Case study

Tommys M-CHAT Progress Tommy is a 27-month-old boy that you have followed since birth in your primary care clinic. Prenatal course was unremarkable, and he was born at full term to a 42-year-old mother. 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 goats milk formula that his mother made for the first year of life No hospitalizations, no history of neonatal jaundice, anemia, elevated lead, or trauma This is a second marriage for Tommys father, who is 52. There are no children from the fathers first marriage. Tommy is home full-time with his mother and older sister, age 4, who is typically developing. Tommys father works as an applied mathematician at a local university. His mother has a masters degree in library science, and she stopped working outside the home after the birth of Tommys 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. Tommy has already had a normal hearing evaluation. In the Primary Care Office: At the end of the 2-year well-child exam, you and Tommys 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 Tommys 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 Tommys parents led you to refer them to a specialist for evaluation. At his 18-month visit, you and Tommys parents discussed issues raised by the screen and concerns about Tommys 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. What is the purpose of the M-CHAT questionnaire? How and when should it be used? Explain the difference of how autism screening is different from an actual diagnosis. Now that Tommys parents are showing signs of readiness for further evaluation and possible diagnosis, what is the next step for the pediatric primary care provider? What is a comprehensive diagnostic evaluation and who else will need to be involved from the healthcare team to ensure proper diagnosis and treatment for Tommy?