Causes

Autism is complex, and no one single cause has been identified.  Genetics may play a role, and siblings of autistic children are at a higher risk for developing autism than those with no family history.  Research indicates that some variations in gene development may play a role in the development of autism, as may environmental exposure to certain chemicals and toxins.  Routine vaccinations have been ruled out as a cause for autism. Even  researchers who study autism exclusively can not, as of  yet, point to a specific cause of this disorder.

Symptoms

Because children with autism can be very withdrawn and non-communicative, autism can be bewildering for parents and families of those affected. Children affected by autism share many similar symptoms, such as problems with communication, social interaction, and language use. However, since the range of symptoms is great, one child with autism may function in a way that is more “normal” than another with the same diagnosis.

Diagnosis

Parents are often the first to recognize that something is not right with the development of a child who is ultimately diagnosed with autism.  Diagnosis of autism is based on observation, followed by screening and evaluation. Parents may be relieved to receive a diagnosis since that can then lead to treatment and intervention.  Unlike other disorders or diseases, no one medical test can effectively diagnose or rule out autism.  The process of diagnosis can be a difficult time for parents who are anxious for answers.

Treatment

Autism, based on what is known today, cannot be cured, but treatments and interventions – particularly when they are early and intense – can significantly affect the development of a child with autism. With no “one size fits most” treatment proven effective, parents must remain keenly aware of the symptoms their child exhibits in order to determine what may be effective in their child’s specific case.  Behavioral and speech therapies are being studied and found to be effective at lessening autism symptoms.  Medications and diet are also being studied as potential ways to decrease symptoms, but all of these interventions depend on the child affected, adding to the mysterious nature of autism and its treatment.

Autism is complex, but research has made great strides in determining causes and treatments.  The disorder remains vexing, but continuing research will eventually lead to an increased knowledge of causes and prevention, treatments and interventions.

The technology measures eye direction while 9 to 12 month old babies look at eyes, faces, and bouncing balls on a computer screen. This new technology allows researchers to “distinguish between a group of siblings with autism from a group with no autism — at nine months and 12 months,” says Rutherford, and the study can be completed in 10 minutes without being influenced by intuition or a clinician’s report.

Because the earlier one is diagnosed with autism, the better the prognosis, Rutherford states that, “There is an urgent need for a quick, reliable and objective screening tool to aid in diagnosing autism much earlier than is presently possible.” Current diagnostic tests are reliable at around age 2.

Early detection of autism can have a profound effect on the treatment and interventions autistic children receive, so this tool is an invaluable resource for early diagnosis.

Reference: Science Daily

Parents should keep in mind that development happens on a continuum, and a possible delay in one area of development does not necessarily make for a developmental delay.  However, delays in some developmental areas can be indicative of Autism Spectrum Disorder (ASD), so knowing what the warning signs are can help parents to secure early screening, diagnosis, and treatment if warranted.

According to the US Centers for Disease Control and Prevention, there are warning signs of developmental delay, broken down into 3-month, 7-month, and 1-year of age categories.

At 7 months, some warning signs of a developmental delay include a baby who seems to have tight muscles or who is stiff, or one who seems floppy (his or her head may flop back when you pull baby to a sitting position).  A baby who reaches with just one hand, refuses to cuddle, or shows no affection for his or her caregiver may have a delay.  Lack of response to sounds or a lack of enjoyment for being around people may be indicative of a delay, as may be sensitivity to light or eye drainage or tearing that is persistent.

Babies who do not bear weight on their legs by 7 months may also have a delay.  No interest in “peek-a-boo” games or failure to babble by 8 months may also be signs of developmental delays.  At this, or any age, a dramatic loss of skills once had may be a warning sign of a delay or disorder.

At one year, normally developing babies should crawl and stand when supported.  They should also search for objects that you hide while they are watching, and use gestures such as waving.  Babies at this age who are developing normally should also be able to use single words like “dada” or “mama” and point to pictures or objects.

Between 7 months and 1 year, babies are developing an interest in social play and using their voices to express displeasure and joy.  Babies can tell emotion from the speaker’s tone of voice and are beginning to understand the word “no.”

Although not all delays are indicative of a developmental delay, if your child exhibits any of the following “red flags” for developmental delay around age 6 months, consult your pediatrician right away:

Baby does not try to attract attention through actions by 7 months

Baby does not babble by 8 months

Baby does not learn to use gestures, such as waving or shaking head

Baby does not point to objects or pictures

Baby cannot stand when supported.

The Autism Society reports that “it is generally accepted that [autism] is caused by abnormalities in brain structure or function.”  Brain scans of children with autism show differences in the shape and structure of the brain as compared to normally developing children.  So is there a genetic component to these differences in brain shape and structure?

Some families have a pattern of autism, and some children, it appears, are born with susceptibility toward the disorder.  Research is being conducted on whether some genes may interfere with brain development that results in autism.

In 2007, Autism Speaks published preliminary results from the largest-ever genome scan that indicated that there may be a link between genetics and autism.  The study focused on a specific group of neurons called glutamate neurons and the genes that affect their development and function.  The findings suggested that these neurons have a crucial role in ASDs.

Autism Speaks chief scientist Andy Shih stated that “By combining cutting edge CNV analysis with the more traditional linkage and association [analyses], the scientists now have a promising new experimental framework to look for autism susceptibility genes.”  Shih went on to state that the “findings from the AGP linkage scan confirm the value and contribution of multidisciplinary collaboration to advancing autism research.”
The identification, then, of these genes may provide insight into the causes of autism, in turn providing new ways of diagnosis and treatment for those affected by it.

While pin-pointing a specific gene that causes autism may be a long way off – if it is ever located – any ongoing research that will help identify autism’s underlying causes will ultimately result in more effective treatments and interventions.

A medical test for autism still does not exist, and diagnosis is made based on observation of symptoms.  While research on a genetic link to autism is promising in terms of diagnosis and treatment, the ability to determine a genetic link to autism in utero brings with it its own set of moral and ethical debates.

To read more about the autism genome project click here.

Researchers have identified factors surrounding birth that are associated with an increased risk of autism, such as breech presentation at birth, low Apgar scores (Apgar scores evaluate a baby’s well-being at 5 minutes after birth), and birth before 35 weeks of gestation. Studies conducted by the Centers for Disease Control and Prevention have indicated that children who are born early or underweight have a risk of developing autism that is nearly double the rate of those born full-term at a healthy weight.

While breech presentation, delivery before 35 weeks, and certain factors associated with a low Apgar score are likely not preventable, sound prenatal care may prevent low birth weight and, in some cases, early delivery. Any steps taken to prevent these events, such as early and thorough prenatal medical care and healthy weight gain by the mother, will ensure a healthier baby in general. While these may or may not prevent autism, reducing any risks to the fetus and baby can only benefit him or her.

Researchers have also found a link between a parental history of schizophrenia-like psychosis, and a parental history of affective disorders including depression and bipolar disorder, and a child’s risk for autism. Again, these factors are not preventable.

Research has also indicated that some genes may be responsible for autism. Although no single gene has been identified as a cause of autism, some families have a pattern of autism. It appears that some children are born susceptible to autism, and research is being conducted on whether the development of some genes interferes with brain development that results in autism. Among identical twins, research has discovered, if one twin has autism, then the other is affected about 75% of the time. The figure for non-identical twins is about 3%. In families with one child who an ASD, then there is a 2 to 8 % chance of a second child also having an ASD. This information may be useful in preventing autism, but it carries with it its own set of moral and ethical issues for parents who must make their own decisions regarding family planning.

Other factors in the development of autism include the mother’s health. Recent studies by researchers at John Hopkins University link autism with a mother’s autoimmune disorders such as celiac disease and rheumatoid arthritis. The Johns Hopkins study concluded that, if one of these disorders is present in the mother, the risk of autism in her child is increased threefold.

Certain medical conditions such as tuberous sclerosis, congenital rubella syndrome, Fragile X syndrome, and untreated phenylketonuria are associated with an increased risk for autism. While the development of certain congenital and genetic factors may not be preventable, treatment of phenylketonuria may help to prevent the risk of developing autism.

Exposure to some harmful drugs during pregnancy, such as thalidomide, is also associated with an increased risk of developing an ASD; exposure to these drugs is a risk factor that is preventable.

No scientific evidence exists to link routine childhood vaccinations with an increased risk of developing and ASD, so not immunizing a child not only does not help prevent ASD, but also puts him or her at risk for developing other serious medical issues.

Certain risk factors for autism are not preventable. However, getting thorough prenatal care and genetic testing as appropriate can only benefit children in general, if not also helping to minimize risk factors for autism.

Resources & References:

Read the US Centers for Disease Control and Prevention’s ASD information here.

Read the Autism Society of America’s “What Causes Autism” page here.