Rett’S Syndrome
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1) Rett Syndrome is a rare genetic neurological disorder that is part of the autism spectrum. 2) It primarily affects girls and symptoms usually appear between 6-18 months of age as development regresses. 3) Common symptoms include loss of hand skills and spoken communication, gait abnormalities, seizures, and severe intellectual disabilities.
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Autism is a mental condition characterized by difficulty with social interaction and communication. It is classified into subgroups based on functioning level: Asperger's Syndrome involves good verbal skills but impaired social interaction; Classic Autism involves problems with socializing, communicating, and play by age 3; PDD-NOS is a milder form with some but not all autism symptoms; Rett's Syndrome primarily affects females and involves loss of skills between ages 1-4; and Childhood Disintegrative Disorder involves normal development for 2 years then loss of language and social skills. The level of autism is determined by one's ability to function on the autism spectrum independently.
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This document summarizes key aspects of neuropsychological development from infancy through adolescence, including major developmental milestones, disorders, and treatment approaches. It discusses phases of brain development, Piaget's stages of cognitive development, myelination and executive function development through the teen years. Common childhood neurodevelopmental disorders like learning disabilities, ADHD, autism, and Tourette's syndrome are described. Treatment approaches for these disorders focus on behavioral, educational, social skills, and medical interventions.
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Two immunodeficiency disorders, PNP and ADA deficiency, are associated with purine metabolism defects. PNP deficiency affects only T lymphocytes, causing recurrent infections and developmental delays. ADA deficiency causes accumulation of toxic metabolites, inhibiting lymphocyte development and function and leading to severe combined immunodeficiency (SCID). Gene therapy and stem cell transplantation can help correct these disorders by fixing the mutated genes or replacing defective stem cells.
Autistic disorder
This document discusses autism spectrum disorder (ASD). It defines ASD as a lifelong developmental disability characterized by impairments in social interaction and communication, as well as restricted and repetitive behaviors. The document summarizes key findings about the prevalence and diagnosis of ASD according to the DSM-IV and DSM-5. It also discusses common symptoms, screening tools, potential neurological abnormalities, motor deficits associated with ASD, and the benefits of physical activity programs for individuals with ASD.
Autism
Autism is a spectrum disorder characterized by difficulties in social interaction and communication. It can range from mild to severe. The causes are largely unknown but thought to involve genetic and neurological factors. Diagnosis involves ruling out other conditions and using the DSM criteria. While there is no cure, various therapies aim to improve symptoms such as communication skills and reduce repetitive behaviors.
PDD
This document provides an overview of pervasive developmental disorders (PDD) including autism spectrum disorder, Rett syndrome, childhood disintegrative disorder, Asperger's syndrome, and pervasive developmental disorder not otherwise specified. It discusses the characteristics, causes, clinical features, diagnosis, and management of each disorder. The disorders are characterized by delays in socialization and communication skills. Management involves early intervention, education, behavioral therapies, social skills training, medications, and creating structure and routine.
Research Paper
The document discusses the different types of autism spectrum disorders including Asperger's syndrome, Kanner's syndrome, pervasive developmental disorder, Rett's syndrome, and childhood disintegrative disorder. It describes the characteristics of each type, such as difficulties with social and communication skills, repetitive behaviors, and sensory processing. The causes of autism are not entirely known but are believed to involve genetic and environmental factors. While there is no cure for autism, early intervention and treatment tailored to the individual can help children develop their skills and manage symptoms.
Autism sprecturm disorder
1) Autism is a neurodevelopmental disorder characterized by difficulties in social interaction and communication, as well as restricted and repetitive behaviors. It is part of a spectrum of conditions known as autism spectrum disorder (ASD).
2) ASD is diagnosed based on difficulties in social interaction, communication, and restricted or repetitive behaviors observed before age 3. There are different classifications of ASD including autistic disorder, Asperger's syndrome, and others.
3) Treatment for ASD is multidisciplinary and includes behavioral training, education supports, and sometimes medical interventions. However, there are significant challenges to diagnosis and support for those with ASD in Sri Lanka due to lack of awareness, services, and
Autism
Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, as well as restricted and repetitive behaviors. It is diagnosed based on criteria from the DSM-V. While the exact causes are unknown, genetic and environmental factors are involved. Treatments include applied behavior analysis, speech therapy, and medications to target specific symptoms, though there is no cure. Nursing care focuses on meeting basic needs, behavior modification, communication skills training, ensuring safety, and supporting parents.
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Pervasive developmental disorders (PDDs) are a class of disorders characterized by impairments in social interaction and communication skills, as well as restricted, repetitive behaviors. The document discusses the five PDD diagnoses according to the DSM-IV-TR: Autistic Disorder, Rett's Disorder, Childhood Disintegrative Disorder, Asperger's Disorder, and Pervasive Developmental Disorder Not Otherwise Specified. Treatment approaches mentioned include behavioral therapy, appropriate educational settings, and communication/occupational/sensory therapies.
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- 6. Autism thought to be rare Considered unnecessary for doctors to learn about disorder No cure for disorder Treatments to reduce symptoms Number of children with Autism spectrum disorder has grown Rett’s
- 7. Caused by a gene mutation correct mutation in utero affect neurotransmitters mutation on the MECP-2 gene affects 1 in 10,000 girls why only girls what is in the X chromosomes of girls that allow them to live and boys to die. Rett’s
Editor's Notes
- Autism spectrum disorder has long interested me. A child can seem normal at birth then at about 2-3 years a parent may notice that their child is not developing as they should. There are four disorders in the Autism Spectrum disorder they are Rett’sdisorder,childhood disintegrative disorder,asperger’s syndrome, pervasive development disorder not otherwise specified and autistic disorder.
- All five disorders have similar symptoms. They all have problems with communication both verbal and non-verbal. They also show problems in social interaction such as sharing emotions or hold a conversation. They also have repetitive behaviors like repeating words or actions. Asperger’s syndrome can show these symptoms but have well developed speech and age appropiate self-help skills.
- In childhood disintegrative disorder the child will develop normally until the age of two then shows a loss of previously acquired skills. It could be the loss of bladder control,loss of social interaction the failure to develop peer relationships and loss of communication skills the inability to start and sustain a conversation,
- Pervasive development disorder is an umbrella term doctors use when the child’s symptoms do not fit any other category. Rett’s syndrome affect only girls. The child is born normal and develops normally until the age of six months. At six months the childs head growth regresses and whatever hand skills she may have had at six months is lost. The child develops poor coordinated walk. It is the number one cause of retardation in girls.
- Rett’s syndrome is caused by a gene mutation on the MECP-2 gene found in the X chromosome. It affects only girls. Boys with this disorder die before they are born. Since Rett’s is caused by a mutation is it possible to alter the gene before the baby is born? Why does this disorder affect only girls? I know males carry the X chromosome so I want to know what is in boys’ chromosomes that cause them to die.