CASE: Jacob is a 22-month-old wonderful boy, who is being seen a few months late for his 18-month-old visit because of scheduling snafus, as both parents work outside the home. At this visit, it is routine in our practice to administer the Modified Checklist for Autism in Toddlers (MCHAT) and the Parents' Evaluation of Developmental Status (PEDS). On the PEDS, in response to the question, “Do you have any concerns about how your child talks or makes speech sounds?” the parents respond “He only says 2 words in Hebrew and none in English.” On the MCHAT, they reply “no” to 3 items: (1) “Does your child ever pretend, for example, to talk on the phone or take care of a doll or pretend other things?” (2) “Does your child respond to his/her name when you call?” and (3) “Does your child sometimes stare at nothing or wander with no purpose?” This results in failing 1 critical and 3 total items. Our practice protocol recommends a referral for a diagnostic evaluation.
Jacob has been a healthy child, and this is the first time that his parents have fallen behind in routine health care maintenance visits. His medical history is unremarkable. He was born at term, weighing 3.2 kg, without any perinatal complications. His parents had emigrated from the Poland in their teenage years and have been married for 8 years. They also have a 5-year-old daughter. They both report that, in Poland, there are some relatives who were “very late talkers,” but they do not know about any definitive family history of autism.
At the 15-month visit, the parents reported that Jacob had expressive jargoning but no recognizable words. They stated then that he was not interested in toys but liked to play with the television remote control. He is in full-time child care—initially with a nanny in their home, but at 15 months started 3 days a week in a center-based childcare with many families from their community, where children speak Polish, English, and Hebrew at home.
His mother works full time as an accountant and father as a physicist in a commercial laboratory. Both have graduate degrees and are trilingual. The parents are conflicted in their interpretation of Jacob's behavior. His father is concerned that he is autistic and his mother feels that “he is just a little shy like me.”
His physical examination is normal. He is somewhat inhibited and anxious but will sit still on the examination table and alone during the examination. You update his immunizations and then struggle with where to head next.