PDF Genetics of developmental disabilities

Free download. Book file PDF easily for everyone and every device. You can download and read online Genetics of developmental disabilities file PDF Book only if you are registered here. And also you can download or read online all Book PDF file that related with Genetics of developmental disabilities book. Happy reading Genetics of developmental disabilities Bookeveryone. Download file Free Book PDF Genetics of developmental disabilities at Complete PDF Library. This Book have some digital formats such us :paperbook, ebook, kindle, epub, fb2 and another formats. Here is The CompletePDF Book Library. It's free to register here to get Book file PDF Genetics of developmental disabilities Pocket Guide.

DNA testing can determine a diagnosis for Fragile X, which is a lifelong disorder with no cure, but treatable with behavioral and educational therapies. Isodicentric 15, abbreviated idic 15 , is one of a group of genetic conditions. Most children and adults with idic 15 experience developmental disabilities. These can range from mild to severe and may be accompanied by other neurological, physical, and behavioral problems. Although there are few common physical features, structural differences such as a flat bridge of the nose button nose , folds at the corners of the eyes, and others may be present.

Individuals may also demonstrate hypotonia and seizures. The disorder is diagnosed through chromosomal blood testing and is confirmed by a genetic test called fluorescence in situ hybridization FISH. Therapies such as physical, occupational, and speech therapies along with special education techniques are available to help address many of the symptoms of idic 15 and can help these children to develop to their full potential. For more information, please visit: I. Landau-Kleffner Syndrome LKS is a childhood disorder that is characterized by a progressive loss of the ability to understand and use spoken language, following a period of normal speech development.

LKS occurs most frequently in typically developing children who are between 3 and 7 years of age. It is often accompanied by nighttime seizure activity and is typically diagnosed through a sleep EEG.

Looking for other ways to read this?

Some treatments include medication to control the seizures, corticosteroid therapy to improve language ability, and sign language instruction. Although language recovery has been reported in some cases, it is impossible to predict the outcome of this disorder due to the range of differences in affected individuals and the relative lack of clinical and neurobehavioral research.

Learning disabilities are a group of neurological disorders which become evident in childhood and which are characterized by difficulty learning, sorting, and storing information. Usually affected individuals have with average or above average intelligence. Children with learning disabilities may have one or more difficulties with skills such as listening, speaking, reading, writing, reasoning, or mathematical abilities that interfere with academic performance, achievement and, in some cases, activities of daily living.

Learning disabilities may overlap with other disorders or environmental influences, but are not the direct result of those conditions or influences. Often these disabilities are not identified until a child reaches school age.

Introduction

Performance on standardized tests are usually found to be below that expected for age, schooling, and level of intelligence. Standardized cognitive measures and diagnostic tools in addition to observations from education professionals help to identify areas where these children are experiencing problems. Some children find learning in a regular classroom difficult and LD classes may be recommended to help them receive more specific and intensive teaching. They may require information to be presented in multiple formats and broken down in manageable chunks before they can completely understand it.

Learning disabilities are lifelong, but with proper intervention, training, and strategies, individuals can lead successful, fully functioning lives. For more information, please visit: National Center for Learning Disabilities. Mental retardation is a disability that occurs in childhood characterized by substantial limitations in intellectual functioning and adaptive skills.

What is DEVELOPMENTAL DISABILITY? What does DEVELOPMENTAL DISABILITY mean?

A person with mental retardation may have difficulties with communication, conceptual skills, social skills, self-care, home living, social skills, community use, self-direction, health and safety, functional academics, leisure, and work. Interventional strategies are delivered by providing resource supports and specific strategies so as to promote the development, education, interests, and personal well-being of the affected child, adolescent or adult.

Providing individualized supports can improve personal functioning, promote self-determination and societal inclusion, and improve personal well-being of a person with mental retardation.

Neural tube defects are birth defects that involve the central nervous system. These disorders may present varying degrees of disability, including learning disabilities, social issues, lower extremity paralysis, loss of bowel or bladder control, and hydrocephalus water on the brain , which can produce retardation unless it is surgically treated.

Spina bifida is the most common neural tube defect where the spinal cord does not close over the nerve column during the prenatal period. It may involve loss of sensation and severe muscle weakness of the body below the level of the lesion. Although outcomes vary widely, with new medical treatments and technology, many people with spina bifida can expect to live a normal life, and often have careers, get married, and have families. PKU is an inherited metabolic disorder in which the body cannot metabolize the amino acid phenylalanine that is present in many common foods.

If treatment of the disease is not started within the first few weeks of life, PKU can cause various degrees of mental retardation, seizures, and other neurological problems. Because of the very positive outcome when children are identified and treated early, newborn screening for PKU is carried out in every state in the U.

Dietary restriction of very high protein foods and use of a synthetic formula as a nutritional substitute can reduce or eliminate these problems, thus helping children with PKU to expect normal development and a normal life span. Signs of PWS include hypotonia, global developmental delay evident before age 6, feeding problems in infancy, narrow face, almond-shaped eyes, small-appearing mouth, hypopigmentation, motor planning problems, behavioral problems, sleep disturbances and compulsive eating problems.

Diagnosis is made through genetic and DNA testing. Treatments include food restriction, daily exercise, medication, physical and occupational therapies, speech therapy, growth hormone therapy, and special education services. For more information, please visit: Prader-Willi Syndrome Association. Seizure disorders are neurological disorders that may cause physical convulsions, minor physical signs, thought disturbances, or a combination of symptoms that are the result of uncontrolled electrical activity in the brain.

An individual with a seizure disorder, such as epilepsy, may experience one or more different types and levels of severity of seizure. The condition can develop at any time of life, especially in early childhood, during adolescence and old age. Treatments included seizure-preventing medicines, surgery, ketogenic diet primarily in children , or electrical stimulation of the vagus nerve, a large nerve leading into the brain. For more information, please visit: National Down Syndrome Society. Expressive language disorder is a developmental disorder where a child will have problems expressing him or herself in speech.

Characteristics may include limited vocabulary, difficulty recalling words and producing complex or lengthy sentences.

Developmental disorders: Discovery of new mutations -- ScienceDaily

Children with expressive disorder often start speaking late and experience delays acquiring expressive language. Standardized expressive language and non-verbal intellectual tests, and in certain cases functional assessments, should be conducted if an expressive language disorder is suspected. Expressive language disorders may interfere with academics and social communication. Speech therapy and social skills therapies may benefit children affected by this disorder. For more information, please visit : Medline Expressive Language Disorder. Fragile X Syndrome is a genetic disorder and is the most common form of inherited mental retardation.

It is more common in boys than girls. Individuals with this disorder often have distinctive physical features, such as a long face, large prominent ears and hyperextensible joints. People with Fragile X syndrome may experience some degree of mental retardation or learning disabilities along with speech and language delays.

DNA testing can determine a diagnosis for Fragile X, which is a lifelong disorder with no cure, but treatable with behavioral and educational therapies. Isodicentric 15, abbreviated idic 15 , is one of a group of genetic conditions. Most children and adults with idic 15 experience developmental disabilities. These can range from mild to severe and may be accompanied by other neurological, physical, and behavioral problems. Although there are few common physical features, structural differences such as a flat bridge of the nose button nose , folds at the corners of the eyes, and others may be present.

Individuals may also demonstrate hypotonia and seizures. The disorder is diagnosed through chromosomal blood testing and is confirmed by a genetic test called fluorescence in situ hybridization FISH. Therapies such as physical, occupational, and speech therapies along with special education techniques are available to help address many of the symptoms of idic 15 and can help these children to develop to their full potential. For more information, please visit: I.

Frequently Asked Questions

Landau-Kleffner Syndrome LKS is a childhood disorder that is characterized by a progressive loss of the ability to understand and use spoken language, following a period of normal speech development. LKS occurs most frequently in typically developing children who are between 3 and 7 years of age.

It is often accompanied by nighttime seizure activity and is typically diagnosed through a sleep EEG. Some treatments include medication to control the seizures, corticosteroid therapy to improve language ability, and sign language instruction. Although language recovery has been reported in some cases, it is impossible to predict the outcome of this disorder due to the range of differences in affected individuals and the relative lack of clinical and neurobehavioral research. Learning disabilities are a group of neurological disorders which become evident in childhood and which are characterized by difficulty learning, sorting, and storing information.

Usually affected individuals have with average or above average intelligence.

Children with learning disabilities may have one or more difficulties with skills such as listening, speaking, reading, writing, reasoning, or mathematical abilities that interfere with academic performance, achievement and, in some cases, activities of daily living. Learning disabilities may overlap with other disorders or environmental influences, but are not the direct result of those conditions or influences. Often these disabilities are not identified until a child reaches school age. Performance on standardized tests are usually found to be below that expected for age, schooling, and level of intelligence.

Standardized cognitive measures and diagnostic tools in addition to observations from education professionals help to identify areas where these children are experiencing problems. Some children find learning in a regular classroom difficult and LD classes may be recommended to help them receive more specific and intensive teaching. They may require information to be presented in multiple formats and broken down in manageable chunks before they can completely understand it.

Learning disabilities are lifelong, but with proper intervention, training, and strategies, individuals can lead successful, fully functioning lives. For more information, please visit: National Center for Learning Disabilities. Mental retardation is a disability that occurs in childhood characterized by substantial limitations in intellectual functioning and adaptive skills.

A person with mental retardation may have difficulties with communication, conceptual skills, social skills, self-care, home living, social skills, community use, self-direction, health and safety, functional academics, leisure, and work. Interventional strategies are delivered by providing resource supports and specific strategies so as to promote the development, education, interests, and personal well-being of the affected child, adolescent or adult.

Providing individualized supports can improve personal functioning, promote self-determination and societal inclusion, and improve personal well-being of a person with mental retardation. Neural tube defects are birth defects that involve the central nervous system. These disorders may present varying degrees of disability, including learning disabilities, social issues, lower extremity paralysis, loss of bowel or bladder control, and hydrocephalus water on the brain , which can produce retardation unless it is surgically treated.

Spina bifida is the most common neural tube defect where the spinal cord does not close over the nerve column during the prenatal period. It may involve loss of sensation and severe muscle weakness of the body below the level of the lesion. Although outcomes vary widely, with new medical treatments and technology, many people with spina bifida can expect to live a normal life, and often have careers, get married, and have families. AACC uses Cookies to ensure the best website experience. Continuing without changing Cookie settings assumes you consent to our use of cookies on this device. You can change these settings at any time, but that may impair functionality on our websites.