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The diagnosis of autism spectrum disorders (ASD) is a two-step process: a developmental surveillance and screening that begins at infancy with the child’s primary care provider. In screening for autism spectrum disorders developmental surveillance is the routine monitoring and tracking of specific developmental milestones at well-child visits. This includes the gathering of information through reliable standardized instruments combined with parent and professional observations and tracking developmental progress, compared with children of similar age. All professionals responsible for the care of the child should perform routine developmental surveillance to identify children with atypical development.

Autism Spectrum Disorders and Evaluation

Early detection of autism spectrum disorders has increased public awareness and has focus more attention on this class of developmental disorders. It has been clearly demonstrated that autism spectrum disorders are identifiable and relatively stable in very young children. For the identification and risk factors of autism spectrum disorders specific tests are used during the evaluation. By screening children early from birth through age 5 for autism, helps to identify those children most at risk of developing an autism spectrum disorder and/ or developmental delay.

Autism spectrum disorders have shown difficult to reliably detect before the age of 3. In part, this is due to lack of awareness of health care providers about the presentation of autism spectrum disorders in young children (including their more limited skill development, particularly in language, cognitive, social behaviors). For example, it would be difficult to judge developmental deviation in peer relationships in children of 18 months, an age at which these skills would not be expected to have developed.

Identifying Autism Spectrum Disorders Before Age 2

Children with autism spectrum disorders are now being identified before the age of 2 years old thanks to advancements in the autism diagnosis process. It has been demonstrated that autism can be reliably diagnosed by an experienced clinician between the ages of 24 and 30 months. Since early intervention services are dependent upon early detection and formal diagnosis, it is imperative that young children be screened for autism, identified as being at risk and referred for comprehensive evaluation and assessment in an efficient and timely manner.

Children with autism spectrum disorders consistently seem to demonstrate deficits in social-cognitive and social-communicative behaviors early in life. Recently, researchers have begun to focus on the developmental direction of communication, language and social development in the first two years of life. These include failures of joint attention, nonverbal and pre-verbal communication, social reciprocity, affective understanding and imitation.

The majority of children on the autism spectrum present autistic behaviors during the first two years of life. Parents of children with autism noted several features that were markedly deficient in their child during the first two years of life. These included: poor eye contact and poor coordination of eye gaze with vocalization or gesture, no pointing to or showing of objects and an inability to follow another’s focus of attention through eye gaze or gesture. Autistic children have also displayed less pre-verbal babbling and no reciprocity in vocalizing and imitation. They also attended less to voice and had difficulty understand and using nonverbal gestures.

Detection of autism spectrum disorders in young children with developmental and behavioral problems can be difficult due to the variety of disorders and their symptoms at different ages. This is particularly apparent in young children on the autism spectrum whose communicative and social difficulties are often poorly understood and are therefore frequently attributed to normal variations in typical development. Many studies have demonstrated that early detection of autism and early therapeutic intervention are associated with the best developmental, behavioral and adaptive outcomes.

Early Diagnosis Of Autism Spectrum Disorders

Parents of children with autism spectrum disorders have expressed concerns regarding their child’s development before 18 months of age. Until recently, a considerable gap existed between the time parents first reported concerns and the time frame of referral and an autism diagnosis. A lengthy referral and diagnostic process contributes to considerable parental anxiety, places unneeded stress on parents and families and wastes valuable intervention time. Research has supported the notion of parental accuracy with regard to developmental concerns with their child. With the documented efficacy of early intervention in achieving optimal outcomes for young children with autism and their families, it is imperative that all concerns be taken seriously and addressed appropriately.

Parents’ concerns about autism spectrum disorders and their child’s development and behaviors should be discussed at every health care provider appointments, including well and ill child visits. There are some noteworthy sings, or “red flags,” of autism exist that can help identify children at risk for developmental delay and/or autism within a routine office or other health facility visit. These indicators typically are tracked through routine developmental surveillance procedures, which should occur at all well-child visits. The most powerful indicators of autism is the degree of language development. Any child not using single words by 16 months of age or some two-word phrases by 2 years of age should be further evaluated. Children who do not use gesture (i.e., pointing, waving, etc) or who cannot follow nonverbal communication by 12 months should also be referred. Finally, any loss of skills at any age is a serious red flag and warrants immediate referral to an appropriate diagnostic team.

Autism Spectrum Disorders and Developmental Concerns

Autism spectrum disorders and development concerns are generally discussed with primary care providers they are the first source parents with concerns and questions regarding their child’s development seek. Parents expect their pediatricians and family physicians to offer guidance regarding developmental issues; if no help is forthcoming, these parents may turn to other sources.

Studies have shown children with autism spectrum disorders and developmental delays, have been examined by primary physicians and some physicians will wait to see if the delays will resolve spontaneously. They may be unaware of the degree of accuracy often associated with parental concerns regarding their child’s development. While a small number of children do “catch up” without formal intervention and achieve developmental milestones somewhat later than same-age peers, this is the exception. A significant number of children require early intervention either on a temporary or ongoing basis to function within their family and community environment.

Children suspected of having an autism spectrum disorder are being referred for evaluation regarding concerns at earlier ages. Although many trained professionals are able to make a definitive diagnosis at a young age, the stability of diagnosis within the autism spectrum may fluctuate. This is often the case with children who are very young (2 years and under) and for those at extreme ends of the spectrum. It is not uncommon for a child to meet diagnostic criteria for autism spectrum disorder at age 2 and then be described at age 3 or 4 as PDD-NOS. Autism symptoms and behaviors may change considerably with intervention, particularly as language and social skills progress. Because symptoms change over time, a young child with an early diagnosis of autism should be reexamined at least annually to confirm the diagnosis and plan treatment.

Autism Spectrum Specific Domains

In diagnosing autism spectrum disorders developmental and behavioral history of the child and current functioning are important. Developmental information such as developmental milestones, motor skills, eating and sleeping patterns etc. are critical in the evaluation process.

Specific autism spectrum diagnosis criteria:

∙        First concerns about the child’s development.

∙        Characteristics of the child's temperament.

∙        Social-emotional milestones. This includes engagement in typical early childhood games (pat-a-cake, peek-a-boo), eye contact during feeding and games, shared attention, greetings and similar significant events. It is sometimes helpful to provide a reference point (i.e., first birthday) to aid with recall.

∙        Sensory abnormalities. It is important for the clinician to provide examples to help discriminate atypical patterns from typical development patterns. For example, arm flapping and jumping are common in many pre-verbal children. For example, children respond to exciting stimuli such as the currently poplar children’s characters, Barney and Elmo.

∙        Feeding and sleep problems or patterns.

∙        Fine and gross motor development and milestones.

∙        Atypical interests and activities.

∙        Interest in other children and/or siblings.

∙        Patterns of attachment to care givers.

∙        Ability to use nonverbal communicative means such as gesture and facial expression.

∙        Communication, including both verbal and nonverbal intent.

∙        Preferred activities and play.

∙        Other notable autistic symptoms such as loss of skills or deterioration of behavior