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


Journal

Journal of child and adolescent psychiatric nursing : official publication of the Association of Child and Adolescent Psychiatric Nurses, Inc
ISSN: 1744-6171
Titre abrégé: J Child Adolesc Psychiatr Nurs
Pays: England
ID NLM: 9431738

Informations de publication

Date de publication:
05 2021
Historique:
revised: 28 11 2020
received: 25 04 2020
accepted: 07 12 2020
pubmed: 3 1 2021
medline: 29 10 2021
entrez: 2 1 2021
Statut: ppublish

Résumé

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

Identifiants

pubmed: 33386643
doi: 10.1111/jcap.12305
doi:

Types de publication

Case Reports Journal Article

Langues

eng

Pagination

133-138

Informations de copyright

© 2020 Wiley Periodicals LLC.

Références

American Academy of Pediatrics, Committee on Bioethics, Committee on Genetics; American College of Medical Genetics and Genomics Social, Ethical and Legal Issues Committee. (2013). Ethical and policy issues in genetic testing and screening of children. Pediatrics, 131(3), 620-622.
American Nurses Association. (2014). Psychiatric-mental health nursing: Scope and standards of practice (2nd ed.).
Botkin, J. R., Belmont, J. W., Berg, J. S., Berkman, B. E., Bombard, Y., Holm, I. A., Levy, H. P., Ormond, K. E., Saal, H. M., Spinner, N. B., Wilfond, B. S., & McInerney, J. D. (2015). Points to consider: Ethical, legal, and psychosocial implications of genetic testing in children and adolescents. American Journal of Human Genetics, 97(1), 6-21. https://doi.org/10.1016/j.ajhg.2015.05.022
Chawner, S., Owen, M. J., Holmans, P., Raymond, F. L., Skuse, D., Hall, J., & van den Bree, M. (2019). Genotype-phenotype associations in children with copy number variants associated with high neuropsychiatric risk in the UK (IMAGINE-ID): A case-control cohort study. The Lancet Psychiatry, 6(6), 493-505. https://doi.org/10.1016/S2215-0366(19)30123-3
Croen, L. A., Najjar, D. V., Ray, G. T., Lotspeich, L., & Bernal, P. (2006). A comparison of health care utilization and costs of children with and without autism spectrum disorders in a large group-model health plan. Pediatrics, 118(4), e1203-e1211.
Cuccaro, M. L., Czape, K., Alessandri, M., Lee, J., Deppen, A. R., Bendik, E., Dueker, N., Nations, L., Pericak-Vance, M., & Hahn, S. (2014). Genetic testing and corresponding services among individuals with autism spectrum disorder (ASD). American Journal of Medical Genetics, Part A, 164(10), 2592-2600.
D'Angelo, D., Lebon, S., Chen, Q., Martin-Brevet, S., Snyder, L. G., Hippolyte, L., Hanson, E., Maillard, A. M., Faucett, W. A., Macé, A., Pain, A., Bernier, R., Chawner, S. J. R. A., David, A., Andrieux, J., Aylward, E., Baujat, G., Caldeira, I., Conus, P., … Simons Variation in Individuals Project (VIP) Consortium (2016). Defining the effect of the 16p11.2 duplication on cognition, behavior, and medical comorbidities. The Journal of the American Medical Association Psychiatry, 73(1), 20-30. https://doi.org/10.1001/jamapsychiatry.2015.2123
Guha, S., Rees, E., Darvasi, A., Ivanov, D., Ikeda, M., Bergen, S. E., Magnusson, P. K., Cormican, P., Morris, D., Gill, M., Cichon, S., Rosenfeld, J. A., Lee, A., Gregersen, P. K., Kane, J. M., Malhotra, A. K., Rietschel, M., Nöthen, M. M., Degenhardt, F. … Wellcome Trust Case Control Consortium 2 (2013). Implication of a rare deletion at distal 16p11.2 in schizophrenia. The Journal of the American Medical Association Psychiatry, 70(3), 253-260. https://doi.org/10.1001/2013.jamapsychiatry.71
Hanson, E., Bernier, R., Porche, K., Jackson, F. I., Goin-Kochel, R. P., Snyder, L. G., Snow, A. V., Wallace, A. S., Campe, K. L., Zhang, Y., Chen, Q., D'Angelo, D., Moreno-De-Luca, A., Orr, P. T., Boomer, K. B., Evans, D. W., Kanne, S., Berry, L., Miller, F. K., … Simons Variation in Individuals Project Consortium (2015). The cognitive and behavioral phenotype of the 16p11.2 deletion in a clinically ascertained population. Biological Psychiatry, 77(9), 785-793. https://doi.org/10.1016/j.biopsych.2014.04.021
Kiely, B., Vettam, S., & Adesman, A. (2016). Utilization of genetic testing among children with developmental disabilities in the United States. The Application of Clinical Genetics, 9, 93-100. https://doi.org/10.2147/TACG.S103975
Lecavalier, L., McCracken, C. E., Aman, M. G., McDougle, C. J., McCracken, J. T., Tierney, E., Smith, T., Johnson, C., King, B., Handen, B., Swiezy, N. B., Eugene Arnold, L., Bearss, K., Vitiello, B., & Scahill, L. (2019). An exploration of concomitant psychiatric disorders in children with autism spectrum disorder. Comprehensive Psychiatry, 88, 57-64.
Leyfer, O. T., Folstein, S. E., Bacalman, S., Davis, N. O., Dinh, E., Morgan, J., Tager-Flusberg, H., & Lainhart, J. E. (2006). Comorbid psychiatric disorders in children with autism: Interview development and rates of disorders. Journal of Autism and Developmental Disorders, 36(7), 849-861.
McCarthy, S. E., Makarov, V., Kirov, G., Addington, A. M., McClellan, J., Yoon, S., Perkins, D. O., Dickel, D. E., Kusenda, M., Krastoshevsky, O., Krause, V., Kumar, R. A., Grozeva, D., Malhotra, D., Walsh, T., Zackai, E. H., Kaplan, P., Ganesh, J., Krantz, I. D., … Sebat, J. (2009). Microduplications of 16p11. 2 are associated with schizophrenia. Nature Genetics, 41(11), 1223-1227.
Miller, D. T., Chung, W., Nasir, R., Shen, Y., Steinman, K. J., Wu, B. L., & Hanson, E. (2015). 16p11.2 recurrent microdeletion. In M. P. Adam, H. H. Ardinger, R. A. Pagon, et al., (Eds.), GeneReviews® [Internet]. Seattle (WA): University of Washington. Available from: https://www.ncbi.nlm.nih.gov/books/NBK11167/
Niarchou, M., Chawner, S., Doherty, J. L., Maillard, A. M., Jacquemont, S., Chung, W. K., Green-Snyder, L., Bernier, R. A., Goin-Kochel, R. P., Hanson, E., Linden, D., Linden, S. C., Raymond, F. L., Skuse, D., Hall, J., Owen, M. J., & Bree, M. (2019). Psychiatric disorders in children with 16p11.2 deletion and duplication. Translational Psychiatry, 9(1), 8. https://doi.org/10.1038/s41398-018-0339-8
Peabody, J., DeMaria, L., Tamandong-LaChica, D., Florentino, J., Acelajado, M. C., & Burgon, T. (2015). Low rates of genetic testing in children with developmental delays, intellectual disability, and autism spectrum disorders. Global Pediatric Health, 2, 2333794X15623717.
Platt, J. M., Keyes, K. M., McLaughlin, K. A., & Kaufman, A. S. (2019). Intellectual disability and mental disorders in a US population representative sample of adolescents. Psychological Medicine, 49(6), 952-961.
Ross, L. F., Saal, H. M., David, K. L., & Anderson, R. R. (2013). Technical report: Ethical and policy issues in genetic testing and screening of children. Genetics in Medicine, 15(3), 234-245.
Rutz, A., Dent, K. M., Botto, L. D., Young, P. C., & Carbone, P. S. (2019). Brief report: Pediatrician perspectives regarding genetic evaluations of children with autism spectrum disorder. Journal of Autism and Developmental Disorders, 49(2), 794-808.
Schaefer, G., & Mendelsohn, N. (2013). Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. Genetics in Medicine, 15, 399-407.
Shinawi, M., Liu, P., Kang, S. H. L., Shen, J., Belmont, J. W., Scott, D. A., Probst, F. J., Craigen, W. J., Graham, B. H., Pursley, A., Clark, G., Lee, J., Proud, M., Stocco, A., Rodriguez, D. L., Kozel, B. A., Sparagana, S., Roeder, E. R., McGrew, S. G., … Lupski, J. R. (2010). Recurrent reciprocal 16p11. 2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. Journal of Medical Genetics, 47(5), 332-341.
Simons VIP Consortium. (2012). Simons Variation in Individuals Project (Simons VIP): A genetics-first approach to studying autism spectrum and related neurodevelopmental disorders. Neuron, 73(6), 1063-1067.
Volkmar, F., Siegel, M., Woodbury-Smith, M., King, B., McCracken, J., & State, M. (2014). Practice parameter for the assessment and treatment of children and adolescents with autism spectrum disorder. Journal of the American Academy of Child and Adolescent Psychiatry, 53(2), 237-257.
Weiss, L. A., Shen, Y., Korn, J. M., Arking, D. E., Miller, D. T., Fossdal, R., Saemundsen, E., Stefansson, H., Ferreira, M. A. R., Green, T., Platt, O. S., Ruderfer, D. M., Walsh, C. A., Altshuler, D., Chakravarti, A., Tanzi, R. E., Stefansson, K., Santangelo, S. L., Gusella, J. F., … Daly, M. J. (2008). Association between microdeletion and microduplication at 16p11. 2 and autism. New England Journal of Medicine, 358(7), 667-675.
Wydeven, K. V., Kwan, A., Hardan, A. Y., & Bernstein, J. A. (2012). Underutilization of genetics services for autism: The importance of parental awareness and provider recommendation. Journal of Genetic Counseling, 21(6), 803-813.
Zablotsky, B., Black, L. I., Maenner, M. J., Schieve, L. A., Danielson, M. L., Bitsko, R. H., Blumberg, S. J., Kogan, M. D., & Boyle, C. A. (2019). Prevalence and trends of developmental disabilities among children in the United States: 2009-2017. Pediatrics, 144(4), e20190811.
Zufferey, F., Sherr, E. H., Beckmann, N. D., Hanson, E., Maillard, A. M., Hippolyte, L., Macé, A., Ferrari, C., Kutalik, Z., Andrieux, J., Aylward, E., Barker, M., Bernier, R., Bouquillon, S., Conus, P., Delobel, B., Faucett, W. A., Goin-Kochel, R. P., Grant, E., … 16p11.2 European Consortium (2012). A 600 kb deletion syndrome at 16p11. 2 leads to energy imbalance and neuropsychiatric disorders. Journal of Medical Genetics, 49(10), 660-668.

Auteurs

William Gibbs (W)

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

Harrison Bell (H)

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

Aniruddh Ajith (A)

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

Kim Sadtler (K)

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

Katrina Escuro (K)

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

Deborah Brooks (D)

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

Sarah Edwards (S)

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

Articles similaires

[Redispensing of expensive oral anticancer medicines: a practical application].

Lisanne N van Merendonk, Kübra Akgöl, Bastiaan Nuijen
1.00
Humans Antineoplastic Agents Administration, Oral Drug Costs Counterfeit Drugs

Smoking Cessation and Incident Cardiovascular Disease.

Jun Hwan Cho, Seung Yong Shin, Hoseob Kim et al.
1.00
Humans Male Smoking Cessation Cardiovascular Diseases Female
Humans United States Aged Cross-Sectional Studies Medicare Part C
1.00
Humans Yoga Low Back Pain Female Male

Classifications MeSH