Results Interpretation & Application Practice Activity

Lily Case Study Patient Intake: Lily

Presenting Concerns
Lily is a 6 year-old girl with a history of speech delay and behavioral issues consistent with an autism spectrum disorder. Her parents report that Lily is a smart little girl and has been in relatively good health.

Developmental History
Lilys motor milestones were on time, but Lily had no words until after age 2. Her parents report that Lily doesnt relate well to other children or adults, and that she doesnt like loud noises, and gets easily upset in crowds.

Past Medical History

Unremarkable.

Birth History
Born at term via an uncomplicated vaginal delivery, no prenatal complications.

Family History
Unremarkable for developmental delay, cognitive disability, birth defects, stillbirth, sudden death, and repeat miscarriage.

Physical Exam
During your exam Lily seldom makes eye contact. Her physical exam is otherwise unremarkable.

Previous Testing
Lily has been previously evaluated by a clinical geneticist and chromosome testing was reportedly normal.

Differential Diagnosis & Genetic Testing

Lilys parents are interested in more information about Lilys diagnosis and recurrence risks, as they are c onsidering having another baby. You do not recognize a specific genetic syndrome. Based on her history and physical, you order chromosomal microarray testing after pre-test counseling.

Microarray Results
This result is consistent with a deletion on the long arm of chromosome 15q. It is smaller and distal from the more common 15q11.2 deletion thought to be a susceptibility locus for autism spectrum disorder, behavior and cognitive problems. It is therefore is reported as a variant of uncertain clinical significance. Parental testing is recommended.

Published September 2013 NCHPEG All rights reserved

Discussion Questions
Part 1: Interpretation of initial results
Using the aCGH handout and interpreting genetic testing results tool, work with your small group to answer the following questions: What does the result mean for Lily? What does the result mean for Lilys family? What other information would help? What are your next steps?

Part 2: Interpretation after family testing

You decide to order CMA testing in Lilys parents to clarify the significance of the findings. This reveals that Lilys fathe r has the same variant. What does this mean for Lily? What does this mean for her family? What other information would help? What are your next steps?

Part 3: Interpretation after new clinical information

At a follow-up visit, Lilys father reports that his therapist has told him he could have Asperger syndrome. What does this mean for Lily? What does this mean for her family? What steps do you recommend for Lily? For her family?

Published October 2013 NCHPEG All rights reserved