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      Relationship between high trait anxiety in 22q11.2 deletion syndrome and the difficulties in medical, welfare, and educational services

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          Abstract

          Aim

          The 22q11.2 deletion syndrome (22q11DS) is associated with a high prevalence of mental health comorbidities. However, not enough attention has been paid to the elevated prevalence of high trait anxiety that begins early in life and may be enduring. We sought to identify specific medical, welfare, or educational difficulties associated with high trait anxiety in 22q11DS.

          Methods

          A questionnaire‐based survey was conducted for the parents of 22q11DS individuals ( N = 125). First, a multiple regression analysis was conducted to confirm the hypothesis that high trait anxiety in individuals with 22q11DS would be associated with parents' psychological distress. This was based on 19 questionnaire options regarding what difficulties the parents currently face about their child's disease, characteristics, and traits. Next, we explored what challenges faced in medical, welfare, and educational services would be associated with the trait anxiety in their child.

          Results

          The multiple regression analysis confirmed that the high trait anxiety was significantly associated with parental psychological distress ( β = 0.265, p = 0.018) among the 19 clinical/personal characteristics of 22q11DS. Furthermore, this characteristic was associated with various difficulties faced in the medical care, welfare, and education services, and the parent–child relationship.

          Conclusion

          To our knowledge, this is the first study to clarify quantitatively how the characteristic of high anxiety level in 22q11DS individuals is related to the caregivers' perceived difficulties in medical, welfare, and educational services. These results suggest the necessity of designing service structures informed of the fact that high trait anxiety is an important clinical feature of the syndrome.

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          Most cited references22

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          Short screening scales to monitor population prevalences and trends in non-specific psychological distress

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            22q11.2 deletion syndrome

            22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder, estimated to result mainly from de novo non-homologous meiotic recombination events occurring in approximately 1 in every 1,000 fetuses. The first description in the English language of the constellation of findings now known to be due to this chromosomal difference was made in the 1960s in children with DiGeorge syndrome, who presented with the clinical triad of immunodeficiency, hypoparathyroidism and congenital heart disease. The syndrome is now known to have a heterogeneous presentation that includes multiple additional congenital anomalies and later-onset conditions, such as palatal, gastrointestinal and renal abnormalities, autoimmune disease, variable cognitive delays, behavioural phenotypes and psychiatric illness - all far extending the original description of DiGeorge syndrome. Management requires a multidisciplinary approach involving paediatrics, general medicine, surgery, psychiatry, psychology, interventional therapies (physical, occupational, speech, language and behavioural) and genetic counselling. Although common, lack of recognition of the condition and/or lack of familiarity with genetic testing methods, together with the wide variability of clinical presentation, delays diagnosis. Early diagnosis, preferably prenatally or neonatally, could improve outcomes, thus stressing the importance of universal screening. Equally important, 22q11.2DS has become a model for understanding rare and frequent congenital anomalies, medical conditions, psychiatric and developmental disorders, and may provide a platform to better understand these disorders while affording opportunities for translational strategies across the lifespan for both patients with 22q11.2DS and those with these associated features in the general population.
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              Practical guidelines for managing patients with 22q11.2 deletion syndrome.

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                Author and article information

                Contributors
                kasaik-tky@umin.net
                Journal
                PCN Rep
                PCN Rep
                10.1002/(ISSN)2769-2558
                PCN5
                PCN Reports: Psychiatry and Clinical Neurosciences
                John Wiley and Sons Inc. (Hoboken )
                2769-2558
                13 February 2023
                March 2023
                : 2
                : 1 ( doiID: 10.1002/pcn5.v2.1 )
                : e80
                Affiliations
                [ 1 ] Department of Neuropsychiatry The University of Tokyo Hospital Tokyo Japan
                [ 2 ] The Health Care Science Institute Tokyo Japan
                [ 3 ] Department of Neuropsychiatry, Graduate School of Medicine The University of Tokyo Tokyo Japan
                [ 4 ] Department of Mental Health, Graduate School of Medicine The University of Tokyo Tokyo Japan
                [ 5 ] Department of Child Psychiatry The University of Tokyo Hospital Tokyo Japan
                [ 6 ] Department of Cellular Neurobiology, Graduate School of Medicine The University of Tokyo Tokyo Japan
                [ 7 ] World‐Leading Innovative Graduate Study Program for Life Science and Technology (WINGS‐LST) The University of Tokyo Tokyo Japan
                [ 8 ] Graduate School of Clinical Psychology Kagoshima University Kagoshima Japan
                [ 9 ] Department of Child Neuropsychiatry, Graduate, School of Medicine The University of Tokyo Tokyo Japan
                [ 10 ] Department of Cardiovascular Medicine Kyushu University Graduate School of Medical Sciences Fukuoka Japan
                [ 11 ] Department of Psychosocial Medicine National Center for Child Health and Development Tokyo Japan
                [ 12 ] Department of Pediatrics Kitasato University School of Medicine Kanagawa Japan
                [ 13 ] Division of Medical Genetics Saitama Children's Medical Center Saitama Japan
                [ 14 ] Department of Pediatric Cardiology and Adult Congenital Cardiology Tokyo Women's Medical University Tokyo Japan
                [ 15 ] The International Research Center for Neurointelligence (IRCN), The University of Tokyo Institutes for Advanced Study (UTIAS) The University of Tokyo Tokyo Japan
                [ 16 ] UTokyo Institute for Diversity and Adaptation of Human Mind (UTIDAHM) The University of Tokyo Tokyo Japan
                Author notes
                [*] [* ] Correspondence Kiyoto Kasai, MD, PhD, Department of Neuropsychiatry, The University of Tokyo Hospital, 7‐3‐1 Hongo, Bunkyo‐ku, Tokyo 113‐8655, Japan.

                Email: kasaik-tky@ 123456umin.net

                Author information
                http://orcid.org/0000-0002-5215-5878
                http://orcid.org/0000-0002-2341-5095
                http://orcid.org/0000-0002-4443-4535
                Article
                PCN580
                10.1002/pcn5.80
                11114383
                38868412
                34475ed1-9f35-4436-9a12-18c5d5ede29d
                © 2023 The Authors. Psychiatry and Clinical Neurosciences Reports published by John Wiley & Sons Australia, Ltd on behalf of Japanese Society of Psychiatry and Neurology.

                This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.

                History
                : 08 January 2023
                : 31 August 2022
                : 23 January 2023
                Page count
                Figures: 0, Tables: 4, Pages: 9, Words: 5765
                Funding
                Funded by: University of Tokyo , doi 10.13039/501100004721;
                Award ID: IRCN
                Award ID: UTIDAHM
                Funded by: Japan Science and Technology Agency , doi 10.13039/501100002241;
                Award ID: Moonshot R&D Grant Number JPMJMS2021
                Funded by: Japan Society for the Promotion of Science , doi 10.13039/501100001691;
                Award ID: JP20H03596
                Award ID: JP21H05171
                Award ID: JP21H05174
                Categories
                Original Article
                Original Articles
                Custom metadata
                2.0
                March 2023
                Converter:WILEY_ML3GV2_TO_JATSPMC version:6.4.3 mode:remove_FC converted:15.05.2024

                22q11.2 deletion syndrome,anxiety,caregiver,educational,medical,welfare

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