Is Autism Over-diagnosed?

By: Erin Thomas

The current incidence of autism in the U.S. is 1 in 50 children. While this alarming rate is prompting research into causes and treatments of autism, it has also caused many to raise eyebrows and propose a different idea…Is autism simply being over-diagnosed today? The answer is not so clear.

One study showed that incidence rates for autism in the U.K. increased fivefold in the 1990s, but incidence in 8 year olds reached a plateau in the early 2000s. The rate then stayed stable through 2010. It has not been determined whether this same trend applies for the U.S.

ASDs are often first detected around 18 months and even earlier in some cases. But the truth also remains that some diagnosed cases of autism are considered to be “outgrown” at later ages. This may be because ASDs share some neurodevelopmental symptoms with other conditions, leading to mistakes in diagnosis at a young age.

One study compared three cohorts of people diagnosed with ASDs: young children (3-5 years), children (6-11 years), and adolescents (12-17 years). Data was collected to identify conditions that distinguished individuals who had a current diagnosis of an ASD from those who had a past but not current diagnosis of an ASD. The symptoms in the young children 3-5 years old who currently had an ASD diagnosis were moderate/severe learning disability and moderate/severe developmental delay. In children 6-11 years old the distinguishing symptoms were past speech problem, past hearing difficulties, and current moderate/severe anxiety. In adolescents, the distinguishing symptoms were past hearing difficulties, current moderate/severe speech problems, and current mild seizures or epilepsy. Overall, the study suggested that co-occurring neurodevelopmental and psychiatric syndromes could be associated with a change in ASD diagnosis.

Another claim regarding the over-diagnosis of ASDs is that the spectrum has become too wide and inclusive, making it difficult to distinguish Asperger’s and high functioning parts of the spectrum from pure social disabilities. Some physicians argue that a few socially odd tendencies or repetitive behaviors may be enough to label a child as autistic today, whereas just a few decades ago these children would not have been included on the spectrum. Physicians such as Paul Steinberg argue that more biological markers are necessary to separate ASDs from social disabilities. He warns that because Asperger’s syndrome is so loosely defined today, we put children who are introverted, quirky, or challenged when it comes to relating with their peers in danger of being wrongly diagnosed as having Asperger’s. Steinberg says that with the erroneous diagnosis comes lower self-esteem and poorer social development when they are placed in classrooms with children who actually have an Autism Spectrum Disorder. For an adult with a social disability, a misdiagnosis of Asperger’s on his or her permanent medical record can be a hurdle when searching for employment. Ultimately, there is a concern that as a society we are pathologizing quirks while undermining the severity of classic autism symptoms, such as difficulties in language acquisition and development.

Nordqvist, C. (2012, January 23). "Autism Overdiagnosed? Possibly, Because Many

Children Seem To "Outgrow" It."Medical News Today. Retrieved from

http://www.medicalnewstoday.com/articles/240649.

Steinberg, P. (2012). Asperger’s history of over-diagnosis. Retrieved from

http://www.nytimes.com/2012/02/01/opinion/aspergers-history-of-over-diagnosis.html?_r=0.

Taylor B, Jick H, MacLaughlin D. Prevalence and incidence rates of autism in the UK: time

trend from 2004–2010 in children aged 8 years. BMJ Open 2013;3:e003219. doi:10.1136/bmjopen-2013- 003219. 

Doctors Skype Too

By: Meghana Reddy

Videochatting, usually, is best known as a social application that connect family members, friends, and significant others when long distances may keep them apart.

But this sort of virtual communication does not just have to be used for social communication — it can also be used for communication between medical specialists, and this can change the way we examine and treat autism and other spectrum disorders.

Videoconferencing facilitates communication between multiple medical specialists from different locations across the country, or even the world, because access may be difficult to obtain otherwise. The specialists, though geographically separated, can come together at one time, in one place, and speak to each other and the patient’s family in one session.

The specialists can all give their input on the individual patient’s case. One major advantage of videoconferencing is that one specialist can consult with the other doctors, to see if the prescription they are suggesting would benefit the child – or determine if might actually create other issues in other body systems or development, and shouldn’t be given to the patient. With this back-and-forth dynamic, specialists can cross-check their opinions with other specialists who also understand the patient’s case. They are able to make sure their opinions don’t conflict with each other, and that they create the most benefit for the patient.

Videoconferencing is the solution that makes this sort of group effort possible. As a result, specialists are able to work together to come up with a simple solution and clear treatment plan, which will put the patient on the best path to recovery.

Videoconferencing is already widely implemented in therapeutic autism centers across the country. The sessions are incredibly efficient, because they save the time, money, and conflict of opinions in the process. At the end of a videoconferencing session, medical specialists will have finalized a treatment plan that works towards the benefit of the child, without costing the parents the effort and stress of traveling and taking care of their kids. It also works for the benefit of the doctors, not having to spend as much time consulting with and analyzing a large number of patients.

With one treatment plan for each individual case, hashed out in one go with all of the necessary specialists, videoconferencing is an extremely effective tool used for autism and spectrum disorders in modern medicine. Videoconferencing sessions can be most beneficial to the patient, and they ease the amount of pressure each person involved in the treatment and care process. Specialists and families work together, to create a streamlined, agreeable, team approach – something that is especially needed in the complex treatment that autism requires.

Putting Down the Prescription Pad

By: Sabiha Toni  

We’ve all heard that parenthood is a stressful and taxing phase of life, a struggle for an iota of leisure between midnight diaper changes, airplane impressions, and scrubbing a child’s crayon art—with its distinct postmodern influence—off of recently painted walls. Parenthood is an investment of mental and physical efforts, and it is understandable why many parents feel overwhelmed. In addition to all these foundational duties, parents of a child on the spectrum may feel that they are even more burdened by responsibilities of raising a child and also quelling a disorder on the side.

Most families use a combination of treatments to help manage their children’s ASD, including behavioral therapies. It is often tempting to associate medication with any type of illness or disorder, whether physical or mental. It is even more of a lure that medication is often connected to a quick-fix or a cure. A recent study shows that more than half of autistic children from ages 6-17 have turned to pharmacological assistance for their ASDs (Pringle, Colpe, Blumberg, Avila, Kogan, 2012). In the case of Autism Spectrum Disorders, however, there is no medicinal miracle. So why are so many parents turning to pharmacology as a treatment?

Medication is not prescribed as a primary means of treatment. When additional support is needed for severe symptoms or when behavioral therapies fail, certain medications can help integrate a child into home or school settings (Rapin, Tuchman, 2008). Some types of medications include:

• Antipsychotic drugs: are generally used to treat psychosis in schizophrenic or bipolar patients. It can also be prescribed to manage certain unwanted behaviors in autistic individuals. Recently, risperidone has been approved by the FDA as a prescription antipsychotic that helps manage behaviors such as irritability, hyperactivity, aggression and self-injury (Pesaturo, 2009).
• Psychostimulants: enhance alertness and are sometimes used to treat inattentiveness, impulsiveness and hyperactivity in ASD patients (Nickels, Katusic, Colligan, Weaver, Voigt, Barberesi, 2008).
• Antidepressants: block certain chemicals in the brain from being reabsorbed and broken down, such as norepinephrine and serotonin, so that their effects last longer. These can be prescribed for autistic patients who show signs of depression or anxiety (Hurwitz, Blackmore, Hazell, Williams, Woolfenden, 2012).

Resorting to pharmacological treatments can seem like an appealing method of dealing with ASDs, especially to overwhelmed parents and family members. However, medication does not resolve the core complications of ASDs, which include difficulties in social and communicative aspects. There are a variety of symptoms associated with different disorders within the spectrum, so there is no single medication that alleviates the signs of all autistic disorders. Since many of those taking prescription drugs for autism are children, it is also important to consider the side effects of these medications. Not all children respond in the same way to psychoactive drugs, and medications may hinder long-term development in autistic children (Rapin, Tuchman 2008). It is essential to consult a doctor about the pros and cons of medical treatment, and to continue behavioral therapies alongside pharmacological ones, so that an optimal treatment plan can be designed for each person.

References:

Hurwitz, R., Blackmore, R., Hazell, P., Williams, K., Woolfenden, S. Tricyclic antidepressents for autism spectrum disorders (ASD) in children and adolescents. Cochrane Database Syst Rev. 2012; 3.

Nickels, K.C., Katusic, S.K., Colligan, R.C., Weaver, A.L., Voigt, R.G., Barbaresi, W.J. Stimulant medication treatment of target behaviors in children with autism: a population based study. J Dev Behav Pediatr. 2008; 29(2): 75-81.

Pesaturo, K.A. Risperidone (Risperdal) for management of autistic disorder. Am Fam Physician. 2009; 79(12): 1104–1107.

Pringle, B.A., Colpe, L.J., Blumberg, S.J., Avila, R.M., Kogan, M.D. Diagnostic History and Treatment of School-aged Children with Autism Spectrum Disorder and Special Health Care Needs. NCHS Data Brief, Center for Disease Control. 2012; 97.

Rapin, I., Tuchman, RF. Autism: definition, neurobiology, screening, diagnosis. Pediatr Clin N Am. 2008; 55: 1129-1146.

Image: http://misc.likes.com/the-most-dangerous-prescription-drugs

Road Trip 2: New Beginnings?

By: Meghana Reddy

Because the healthcare that may be necessary for autistic patients isn’t always accessible, families have to travel around the country in order to find the doctor their child needs, and get a consultation with them.

But what if you need more than one doctor? What if the child has not only digestive bleeding, but allergies that also need to be treated? If you want to fully get rid of these co-morbidities (diseases or symptoms that occur at the same time as the primary disorder, autism), you would need to consult at least two specialists.

Say the family talks to the digestive specialist first. The digestive specialist assesses the problem, and prescribes a medication specifically to stop gastro-intestinal bleeding. After this, the family travels to the allergy specialist for consultation. They are told that the digestive medication has an ingredient that the child is allergic to; if the child took the medication, her allergies would get even worse.

Now what’s the family supposed to do?! One of the medications that supposed to improve their child’s health in one aspect will make it worse in another. The family is back to square one, unable to use the advice the doctors gave them – and they don’t have any other alternatives.

Because there’s no guarantee that specialists’ opinions will complement each other, the process keeps going on and on and on; the parents are exhaustively trying to find the right resources for their child. Not only is rarity of the right doctors for certain conditions and issues, but differing opinions between professionals can add to the mix as well. Different sources may give them different information that may not reconcile.

So… what are the parents supposed to do now? Most keep trying to consult different doctors to figure out the best option.

But because of the current level and nature of care, there’s no set plan, no way of establishing a priority list for effectively addressing autism’s effects on an individual. The parents are left confused, desperate, and trying their best – but the child remains without adequate care.

But with a multidisciplinary team approach to the identification and treatment of the complicated medical co-morbidities of autism, this can all change. With a multidisciplinary approach, medical experts can gather via videoconference and create the best treatment plan for each individual child, right then and there. This approach is becoming more widely used across the country as an easy, quick, and thorough way of giving a child the care they deserve, and giving the parents a straightforward treatment plan to follow.

Because even if we don’t yet have a cure for autism, we can still improve on our current system of treatment. This is just the beginning.

Road trip... ?

By: Meghana Reddy

A road trip can be a fun experience: visiting new places, seeing new things, being in a different environment away from home.

But road trips aren’t always for vacationing. Sometimes, one has to travel in search of something they just don’t have access to where they live. They travel out of necessity.

Let’s say, for example, a family from Vermont has an autistic child. The child might not express any discomfort they may be feeling, if at all. Parents may become concerned that there are other internal issues with body systems that aren’t apparent at first glance.

So, the parents, not knowing what specific problems their child is having, may decide to visit their doctor. After examination and scans, they find out that the child has an issue in their GI (gastrointestinal) tract, and has allergies. Then, the doctor refers to specialists, who have experience in dealing with autistic patients with those particular problems.

It sounds like a methodical way of addressing the effects of any disorder … but there’s a catch. The nearest specialists who have the necessary experience with autism are states away, the GI specialist in New York and the allergy specialist in Ohio. The family now has to travel to one specialist that’s far away, spend money, time and effort. And THEN, they still have visit the other doctor. It's a long, tiresome journey.

As difficult as it may be, we have to find a way to address the lack of specialists across the country, and bridge the gap between the patients and their doctors in an effective way.

But it will take years before we get the number of specialists that are required around the country to address autism-specific treatments. The time and the effort that is required to physically visit a specialist is not always possible for many families of autistic children, if parents are at home full-time taking care of their children, or working to support them.

As difficult as the situation is now, there still may be hope for a solution. This issue I will be discussing in my next post, a way to link healthcare providers with those in need of their input.

New Study: Increased Immune Activation During Pregnancy May Lead To Higher Risk of Autism and Schizophrenia

By: Erin Thomas

A new study by researchers at the UC Davis Center for Neuroscience and Department of Neurology found that viral infection during pregnancy may cause a higher chance of autism onset as well as schizophrenia. This is the first evidence that levels of major histocompatibility complex class I molecules (MHC1), cells involved in regulating immunity, are altered on the surface of neurons in an offspring’s brain if the mother’s immune system is activated. The study showed that MHC1 levels are doubled on the surface of neurons in the newborn offspring of mothers whose immune systems are activated. This suggests that MHC1 levels are very responsive to a peripheral immune response in the mother (Elmer, 2013). This is significant because maternal immune activation is a risk factor for Autism Spectrum Disorders and schizophrenia in humans. Mouse models have shown that offspring of mothers with immune activation show symptoms of both ASD and schizophrenia. This study demonstrated that maternal immune activation causes MHC1 signaling to limit the capability of neurons to form synapses, which are connections between neurons. When MHC1 levels in the newborns were made to return to normal, synaptic densities also returned to normal levels. Future experiments will seek to determine how the MHC1 signaling pathway is specifically affected by maternal immune activation.

B. M. Elmer, M. L. Estes, S. L. Barrow, A. K. McAllister. MHCI Requires MEF2 Transcription Factors to Negatively Regulate Synapse Density during Development and in Disease. Journal of Neuroscience, 2013; 33 (34): 13791 DOI:10.1523/%u200BJNEUROSCI.2366-13.2013

Image: http://www.natcom.org/uploadedImages/CommunicationCurrents_Articles/Volume_2/neuron.jpg

Something in the Air?

By: Erin Thomas

While it is suspected that autism has a genetic component, recent research has been minimizing the role of genetics in the onset of autism and maximizing the role of environmental factors. Until now, twin studies have lead us to believe genes are involved in causing autism. One study reported that when one sibling has an ASD, the other sibling also has an ASD twice as often in identical twins than in non-twin siblings (Bohm, 2013).  Another study in Denmark using data from 1980 to 2004 reported that the concordance risk of ASDs was 6.9 in siblings, 2.4 in maternal half siblings, and 1.5 in paternal half siblings (Gronborg, 2013). This shows that the risk is higher in full siblings than half siblings, further intimating the genetic component of autism.  The risk is also higher in maternal half siblings than paternal half siblings, suggesting that issues during pregnancy may have an effect.

Because these concordance rates in twins and siblings are smaller than previously thought, there has been increasing research into environmental-gene interactions and exposure to harmful chemicals during the first trimester of pregnancy.

Epidemiological studies have pointed to thalidomide and valproic acid as possible teratogens, agents that cause malformation of the embryo (Matsuzaki, 2012). In the 1960s, children of women who used thalidomide during pregnancy were born with developmental disabilities, most notably shortness of the limbs. 5% of these children also had autism. However, autistic children usually only have malformed ears, not shortness of the limbs. This led to the assumption that the developmental issues associated with autism occurred in the first trimester, when the brainstem is formed. In addition, children born to women who took valproic acid (VPA) during pregnancy developed a condition known as fetal VPA syndrome. Children with this syndrome also had a high probability of having autism. A study of the postmortem brain of an autistic patient revealed a decrease in nerve cells in certain areas that led researchers to believe that the onset of autism occurred immediately after the neural tube of the fetus was closed in the first trimester of pregnancy. Valproic acid-exposed animal (rat) models have also been shown to present the symptoms of autism, and they have been used frequently as autistic models of environmental factors (Matsuzaki, 2012).

There is also ongoing research into the effects of pollution on autism onset. One study conducted in Los Angeles, California from 1998 to 2009 revealed that there was a 12-15% increase in odds of being diagnosed with autism after increasing exposure to ozone and particulate matter, and a 3-9% odds increase with increasing exposure to nitric oxide and nitrogen dioxide (Becerra, 2013). The data suggested that there may be an association between autism and exposure to air pollutants during pregnancy, primarily in relation to traffic sources. Most recently, a study into the effects of air pollution was conducted on a national scale. The study looked for correlations between the level of air pollutants at the time and place a woman was pregnant and the presence of an ASD in her child. The results showed that women living in areas that were most polluted, areas with the highest levels of diesel particulates or mercury, were twice as likely to have a child with autism (Roberts, 2013). Women exposed to other pollution, such as lead, manganese, and hard metals also had a higher risk of having a child with autism. However, the researchers of this study warn that it is not conclusive as to what causes the autism. Previous studies have shown that there is no relationship between mercury in vaccines and autism onset. The next step would be to study the blood samples of mothers and children with autism to see which toxin specifically is being transmitted (Roberts, 2013).

So is there something in the air causing autism rates to soar? Not necessarily. As you can see, the research is far from conclusive. However, scientists do have strong reason to believe that environmental factors play a larger role than previously thought, and this knowledge is crucial for finding effective treatments.

Becerra, T et. al. (2013). Ambient air pollution and autism in Los Angeles County, California. Environ Health Perspect. 121(3): 380–386

Bohm, H.V. et. al. (2013). On the autism spectrum disorder concordance rates of twins and non-twin siblings. Med Hypotheses. pii: S0306-9877(13)00408-8. 

Gronborg, TK et. al. (2013). Recurrence of Autism Spectrum Disorders in full- and half- siblings and trends over time: A population-based cohort study. JAMA Pediatr. 167(10):947-953.

Roberts, A et al. (2013). Perinatal air pollutant exposures and Autism Spectrum Disorder in the children of Nurses’ Health Study II participants. Environ Health Perspect 121:978–984. http://dx.doi.org/10.1289/ehp.1206187 [Online 18 June 2013]

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Roads Less Taken

By: Sabiha Toni 

Alternative medicine and therapy has always been a controversial field in science, often because there is no conclusive evidence supporting many of the options offered. The legitimacy of alternative treatments are still argued by scientists and doctors—while some are in support of certain therapies, others find no reason to accept them. Patients, parents, or relatives swear by them from personal experience, or others’ experiences. The same is applicable for ASD treatments. Hypotheses are proposed and experimented to explain autism’s unclear mechanism in the brain and its complex set of causes. In the process, novel treatments are developed based on these theories, even before convincing evidence has been shown of their validity.

One such theory is the Opioid Excess Theory, which attempts to explain the physiological mechanism of autistic behavior. It proposes that certain proteins from diets are broken down incorrectly in the body and reabsorbed by an abnormally permeable gut. Some of these byproducts cross through the blood-brain barrier and act as opiates (Shattock, Whiteley, 2002). Further studies show the correlation between this improper metabolism and certain autistic behaviors in rat models (Sun, Cade, 1999). These opiate-like peptides can be derived from two proteins called casein and gluten, which are found in common foods such as wheat bread or milk.

Thus, a dietary option called gluten-free, casein-free diet (GFCF diet) was offered as a treatment plan. Foods that contain gluten, such as wheat, rye, barley and oats, and those that have casein (most dairy products) are excluded from an autistic individual’s diet. If the Opioid Excess Theory is valid, by eliminating dietary intake of proteins that act as opiates in the brain, one can expect certain signs of autism to lessen over time.

Though the GFCF diet is sometimes recommended as a treatment approach to ASDs, there is controversy surrounding the effectiveness of the treatment. While experiments show that GFCF diet may in fact be helpful for an autistic individual, others show no significant findings. Scientific articles that evaluate research done about the effectiveness of GFCF found conflicting data on the subject (Mulloy et al., 2009). Since it is difficult to reproduce results for the GFCF diet, the evidence remains inconclusive.

However, many parents and relatives feel that every approach should be taken advantage of, especially if it is as simple as changing a diet. Research suggests that constricting an individual’s diet to gluten-free and casein-free products may contribute to nutritional deficiencies in children (Mulloy et al., 2009). Children with autism who were subjected to GFCF diets were shown to have deficient amounts of essential amino acids than those who were not on a restricted diet (Arnold, Hyman, Mooney, Kirby, 2009).

Gluten-free, casein-free diets have risen in popularity among individuals with autism because of the convenience of such a treatment approach. Although there is some scientific basis to alternative treatments, it is important to keep in mind that the effectiveness of restricted diets has not been established in ASD patients. It is also essential to consider the health risks associated with such treatments, which may hinder development in younger autistic individuals. These options are available, however, and may even prove effective with further research.

Reference:

Arnold, G., Hyman, S., Mooney, R., & Kirby, R. Plasma amino acids profiles in children with autism: Potential risk of nutritional deficiencies. Journal of Autism and Developmental Disorders. 2003; 33(4): 449–454.

Millward, C., Ferriter, M., Calver, S., Connell-Jones, G. Gluten- and casein-free diets for autistic spectrum disorder. Cochrane Database System Rev. 2008; (2).

Mulloy, A., Lang, R., O’Reilly, M., Sigafoos, J., Lancioni, G., Rispoli, M. Gluten-free and casin-free diets in the treatment of autism spectrum disorders: A systematic review. Research in Autism Spectrum Disorders 2010; 4(3): 328-339.

Shattock, P., Whiteley, P. Biochemical aspects in autism spectrum disorders: updating the opioid-excess theory and presenting new opportunities for biomedical intervention. Expert Opin. Ther. Targets. 2002; 6(2): 175-83.

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Internal

By: Meghana Reddy

Many autistic patients, depending on the severity of their illness, may need care for the rest of their lives, may never have a full conversation with anyone, and continue to live their lives through frustration, self-injury, and tears. The major therapies used to work with autism are physical, occupational, and speech therapy, and they mainly address the outward physical behaviors and social characteristics of autism.

But just addressing what you see on the outside doesn’t necessarily mean that the problem is thoroughly taken care of. Many patients with autism may have to be treated for other disorders as well. In addition to the primary condition of autism, many patients may also have co-morbid disorders, disorders that exist independently of autism but are occurring at the same time. These co-morbidities affect other bodily systems, like immune, neurological, and digestive health.

But because it’s difficult to detect these additional co-morbidities, especially in autistic patients because they can’t communicate their discomfort or pain as well as other patients can.

And of course, if the patients themselves can’t communicate what they’re feeling, the patient’s family, doctor, or therapist may be unable to recognize the symptoms, or intervene and treat them as necessary.

Perhaps if we were to have more thorough examinations of the patient once or twice a year, to monitor their status, we might be able to jump in if any problems arise. And if we are persistent with regular check-ups of patients, we may be able to lessen the effects on the patient in the long-run.