Tag Archives: Fragile X syndrome

Fragile X Syndrome


Alternative Names: Martin-Bell syndrome; Marker X syndrome

Fragile X syndrome is a genetic condition involving changes in part of the X chromosome. It is the most common form of inherited mental retardation in males and a significant cause of mental retardation in females.

Fragile X is a family of genetic conditions, which can impact individuals and families in various ways. These genetic conditions are related in that they are all caused by gene changes in the same gene, called the FMR1 gene.

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Boys are usually more severely affected as they have only one X chromosome (they carry one X and one Y chromosome). Girls have a second X chromosome, which can to some extent make up for problems with the faulty one and so they may have only mild disabilities. They may also be carriers of the condition – that is, they are not affected themselves but can pass the condition on to their children.

However the genetics of fragile X are actually more complicated as some people only have a small change called a premutation in the FMR1 gene. While they don’t usually have problems from this , it makes the gene unstable and can develop into a full mutation when passed on to the next generation.

Fragile X affects about one in 3,600 men and one in 4,000 to 6,000 women of all races and ethnic groups. It shows an X-linked recessive pattern of inheritance and changes in the gene can become more serious as it’s passed from parent to child (especially when it is passed from a woman who carries it to her child).

Some people with a permutation of FMR1 may have no, or minimal, fragile X symptoms. But those with full mutation, where larger changes in the gene exist, demonstrate more severe signs of the condition.

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Despite being carriers, some men aren’t affected (even though they have no normal copy of their X chromosome). But men who have the full mutation are almost always affected.

In women with the full mutation, a third have a below-normal IQ, a third have a borderline-normal IQ and the remaining third have a normal IQ

Fragile X includes:
fragile X syndrome (FXS), the most common cause of inherited mental impairment. This impairment can range from learning disabilities to more severe cognitive or intellectual disabilities. (Sometimes referred to as mental retardation.) FXS is the most common known cause of autism or “autistic-like” behaviors. Symptoms also can include characteristic physical and behavioral features and delays in speech and language development.

fragile X-associated tremor/ataxia syndrome (FXTAS), a condition which affects balance, tremor and memory in some older male gene carriers.

fragile X-associated primary ovarian insufficiency (FXPOI), a problem with ovarian function which can lead to infertility and early menopause in some female gene carriers.

Some gene carriers do not exhibit any of these features. To learn more about carriers click here.

Fragile X can be passed on in a family by individuals who have no apparent signs of this genetic condition. In some families a number of family members appear to be affected, whereas in other families a newly diagnosed individual may be the first family member to exhibit symptoms.

Since 1984, The National Fragile X Foundation (NFXF) has been helping individuals with Fragile X, their families, and the professionals who work with them. As research into Fragile X continues, our understanding of who it affects and how it affects them will grow. The NFXF is committed to: 1) supporting and funding all efforts that will increase awareness, 2) improving education, 3) advancing research toward improved treatments and an ultimate cure, and 4) keeping the Fragile X community always well-informed about the progress of these efforts.

Understanding Fragile X: A short, independent film produced by Image Union at station wttw11 in Chicago. (26 min.)

The main problem in fragile X is intellectual impairment. This can range from very minor, so that the person has a normal IQ and shows no sign of fragile X, to severe learning difficulties. How badly someone is affected depends on the degree of change in the gene.
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*Hyperactive behavior
*Large body size
*Large forehead or ears with a prominent jaw
*Large testicles (macro-orchidism) after the beginning of puberty
*Mental retardation
*Tendency to avoid eye contact

Family members who have fewer repeats in the FMR1 gene may not have mental retardation, but may have other problems. Women with less severe changes may have premature menopause or difficulty becoming pregnant. Both men and women may have problems with tremors and poor coordination.

Fragile X syndrome is a genetic disorder caused by mutation of the FMR1 gene on the X-chromosome. Mutation at that site is found in 1 out of about every 2000 males and 1 out of about every 259 females. (Incidence of the disorder itself is about 1 in every 3600 males and 1 in 4000–6000 females.)

Prominent characteristics of the syndrome incl...

Prominent characteristics of the syndrome include an elongated face, large or protruding ears, and low muscle tone. (Photo credit: Wikipedia)

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Normally, the FMR1 gene contains between 6–55 (29 in Robbins–Kumar pathology textbooks) repeats of the CGG codon (trinucleotide repeats). In people with the fragile X syndrome, the FMR1 allele has over 230–4000 repeats of this codon.

Expansion of the CGG repeating codon to such a degree results in a methylation of that portion of the DNA, effectively silencing the expression of the FMR1 protein.

This methylation of the FMR1 locus in chromosome band Xq27.3 is believed to result in constriction of the X chromosome which appears ‘fragile’ under the microscope at that point, a phenomenon that gave the syndrome its name.

Mutation of the FMR1 gene leads to the transcriptional silencing of the fragile X-mental retardation protein, FMRP. In normal individuals, FMRP is believed to regulate a substantial population of mRNA: FMRP plays important roles in learning and memory, and also appears to be involved in development of axons, formation of synapses, and the wiring and development of neural circuits

Possible Complications:-
Complications vary depending on the type and severity of symptoms.

*Recurrent infections in children
*Seizure disorder

Fragile X syndrome is an X-linked dominant condition with variable expressivity and possibly reduced penetrance.

Because males normally have only one copy of the X-chromosome, those males with significant trinucleotide expansion at the FMR1 locus are symptomatic. They are intellectually disabled and may show various physical features of the fragile X syndrome.

Females have two X-chromosomes and thus have an increased probability of having a working FMR1 allele. Females carrying one X-chromosome with an expanded FMR1 gene can have some signs and symptoms of the disorder or be normal. Although the extra X-chromosome can serve as a backup, only one X-chromosome is active in each cell due to X-inactivation.

Males with the fragile X cannot transmit it to any of their sons (since males contribute a Y-chromosome, not an X, to their male offspring), but will transmit the premutation to all of their daughters, as males contribute their X to all of their daughters. Males never transmit their full mutation (males with full mutations in their blood have premutations in their sperm), and expansion to full mutations never occurs through paternal transmission.

Females carrying one copy of the fragile X can transmit it to their sons or daughters; in this case each child has a 50% chance of inheriting the fragile X. Sons who receive the fragile X are at high risk of intellectual disability. Daughters who receive the fragile X may appear normal or they may be intellectually disabled, usually to a lesser degree than boys with the syndrome. The transmission of fragile X often increases with each passing generation. This seemingly anomalous pattern of inheritance is referred to as the Sherman paradox.

Fragile X syndrome was originally diagnosed by culturing cells in a folate deficient medium and then assessing the cultures for X-chromosome breakage by cytogenetic analysis of the long arm of the X-chromosome. This technique proved unreliable for both diagnosis and carrier testing.

The fragile X abnormality is now directly determined by analysis of the number of CGG repeats and their methylation status using restriction endonuclease digestion and Southern blot analysis.

Not everyone with fragile X syndrome has the same signs and symptoms. Even affected people in the same family don’t show the same symptoms. The signs and symptoms fall into six categories:

*Intelligence and learning
*Social and emotional
*Speech and language
*Disorders commonly associated or sharing features with Fragile X

Autism and Fragile X syndrome:
Fragile X syndrome can cause a child to have autism or an Autism Spectrum Disorder (ASD) though not all children with fragile X syndrome have autism or an ASD.

For 2% to 6% of all children diagnosed with autism, the cause is the Fragile X gene mutation. Approximately one-third of all children diagnosed with fragile X syndrome also have some degree of autism. Fragile X syndrome is the most common known single gene cause of autism.

From Dr. Randi Hagerman’s statement to the United States House of Representatives Subcommittee on Health and Environment: “…Fragile X represents a portal through which we hope to view and treat a wide variety of other disorders of brain development and function. All children with autism…should be tested for Fragile X.”

Genetic mouse models of Fragile X syndrome have also been shown to have autistic-like behaviors

As yet there are no specific treatments or a cure for fragile X, but emotional and educational support for children and their families are vital to help them reach their best potential.

Most affected children have delayed speech and language development and specialised help from a speech and language therapist is vital. Behavioural therapy may help children and their families to cope with problems such as hyperactivity and impulsivity, and sometimes medication is tried. Behavioural therapy may also help those children who have problems developing relationships to develop social skills and to cope with stressful situations.

Some children cope in mainstream schools, sometimes with some extra help, while others need to go to a school which can provide for their special educational needs.

The outcome depends on the extent of intellectual impairment that is present as well as emotional and social skills.

Genetic counseling may help both existing and prospective parents with a family history of Fragile X syndrome, or a family history of other symptoms such as tremor. Genetic testing can help determine the level of risk in these families.

Recent studies have focused on a number of critical areas. The role of FMRP’s RNA partners, many of which have now been validated through in vitro assays, is of primary importance. Also being examined is the function the various domains of FMRP, an RNA-binding protein, which is still relatively unknown. One hypothesis is that many symptoms are caused by unchecked activation of mGluR5, a metabotropic glutamate receptor, which was found in a 2007 study to contribute significantly to the pathogenesis of the disease;  this suggests that mGluR5 blockers could be used to treat fragile X syndrome

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.




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Prominent characteristics of the syndrome incl...

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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).


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.

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.

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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 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.

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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Natural Therapy of 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.

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.



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Grandma’s Remedy for Cancer

Indian scientists have found the exact mechanism by which curcumin, the active ingredient of turmeric, helps prevent cancer.


From a swollen thumb to a bruise to food poisoning, good old grandma has often had a single remedy: a dash of turmeric. Indian researchers have now found that this dietary supplement plays a positive role in taming cancers too.

The ubiquitous spice of the typical Indian kitchen has of late been a subject of much curiosity among medical researchers because of its well-known wound healing and anti-inflammatory properties.

Researchers stumbled upon the anti-cancer potential of curcumin, the active ingredient of turmeric, recently. Since then, a number of research groups all over the world have been engaged in animal studies to prove curcumin’s efficacy.

Reported in the latest issue of Carcinogenesis, the work by a team of Indian medical scientists led by Girish Maru of the Advanced Centre for Treatment, Research and Education in Cancer (ACTREC), Mumbai, is one of first studies on the subject.

More importantly, the Mumbai scientists were able to unravel the exact mechanism behind curcumin’s action. They found that curcumin not only inhibits the enzymes that directly help a cancer-causing agent to damage the DNA but also increases the availability of yet another set of enzymes that helps the body fight the carcinogenic compound.

For their studies the ACTREC researchers used the carcinogen benzo[a]pyrene (B[a]P), a compound commonly found in cigarette smoke and wood smoke and that is implicated in lung cancer. They fed mice with curcumin for 16 days. Then the animals were given a relatively high quantity of B[a]P enough to induce DNA damage that can lead to tumour growth.

Subsequent studies on how the carcinogen interacted with various sets of enzymes inside the animals gave interesting results. The mice fed with curcumin had much depleted levels of cancer-promoting enzymes compared with the control group. Also, they showed higher levels of friendly enzymes such as glutathione S-transferase, indicating increased detoxification of B[a]P.

But is the quantity of turmeric, which one consumes through food, enough to have a protective effect against cancers? Scientists do not think so.

Though very potent, the levels of curcumin in turmeric are as low as 0.01 per cent. Moreover, curcumin uptake by the human body is relatively low. However, scientists are trying to increase curcumin uptake by the human body. For instance, they have already found that adding one part of piperine, the compound responsible for black pepper’s pungency, to 20 parts of curcumin can increase the uptake by several hundred-fold.

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Sources: The Telegraph (Kolkata, India)