By Julia HartThe Etiology of Autism: From Refrigerator Mothers to Modern Mystery

Autism Spectrum DisordersAutism Spectrum Disorders (ASDs) are a class of neurodevelopmental disorders characterized by impairments in social reciprocity, atypical communication, and repetitive behaviors

Historical PerspectiveIn1943, Dr. Leo Kanner wrote a journal article which described the behaviors of 11 children with autism. Kanner called the disorder early infantile autism. This term was later replaced by the more modern, autistic disorder in the 1980s. Kanner found, that the children in his study all exhibited what he called extreme autistic aloneness, the tendency to ignore, shut out, or fail to respond to input coming from the surrounding social environment.

Historical EtiologyDuring the 1940s, 50s, and 60s, autism was thought to be a childhood form of schizophrenia due to the similar predisposition of persons with both conditions to become absorbed in an inner-world.

Refrigerator MothersBruno Bettelheim believed the connection between autism and schizophrenia was related to parenting practices, a common theory during this time. Bettelheim wrote:Infants, if totally deserted by humans before they have developed enough to shift for themselves, will die. And if their physical care is enough for survival but they are deserted emotionally, or are pushed beyond their capacity to cope, they will become autistic.

The Transition to ASDFrom Kanners diagnostic criteria for autism in the 1950s, autism was characterized as childhood schizophrenia in the DSM-II (1968). In 1980, the DSM-III removed this inaccurate classification and included autistic disorder as one of the Pervasive Developmental Disorders (PDDs).

ASD in the DSM-VASDs are defined by the presence or absence of behaviors in three areas: social reciprocity, communication, and repetitive behaviors When the DSM-V was published in 2013, Autism Spectrum Disorders replaced the label Pervasive Developmental Disorders.

Modern TheoriesMany theories exist as to the causes of autism and common behaviors of those with ASDs. These include: teratogen exposure during pregnancy, genetic factors, and environmental influences.While research has proven this to be untrue, many still believe that childhood vaccines cause autism.

Faulty TheoryVaccines have been a frequent target of blame by parents looking to explain their childs diagnosis. The fact that childrens ASD symptoms tend to become more obvious around the age that the MMR vaccine is administered has perpetuated this myth. Thimerasol in vaccines is NOT linked to autism and this theory has been disproved many times over.

Epigenetics and ASDEpigenetics refers to the influence of the environment upon genes. There is no single cause of autism, at least not one that has been identified thus far. The most logical explanation is a combination of genes, brain structure, and environmental influences. It is likely that some individuals have genetic predispositions toward ASD and that their experiences in utero and after birth may activate the genes that cause ASDs.

Genetics

Family and twin studies have shown that there is a recurrence risk of 2-8% for subsequent children in a family which already has 1 child with ASD. In twin studies, the concordance of ASD among identical twins is 77% and among fraternal twins is 31%.Both of these facts demonstrate a genetic link to ASD, although no one gene has been linked to autism.

Environmental InfluencesWhile refrigerator mothers are not to blame for ASD, prenatal exposures may be: Maternal influenza and rubella infections during pregnancy have been linked to higher incidents of ASDs. Exposure to medications such as thalidomide and valporic acid have been linked to autism Exposure to alcohol in utero is also linked to higher incidence of ASDs.Premature birth is linked to a higher risk of ASD in young children.After birth, heavy metal toxicity and pesticide exposure can cause symptoms similar to those of ASD.

Brain Structure and GenesChildren with ASD have been found to have atypical brain sizes, with macrocephaly present in about 60% of boys with ASD. One theory to explain this is that children with ASD do not undergo synaptic pruning in the same timeframe as do typically developing children.According to Benaron (2009), there are mutations in 2 gene families seen frequently in individuals with ASD. These gene families are responsible for controlling the process of synapse formation. This is a possible explanation for the dysregulated brain growth seen in some individuals with ASDs (p. 138).

Batshaw et al. (2013) wrote: One finding is that there is an impairment in Theory of Mind tasks requiring the networking of the medial prefrontal cortex, temporoparietal junction, and temporal poles with other brain regions (p. 350). Benaron (2009) explains this, underconnectivity between separate parts of the brain would be expected to disrupt the complicated neural circuitry that allows for perspective taking and empathy (p. 137).

Brain DifferencesfMRI studies have shown that children with ASDs view human faces in the part of the brain that typically developing children use for viewing objects. This demonstrates abnormal neural networks in individuals with ASD.

Mirror NeuronsBatshaw et al. (2013), wrote there is evidence that mirror neurons in the brain, which permit imitation of what an individual sees, may be functionally atypical (p. 348). This may be tied to the deficits in gestures and facial expressions seen in children with autism. Because children learn most social conventions through imitating their parents or other adults in their lives, these dysfunctional mirror neurons in persons with autism may be related to many of their social skill deficits.

Interventions for ASDThere are a wide variety of interventions utilized for ASDs. ABA therapy, DIR/Floortime, speech and language therapy, occupational therapy, special diets, and other intensive programs have all been used to target the symptoms and behaviors associated with ASD.

DIR/FloortimeDevelopmental, Individual-Difference, Relationship-Based (DIR)/Floortime is an evidence-based practice used to help children with ASD develop to their full potential. The method was developed by Dr. Stanley Greenspan.The Floortime model has parents attempt to engage with children while they are engaging in activities they enjoy to help open circles of communication. Floortime consists of the adult following the childs lead, rather than expecting the child to enter into adult-led play.

DIR/Floortime aims to help children reach 6 developmental milestones:Self-regulation and interest in the worldIntimacy, or engagement in human relationsTwo-way communicationComplex communicationEmotional ideasEmotional thinking

Floortime, cont.Because DIR/Floortime focuses on helping children develop social relationships and communication skills, it seems ideally suited to help overcome the social and communicative delays related to ASD.

The study by Pajareya and Nopmaneejumruslers, (2011) found that children participating in Floortime had greater gains in their abilities to engage, relate and communicate with their caregiver than those who received the routine behavioral interventions (p. 573).This seems to show that the symptoms of brain differences and genetic implications of ASD can be altered with the right interventions.

In ConclusionMany theories exist to explain the causes and symptoms of autism spectrum disorders. Researchers have devoted years of their lives and millions of dollars to further understand this topic, to speculate on the causes of autism as a casual observer is unnecessary, but a combination of causes seems likely. There are many approaches to intervention for children with ASDs, Floortime is just one example that seems promising.

Autism Speaks (n.d.). Floortime. Retrieved from: http://www.autismspeaks.org/what-autism/treatment/floortimeBatshaw, M. L., Roizen, N. J., & Lotrecchiano, G. R. (2013). Children with disabilities (7th ed.). Baltimore, MD: Paul H. Brooks Publishing Co.Benaron, L. (2009). Autism. Westport, CT: Greenwood Press.National Institute of Mental Health (n.d.). Autism spectrum disorders. Retrieved from: http://www.nimh.nih.gov/health/topics/autism-spectrum-disorders-pervasive-developmental-disorders/index.shtmlutm_source=rss_readers&utm_medium=rss&utm_campaign=rss_full#part6Pajareya, K. & Nopmaneejumruslers, K. (2011). A pilot randomized controlled trial of DIR/Floortime parent training intervention for pre-school children with autistic spectrum disorders. Autism, 15(5), 563-577. doi: 10.1177/1362361310386502Waltz, M. (2013). Autism : A social and medical history. New York, NY: Palgrave McMillan. Retrieved from http://www.gwu.eblib.com/patron/FullRecord.aspx?p=1161430

(Batshaw, Roizen, & Lotrecchiano, 2013, p. 345) *(Benaron, 2009, p. 3)*(Benaron, 2009)*(Bettelheim, 1967 as cited in Waltz, 2013, p. 73)*(Benaron, 2009)*(Batshaw et al., 2013)*(Benaron, 2009)*(Batshaw et al., 2013)*(Batshaw et al, 2013)*(Batshaw et al., 2013) (Benaron, 2009)**(Benaron, 2009)*(Batshaw et al., 2013) (National Institute of Mental Health, nd)*http://www.autismspeaks.org/what-autism/treatment/floortime(Pajareya & Nopmaneejumruslers, 2011)

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