Case Report of ADHD and MEIS2 Mutation
Author Information
Author(s): Shen Fang, Li Junyan, Li Dandan, Zhou Hui
Primary Institution: Key Laboratory of Birth Defects and Related Diseases of Women and Children of Ministry of Education (MOE), Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China
Hypothesis
What are the clinical features and genetic underpinnings of a patient with ADHD and MEIS2 gene mutation?
Conclusion
The case highlights the importance of genetic testing in ADHD patients with multiple comorbidities and poor response to treatment.
Supporting Evidence
- The patient exhibited a de novo frameshift mutation in the MEIS2 gene.
- She had multiple comorbidities including cleft palate and congenital heart defects.
- Despite treatment with methylphenidate, her attention deficit did not significantly improve.
Takeaway
A girl with ADHD had a mutation in a gene called MEIS2, which caused her to have other health issues too. Even after treatment, she still had trouble focusing.
Methodology
Whole exome sequencing was performed on the patient and her parents to identify genetic mutations.
Limitations
The study is based on a single case report, limiting generalizability.
Participant Demographics
A 10-year-old female child.
Digital Object Identifier (DOI)
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