Simplified diagnostic criteria and more awareness are helping both parents and doctors identify autism at an earlier age
By Mark Moncino, M.D.
Autism Spectrum Disorder (ASD), previously termed autism, Aspergerâ€™s Syndrome, and PDD-NOS, is a common, heterogeneous, treatable â€“ and potentially curable â€“ cause of developmental disability. ASD is a spectrum of neurobehavioral disorders with manifested symptoms in an individual child that are quite unique, prompting the oft-quoted â€œIf you have seen a child with ASD, you have seen ONE child with ASD.â€
With the publication of the Diagnostic and Statistical Manual of Mental Disorders-5 (DSM-5), the diagnostic criteria have been simplified. DSM-5 now emphasizes the two fundamental neurobehavioral problems common to all children with ASD:
1) Deficits in social-communication efforts, and
2) Dysfunctional behaviors that include:
a] Stereotypic and repetitive motor or verbal behaviors,
b] Rigid routines or ritualized patterns of behavior,
c] Restricted or fixed interest and
d] Widespread sensory sensitivities, acknowledged for the first time by DSM-5
Over the last 40 years, the number of children with an ASD diagnosis has exploded. Until the 1980s, ASD was thought to be rare, affecting approximately 1 in 2,000 children and only diagnosed in those with profound deficits. Now, the 2014 CDC data shows that 1 in 64 of Georgiaâ€™s children (1 in 39 boys and 1 in 181 girls) are diagnosed with ASD. Of note, CDC data shows the picture of ASD is changing, with almost half of all children identified with ASD having average or above average intelligence.
No etiologic agent has been identified as the cause of ASD, although genetics play a role, as do a host of other associations. One thing we know for certain is that vaccines do NOT cause ASD.
A significant factor is an increase in diagnostic substitution. Historically, many of these children were considered intellectually disabled or received no diagnosis. Incidentally, this increase has been associated with the establishment of access to school services, with the passage of The Education For All Handicapped Children Act (PL 94-142) in 1974; the forerunner to the Individuals With Disabilities Education Improvement Act of 2004.
ASD is four times more common in males than females but is not X-linked. We know the concordance rate in identical twins is high (36-95 percent) but not 100 percent. In fraternal twins the risk is elevated, as is the risk if parents have a previously affected child (2-18 percent risk). While research studies show there are 300 to 500 gene associations, thus the postulated reason for the wide variation in symptoms, no single gene has been associated with more than a tiny fraction of cases (< 1 percent). ASD tends to occur more often in people with certain genetic conditions, with about 10 percent of ASD children having Down syndrome, Fragile X syndrome or Tuberous Sclerosis.
The American Academy of Pediatrics recommends screening children for general development using standardized, validated tools at 9, 18 and 24 or 30 months; and for ASD at 18 and 24 months, or whenever a parent or clinician has a concern. Despite this, CDC data shows that the average age of diagnosis of ASD in Georgiaâ€™s children is 4 years 5 months of age, although children can be reliably diagnosed as early as age 24 months of age (and possibly younger).
The variation in symptoms can be profound. Some children are nonverbal with virtually absent social skills, self-injurious behaviors and severe sensory disorders. Others may have reasonably good expressive language but impaired social skills, weak perspective taking abilities, repetitive behaviors or interests, or sensory problems. Regardless of severity, all children with ASD demonstrate weakness in social skills, which are fundamentally interrelated to communication and essential for integration in the community.
Consider ASD as a social learning disability created by a lack of connectedness with other individuals. Children with ASD do not spontaneously learn that words have meaning, and thus their communication and language is delayed. They have severe deficits in non-verbal communication â€“ pointing, waving and nodding â€“ and they do not understand that gestures (such as waving) are a way of communicating. The delay in gesture use is one of the earliest signs of ASD that may bring the child to medical attention, even if parents miss the deficit in social connectedness.
A lack of symbolic gesture use extends to the child’s lack of pretend play.Â A block is a block, and while a child with ASD may pound blocks together or stack them, he never uses the block as a creative tool â€“ it never becomes a car or train or an airplane; it is always a block.
Some of the most difficult problems that parents face are the rigid, inflexible behaviors exhibited by their children with ASD. Relatively simple acts, like cleaning up toys, using a different cup or sitting in a different position at the dinner table, can lead to tantrums of monumental proportions. These tantrums can be triggered by minimal changes in routine, such as a change in the placement of food on a plate, or being required to wear a different colored shirt, as opposed to the childâ€™s favorite striped shirt. As so many children with ASD are nonverbal, or of limited verbal ability, it leaves parents guessing as to what led to this most recent tantrum.
As children with ASD age, sensory issues related to touch, sound, lights, smells and tastes can be severe and life altering. Consider how difficult it is for a new mother to have their infant or toddler pull away crying from her, with the mother not realizing that the hug she was trying to give her child was distressful.
So what can parents do? The key is not accepting early delays in language because “he’s a boy” or “grandpa didn’t speak until he was 2.â€ Be aware of these seven red flags:
- By 6 months: No big smiles or other warm, joyful expressions
- By 9 months: No back-and-forth sharing of sounds, smiles or other facial expressions
- By 12 months: Lack of response to name
- By 12 months:Â No babbling or â€œbaby talkâ€
- By 12 months: No back-and-forth gestures, such as pointing, showing, reaching or waving
- By 16 months: No spoken words
- By 24 months: No meaningful two-word phrases that donâ€™t involve imitating or repeating
Thanks to media attention and parental education about ASD, it is uncommon for parents to be unwilling to seek out a diagnosis. Once a child is identified as having any social or communication deficit, unusual behaviors or sensory oddities, parents need to talk with their pediatrician about the developmental concerns. Alternately, a parent can self-refer to Georgiaâ€™s Children First program (855-707-8277), which provides a single point of entry for any child at risk for developmental delays.
For children in Georgia with ASD who are 7 years old or less, Ava’s Law, or Insurance Reform Bill SB1, mandates coverage for up to $30,000 annually in ASD-related medical services. Passed in April 2015, it specifically covers Applied Behavior Analysis (ABA). Behavior Analysis (BA) is a validated approach to understanding the â€œwhyâ€ of an individualâ€™s behavior; ABA uses that understanding to affect meaningful and positive change in behavior.Â The various ABA techniques are all designed to teach children with ASD who “lack the learning to learn skills.”
ABA is a small piece of the total care of a child with ASD. Specific treatment interventions include speech therapy, occupational therapy, physical therapy, feeding therapy for children with significant oral aversions and early access to preschool programs. Most importantly, and the key to successful overall care, is the central role parents play in learning their child’s unique strengths and weaknesses and incorporating taught techniques into learning activities throughout the day at home.
Because of the neuroplasticity of the infant brain, early interventions can potentially reverse, or at least minimize, social communication and behavioral deficits. We know that 10 to 15 percent of children who were diagnosed at 2 years of age, and who received interventions considered standard in the early 1990s, will no longer meet the criteria for ASD at 17 to 25 years of age. Earlier diagnosis, and more aggressive interventions, can only improve on these outcomes.In a 2013 Nature study, Atlantaâ€™s Marcus Autism Center and Emory Universityâ€™s Warren Jones, Ph.D., and Ami Klin, Ph.D., showed that eye-tracking technology can identify differences in eye fixation in those infants later diagnosed with ASD over the first 24 months of life. More remarkably, the apparent differences in gaze fixation are observable as early as two to six months of life.
While preliminary, this opens up an opportunity to objectively identify infants with ASD earlier, thus allowing intervention at younger ages when the infantâ€™s brain shows more neuroplasticity.
While it may be a stretch to imply that we can â€œcureâ€ ASD, these remarkable findings provide hope that early diagnosis and intervention may offer our youngest children â€“ and their families â€“ an opportunity for improved outcomes.