life and a loss of purposeful hand motions between ages five and 30 months. Affected children are usually profoundly mentally retarded and exhibit stereotypical repetitive behaviors such as hand wringing or hand washing. Interest in socialization diminishes during the first few years of the disorder but may resume later in life, despite severe

Rett syndrome (RTT). RTT, identified for the first time in 1966 by Andreas Rett, is a rare genetic neurodevelopmental disorder that occurs predominantly in girls. The clinical features include growth failure, psychomotor regression, characteristic repetitive stereotyped hands movements, and severe problems with language, learning and coordination development. Other signs involve breathing abnormalities, seizures and scoliosis (Leonard H, Cobb S, Downs J. Clinical and biological progress over 50 years in Rett syndrome. Nat Rev Neurol. 2017 Jan;13(1):37-51). In 1999, it has been established that RTT is caused by mutations in the X-linked MECP2 (methyl CpG binding protein 2) gene (Amir et al., Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat. Genet. 23,

241). Autism spectrum disorder (ASD) is a neurodevelopment disorder with many complex ranges. According to DSM-5, “autism spectrum disorder describes patients previously divided among autistic disorder, Asperger’s disorder, childhood disintegrative disorder, Rett’s disorder, and pervasive developmental disorder not otherwise specified. These are no longer considered separate clinical entities. The new criteria include 1) persistent and pervasive deficits in social communication and social interaction and 2) restricted, repetitive patterns of behavior, interests, and activities. As now defined, autism spectrum disorder (ASD) can be subcategorized by the presence or absence of intellectual impairment and/or an associated medical condition. In addition, the identification of three severity levels helps clarify the need for additional social or occupational services. For example, a patient requiring “very substantial support” might display extreme behavioral inflexibility or might possess 20 words of intelligible speech.” (DSM-V, 2015). Berk, states that the brain processing is alternated, by the neurodevelopmental disorder of the synapse and the nerve cells, which are not quite understood on how they are

Before being recently combined under one umbrella diagnosis of ASD there are a few specific subtypes of ASD (“What is Autism,” n.d.). These distinctive subtypes of ASD are autistic disorder, childhood disintegrative disorder (CDD), pervasive developmental disorder-not otherwise specified (PDD-NOS) and Asperger syndrome (“What is Autism,” n.d.). Childhood disintegrative disorder (CDD) was one of the distinctive subtypes of ASD. In addition, Childhood disintegrative disorder is a rare disorder that typically affects males (Ryan, Hughes, Katsiyannis, McDaniel, and Sprinkle, 2011). Childhood disintegrative disorder (CDD) is defined by a period of time where normal development is occurring associated with an increase in the appearance of Autism Spectrum Disorder related symptoms including loss of motor, social, and language skills and these symptoms usually develop between 3 and 4 years old (Ryan, Hughes, Katsiyannis,