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Open Access 01-03-2021 | Disorders of Intellectual Development | Editorial

Need for psychiatric phenotyping in patients with rare genetic disorders

Authors: Franziska Degenhardt, Gertraud Gradl-Dietsch, Johannes Hebebrand

Published in: European Child & Adolescent Psychiatry | Issue 3/2021

Excerpt

Genetic information is increasingly part of child and adolescent psychiatry. The number of publications in European Child and Adolescent Psychiatry on genetic topics reflects this. For example, recent papers focused on patients with a genetic diagnosis (e.g. 22q11.2 deletion syndrome) [1, 2] and parents of a child with a genetic disorder [3]. Furthermore, clinicians routinely interact with patients with familial high risk for a mental health disorder [4]. A recent European Child and Adolescent Psychiatry editorial pinpointed the integration of genetics into this medical specialty as a major topic within future training of child and adolescent psychiatrists [5, 6]. …

Mosheva M, Pouillard V, Fishman Y, Dubourg L, Sofrin-Frumer D, Serur Y, Weizman A, Eliez S, Gothelf D, Schneider M (2019) Education and employment trajectories from childhood to adulthood in individuals with 22q11.2 deletion syndrome. Eur Child Adolesc Psychiatry 28:31–42. https://doi.org/10.1007/s00787-018-1184-2CrossRefPubMed

Mosheva M, Korotkin L, Gur RE, Weizman A, Gothelf D (2020) Effectiveness and side effects of psychopharmacotherapy in individuals with 22q11.2 deletion syndrome with comorbid psychiatric disorders: a systematic review. Eur Child Adolesc Psychiatry 29:1035–1048. https://doi.org/10.1007/s00787-019-01326-4CrossRefPubMed

Mori Y, Downs J, Wong K, Leonard H (2019) Longitudinal effects of caregiving on parental well-being: the example of Rett syndrome, a severe neurological disorder. Eur Child Adolesc Psychiatry 28:505–520. https://doi.org/10.1007/s00787-018-1214-0CrossRefPubMed

Ellersgaard D, Gregersen M, Ranning A, Haspang TM, Christiani C, Hemager N, Burton BK, Spang KS, Sondergaard A, Greve A, Gantriis D, Jepsen JRM, Mors O, Plessen KJ, Nordentoft M, Thorup AAE (2020) Quality of life and self-esteem in 7-year-old children with familial high risk of schizophrenia or bipolar disorder: the Danish High Risk and Resilience Study-VIA 7-a population-based cohort study. Eur Child Adolesc Psychiatry 29:849–860. https://doi.org/10.1007/s00787-019-01397-3CrossRefPubMed

Schroder CM, Seitz J, Seker A, Signorini G (2020) Training for child and adolescent psychiatry in the twenty-first century. Eur Child Adolesc Psychiatry 29:3–9. https://doi.org/10.1007/s00787-019-01467-6CrossRefPubMedPubMedCentral

Deschamps P, Hebebrand J, Jacobs B, Robertson P, Anagnostopoulos DC, Banaschewski T, Birkle SM, Dubicka B, Falissard B, Giannopoulou I, Hoekstra PJ, Kaess M, Kapornai K, Klauser P, Revet A, Schröder CM, Seitz J, Şeker A, Signorini G (2020) Training for child and adolescent psychiatry in the twenty-first century. Eur Child Adolesc Psychiatry 29:3–9. https://doi.org/10.1007/s00787-019-01467-6CrossRefPubMedPubMedCentral

Cross-Disorder Group of the Psychiatric Genomics Consortium (2019) Genomic relationships, novel loci, and pleiotropic mechanisms across eight psychiatric disorders. Cell 179:1469-1482.e11. https://doi.org/10.1016/j.cell.2019.11.020CrossRefPubMedCentral

Iakoucheva LM, Muotri AR, Sebat J (2019) Getting to the cores of autism. Cell 178:1287–1298. https://doi.org/10.1016/j.cell.2019.07.037CrossRefPubMedPubMedCentral

Bass N, Skuse D (2018) Genetic testing in children and adolescents with intellectual disability. Curr Opin Psychiatry 31:490–495. https://doi.org/10.1097/YCO.0000000000000456CrossRefPubMed

10.

Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, et al (2010) Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 86:749–64 https://doi.org/10.1016/j.ajhg.2010.04.006

11.

Srivastava S, Love-Nichols JA, Dies KA, Ledbetter DH, Martin CL, Chung WK, Firth HV, Frazier T, Hansen RL, Prock L, Brunner H, Hoang N, Scherer SW, Sahin M, Miller DT NDD Exome Scoping Review Work Group (2019) Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders. Genet Med 21:2413–2421. https://doi.org/10.1038/s41436-019-0554-6

12.

Tammimies K, Marshall CR, Walker S, Kaur G, Thiruvahindrapuram B, Lionel AC et al (2015) Molecular diagnostic yield of chromosomal microarray analysis and whole-exome sequencing in children with autism spectrum disorder. JAMA 314:895–903. https://doi.org/10.1001/jama.2015.10078CrossRefPubMed

13.

Sullivan PF, Owen MJ (2020) Increasing the clinical psychiatric knowledge base about pathogenic copy number variation. Am J Psychiatry 177:204–209. https://doi.org/10.1176/appi.ajp.2019.19040335CrossRefPubMedPubMedCentral

14.

McDonald-McGinn DM, Hain HS , Emanuel BS, Zackai EH, et al (1999) 22q11.2 Deletion Syndrome. In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2020. [updated 2020 Feb 27]. https://www.ncbi.nlm.nih.gov/books/NBK1523/

15.

Mitchel MW, Moreno-De-Luca D, Myers SM, Levy RV, Turner S, Ledbetter DH, Martin CL et al (2016) 17q12 Recurrent Deletion Syndrome. In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2020. [updated 2020 Oct 15]. https://www.ncbi.nlm.nih.gov/books/NBK401562/

16.

Butcher NJ, Fung WL, Fitzpatrick L, Guna A, Andrade DM, Lang AE, Chow EWC, Bassett AS (2015) Response to clozapine in a clinically identifiable subtype of schizophrenia. Br J Psychiatry 206:484–491. https://doi.org/10.1192/bjp.bp.114.151837CrossRefPubMedPubMedCentral

17.

Wither RG, Borlot F, MacDonald A, Butcher NJ, Chow EWC, Bassett AS, Andrade DM (2017). 22q11.2 deletion syndrome lowers seizure threshold in adult patients without epilepsy. Epilepsia. 58:1095–101. https://doi.org/10.1111/epi.13748

Title: Need for psychiatric phenotyping in patients with rare genetic disorders
Authors: Franziska Degenhardt
Gertraud Gradl-Dietsch
Johannes Hebebrand
Publication date: 01-03-2021
Publisher: Springer Berlin Heidelberg
Keywords: Disorders of Intellectual Development
Intellectual Disability
Autism Spectrum Disorder
Child and Adolescent Psychiatry
Published in: European Child & Adolescent Psychiatry / Issue 3/2021
Print ISSN: 1018-8827
Electronic ISSN: 1435-165X
DOI: https://doi.org/10.1007/s00787-021-01761-2

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Need for psychiatric phenotyping in patients with rare genetic disorders

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