Disability
Page 3
Rett Syndrome
What is Rett syndrome
Rett syndrome is a neurological and developmental disorder that mostly occurs in females. Infants with Rett syndrome seem to grow and develop normally at first, but then stop developing and even lose skills and abilities. For instance, they stop talking even though they used to say certain words. They lose their ability to walk properly.
They stop using their hands to do things and often develop stereotyped hand movements, such as wringing, clapping, or patting their hands. Rett syndrome is considered one of the autism spectrum disorders. Most cases of Rett syndrome are caused by a mutation on the MECP2 gene, which is found on the X chromosome. For more information on the MECP2 gene, see the What causes Rett Syndrome? Section of NICHD’s Rett Syndrome publication.
What are the symptoms of Rett syndrome?
Beginning between 3 months and 3 years of age, most children with Rett syndrome start to show some of the following symptoms:
Loss of purposeful hand movements, such as grasping with fingers, reaching for things, or touching things on purpose
Loss of speech
Balance and coordination problems, including losing the ability to walk in many cases
Stereotypic hand movements, such as hand wringing
Breathing problems, such as hyperventilation and breath holding, or apnea when awake
Anxiety and social-behavioral problems
Intellectual disability/mental retardation
There are a number of other problems common among those who have Rett syndrome. But having these problems is not necessary to get a diagnosis of Rett syndrome. These problems can include:
Scoliosis, a curving of the spine that occurs in approximately 80 percent of girls with Rett syndrome
Seizures
Constipation and gastro-esophageal reflux
Cardiac or heart problems, specifically problems with the rhythm of their heartbeat
Problems feeding themselves, trouble swallowing and chewing
Problems with sleep, specifically disrupted sleep patterns at night and an increase in total and daytime sleep.
What is the usual course of Rett syndrome?
Health care providers view the onset of Rett syndrome symptoms in four stages:
Early Onset Phase – Development stalls or stops.
Rapid Destructive Phase – The child loses skills (regresses) quickly. Purposeful hand movements and speech are usually the first skills lost.
Plateau Phase – Regression slows, and other problems may seem to lessen or improve.
Most people with Rett syndrome spend most of their lives in stage 3.
Late Motor Deterioration Phase – Individuals may become stiff or lose muscle tone; some may become immobile.
Most girls with Rett syndrome live until adulthood.
They will usually need care and assistance throughout their lives
What is the treatment for Rett syndrome?
There is currently no cure for Rett syndrome. However, girls can be treated for some of the problems associated with the condition. These treatments generally aim to slow the loss of abilities, improve or preserve movement, and encourage communication and social contact.
People with Rett syndrome often benefit from a team approach to care, in which many kinds of health care providers play a role, along with family members. Members of this team may include:
Physical therapists, who can help patients improve or maintain mobility and balance and reduce misshapen back and limbs
Occupational therapists, which can help patients improve or maintain use of their hands and reduce stereotypic hand movements.
Speech-language therapists, who can help patients use non-verbal ways of communication and improve social interaction.
Other options, such as medication (such as for constipation or heart problems) or surgery (to correct spine curvature or correct heart defects) are also effective for treating some of the symptoms of Rett syndrome.
Resources for Down Syndrome
Down syndrome
Down syndrome is a genetic defect caused by abnormal cell division in the egg, sperm, or fertilized egg. This results in an extra or irregular chromosome in some or all of the body's cells, causing varying levels of cognitive disability (mental retardation) and physical problems.
Down syndrome is also called trisomy 21, for the specific chromosome that has the abnormality.
A person with Down syndrome has three copies of chromosome 21; normally, a person has two copies. Down syndrome usually can be detected during pregnancy or soon after birth. Fetal ultrasounds, chromosomal studies, and a baby's appearance can all be used to make a diagnosis. Babies usually have distinctive facial characteristics, such as upward-sloping eyes and a flattened nose. People with Down syndrome have an increased risk of being born with or developing health problems.
For example, some babies with Down syndrome are born with heart, intestinal, ear, or respiratory defects. These health conditions often lead to other problems, such as respiratory infections, sleep apnea, or hearing problems. Other health issues, such as vision trouble or problems with thyroid function, can also develop. Children with Down syndrome grow and develop more slowly than other children. However, most are able to attend school, play sports, socialize, and enjoy active lifestyles.
Unless their disabilities are severe, adults with Down syndrome can care for most of their own needs. Many people with Down syndrome live into their 50s and some into their 60s or older.
Administration on Developmental Disabilities
Administration for Children and Families
U.S. Department of Health and Human Services
Mail Stop: HHH 300F
370 L’Enfant Promenade S.W.
Washington, DC 20447
(202) 690-6590
American Speech, Language and Hearing Association
10801 Rockville Pike
Rockville, MD 20852
1-800-638-8255 or 1-888-321-ASHA
Learning Disabilities Association of America
4156 Library Road
Pittsburgh, PA 15234-1349
(412) 341-1515 or 1-888-300-6710
March of Dimes
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
1-888-MODIMES (1-888-663-4637)
National Down Syndrome Congress
1370 Center Drive, Suite 102
Atlanta, GA 30338
1-800-232-6372
(770) 604-9500
National Down Syndrome Society
666 Broadway
New York, NY 10012
1-800-221-4602
(212) 460-9330
National Information Center for Children and Youth with Disabilities
P.O. Box 1492
Washington, DC 20013-1492
1-800-695-0285
(202) 884-8200
Mid-Atlantic Regional Human Genetics Network (MARHGN)
(genetic counseling)
Curtis Coughlin II, MS, MARHGN Coordinator
MARGHN c/o Christiana Health Care Services
Genetics Room 1988
4755 Ogletown-Stanton Road
P.O. Box 6001
Newark, DE 19718
(302) 733-6732
National Society of Genetic Counselors
233 Canterbury Drive
Wallingford, PA 19086-6617
(610) 872-7608
The Arc of the United States
1010 Wayne Avenue, Suite 650
Silver Spring, MD 20910
(301) 565-3842
(301) 565-3843 - Fax
Trisomy 18
Trisomy 18 is a genetic defect related to the presence of an extra chromosome 18 caused by a problem that occurs when cells divide in the egg, sperm, or fertilized egg.
The extra chromosome causes the fetus to develop abnormally with a number of physical and mental problems. Trisomy 18 is also called Edward's syndrome. It is the second most common trisomy condition. (Down syndrome is the most common.) A fetus with trisomy 18 has three copies of chromosome 18. Trisomy 18 can be identified during pregnancy.
Doctors can do prenatal tests and fetal ultrasounds to screen for problems, and they can do chromosome tests to diagnose trisomy 18. Most fetuses with trisomy 18 do not survive to birth, but some are born and live a couple of months to a couple of years.
Babies born with trisomy 18 can have many physical problems, including heart and kidney problems, a small head with low-set ears, a chest with an unusual shape, and crossed legs. They also have severe mental retardation.
Tay-Sachs disease
Tay-Sachs is an inherited disease in which the body does not break down fatty compounds, called gangliosides, as it should.
As the gangliosides accumulate in the body, they damage brain and nerve cells to the point that these cells cannot function properly.
There are two forms of Tay-Sachs disease:
In the classical or infantile form (the most common type), the body produces no hex A. This form of the disease develops during infancy.
A baby with Tay-Sachs disease appears healthy at birth. Symptoms usually first appear 3 to 6 months after birth, beginning with mild motor weakness and occasional twitches of the eye (myoclonic jerks).
The baby's condition progressively gets worse with seizures, blindness, paralysis, and death at age 4 to 5 years.
In late-onset Tay-Sachs (LOTS), the body produces lower-than-normal amounts of hex A. This form of the disease begins between adolescence and the mid-30s. In late-onset Tay-Sachs disease, the symptoms such as clumsiness or mood changes may be subtle at first, later progressing to muscle weakness and twitching, slurred speech, impaired thinking and reasoning, and mental disorders.
The life expectancy for a person with LOTS is not known. Depending on how severe the symptoms are, the person may live as long as someone who does not have Tay-Sachs disease.
Treatment for Tay-Sachs disease focuses on controlling symptoms and preparing for the course of the disease. There is no cure. Additional personal and family support measures (such as home care or respite care) may be needed as the disease progresses.
Sickle cell disease
Sickle cell disease is a blood disorder in which the body produces an abnormal type of the oxygen-carrying substance hemoglobin in the red blood cells. Normal hemoglobin is called hemoglobin A, but people with sickle cell disease have only hemoglobin S, which turns normal, round red blood cells into abnormally curved (sickle) shapes.
Sickle-shaped blood cells are destroyed by the body faster than normal blood cells, which can result in an inadequate oxygen supply to the body (anemia).
Most people with sickle cell disease have at least mild symptoms of chronic anemia, including:
Weakness and fatigue, A pale appearance, Yellowing of the skin and the whites of the eyes (jaundice), Shortness of breath. Sickle-shaped blood cells are also more likely to get stuck in and block small blood vessels throughout the body. Reduced blood flow caused by blocked blood vessels can damage certain organs, muscles, and bones.
This may cause repeated episodes of pain (called sickle cell crises) that may last from a few days to a few weeks.
The pain most often occurs in the bones of the spine, arms and legs, the chest, and the abdomen. People who have sickle cell disease need special medical care throughout their lives to treat the variety of problems that can be caused by the illness
Phenylketonuria (PKU)
What is phenylketonuria (PKU)?
Phenylketonuria (pronounced fee-nill-key-toe-NURR-ee-uh) or PKU is an inherited disorder of metabolism that can cause mental retardation if not treated.
In PKU, the body can’t process a portion of the protein called phenylalanine (Phe), which is in almost all foods. If the Phe level gets too high, the brain can become damaged.
All babies born in U.S. hospitals are now routinely tested for PKU soon after birth, making it easier to diagnose and treat them early.
What are the symptoms of PKU?
Children with untreated PKU may appear normal at birth.
By age three to six months, they begin to lose interest in their surroundings. By age one year, they are developmentally delayed and their skin has less pigmentation than someone without the condition. If Phe is not restricted in the diet, those with PKU develop severe mental retardation.
What are the treatments for PKU?
The most effective treatment for PKU is a special diet of foods that help control the amount of Phe consumed (some Phe is needed for normal growth and development). People with PKU who are on this diet from birth or shortly thereafter develop normally and often have no symptoms of PKU.
The PKU diet includes fruits, vegetables, and some low-protein breads, pastas, and cereals. There is also a special formula, made without Phe, that people with PKU drink to help them get the vitamins and minerals they can’t get from their food. Generally, people with PKU can’t eat high-protein foods, such as meat, milk, eggs, and nuts. An NIH Consensus Panel recently recommended that people with PKU stay on the diet for life to promote overall health and to prevent decline in mental function.
Are there other concerns for those with PKU?
Pregnant women who know they have PKU need to keep good control of the level of Phe in their diets beginning before and continuing throughout pregnancy. High levels of Phe in the blood can cause developmental problems and birth defects (such as small brain size and heart defects) in the fetus.
Cystic fibrosis
Cystic fibrosis is a chronic and progressive disease, usually diagnosed in childhood, which causes mucus to become thick and sticky. The mucus builds up and clogs passages in the lungs, pancreas, and many other organs in the body. In the lungs, cystic fibrosis causes respiratory problems when thicker-than-normal mucus forms in the airways and lungs. Children who have cystic fibrosis almost always have breathing problems and frequent lung infections.
In the pancreas, the mucus blockage can interfere with normal digestive processes and increase the risk of infection. Babies and children who have cystic fibrosis may not be able to absorb nutrients from food and may have below-normal growth and development.
Weight loss and difficulty gaining or maintaining weight are common problems for people of all ages who have cystic fibrosis.
Early symptoms of cystic fibrosis include abnormally salty sweat or skin and a failure to thrive, which includes a poor appetite, lack of energy, and weight loss during infancy. Some babies who have cystic fibrosis are born with a blocked small intestine. Later symptoms include coughing up mucus and a lack of energy.
Adults who have cystic fibrosis may have fertility problems.
There is no cure for cystic fibrosis.
Management of the disease varies from person to person and generally focuses on treating respiratory and digestive problems to prevent infection and other complications. Treatment usually involves a combination of medicines and home treatment methods, such as respiratory and nutritional therapies.
Neural tube defect
A neural tube defect (NTD) is a birth defect that occurs when the spine, the brain, or the bone and skin that protect them do not develop properly. The most common type of neural tube defect is spina bifida, in which the spinal cord or spinal nerves may bulge out through an opening in the bones of the spine. The neural tube is the part of a developing fetus that grows into the spinal cord and brain.
Normally, the bones of the skull and spine grow around the brain and spinal cord, and then skin covers the bones, creating the neural tube. A neural tube defect occurs when this process doesn't happen normally. Neural tube defects can be detected with prenatal tests, such as ultrasound and amniocentesis. In spina bifida, treatment depends on the severity. Surgery may be done to repair the spinal defect or to correct complications. Physical therapy, braces, and other treatments may be necessary to help the child with problems resulting from nerve damage.
Anencephaly is the second most common type of neural tube defect. In anencephaly, the infant is born with only a partially formed brain and spinal cord. This condition is always fatal
. Neural tube defects may be prevented if a woman takes folic acid before becoming pregnant and during the first 6 weeks of pregnancy. But often a woman does not know she is pregnant until after the first 6 weeks of pregnancy.
Spina bifida
Spina bifida is a birth defect in which the bones of the spine (vertebrae) do not form properly around the spinal cord. It can occur anywhere along the spine. The defect may be mild, in which case it is hidden under the skin and rarely causes problems.
In severe spina bifida, a portion of the spinal cord or spinal nerves are exposed on the outside of the skin. It can lead to life-threatening health problems, physical handicaps, and mental retardation.
Spina bifida develops in a fetus early in pregnancy, often before a woman knows she is pregnant. A woman is at increased risk for having a baby with spina bifida if her diet lacks folic acid. (Folic acid is a B vitamin found in leafy green vegetables, liver, certain types of beans, and other foods.) Women of childbearing age can reduce their chances of having a baby with spina bifida by eating a healthy diet and taking folic acid supplements. Blood tests and fetal ultrasound can sometimes detect spina bifida during pregnancy.
When spina bifida is mild and does not cause symptoms, it usually does not need treatment. In severe cases of spina bifida, surgery may be needed soon after birth. Autism is a complex developmental disability that causes problems with social interaction and communication. Symptoms usually start before age three and can cause delays or problems in many different skills that develop from infancy to adulthood.
Dyslexia Helps and College Information
Dyslexia
Dyslexia has been around for a long time and has been defined in different ways. For example, in 1968, the World Federation of Neurologists defined dyslexia as "a disorder in children who, despite conventional classroom experience, fail to attain the language skills of reading, writing, and spelling commensurate with their intellectual abilities." According to the U.S. National Institutes of Health, dyslexia is a learning disability that can hinder a person's ability to read, write, spell, and sometimes speak.
Dyslexia is the most common learning disability in children and persists throughout life. The severity of dyslexia can vary from mild to severe. The sooner dyslexia is treated, the more favorable the outcome; however, it is never too late for people with dyslexia to learn to improve their language skills. Children with dyslexia have difficulty in learning to read despite traditional instruction, at least average intelligence, and an adequate opportunity to learn. It is caused by impairment in the brain's ability to translate images received from the eyes or ears into understandable language. It does not result from vision or hearing problems.
It is not due to mental retardation, brain damage, or a lack of intelligence. Dyslexia can go undetected in the early grades of schooling. The child can become frustrated by the difficulty in learning to read, and other problems can arise that disguise dyslexia.
The child may show signs of depression and low self-esteem. Behavior problems at home as well as at school are frequently seen. The child may become unmotivated and develop a dislike for school. The child's success in school may be jeopardized if the problem remains untreated.
What causes dyslexia?
What are the different types of dyslexia?
There are several types of dyslexia that can affect the child's ability to spell as well as read. "Trauma dyslexia" usually occurs after some form of brain trauma or injury to the area of the brain that controls reading and writing. It is rarely seen in today's school-age population. A second type of dyslexia is referred to as "primary dyslexia." This type of dyslexia is a dysfunction of, rather than damage to, the left side of the brain (cerebral cortex) and does not change with age. Individuals with this type are rarely able to read above a fourth-grade level and may struggle with reading, spelling, and writing as adults. Primary dyslexia is passed in family lines through their genes (hereditary). It is found more often in boys than in girls. A third type of dyslexia is referred to as "secondary" or "developmental dyslexia" and is felt to be caused by hormonal development during the early stages of fetal development. Developmental dyslexia diminishes as the child matures. It is also more common in boys. Dyslexia may affect several different functions. Visual dyslexia is characterized by number and letter reversals and the inability to write symbols in the correct sequence. Auditory dyslexia involves difficulty with sounds of letters or groups of letters. The sounds are perceived as jumbled or not heard correctly. "Dysgraphia" refers to the child's difficulty holding and controlling a pencil so that the correct markings can be made on the paper.
What are the signs and symptoms of dyslexia?
Classroom teachers may not be able to determine if a child has dyslexia. They may detect early signs that suggest further assessment by a psychologist or other health professional in order to actually diagnose the disorder. Letter and number reversals are the most common warning sign. Such reversals are fairly common up to the age of 7 or 8 and usually diminish by that time. If they do not, it may be appropriate to test for dyslexia or other learning problems. Difficulty copying from the board or a book can also suggest problems. There may be a general disorganization of written work. A child may not be able to remember content, even if it involves a favorite video or storybook. Problems with spatial relationships can extend beyond the classroom and be observed on the playground. The child may appear to be uncoordinated and have difficulty with organized sports or games. Difficulty with left and right is common, and often dominance for either hand has not been established. In the early grades, music and dance are often used to enhance academic learning. Children with dyslexia can have difficulty moving to the rhythm of the music. Auditory problems in dyslexia encompass a variety of functions. Commonly, a child may have difficulty remembering or understanding what he hears. Recalling sequences of things or more than one command at a time can be difficult. Parts of words or parts of whole sentences may be missed, and words can come out sounding funny. The wrong word or a similar word may be used instead. Children struggling with this problem may know what they want to say but have trouble finding the actual words to express their thoughts. Many subtle signs can be observed in children with dyslexia. Children may become withdrawn and appear to be depressed. They may begin to act out, drawing attention away from their learning difficulty. Problems with self-esteem can arise, and peer and sibling interactions can become strained. These children may lose their interest in school-related activities and appear to be unmotivated or lazy. The emotional symptoms and signs are just as important as the academic and require equal attention.
What do parents do if they see these signs and symptoms?
It is important to consult your pediatrician if you are concerned about your child's development. Additionally, meeting with your child's teachers is an important step toward getting more answers. Ideally, every school has a team that meets on a regular basis to discuss problems a specific child might be having. These teams are made up of the principal, classroom teacher, and one or a combination of the following depending on the staffing of the school: school psychologist, nurse, speech therapist, reading specialist, and other pertinent professionals. A parent should always be included as a part of this team. The teams are commonly referred to as Child Study Teams, Student Study Teams, or Student Support Teams. Any parent or teacher who suspects a learning problem may request a meeting with this team to discuss the child's problem. The parent may request this even if the teacher feels the child is doing well. Sometimes a decision to test the child will be made.
The parent or teacher may request testing, but it cannot be done without the parents' written permission. If the child attends a private school which lacks the appropriate professionals to evaluate a suspected learning problem, he should be referred to the public-school system for evaluation. If testing is not satisfactorily conducted in the public-school system for private or public school students, the parent will need to locate the appropriate health professionals for assessment. A list of resources is provided at the conclusion of this article. Because testing can sometimes be stressful for children, especially if they are unhappy about their school performance, alternative strategies are usually tried before testing is done. Once the assessment plan has been discussed with the parent(s) and they have granted permission, the school team completes the testing and holds a meeting with the parent(s) to discuss the test results. The assessment plan for each child depends on the specific problems the child is having.
Each plan should include testing in five areas: cognition (intelligence), academic performance, communication, sensory/motor, and health and developmental. The testing will be done by the various members of the school team or the professionals consulted by the parent. Typically, the school or clinical psychologist determines whether or not the child has dyslexia. Since there are different forms of dyslexia, such as learning disability in reading, written language, or math, the psychologist diagnoses the specific type. Another form known as expressive language delay can be diagnosed by a speech therapist.
How is dyslexia diagnosed?
Dyslexia is a difficult disorder to diagnose.
There are many factors the psychologist or other health professional reviews to diagnose the disability. The testing determines the child's functional reading level and compares it to reading potential, which is evaluated by an intelligence test. All aspects of the reading process are examined to pinpoint where the breakdown is occurring. The testing further assesses how a child takes in and processes information and what the child does with the information.
The tests determine whether a child learns better by hearing information (auditory), looking at information (visual), or doing something (kinesthetic).
They also assess whether a child performs better when allowed to give information (output), by saying something (oral), or by doing something with their hands (tactile-kinesthetic). The tests also evaluate how all of these sensory systems (modalities) work in conjunction with each other. The tests administered are standardized and are considered highly reliable.
The child should not feel as if there is something wrong because testing is occurring. Many of the tests use a game-type or puzzle format which can help make the child feel more comfortable. Children should get a good night's sleep prior to the testing and have a good breakfast. If the testing is done in a school setting, the teacher can prepare the child by talking about the person who will come and do special work with the child.
With young children, the psychologist may visit the child's classroom before the testing so that the child is familiar with him. Whether or not the testing is done at school, the parent may want to talk to their child about a new person coming to work with them. However, parents should not try to coach the child concerning the testing. It is recommended that parents not be present during the testing. A standard battery of tests can include, but is not limited to, the following:
1. Wechsler Intelligence Scale for Children-Third Edition (WISC-III)
2. Kaufman Assessment Battery for Children (KABC)
3. Stanford-Binet Intelligence Scale
4. Woodcock-Johnson Psycho-Educational Battery
5. Peabody Individual Achievement Tests-Revised (PIAT)
6. Wechsler Individual Achievement Tests (WIAT)
7. Kaufman Tests of Educational Achievement (KTEA)
8. Bender Gestalt Test of Visual Motor Perception
9. Beery Developmental Test of Visual-Motor Integration
10. Motor-Free Visual Perception Test
11. Visual Aural Digit Span Test (VADS)
12. Test of Auditory Perception (TAPS)
13. Test of Visual Perception (TVPS)
14. Peabody Picture Vocabulary Test-Revised
15. Expressive One-Word Picture Vocabulary Test
16. Test for Auditory Comprehension of Language
What type of treatment is available for dyslexia?
Before any treatment is started, an evaluation must be done to determine the child's specific area of disability. While there are many theories about successful treatment for dyslexia, there is no actual cure for it. The school will develop a plan with the parent to meet the child's needs.
If the child's current school is unprepared to address this condition, the child will need to be transferred to a school, if available in the area, which can appropriately educate the dyslexic child. The plan may be implemented in a Special Education setting or in the regular classroom. An appropriate treatment plan will focus on strengthening the child's weaknesses while utilizing the strengths.
A direct approach may include a systematic study of phonics.
Techniques designed to help all the senses work together efficiently can also be used. Specific reading approaches that require a child to hear, see, say, and do something (multisensory), such as the Slingerland Method, the Orton-Gillingham Method, or Project READ can be used.
Computers are powerful tools for these children and should be utilized as much as possible. The child should be taught compensation and coping skills. Attention should be given to optimum learning conditions and alternative avenues for student performance. In addition to what the school has to offer, there are alternative treatment options available outside the school setting.
Although alternative treatments are commonly recommended, there is limited research supporting the effectiveness of these treatments. In addition, many of these treatments are very costly, and it may be easy for frustrated parents to be misled by something that is expensive and sounds attractive. Perhaps the most important aspect of any treatment plan is attitude.
The child will be influenced by the attitudes of the adults around him. Dyslexia should not become an excuse for a child to avoid written work. Because the academic demands on a child with dyslexia may be great and the child may tire easily, work increments should be broken down into appropriate chunks.
Frequent breaks should be built into class and homework time. Reinforcement should be given for efforts as well as achievements.
Alternatives to traditional written assignments should be explored and utilized.
Teachers are learning to deliver information to students in a variety of ways that are not only more interesting but helpful to students who may learn best by different techniques. Interactive technology is providing interesting ways for students to feedback on what they have learned, in contrast to traditional paper-pencil tasks.
Dyslexia At A Glance
Dyslexia is difficulty in learning to read.
Dyslexia can be related to brain injury, hereditary, or hormonal influences.
Letter and number reversals are a common warning sign of dyslexia.
Diagnosis of dyslexia involves reviewing the child's processing of information from seeing, hearing, and participating in activities.
Treatment of dyslexia ideally involves planning between the parent(s) and the teachers.
For further information regarding dyslexia, ask your child's pediatrician for assistance, contact your local public school district office, or one of the following:
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