Autism is a developmental disorder that originates prior to birth or in early infancy. Although there are many reasons to believe that autism is a neurobiological disorder with a strong genetic component, a biological marker is yet to be found, Consequently, the syndrome must be defined on the basis of observed behaviors. Autism is often described as being the diagnosis of absence. That is, it is all about what the child does not do. He does not make eye contact, does not reciprocate, does not speak, does not respond to his name, does not pretend play, etc. For instance, according to the National Institutes of Health, "no babbling or pointing by age 1" is a possible symptom of autism.
Parents have much greater knowledge of their child than anyone else. Research, however, indicates that although parents are excellent sources of information, they may not interpret what they see as would an autism expert. In fact, when parents are asked about the child's eye contact, they many not report that they have not noticed anything. Therefore, given the lack of clear association between autism and a specific neurobiological marker, the real question is "why would a diagnosis of autism be important"? The answer to that question is that establishing standard diagnostic criteria will yield crucial information about the interventions that must be put in place to help the developmental trajectory of the children who are affected. To call a spade a spade, a diagnosis is the road to services.
When people talk about tests for autism, they are usually referring to an autism checklist that can be used to screen toddlers, and not any kind of blood test. Common checklists include the:
Autism Diagnostic Observation Schedule (ADOS) - Catherine Lord, Ph.D., Michael Rutter, M.D., F.R.S., Pamela DiLavore, Ph.D., and Susan Risi, Ph.D.
The Autism Diagnostic Observation Schedule (ADOS: WPS Version; Lord, Rutter, DiLavore, Risi, 1999) is a standardized observation designed to assess behaviors related to autism or autistic spectrum disorders (see also Lord et al., 2000). Previous versions of the ADOS (Lord, Rutter, & Goode, 1989) and the Pre-Linguistic Autism Diagnostic Observation Schedule (PL-ADOS: DiLavore, Lord, & Rutter, 1995) have been combined into this single instrument.
The ADOS is a semi-structured, standardized assessment of communication, social interaction, and play or imaginative use of materials for individuals who have been referred because of possible autism or an autistic spectrum disorders. The ADOS can be used to evaluate individuals at different developmental levels and chronological ages, from toddlers to adults, from individuals with no speech to those who are verbally fluent.
The goal of the ADOS is to provide standardized information concerning the diagnosis of autism in the areas of social behavior, use of vocalizations/speech and gesture in social situations, and play and interests. Structured activities and materials provide standard contexts in which social interactions, communication, and other behaviors relevant to autistic spectrum disorders are observed. Inter-rater and test-retest reliability, as well as internal validity, have been demonstrated for the ADOS. The ADOS and its previous versions, including the PL-ADOS and ADOS-G, have been widely used in research and in academic centers.
Autism Diagnostic Interview - R
The Autism Diagnostic Interview-Revised is a semi-structured, investigator-based interview for caregivers of children and adults for whom autism is a possible diagnosis. Two studies (Lord, Rutter, LeCouteur, 1994; Lord, Storoschuk, Rutter, Pickles, 1993) were conducted to assess the psychometric properties if the ADI-R. Reliability was tested among 10 children with autism (mean age 48.9 months) and 10 cognitively or language impaired children (mean age 50.1 months), and validity was tested among an additional 15 children with autism and 15 neuro-typical sage aged children. Results indicated that the ADI-R was a reliable and valid instrument for diagnosing autism in preschool children. Inter-reliability and internal consistency were good, and inter-class correlations were very high.
A standard diagnostic interview is conducted at home or in a clinic. The ADI-R is considered by some professionals in the filed as a measure of high diagnostic accuracy. It takes several hours to administer and score it. The ADI-R is recognized as one of the better standardized instruments currently available for establishing a diagnosis of autism. It is a semi-structured interview administered to subjects' caregivers which determines whether or not an individual meets the Diagnostic and Statistical Manual of Mental Disorders (5th ed., revised). The criteria for autism here below.
The Childhood Autism Rating Scale
The Childhoold Autism Rating Scale (CARS) was developed by the Treatment and Education of Autistic and Related Communication Handicapped Children (TEACCH) program in north Carolina to formalize observations of the child's behavior throughout the day. This 15-item behavior rating scale helps to identify children with autism and to distinguish them from developmentally disabled children. Brief, convenient and suitable for use with any child older than 2 years of age, the CARS makes it much easier for clinicians and educators to recognize and classify children who present with a possible autism phenotype. Developed over a period of 15 years, it includes items drawn from five prominent systems for diagnosing autism. Each item covers a particular characteristic, ability, or behavior. After observing the child and examining relevant information from parent reports and other records, the examiner rates the child on each item. Using a seven-point scales the examiner indicates the degree to which the child's behavior deviates from that of a typically developing child.
The Checklist for Autism in Toddlers
The Checklist for Autism in Toddlers (CHAT) is a screening instrument designed to detect core autistic features to enable treatment as early as 18 months. The most effective treatment currently available for autism is Early Intervention that is provided from local school districts. However, many children under age 3 do not have access to these services because school districts do not evaluate children under age 3. CHAT offers physicians a means of diagnosing autism in infancy so that educational programs can be started months or even years before most symptoms become obvious. The CHAT should not be used as a diagnostic tool but only as a way to alert primary health professionals to the need for referral to an expert.
Autism Spectrum Disorder (DSM-V)
Persistent deficits in social communication and social interaction across multiple contexts, as manifested by the following, currently or by history (examples are illustrative, not exhaustive; see text):
Deficits in social-emotional reciprocity, ranging, for example, from abnormal social approach and failure of normal back-and-forth conversation; to reduced sharing of interests, emotions, or affect; to failure to initiate or respond to social interactions.
Deficits in nonverbal communicative behaviors used for social interaction, ranging, for example, from poorly integrated verbal and nonverbal communication; to abnormalities in eye contact and body language or deficits in understanding and use of gestures; to a total lack of facial expressions and nonverbal communication.
Deficits in developing, maintaining, and understanding relationships, ranging, for example, from difficulties adjusting behavior to suit various social contexts; to difficulties in sharing imaginative play or in making friends; to absence of interest in peers.
Specify current severity:
Severity is based on social communication impairments and restricted, repetitive patterns of behavior.
Restricted, repetitive patterns of behavior, interests, or activities, as manifested by at least two of the following, currently or by history (examples are illustrative, not exhaustive; see text):
Stereotyped or repetitive motor movements, use of objects, or speech (e.g., simple motor stereotypies, lining up toys or flipping objects, echolalia, idiosyncratic phrases).
Insistence on sameness, inflexible adherence to routines, or ritualized patterns of verbal or nonverbal behavior (e.g., extreme distress at small changes, difficulties with transitions, rigid thinking patterns, greeting rituals, need to take same route or eat same food every day).
Highly restricted, fixated interests that are abnormal in intensity or focus (e.g., strong attachment to or preoccupation with unusual objects, excessively circumscribed or perseverative interests).
Hyper- or hypo-reactivity to sensory input or unusual interest in sensory aspects of the environment (e.g., apparent indifference to pain/temperature, adverse response to specific sounds or textures, excessive smelling or touching of objects, visual fascination with lights or movement).
Specify current severity:
Severity is based on social communication impairments and restricted, repetitive patterns of behavior.
Symptoms must be present in the early developmental period (but may not become fully manifest until social demands exceed limited capacities, or may be masked by learned strategies in later life).
Symptoms cause clinically significant impairment in social, occupational, or other important areas of current functioning.
These disturbances are not better explained by intellectual disability (intellectual developmental disorder) or global developmental delay. Intellectual disability and autism spectrum disorder frequently co-occur; to make comorbid diagnoses of autism spectrum disorder and intellectual disability, social communication should be below that expected for general developmental level.
Note: Individuals with a well-established DSM-IV diagnosis of autistic disorder, Asperger’s disorder, or pervasive developmental disorder not otherwise specified should be given the diagnosis of autism spectrum disorder. Individuals who have marked deficits in social communication, but whose symptoms do not otherwise meet criteria for autism spectrum disorder, should be evaluated for social (pragmatic) communication disorder.
With or without accompanying intellectual impairment
With or without accompanying language impairment
Associated with a known medical or genetic condition or environmental factor (Coding note: Use additional code to identify the associated medical or genetic condition.)
Associated with another neurodevelopmental, mental, or behavioral disorder (Coding note: Use additional code[s] to identify the associated neurodevelopmental, mental, or behavioral disorder[s].)
With catatonia (refer to the criteria for catatonia associated with another mental disorder, pp. 119–120, for definition) (Coding note: Use additional code 293.89 [F06.1] catatonia associated with autism spectrum disorder to indicate the presence of the comorbid catatonia.)
Jordan is a healthy, active two-year-old, but his parents are concerned because he doesn't seem to be doing the same things that his older sister did at this age. He is not really talking, yet; although sometimes, he repeats, over and over, words that he hears others say. He doesn't use words to communicate, though. It seems he just enjoys the sounds of them. Jordan spends a lot of time playing by himself. He has a few favorite toys, mostly cars, or anything with wheels on it! And sometimes, he spins himself around as fast as he does the wheels on his cars. Jordan's parents are really concerned, as he started throwing a tantrum whenever his routine has the smallest change. More and more, his parents feel stressed, not knowing what might trigger Jordan's next bout.
Often, it seems Jordan doesn't notice or care if his family or anyone else is around. His parents just don?t know how to reach their little boy, who seems so rigid and far too set in his ways for his tender young age. After talking with their family doctor, Jordan's parents call the Early Intervention office in their community and make an appointment to have Jordan evaluated.
When the time comes, Jordan is seen by several professionals who play with him, watch him, and ask his parents a lot of questions. When they?re all done, Jordan is diagnosed with a form of autism. As painful as this is for his parents to learn, the early intervention staff try to encourage them. By getting an early diagnosis and beginning treatment, Jordan has the best chance to grow and develop. Of course, there is a long road ahead, but his parents take comfort in knowing that they are not alone and they are getting Jordan the help he needs.
I hear a lot about joint attention, why is it so important? Joint attention is described as the ability to coordinate attention between people and objects (Loveland & Landry, 1986) or as an attention state during which a child and a partner share an interest or affect (Adamson & Chance, 1998). Joint attention is divided into what is called RJA (Responding to joint attention) and IJA (initiating joint attention).RJA is the child?s ability to follow direction of someone's gaze or point. It is when the child looks at what mom is looking at. It is also the nonverbal instance when he throws the spoon of the floor and looks at mom and at the spoon alternatively to signal mom to pick up the spoon.Typically developing children achieve this by the time they are 3 months old.
Children with autism, on the other hand, demonstrate deficits in joint attention early in development. They do not look at what others look at.They do not move their eye gaze in the direction of speech, nor do they look at what others point to. As a result, they don't learn on their own and need to be taught directly. Language development is dependent upon joint attention. In early word learning, children are confronted with what we call "infinite possibilities" when hearing a word for the first time. That is, they must determine what the person who is saying the new word is referring to. For instance, if mom says "look at the dog" and the child has never heard the word "dog" before,he first needs to narrow down the field of infinite possibilities (among all other objects that are nearby) to be able to guess what mom is referring to. In order to do that he looks at his mother, follows her gaze to the object she is referring to, to infer what she means by "dog". This is how a child learns his vocabulary. Children on the autism spectrum do not look at what others are looking at, thus their language development is greatly compromised.