Psychiatric Disorders and Distal 21q Deletion-A Case Report

Partial deletion of chromosome 21q is a very rare genetic condition with highly variable phenotypic features including heart defects, high or cleft palate, brain malformations (e.g., cerebral atrophy), developmental delay and intellectual disability. So far, there is very limited knowledge about psy...

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Bibliographic Details
Published in:International journal of environmental research and public health 2020-04, Vol.17 (9), p.3096
Main Authors: Briegel, Wolfgang, Hoyer, Juliane
Format: Article
Language:English
Subjects:
Age
Anomalies
Atrophy
Autism
Behavior
Case Report
Case reports
Child & adolescent psychiatry
Children
Children & youth
Chromosome 21
Chromosome deletion
Chromosomes
Cleft lip/palate
Cysts
Diagnosis
Families & family life
Hyperactivity
Intellectual disabilities
Mental disorders
Movement disorders
Parents & parenting
Patients
Psychopathology
Psychosis
Psychotropic drugs
Schizophrenia
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Description
Summary:Partial deletion of chromosome 21q is a very rare genetic condition with highly variable phenotypic features including heart defects, high or cleft palate, brain malformations (e.g., cerebral atrophy), developmental delay and intellectual disability. So far, there is very limited knowledge about psychiatric disorders and their effective treatment in this special population. To fill this gap, the authors present the case of an initially five-year-old girl with distal deletion (del21q22.2) and comorbid oppositional defiant disorder (main psychiatric diagnosis) covering a period of time of almost four years comprising initial psychological/psychiatric assessment, subsequent treatment with Parent-Child Interaction Therapy (PCIT), and follow-up assessments. Post-intervention results including a 19-month follow-up indicated good overall efficacy of PCIT and high parental satisfaction with the treatment. This case report makes a substantial contribution to enhancing knowledge on psychiatric comorbidity and its effective treatment in patients with terminal 21q deletion. Moreover, it emphasizes the necessity of multidisciplinarity in diagnosis and treatment due to the variety of anomalies associated with 21q deletion. Regular screenings for psychiatric disorders and (if indicated) thorough psychological and psychiatric assessment seem to be reasonable in most affected children, as children with developmental delays are at increased risk of developing psychiatric disorders. As demonstrated with this case report, PCIT seems to be a good choice to effectively reduce disruptive behaviors in young children with partial deletion of chromosome 21q.
ISSN:1660-4601
1661-7827
1660-4601
DOI:10.3390/ijerph17093096