Autism Spectrum Disorder: Keys to Early Diagnosis in Children

Introduction to Autism Spectrum Disorder

Autism is a spectrum disorder, characterized as such for the broad array of symptoms and developmental possibilities reflected in those who are affected by it. At its core, autism is defined by a "qualitative impairment in social interaction," which may result in severe impairment across any combination of conditions — including notable deficits in nonverbal communication and posturing, an incapacity to develop meaningful personal relationships, an apparent disinterest in forming relationships or engaging collaboratively with others, and a distinct absence in the expression of emotional attachment (ANI, 2002). More specifically, "autism is diagnosed on the basis of abnormalities in the areas of social development, communicative development, and imagination, together with marked repetitive or obsessional behaviour or unusual, narrow interests" (Baron-Cohen, 2000).

This literature review's primary interest in autistic children between birth and the age of six is based on the presumption that many sufferers are denied the full opportunity for support and assistance because diagnosis — and a full understanding of the spectrum disorder — can be elusive. Children who may be perceived as developmentally delayed, or who suffer from social difficulties that go unnoticed by parents or guardians, may exhibit early symptoms of autism. However, many such symptoms are often missed due to the complexity of the condition and the very wide array of forms and symptom sets that autism may take. The literature reviewed here is therefore primarily concerned with identifying the clearest characteristics of the autism spectrum disorder, so that parents and early-education teachers can begin to recognize those affected and, consequently, establish the appropriate course of treatment, therapy, and education for the individual.

The primary purpose of this examination is to provide a basic outline of the range of symptoms by which autism may be identified at the youngest possible age, in order to ensure the best opportunity for treatment. All sources consulted were selected with the intent of clarifying the variance of possible manifestations and diagnostic clues that can indicate the presence of an autism spectrum condition.

Core Diagnostic Criteria and Symptom Clusters

In addition to some combination of the social impairments noted above, a person classified as having autism will also experience a distinctly debilitating impairment in communicational development. This may be manifested in a "delay in, or total lack of, the development of spoken language" and may even be distinguished by an incapacity to use pantomime or relevant gestures to communicate thoughts and ideas (ANI, 2002). Other common forms of linguistic impairment that may contribute to an autism classification include an inability in those with speech to engage in or maintain conversation with others, inane use of repetitive or idiosyncratic language, and an apparent absence of the capacity to engage in creative or socially spontaneous use of developed communication tools (ANI, 2002). Parents of children who exhibit a delay in responsiveness to spoken language, or whose initial communication lacks the nuance of genuine expression — such as personal connectivity or emotional display — may have cause for concern.

Another diagnostic criterion, in addition to impaired social and linguistic ability, is some form of obsessive-compulsive personality, relating most often to repetitive behaviors within a limited and patterned context. Autistic individuals may demonstrate an abnormal preoccupation with a specific object or activity, evidenced by some combination of conditions. Among these, the individual may show "an encompassing preoccupation with one or more stereotyped and restricted patterns of interest that is abnormal either in intensity or focus" (ANI, 2002). Other commonly associated conditions include a rigid and ritualized engagement with specialized objects related to the preoccupation, a potentially obsessive disturbance regarding the performance of such ritual use, the repetitive display of certain physical actions seemingly unrelated to the effective engagement of fixated objects, and a "persistent preoccupation with parts of objects" (ANI, 2002).

In general, these conditions combine to create a debilitating array of disorders that impact the individual's life and most often prevent the individual from achieving independence or success in forming personal relationships. Signs of these propensities serve as a warning that developmental issues may be preventing the child from pursuing normal education or socialization. Still, the autism spectrum is referred to as such because it encompasses an array of different possible forms, which makes the already pressing challenge of identifying its presence early even more complex. Certain variations of the condition that are less severe — and therefore often less immediately detectable — may nonetheless be extremely debilitating if not diagnosed and treated.

According to the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV), through which the American Psychiatric Association publishes currently accepted terms for identifying and referencing specific disorders, autism is identified as a pervasive developmental disorder — placed in the same category as Rett's Disorder and Asperger's Syndrome. The DSM-IV sets out the series of conditions for identifying and diagnosing the variant conditions of Autism Spectrum Disorder (ASD) according to the functional capacities of the individual. Under the general heading of ASD, there is a wide array of symptoms that need not all apply to a given individual in order for that individual to be characterized as having autism.

Central to this discussion is Asperger's Syndrome, which describes possession of a host of symptoms related to the Autism Spectrum Disorder but is often distinguished from classic autism by higher levels of awareness, functionality, and linguistic development. According to Klin et al. (2000), "Asperger Syndrome (AS) is a serious and chronic neurodevelopmental disorder which is presently defined by social deficits of the type seen in autism, restricted interests as in autism, but, in contrast to autism, relative preservation of language and cognitive abilities" (p. 25). This also prompts consideration of High Functioning Autism (HFA), which some researchers consider directly synonymous with Asperger's Syndrome. This is a pertinent view, as autism sufferers with higher developmental opportunities and a greater capacity for linguistic development will often find greater opportunity to engage compensatory talents.

Asperger's Syndrome and High Functioning Autism

The distinction between autism and Asperger's Syndrome is significant, making diagnosis or differentiation for either more challenging. Individuals most often classified in the latter category are typically so classified in accordance with their relatively high level of functional development, despite the presence of the cognitive differences affiliated with the autism disorder. It can be generally stated that "if an individual meets all of the criteria for HFA except communicative abnormality/history of language delay, they are said to have Asperger's Syndrome (AS)" (Baron-Cohen, 2000). According to this definition, Asperger's Syndrome is a disorder particularly notable for the social, emotional, and communicational qualities it shares with autism — including social delays and disorientation toward the development of normal emotional interaction with others. These are useful triggers in at least recognizing that some aspect of the child's development is impaired and will require special attention in education and therapy.

There are also other commonalities with autism that are more specific and therefore more diagnostically compelling. For instance, in Asperger's Syndrome, "the individual exhibits an unusually intense, circumscribed interest, or restricted, repetitive, and stereotyped patterns of behaviour, interests, and activities" (Klin et al., 2000, p. 26). It is differentiated from autism, however, in that this obsessive attention to a specific subject matter or object need not necessarily be correlated with repetitive motions or "preoccupations with part objects or nonfunctional elements of play materials" (Klin et al., 2000, p. 26). Nonetheless, the abnormal and limiting formulation of a specialized interest demonstrates a commonality in object orientation with that commonly displayed by autistic individuals. Such commonalities cause some researchers to question the rationale for distinguishing Asperger's from autism, arguing instead that, as High Functioning Autism, Asperger's is merely one category of the broader disorder. Indeed, some perspectives divide autism sufferers into categories of High Function (HFA), Medium Function (MFA), and Low Function (LF), generally defined by IQ levels that tend to correlate positively with the abilities of autism sufferers (Kutscher, 2006). Diagnosis is often hardest to accept in children who early on exhibit a certain precociousness or intense fixation in distinct subject areas, as these characteristics can be mistaken for simple aptitudes.

It is, in fact, a mistake to assume that mental deficiency is a necessary condition of autism. Where IQ is concerned, variation suggests otherwise. As noted in the research, "individuals with autism may have an IQ at any level. By convention, if an individual with autism has an IQ in the normal range (or above), they are said to have 'high-functioning autism' (HFA)" (Baron-Cohen, 2000). For a parent with a young child who exhibits signs of genuine intelligence or prominent and unique talents, accepting an autism diagnosis can be especially difficult.

This leads us to consider a question that remains up for ongoing debate in diagnosis and treatment perspectives. Namely, it is argued that the term disorder is improperly applied to those with symptoms of autism who might otherwise display the capacity for healthy and full development as individuals. One article reviewed here "considers whether Asperger Syndrome (AS) or high-functioning autism (HFA) necessarily lead to disability or whether AS/HFA simply lead to 'difference'. It concludes that the term 'difference' in relation to AS/HFA is a more neutral, value-free, and fairer description than terms such as 'impairment', 'deficiency' or 'disability'; that the term 'disability' only applies to the lower functioning cases of autism; but that the term 'disability' may need to be retained for AS/HFA as long as the legal framework only provides financial and other support for individuals with a disability" (Baron-Cohen, 2000). This suggests that balance is required in understanding Asperger's Syndrome and High Functioning Autism, which may subject individuals to unique perceptual challenges but which may not appropriately be understood as disorders in every case. It further suggests that autism and its related conditions occur in too great a variety of symptomatic forms to be deconstructed effectively along such a distinction.

This type of debate, however, only further complicates the already difficult task of identifying the presence or absence of the condition in young potential subjects.

Conclusion: The Importance of Early Diagnosis

The study conducted here reinforces the initial presumption that there are core complexities in diagnosing the presence of autism because it is a spectrum disorder. This means that its manifestation might take on any number of the symptoms described above, that the degree of its severity is likely to vary widely, and that the nature of the treatment and therapy to be prescribed will vary considerably as well. The findings indicate that diagnosis in sufferers from birth to age six will depend heavily on the familiarity that parents or guardians have developed with the potential symptoms of autism.