Notebank12


Neural Tube Defects

Posted in Children with physical disability by notebank12th on March 28, 2008


What are Neural Tube Defects (NTDs)?

Neural tube defects (NTDs) are one of the most common birth defects, occurring in approximately one in 1,000 live births in the United States. An NTD is an opening in the spinal cord or brain that occurs very early in human development. The early spinal cord of the embryo begins as a flat region, which rolls into a tube (the neural tube) 28 days after the baby is conceived. When the neural tube does not close completely, an NTD develops. NTDs develop before most women know they are even pregnant.

There are two types of NTDs.

1.     Open NTDs.

2.     Closed NTDs

Open NTDs.

The most common type are called the Open NTDs occur when the brain and/or spinal cord are exposed at birth through a defect in the skull or vertebrae (back bones). Examples of open NTDs are

·        Spina bifida (myelomeningocele),

·        Anencephaly, and

·        Encephalocele NT

Spina bifida (myelomeningocele):

Spina bifida is the most common neural tube defect. Spina Bifida Association of America estimates that more than 70,000 people in the United States are living with spina bifida. However, it also has the best prognosis of the NTDs, as most babies born with spina bifida can now live well into adulthood.

Spina bifida occurs when the spine fails to close properly during the first few weeks of pregnancy, causing damage to the nerves and spinal cord. The damage can range from mild to severe. Severe cases can result in full or partial paralysis and other problems such as hydrocephalus, bowel and bladder problems and even learning disabilities. there are three common forms of spina bifida:

Occulta

In this group of NTDs, the meninges do not herniate through the bony defect. This lesion is covered by skin (ie, closed), therefore rendering the underlying neurologic involvement occult or hidden. These patients do not have associated hydrocephalus or Chiari II malformations. Often, a skin lesion such as a hairy patch, dermal sinus tract, dimple, hemangioma, or lipoma points to the underlying spina bifida and neurologic abnormality present in the thoracic, lumbar, or sacral region. Presence of these cutaneous stigmata above the gluteal fold signifies the presence of an occult spinal lesion. Dimples below the gluteal fold signify a benign, nonneurologic finding such as a pilonidal sinus. This is an important point for differentiating the lesions that have neurologic involvement from those that do not.

An experienced pediatrician or surgeon should examine any neonate with cutaneous stigmata on the back around the gluteus. A good rule of thumb is that a lesion (eg, pit, tract) below the gluteal crease is often a pilonidal sinus and needs no further evaluation. Those tracts, pits, or lesions above the gluteal fold should be evaluated further.

Lesions that are questionable can be scanned with ultrasound in a neonate or with MRI in an older child. The ultrasound or MRI delineates the presence or absence of a tethered cord or other spinal anomaly. Plain radiology can reveal a panoply of anomalies, such as fused vertebrae, midline defects, bony spurs, or abnormal laminae. An MRI often is useful in evaluating for a split cord malformation (ie, diastematomyelia), in which a bony spur splits the spinal cord, or a duplication of the spinal cord and nerve roots (diplomyelia). More commonly, the neurosurgeon is searching for tethering of the spinal cord by a sinus tract or thickened filum that can cause traction on the spinal cord with subsequent neurologic deficits as the child grows.

A growing body of evidence indicates that the surgical repair of these lesions is more effective when performed prophylactically. Once the patient experiences a significant neurologic deficit, such as a neurogenic bladder or leg weakness, from these occult spinal lesions, the surgical remedy may not return the patient to the baseline neurologic status.

Signs and symptoms of occult spinal disorders in children include the following:

  • Extremity asymmetry
  • Foot deformities
  • Weakness of leg or legs
  • Leg atrophy or asymmetry
  • Loss of sensation, painless sores
  • Hyperreflexia
  • Unusual back pain
  • Abnormal gait

 

Meningocele

The rarest of these three, in which the meninges (the protective membrane covering the spinal cord) protrudes through an opening in the spine. Because it does not involve the spinal cord itself, meningocele can usually be treated surgically and without paralysis, allowing children to develop normally. However, affected children can develop hydrocephalus and bowel or bladder problems.

Myelomeningocele

 Myelomeningocele is a condition in which the spinal cord and nerve roots herniated into a sac comprising the meninges. This sac protrudes through the bone and musculocutaneous defect. The spinal cord often ends in this sac in which it is splayed open, exposing the central canal. The splayed open neural structure is called the neural placode. This type of NTD is the subject of most of this article (see Image 1). Certain neurological anomalies, such as hydrocephalus and Chiari II malformation (discussed later in this article), accompany myelomeningocele. In addition, myelomeningoceles have a higher incidence of associated intestinal, cardiac, and esophageal malformations, as well as renal and urogenital anomalies. Most neonates with myelomeningocele have orthopedic anomalies of their lower extremities and neurological abnormalities due to connection with sacral nervous root.

A meningocele is simply herniation of the meninges through the bony defect (spina bifida). The spinal cord and nerve roots do not herniate into this dorsal dural sac. These lesions are important to differentiate from myelomeningocele because their treatment and prognosis are so different from myelomeningocele. Neonates with a meningocele usually have normal findings upon physical examination and a covered (closed) dural sac. Neonates with meningocele do not have associated neurological malformations such as hydrocephalus or Chiari II.

A subtype of spina bifida is called lipomeningocele, or lipomyelomeningocele, which is a common form of NTD treated by pediatric neurosurgeons. These lesions have a lipomatous mass that herniates through the bony defect and attaches to the spinal cord, tethering the cord and often the associated nerve roots. The lipomyelomeningocele can envelop both dorsal and ventral nerve roots, only the dorsal nerve roots, and simply the filum terminale and conus medullaris. These lesions do not have associated hydrocephalus but have a more guarded prognosis than simple meningoceles. The surgical correction of these lesions is more complex, and the retethering rate, in which an additional surgery is required, is as high as 20% in some series.

In a third, rare type of spina bifida cystica called myelocystocele, the spinal cord has a large terminal cystic dilatation resulting from hydromyelia. The posterior wall of the spinal cord often is attached to the skin (ectoderm) and is undifferentiated, thus giving rise to a large terminal skin-covered sac. The vast majority of the lesions are dorsal, although a small minority (approximately 0.5%) is ventral in location. The most common ventral variant is an anterior sacral meningocele, which most often is discovered in females as a pelvic mass.

 

There is no cure for spina bifida because the damaged nerves cannot be replaced or repaired. The prognosis for those with spina bifida depends largely on the number and severity of abnormalities, according to National Institute of Neurological Disorders and Stroke (NINDS)

. The outlook is poorest for those with complete paralysis, hydrocephalus and other problems. However, with today’s advanced medical techniques, many children with the more severe forms of spina bifida are living into adulthood.

In cases where spina bifida has caused problems, treatment may include surgery, medication, physical therapy (Read about “Rehabilitation“) and other types of care. Many of those affected will need assistive devices such as wheelchairs, crutches or braces. Continual treatment may be necessary throughout an individual’s life to manage and prevent complications of the disorder.

One main complication of spina bifida is hydrocephalus, or fluid on the brain. When the fluid that normally surrounds and cushions the brain cannot drain properly – in this case because the spina bifida abnormality blocks the fluid’s normal path – the excess builds up putting pressure on the brain. MOD says that about 90 percent of children with severe spina bifida will develop hydrocephalus. This serious condition can usually be treated with surgery to place a special tube called a shunt in the body. The shunt runs under the skin, redirecting the fluid and passing it harmlessly into the chest or abdomen, where it is reabsorbed by the body.

The nerve damage caused by spina bifida leaves most children with weakened muscles and usually some degree of paralysis. Many will require a wheelchair; however, studies show that 70 percent can eventually walk with or without leg braces or crutches, according to the MOD. Affected children may also suffer stiff joints and some are born with abnormalities of the hips, knees and feet. Surgery can correct some of these problems, while physical therapy can help the joints and weak muscles.

Bowel and bladder problems also frequently result from spina bifida. Often the nerves that control these functions are among those damaged. Children may be more likely to develop urinary tract infections, suffer kidney damage and be unable to have control of their bowels. Special techniques, some medication and dietary management can help manage these problems.

 

SBAA lists other secondary problems that may result from spina bifida including:

  • latex allergy
  • tendinitis
  • obesity
  • gastrointestinal disorders
  • learning disabilities
  • social and sexual issues

Clinical features

  • Occurs in 2-3 per 1000 live births
  • Can be detected prenatally by increased serum alpha-fetoprotein
  • Spinal defect is clinically obvious
  • Can result in various degrees of:
    • Limb weakness
    • Sensory loss
    • Joint dislocation and contractures
    • Urinary disorders
  • Of patients with a meningomyelocele
  • One-third have complete paralysis and loss of sensation below the level of the defect
  • One-third have preservation of distal segments below the level of the defect
  • One-third have an incomplete lesion
  • 90% of children develop urinary problems

Management

  • Management is complicated and should involve a multidisciplinary team
  • Team should include paediatrician, orthopaedic surgeon, neurologist, physiotherapist etc
  • Treatment depend on level and severity of defect
  • Patients with high defects and gross neurological defects many not be candidates for surgery
  • If good prognosis the aim should be to achieve skin closure with 48 hours of birth
  • Ventriculo-caval shunting may be required in the first week
  • Early treatment of orthopaedic abnormalities is by physiotherapy
  • Surgical intervention (e.g. osteotomies) may be required in the first few years of life

 


Anencephaly

Anencephaly is a cephalic disorder that results from a neural tube defect that occurs when the cephalic (head) end of the neural tube fails to close, usually between the 23rd and 26th day of pregnancy, resulting in the absence of a major portion of the brain, skull, and scalp. Children with this disorder are born without a forebrain, the largest part of the brain consisting mainly of the cerebral hemispheres (which include the isocortex, which is responsible for higher level cognition, i.e., thinking). The remaining brain tissue is often exposed – not covered by bone or skin.

Presentation

Infants born with anencephaly are usually blind, deaf, unconscious, and unable to feel pain. Although some individuals with anencephaly may be born with a rudimentary brainstem, which controls autonomic and regulatory function, the lack of a functioning cerebrum is usually thought of as ruling out the possibility of ever gaining consciousness, even though it has been disputed specifically. Reflex actions such as breathing and responses to sound or touch may occur.

 Diagnosis

Anencephaly can often be diagnosed before birth through an ultrasound examination. The maternal serum alpha-fetoprotein (AFP screening)[2] and detailed fetal ultrasound can be useful for screening for neural tube defects such as spina bifida or anencephaly.

There are many false diagnoses for anencephaly, as it is not a common diagnosis, often confused with exencephaly or microcephaly. Also, sometimes a false prognosis stating that an anencephalic baby can live for years is given, but this cannot occur because the brain is open, meaning that infection sets in rapidly. The anencephalic brain is also usually very disorganized on a cellular level.

There is no cure or standard treatment for anencephaly and the prognosis for affected individuals is poor. Most anencephalic babies do not survive birth, accounting for 55% of non-aborted cases. If the infant is not stillborn, then he or she will usually die within a few hours or days after birth from cardiorespiratory arrest.

In almost all cases anencephalic infants are not aggressively resuscitated since there is no chance of the infant ever achieving a conscious existence. Instead, the usual clinical practice is to offer hydration, nutrition and comfort measures and to “let nature take its course”. Artificial ventilation, surgery (to fix any co-existing congenital defects), and drug therapy (such as antibiotics) are usually regarded as futile efforts. Clinicians and medical ethicists may view the provision of nutrition and hydration as medically futile. Occasionally some may even go one step further to argue that euthanasia is morally and clinically appropriate in such cases.

Rate of occurrence

In the United States, approximately 1,000 to 2,000 babies are born with anencephaly each year. Female babies are more likely to be affected by the disorder

Causes

The cause of anencephaly is unknown. Neural tube defects do not follow direct patterns of heredity, though there is some indirect evidence of inheritance[4], and recent animal models indicating a possible association with deficiencies of the transcription factor TEAD2.[5] Studies show that a woman who has had one child with a neural tube defect such as anencephaly, has about a 3% risk to have another child with a neural tube defect.

It is known that women taking certain medication for epilepsy and women with insulin dependent diabetes have a higher chance of having a child with a neural tube defect. Genetic counseling is usually offered to women at a higher risk of having a child with a neural tube defect to discuss available testing.

Recent studies have shown that the addition of folic acid to the diet of women of child-bearing age may significantly reduce, although not eliminate, the incidence of neural tube defects. Therefore, it is recommended that all women of child-bearing age consume 0.4 mg of folic acid daily, especially those attempting to conceive or who may possibly conceive, as this can reduce the risk to 0.03%.[6] It is not advisable to wait until pregnancy has begun, since by the time a woman knows she is pregnant, the critical time for the formation of a neural tube defect has usually already passed. A physician may prescribe even higher dosages of folic acid (4 mg/day) for women who have had a previous pregnancy with a neural tube defect.

Encephalocele

Encephalocele are rare neural tube defects characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. These defects are caused by failure of the neural tube to close completely during fetal development. The result is a groove down the midline of the upper part of the skull, or the area between the forehead and nose, or the back of the skull. When located in the back of the skull, encephaloceles are often associated with neurological problems. Usually encephaloceles are dramatic deformities diagnosed immediately after birth, but occasionally a small encephalocele in the nasal and forehead region can go undetected. Encephaloceles are often accompanied by craniofacial abnormalities or other brain malformations. Symptoms and associated abnormalities of encephaloceles may include hydrocephalus (excessive accumulation of cerebrospinal fluid in the brain), spastic quadriplegia (paralysis of the arms and legs), microcephaly (abnormally small head), ataxia (uncoordinated movement of the voluntary muscles, such as those involved in walking and reaching), developmental delay, vision problems, mental and growth retardation, and seizures. Some affected children may have normal intelligence. There is a genetic component to the condition; it often occurs in families with a history of spina bifida and anencephaly in family members.

Is there any treatment?

Generally, surgery is performed during infancy to place the protruding tissues back into the skull, remove the sac, and correct the associated craniofacial abnormalities. Even large protrusions can often be removed without causing major functional disability. Hydrocephalus associated with encephaloceles may require surgical treatment with a shunt. Other treatment is symptomatic and supportive.

What is the prognosis?

The prognosis for individuals with encephaloceles varies depending on the type of brain tissue involved, the location of the sacs, and the accompanying brain malformations.

What research is being done?

The NINDS conducts and supports a wide range of studies that explore the complex mechanisms of normal brain development. The knowledge gained from these fundamental studies provides the foundation for understanding how this process can go awry and offers hope for new means to treat and prevent congenital brain disorders including neural tube defects such as encephaloceles.

 

 

 


Closed NTDs

Rarer types of NTDs are called. Closed NTDs occur when the spinal defect is covered by skin. Common examples of closed NTDs are

·        Lipomyelomeningocele,

·        Lipomeningocele, and

·        Tethered cord

Lipomyelomeningocele

A lipomyelomeningocele is a birth defect of a child’s spine. It is a fatty mass starting under the skin on the child’s back, usually in the middle. The mass extends inward to the spinal canal. It is covered in skin and is usually visible from outside the child’s body.

The two biggest problems with lipomyelomeningocele in children are:

  1. The spinal cord is stuck (fixed) to the fatty mass
  2. The fatty mass puts pressure on the spinal cord

Who gets a lipomyelomeningocele?

This is a rare defect. It only occurs in one to two infants per 10,000 live births. It is slightly more common in girls.

The defect happens early in the mother’s pregnancy — about the fourth to sixth week — and has no known cause. Unlike a myelomeningocele, it does not have a genetic component nor is it due to a lack of folic acid during pregnancy.


A lipomyelomeningocele that can invade the spinal cord and cause weakness and bladder problems.

What surgery do you use to treat lipomyelomeningocele?

Because this lesion is covered with skin, we don’t do a lipomyelomeningocele repair until a baby is 4 – 8 months old.

If the fatty mass is not removed and the spinal cord remains tethered, neurological damage happens over time. Slowly, she will lose sensory and movement function, also called motor function.

First, we do a laminectomy. Neurosurgeons remove one or more sides of the back arches of a spinal bone (vertebra). We can then reach the spinal cord or spinal nerve roots that need repair.

Next, we remove some of the fatty mass and free up the spinal cord. We close the defect where the fat enters the baby’s spinal canal.

Tethered Spinal Cord

What is Tethered Spinal Cord Syndrome?
Tethered spinal cord syndrome is a neurological disorder caused by tissue attachments that limit the movement of the spinal cord within the spinal column.  These attachments cause an abnormal stretching of the spinal cord.  The course of the disorder is progressive.  In children, symptoms may include lesions, hairy patches, dimples, or fatty tumors on the lower back; foot and spinal deformities; weakness in the legs; low back pain; scoliosis; and incontinence.  Tethered spinal cord syndrome may go undiagnosed until adulthood, when sensory and motor problems and loss of bowel and bladder control emerge.  This delayed presentation of symptoms is related to the degree of strain placed on the spinal cord over time. Tethered spinal cord syndrome appears to be the result of improper growth of the neural tube during fetal development, and is closely linked to spina bifida. Tethering may also develop after spinal cord injury and scar tissue can block the flow of fluids around the spinal cord.  Fluid pressure may cause cysts to form in the spinal cord, a condition called syringomyelia.  This can lead to additional loss of movement, feeling or the onset of pain or autonomic symptoms

 

.

Is there any treatment?

In children, early surgery is recommended to prevent further neurological deterioration. If surgery is not advisable, spinal cord nerve roots may be cut to relieve pain.  In adults, surgery to free (detether) the spinal cord can reduce the size and further development of cysts in the cord and may restore some function or alleviate other symptoms.  Other treatment is symptomatic and supportive.

What is the prognosis?

With treatment, individuals with tethered spinal cord syndrome have a normal life expectancy.  However, some neurological and motor impairments may not be fully correctable. 

What research is being done?

The NINDS conducts and supports research on disorders of the spinal cord.  The goals of this research are to find ways to prevent, treat, and cure these disorders.


Causes of NTD:

   Pregnant women taking medication for epilepsy have a higher chance      of having a child with a neural tube defect. Research has shown that  women with folic acid deficiencies also have a higher chance of having a child with a neural tube defect, but this is only one factor. Taking folic acid does not completely negate the risk of neural tube problems, but it does significantly reduce the risk.

Genetics and Neural Tube Defects

Neural tube defects are considered a complex disorder because they are caused by a combination of multiple genes and multiple environmental factors. Known environmental factors include folic acid, maternal insulin dependent diabetes, and maternal use of certain anticonvulsant (antiseizure) medications. While only a few environmental factors have been characterized, many different studies provide evidence that NTDs have a genetic component in their development. Studies of twins with NTDs have shown both identical twins have NTDs more than both fraternal twins. Studies of families show that the chance of having a second family member born with an NTD after one child is born with an NTD increases. For example, the general population’s chance of having an NTD is approximately 0.1% (1 in 1000). However, once a couple has one child with an NTD, their chance of having a second child with an NTD is increased to approximately 2-5%. Further studies have shown evidence for a genetic pattern of inheritance for NTDs.

NTDs are a feature (or symptom) of known genetic syndromes, such as trisomy 13, trisomy 18, certain chromosome rearrangements, and Meckel-Gruber syndrome.

The Duke Center for Human Genetics is currently conducting a genetic study called “The Hereditary Basis of Neural Tube Defects,” to determine the causes of NTDs. By studying families with NTDs, we hope to identify the genes that contribute to the development of an NTD. We hope this research will allow us to better understand the genetic and environmental causes of NTDs, which will eventually lead to more accurate genetic counseling and risk assessment, improved treatments, better prevention methods, and, possibly, a cure.

As a part of our overall NTD genetic study, we are also conducting sub-studies, including investigations into the genetics of anencephaly and closed NTDs.

  • Anencephaly is one of the most severe, fatal forms of an NTD. Anencephaly is defined as the incomplete formation of the skull, which is at the top of the neural tube. We are particularly interested in helping uncover the cause(s) of anencephaly, in the hopes of helping families understand this devastating disorder.

 

 

NTD Prevention

Researchers have found that 50-70% of NTDs can be prevented when women supplement their diet with folic acid, a water-soluble B vitamin. The Centers for Disease Control (CDC) recommends all women of childbearing age eat a diet high in folic acid or take a multivitamin with 0.4mg of folic acid each day, especially one month prior to conception through the first three months of pregnancy. This dosage is the amount found in most over-the-counter multivitamins. However, women who have had a previous NTD pregnancy are recommended to take an even higher dosage of folic acid prior to planning a pregnancy. They should increase the daily dose of folic acid from 0.4mg to 4.0mg, one month prior to conception through the first three months of pregnancy. The 4.0mg of folic acid should only be obtained through a prescription from the doctor.

NTD Detection

Most NTDs can be detected during pregnancy by one of three different prenatal tests:

  1. Maternal Serum Alpha Fetoprotein (MSAFP), a screening test that is performed on a pregnant woman’s blood at approximately 16-18 weeks of pregnancy
  2. High Resolution Ultrasound, which may detect an NTD visually after approximately 18 weeks of pregnancy. Some severe forms of NTDs such as anencephaly, may be detected earlier than 16 weeks
  3. Amniocentesis, a test that samples the amniotic fluid (fluid that surrounds the baby) after 15 weeks of pregnancy.

There are various risks (such as miscarriage) and benefits (such as advance preparation for any special medical care a baby with an NTD will need after delivery) to each of these tests. A genetic counselor or other health care provider should be consulted to explain in detail each procedure, their risks and benefits, and other options available


  • Closed NTDs, such as lipo(myelo)meningocele, lipomeningocele, and tethered cord occur when skin has grown over the NTD. The genetics of closed NTDs are not currently understood. For many years, researchers have assumed that the information about myelomeningocele is the same for the closed NTDs. The aim of this sub-study is to determine if the same genetic factors that contribute to causing open neural tube defects, such as myelomeningocele, are also responsible for contributing to the cause of closed NTDs.

Risk Factors and Testing

While the cause of spina bifida and other NTDs remains unknown, scientists believe that genetic factors may play a part. Those who do have a family history are at increased risk of having a child with an NTD. This includes couples that have a child with spina bifida, couples in which one or both parents have spina bifida themselves, or ones who have already had a pregnancy affected by any neural defect. Women with certain chronic health problems, including diabetes and seizure disorders also have an increased risk of having a baby with an NTD. However, MOD says 90 to 95 percent of babies with NTDs are born to parents with no family history of these disorders.

Another key risk factor for neural tube defects is an insufficient level of folic acid (vitamin B9). According to MOD, studies show that if all women in the U.S. took enough of the B vitamin folic acid every day before and during early pregnancy, up to 70 percent of neural tube defects could be prevented.

It is generally recommended that all women take a daily multivitamin that contains 400 micrograms of folic acid and eat a healthy diet including foods rich in folic acid, according to MOD. Natural folic acid can be found in leafy green vegetables such as broccoli and spinach, orange juice, egg yolks, beans and fortified breakfast cereals.

The Food and Drug Administration recommended that cereal grains be fortified with folic acid starting in 1996 and required it starting in 1998. The National Center for Health Statistics reports that the rate of SB started to decline in 1996 and continued down until leveling off at the turn of the century. The case for folic acid was even more dramatic with anencephalus, with the rate starting to drop in 1998 and continuing downward through the latest surveys.

Women who are at higher risk for having a child with an NTD may need a higher dose of folic acid daily, and can talk to their doctor about a prescription. It also helps to plan a pregnancy ahead of time. This way, a woman can be sure she has enough folic acid in her system before and during the early weeks of pregnancy before the neural tube closes.

If you and your doctor feel you are at risk, there are tests than can detect NTDs before birth. First is a blood test called the maternal serum alpha fetoprotein (MSAFP) test, part of the “triple screen” test. If it comes back with a high result, two additional tests can be performed. These are an ultrasound of the fetal spine and amniocentesis, which measures the levels of alpha fetoprotein in the amniotic fluid

Diagnosing NTD before birth means that doctors can provide the parents with information and support. They can also plan for delivery in a special medical center so the infant can get immediate treatment after birth. According to MOD, one study

 

 

found that cesarean delivery prior to labor may reduce the severity of paralysis in babies with spina bifida. If a baby is diagnosed before birth, the parents and doctor could discuss a planned cesarean delivery.

 

Neural Tube Defects Research Review

NTDs are one of the most common birth defects, though their causes are not well understood. The formation of the neural tube during development is a complex process, and the goal of our project is to discover the genetic and environmental factors that contribute to NTDs. One major step in research is to gather data on a large number of families. Currently, the Center for Human Genetics (CHG) has enrolled more than 1200 families. We will need to enroll another 500-1000 families before some of the laboratory studies can be completed. We continue to collaborate with Myelodysplasia clinics around the country, presenting information at local and national Spina Bifida Association of America conferences, and speaking with families interested in the study.

In the laboratory, our goal is to find genes that cause or contribute to NTDs. There are two major strategies scientists are using:

  • genome scan – systematically searching each chromosome, looking for areas which may harbor genes that cause or contribute to NTDs
  • candidate gene analysis – studying genes of known function that could potentially be involved in neural tube development. Examples of candidate genes include the many genes involved in the folic acid metabolism pathway, genes known to cause NTDs in animals, and genes involved in chromosomal rearrangements in individuals who also have NTDs.

 

Blooms texonomy

Posted in assessment and measurement by notebank12th on March 28, 2008

Your browser may not support display of this image.

In 1956, Benjamin Bloom headed a group of educational psychologists who developed a classification of levels of intellectual behavior important in learning. Bloom found that over 95 % of the test questions students encounter require them to think only at the lowest possible level…the recall of information.

Bloom identified six levels within the cognitive domain, from the simple recall or recognition of facts, as the lowest level, through increasingly more complex and abstract mental levels, to the highest order which is classified as evaluation. Verb examples that represent intellectual activity on each level are listed here.

  1. Knowledge: arrange, define, duplicate, label, list, memorize, name, order, recognize, relate, recall, repeat, and reproduce state.
  2. Comprehension: classify, describe, discuss, explain, express, identify, indicate, locate, recognize, report, restate, review, select, translate,
  3. Application: apply, choose, demonstrate, dramatize, employ, illustrate, interpret, operate, practice, schedule, sketch, solve, use, write.
  4. Analysis: analyze, appraise, calculate, categorize, compare, contrast, criticize, differentiate, discriminate, distinguish, examine, experiment, question, test.
  5. Synthesis: arrange, assemble, collect, compose, construct, create, design, develop, formulate, manage, organize, plan, prepare, propose, set up, write.
  6. Evaluation: appraise, argue, assess, attach, choose compare, defend estimate, judge, predict, rate, core, select, support, value, evaluate.

Bloom’s Taxonomy

Benjamin Bloom created this taxonomy for categorizing level of abstraction of questions that commonly occur in educational settings. The taxonomy provides a useful structure in which to categorize test questions, since professors will characteristically ask questions within particular levels, and if you can determine the levels of questions that will appear on your exams, you will be able to study using appropriate strategies.

    Competence

    Skills Demonstrated

    Knowledge
    • observation and recall of information
    • knowledge of dates, events, places
    • knowledge of major ideas
    • mastery of subject matter
    • Question Cues:
      list, define, tell, describe, identify, show, label, collect, examine, tabulate, quote, name, who, when, where, etc.
    Comprehension
    • understanding information
    • grasp meaning
    • translate knowledge into new context
    • interpret facts, compare, contrast
    • order, group, infer causes
    • predict consequences
    • Question Cues:
      summarize, describe, interpret, contrast, predict, associate, distinguish, estimate, differentiate, discuss, extend
    Application
    • use information
    • use methods, concepts, theories in new situations
    • solve problems using required skills or knowledge
    • Questions Cues:
      apply, demonstrate, calculate, complete, illustrate, show, solve, examine, modify, relate, change, classify, experiment, discover
    Analysis
    • seeing patterns
    • organization of parts
    • recognition of hidden meanings
    • identification of components
    • Question Cues:
      analyze, separate, order, explain, connect, classify, arrange, divide, compare, select, explain, infer
    Synthesis
    • use old ideas to create new ones
    • generalize from given facts
    • relate knowledge from several areas
    • predict, draw conclusions
    • Question Cues:
      combine, integrate, modify, rearrange, substitute, plan, create, design, invent, what if?, compose, formulate, prepare, generalize, rewrite
    Evaluation
    • compare and discriminate between ideas
    • assess value of theories, presentations
    • make choices based on reasoned argument
    • verify value of evidence
    • recognize subjectivity
    • Question Cues
      assess, decide, rank, grade, test, measure, recommend, convince, select, judge, explain, discriminate, support, conclude, compare, summarize

Bloom’s Taxonomy

“Taxonomy” simply means “classification”, so the well-known taxonomy of learning objectives is an attempt (within the behavioural paradigm) to classify forms and levels of learning. It identifies three “domains” of learning (see below), each of which is organised as a series of levels or pre-requisites. It is suggested that one cannot effectively — or ought not try to — address higher levels until those below them have been covered (it is thus effectively serial in structure). As well as providing a basic sequential model for dealing with topics in the curriculum, it also suggests a way of categorising levels of learning, in terms of the expected ceiling for a given programme. Thus in the Cognitive domain, training for technicians may cover knowledge, comprehension and application, but not concern itself with analysis and above, whereas full professional training may be expected to include this and synthesis and evaluation as well. 

 

  • Cognitive: the most-used of the domains, refers to knowledge structures (although sheer “knowing the facts” is its bottom level). It can be viewed as a sequence of progressive contextualisation of the material. (Based on bloom 1956)

  Your browser may not support display of this image.

 

    The model above is included because it is still common currency, but Anderson and Karth Wohl have made some apparently minor but actually significant modifications, to come up with:

    Your browser may not support display of this image.

    Revised taxonomy of the cognitive domain
    following Anderson and Krathwohl (2001)

    Note the new top category, which is about being able to create new knowledge within the domain, and the move from nouns to verbs.
    In higher education, “understand” is still—in my view—problematic in its positioning. There is a higher, contextualised level of “understanding” which comes only with attempting to evaluate ideas and to try them out in new ways, or to “create” with them. It is what I expect at Master’s level. The taxonomy is an epistemological rather than psychological hierarchy, but it also has a basic chronological element: you achieve certain levels before others. This higher, Gestalt, level of understanding comes last, in my experience: my principal evidence is in the use of research methods. The “real”, intuitive, contextualised, critical, strategic understanding only happens when you have tried to be creative within the field… Argue with me

Apologies to the reader who prefers “Analyzing”!

  • Affective: the Affective domain has received less attention, and is less intuitive than the Cognitive. It is concerned with values, or more precisely perhaps with perception of value issues, and ranges from mere awareness (Receiving), through to being able to distinguish implicit values through analysis. Karthwahl and Masia

Your browser may not support display of this image.

 

  • Psycho-Motor: Bloom never completed work on this domain, and there have been several attempts to complete it. One of the simplest versions has been suggested by Dave 1956: it fits with the Model of Developing Skill put forward by Reynolds (1965), and it also draws attention to the fundamental role of imitation in skill acquisition.

Your browser may not support display of this image.

 

 

About Cerebral Palsy

Posted in Children with physical disability by Sagir Hussain Khan on March 25, 2008

Provided by : Sagir Hussain Khan

06169

12th batch

  • Cerebral Palsy is a disorder usually caused by brain damage occurring at or before birth and marked by muscular impairment.

  • Often accompanied (found with) by poor coordination, it sometimes involves speech and learning difficulties.

  • A neurological disorder occurring before, during or right after birth resulting in difficulties of coordination, movement and/or speech.

  • Cerebral Palsy is a term used to describe any disorder of movement and posture that results from a non progressive abnormality of the immature brain.The brain may be damaged before birth, during delivery or immediately after birth due to lack of oxygen to the brain.

  • Cerebral palsy is a term used to describe a group of chronic conditions affecting body movements and muscle coordination. It is caused by damage to one or more specific areas of the brain, usually occurring during fetal development or during infancy.

5- cerebral Palsy is a non progressive condition affecting the immature brain, characterize by the movement, balance, and posture problems. (Philippine CP Incorporation)

6- Cerebral Palsy is a persistent but not unchanging disorder of movement and posture due to dysfunction of the brain, excepting that caused by progressive disease, present before its growth and development are completed. (World Commission for Cerebral Palsy)

Causes of Cerebral Palsy:

Alcohol and Poisonous Chemicals:

Alcohol and cigarette smoking have a powerfully adverse (harmful) effect on a fetus’s development and are frequently underestimated as a cause of cerebral palsy.
Fetal alcohol syndrome debilitates a number of systems and can cause cerebral palsy.  It has been estimated that eight percent of children suffering from fetal alcohol syndrome later contract cerebral palsy.  This percentage may be higher in developing nations where the abuse of alcohol may go unnoted.

Cigarette smoking cause lowers birth weight.  Low birth weight and premature birth are primary risk factors for cerebral palsy.

Cocaine and crack use by the mother during pregnancy can result in a number of serious problems for the fetus, including central nervous system damage, autism, brain damage, organ impairment, blood vessel complications, low birth weight, and premature birth.

Genetic Disorder

Genetic factors in cerebral palsy play a role as part of a multicausal pathway and as a sole source of damage.  Maternal mental retardation, motor deficit in an older sibling, maternal seizures, and more than two prior fetal deaths were all associated with cerebral palsy.  Genetic origins of cerebral palsy can surface in cultures where marriage among people related by birth or ancestry is common.  The same result occurs in locations that are small, isolated areas.  A 1991 study found such an effect among the Amish of North America.

When twins are involved, if one of the twins dies in the womb or after birth, the chance that the second twin will contract cerebral palsy increases whether they are identical twins or not.  Yet it has been estimated that if the twins are the same sex and share one placenta, the chance that both twins will suffer cerebral palsy increases.

Infections:

Human immunodeficiency virus (HIV) is one of many infectious agents that can contribute to causing cerebral palsy, though mental retardation is more often the result.  A herpes virus, cytomegalovirus, though its effect on the mother may be mild, can lead to brain damage and cerebral palsy in the child.  It has even been noted that mothers who eat cheese containing listeria (a group of bacteria) have given birth to infants who later are found to have cerebral palsy.

Immunization for rubella is a powerful, controllable variable that prevents cerebral palsy in scores of individuals.

Jaundice and Rh incompatibility:

Where Rh incompatibility occurs, the mother’s immune system attacks the child’s blood cells, destroying their ability to process bilirubin, a by-product of the breakdown of red blood cells.  The problem causes jaundice. Severe jaundice caused by incompatibility between the Rh blood types of a mother and child has resulted in brain damage and cerebral palsy, particularly athetoid cerebral palsy (slow, uncontrollable, writhing movement).

Normally, a serum, Rh immunoglobulin, can be given to the mother 72 hours after childbirth.


Low Birth weight and Preterm Birth:

Prenatal factors cause the majority of cerebral palsy casesPre-term birth and low birth weight increase the risk dramatically.

Hemorrhages within the blood vessels of the brain can result in cerebral palsy. The highest percentage of hemorrhages occurs in babies with the youngest gestational age or birth weight.  The hemorrhages can combine with other factors to cause cerebral palsy, but the bleeding alone can result in the condition.

There are several kinds of cerebral palsy, and certain types are associated with premature birth.  It has been suggested that spastic diplegia may cause premature birth by impairing growth and development of an embryo.

Malnutrition:

The lack of iodine in the salt or soil of a society can manifest itself in high rates of death, cerebral palsy (most frequently spastic diplegia), stunted body growth and mental development (cretinism), deaf mutism, motor deficits, and cognitive deficits.  If iodine is administered before conception, common forms of cerebral palsy can be prevented.

Many fats or fatty acids are essential to a healthy embryo, particularly membrane integrity.  It has been suggested that the insufficient supply of these fats because of malnutrition is a risk factor contributing to low birth weight, premature birth, slow fetal growth, and cerebral palsy.  Linoleic acid and linolenic acid are vital to brain tissue growth and blood supply infrastructure. A mother’s nutritional constellation at the time of conception can correlate powerfully with predictions of cerebral palsy.

Multiple Pregnancies:

Birth order is a risk factor for children of a multiple birth.  The later born is more vulnerable to cerebral palsy.  There are also complications during childbirth peculiar to multiple births that can manifest in fetal distress and possible brain damage.  There are specific forms of cerebral palsy that occur more frequently in multiple births, including spastic hemiplegia and spastic diplegia.  In addition, twins are more vulnerable to the effects of shortened gestational period than singletons.  Although cerebral palsy appears far more frequently in multiple births, there is no evidence that the severity of impairment is more extreme than in the case of a single birth.


Oxygen Shortage Asphyxia:

Asphyxia, insufficient oxygen to the brain, is a factor in cerebral palsy, but it is difficult to assess its role.  Loss of oxygen in the infant immediately before or during birth can be caused by several different events, including maternal conditions such as acute low blood pressure (hypotension), rupture of the umbilical cord, rupture of the uterus, cardiac complications, hemorrhage during childbirth, and trauma.  In addition, there can be damage to the baby because of abnormal presentation, difficulty in passing the shoulder, premature placental separation, umbilical cord complications, and cases where the infant head is large in proportion to the mother’s pelvis.

During birth, the baby’s brain may experience impaired blood flow and blood with less oxygen (from still developing lungs).  There can be pressure to the cranium as it goes through the birth canal, changing its shape and causing bleeding or decreasing blood flow to undamaged areas.

Thyroid:

In developed countries, abnormal maternal thyroid function during pregnancy may be a factor in cerebral palsy and neonatalencephalophy (damage to the central nervous system caused by lack of oxygen).

The thyroid gland, located near the base of the throat, secretes the thyroid hormone to control the rate at which cells function.  Thyroid disorders occur when the thyroid produces either insufficient or excessive amounts of thyroid hormone.

Too little thyroid hormone causes hypothyroidism, which slows the body’s metabolic rate and organ function.  It is the most common form of thyroid disease and affects one in ten women.  It can cause the sufferer to feel tired or cold.  It can also cause hair loss, weight gain, extremely dry skin, coarse or brittle hair and fingernails, forgetfulness, mood swings, depression, or muscular pain.  Hypothyroidism can stem from Hashimoto’s disease, in which the immune system attacks the thyroid.

Conversely, hyperthyroidism occurs when the thyroid is overactive and produces too much hormone, causing the body to function at an abnormally rapid pace.  Hyperthyroidism may produce anxiety, increased appetite, sweating, shaking, irritability, or insomnia.  Hyperthyroidism can often arise with Graves’ disease, which causes the autoimmune system to accelerate hormone production.  Frequent visible symptoms of Graves’ disease include reddening of the skin and bulging eyes.


Other Causes:

There are a number of other variables or risk factors associated with the development of cerebral palsy.  They include infant thyroid hormone levels, coagulation disorders or clotting defects in the mother or infant, vaginal bleeding, hypocalcaemia (low calcium concentration), polycythemia (increase in hemoglobin content), infant hypoglycemia (lower than normal level of glucose in the blood), the mother being exposed to radiation or methyl mercury, and delivery room depression.

Infants weighing 3.3 pounds whose mothers exhibited vaginal bleeding at the time of admission were significantly more likely to develop cerebral palsy if they were more than 29 weeks into gestation.  Premature babies may have lower than normal levels of the thyroid hormone thyroxin.  This condition, called hypothyroxinemia, may be a sign of cerebral palsy, a cause, or both.  In Britain, it has been reported that premature infants with hypoglycemia were increasingly likely to acquire cerebral palsy as their blood sugar decreased.

If a mother is undergoing radiotherapy, cerebral palsy may be engendered by the intervention.  Radon exposure in other contexts can have the same result.  There have been several cases where localized environmental damage (for example, methyl mercury poisoning) has resulted in fetal contamination and contraction of cerebral palsy.

Risk Factors:

Consider the outline below, from (Geralis, p. 14), for an introduction to the risk factors associated with cerebral palsy.

Pregnancy Risk Factors
• Maternal diabetes or hyperthyroidism
• Maternal high blood pressure
• Poor maternal nutrition
• Maternal seizures or mental retardation
• Incompetent cervix (premature dilation) leading to premature delivery
• Maternal bleeding from placenta previa (a condition in which the placenta covers a portion of the cervix leads to bleeding as the cervix dilates) or abruptio placenta (premature separation of the placenta from the uterine wall)

Delivery Risk Factors
• Premature delivery (less than 37 weeks gestation)
• Prolonged rupture of the amniotic membranes for more than 24 hours leading to fetal infection
• Severely depressed (slow) fetal heart rate during labor, indicating fetal distress
• Abnormal presentation such as breech, face, or transverse lie, which makes for a difficult delivery

Neonatal Risk Factors
• Premature birth – the earlier in gestation a baby is delivered, the more likely she is to have brain damage
• Asphyxia – insufficient oxygen to the brain due to breathing problems or poor blood flow in the brain.
• Meningitis – infection over the surface of the brain
• Seizures caused by abnormal electrical activity of the brain
• Interventricular hemorrhage (I. V. H.) – bleeding into the interior spaces of the brain or into the brain
tissue
• Periventricular encephalomalacia (P.V.L.) – damage to the brain tissue located around the ventricles
(fluid spaces) due to the lack of oxygen or problems with blood flow

Some of the techniques used to prevent cerebral palsy include constant monitoring of blood pressure and gases in the neonate and the mother, intubation, handling, suction or the airways, administering sodium bicarbonate, “blood volume expansion, pressors to reduce blood supply, sedatives, unbilical artery catheter placement, heparinization of catheters, ductal ligation, super oxide dismutase.” (Stanley, Blair & Alberman, p. 161) In the developing nations iodized salt and vaccinations have had a profound effect on lowering the incidence of cerebral palsy. All through this site you will discover interventions and supplements that have resulted in the birth and growth and of humans free of cerebral palsy.


Types of Cerebral Palsy:

The four main categories of cerebral palsy are:

· Spastic CP: Children with spastic CP have increased muscle tone. Their muscles are stiff and their movements can be awkward. Seventy to eighty percent of people with this disease have spasticity. Spastic CP is usually described further by what parts of the body are affected. In spastic diplegia, the main effect is found in both legs. In spastic hemiplegia, one side of the person’s body is affected. Spastic quadriplegia affects a person’s whole body (face, trunk, legs, and arms).

· Athetoid or dyskinetic CP: Children with athetoid CP have slow, writhing movements that they cannot control. The movements usually affect a person’s hands, arms, feet, and legs. Sometimes the face and tongue are affected and the person has a hard time talking. Muscle tone can change from day to day and can vary even during a single day. Ten to twenty percent of people with CP have the athetoid form of the condition.

· Ataxic CP: Children with ataxic CP have problems with balance and depth perception. They might be unsteady when they walk. They might have a hard time with quick movements or movements that need a lot of control, like writing. Controlling their hands or arms when they reach for something is often difficult. People with ataxic CP can have increased or decreased muscle tone.

· Mixed CP: Some people have more than one type of CP, but this is most often a mixture of spasticity and athetoid movements, with tight muscle tone and involuntary reflexes.

Symptoms of Cerebral Palsy

There are eight main symptoms of Cerebral palsy. They are:

1) Abnormal Reflex.

2) Motor Delay.

3) Abnormal tone.

4) Abnormal Strength.

5) Cognitive Deficit.

6) Associated Handicaps.

7) Posture or Balance.

8) Loss of Control or Coordination.


Early Diagnosis of Cerebral Palsy:

Diagnosing CP in an infant is often a difficult and slow process that takes time to establish with certainty, as there other health problems that can mimic the condition. The physician may suspect that the infant has CP because of a history of difficulties at birth, seizures, feeding problems or low muscle tone. Detailed medical and developmental history, including the history of the pregnancy and delivery, medications taken by the mother during fetal development, infections and fetal movement are all considered. A detailed family history, including the mother’s history of miscarriage, relatives with similar conditions, ethnic background, and consanguinity (marriage between close blood relatives) can also prove helpful. The child’s physician will perform a thorough physical examination and may order vision and hearing testing.

Infants suffering from brain injury are often slow to reach developmental milestones including rolling over, sitting up, crawling, walking and talking. Healthcare professionals are often hesitant to reach an early diagnosis because the child may recover and they may use other, less emotive terms in labeling the condition such as: neuromotor dys-function, developmental delay, motor disability, static encephalopathy and central nervous system dysfunction.

Physicians must test the child’s motor skills, using many of the techniques outlined above and looking for evidence of slow development, abnormal muscle tone, and unusual posture. Healthcare professionals will move slowly and carefully towards a positive diagnosis only after eliminating all other possible causes of the child’s condition.

Neuroimaging studies can help to evaluate brain damage and to determine those at risk of developing CP. No study exists to support definitive diagnosis of CP. Computed tomography (CT) scans provide information to help diagnose congenital malformations and intracranial hemorrhages in the infant. Magnetic resonance imaging (MRI) is most useful after two to three weeks of life, and is also used to detect brain disease in an older child.

Ultrasound in the neonate (newborn) provides information about the structures of the brain as well as diagnostic information on possible hemorrhage or hypoxicischemic (lack of oxygen) injury.

Evoked potentials are used to evaluate the anatomic pathways of the nerves responsible for hearing and vision. Electroencephalogram (EEG) is useful in evaluating severe hypoxic-ischemic injury.

Birth Deformities

Posted in Other journals by notebank12th on March 21, 2008

Depleted Uranium and Anglo-American Infanticide in the Wake of the Gulf War

Ross B. Mirkarimi, of the Arms Control Research Centre, reported in May 1992, the following hideous: �Environmental and Human Health Impacts of the Gulf Region with Special Reference to Iraq�–Abnomalities of Western Gulf War Veterans� Children From Depleted Uranium (DU) Weapons Used By the U.S. and British Military During the Gulf War.

From the President of the International Yellow Cross, Dr. Gunther, for Worldwide Dissemination.

(Warning: the following photographs are extremely disturbing. They vividly portray the ravages of war�man�s inhumanity towards man�grossly affecting infants and DNA expression. On a personal level, Dr. Gunther reported, �I have heard stories of visitors to Iraq who spoke with mid-wives there. These mid-wives are purported to have said they no longer look forward to births as…. �We don’t know what’s going to come out.��)

The pictures below show exactly what DU does.

———————————————————————————-

 

Child with almost total deformity of the face; no recognisable features at all, and what appears to be one eye situated in the middle of the forehead.

Child with hydrocephalus.

Extreme hydrocephalus; deformity of face, body and ear. The line running down the right hand side of the head would appear to show that potentially two heads were forming.

Deformity of ear; possible deformation of lower body.

Born without eyes.

I can offer no explanation as to the translucent quality of the skin other than it is possibly a result of flash photography at close range.

Huge hole in child’s back, which is, I believe, an extreme form of Spina Bifida.

 

Possibly taken shortly after birth, this picture appears to show ambiguous genitalia, sometimes referred to as ‘Non-Viable Children’.

 

This child is completely covered in a white susbstance of unknown properties. Obvious deformation of face and eyes. Flash photography at close range obscures detail.

Two children with similar deformities of the face.

Dr. Gunther refers to this condition as ‘Zyklopie.’

untitled10.JPG (38011 bytes)

Child with unknown white substance covering almost the whole body.

Front view of same child. Severe deformities of mouth and eyes. The welts appear to indicate open wounds, or unformed skin tissue.

Severe body deformity, with head formed at 90 degree angle to upper torso.

Severe hydrocephalus; again, almost as though two heads were being formed.

Flash at close range obscures detail, but this appears to show malformation of the mouth and one eye missing, with the eye socket deformed.

It isn’t clear what has happened to this child, and I have no explanation for the dark nature and condition of the skin.

Lack of focus obscures detail, but missing eyes are clearly visible, as is deformity of the mouth.

 


Horrendous deformity of entire body and head. Note lack of eyes and malformation of the hands and feet.

Child with unknown defomity of the mouth, possibly a large tumour grown during foetal stage.

gunther52.JPG (326822 bytes)

Malformation of hands, with almost total merging of all digits.

gunther53.JPG (195122 bytes)

Severe malformation of face.

Dr. Gunther refers to this condition as ‘Zyklopie.’

Severe deformity of arms.

This child was born to a US Gulf veteran.

Iraqi child with extreme hydrocephalus, and defects of cerebral nerves.

Child with previously unknown renal disease, first diagnosed in Iraq by Dr. Gunther. The speculation is that the child had played with DU ammunition casings.

Iraqi child with extreme hydrocephalus, and defects of cerebral nerves.

“Unborn children of the region [are] being asked to pay the highest price, the integrity of their DNA.”

- Ross B. Mirkarimi, The Arms Control Research Centre, from his report: �The Environmental and Human Health Impacts of the Gulf Region with Special Reference to Iraq.� May 1992

I have recently received large numbers of photographs of horrendous birth deformities that are being experienced in Iraq. I have not, quite frankly, ever seen anything like them. I urge you to copy this page / these pictures and circulate them as widely as possible.

In an act of stark cruelty, the US dominated Sanctions Committee refuses to permit Iraq to import the clean-up equipment that they desperately need to decontaminate their country of the Depleted Uranium ammunition that the US fired at them. Approximately 315 tons of DU dust was left by the use of this ammunition.The Sanctions Committee also refuses to allow the mass importation of anti-cancer treatments, which contain trace amounts of radio-isotopes, on the grounds that these constitute ‘…nuclear materials..’

The majority of the pictures were supplied to me by a source who prefers to remain anonymous at the current time. I was unable to acquire either original negatives, or prints from negatives. They arrived in the form of colour A4 copies. I scanned them into Photoshop and attempted to clean and sharpen them as best I could. There has not, and I repeat not, been any digital alteration other than the cleaning and sharpening process. No text documentation arrived with the pictures, so I have described them as accurately as I can. It is my understanding that the photographs were taken from 1998 onwards. I would be grateful to anyone who could potentially supply me with further information about these types of deformities; medical terms for them, etc.

Additional pictures were taken by Dr. Siegwart Horst-Gunther, President of the International Yellow Cross. Most appeared in his 1996 book “URANIUM PROJECTILES – SEVERELY MAIMED SOLDIERS, DEFORMED BABIES, DYING CHILDREN” (Published by AHRIMAN – Verlag, ISBN: 3-89484-805-7). The book is a documentary record of DU ammunition after-effects, and they were taken between 1993 and 1995. Dr. Gunther also supplied me with additional photographs from his unpublished collection, some of which feature the birth deformities being experienced by Western Gulf war veterans’ children. I have asked Dr. Gunther’s permission for his pictures to be treated as ‘Public Domain’ and copyright free. He has agreed and you may reproduce them as you see fit.

Both the Pentagon and the British Ministry of Defence officially deny that there is any significant danger from exposure to DU ammunition. And whilst it is conceivable that the US led attacks on Iraq’s nuclear power stations could be a contributory factor, most reseachers point to DU as the most likely source of both deformities and cancers. The rising number of cases in Iraq, particularly in the South where the greatest concentration of DU was fired, is simply staggering. Iraqi physicians have never encountered anything like it, and have made the perfectly reasonable point that similar increases in cancer and deformities were experienced in Japan after the two US atomic bomb attacks. Cancer has increased between 7 and 10 fold; deformities between 4 and 6 fold.

Yet the US was well aware of the potential effects on civilians and military personnel of the chemical toxicity and radiological properties of DU ammunition long before the Gulf war began, as the following excerpts of a US Army document categorically state:

“Aerosol DU (Depleted Uranium) exposures to soldiers on the battlefield could be significant with potential radiological and toxicological effects. [...] Under combat conditions, the most exposed individuals are probably ground troops that re-enter a battlefield following the exchange of armour-piercing munitions. [...] We are simply highlighting the potential for levels of DU exposure to military personnel during combat that would be unacceptable during peacetime operations. [...DU is..]… a low level alpha radiation emitter which is linked to cancer when exposures are internal, [and] chemical toxicity causing kidney damage. [...] Short term effects of high doses can result in death, while long term effects of low doses have been linked to cancer. [...] Our conclusion regarding the health and environmental acceptability of DU penetrators assume both controlled use and the presence of excellent health physics management practices. Combat conditions will lead to the uncontrolled release of DU. [...] The conditions of the battlefield, and the long term health risks to natives and combat veterans may become issues in the acceptability of the continued use of DU kinetic penetrators for military applications.”

- Excerpts from the July 1990 Science and Applications International Corporation report: ‘ Kinetic Energy Penetrator Environment and Health Considerations’, as included in Appenix D – US Army Armaments, Munitions and Chemical Command report: ‘Kinetic Energy Penetrator Long Term Strategy Study, July 1990′

The US was also well aware of the long-term dangers of DU contamination, and played it down, as the following memo and document make clear:

“There has been and continues to be a concern regarding the impact of DU on the environment. Therefore, if no-one makes a case for the effectiveness of DU on the battlefield, DU rounds may become politically unacceptable and thus be deleted from the arsenal. I believe we should keep this sensitive issue in mind when action reports are written.”

- Lt. Col. M.V. Ziehmn, Los Alamos National Laboratory memorandum, March 1st 1991

“Soldiers may be incidentally exposed to DU from dust and smoke on the battlefield. The Army Surgeon General has determined that it is unlikely that these soldiers will receive a significant internal DU exposure. Medical follow-up is not warranted for soldiers who experience incidental exposure from dust or smoke. [...] Since DU weapons are openly available on the world arms market, DU weapons will be used in future conflicts. The number of DU patients on future battlefields probably will be significantly higher because other countries will use systems containing DU. [...] DU is a low-level radioactive waste, and, therefore, must be disposed of in a licensed repository. [...] No international law, treaty, regulation, or custom requires the United States to remediate the Persian Gulf war battlefields.”

- Report by the US Army Environmental Policy Institute: ‘Health and Consequences of Depleted Uranium use in the US army’, June 1995

DU ammunition is now possessed by more than 12 countries, and was used during the NATO led bombing of the former Yugoslavia. Western forces stationed in the region have recently been advised not to drink the local water or eat locally produced food. Yet the British MoD continues to deny any potential risks, stating: “We have not seen any peer-reviewed epidemiological research data to support these claims [that DU is dangerous.] [...] There are no plans to remove DU-based ammunition from service.” (Source: Two letters to me from Simon Wren, Overseas Secretariat, Ministry of Defence, Whitehall, London – 20th May 1999, and 22nd March 2000)


Basics on Early Intervention

Posted in Early intervention for the child and family involvement by notebank12th on March 18, 2008

                          Basics on Early Intervention

Early intervention applies to children of school age or younger who are discovered to have or be at risk of developing a handicapping condition or other special need that may affect their development. Early intervention consists in the provision of services such children and their families for the purpose of lessening the effects of the condition. Early intervention can be remedial or preventive in nature–remediating existing developmental problems or preventing their occurrence.

Early intervention may focus on the child alone or on the child and the family together. Early intervention programs may be center-based, home-based, hospital-based, or a combination. Services range from identification–that is, hospital or school screening and referral services–to diagnostic and direct intervention programs. Early intervention may begin at any time between birth and school age; however, there are many reasons for it to begin as early as possible.

Why Intervene Early?

There are three primary reasons for intervening early with an exceptional child: to enhance the child’s development, to provide support and assistance to the family, and to maximize the child’s and family’s benefit to society.

Child development research has established that the rate of human learning and development is most rapid in the preschool years. Timing of intervention becomes particularly important when a child runs the risk of missing an opportunity to learn during a state of maximum readiness. If the most teachable moments or stages of greatest readiness are not taken advantage of, a child may have difficulty learning a particular skill at a later time. Karnes and Lee (1978) have noted that “only through early identification and appropriate programming can children develop their potential” (p. 1).

Early intervention services also have a significant impact on the parents and siblings of an exceptional infant or young child. The family of a young exceptional child often feels disappointment, social isolation, added stress, frustration, and helplessness. The compounded stress of the presence of an exceptional child may affect the family’s well-being and interfere with the child’s development. Families of handicapped children are found to experience increased instances of divorce and suicide, and the handicapped child is more likely to be abused than is a nonhandicapped child. Early intervention can result in parents having improved attitudes about themselves and their child, improved information and skills for teaching their child, and more release time for leisure and employment. Parents of gifted preschoolers also need early services so that they may better provide the supportive and nourishing environment needed by the child.

A third reason for intervening early is that society will reap maximum benefits. The child’s increased developmental and educational gains and decreased dependence upon social institutions, the family’s increased ability to cope with the presence of an exceptional child, and perhaps the child’s increased eligibility for employment, all provide economic as well as social benefits.

Is Early Intervention Really Effective?

After nearly 50 years of research, there is evidence–both quantitative (data-based) and qualitative (reports of parents and teachers)–that early intervention increases the developmental and educational gains for the child, improves the functioning of the family, and reaps long-term benefits for society. Early intervention has been shown to result in the child: (a) needing fewer special education and other habilitative services later in life; (b) being retained in grade less often; and (c) in some cases being indistinguishable from nonhandicapped classmates years after intervention.

Disadvantaged and gifted preschool-aged children benefit from early intervention as well. Longitudinal data on disadvantaged children who had participated in the Ypsilanti Perry Preschool Project showed that they had maintained significant gains at age 19 (Berrueta-Clement, Schweinhart, Barnett, Epstein, Weikart, 1984). These children were more committed to schooling and more of them finished high school and went on to postsecondary programs and employment than children who did not attend preschool. They scored higher on reading, arithmetic, and language achievement tests at all grade levels; showed a 50% reduction in the need for special education services through the end of high school; and showed fewer anti-social or delinquent behaviors outside of school. Karnes (1983) asserts that underachievement in the gifted child may be prevented by early identification and appropriate programming.

Is Early Intervention Cost Effective?

The available data emphasize the long-term cost effectiveness of early intervention. The highly specialized, comprehensive services necessary to produce the desired developmental gains are often, on a short-term basis, more costly than traditional school-aged service delivery models. However, there are significant examples of long-term cost savings that result from such early intervention programs.

* A longitudinal study of children who had participated in the Perry Preschool Project (Schweinhart and Weikart, 1980) found that when schools invest about $3,000 for 1 year of preschool education for a child, they immediately begin to recover their investment through savings in special education services. Benefits included $668 from the mother’s released time while the child attended preschool; $3,353 saved by the public schools because children with preschool education had fewer years in grades; and $10,798 n projected lifetime earnings for the child.

* Wood (1981) calculated the total cumulative costs to age 18 of special education services to child beginning intervention at: (a) birth ; (b) age 2; (c) age 6; and (d) at age 6 with no eventual movement to regular education. She found that the total costs were actually less if begun at birth! Total cost of special services begun at birth was $37,273 and total cost if begun at age 6 was between $46,816 and $53,340. The cost is less when intervention is earlier because of the remediation and prevention of developmental problems which would have required special services later in life.

* A 3-year follow-up in Tennessee showed that for every dollar spent on early treatment, $7.00 in savings were realized within 36 months. This savings resulted from deferral or special class placement and institutionalization of severe behavior disordered children (Snider, Sullivan, and Manning, 1974).

* A recent evaluation of Colorado‘s state-wide early intervention services reports a cost savings of $4.00 for every dollar spent within a 3-year period (McNulty, Smith, and Soper, 1983).

Are There Critical Features To Include In Early Intervention?

While there have been too few attempts to determine critical features of effective early intervention programs, there are a few factors which are present in most studies that report the greatest effectiveness. These program features include: (a) the age of the child at the time of intervention; (b) parent involvement ; and (c) the intensity and/or the amount of structure of the program model.

* Many studies and literature reviews report that the earlier the intervention, the more effective it is. With intervention at birth or soon after the diagnosis of a disability or high risk factors, the developmental gains are greater and the likelihood of developing problems is reduced (Cooper, 1981; Garland, Stone, Swanson, and Woodruff, 1981 ; Maisto and German, 1979; Strain, Young, and Horowitz, 1981).

* The involvement of parents in their child’s treatment is also important. The data show that parents of both handicapped and gifted preschool-aged children need the support and skills necessary to cope with their child’s special needs. Outcomes of family intervention include: (a) the parent’s ability to implement the child’s program at home; and (b) reduced stress that facilitates the health of the family. Both of these factors appear to play an important role in the success of the program with the child (Beckman-Bell, 1981; Cooper, 1981; Garland and others, 1981; Karnes, 1983; Lovaas and Koegel, 1973; Shonkoff and Hauser-Cram, 1987).

* Certain “structural” features are also related to the effectiveness of early intervention, regardless of the curriculum model employed. Successful programs are reported to be more highly structured than less successful ones (Shonkoff and Hauser-Cram, 1987; Strain and Odom, in press). That is, maximum benefits are reported in programs that: (a) clearly specify and frequently monitor child and family behavior objectives; (b) precisely identify teacher behaviors and activities that are to be used in each lesson; (c) utilize task analysis procedures; and (d) regularly use child assessment and progress data to modify instruction. In addition to structure, the intensity of the services, particularly for severely disordered children, appears to affect outcomes. Individualizing instruction and services to meet child needs also is reported to increase effectiveness. This does not necessarily mean one-to-one instruction. Rather, group activities are structured to reflect the instructional needs of each child.

Botulinum Toxin Injections: A treatment for muscle spasms

Posted in Children with physical disability,For further studies by notebank12th on March 18, 2008


Botulinum Toxin Injections: A treatment for muscle spasms

What is botulinum toxin?

Botulinum toxin is a protein that helps stop muscle spasms. Muscle spasms are caused by chemical messages sent to the muscles from nerves. These messages tell the muscles to contract (to tighten up). Botulinum toxin is used to stop muscle spasms because it blocks these messages.

Are botulinum toxin injections safe?

Botulinum toxin is made by the same bacterium that causes food poisoning. A high dose of botulinum toxin could be fatal, just as food poisoning can be fatal. However, the dose given in injections is so small that you probably won’t have any harmful effects from the toxin.Botulinum toxin has been used safely in thousands of people. It has been used for more than 10 years.

Why do I need botulinum toxin injections?

Your doctor may be considering botulinum toxin injections to treat certain muscle spasms on your face or eyelids. The injections can also be used for some eye movement disorders, such as a lazy eye. Botulinum toxin is a standard treatment for spasmodic torticollis, a muscle spasm that causes the head and neck to pull in one direction. Your doctor may use the botulinum toxin injections to treat other problems as well.

How are botulinum toxin injections given?

Botulinum toxin is mixed with saline (salt water) and injected into the muscle with a tiny needle. You may receive 5 to 10 injections.

What are some side effects of botulinum toxin injections?

You might have some soreness at the injection sites. If your injection sites get sore, you can take acetaminophen (one brand name: Tylenol) or ibuprofen (one brand name: Motrin). You can also put an ice pack on the painful area.You might also have weakness in the muscles that were injected, muscle soreness that may affect your whole body, difficulty swallowing or a red rash that lasts several days after the injections. All side effects go away quickly.

Source

Written by familydoctor.org editorial staff.

American Academy of Family Physicians

Reviewed/Updated: 06/06
Created: 09/00

Treatment of Cerebral palsy

Posted in Children with physical disability,For further studies by notebank12th on March 18, 2008

Treatment of Cerebral palsy

A multidisciplinary team of health care professionals develops an individualized treatment plan based on the patient’s needs and problems. It is imperative to involve patients, families, teachers, and caregivers in all phases of planning, decision making, and treatment.

A pediatrician, pediatric neurologist, or pediatric physiatrist (physician who specializes in physical medicine) provides primary care for children with CP. A family doctor, neurologist, or physiatrist provides primary care for adults with CP.

The primary care provider gathers input from the health care team, synthesizes the information into a comprehensive treatment plan, and follows the patient’s progress. Other specialists on the team may include:

  • Orthopedist or orthopedic surgeon to predict, diagnose, and treat associated muscle, tendon, and bone problems
  • Physical therapist to design and supervise special exercise programs for improving movement and strength
  • Speech and language pathologist to diagnose and treat communication problems
  • Occupational therapist to help the patient learn life skills for home, school, and work
  • Social worker to help patients and their families obtain community assistance, education, and training programs
  • Psychologist to help address negative or destructive behaviors, and guide the patient and his/her family through the stresses and demands presented by cerebral palsy

The need for and types of therapy change over time. Adolescents with CP may need counseling to cope with emotional and psychological challenges. Physical therapy may be supplemented with special education, vocational training, recreation, and leisure programs.

Adults may benefit from attendant care, special living accommodations, and transportation and employment assistance services, depending upon his or her intellectual and physical capabilities.

Physical Therapy
It is important for physical therapy to begin soon after diagnosis is made. Daily range of motion exercises help prevent muscles from growing weak and atrophied or rigidly fixed from contracture.

Normally, muscles and tendons stretch and grow at the same rate as bones. Spasticity can prevent stretching, and muscle growth may not keep up with bone growth. The muscles can become fixed in stiff, abnormal positions. Physical therapy, often in combination with special braces, helps prevent contracture by stretching spastic muscles. It also can improve a child’s motor development.

To prepare a child for school, the focus of therapy gradually shifts toward activities associated with daily living and communication. Exercises are designed to improve the child’s ability to sit, move independently, and perform tasks such as dressing, writing, and using the bathroom.

Orthotics can help control limb position, and walkers can help some patients walk. Mastering such skills reduces demands on caregivers and helps the child obtain some degree of self-reliance, which helps build self-esteem.

Speech therapy
Children with athetoid (dyskinetic) CP often have trouble pronouncing words (dysarthria), and swallowing (dysphagia). Difficulty with swallowing causes eating problems and drooling.

Speech therapy can help improve swallowing and communication. A speech therapist also can work with the child to learn to use special communication devices like computers with voice synthesizers.

Psychotherapy
Behavioral therapy can complement physical therapy, employing psychological techniques that encourage the mastery of tasks that promote muscular and motor development. Praise, positive reinforcement, and small rewards can encourage a child to learn to use weak limbs, overcome speech deficits, and stop negative behaviors like hair pulling and biting.

Medication
As with many forms of drug therapy, a certain amount of experimentation may be required before optimum results are achieved.

Seizures—No single drug controls all types of seizures, and no two patients respond identically to any given drug. Medications are divided into first-generation anticonvulsants (older medications) and second-generation anticonvulsants (more recently developed).



Spasticity—The muscle relaxants diazepam (Valium®) and dantrolene (Dantrium®) may be prescribed to control muscle contraction (myoclonus). These drugs reduce spasticity for short periods, and their long-term value is uncertain. The long-term effect of these drugs on a child’s developing nervous system is unknown.

Side effects of diazepam include drowsiness, slurred speech, constipation, nausea, and incontinence. Common side effects of dantrolene include drowsiness, dizziness, general weakness, and diarrhea.

The most common side effect of phenobarbitol is drowsiness. Other effects include dizziness, slowed heart rate, confusion, constipation, and nausea. Phenobarbitol and the other barbiturates can become habit forming.

Baclofen is a muscle relaxant and antispastic medication that is available in tablet and injectable forms. Intrathecal baclofen uses a very small implanted pump to deliver a steady supply of medication into the fluid around the spinal cord. Strict compliance with the refill schedule is imperative to avoid abrupt withdrawal and resulting severe complications, including death.

Side effects associated with baclofen include confusion, dizziness, drowsiness, headache, insomnia, nausea, hypotension, and urinary frequency.

Anticholinergics may be prescribed to control the abnormal movements associated with athetoid cerebral palsy. These drugs inhibit the effects of acetylcholine, a chemical in brain cells that triggers muscle contraction. The most commonly prescribed anticholinergic drugs are trihexyphenidyl (Artane®), benztropine (Cogentin®), and procyclidine hydrochloride (Kemadrin®).

Side effects associated with anticholinergic drugs include dry mouth, constipation, agitation, and painful urination (dysuria).

Botulinum toxin, or BOTOX® Cosmetic, is injected directly into muscle. BOTOX® Cosmetic blocks acetylcholine and alleviates muscle spasm for 3-6 months. Botulinum toxin may produce muscle weakness.

In some cases physicians may try to reduce spasticity or correct a developing contracture by injecting phenol into a muscle. This weakens the muscle and gives physicians and therapists a chance to stretch and lengthen the muscle with therapy, bracing, or casts. If the contracture is treated early enough, the need for surgery may be avoided.

Mechanical Aids
A variety of devices and mechanical aids can help patients with cerebral palsy overcome physical limitations. These range from simple Velcro shoe straps to motorized wheelchairs and computerized communication devices.

Computers can transform the lives of cerebral palsy patients. Fitted with a light pointer attached to a headband and a voice synthesizer, they can give a child unable to speak or write the power of communication using nothing but simple head movements.

Casting and splinting for 2-3 months can improve range of motion (ROM) of a joint and decrease muscle tone for 3-4 months.


Asperger Syndrome

Posted in Autism and multiple disability,For further studies by notebank12th on March 18, 2008

Asperger Syndrome

Asperger syndrome (AS) is an autism spectrum disorder, one of a distinct group of neurological conditions characterized by a greater or lesser degree of impairment in language and communication skills. The most distinguishing symptom of Asperger syndrome is a child’s obsessive interest in a single object or topic to the exclusion of any other. The ideal treatment for Asperger syndrome coordinates therapies that address the three core symptoms of the disorder: poor communication skills, obsessive or repetitive routines, and physical clumsiness.

Asperger Syndrome: An Introduction

Symptoms of Asperger Syndrome

Treating Asperger Syndrome

Asperger Syndrome: Prognosis

function expandToc() { document.getElementById(“toccollapsed”).style.display=”none”; document.getElementById(“tocexpanded”).style.display=””; var bkimg = document.getElementById(“tocbk”); var middle = document.getElementById(“chapterTOC”); var h = getHeight( middle ); bkimg.style.height = h + “px”; bkimg.style.width = “100%”; } function collapseToc() { document.getElementById(“toccollapsed”).style.display=””; document.getElementById(“tocexpanded”).style.display=”none”; }

Asperger Syndrome: An Introduction

Asperger syndrome (AS) is a developmental disorder. It is an autism spectrum disorder (ASD), one of a distinct group of neurological conditions characterized by a greater or lesser degree of impairment in language and communication skills, as well as repetitive or restrictive patterns of thought and behavior.

Other autism spectrum disorders include:

Unlike children with autism, children with Asperger syndrome retain their early language skills.

Symptoms of Asperger Syndrome

The most distinguishing symptom of Asperger syndrome is a child’s obsessive interest in a single object or topic to the exclusion of any other. Children with Asperger syndrome want to know everything about their topic of interest and their conversations with others will be about little else.

Their expertise, high level of vocabulary, and formal speech patterns make them seem like little professors. Other characteristics of Asperger syndrome include:

  • Repetitive routines or rituals
  • Peculiarities in speech and language
  • Socially and emotionally inappropriate behavior (and the inability to interact successfully with peers)
  • Problems with nonverbal communication
  • Clumsy and uncoordinated motor movements.

Children with Asperger syndrome are isolated because of their poor social skills and narrow interests. They may approach other people, but make normal conversation impossible by inappropriate or eccentric behavior, or by wanting only to talk about their singular interest. Children with Asperger syndrome usually have a history of developmental delays in motor skills such as pedaling a bike, catching a ball, or climbing outdoor play equipment. They are often awkward and poorly coordinated with a walk that can appear either stilted or bouncy.

Treating Asperger Syndrome

The ideal treatment for Asperger syndrome coordinates therapies that address the three core symptoms of the disorder:

  • Poor communication skills
  • Obsessive or repetitive routines
  • Physical clumsiness.

There is no single best treatment package for all children with Asperger syndrome, but most health care professionals agree that the earlier the intervention, the better.

An effective treatment program:

  • Builds on the child’s interests
  • Offers a predictable schedule
  • Teaches tasks as a series of simple steps
  • Actively engages the child’s attention in highly structured activities
  • Provides regular reinforcement of behavior.

Treatment programs may include social skills training, cognitive behavioral therapy, medication for coexisting conditions, and other measures.

Asperger Syndrome: Prognosis

With effective treatment, children with Asperger syndrome can learn to cope with their disabilities, but they may still find social situations and personal relationships challenging. Asperger syndrome is not fatal and does not affect normal life expectancy.

Many adults with Asperger syndrome are able to work successfully in mainstream jobs, although they may continue to need encouragement and moral support to maintain an independent life.

something about autism

Posted in Autism and multiple disability,For further studies by notebank12th on March 16, 2008

What is autism?

Autism (sometimes called “classical autism”) is the most common condition in a group of developmental disorders known as the autism spectrum disorders (ASDs). Autism is characterized by impaired social interaction, problems with verbal and nonverbal communication, and unusual, repetitive, or severely limited activities and interests. Other ASDs include Asperger syndrome, Rett syndrome, childhood disintegrative disorder, and pervasive developmental disorder not otherwise specified (usually referred to as PDD-NOS). Experts estimate that three to six children out of every 1,000 will have autism. Males are four times more likely to have autism than females.

What are some common signs of autism?

There are three distinctive behaviors that characterize autism. Autistic children have difficulties with social interaction, problems with verbal and nonverbal communication, and repetitive behaviors or narrow, obsessive interests. These behaviors can range in impact from mild to disabling.

The hallmark feature of autism is impaired social interaction. Parents are usually the first to notice symptoms of autism in their child. As early as infancy, a baby with autism may be unresponsive to people or focus intently on one item to the exclusion of others for long periods of time. A child with autism may appear to develop normally and then withdraw and become indifferent to social engagement.

Children with autism may fail to respond to their name and often avoid eye contact with other people. They have difficulty interpreting what others are thinking or feeling because they can’t understand social cues, such as tone of voice or facial expressions, and don’t watch other people’s faces for clues about appropriate behavior. They lack empathy.

Many children with autism engage in repetitive movements such as rocking and twirling, or in self-abusive behavior such as biting or head-banging. They also tend to start speaking later than other children and may refer to themselves by name instead of “I” or “me.” Children with autism don’t know how to play interactively with other children. Some speak in a sing-song voice about a narrow range of favorite topics, with little regard for the interests of the person to whom they are speaking.

Many children with autism have a reduced sensitivity to pain, but are abnormally sensitive to sound, touch, or other sensory stimulation. These unusual reactions may contribute to behavioral symptoms such as a resistance to being cuddled or hugged.

Children with autism appear to have a higher than normal risk for certain co-existing conditions, including fragile X syndrome (which causes mental retardation), tuberous sclerosis (in which tumors grow on the brain), epileptic seizures, Tourette syndrome, learning disabilities, and attention deficit disorder. For reasons that are still unclear, about 20 to 30 percent of children with autism develop epilepsy by the time they reach adulthood. While people with schizophrenia may show some autistic-like behavior, their symptoms usually do not appear until the late teens or early adulthood. Most people with schizophrenia also have hallucinations and delusions, which are not found in autism.

How is autism diagnosed?

Autism varies widely in its severity and symptoms and may go unrecognized, especially in mildly affected children or when it is masked by more debilitating handicaps. Doctors rely on a core group of behaviors to alert them to the possibility of a diagnosis of autism. These behaviors are:

  • impaired ability to make friends with peers
  • impaired ability to initiate or sustain a conversation with others
  • absence or impairment of imaginative and social play
  • stereotyped, repetitive, or unusual use of language
  • restricted patterns of interest that are abnormal in intensity or focus
  • preoccupation with certain objects or subjects
  • inflexible adherence to specific routines or rituals

Doctors will often use a questionnaire or other screening instrument to gather information about a child’s development and behavior. Some screening instruments rely solely on parent observations; others rely on a combination of parent and doctor observations. If screening instruments indicate the possibility of autism, doctors will ask for a more comprehensive evaluation.

Autism is a complex disorder. A comprehensive evaluation requires a multidisciplinary team including a psychologist, neurologist, psychiatrist, speech therapist, and other professionals who diagnose children with ASDs. The team members will conduct a thorough neurological assessment and in-depth cognitive and language testing. Because hearing problems can cause behaviors that could be mistaken for autism, children with delayed speech development should also have their hearing tested. After a thorough evaluation, the team usually meets with parents to explain the results of the evaluation and present the diagnosis.

Children with some symptoms of autism, but not enough to be diagnosed with classical autism, are often diagnosed with PDD-NOS. Children with autistic behaviors but well-developed language skills are often diagnosed with Asperger syndrome. Children who develop normally and then suddenly deteriorate between the ages of 3 to 10 years and show marked autistic behaviors may be diagnosed with childhood disintegrative disorder. Girls with autistic symptoms may be suffering from Rett syndrome, a sex-linked genetic disorder characterized by social withdrawal, regressed language skills, and hand wringing.

What causes autism?

Scientists aren’t certain what causes autism, but it’s likely that both genetics and environment play a role. Researchers have identified a number of genes associated with the disorder. Studies of people with autism have found irregularities in several regions of the brain. Other studies suggest that people with autism have abnormal levels of serotonin or other neurotransmitters in the brain. These abnormalities suggest that autism could result from the disruption of normal brain development early in fetal development caused by defects in genes that control brain growth and that regulate how neurons communicate with each other. While these findings are intriguing, they are preliminary and require further study. The theory that parental practices are responsible for autism has now been disproved.

What role does inheritance play?

Recent studies strongly suggest that some people have a genetic predisposition to autism. In families with one autistic child, the risk of having a second child with the disorder is approximately 5 percent, or one in 20. This is greater than the risk for the general population. Researchers are looking for clues about which genes contribute to this increased susceptibility. In some cases, parents and other relatives of an autistic child show mild impairments in social and communicative skills or engage in repetitive behaviors. Evidence also suggests that some emotional disorders, such as manic depression, occur more frequently than average in the families of people with autism.

Do symptoms of autism change over time?

For many children, autism symptoms improve with treatment and with age. Some children with autism grow up to lead normal or near-normal lives. Children whose language skills regress early in life, usually before the age of 3, appear to be at risk of developing epilepsy or seizure-like brain activity. During adolescence, some children with autism may become depressed or experience behavioral problems. Parents of these children should be ready to adjust treatment for their child as needed.

How is autism treated?

There is no cure for autism. Therapies and behavioral interventions are designed to remedy specific symptoms and can bring about substantial improvement. The ideal treatment plan coordinates therapies and interventions that target the core symptoms of autism: impaired social interaction, problems with verbal and nonverbal communication, and obsessive or repetitive routines and interests. Most professionals agree that the earlier the intervention, the better.

  • Educational/behavioral interventions: Therapists use highly structured and intensive skill-oriented training sessions to help children develop social and language skills. Family counseling for the parents and siblings of children with autism often helps families cope with the particular challenges of living with an autistic child.
  • Medications: Doctors often prescribe an antidepressant medication to handle symptoms of anxiety, depression, or obsessive-compulsive disorder. Anti-psychotic medications are used to treat severe behavioral problems. Seizures can be treated with one or more of the anticonvulsant drugs. Stimulant drugs, such as those used for children with attention deficit disorder (ADD), are sometimes used effectively to help decrease impulsivity and hyperactivity.
  • Other therapies: There are a number of controversial therapies or interventions available for autistic children, but few, if any, are supported by scientific studies. Parents should use caution before adopting any of these treatments.

What research is being done?

The National Institute of Neurological Disorders and Stroke (NINDS) is one of the federal government’s leading supporters of biomedical research on brain and nervous system disorders. The NINDS conducts research in its laboratories at the National Institutes of Health in Bethesda, Maryland , and also awards grants to support research at universities and other facilities.

As part of the Children’s Health Act of 2000, the NINDS and three sister institutes have formed the NIH Autism Coordinating Committee to expand, intensify, and coordinate NIH’s autism research. Eight dedicated research centers across the country have been established as “Centers of Excellence in Autism Research” to bring together researchers and the resources they need. The Centers are conducting basic and clinical research, including investigations into causes, diagnosis, early detection, prevention, and treatment, such as the studies highlighted below:

  • investigators are using animal models to study how the neurotransmitter serotonin establishes connections between neurons in hopes of discovering why these connections are impaired in autism
  • researchers are testing a computer-assisted program that would help autistic children interpret facial expressions
  • a brain imaging study is investigating areas of the brain that are active during obsessive/repetitive behaviors in adults and very young children with autism
  • other imaging studies are searching for brain abnormalities that could cause impaired social communication in children with autism
  • clinical studies are testing the effectiveness of a program that combines parent training and medication to reduce the disruptive behavior of children with autism and other ASDs

 

Tutorial for Cerebral Palsy

Posted in Children with physical disability,For further studies by notebank12th on March 16, 2008

Cerebral palsy

Dr Trisha Macnair
Dr Rob Hicks

Cerebral palsy isn’t a particular disease or illness. The term means a physical condition that affects movement as a result of an injury to the brain. Every person with cerebral palsy is affected in a different way.

What is it?

There are several different types of cerebral palsy. While some people are severely affected, others have only minor disruption, depending on which parts of the brain have been damaged.

The main types of cerebral palsy are:

  • Spastic cerebral palsy – some of the muscles in the body are tight, stiff and weak, making control of movement difficult
  • Athetoid (dyskinetic) cerebral palsy – control of muscles is disrupted by spontaneous and unwanted movements. Control of posture is also disrupted
  • Ataxic cerebral palsy – problems include difficulty with balance, shaky movements of hands or feet, and difficulty with speech
  • Mixed cerebral palsy – a combination of two or more of the above


What are the symptoms?

The symptoms of CP may take some months to become apparent and depend on the type.

There may be abnormal tone (stiffness or floppiness) of the limbs and odd postures.

In spastic cerebral palsy (70 per cent of cases), the limbs become stiff and may be drawn in. In athetoid cerebral palsy (10 per cent of cases), the child develops involuntary irregular writhing movements.

There may be incoordination of the muscles of the mouth, causing feeding problems such as slow feeding, gagging and vomiting, delayed motor milestones, such as crawling and walking, weakness or paralysis of the limbs, an abnormal gait and slowness in developing speech and social skills.

As many as one in three children and adolescents with cerebral palsy also has epilepsy.

Other common problems include:

  • Difficulty with walking, writing, eating, talking, dressing
  • Problems with balance and coordination
  • Difficulty controlling and maintaining posture (they may need help to sit upright)
  • Visual difficulties
  • Hearing problems


A common misconception is that people with cerebral palsy inevitably have learning difficulties. This may have arisen because people with cerebral palsy can have problems controlling their facial movements and speech, and it can be difficult to understand them at first.

However, just as in the rest of the population, there’s a range of intelligence. Some people with cerebral palsy have moderate or even severe learning difficulties, while others are extremely intelligent.

What causes it?

It’s easiest to think of cerebral palsy as a condition in which part of the brain hasn’t developed properly. This might be because of a variery of events occurring before, during or after birth.

Most people think of cerebral palsy as a condition caused by problems during labour and birth. However, it’s now generally accepted that complications at this time are an important factor in a only minority of cases, around one in ten.

The most common cause of cerebral palsy is something that damages the brain while the baby is growing in the womb. These antenatal factors can be found in 80 per cent of those affected and include genetic problems, malformations of the brain and maternal infection (rubella, toxoplasmosis).

Better maternity care has meant fewer babies are born with cerebral palsy due to birth trauma, but this has been offset by the improved survival of premature and low birthweight babies, who may be up to 50 times more at risk of cerebral palsy.

Infections when a baby is young (especially encephalitis or meningitis) can also lead to cerebral palsy.

In a number of cases, it’s difficult to pin down the exact cause with any certainty.

What’s the treatment?

There’s no cure for cerebral palsy. However, there are plenty of treatments and therapies that can reduce the impact of the condition by easing symptoms such as spasticity, improving communication skills and finding other ways to do things.

Physiotherapy, occupational therapy and speech therapy can all play an important part. Find out more from Scope, a charity that focuses on cerebral palsy.

Children with cerebral palsy do best when they get special help from an early age. Because the brain changes a lot during the first few years of life, it can be difficult to assess the extent of cerebral palsy at first, but most experts suggest babies should be first assessed at about nine to 12 months.

Many children with cerebral palsy benefit from an approach known as conductive education, which helps them to overcome movement problems and gain some control through special education and rehabilitation. Adults can get a lot from it, too.

Speech and language therapy helps with speech development and also with eating, drinking, and swallowing.

Surgery is sometimes needed to correct any deformities that develop as a result of abnormal muscle development or function.

Medication can reduce muscle hyperactivity and spasticity, but physiotherapy is the bedrock of cerebral palsy management and can helps with posture and movement. It also tries to prevent progression of disability.

Occupational therapy helps children overcome difficulties performing everyday tasks, encouraging them to lead independent lives.

With help, most people with cerebral palsy are able to live much the same sort of lives as everyone else. They may have to work a bit harder to overcome practical problems, but most things are possible.

This article was last medically reviewed by Dr Rob Hicks in January 2008


Assessment basic

Posted in assessment and measurement,For further studies by notebank12th on March 16, 2008

Assessment is the process of documenting, usually in measurable terms, knowledge, skills, attitudes and beliefs. This article covers educational assessment including the work of institutional researchers, but the term applies to other fields as well including health and finance.

Types of assessment

Assessments can be classified in many different ways. The most important distinctions are:

1. formative and summative;

2. objective and subjective;

3. criterion-referenced and norm-referenced; and

4. Informal and formal.

Formative and summative assessments

There are two main types of assessment:

  • Summative Assessment – Summative assessment is generally carried out at the end of a course or project. In an educational setting, summative assessments are typically used to assign students a course grade.
  • Formative Assessment – Formative assessment is generally carried out throughout a course or project. Formative assessment is used to aid learning. In an educational setting, formative assessment might be a teacher (or peer) or the learner, providing feedback on a student’s work, and would not necessarily be used for grading purposes.

Summative and formative assessment are refered to in a learning context as “assessment of learning” and “assessment for learning” respectively.

A common form of formative assessment is diagnostic assessment. Diagnostic assessment measures a student’s current knowledge and skills for the purpose of identifying a suitable program of learning. Self-assessment is a form of diagnostic assessment which involves students assessing themselves.

Objective and subjective assessment

Assessment (either summative or formative) can be objective or subjective. Objective assessment is a form of questioning which has a single correct answer. Subjective assessment is a form of questioning which may have more than one current answer (or more than one way of expressing the correct answer). There are various types of objective and subjective questions. Objective question types include true/false, multiple choice, multiple-response and matching questions. Subjective questions include extended-response questions and essays. Objective assessment is becoming more popular due to the increased use of online assessment (e-assessment) since this form of questioning is well-suited to computerization.

Criterion-referenced and norm-referenced assessments

Criterion-referenced assessment, typically using a criterion-referenced test, as the name implies, occurs when candidates are measured against defined (and objective) criteria. Criterion-referenced assessment is often, but not always, used to establish a person’s competence (whether s/he can do something). The best known example of criterion-referenced assessment is the driving test, when learner drivers are measured against a range of explicit criteria (such as “Not endangering other road users”). Norm-referenced assessment (colloquially known as “grading on the curve“), typically using a norm-referenced test, is not measured against defined criteria. This type of assessment is relative to the student body undertaking the assessment. It is effectively a way of comparing students. The IQ test is the best known example of norm-referenced assessment. Many entrance tests (to prestigious schools or universities) are norm-referenced, permitting a fixed proportion of students to pass (“passing” in this context means being accepted into the school or university rather than an explicit level of ability). This means that standards may vary from year to year, depending on the quality of the cohort; criterion-referenced assessment does not vary from year to year (unless the criteria change).

Informal and formal assessment

Assessment can be either formal or informal. Formal assessment usually a written document, such as a test, quiz, or paper. Formal assessment is given a numerical score or grade based on student performance. Whereas, informal assessment does not contribute to a student’s final grade. It usually occurs in an more casual manner, including observation, inventories, participation, peer and self evaluation, and discussion.

Characteristics of assessments

Assessment should be valid and reliable. A valid assessment is one which measures what it is intended to measure. For example, it would not be valid to assess driving skills through a written test (alone); the most valid way of assessing driving skills would be through a combination of practical assessment and written test. Teachers frequently complain that some examinations do not properly assess the syllabus upon which the examination is based; they are, effectively, questioning the validity of the exam.

Reliability relates to the consistency of an assessment. A reliable assessment is one which consistently achieves the same results with the same (or similar) cohort of students. Various factors affect reliability — including ambiguous questions, too many options within a question paper, vague marking instructions and poorly trained markers.

A good assessment is valid and reliable. Note that an assessment may be reliable but invalid or unreliable and invalid, but an assessment can not be unreliable and valid. In practice, an assessment is rarely completely valid or entirely reliable.

Although validity and reliability are the main measures of an assessment, there are other considerations such as practicality (which relates to the feasibility of the assessment), fairness (which relates to its application across various cohorts – such as males and females) and authenticity (which relates to its realism).


Follow

Get every new post delivered to your Inbox.