Tag Archives: Autism

Erodium moschatum

Botanical Name: Erodium moschatum
Family: 
Geraniaceae
Genus: 
Erodium
Species:
E. moschatum
Kingdom:
Plantae
Order: 
Geraniales

Common Names: Musk stork’s-bill and Whitestem filaree

Habitat: Erodium moschatum is native to Mediterranean areas and southwestern Europe, including Britain. It grows on the waste places and rocky ground, mainly near the sea in Britain, mainly near the southern coast.

Description:
Erodium moschatum is an annual/biennial plant growing to 0.5 m (1ft 8in). The young plant starts with a flat rosette of compound leaves, each leaf up to 15 centimeters long with many oval-shaped highly lobed and toothed leaflets along a central vein which is hairy, white, and stemlike. The plant grows to a maximum of about half a meter in height with plentiful fuzzy green foliage. The small flowers have five sepals behind five purple or lavender petals, each petal just over a centimeter long. The filaree fruit has a small, glandular body with a long green style up to 4 centimeters in length.

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It is in flower from Jul to August, and the seeds ripen from Aug to September. The flowers are hermaphrodite (have both male and female organs) and are pollinated by Insects.Suitable for: light (sandy) and medium (loamy) soils and prefers well-drained soil. Suitable pH: neutral and basic (alkaline) soils. It cannot grow in the shade. It prefers dry or moist soil. The plant can tolerate maritime exposure.
Cultivation:
Prefers a sunny well-drained position and a limy soil or at least one that is not acid. The bruised leaves emit a strong scent of musk.

Propagation:
Seed – sow in situ as soon as the seed is ripe in the late summer. The seed can also be sown in situ in late spring. It usually germinates readily.
Edible Uses: ..Leaves – raw or cooked. Added to salads or used as a potherb.

Medicinal Uses:….The plant is febrifuge. A tincture of the plant is used in the treatment of dysentery.

Other Uses:...Dye….A green dye can be obtained from the whole plant. It does not require a mordant.

Disclaimer : The information presented herein is intended for educational purposes only. Individual results may vary, and before using any supplement, it is always advisable to consult with your own health care provider.

Resources:
https://en.wikipedia.org/wiki/Erodium_moschatum
http://www.pfaf.org/user/Plant.aspx?LatinName=Erodium+moschatum

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Alagille Syndrome


Description:
Alagille syndrome is a genetic disorder that affects the liver, heart, kidney, and other systems of the body. Problems associated with the disorder generally become evident in infancy or early childhood. The disorder is inherited in an autosomal dominant pattern, and the estimated prevalence of Alagille syndrome is 1 in every 100,000 live births.It is named after Daniel Alagille.

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A person with Alagille syndrome has fewer than the normal number of small bile ducts inside the liver. The liver is the organ in the abdomen—the area between the chest and hips—that makes blood proteins and bile, stores energy and nutrients, fights infection, and removes harmful chemicals from the blood.

Bile ducts are tubes that carry bile from the liver cells to the gallbladder for storage and to the small intestine for use in digestion. Bile is fluid made by the liver that carries toxins and waste products out of the body and helps the body digest fats and the fat-soluble vitamins A, D, E, and K. In people with Alagille syndrome, the decreased number of bile ducts causes bile to build up in the liver, a condition also called cholestasis, leading to liver damage and liver disease.

The digestive system:
The digestive system is made up of the gastrointestinal (GI) tract—also called the digestive tract—and the liver, pancreas, and gallbladder. The GI tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anus. The hollow organs that make up the GI tract are the mouth, esophagus, stomach, small intestine, large intestine—which includes the colon and rectum—and anus. Food enters the mouth and passes to the anus through the hollow organs of the digestive system. The liver, pancreas, and gallbladder are the solid organs of the digestive system. The digestive system helps the body digest food.
Symptoms:
The symptoms of Alagille syndrome and their severity vary, even among people in the same family sharing the same gene mutation.

Liver:  In some people, problems in the liver may be the first signs and symptoms of the disorder. These symptoms can occur in children and adults and in infants as early as the first 3 months of life.
Jaundice. Jaundice—when the skin and whites of the eyes turn yellow—is a result of the liver not removing bilirubin from the blood. Bilirubin is a reddish-yellow substance formed when hemoglobin breaks down. Hemoglobin is an iron-rich protein that gives blood its red color. Bilirubin is absorbed by the liver, processed, and released into bile. Blockage of the bile ducts forces bilirubin and other elements of bile to build up in the blood.
Jaundice may be difficult for parents and even health care providers to detect. Many healthy newborns have mild jaundice during the first 1 to 2 weeks of life due to an immature liver. This normal type of jaundice disappears by the second or third week of life, whereas the jaundice of Alagille syndrome deepens. Newborns with jaundice after 2 weeks of life should be seen by a health care provider to check for a possible liver problem.
Dark urine and gray or white stools. High levels of bilirubin in the blood that pass into the urine can make the urine darker, while stool lightens from a lack of bilirubin reaching the intestines. Gray or white bowel movements after 2 weeks of age are very reliable signs of a liver problem.
Pruritus. The buildup of bilirubin in the blood may cause itching, also called pruritus. Pruritus usually starts after 3 months of age and can be severe.
Xanthomas. Xanthomas are fatty deposits that appear as yellow bumps on the skin. They are caused by abnormally high cholesterol levels in the blood, common in people with liver disease. Xanthomas may appear anywhere on the body. However, xanthomas are usually found on the elbows, joints, tendons, knees, hands, feet, or buttocks.
Other Symptoms of Alagille Syndrome are:
Certain signs of Alagille syndrome are unique to the disorder, including those that affect the vertebrae and facial features.

Face.  Many children with Alagille syndrome have deep-set eyes, a straight nose, a small and pointed chin, large ears, and a prominent, wide forehead. These features are not usually recognized until after infancy. By adulthood, the chin is more prominent.

Eyes. Posterior embryotoxon is a condition in which an opaque ring is present in the cornea, the transparent covering of the eyeball. The abnormality is common in people with Alagille syndrome, though it usually does not affect vision.

Skeleton. The most common skeletal defect in a person with Alagille syndrome is when the shape of the vertebrae—bones of the spine—gives the appearance of flying butterflies. This defect, known as “butterfly” vertebrae, rarely causes medical problems or requires treatment.

Heart and blood vessels. People with Alagille syndrome may have the following signs and symptoms having to do with the heart and blood vessels:

heart murmur—an extra or unusual sound heard during a heartbeat. A heart murmur is the most common sign of Alagille syndrome other than the general symptoms of liver disease.1 Most people with Alagille syndrome have a narrowing of the blood vessels that carry blood from the heart to the lungs.1 This narrowing causes a murmur that can be heard with a stethoscope. Heart murmurs usually do not cause problems.

heart walls and valve problems. A small number of people with Alagille syndrome have serious problems with the walls or valves of the heart. These conditions may need treatment with medications or corrective surgery.

blood vessel problems. People with Alagille syndrome may have abnormalities of the blood vessels in the head and neck. This serious complication can lead to internal bleeding or stroke. Alagille syndrome can also cause narrowing or bulging of other blood vessels in the body.
Kidney disease. A wide range of kidney diseases can occur in Alagille syndrome. The kidneys are two bean-shaped organs, each about the size of a fist, that filter wastes and extra fluid from the blood. Some people have small kidneys or have cysts—fluid-filled sacs—in the kidneys. Kidney function can also decrease.
Causes:
Alagille syndrome is caused by a gene mutation, or defect. Genes provide instructions for making proteins in the body. A gene mutation is a permanent change in the DNA sequence that makes up a gene. DNA, or deoxyribonucleic acid, is the material inside cells that carries genetic information and passes genes from parent to child. Approximately 30 to 50 percent of people with Alagille syndrome have an inherited gene mutation, meaning it has been passed on by a parent. In the remaining cases, the gene mutation develops spontaneously.1 In spontaneous cases, neither parent carries a copy of the mutated gene.

Most cases of Alagille syndrome are caused by a mutation in the JAGGED1 (JAG1) gene. In less than 1 percent of cases, a mutation in the NOTCH2 gene is the cause.2

1Spinner NB, Leonard LD, Krantz ID. Alagille syndrome. GeneReviews website. www.ncbi.nlm.nih.gov/books/NBK1273/External NIH Link. Updated February 28, 2013. Accessed July 16, 2014.

2Kamath BM, Bauer RC, Loomes KM, et al. NOTCH2 mutations in Alagille syndrome. Journal of Medical Genetics. 2012;49(2):138–144.
Genetic Disorders: 
Each cell contains thousands of genes that provide the instructions for making proteins for growth and repair of the body. If a gene has a mutation, the protein made by that gene may not function properly, which sometimes creates a genetic disorder. Not all gene mutations cause a disorder.

People have two copies of most genes; one copy is inherited from each parent. A genetic disorder occurs when one or both parents pass a mutated gene to a child at conception. A genetic disorder can also occur through a spontaneous gene mutation, meaning neither parent carries a copy of the mutated gene. Once a spontaneous gene mutation has occurred in a person, it can be passed to the person’s children.
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Complications:
The complications of Alagille syndrome include liver failure, portal hypertension, and growth problems. People with Alagille syndrome usually have a combination of complications, and may not have every complication listed below.:-

Liver failure. Over time, the decreased number of bile ducts may lead to chronic liver failure, also called end-stage liver disease. This condition progresses over months, years, or even decades. The liver can no longer perform important functions or effectively replace damaged cells. A person may need a liver transplant. A liver transplant is surgery to remove a diseased or an injured liver and replace it with a healthy whole liver or a segment of a liver from another person, called a donor.

Portal hypertension. The spleen is the organ that cleans blood and makes white blood cells. White blood cells attack bacteria and other foreign cells. Blood flow from the spleen drains directly into the liver. When a person with Alagille syndrome has advanced liver disease, the blood flow backs up into the spleen and other blood vessels. This condition is called portal hypertension. The spleen may become larger in the later stages of liver disease. A person with an enlarged spleen should avoid contact sports to protect the organ from injury. Advanced portal hypertension can lead to serious bleeding problems.

Growth problems. Alagille syndrome can lead to poor growth in infants and children, as well as delayed puberty in older children. Liver disease can cause malabsorption, which can result in growth problems. Malabsorption is the inability of the small intestine to absorb nutrients from foods, which results in protein, calorie, and vitamin deficiencies. Serious heart problems, if present in Alagille syndrome, can also affect growth.

Malabsorption. People with Alagille syndrome may have diarrhea—loose, watery stools—due to malabsorption. The condition occurs because bile is necessary for the digestion of food. Malabsorption can lead to bone fractures, eye problems, blood-clotting problems, and learning delays.

Long-term Outlook:
The long-term outlook for people with Alagille syndrome depends on several factors, including the severity of liver damage and heart problems. Predicting who will experience improved bile flow and who will progress to chronic liver failure is difficult. Ten to 30 percent of people with Alagille syndrome will eventually need a liver transplant.

Many adults with Alagille syndrome whose symptoms improve with treatment lead normal, productive lives. Deaths in people with Alagille syndrome are most often caused by chronic liver failure, heart problems, and blood vessel problems.

Diagnosis:
The Doctor diagnoses Alagille syndrome by performing a thorough physical examination of the patient and ordering one or more of the following tests and exams:

Blood test. A blood test involves drawing blood at a health care provider’s office or a commercial facility and sending the sample to a lab for analysis. The blood test can show nutritional status and the presence of liver disease and kidney function.

Urinalysis. Urinalysis is the testing of a urine sample. The urine sample is collected in a special container in a health care provider’s office or a commercial facility and can be tested in the same location or sent to a lab for analysis. Urinalysis can show many problems of the urinary tract and other body systems. The sample may be observed for color, cloudiness, or concentration; signs of drug use; chemical composition, including glucose; the presence of protein, blood cells, or bacteria; or other signs of disease.

X ray. An x ray is a picture created by using radiation and recorded on film or on a computer. The amount of radiation used is small. An x-ray technician performs the x ray at a hospital or an outpatient center, and a radiologist—a doctor who specializes in medical imaging—interprets the images. Anesthesia is not needed. The patient will lie on a table or stand during the x ray. The technician positions the x-ray machine over the spine area to look for “butterfly” vertebrae. The patient will hold his or her breath as the picture is taken so that the picture will not be blurry. The patient may be asked to change position for additional pictures.

Abdominal ultrasound. Ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure. The transducer can be moved to different angles to make it possible to examine different organs. In abdominal ultrasound, the health care provider applies a gel to the patient’s abdomen and moves a handheld transducer over the skin. The gel allows the transducer to glide easily, and it improves the transmission of the signals. A specially trained technician performs the procedure in a health care provider’s office, an outpatient center, or a hospital, and a radiologist interprets the images; anesthesia is not needed. The images can show an enlarged liver or rule out other conditions.

Cardiology exam. A cardiologist—a doctor who treats people who have heart problems—performs a cardiology exam in a health care provider’s office, an outpatient center, or a hospital. During a full exam, a cardiologist may inspect the patient’s physical appearance, measure pulse rate and blood pressure, observe the jugular vein, check for rapid or skipped heartbeats, listen for variations in heart sounds, and listen to the lungs.

Slit-lamp exam. An ophthalmologist—a doctor who diagnoses and treats all eye diseases and eye disorders—performs a slit-lamp exam to diagnose posterior embryotoxon. The ophthalmologist examines the eye with a slit lamp, a microscope combined with a high-intensity light that shines a thin beam on the eye. While sitting in a chair, the patient will rest his or her head on the slit lamp. A yellow dye may be used to examine the cornea and tear layer. The dye is applied as a drop, or the specialist may touch a strip of paper stained with the dye to the white of the patient’s eye. The specialist will also use drops in the patient’s eye to dilate the pupil.

Liver biopsy. A liver biopsy is a procedure that involves taking a piece of liver tissue for examination with a microscope for signs of damage or disease. The health care provider may ask the patient to stop taking certain medications temporarily before the liver biopsy. The patient may be asked to fast for 8 hours before the procedure.

During the procedure, the patient lies on a table, right hand resting above the head. A local anesthetic is applied to the area where the biopsy needle will be inserted. If needed, sedatives and pain medication are also given. The health care provider uses a needle to take a small piece of liver tissue. The health care provider may use ultrasound, computerized tomography scans, or other imaging techniques to guide the needle. After the biopsy, the patient should lie on the right side for up to 2 hours and is monitored an additional 2 to 4 hours before being sent home.

Genetic testing. The health care provider may refer a person suspected of having Alagille syndrome to a geneticist—a doctor who specializes in genetic disorders. For a genetic test, the geneticist takes a blood or saliva sample and analyzes the DNA for the JAG1 gene mutation. The geneticist tests for the JAG1 gene mutation first, since it is more common in Alagille syndrome than NOTCH2. Genetic testing is often done only by specialized labs. The results may not be available for several months because of the complexity of the testing.

The usefulness of genetic testing for Alagille syndrome is limited by two factors:

*Detection of a mutated gene cannot predict the onset of symptoms or how serious the disorder will be.

*Even if a mutated gene is found, no specific cure for the disorder exists.

When to Consider Genetic Counseling:
People who are considering genetic testing may want to consult a genetics counselor. Genetic counseling can help family members understand how test results may affect them individually and as a family. Genetic counseling is provided by genetics professionals—health care professionals with specialized degrees and experience in medical genetics and counseling. Genetics professionals include geneticists, genetics counselors, and genetics nurses.

Genetics professionals work as members of health care teams, providing information and support to individuals or families who have genetic disorders or a higher chance of having an inherited condition. Genetics professionals

*assess the likelihood of a genetic disorder by researching a family’s history, evaluating medical records, and conducting a physical exam of the patient and
*other family members

*weigh the medical, social, and ethical decisions surrounding genetic testing

*provide support and information to help a person make a decision about testing

*interpret the results of genetic tests and medical data

*provide counseling or refer individuals and families to support services

*serve as patient advocates

*explain possible treatments or preventive measures

*discuss reproductive options

Genetic counseling may be useful when a family member is deciding whether to have genetic testing and again later when test results are available.

Treatment:
Treatment for Alagille syndrome includes medications and therapies that increase the flow of bile from the liver, promote growth and development in infants’ and children’s bodies, correct nutritional deficiencies, and reduce the person’s discomfort. Ursodiol (Actigall, Urso) is a medication that increases bile flow. Other treatments address specific symptoms of the disorder.

Liver failure. People with Alagille syndrome who develop end-stage liver failure need a liver transplant with a whole liver from a deceased donor or a segment of a liver from a living donor. People with Alagille syndrome who also have heart problems may not be candidates for a transplant because they could be more likely to have complications during and after the procedure. A liver transplant surgical team performs the transplant in a hospital.

Pruritus. Itching may decrease when the flow of bile from the liver is increased. Medications such as cholestyramine (Prevalite), rifampin (Rifadin, Rimactane), naltrexone (Vivitrol), or antihistamines may be prescribed to relieve pruritus. People should hydrate their skin with moisturizers and keep their fingernails trimmed to prevent skin damage from scratching. People with Alagille syndrome should avoid baths and take short showers to prevent the skin from drying out.

If severe pruritus does not improve with medication, a procedure called partial external biliary diversion may provide relief from itching. The procedure involves surgery to connect one end of the small intestine to the gallbladder and the other end to an opening in the abdomen—called a stoma—through which bile leaves the body and is collected in a pouch. A surgeon performs partial external biliary diversion in a hospital. The patient will need general anesthesia.

Malabsorption and growth problems. Infants with Alagille syndrome are given a special formula that helps the small intestine absorb much-needed fat. Infants, children, and adults can benefit from a high-calorie diet, calcium, and vitamins A, D, E, and K. They may also need additional zinc. If someone with Alagille syndrome does not tolerate oral doses of vitamins, a health care provider may give the person injections for a period of time. A child may receive additional calories through a tiny tube that is passed through the nose into the stomach. If extra calories are needed for a long time, a health care provider may place a tube, called a gastrostomy tube, directly into the stomach through a small opening made in the abdomen. A child’s growth may improve with increased nutrition and flow of bile from the liver.

Xanthomas. For someone who has Alagille syndrome, these fatty deposits typically worsen over the first few years of life and then improve over time. They may eventually disappear in response to partial external biliary diversion or the medications used to increase bile fl

Prevention:
Scientists have not yet found a way to prevent Alagille syndrome. However, complications of the disorder can be managed with the help of Doctors. Routine visits with Doctor are needed to prevent complications from becoming worse.

Hope through Research:The National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) and other Institutes of the National Institutes of Health (NIH) conduct and support research in digestive disorders, including Alagille syndrome. For example, the NIDDK is sponsoring a study called Evaluating the Genetic Causes and Progression of Cholestatic Liver Diseases (LOGIC). Funded under NIH clinical trial number NCT00571272, LOGIC will investigate the progression of cholestatic liver diseases, which can sometimes be caused by Alagille syndrome. The study will work to provide a better understanding of the causes and effects of these liver diseases, which will promote the development of prevention tactics and treatment strategies.

Clinical trials are research studies involving people. Clinical trials look at safe and effective new ways to prevent, detect, or treat disease. Researchers also use clinical trials to look at other aspects of care, such as improving the quality of life for people with chronic illnesses. To learn more about clinical trials, why they matter, and how to participate, visit the NIH Clinical Research Trials and You website at www.nih.gov/health/clinicaltrialsExternal NIH Link. For information about current studies,…click & see

Disclaimer: This information is not meant to be a substitute for professional medical advise or help. It is always best to consult with a Physician about serious health concerns. This information is in no way intended to diagnose or prescribe remedies.This is purely for educational purpose.
Resources:
http://en.wikipedia.org/wiki/Alagille_syndrome
http://www.niddk.nih.gov/health-information/health-topics/liver-disease/Alagille-Syndrome/Pages/facts.aspx

 

Old and Orgetful

The recent elections threw up a spate of experienced “senior citizen” politicians, astute, informed and ready with verbal repartee. They are part of the 4.5 per cent of our population over the age of 65 years. They present a stark contrast to many other senior citizens who cannot remember what was said to them a few minutes ago, though the past is still very vivid and easily recollected. Questions get repeated over and over and answers are irrelevant. Words seem lost, forgotten or are inappropriate. These individuals no longer seem to follow a logical train of thought. Their personalities change for the worse and they become short-tempered and difficult to deal with.
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Such people may struggle with 21st century gadgets such as microwaves, mobile phones and remote controls, which seem to make their life more complicated. Keeping track of medication becomes a logistic nightmare. Falls with injury and fractures occur as balance and co-ordination become faulty.

People fitting this description are loosely classified as suffering from dementia, a Latin word that means “deprived of mind”. Dementia may be due to many causes. Alzheimer’s disease is the commonest type of dementia and is the diagnosis in 50 per cent of the cases.

Dementia occurs in the elderly as brain cells deteriorate with age. Chemical messengers in the brain, essential for its proper functioning, become depleted and chromosomes shorten. Many of these changes are inevitable and irreversible.

Young people may develop symptoms similar to dementia, but in their case it usually occurs as a sequel to a brain infection (encephalitis or meningitis), brain trauma owing to an accident or a sport like boxing, bleeding in the brain (subdural haematoma), poisoning with lead or other heavy metals, or lack of sufficient thyroid hormone (hypothyroidism). The dementia is often cured if the underlying condition is treated successfully.

Recently, some types of dementia have been found to have a genetic basis. Many members of an affected family carry certain gene mutations that are passed on through the generations. Scientists are now beginning to identify these defects.

The risk of developing dementia increases if the lifestyle involves excessive alcohol consumption, smoking, a sustained elevated abnormal lipid profile, uncontrolled hypertension or diabetes. Heart or lung diseases, which compromise blood supply to the brain, also accelerate dementia.

The diagnosis of dementia is based on medical history and an evaluation of orientation, general intellectual, academic and language skills, memory, reasoning and judgment. Scans (computed tomography or CT and magnetic resonance imaging or MRI) and electroencephalograms (EEGs) help to evaluate changes in the brain and clinch the diagnosis.

Dementia can be treated with medications like donepezil, rivastigmine, galantamine hydrobromide and memantine. Specific symptoms and behavioural problems can be treated with sedatives and antidepressants. It is important to take the medicines exactly as prescribed in the correct dosage, which is often individualised. Many people take alternative medications such as vitamin E, omega 3 fatty acids, Coenzyme Q or extracts of ginkgo biloba (a Chinese herb). The dosage schedules are not established. There may be unwanted reactions with the regular medication.

For a long time Indian physicians thought that dementia was a “Western” disease. They felt it did not occur in India as we had longer hours of sunlight exposure. And also because our diet contained turmeric which has the protective anti aging antioxidant curcumin.

Actually earlier, life expectancy in India was only 45 years. This made cases appear few and far between. Now it has increased to 64. Still, only 4.8 per cent of our population is over the age of 65 years. This is in contrast to Western countries where 12 per cent of the population falls in this group.

Today, realisation has dawned that across the globe 0.3-0.4 per cent of the elderly suffers from dementia. We in India are not equipped to deal with it. Caretakers are expensive and family members are left with the difficult responsibility. Geriatrics is an emerging speciality and still not very popular. Old age homes are a recent phenomenon. Insurance is often not available to cover the medical care of the elderly.

Dementia occurs in a genetically predisposed individual living in a conducive environment. Age and genes cannot be changed but blood sugars, lipid levels and hypertension can be controlled. Stimulating the brain by doing puzzles, painting or learning a new skill compensates for some of the changes associated with dementia. The more frequent the activity, the more beneficial the effects. Physical activity such as walking an hour a day also helps delay dementia.

Many young adults do not exercise regularly. Old age seems far away and they feel “this cannot happen to me”. Nothing could be further from the truth.

Source: The Telegraph (Kolkata, India)

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What Really Causes Autism?

California‘s sevenfold increase in autism is most likely due to environmental exposures, according to scientists. A new study advocates a nationwide shift in autism research to focus on environmental factors such as pesticides, viruses and chemicals in household products.

Throughout the U.S., the numbers of autistic children have increased dramatically over the past 15 years. More than 3,000 new cases of autism were reported in California in 2006, compared with 205 in 1990.

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Many medical officials argued that the rise was due to changes in diagnoses or migration patterns rather than a real rise in the disorder. But the new study concludes that those factors cannot explain most of the increase in autism.

Researchers analyzed 17 years of state data that tracks developmental disabilities. Migration to the state had no effect, and changes in how and when doctors diagnose the disorder can explain less than half of the increase.

It is possible that a pregnant woman’s exposure to chemical pollutants, particularly metals and pesticides, could be altering a developing baby’s brain structure, triggering autism. Many parent groups also believe that childhood vaccines could be responsible.
Resources:
Scientific American January 9, 2009
Epidemiology January 2009, Volume 20(1) pp 84-90

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Autism

Prominent characteristics of the syndrome incl...

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Definition:
Autism is a brain development disorder that is characterized by impaired social interaction and communication, and restricted and repetitive behavior, all starting before a child is three years old. This set of signs distinguishes autism from milder autism spectrum disorders (ASD) such as pervasive developmental disorder not otherwise specified (PDD-NOS).

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Autism has a strong genetic basis, although the genetics of autism are complex and it is unclear whether ASD is explained more by multigene interactions or by rare mutations. In rare cases, autism is strongly associated with agents that cause birth defects. Other proposed causes, such as childhood vaccines, are controversial; the vaccine hypotheses lack convincing scientific evidence. Most recent reviews estimate a prevalence of one to two cases per 1,000 people for autism, and about six per 1,000 for ASD, with ASD averaging a 4.3:1 male-to-female ratio. The number of people known to have autism has increased dramatically since the 1980s, at least partly as a result of changes in diagnostic practice; the question of whether actual prevalence has increased is unresolved.

Autism causes children to experience the world differently from the way most other children do. It’s hard for people with autism to talk with other people and express themselves using words. Some people who have autism keep to themselves and many can’t communicate without special help.

They also may react to what’s going on around them in unusual ways. Normal sounds may really bother someone with autism — so much so that the person covers his or her ears. Being touched, even in a gentle way, may feel uncomfortable.

Children with autism often can’t make connections that other kids make easily. For example, when someone smiles, you
know the smiling person is happy or being friendly. But a child with autism may have trouble connecting that smile with the person’s happy feelings.

A child who has autism also has trouble linking words with their meanings. Imagine trying to understand what someone is saying if you didn’t know what their words really meant. It is doubly frustrating then if a child can’t come up with the right words to express his or her own thoughts.

Autism causes children to act in unusual ways. They might flap their hands, say certain words over and over, have temper tantrums, or play only with one particular toy. Most kids with autism don’t like changes in routines. They like to stay on a schedule that is always the same. They also may insist that their toys or other objects be arranged a certain way and get upset if these items are moved or disturbed.

If someone has autism, his or her brain has trouble with an important job: making sense of the world. Every day, your brain interprets the sights, sounds, smells, and other sensations that you experience. If your brain couldn’t help you understand these things, you would have trouble functioning, talking, going to work or school, and doing other everyday things. People can be mildly affected by autism, so that they only have a little trouble in life, or they can be very affected, so that they need a lot of help.

Causes:
It has long been presumed that there is a common cause at the genetic, cognitive, and neural levels for autism’s characteristic triad of symptoms. However, there is increasing suspicion that autism is instead a complex disorder whose core aspects have distinct causes that often co-occur.

Autism has a strong genetic basis, although the genetics of autism are complex and it is unclear whether ASD is explained more by multigene interactions or by rare mutations with major effects. Complexity arises due to interactions among multiple genes, the environment, and epigenetic factors which do not change DNA but are heritable and influence gene expression. Early studies of twins estimated heritability explains more than 90% of the risk of autism, assuming a shared environment and no other genetic or medical syndromes. However, most of the mutations that increase autism risk have not been identified. Typically, autism cannot be traced to a Mendelian (single-gene) mutation or to a single chromosome abnormality like Angelman syndrome or fragile X syndrome, and none of the genetic syndromes associated with ASDs has been shown to selectively cause ASD. Numerous candidate genes have been located, with only small effects attributable to any particular gene. The large number of autistic individuals with unaffected family members may result from copy number variations—spontaneous deletions or duplications in genetic material during meiosis. Hence, a substantial fraction of autism cases may be traceable to genetic causes that are highly heritable but not inherited: that is, the mutation that causes the autism is not present in the parental genome.

Gene replacement studies in mice suggest that autistic symptoms are closely related to later developmental steps that depend on activity in synapses and on activity-dependent changes, and that the symptoms may be reversed or reduced by replacing or modulating gene function after birth. All known teratogens (agents that cause birth defects) related to the risk of autism appear to act during the first eight weeks from conception, and though this does not exclude the possibility that autism can be initiated or affected later, it is strong evidence that autism arises very early in development. Although evidence for other environmental causes is anecdotal and has not been confirmed by reliable studies, extensive searches are underway. Environmental factors that have been claimed to contribute to or exacerbate autism, or may be important in future research, include certain foods, infectious disease, heavy metals, solvents, diesel exhaust, PCBs, phthalates and phenols used in plastic products, pesticides, brominated flame retardants, alcohol, smoking, illicit drugs, vaccines, and prenatal stress. Although parents may first become aware of autistic symptoms in their child around the time of a routine vaccination (and parental concern about vaccines has led to a decreasing uptake of childhood immunizations and an increasing likelihood of measles outbreaks), there is overwhelming scientific evidence showing no causal association between the measles-mumps-rubella vaccine and autism, and no scientific evidence that the vaccine preservative thiomersal helps cause autism.

Despite extensive investigation, how autism occurs is not well understood. Its mechanism can be divided into two areas: the pathophysiology of brain structures and processes associated with autism, and the neuropsychological linkages between brain structures and behaviors. The behaviors appear to have multiple pathophysiologies.

Autism affects about 1 in every 150 people, but no one knows what causes it. Some scientists think that some children might be more likely to get autism because it or similar disorders run in their families. Knowing the exact cause of autism is hard because the human brain is very complicated.

The brain contains over 100 billion nerve cells called neurons. Each neuron may have hundreds or thousands of connections to other nerve cells in the brain and body. The connections (which are made by releasing neurotransmitters) let different neurons in different areas of the brain — areas that help you see, feel, move, remember, and much more — work together.

For some reason, some of the cells and connections in the brain of a child with autism — especially those that affect communication, emotions, and senses — don’t develop properly or get damaged. Scientists are still trying to understand how and why this happens.

Symptoms:
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Core symptoms:
The severity of symptoms varies greatly between individuals, but all people with autism have some core symptoms in the areas of:

Social interactions and relationships. Symptoms may include:
*Significant problems developing nonverbal communication skills, such as eye-to-eye gazing, facial expressions, and body posture.

*Failure to establish friendships with children the same age.

*Lack of interest in sharing enjoyment, interests, or achievements with other people.

*Lack of empathy. People with autism may have difficulty understanding another person’s feelings, such as pain or sorrow.

Verbal and nonverbal communication. Symptoms may include:

*Delay in, or lack of, learning to talk. As many as 40% of people with autism never speak.1

*Problems taking steps to start a conversation. Also, people with autism have difficulties continuing a conversation after it has begun.

*Stereotyped and repetitive use of language. People with autism often repeat over and over a phrase they have heard previously (echolalia).

*Difficulty understanding their listener’s perspective. For example, a person with autism may not understand that someone is using humor. They may interpret the communication word for word and fail to catch the implied meaning.

Limited interests in activities or play. Symptoms may include:
*An unusual focus on pieces. Younger children with autism often focus on parts of toys, such as the wheels on a car, rather than playing with the entire toy.

*Preoccupation with certain topics. For example, older children and adults may be fascinated by video games, trading cards, or license plates.

*A need for sameness and routines. For example, a child with autism may always need to eat bread before salad and insist on driving the same route every day to school.

*Stereotyped behaviors. These may include body rocking and hand flapping.

Symptoms during childhood
Symptoms of autism are usually noticed first by parents and other caregivers sometime during the child’s first 3 years. Although autism is present at birth (congenital), signs of the disorder can be difficult to identify or diagnose during infancy. Parents often become concerned when their toddler does not like to be held; does not seem interested in playing certain games, such as peekaboo; and does not begin to talk. Sometimes, a child will start to talk at the same time as other children the same age, then lose his or her language skills. They also may be confused about their child’s hearing abilities. It often seems that a child with autism does not hear, yet at other times, he or she may appear to hear a distant background noise, such as the whistle of a train.

With early and intensive treatment, most children improve their ability to relate to others, communicate, and help themselves as they grow older. Contrary to popular myths about children with autism, very few are completely socially isolated or “live in a world of their own.”

Symptoms during teen years:
During the teen years, the patterns of behavior often change. Many teens gain skills but still lag behind in their ability to relate to and understand others. Puberty and emerging sexuality may be more difficult for teens who have autism than for others this age. Teens are at an increased risk for developing problems related to depression, anxiety, and epilepsy.

Symptoms in adulthood:
Some adults with autism are able to work and live on their own. The degree to which an adult with autism can lead an independent life is related to intelligence and ability to communicate. At least 33% are able to achieve at least partial independence.2

Some adults with autism need a lot of assistance, especially those with low intelligence who are unable to speak. Part- or full-time supervision can be provided by residential treatment programs. At the other end of the spectrum, adults with high-functioning autism are often successful in their professions and able to live independently, although they typically continue to have some difficulties relating to other people. These individuals usually have average to above-average intelligence.

Other symptoms:
Many people with autism have symptoms similar to attention deficit hyperactivity disorder (ADHD). But these symptoms, especially problems with social relationships, are more severe for people with autism. For more information, see the topic Attention Deficit Hyperactivity Disorder.

About 10% of people with autism have some form of savant skills-special limited gifts such as memorizing lists, calculating calendar dates, drawing, or musical ability.1

Many people with autism have unusual sensory perceptions. For example, they may describe a light touch as painful and deep pressure as providing a calming feeling. Others may not feel pain at all. Some people with autism have strong food likes and dislikes and unusual preoccupations.

Sleep problems occur in about 40% to 70% of people with autism.

Other conditions:
Autism is one of several types of pervasive developmental disorders (PDDs), also called autism spectrum disorders (ASD). It is not unusual for autism to be confused with other PDDs, such as Asperger’s disorder or syndrome, or to have overlapping symptoms. A similar condition is called pervasive developmental disorder-NOS (not otherwise specified). PDD-NOS occurs when children display similar behaviors but do not meet the criteria for autism. It is commonly called just PDD. In addition, other conditions with similar symptoms may also have similarities to or occur with autism.

Diagnosis:
Diagnosis is based on behavior, not cause or mechanism. Autism is defined in the DSM-IV-TR as exhibiting at least six symptoms total, including at least two symptoms of qualitative impairment in social interaction, at least one symptom of qualitative impairment in communication, and at least one symptom of restricted and repetitive behavior. Sample symptoms include lack of social or emotional reciprocity, stereotyped and repetitive use of language or idiosyncratic language, and persistent preoccupation with parts of objects. Onset must be prior to age three years, with delays or abnormal functioning in either social interaction, language as used in social communication, or symbolic or imaginative play. The disturbance must not be better accounted for by Rett syndrome or childhood disintegrative disorder. ICD-10 uses essentially the same definition.

Several diagnostic instruments are available. Two are commonly used in autism research: the Autism Diagnostic Interview-Revised (ADI-R) is a semistructured parent interview, and the Autism Diagnostic Observation Schedule (ADOS) uses observation and interaction with the child. The Childhood Autism Rating Scale (CARS) is used widely in clinical environments to assess severity of autism based on observation of children.

A pediatrician commonly performs a preliminary investigation by taking developmental history and physically examining the child. If warranted, diagnosis and evaluations are conducted with help from ASD specialists, observing and assessing cognitive, communication, family, and other factors using standardized tools, and taking into account any associated medical conditions. A pediatric neuropsychologist is often asked to assess behavior and cognitive skills, both to aid diagnosis and to help recommend educational interventions. A differential diagnosis for ASD at this stage might also consider mental retardation, hearing impairment, and a specific language impairment such as Landau-Kleffner syndrome.

Clinical genetics evaluations are often done once ASD is diagnosed, particularly when other symptoms already suggest a genetic cause. Although genetic technology allows clinical geneticists to link an estimated 40% of cases to genetic causes, consensus guidelines in the U.S. and UK are limited to high-resolution chromosome and fragile X testing. A genotype-first model of diagnosis has been proposed, which would routinely assess the genome’s copy number variations. As new genetic tests are developed several ethical, legal, and social issues will emerge. Commercial availability of tests may precede adequate understanding of how to use test results, given the complexity of autism’s genetics. Metabolic and neuroimaging tests are sometimes helpful, but are not routine.

ASD can sometimes be diagnosed by age 14 months, although diagnosis becomes increasingly stable over the first three years of life: for example, a one-year-old who meets diagnostic criteria for ASD is less likely than a three-year-old to continue to do so a few years later. In the UK the National Autism Plan for Children recommends at most 30 weeks from first concern to completed diagnosis and assessment, though few cases are handled that quickly in practice. A 2006 U.S. study found the average age of first evaluation by a qualified professional was 48 months and of formal ASD diagnosis was 61 months, reflecting an average 13-month delay, all far above recommendations.[102] Although the symptoms of autism and ASD begin early in childhood, they are sometimes missed; adults may seek diagnoses to help them or their friends and family understand themselves, to help their employers make adjustments, or in some locations to claim disability living allowances or other benefits.

Underdiagnosis and overdiagnosis are problems in marginal cases, and much of the recent increase in the number of reported ASD cases is likely due to changes in diagnostic practices. The increasing popularity of drug treatment options and the expansion of benefits has given providers incentives to diagnose ASD, resulting in some overdiagnosis of children with uncertain symptoms. Conversely, the cost of screening and diagnosis and the challenge of obtaining payment can inhibit or delay diagnosis. It is particularly hard to diagnose autism among the visually impaired, partly because some of its diagnostic criteria depend on vision, and partly because autistic symptoms overlap with those of common blindness syndromes.

Treatment:
There is no cure for autism, but doctors, therapists, and special teachers can help people with autism overcome or adjust to many difficulties. The earlier a child starts treatment for autism, the better.

The main goals of treatment are to lessen associated deficits and family distress, and to increase quality of life and functional independence. No single treatment is best and treatment is typically tailored to the child’s needs. Intensive, sustained special education programs and behavior therapy early in life can help children acquire self-care, social, and job skills, and often improve functioning and decrease symptom severity and maladaptive behaviors; claims that intervention by age two to three years is crucial are not substantiated. Available approaches include applied behavior analysis (ABA), developmental models, structured teaching, speech and language therapy, social skills therapy, and occupational therapy.Educational interventions have some effectiveness in children: intensive ABA treatment has demonstrated effectiveness in enhancing global functioning in preschool children and is well-established for improving intellectual performance of young children.[106] Neuropsychological reports are often poorly communicated to educators, resulting in a gap between what a report recommends and what education is provided. The limited research on the effectiveness of adult residential programs shows mixed results.

Many medications are used to treat ASD symptoms that interfere with integrating a child into home or school when behavioral treatment fails. More than half of U.S. children diagnosed with ASD are prescribed psychoactive drugs or anticonvulsants, with the most common drug classes being antidepressants, stimulants, and antipsychotics. Aside from antipsychotics, there is scant reliable research about the effectiveness or safety of drug treatments for adolescents and adults with ASD. A person with ASD may respond atypically to medications, the medications can have adverse effects, and no known medication relieves autism’s core symptoms of social and communication impairments.

Although many alternative therapies and interventions are available, few are supported by scientific studies.Treatment approaches have little empirical support in quality-of-life contexts, and many programs focus on success measures that lack predictive validity and real-world relevance. Scientific evidence appears to matter less to service providers than program marketing, training availability, and parent requests. Though most alternative treatments, such as melatonin, have only mild adverse effects some may place the child at risk. A 2008 study found that compared to their peers, autistic boys have significantly thinner bones if on casein-free diets; in 2005, botched chelation therapy killed a five-year-old child with autism.

Treatment is expensive; indirect costs are more so. A U.S. study estimated an average cost of $3.2 million in 2003 U.S. dollars for someone born in 2000, with about 10% medical care, 30% extra education and other care, and 60% lost economic productivity. Publicly supported programs are often inadequate or inappropriate for a given child, and unreimbursed out-of-pocket medical or therapy expenses are associated with likelihood of family financial problems; one 2008 U.S. study found a 14% average loss of annual income in families of children with ASD, and a related study found that ASD is associated with higher probability that child care problems will greatly affect parental employment. After childhood, key treatment issues include residential care, job training and placement, sexuality, social skills, and estate planning.

Different children need different kinds of help, but learning how to communicate is always an important first step. Spoken language can be hard for kids with autism to learn. Most understand words better by seeing them, so therapists teach them how to communicate by pointing or using pictures or sign language. That makes learning other things easier, and eventually, many children with autism learn to talk fluently.

Therapists also help children learn social skills, such as how to greet people, wait for a turn, and follow directions. Some children need special help with living skills (like brushing teeth or making a bed). Others have trouble sitting still or controlling their tempers and need therapy to help them control their behavior. Some children take medications to help their moods and behaviour, but there’s no medicine for autism.

Students with mild autism sometimes can go to mainstream school. But many children with autism need calmer, more orderly surroundings. They also need teachers trained to understand the problems they have with communicating and learning. They may learn at home or in classes at special or private schools.

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Other conditions
Autism is one of several types of pervasive developmental disorders (PDDs), also called autism spectrum disorders (ASD). It is not unusual for autism to be confused with other PDDs, such as Asperger’s disorder or syndrome, or to have overlapping symptoms. A similar condition is called pervasive developmental disorder-NOS (not otherwise specified). PDD-NOS occurs when children display similar behaviors but do not meet the criteria for autism. It is commonly called just PDD. In addition, other conditions with similar symptoms may also have similarities to or occur with autism.

Prognosis:
There is no known cure. Children recover occasionally, sometimes after intensive treatment and sometimes not; it is not known how often this happens. Most children with autism lack social support, meaningful relationships, future employment opportunities or self-determination. Although core difficulties remain, symptoms often become less severe in later childhood. Few high-quality studies address long-term prognosis. Some adults show modest improvement in communication skills, but a few decline; no study has focused on autism after midlife. Acquiring language before age six, having an IQ above 50, and having a marketable skill all predict better outcomes; independent living is unlikely with severe autism. A 2004 British study of 68 adults who were diagnosed before 1980 as autistic children with IQ above 50 found that 12% achieved a high level of independence as adults, 10% had some friends and were generally in work but required some support, 19% had some independence but were generally living at home and needed considerable support and supervision in daily living, 46% needed specialist residential provision from facilities specializing in ASD with a high level of support and very limited autonomy, and 12% needed high-level hospital care. A 2005 Swedish study of 78 adults that did not exclude low IQ found worse prognosis; for example, only 4% achieved independence. A 2008 Canadian study of 48 young adults diagnosed with ASD as preschoolers found outcomes ranging through poor (46%), fair (32%), good (17%), and very good (4%); 56% of these young adults had been employed at some point during their lives, mostly in volunteer, sheltered or part time work. Changes in diagnostic practice and increased availability of effective early intervention make it unclear whether these findings can be generalized to recently diagnosed children.

Living With Autism:
Some children with mild autism will grow up and be able to live on their own. Those with more serious problems will always need some kind of help. But all children with autism have brighter futures when they have the support and understanding of doctors, teachers, caregivers, parents, brothers, sisters, and friends.

Disclaimer: This information is not meant to be a substitute for professional medical advise or help. It is always best to consult with a Physician about serious health concerns. This information is in no way intended to diagnose or prescribe remedies.This is purely for educational purpose.

 

Resources:
http://www.charliebrewersworld.com/page4.htm
http://en.wikipedia.org/wiki/Autism
http://www.webmd.com/brain/autism/autism-symptoms

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