Autism: Diagnosis, Intervention, and Social

Autism: Diagnosis, Intervention, And Social Adjustment

This literature review is a comprehensive introduction of autism to people with little or no specialized knowledge. The review, including a clear summary of existing knowledge on the condition, addresses the complexity of autism, assessing practical issues such as diagnosis, intervention, and social adjustment. In addition, it will examine how all research into autism should have the eventual goal of increasing the well-being and career development of those persons affected by the disorder. The results can provide parents, teachers, and clinical trainees with a heightened awareness, and prompt them to a possible reevaluation of the subject, since it neatly synthesizes historic and current findings on autism.

Thesis

As is the case for all serious illnesses and detrimental conditions, early diagnosis of autism is extremely important. The earlier that a child is diagnosed with the disorder, the earlier treatment and interventions can begin. and, in turn, the earlier treatment begins the better chance that a child will have to be able to live a "normal" life. There is currently no cure for autism, but recent research has clearly demonstrated that the earlier treatment begins the better the prognosis is for the child in terms of improving his or her ability to communicate with other people, to connect with them emotionally, and to succeed in activities like school. Until there is a clear etiology of the disorder and a cure for autism, the best possible strategy for caregivers of children with autism is to ensure that their children are screened at the earliest suggestion of the condition and, if diagnosed with autism, are treated with the most completely documented therapies.

Introduction

Early identification and diagnosis of young children with an autism spectrum disorder (ASD) can lead to earlier entry into intervention programs that support improved developmental outcomes. This has been found to be true regardless of where the child falls on the spectrum of ASD, from severely disabled by the condition to being only mildly affected. Without proper diagnosis and treatment, a child with autism will in general not see any relief from the condition on his or her own. "Autism is a highly variable neurodevelopmental disorder that first appears during infancy or childhood, and it generally follows a steady course without remission" (World Health Organization, F84, 2007).

There is controversy within the world of autism treatment about whether children can recover or grow out of the condition or if those who are initially diagnosed with autism and later assessed as not having it were have in fact recovered or if they were misdiagnosed to begin with. Scholars universally acknowledge that no cure is known" (Levy, Mandell, & Schultz, 2009; Sacks, 1995). However, "children recover occasionally, so that they lose their diagnosis of ASD; sometimes after intensive treatment and sometimes not" (Helt, Kelley, & Kinsbourne, 2008). Although core difficulties tend to persist, symptoms often become less severe with age. It is not known how often recovery happens, and few high-quality studies address long-term prognosis, thus making it impossible to form any empirically-based model for what conditions may be associated with recovery (Newschaffer, et al., 2009).

Autism has been recognized as a disorder for decades, although until the last decade or so it was not something that was well-known to the general public. In the late 1960s, researchers established that autism should be seen as a distinct by demonstrating that it is a unique type of developmental disorder. From the beginning, researchers have also demonstrated the benefits of involving parents ly in a range of therapeutic programs. While the condition must have existed before it was first formerly recognized, it seems to have been increasingly in incidence at a dramatic rate. It is impossible to know to what extent this increase in frequency is do to an actual increase in the number of children affected by the condition and to what extent it is the result of greater public awareness of autism.

Recent research generally place the frequency of autism at about 1 -- 2 children per 1,000 for autism 6 per 1,000 for ASD (Newschaffer, Croen, & Daniels, 2007). (the same researchers report that the reported rate for autism in the 1960s was about .5 per 1000.) However, there are inadequate data for researchers and medical professionals to be certain as to the actual frequency and so the true incidence may not much higher (Fombonne, 2009). "A real increase would suggest directing more attention toward changing environmental factors instead of continuing to focus on genetics" (Sapir, 2006). The reason for this assumption is that any aspect of health that changes as quickly as the incidence of autism has must be environmental since the environment can change this quickly but the human genome cannot. It is important to note, however, that there is fairly clearly some genetic element to the condition as identical twins are much more likely to share the condition than either fraternal twins or siblings (Ho, Todd, & Constantino, 2005).

Most children with autism lack social support, meaningful relationships, future employment opportunities or self-determination (Burgess & Gutstein, 2007). Their families are often detrimentally affected too -- beyond the emotional costs associated with caring for a child with disabilities. "Publicly supported programs are often inadequate or inappropriate for a given child, and unreimbursed out-of-pocket medical or therapy expenses are associated with likelihood of family financial problems," note Sharpe & Baker (2007). "One 2008 U.S. study found a 14% average loss of annual income in families of children with ASD, (Montes & Halterman, 2007) and a related study found that ASD is associated with higher probability that child care problems will greatly affect parental employment (Montes & Halterman, 2008). An in recent years, a number of U.S. states have shifted the cost of care for autism to parents by requiring private health insurance to cover autism services (Reinke, 2008). This has been highly problematic for families who lack insurance.

Although not the focus of this study, it is important to note that people with autism continue to require care after they reach adulthood, when key treatment issues include residential care, job training and placement, sexuality, social skills, and estate planning.

The purpose of the review is to investigate the diagnosis patterns of children who have been classified within the autistic spectrum disorder (ASD) on socio-demographic and psychosocial characteristics. The review assesses factors such as early detection, communication training, and social adjustment looking for potential qualitative and quantitative social implications.

Studies on the diagnosis of autism

There has in recent years been a substantial push (by everyone from physicians to daycare providers to public health agencies) to make parents aware of the initial symptoms of autism so that children can be diagnosed as early as possible and, if they are found to be autistic, that they receive treatment as young as possible. This section examines some of the recent research on diagnosis, taking into account both research that focuses on behavioral cues as well as that focused on looking for genetic or biological cues that lead to a diagnosis of autism.

Study I

Lathe (2009) investigated the relationship between Fragile X syndrome and autism. The condition, also called Martin Bell syndrome, is the result of a single error on the X chromosome that results in the non-expression of a gene that is necessary for normal neural development. The behavioral characteristics associated with Fragile X syndrome mirror those of autism. Moreover, about ten percent of children with autism have Fragile X syndrome, which is present in about 1 in 2000 males and 1 in 4000 to 6000 females in the general population.

The study is a review or meta-analysis of a dozen previous studies on the relationship between Fragile X syndrome and autism. Without a comprehensive review of the previous studies it is difficult to assess the rigor of the methodologies involved; however, all of the previous studies were published in peer-reviewed academic journals.

Lathe's hypothesis was that if Fragile X is indeed linked to autism, then as rates of autism rise the rate of Fragile X incidence within the autistic population will itself fall. His results confirm this hypothesis, supporting the idea that in at least some cases autism does seem to have a genetic component.

Study II

Macedoni-Luksic et al. (2009) also tested the connection between Fragile X syndrome and autism. Rather than looking at the genetic correlation per se, however, they investigated differences between two groups of children: Children with both Fragile X syndrome and autism and children with only Fragile X syndrome. Their hypothesis was that children with both conditions would do less well on non-meaningful imitation tasks than children with only Fragile X syndrome. Their reasoning was that since both conditions tend to create interference with such tasks that there would be a compounding effect when both conditions were present.

The researchers worked with twenty-eight children with FXS, aged 5 to 14 years, and asked them to perform a series of imitative acts, such as raising an eyebrow or putting one's hand in one's lap. The children were scored in terms of whether they imitated the action that had been modeled for them as well as for the presence of any "errors" -- the introduction of actions not in the modeled behavior. The results were then subjected to multivariate statistical analysis.

The researchers found, in contrast to previous similar research, that children with both conditions did not evidence any greater problems with either gross motor or fine motor skills but that they did make more "mistakes" in imitation and that they were subject to greater problems in maintaining their balance. They expected the children with both syndromes to have both increased motor control problems and greater errors in imitation. Thus their hypothesis was supported in part.

The diagnostic consequences for this finding are that children who have been diagnosed with Fragile X who show high error rates in imitation and problems in balancing should also be assessed for autism.

Study III

Zandt, Prior, & Kyrios (2009) assessed differences between children with obsessive compulsive disorder and those with autism spectrum disorder. Because both populations share some behaviors (a number of different types of repetitive behavior), there can be some diagnostic confusion. While generally children who exhibit such behaviors early in childhood are much more likely to have autism rather than OCD, some very young children do manifest symptoms of OCD. The researchers were primarily interested in the underlying cognitive processes of children with both of these disorders. Understanding these underlying processes has implications for both diagnosis and treatment.

The study involved 54 children and adolescents aged 7 to 16 years. They were divided into three groups: Children with OCD, children with autism, and children who showed normal development patterns. Children with a co-morbid disorder (such as Tourette's) were excluded. All of the children in the groups tested at normal or above intelligence. They were each given executive functioning tests that "were specifically designed for or had shown reliability and validity with paediatric populations, were suitable for the broad age range included in the study, allowed for the assessment of a range of executive function skills, and incorporated both summary and strategy scores."

The results of these tests had very low statistical significance. There was a slightly greater prevalence for children with ASD to perform more poorly on tasks that required a series of responses and a slightly greater prevalence for children with OCD to have problems with tasks that required inhibition.

It is important to remember that negative findings are as important as positive ones in science. The fact that tests for executive functioning are not good instruments for distinguishing between children with OCD and children with ASD is useful to know.

Study IV

Brian et al. (2008) focused on protocols for diagnosing autism in children at the age of 18 months, the lowest current limit of widely accepted tests. By looking for behavioral antecedents of autism in toddlers, they were seeking to find methods of reliably assessing children at the earliest possible age, thus allowing for even earlier treatment than is now available, which would (in turn) lead to a better prognosis.

The researchers assessed 155 toddlers who were considered to be at higher than average risk because they had a full sibling with autism. A control group contained 73 children with no family history of autism. The children were assessed using the Autism Diagnostic Observation Schedule (ADOS) and Autism Observation Scale for Infants (AOSI).

The researchers found that while there were small but significant differences between the control group and those children with a sibling with autism was that those working to diagnose small children should consider not only social interaction skills (which is what is now the primary focus) and should instead include this but also assess "basic dimensions of temperament."

The most important implications of this study is that current methods for diagnosis tend to focus too narrowly on communication skills.

Communication training

A large percentage of the interventions and therapeutic approaches to children with autism (as well as a substantial amount of the basic research) focuses on the ways in which autism limits people's ability to communicate with those around them and ways in which communication can be improved. People with autism tend to have difficulty not only in expressing themselves but also in understanding other people's expressions.

Study I

Chiang (2008) investigated whether there were any significant variations in communication limitations among different types of expression for children with autism or whether there were universal or blanket problems in communication. Which conditions was true has implications for treatment as well as possible implications for understanding the underlying mechanisms of the disorder.

He tested children in special schools for children with autism, self-contained special education classes, and general education classes to determine if the surrounding environment affected communication skills. He videotaped naturalistic observations on the children as they interacted with others and coded their conversations for levels of spontaneity.

He found that children's expressive spontaneity ranged along a continuum but that it also varied substantially by "forms, functions, activities, partners and consequences, and ...across the effectiveness of requesting and rejecting functions." The key importance of this finding is that because there are a range of speech difficulties in children with autism, it may be that differential therapeutic approaches are needed.

Study II

Stephens (2008) examines the ways in which children with autism are able to imitate another's actions as a means of investigating the ways in which they are limited (or not) in their communicative skills. While ability to communicate through speech is perhaps the most obvious form of communication, imitation is also one of the ways in which people, and especially children, communicate with those around them.

Stephens asked preschool children with autism to imitate a range of tasks, including speaking and dancing. She performed pretests on the children to determine their base imitative ability. She then had them imitate an action and then imitated it back to them. She then retested them on imitative abilities.

She found that the children performed significantly better on imitative tasks after they themselves had been imitated, suggesting that imitation may be an important way for children with autism to connect with and communicate with those around them.

Study III

Wright et al. (2008) examined the ability of children with autism and those without ASD to examine faces and to determine what the expression on each face was. The researchers also asked children to guess the occupation of the person pictured through the presence of visual clues in the picture. Children with ASD are generally considered to be poor at recognizing expressions, one of the attributes of the disorder that makes it difficult for them to communicate with others. However, there has not been a significant amount of research done to determine to what degree children with different levels of symptomology are limited in their ability to assess expression.

The researchers focused on children from 7 to 17 who had high-functioning autism and matched each child with another of the same age, sex, and IQ who did not have ASD. The children were tested on faces presented without any other visual cues and then on faces in which there were visual cues about the person's occupation and emotional state. The researchers performed statistical tests to determine if there were significant differences between the children with ASD and those without and between the two different tests.

The researchers found that there was no significant difference between the children with ASD and those without in terms of their ability to recognize emotions or professions, although accuracy in the latter test improved with both increasing age and IQ for both groups. They did have an unexpected finding: Children with ASD generally imitated the expression that they saw on the test cards while those without ASD never did so.

Like the above study, this study suggests that including imitative elements in various configurations is an important therapeutic strategy for children with ASD and that different ways of including innovative methods of imitation should be developed and included. It also suggests that recognition of expressions may be less of a problem for those with fewer ASD symptoms than had been thought before.

Study IV

Heaton et al. (2008) examined an area of competency in which about ten percent of individuals with autism perform significantly better than the average population. This study is thus one of a very few that focuses primarily on a strength rather than on a weakness of those with autism. Previous research has shown that this decile of the autistic population has better than good pitch recognition.

Heaton and her colleagues tested 21 intellectually high-functioning (IQ > 70) and 12 intellectually low-functioning (IQ < 70) people with autism. Their ages ranged between 11 years 6 months and 19 years. They were tested (using visual computer graphics that were correlated with musical tones) for both pitch-to-pitch distinctions and pitch recall.

Heaton et al. found that a group of individuals with autism "achieved performance scores that were between four and five standard deviations above the mean for the groups." This was especially noteworthy given that "unlike comparison participants, their performance appeared to be independent of intelligence, musical training and experience. Heaton et al. noted that these individuals may have genetic similarities to each other, something that had been found in previous research.

The therapeutic implications for this finding are impressive, for it suggests that adding pitch components to speech therapy may be able to improve comprehension as well as speech. The finding is so dramatic in terms of its statistical significance that it provides substantial hope for new therapies.

Social adjustments

Along with problems in communication -- and clearly linked to it -- are problems that children with ASD have with social interactions. While clearly it is more difficult to interact with others if one cannot easily communicate with them or be able to understand their communications back to one, there are other aspects of ASD that appear to interfere with the ability of individuals with the disorder to be able to participate in the kinds of social activities that others take for granted. Therapeutic interventions that help children with autism to be able to be more competent in social terms as well as to take pleasure in social activities substantially improve their quality of life.

Study I

Vismara, Colombi, & Rogers (2009) summarize the social interaction problems that are such a central concern with autism: "Deficits in attention, communication, imitation, and play skills reduce opportunities for children with autism to learn from natural interactive experiences that occur throughout the day." Thus ant remediation for such deficits can substantially improve the lives of these children, who are already showing significan, impairment in these areas by the time that they are toddlers. These deficits become a negative feedback loop: Children who lack social interaction skills are rejected by their peers, which deprives them of the opportunity to learn and practice social skills, which means that they are even more likely to be rejected by their peers, and so on. The researchers thus strongly support the teaching of social skills, while recognizing that such a therapeutic approach can be very expensive for families.