Case Study: Collaboration Helps Clinical Team Diagnose Genetic Disorder
Work Setting: Health Care Work Setting: Private Practice
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Summary
An interprofessional practice (IPP) team at a cleft lip and palate clinic developed a treatment plan for a 4-year-old girl with hypernasal speech and dysmorphic features. By working across specialties, the team diagnosed the girl with 22q11.2 deletion syndrome (22q11.2DS) and executed a treatment plan that included speech-language therapy and surgery to create a pharyngeal flap.
Background
Elizabeth, a 4-year-old girl, had been enrolled in speech-language therapy for 6 months. Concerned about Elizabeth’s hypernasal speech, poor intelligibility, and dysmorphic features, the speech-language pathologist (SLP) referred her to an IPP team at the local cleft lip and palate clinic for further evaluation. Elizabeth’s parents agreed with the referral.
Meet the Team
The IPP cleft lip and palate team included the following members:
How They Collaborated
The IPP team members met to discuss Elizabeth’s assessment as well as team roles and responsibilities. The team decided that all members would evaluate Elizabeth in a single visit according to their specialty. In addition to evaluations by the SLP, ENT, plastic surgeon, NP, and audiologist, a geneticist would examine Elizabeth, review her family medical history, and determine the need for genetic testing. Afterwards, they would meet as a group to discuss observations and recommendations.
After the evaluations, the team met to share the results and to develop a coordinated treatment plan. The SLP and plastic surgeon found no obvious signs of a submucous cleft palate. The audiologist and ENT found Elizabeth’s hearing to be normal. However, during Elizabeth’s visit to the clinic, the geneticist explained to Elizabeth’s parents the meaning of 22q11.2DS and emphasized the importance of confirming the diagnosis because of other potential implications for her medical care. The lab had drawn Elizabeth’s blood for a microarray.
Based on these findings, the team developed and agreed on a treatment plan, which the team facilitator communicated to the family. This included speech-language therapy, a meeting with the geneticist to discuss results of the microarray, and a follow-up procedure with the ENT to confirm a surgical plan.
Outcome
At cleft palate clinic the following month, the results from the microarray confirmed the 22q11.2DS diagnosis. Elizabeth and her parents returned to the cleft lip and palate clinic for a nasopharyngoscopy and to discuss continued treatment. This plan included ongoing speech therapy and surgery to create a pharyngeal flap. Elizabeth and her family also met with the psychologist and social worker to discuss the risk for learning difficulties and to review the mental health concerns associated with her diagnosis.
Ongoing Collaboration
After pharyngeal flap surgery and postoperative assessment, Elizabeth will return at least annually for reevaluation. The team will continue to monitor her outcomes and progress from year to year.
The cleft lip and palate team meets consistently every 2 weeks for a rotating clinic. They maintain communication with each other and with Elizabeth’s parents. At the end of their rounds each day, team members debrief about their patients—doing so encourages mutual respect, trust, and collaboration across their disciplines.
