Case Study Part I

Tommy is a 27-month-old boy that you have followed since birth in your primary care continuity clinic. Prenatal course was unremarkable, and he was born at full term to a 42-year-old mother.

A smiling little boy

Medical history:

  • Notable for colic in the first few months of life, several episodes of otitis media, and several respiratory viral illnesses
  • Is on no medications and has no known medication allergies
  • Un-immunized
  • Ate a goat’s milk formula that his mother made for the first year of life
  • No hospitalizations, no history of neonatal jaundice, anemia, elevated lead, or trauma

A happy boy outside

This is a second marriage for Tommy’s father, who is 52. There are no children from the father’s first marriage. Tommy is home full-time with his mother and older sister, age 4, who is typically developing. Tommy’s father works as an applied mathematician at a local university. His mother has a master’s degree in library science, and she stopped working outside the home after the birth of Tommy’s sister.Family history is notable for delayed onset of speech in a paternal uncle, who first spoke at age 4, and is now a professor of astrophysics, and a first cousin with learning disabilities. Both parents are healthy.

In the Primary Care Office

A boy playing at school

At the end of the 2-year well-child exam, you and Tommy’s parents review the M-CHAT-R they filled out while waiting in the exam room with Tommy.

You tell the parents you would like to talk with them to discuss the results of their questionnaire.

Since Tommy’s parents had also filled out the M-CHAT-R at his 18-month well-child visit, you can use the results of both checklists to talk with his parents. The results of the first M-CHAT-R and follow up with Tommy’s parents led you to refer them to a specialist for evaluation.

At his 18-month visit, you and Tommy’s parents discussed issues raised by the screen and concerns about Tommy’s socialization and communication. You had mentioned these might be signs of autism spectrum disorder (ASD). At that time, you referred Tommy for a hearing evaluation and the local early intervention system. They were to return to see you at 20 months to review the results of the hearing evaluation and see where things were with the early intervention referral.

A boy playing with blocks

In the intervening 6 months, Tommy did not have a hearing evaluation or come back to the primary care pediatrician. He also missed an appointment with the developmental-behavioral pediatrician.You realize you did not communicate your level of concern adequately to Tommy’s parents at the 18-month well-child check.

During this discussion, Tommy plays with the contents of a bag of his favorite toys, his “shapes,” colored cards cut into different polygons which he names quietly to himself (“square…triangle…octagon…”) during the visit.

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