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Identification of 16p11.2 deletion syndrome on a child inpatient psychiatric unit: A case report and call for inpatient genetic testing.

作者信息

Gibbs William, Bell Harrison, Ajith Aniruddh, Sadtler Kim, Escuro Katrina, Brooks Deborah, Edwards Sarah

机构信息

Department of Psychiatry, Division of Child and Adolescent Psychiatry, University of Maryland School of Medicine, Baltimore, Maryland, USA.

出版信息

J Child Adolesc Psychiatr Nurs. 2021 May;34(2):133-138. doi: 10.1111/jcap.12305. Epub 2021 Jan 2.

DOI:10.1111/jcap.12305
PMID:33386643
Abstract

PURPOSE

This case highlights the importance of nursing-directed interprofessional treatment and inpatient unit genetic testing to identify genetic syndromes that may potentiate psychiatric conditions.

SOURCES USED

A case study of a 10-year-old Caucasian male with a history of a congenital heart defect, hand malformation, and low academic functioning who was admitted to the child inpatient psychiatric unit for eloping from school, aggression, and possible psychotic symptoms. Data were collected using patient medical records and interprofessional evaluation from nursing, psychiatry, and occupational therapy.

RESULTS

The patient was treated with risperidone to manage psychotic symptoms. Dietary, occupational therapy, and scholastic plans were also implemented. After discharge, results of genetic microarray analysis revealed a Type 1 16p11.2 deletion.

CONCLUSION

The role of nursing, interprofessional collaboration, and access to consultation teams play a crucial role in patient care for early diagnosis and treatment. Inpatient genetic testing has the potential to quickly identify and diagnose previously unidentified symptom clusters, leading to early intervention, closer monitoring, and improved patient outcomes.

摘要

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[A girl with 16p11.2 deletion syndrome].[一名患有16p11.2缺失综合征的女孩]
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引用本文的文献

1
Three case reports of patients indicating the diversity of molecular and clinical features of 16p11.2 microdeletion anomaly.三例患者病例报告表明了 16p11.2 微缺失异常的分子和临床特征的多样性。
BMC Med Genomics. 2021 Mar 10;14(1):76. doi: 10.1186/s12920-021-00929-8.