AutismSpectrumDisorder (ASD) is a neurological impairment where the child has a problem interacting with others, has trou- ble communicating verbally and non-verbally, and exhibits odd behaviors such as repeating certain actions over and over again and acting out if something does not go according to routine (Block et. al., 2006). A child with ASD will have trouble making eye contact with those interacting with him and will be unable to understand what others are thinking or feeling because they have trouble picking up on social cues (“What is Autism”, 2009) ASD is predicted to occur in three to six children for every 1000 who are born. It is 5 times more likely for a male to get autism than a female, however if a female does have autism her symptoms are more severe. AutismSpectrumDisorder is cat- egorized as a pervasive developmental disorder because there are many different symptoms and behaviors for people with autism. Someone who has severe symptoms of autism can be placed on one end of the spectrum, while someone with a mild- er case can be on the opposite end of the spectrum. Different forms of ASD include Rett’s disorder, childhood disintegrative disorder, and Asperger’s syndrome. (Block et. al., 2006).
Abstract: Autismspectrumdisorder (ASD) is a genetically determined neurodevelopmental brain disorder presenting with restricted, repetitive patterns of behaviors, interests, and activi- ties, or persistent deficits in social communication and social interaction. ASD is characterized by many different clinical endophenotypes and is potentially linked with certain comorbidities. According to current recommendations, children with ASD are at risk of having alimentary tract disorders – mainly, they are at a greater risk of general gastrointestinal (GI) concerns, con- stipation, diarrhea, and abdominal pain. GI symptoms may overlap with ASD core symptoms through different mechanisms. These mechanisms include multilevel pathways in the gut–brain axis contributing to alterations in behavior and cognition. Shared pathogenetic factors and pathophysiological mechanisms possibly linking ASD and GI disturbances, as shown by most recent studies, include intestinal inflammation with or without autoimmunity, immunoglobulin E-mediated and/or cell-mediated GI food allergies as well as gluten-related disorders (celiac disease, wheat allergy, non-celiac gluten sensitivity), visceral hypersensitivity linked with functional abdominal pain, and dysautonomia linked with GI dysmotility and gastroesophageal reflux. Dysregulation of the gut microbiome has also been shown to be involved in modulating GI functions with the ability to affect intestinal permeability, mucosal immune function, and intestinal motility and sensitivity. Metabolic activity of the microbiome and dietary components are currently suspected to be associated with alterations in behavior and cognition also in patients with other neurodegenerative diseases. All the above-listed GI factors may contribute to brain dysfunction and neuroinflammation depending upon an individual patient’s genetic vulnerability. Due to a possible clinical endophenotype presenting as comorbidity of ASD and GI disorders, we propose treating this situation as an “overlap syndrome”. Practical use of the concept of an overlap syndrome of ASD and GI disorders may help in identifying those children with ASD who suffer from an alimentary tract disease. Unexplained worsening of nonverbal behaviors (agitation, anxiety, aggression, self-injury, sleep deprivation) should alert professionals about this possibility. This may shorten the time to diagnosis and treatment commencement, and thereby alleviate both GI and ASD symptoms through reducing pain, stress, or discomfort. Furthermore, this may also protect children against unnecessary dietary experiments and restrictions that have no medical indications. A personalized approach to each patient is necessary. Our understanding of ASDs has come a long way, but further studies and more systematic research are warranted.
deficit, if found, might be associated with some kind of neurological abnormality which would explain the nature of the disorder. However, no theory so far advanced has been able to do this and several autism researchers are now asking whether any such explanation is even possible (e.g. Happé, Ronald & Plomin, 2006). Typically, the psychological theories put forward have tended to focus on hypothesised cognitive deficiencies in people with an autism diagnosis. These include a “theory of mind” deficit (an impaired ability to understand the mental states of others), weak central coherence (difficulty in integrating detailed information into larger meaningful wholes), and executive function deficit (an inability to plan and co-ordinate actions to achieve intended goals). Although other psychological deficits have also been
The strict requirements for the computations in the brain can be corrupted in diverse ways. For exam- ple, the frequencies or strengths of brain oscillations may change, the amplitudes of these oscillations may go out of control, the wiring may be corrupted, and the selective procedure may be weak, to name a few possible types of corruption. Such corruptions have dis- tinctive names, such as schizophrenia, epilepsy, micro- or macrocephaly, noisy brain, and others. However, if they are weak, but occur in combination, then the associated distinctive phenomena can corrupt learning, manipulation and the control of more complex tasks, such as language and social behavior. Social behavior, for example, involves dynamic internal and external in- puts - at least two players, the target of the interaction, interests, goals, strategic thinking about reaching the goal, an understanding of the other player’s feelings and beliefs, problem detection, and rapid decision mak- ing to seek solutions or compromises when partners face barriers. Additionally, internal factors, such as mood and motivation, may be influenced by other vari- ables. The co-occurring impairments can corrupt any element on that list, and comorbidities can manifest in diverse ways. In our view, this is autistic spectrumdisorder (ASD).
Down Syndrome, partial agenesis of the corpus callosum, global developmental delay) may have been attributed to the comorbid disorders despite parental concerns that “something else” was going on. For example, one respondent answered “Pediatrician thought symptoms were due to Down Syndrome.” Similarly, a second respondent stated of their child with partial agenesis of the corpus callosum that “we were told that because of [her condition] she could not have autism. We fought for years before someone would finally do research and discovered she can have both.” Another respondent replied, “We were told the answers to an 8 question screening indicated possibleautism. We were surprised when the doctor suggested that we might want to change some of our answers. We didn’t change our answers, but it did make us concerned about our child’s doctor.” Presumably, these parents were able to get a referral for diagnostic services that ultimately validated their concerns. It was hypothesized that a binomial regression to inspect factors predicting this experience would show that an increase in ASD symptom severity (as measured by the ASD-DC) would correspond with a decreased likelihood of perceiving professional reassurances as a barrier to diagnosis. It was also hypothesized that increased education of parents would also correspond with a decrease in perceiving this barrier, as more educated parents may be better able to engage in good-quality research prior to appointments and thus may be able to speak more precisely about their child’s symptoms and ask more pointed questions about autism-specific concerns. However, while ASD-DC total score and caregiver educational attainment were closer to statistical significance than the other variables (at p = 2.89 and p = .259 respectively), these values are still far from statistical or clinical significance. In the context of the available information, there were no statistically significant predictors of
ASD patients performed the recommended clinical tests to rule-out medical causes of ASD, including neurological examination, audiometry, evaluation of thy- roid function, array comparative genomic hybridization, DNA analysis of FRA-X and screening tests for inborn errors of metabolism. The subjects with a diagnosis of organic GI Disorder (i.e. GERD, food allergies, IBD, coeliac disease) were excluded because they are less fre- quently referred to our ASD Unit than subjects with functional GI symptoms, possibly causing a numerical imbalance. Subjects with special diet (i.e. gluten-free diet, casein-free diet, high-protein diet, ketogenic diet) were also excluded.
Due to our small sample size, the relationship between ASD and HC baseline parameters and cesarean section, breastfeeding and other factors, as well as the occurrence of ASD and gut microbiota imbalance, did not signifi- cantly differ. Autism is also a disease that is affected by multiple genes and environmental factors. However, the impact of genetic factors is not considered in our present research. Thus, further studies with a larger sample and prospective follow-up study is needed. However, our re- sults demonstrated that it might be possible to improve the state of the nervous system development in patients with ASD by altering the food intake of children with ASD, thus interfering in a positive manner with the com- position of the gut microbiota [19–21].
The current clinical practice in psychiatry focuses on the use of medications in ASD by targeting specific associated symptoms, not unlike that in the management of other mental health conditions. There are well-established and licensed antipsychotic medications for the treatment of specific symptoms associated with ASD. For example, risperidone and aripiprazole target the management of symptoms, such as irritability and hyperactivity. Findings from trials for other medications have been less consistent. For example, antide- pressants and mood stabilizers have been reported to be asso- ciated with tolerability issues that need to be balanced against possible benefits. The use of atomoxetine and stimulants remains positive for targeted symptoms, although the ASD population is potentially more vulnerable to adverse events. These medications, coupled with a good clinical understand- ing of the patient’s strengths and difficulties, as well as functional analysis of behavior combined with psychological strategies, may be helpful for some persons with ASD. While the associated symptoms in ASD may be ameliorated, many of these symptoms are manifestations that stem from the core social communication difficulties and repetitive, restricted behaviors in this population. For instance, anxiety in ASD may result from difficulties in peer interactions or problems adjusting to changes in the environment. This intrinsically limits the benefits from traditional pharmacology as the core deficits in ASD are not directly addressed.
The first data obtained was from a questionnaire. The questionnaire served as a tool to obtain informed consent in electronic format and ensure the participants met the selected requirements to be in the study (see Appendix C). The questionnaire was composed in Google Docs, and a link was sent to possible participants in an invitation email (see Appendix A). Therefore, the informed consent was on the first page of the questionnaire and the first item explained the purpose of the study and obtained consent from the participants. As possible participants received the invitation, they read and completed the demographic questionnaire electronically. The following questions ensured the respondents were parents of children with ASD who were served in a special education program within Creek County School District at the time of the study. Additional ethical considerations were made due to the human nature of the study and the emotions or stressors that could have risen from reliving experiences. Therefore, I included two questions relating to the current level of stress for the responders. The purpose of these questions was to identify individuals who may be undergoing extreme stress and dismiss the individual from the study in an effort to prevent further distress the study may cause. Two possible participants were dismissed due to personal stress ratings obtained in the initial
The IA account (Pickering & Garrod, 2004) views alignment as the product of priming mechanisms, and not as a process which is mediated by beliefs about an interlocutor’s mental states or social identity (hence the term ‘unmediated’). A central tenet of the IA account is that alignment is a largely automatic, unconscious process, occurring as interlocutors converge on linguistic representations. This idea is based on substantial evidence from decontextualized studies of language processing, which show that production is influenced by prior exposure to related linguistic stimuli (Branigan, Pickering, Stewart, & McLean, 2000a); for example, Bock (1986) found that speakers were more likely to repeat the syntactic forms of primes in subsequent utterances. Thus, according to the IA account, alignment comes about for two related reasons: (1) interlocutors prime each other at different levels of representation (e.g., syntax; lexis; semantics); and (2) this is possible because of bidirectional alignment channels, which allow representations to be shared across production and comprehension (see Figure 2). A recent review of neuroimaging research (Menenti, Pickering, & Garrod, 2012) concluded that there is a neural basis for representational parity in production and comprehension processes.
Workers with ASD undertake emotion work to minimise the appearance of their condition in order to preserve their identity and relationships in the workplace, this can be challenging as individuals with ASD may struggle in social situations as part of their diagnosis. Participants in this study indicated that discomfort in social situations and a lack of understanding of social cues are causes of difficulty in their workplaces, which manifest themselves in different ways that often have negative consequences for the individual. This difficulty will be explored through the three themes identified in the analysis.
practitioners are trained and come to make sense of their interactions with children with ASD and their families. Indeed, there have been a number of recently developed approaches, again primarily using CA, that have sought to present detailed analyses of professional-client interaction back to professionals in order to draw attention to previously tacit interactional behaviours that may be facilitating or counterproductive for the practice at hand (see Heritage et al., 2007; Stokoe, 2014). As with possible applications of DA and CA for assessment and intervention, there are again clear opportunities for developing systemic practice around complex behaviours afforded by use of these approaches in the context of ASD. It is here that we invite the readers of the Journal of Autism and Developmental Disorders to both engage critically with the articles included within this special section and begin to envision how these types of methodologically rich work might inform the field of ASD in the future. Further, we call for ongoing dialogue around how these approaches to research may shape practice.
It is important to acknowledge the relatively small sample size as a possible limitation of the current study. This was, unfortunately, inevitable given a very careful sampling procedure that ensured that groups were closely matched in terms of age, IQ as well as alexithymia, whilst also ensuring a representative range of alexithymia within each group. Importantly, the inclusion of a substantial number of experimental trials and the fact that robust correlations were observed where expected, suggests that the sample size was sufficient for the aims of this study. Moreover, a power analysis suggested that over 300 participants would be needed in each group to observe reliable differences between ASD and TD participants in the correlations of key interest. Although this further suggests that differences between groups are negligible, the present findings should be considered preliminary and further studies are necessary to establish how far the current observations generalise to the broader autismspectrum.
Bruck et al. (2007) also reported no difference in suggestibility between ASD and comparison groups of children. However, in a second experiment where participants completed an autobiographical questionnaire, Bruck et al. included three “silly” items (e.g., “Have you ever helped a lady find a monkey in the park”). These were mixed in with the 12 life event questions in their questionnaire in order to ascertain that answers were reliable. As expected, the typically developing children were less suggestible to the silly questions than to the life event questions. The ASD children, however, were equally as suggestible to both types of questions. Bruck et al. have argued that because the ASD children were only more suggestible than the typical children for the silly questions, but not for the 12 more plausible life event questions, that this effect does not simply reflect a greater compliance to leading or suggestive questioning. Instead, it appears to reflect a constant pattern of compliance across suggestion type, whether it is related to what actually happened or not. Thus, whilst the ASD and typical children were equally as suggestible to questions that were familiar to what actually happened, the typically developing children appeared to use their complete lack of unfamiliarity to never before heard false items to reject suggestions by the interviewer. By contrast, the children with ASD failed to use a lack of familiarity to identify the interviewer’s suggestions as a whole different version of events, meaning they were as suggestible to these questions as they were the more plausible questions. These findings have important implications for legal questioning in real-life cases whereby children with ASD may be more susceptible to acquiesce to biased interviewers who either do not believe the child’s version of events, or wish to elicit an entirely different version of events from them in order to defend or acquit a suspect. Whereas typical individuals appear to be resistant to such an outright change in versions of events, it is possible that children with ASD might be more malleable in their testimony.
The defining reciprocal social impairments of ASD are inter alia characterised by difficulties with emotion related processes such as understanding, empathising and reciprocating emotional expressions in others (e.g., Dawson, Hill, Spencer & Galpert, 1990; Hobson, 2002; Kasari, Sigman, Mundy, & Yirmiya, 1990). It is therefore possible that people with ASD do not exhibit the same memory advantage for arousing as compared to neutral events as typical participants do, thus contributing to the poorer eyewitness testimonies in this disorder. To date, only four studies have examined whether individuals with ASD exhibit a typical memory advantage for emotionally significant information and the results from these are rather mixed. Beversdorf and colleagues (Beversdorf et al., 1998) found that high- functioning adults with ASD did not show enhanced memory for emotionally charged compared to neutral sentences like typically developed adults do. Similarly Deruelle et al. (2008) reported no effect of emotional content on memory in an ASD group when positive, negative and neutral images were used as stimuli. By contrast, South and colleagues (South, Ozonoff, Suchy, Kesner, McMahon, et al. 2008) found no differences between individuals with and without ASD in terms of their enhanced memory for emotionally salient as compared to neutral words. Finally, Gaigg and Bowler (2008) also failed to note differences between ASD and comparison individuals when assessing memory for emotionally charged and neutral words on an immediate test of memory. However, when these authors assessed memory again following a 1-hour and 1-day delay, the advantage for emotional material had faded for the ASD group whilst it had increased for the typical comparison group.
hypothesis (Bowler et al., 2004) is useful only up to a point; support is beneficial if clues to the content of the recalled material are provided at test. When clues to the memory process are provided, as in the CI, then overall accuracy is compromised. It is possible that individuals with ASD either do not encode, store, or have difficulty retrieving contextual information surrounding an event in the same way as typical individuals, or that these contextual details are not bound with their memory for details of the event itself; if there is looser item-context binding, then CR would naturally be a less effective cue. Moreover, when asked to mentally reinstate the context and then report the event, not only does CR fail to increase the amount of correct details reported, it also decreases their accuracy by confounding their original memory leading them to go on to erroneously report incorrect details. This was found despite an explicit warning to only report accurate information and not to guess or fabricate, and may have been further exacerbated by the ‘report all’ instruction which emphasises quantity, even if seemingly minor, insignificant or partial. Another
Even when participants did have contact with their friends, a lot of this contact was electronic and therefore did not require the use of more complex interpersonal skills. The use of electronic communication by people with EDs is again under-researched, but may be suggestive of interpersonal communication difficulties. Clearly, in today’s society, a lot of young people communicate via e-mails, text messages and social media websites; and it would be ludicrous to suggest that all adolescents suffer from socio-communicative deficits. In the context of interpersonal communication and EDs, however, it has been found that women with high levels of ED symp- toms are less accurate at recognising happy and neutral facial expressions (Jones, Harmer, Cowen & Cooper, 2008). Fear of, or difficulty in interpreting another person’s emotional state may lead people with EDs to avoid face to face communication (Davies, Schmidt, Stahl, & Tchanturia, 2011) and as a result show a preference for electronic communication. Difficulties in emotion recognition have also been observed in individuals with ASD, with a recent meta-analysis of 16 studies concluding that individuals with ASD have difficulties in the recogni- tion of five out of the six universal emotions (Uljarevic & Hamilton, 2013). Furthermore, when Oldershaw, Hambrook, Tchanturia, Treasure and Schmidt (2010) compared Emotional Theory of Mind (eToM) in people currently ill with AN and those who had recovered, they found that whilst eToM was significantly better in the recovered group, they still displayed some difficulty in recognising emotion in others. This suggests that the dif- ficulty with emotion recognition experienced by people with AN is more likely to be a stable trait than to have arisen purely as a result of illness (though illness may indeed exacerbate this difficulty). Taken together with the aforementioned similar difficulties with emotion recognition observed in people with ASD, this could indicate a possible shared phenotype between the two disorders.
Even without regression, other monogenic causes of epileptic encephalopathy also lead to ASD symptoms around the same time as, or after, seizure onset. SCN2A is not always associated with regression. A 10-year-old boy with a de novo splice site SCN2A variant had a pres- entation of ID, intractable epilepsy, hypotonia, intermit- tent ataxia, and cerebral/cerebellar brain atrophy. He developed seizures at 3 years of age, around the same time as his diagnosis of “autism” . Out of six individ- uals with epileptic encephalopathies (early myoclonic en- cephalopathy, OS, and IS) due to SIK1 variants, three developed features of ASD in the context of experien- cing IS between 2–4 months of age . In some in- stances, autism features can emerge in the wake of plateaued development and seizure onset, as is the case with SCL35A2-related disorders . Overall, the data suggests that among these disorders, there could be a temporal relationship between seizure onset and ASD symptoms. However, the causative nature of this rela- tionship is not fully clear, and larger, carefully pheno- typed cohorts are necessary for further investigation. An alternative possibility is that in some cases, epileptic en- cephalopathy may indeed be contributing to emergence of ASD symptoms, while in others, epileptic encephalop- athy and ASD may be two separate outcomes resulting from final common disrupted pathways due to the underlying gene defect. This mechanistic heterogeneity might reflect the vast range of cellular pathways impli- cated in different monogenic epileptic encephalopathies.
Pyramidal neurons in Broca’s area, which function to help create connections throughout the prefrontal cortex, are consistently smaller in children with autism compared with control subjects , which would suggest a basic explanation for the communication deficits experienced by children with autism. Further fundamental differences in the neuronal architecture of the autistic brain can be observed. Along with a decrease in pyramidal neurons, ASD patients show an increase in the density of glial cells, or supportive cells with no neuronal function, as indicated by a microscopic examination of the cytoarchitecture of autistic brains . The dysfunction observed in Broca’s area of children with autism leads to a very prominent theory of the overall communication deficits experienced, called the Disconnection Theory .
skills and make the most of their strengths. Early intervention during the preschool years can help child learn critical social, communication, functional and behavioral skills. However, a range of specialist educational and behavioral programmes can help children with ASD. 55 It can be difficult to know which intervention will work best for child, because each person with ASD is affected differently. Some types of intervention can involve hours of intensive work, and this isn’t always possible for many families because of the practical, emotional and financial commitments necessary. 56 In general, higher IQs are correlated with greater responsiveness to treatment and improved treatment outcomes. Children with autismspectrumdisorder typically continue to learn and compensate for problems throughout life, but most will continue to require some level of support. Planning for child’s future opportunities, such as employment, college, living situation, independence and the services required for support can make this process. 57