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Autism Spectrum Disorder and Epigenetic Links Samantha Hamilton Faculty Mentor: Dr. John Sollinger Southern Oregon University Autism Spectrum Disorder and Epigenetic Links Samantha Hamilton Faculty Mentor: Dr. John Sollinger Southern Oregon University Autism Spectrum Disorder and Epigenetic Links Hamilton | 2 The Epigenetics of Autism Autism spectrum disorders (ASD) are a group of childhood neurodevelopmental disorders that contribute to problems with social interaction, communication, and repetitive behavior (Grafodatskaya, Chung, & Szatmari 2010). Along with autism, asperger syndrome, rett syndrome, and pervasive developmental disorder are all forms of ASD. Among ASD, autism is highly diagnosed. A diagnosis of autism is based on impairments in two domains, reciprocal social communication, and repetitive, stereotyped, and ritualistic verbal and non-verbal behaviors (Toro et al., 2010). The DSM-IV criteria for diagnosis are discussed later. Often the symptoms of autism vary from patient to patient which creates confusion and difficulty in making a diagnosis. The foundation Autism Speaks is noted for determining that “If you know one person with autism, you know one person with autism”. The insight of parents is often the first and best tool leading to a diagnosis. Recently research has been conducted linking autism and other ASD to genetic components. Although no single gene has been highlighted as the specific link for autism, many genes appear to play a role in the disorder. Many genetic phenomena involve inherited or sex- linked mutations; however others appear to arise de novo. Both genetic and environmental factors are found to play a role in autism by influencing fetal or early brain development (Grafodatskaya et al., 2010). Many environmental factors have been determined to increase the risk for developing de novo mutations and autism including heavy metals, latitude, precipitation, sun exposure, and vitamin D deficiency (Kinney, Barch, Chayka, Napoleon, & Munir 2010). These de novo mutations are characterized by single-nucleotide polymorphisms (SNPs) and copy number variants that are the result of chromosomal abnormalities, including large deletions and duplications (Guerra, 2011). Researchers have found more than 5,000 copy number variants in people with autism disorder, and usually DNA was missing in more than one section of the genome (Saey, 2010). Recent research also suggests that the genes thought to be contributors for autism are likely to be pleiotropic (Wilkins, 2009). Pleiotrophy is when one gene is responsible for or affecting more than one phenotypic character. The phenomenon of pleiotrophy could explain the high frequency that autism is found within the world. Symptoms The symptoms of autism vary widely between those diagnosed, as well as the affected areas of communication and social interaction, repetitive behaviors, and physical and mental delay. The symptoms listed below were taken from the National Institute of Mental Health (National Institute of Mental Health (NIMH), 2011) and typically last a lifetime, but early intervention can make a difference in the development achieved and symptoms experienced by the child diagnosed. Children with autism tend to experience difficulty learning how to engage in everyday interactions. Many avoid eye contact and often prefer being alone. Many resist attention or physical contact. Often nonverbal communication is hard to grasp for a child with autism, and they are not able to experience the world from another’s perspective. Empathy is a common character trait not found in autistic children. Often, emotional regulation is a difficult task, and a tendency to become angry and frustrated accompanies physical aggression. Autism Spectrum Disorder and Epigenetic Links Hamilton | 3 Some children diagnosed with autism remain mute throughout their lives; however, the majority develop spoken language or learn to communicate through different techniques such as sign language. Often a delay in language or the inability to regulate a conversation accompanies those diagnosed with autism. Normal body language and verbal expression are absent from conversations, making it difficult to perceive what an autistic individual needs. As children, individuals diagnosed with autism often engage in odd, repetitive motions that can sustain through adulthood. Many children need and demand absolute consistency in their daily routines and are extremely stressed by slight changes. Often repetitive behavior is found in the form of an intense preoccupation, sometimes with unusual content such as fans. In as many as 39% of people diagnosed with autism, Epilepsy is also found. It is more commonly found in children who also experience regression in skills. Many children diagnosed with autism also experience gastrointestinal problems, such as gastritis, chronic constipation, colitis, celiac disease, and esophagitis. Although the exact number of autistic children who suffer from these ailments is unknown, it is estimated to be between 46-85% (NIMH, 2011). Another common symptom of autistic children and adults are sleep problems. Research has suggested a link between autism and the melatonin synthesis pathway that results in an abnormal circadian rhythm and sleep problems (Fradin et al., 2010). Many children with autism experience unusual responses to certain stimuli, such as vision, hearing, touch, smell, taste, movement, and position. Often“normal” stimuli, for those not affected by autism, can be experienced as painful or unpleasant to those affected. This symptom is Sensory Integration Dysfunction and can involve hypersensitivity or hyposensitivity (NIMH, 2011). The treatment for these symptoms is discussed below and involves treatment for the underlying conditions as well as behavior modification techniques. Diagnosis Autism characteristics appear during the early stages of development and often are patterned by a period of normal development followed by a period of regression. Typically this happens within the first two to four years of life with a loss of social, cognitive, and language skills as well as stereotypic behaviors (Lopez-Rangel & Lewis, 2006). Studies have found that individuals with ASD have altered neuronal organization, cortical connectivity, neurotransmitter pathways, and brain growth (Grafodatskaya et al., 2010). Listed below are the DSM-IV criteria for diagnosis of autism. A total of six or more items from heading (A), (B), or (C), with at least two from (A), and one each from (B) and (C): (A) Qualitative impairment in social interaction, as manifested by at least two of the following: Marked impairments in the use of multiple nonverbal behaviors such as eye-to-eye gaze, facial expression, body posture, and gestures to regulate social interaction. Failure to develop peer relationships appropriate to developmental level. A lack of spontaneous seeking to share enjoyment, interests, or achievements with other people. A lack of social or emotional reciprocity. Autism Spectrum Disorder and Epigenetic Links Hamilton | 4 (B) Qualitative impairments in communication as manifested by at least one of the following: Delay in or total lack of, the development of spoken language. In individuals with adequate speech, marked impairment in the ability to initiate or sustain a conversation with others. Stereotyped and repetitive use of language or idiosyncratic language. Lack of varied, spontaneous make-believe play or social imitative play appropriate to developmental level. (C) Restricted repetitive and stereotyped patterns of behavior, interests and activities, as manifested by at least two of the following: Encompassing preoccupation with one or more stereotyped and restricted patterns of interest that is abnormal either in intensity or focus. Apparently inflexible adherence to specific, nonfunctional routines or rituals. Stereotyped and repetitive motor mannerisms. Persistent preoccupation with parts of objects. Delays or abnormal functioning in at least one of the following areas, with onset prior to age three years: (A) Social interaction. (B) Language is used in social communication. (C) Symbolic or imaginative play. The disturbance is not better accounted for by Rett’s Disorder or Childhood Disintegrative Disorder (Diagnostic and Statistical Manual of Mental Disorders; Fourth Edition, 2000). Parents of a child who is exhibiting autism-like signs between 16 and 30 months are often asked to use the Modified Checklist for Autism in Toddlers (M-CHAT; Robins, Fein, & Barton, 1999) to determine if follow up, specialty care is necessary. The M-CHAT is widely used but is a screening tool and should be used in conjunction with proper medical care. See appendix 1 for M-CHAT and scoring guidelines. Often children diagnosed with autism also have other health or mental conditions, with the most common of these being sensory problems, mental retardation, seizures, Fragile X Syndrome, or Tuberous Sclerosis (National Institute of Mental Health (NIMH), 2011). Treatment The treatment for autism is a multifactor process that involves deep commitment from the family and caretakers of the autistic individual. The most frequently applied techniques include: treatment for the core symptoms of autism, applied behavior analysis, pivotal response therapy, verbal behavior therapy, floor time, relationship development intervention, training and education of autistic and related communication handicapped children, social communication/emotional regulation/transactional support, the son-rise program, and treatment for biological and medical conditions associated with autism (Autism Speaks, Inc, 2011). This multifaceted
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