Question

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 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

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.

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 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.

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 Tommy’s 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?

Answer 1

# The purpose of M-CHAT :-

Modified Checklist for Autism in Toddlers (M-CHAT) is a validated developmental screening tool for toddlers between 16 and 30 months of age. It is designed to identify children who may benefit from a more thorough developmental and autism evaluation.

# It is used at an age between 16 to 30 months . It is a tool used to screen the patients with autism . It has a certain set of questionaire used for evaluation .

# Diagnosing an ASD takes two steps:

Developmental Screening

Comprehensive Diagnostic Evaluation

Doctors look at the child’s behavior and development to make a diagnosis.

Autism can sometimes be detected at 18 months or younger. By age 2, a diagnosis by an experienced professional can be considered very reliable