Lucky for the pediatrician, many parents are increasingly interested in childhood development and are knowledgeable on "ages and stages" or the appropriate development of a normal child. Much of the well child check up is devoted to tracking a child's development in gross motor, fine motor, language and cognitive skills. And high on the radar of many parents is Autism Spectrum Disorder. Rightly so, as it has become a more frequent diagnosis in the past 20 years and various studies pinpoint the frequency between 1 in 50 and 1 in 400 children, with a male predominance of 4:1.
Despite the increasing frequency of diagnosis, Autism can still be difficult to identify consistently. In general, Autism Spectrum Disorders (which includes PDD-NOS or Pervasive Developmental Disorder, Not Otherwise Specified and Asperger Syndrome) are a group of biologically based neurodevelopmental disorders characterized by impairments in three major domains: socialization, communication and behavior. And while there are occasionally clear signs before the age of 6 months in many children, the diagnosis is usually made between 15 months and 2 years old. Pediatricians are now more anxious to make the diagnosis before the age of 2 because beginning intense therapy early can make a big difference in the prognosis of what can be a disabling lifetime disorder.
There are many signs of Autism and an experienced clinician who has seen many cases will recognize subtle clues in the behavior of an infant; however, most of the time the child presents to the pediatrician after the parents have noticed deficits related to communication. Infants with autism may not hold their arms up to be lifted or held, may not learn to jabber in a conversational way with their parent, often do not point to indicate wants or needs and avoid eye contact. Many will not be interested in or play with regular toys in a normal way and may be very visually oriented—responding to visual stimuli like light coming through a window with fascination which can last hours. Some can be very difficult colicky babies and others very easy-going.
=Many parents will have an image of the autistic child as a "headbanger" or self-biter. These are behaviors which often develop later in the autistic child—at 2 years+—but are rarely present in the autistic infant. A normal infant may head bang on the edge of his crib or rock himself for comfort and parents need not be concerned. It's always good to check with the pediatrician at the well child visit!
After the age of one, the child with Autism typically has trouble developing language. They may not respond to their name or any verbal cues from a parent, they often cannot follow commands like "bring me your shoes," and they may have trouble communicating wants and needs. For example, some will lead their parent by the hand to the refrigerator for milk instead of verbalizing or gesturing. They may enjoy books because it combines communication with visual interest and may be completely engrossed by T.V. Motor skills are often impaired as autistic children may not be able to operate a tricycle or be able to jump or skip. They often have great difficulty with simple imitation and retreat to repetitive play routines when challenged. Some line up colors or trains, form patterns with sticks or crayons and can play by themselves happily rearranging over and over again objects which are visually interesting or feel good to touch. Occasionally autistic children have repetitive self-soothing activities like running a car over their arms over and over, or rubbing their face with a blanket in a certain pattern. They require more physical reassurance from parents and may be very threatened by new places, smells or sounds.
At your 18 month check up, everyone should fill out an MCHAT questionnaire- one of the best readily available screening tools for Autism. Children who are at risk should be identified and pursue further diagnosis right away. A great resource for parents of children who appear borderline is www.firstsigns.org—a website with a tremendous video collection with examples of normal and autistic children responding to adults and each other. Despite a normal MCHAT or other screening, parents who have true anxiety about their child should seek further assistance. One of the most useful and affordable tools is an evaluation from Early Childhood Intervention- a federally funded program to identify and treat developmental delay in the infant and toddler. It is important to contact ECI prior to your child turning 2 in order to take advantage of their services. Private speech evaluations can be expensive depending on insurance.
A diagnosis of Autism can technically be made by your pediatrician if they are experienced and comfortable, and sometimes it is necessary to identify the deficit in order to start therapy in a timely manner. Ideally, however, a developmental pediatrician (a general pediatrician who has completed a 3-year child development fellowship) or pediatric neurologist will evaluate children for whom there are concerns. The wait times can be overwhelming to see these specialists and often therapy must start without a formal evaluation.
Autism, in particular, is a part of my daily life since my son's diagnosis of speech delay at 18 months and Autism Spectrum Disorder at 2. I am continually learning more and more about children on the spectrum—they face a wide array of abilities and handicaps and are all very individual. My familiarity, however, has informed my interest in development and passionate belief that parents and pediatricians must assiduously screen for developmental delay. Alone, as a parent, even as a pediatrician-parent, I couldn't recognize warning signs that my child was Autistic. Looking back, I am amazed I couldn't see it. And the canvas of therapies is a difficult maze—it truly takes a team effort to help parents navigate developmental delay.
A brief FAQ for Autism from my perspective:
Why is the rate of Autism increasing? What causes Autism?
I don't know. Certainly an increase in early diagnosis is part of the story. I am fairly certain a true increase will not be ascribed to something as simple as a component of the modern diet or an isolated gene. It is most certainly due to genetics and environmental factors—studies suggest paternal age or flu exposure during certain prenatal months or even chemicals absorbed through plastics two generations ago in certain parts of the world. Interestingly, the nation with the highest per capita incidence of Autism is South Korea. Sidenote: vaccines have absolutely nothing to do with Autism as has been proven time and again.
What about alternative diets or therapies?
There is no evidence to suggest that a gluten-free or sugar-free diet can change the profound mental deficits seen at a very early age in Autism. In the past parents have desperately sought charlatan-like therapies, some with tragic consequences (chelation therapy). And some mainstream and certainly safe therapies like Sensory IntegrationTherapy has been found in multiple studies to be ineffective. That being said, this is a rapidly evolving area of study and interest and highly motivated people work tirelessly to find ways to make the earth a better place for kids with Autism. I would advise parents to experiment with safe alternative therapies if they wish, but to put the bulk of their money and time into evidence-backed therapies which have been shown to help.