Monday, June 13, 2011

The Nature and Nurture of Autism

The Nature and Nurture of Autism

Carolyn Cutter

PSY350: Physiological Psychology

Professor Maritza Leon-Velguela

June 13, 2011

The Nature and Nurture of Autism
            There is a saying among Autism support circles that "if you know one child with autism, you know ONE child with autism". In other words, yes there are characteristics, and yes many children with autism display similar symptoms, but many autistic children are also very unique in their behaviors and their ability to understand their world. One parent may claim that environmental factors caused their child’s autism while another parent may feel the guilt of a difficult pregnancy, and another parent may point to seemingly unavoidable biological indicators. Whatever the reasons they give one thing is for certain, we do not know any one specific cause of autism nor do we have a definitive cure, but the more we understand about the disorder the better chance we have of beating it.
Analysis the Physiological basis of Autism:
            Autistic Disorder or Autism Spectrum Disorders (ASD) is “a group of related developmental disabilities, caused by a problem with the brain, that affect a child's behavior, social, and communication skills” (AAP, 2009, p. 1). There are several diagnosis on the Autism Spectrum including, but not limited to “classic autistic disorder, pervasive developmental disorder-not otherwise specified (PDD-NOS), and Asperger’s Syndrome” (AAP, 2009, p. 1). Autism can include developmental delays, behavioral problems, cognitive disabilities, medical problems such as seizure disorder, sleep disorder, social and emotional issues, and regression of abilities in all areas.
Autism            seems to share “specific genes” with other mental illnesses such as “schizophrenia, and mental retardation” (Burbach, 2010, p. 1367). According to Burbach (2010) “a few genes that are suspected to be causal in autism and schizophrenia (eg, NLGN1, CNTN4, CNTN6)” (p. 1367) seem to show up in multiple illnesses, yet they do not indicate a person has one illness or the other. For example, if looking at these genes on a patient’s chart, a researcher may not be able to tell which illness the patient has if it is not listed on the chart. With this knowledge, the hope is that it would eventually “affect the way people think about and treat neurodevelopmental disorders by accounting for the biological consequence of the specific patient's genotype” (Burbach, 2010, p. 1367).
            According to Wegiel (et. Al.) “The genetic fractionation of social impairment, communication difficulties and rigid and repetitive behaviors suggests that different features of autism are caused by different genes associated with different brain regions and are related to different cognitive impairments and functional abnormalities” (2010, p. 755). Signs of malformation of the brain in autistic children are visible on a physiological level. For example: “abnormal acceleration of brain growth in early childhood, signs of slower growth of neurons, and minicolumn developmental abnormalities suggest multiregional alterations” (Wegiel et. Al., 2010, p. 755). “Intellectual impairments, defined as intelligence quotient (IQ) scores less than 70, were reported in 44.6% of children diagnosed with autism [28]. Epilepsy is observed in up to 33% of individuals with autism [106]” (Wegiel et. Al., 2010, p. 755).
            Interpreting the science behind the information we do have on autism is difficult. Still, researchers do their best to explain new discoveries into the puzzle of autism as they arise. Carlson (2011) explains, for example, how “abnormalities in the structure of the higher-order cerebral cortex of the autistic brain exist… such as spacing between the gyri in the frontal lobes and the number of neurons within them” (p. 479). Carlson also explains how “in the autistic brain, the volume of white matter containing short-range axons was increased, but the volume of white matter containing long-range axons that connect distant regions of the brain was not” (2011, p. 479). Taking another look through a different study, researchers found that “very common dysplastic changes within the neo- and archicortex, hippocampus and cerebellum in 12 of 13 examined brains of the autistic subjects (92%)… the general result of these developmental defects was a multifocal disorganization of gray and white matter” (Wegiel et. Al., 2010, p. 755). What all these numbers break down to is that there are real links to autistic disorder and abnormalities in the brain, and although we have yet to find one specific indicator of autism, these should be considered an insight into the autistic brain that we had no understanding of before this research was done. The more we discover through research of both physiological and environmental causes, the better understanding we will have of what autistic disorder really is and what its cause is.
Manifestation of symptoms:
There is no biological test for Autism, however there are indicators, symptoms that point to Autism Spectrum Disorder. Some symptoms are biological while others are behavioral. These include but are not limited to:
1. Biological:
a.     slow or no developmental growth
b.     lack of or slowed motors kills development
c.     abnormal size brain
d.     certain genetic indicators
e.     other abnormalities in the brain [“Autistic brains also show abnormality in white matter” (Carlson, 2011, p. 479)]
f.      complete regression (can also be behavioral)
g.     seizure disorder (is seen in 30% of Autistic children, although seizure disorder alone does not indicate a child has autism)
2. Behavioral
a.     lack of social development or interest in people or inability to recognize social cues
b.     inability to comprehend facial recognition or to recognize emotions in a face
c.     inability to comprehend language or loss of ability to communicate
d.     flapping of the hands or repetitive motion with other parts of the body, including banging one’s head or spinning in circles
e.     apparent disdain for affection or being held, especially as an infant
The American Academy of Pediatrics (2009) recommends developmental screenings “at every well-child visit, with tests administered regularly at the 9-, 18-, and 30-month visits” (p. 1). Further study by the Legislative Blue Ribbon Commission on Autism (2006) has identified “a number of developmental ‘red flags’ that can indicate ASD in young children: poor eye contact, reduced responsive smiling, diminished babbling, reduced social responsivity [sic], and difficulty with language development, play, and initiating or sustaining social interaction” (p. 1). It is important for parents and physicians to be on the look out for both developmental delay and developmental regression, as some children can be misdiagnosed do to the misconstrued belief that autism is easy to spot. According to the National Institute of Neurological Disorders and Stroke (2010) “the hallmark feature of ASD is impaired social interaction” (p. 1), but this may not be seen until the child is much older.
Then and Now
            In the late 1970s, Autism was believed to be a disorder brought on by the mother. It was largely believed to be an environmentally based condition brought on by neglectful parents, or what was often referred to as “refrigerator moms”. Although there were no indications that children with Autism suffered from neglect or abuse, other than their apparent inability to form social connections, what could not be explained physiologically must then be a mental or psychological disorder triggered by a poor environment. To further explore this inane explanation of Autism, one researcher, Alan J. Ward, went so far as to claim that mothers who had mental issues during pregnancy somehow transferred their emotional instability to the child in the womb through “the composition of the maternal blood that is transmitted to the fetus” (Science News, 1977, p. 374). Today we understand that there are a multitude of indicators for autistic disorder, but not one of them includes the parent’s inability to love their child. Autism, like any other mental illness is a disorder that needs to be researched, understood, and treated.
Genetic and Environmental influences:
Autism is considered by many to be a lifelong, incurable disorder. It is likely that moderate or severely impaired functioning ASD children will need care into adulthood. Brain damage and poor brain development are some causes of Autism, but the triggers that allow ASD to form are still unknown. Some ideas include heavy metals such as those found in certain types of vaccinations (Mercury); chemicals and toxins in the air and water, and in and on our food are all contributing factors.
One of the nation's leading voices on children's environmental health has called for focused and expanded research into the cause-effect relation between industrial chemicals and autism. “For the moment, at least, genetic factors are thought to account for only 7 to 8 percent of autism cases, Landrigan wrote” (Higgs, 2010). “Today's children,” he noted, "are at risk of exposure to 3,000 synthetic chemicals produced in quantities of more than 1 million pounds per year, termed high-production-volume (HPV) chemicals. HPV chemicals are found in a wide array of consumer goods, cosmetics, medications, motor fuels and building materials” (Higgs, 2010). Landrigan suggests toxicology screenings should be a routine part of prenatal care and may help in the prevention of autism.
Until recently, most infant vaccinations contained traces of mercury, and although vaccinations alone are not considered to be a proven cause of ASD, for infants already prone to the disorder, the metal may not be properly filtered through their body. One controversial treatment, chelation is still in debate. “Chelation involves ridding the body of metals, including mercury” (Larson, 2006, video online ed.). What used to be an invasive process can now be done through oral medications and even a cream rubbed into the skin- its function to bond to the mercury in the body and excrete it from the body.
Treatment of Autism can be rather controversial, nonetheless, until a cure is found, people affected by autism or parents of children somewhere along the autism spectrum will seek out whatever treatments are available to them that may be affective. Although children who are diagnosed as Autistic have no control over their behavior in the sense that they do not choose to manifest their symptoms, like many other mental disorders or illnesses, the behavior is unfortunately still damaging to themselves and the people around them. According to Long (2011) "Psychological Disorders or Abnormal Behavior refers to behavior that is either deviant, maladaptive, or personally distressful" (p. 1). Maladaptive behavior is that which is "self-defeating behavior often resulting in greater rather than less stress". Although autistic disorder does not have a definitive cause as of yet, it is believed that both biological and environmental factors contribute to the disorder. That being said, the point in treating maladaptive behaviors associated with autism is to help the child cope with the disorder, and of course to try and cure the child. Although no cure has been found for autism, many treatments are available which can help the child both learn to manage some of their behaviors, and treat conditional symptoms or conditions associated with autism such as obsessive-compulsive disorder, seizure disorder, and language impairment.
Biological approach to treatment (the neurological aspects of the disorder):
a.                    pre-natal vitamins before the first few months and during the first trimester of pregnancy
b.                   chelation therapy- the removal of heavy metals, particularly mercury, in the body
c.                    treatment of disorders associated with autism such as medication for sleep disorder or seizure disorder
d.                   no genetic testing is yet available for autism
New research suggests “consuming prenatal vitamins may be especially effective for genetically susceptible mothers and their children” (NewsRX Health & Science, 2011, p. 263). In the study, women were surveyed as to whether or not they consumed prenatal vitamins prior to and during their pregnancy. “For women with a particular high-risk genetic make up who reported not taking prenatal vitamins, the estimated risk of having a child with autism was as much as seven times greater than in women who did report taking prenatal vitamins and who had more favorable gene variants, the study found” (NewsRX Health & Science, 2011, p. 263). It is speculated that it’s like the “folic acid, the synthetic form of folate or vitamin B9, and the other B vitamins in prenatal supplements that protect against deficits in early fetal brain development” (NewsRX Health & Science, 2011, p. 263). Because folate is known to be critical to neurodevelopment and studies have found that supplemental folic acid has the potential to prevent up to 70 percent of neural tube defects, whether ASD is related to genetic or environmental triggers, one cannot deny that the use of prenatal vitamins early on, especially for those planning to become pregnant outweighs the potential risk of ASD or other brain developmental malformations.
A new study “has identified rare de novo mutations in SHANK2 in individuals with autism and/or mental retardation. SHANK2 encodes a scaffolding protein present in excitatory synapses. This finding sheds some light on the pathophysiology of social and cognitive disability” (State, 2010, p. 478). This information suggests, “ASD and mental retardation to some degree reflect dynamic, reversible and targetable processes represents an extraordinary paradigm shift” (State, 2010, p. 478). The science behind it can be difficult for the average individual to interpret, but “the notion that ASD and mental retardation to some degree reflect dynamic, reversible and targetable processes represents an extraordinary paradigm shift” (State, 2010, p. 478).
Environmental approach to treatment:
1.     Applied Behavioral Analysis (ABA) Therapy
2.     Sensory Therapy
3.     Speech Therapy
4.     Early-intervention education and Preschool programs
5.     Special Diet- typically gluten/caseins-free diet
One mother seeking treatment for her autistic son seems to have found her answer in an unusual way, through the words of her son’s specialist, Dr. Vivian; “those words still ring in my head [says the mother] whenever a decision has to be made for Joshua, 'Do what works for YOUR child, treat the symptoms, not the diagnosis of autism, key into what his weaknesses are and treat them individually. It's about Joshua, not the label” (Raziqueh, 2011, p. 1). Joshua participates in therapy at school and at home, including programs like Applied Behavioral Analysis (ABA) therapy.
            Dr. Kenneth Bock insists that imbalances in the body, particularly in the digestive system “can create abnormal behaviors and can cause cognitive dysfunction or ‘brain fog’… they [autistic children] have this imbalanced intestinal flora called dysbiosis” and that a simple change in diet such as consumption of gluten-free and casein-free foods can cause remarkable turnarounds in autistic-like behavior such as stemming and physical aggression (Belli, 2010, p. 31).
            Another type of environmental treatment seems affective in young children with high functioning ASD. These children “may benefit from Cognitive Behavioral Therapy (CBT) which aims to improve regulation of anger and anxiety, and parent training may improve parental self-efficacy” (Scarpa, 2011, p. 495). Studies have shown CBT to improve the child’s ability to control emotional outbursts as well as an increase in parents’ confidence in their children’s abilities.
            Getting a diagnosis at a younger age, such as before age three gives the autistic person the advantage of receiving early intervention services. These services have been shown to help children with Autism function at a higher rate than those who do not receive early intervention services. For example, military medical coverage allows those diagnosed with a mental or cognitive delay to receive EDIS (early diagnostic intervention services) programs which can help prepare the child for preschool with programs set to increase their motor skills, cognitive abilities, social awareness, self-help skills, speech, and more. Having these programs early on not only gives the child a head start, it also eases the transition for the child into a school program, particularly if it is a mixed-abilities classroom, as well as giving background information and programs for use on the child’s IEP (Individualized Educational Program) that they will need for their educational goals for school.
In elementary schools the services available vary depending on the resources available in that area. Although this should not be the case it is an unfortunate truth. However, if a school cannot provide the services needed for that child and those services are clearly defined in the child’s IEP, the parent can request the child attend a school that does offer adequate services at the districts expense. Programs readily available include speech therapy session as well as occupational therapy, and sometimes classroom removal for specialized educational time devoted to the needs of the child or group of children with special needs including autism. Some schools offer separate classes while other school incorporate a mixed-abilities classroom. Students often usually have access to an aid that helps with basic activities up to a one-on-one aid for severe needs.
            “Before the 1990s, the prevalence of autism was estimated at one in 2000, but today autism spectrum disorders are thought to affect one in 110, with an overall autism prevalence 20 times higher than past estimates, according to the US Centers for Disease Control” (Gee, 2010, p. 1451). What is more startling is that "those numbers, extraordinary as they are, are not leveling off" says Thomas Insel, director of the US National Institute of Mental Health (Gee, 2010, p. 1451). Researchers say, studies of clusters and increased prevalence are indicating just how little understood autism really is- environmental and social factors are interacting with genetics in unknown ways to produce the disease. "There are just so many things contributing to it", says Van Meter. "There's no smoking gun" (Gee, 2010, p. 1451). Autism has yet to find its cure, but early intervention is key to providing the best scenario for a child with Autism to move beyond the expectations of the untreated disorder.
            ASD not only affects a child’s development, but it also affects their brain on a very complex level. It is believed through research and development that autism is caused by a combination of biological, genetic, and environmental factors, and that some children are more receptive to the disability than others. Autism not only affects development, but it changes a child’s behavior, their cognitive abilities, and their social and emotional development. It is unknown why autism seems to be increasing at an alarming rate, although more defined diagnosis might be a contributing factor. Although research in the field is growing and public awareness is becoming more common, there is still much research that needs to be done in order to better understand the physiological and psychological aspects of autism and the biological and environmental causes. One thing we do know for certain is that the more we understand about the disorder the better chance we have for finding a cure.

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