Adolescent with 22q11.2 Microdeletion Syndrome, Cognitive Delay, Autism Spectrum Disorder and Psychotic Features

Alda Mira Coelho; Sofia Dória

doi:doi:10.11648/j.ajpn.20231101.14

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Adolescent with 22q11.2 Microdeletion Syndrome, Cognitive Delay, Autism Spectrum Disorder and Psychotic Features

Alda Mira Coelho, Sofia Dória

Published in American Journal of Psychiatry and Neuroscience (Volume 11, Issue 1)

Received: 18 December 2022 Accepted: 17 February 2023 Published: 15 March 2023

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Abstract

Microdeletion 22q11.2 syndrome (22q11.2DS) is a common microdeletion syndrome, also described as DiGeorge syndrome (DGS). It has a prevalence estimated to be within 1 per 2148 livebirths. Eighty-four percent of the children with 22q11DS had at least one psychiatric disorder, including autism spectrum disorder (ASD), schizophrenia, neurocognitive delay and other neuropsychiatric disorders. Sometimes is not easy to detect psychiatric diagnosis in developmental disorders, so it is important to look for psychiatric symptoms, etiological factors and clinical report about child development, including parent’s perceptions. We present a female adolescent patient with a mild cognitive delay, and underdiagnosed ASD, that had a microdeletion 22q11.2 Syndrome, identified at the first year of life. She was evaluated in psychiatric consultation only at 15 years, for psychotic symptomatology. At that time some ASD features were identified, and lately confirmed, with parental information and psychological evaluation instruments, like Autism Diagnostic Interview Revised (ADI-R). This paper aims to alert to the possibility of confluence of 22q11.2DS with ASD and psychotic symptoms, at the same time. We also want to enhance the importance of a multidisciplinary team in developmental disorders, paying attention to developmental report and parents ‘information, which may possibility early intervention and an accurate diagnosis.

Published in	American Journal of Psychiatry and Neuroscience (Volume 11, Issue 1)
DOI	10.11648/j.ajpn.20231101.14
Page(s)	30-33
Creative Commons	This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited.
Copyright	Copyright © The Author(s), 2023. Published by Science Publishing Group

Keywords

Autism, Psychotic Features, 22q11DS, Cognitive Impairment, Diagnostic Problems

References

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[2]	Meneses, Z., Durant, J., & Ale, H. The Unique Experience of a New Multidisciplinary Program for 22q Deletion and Duplication Syndromes in a Community Hospital in Florida: A Reaffirmation That Multidisciplinary Care Is Essential for Best Outcomes in These Patients. Genes, 2022: 13 (11), 1949. https://doi.org/10.3390/genes13111949
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[4]	Oskarsdóttir S, Vujic M, Fasth A. (2004) Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden. Archives of disease in childhood, 89 (2), 148–151. https://doi.org/10.1136/adc.2003.026880
[5]	McDonald-McGinn DM, Hain HS, Emanuel BS, Zackai EH (2020) 22q11.2 Deletion Syndrome. 1999 Sep 23 [Updated 2020 Feb 27]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1523
[6]	Serur Y, Sofrin Frumer D, Daon K, Sobol-Havia D, Weinberger R, Shulman C, & Gothelf D (2019) Psychiatric disorders and autism in young children with 22q11.2 deletion syndrome compared to children with idiopathic autism. Eur Psychiatry: the journal of the Association of European Psychiatrists 55: 116-121. DOI: 10.1016/j.eurpsy.2018.10.007.
[7]	Fiksinski AM, Breetvelt EJ, Duijff SN, Bassett AS, Kahn RS, Vorstman JAS (2017) Autism Spectrum and psychosis risk in the 22q11.2 deletion syndrome. Findings from a prospective longitudinal study. Schizophr Res. 188: 59-62. doi: 10.1016/j.schres.2017.01.03.
[8]	Riggs ER, Andersen EF, Cherry AM, Kantarci S, Kearney H, Patel A, et al. Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genetics in Medicine 2020; 22: 245–57. https://doi.org/10.1038/s41436-019-0686-8.
[9]	Serur, Y., Sher-Censor, E., Sofrin-Frumer, D. et al. Parental Expressed Emotion, Parenting Stress, and Behavioral Problems of Young Children with 22q11.2 Deletion Syndrome and Idiopathic Autism Spectrum Disorder. Child Psychiatry Hum Dev (2022).
[10]	Snihirova, Y., Linden, D. E. J., van Amelsvoort, T., & van der Meer, D. (2022). Environmental Influences on the Relation between the 22q11.2 Deletion Syndrome and Mental Health: A Literature Review. Genes, 13 (11), 2003. https://doi.org/10.3
[11]	Nehme, R., Pietiläinen, O., Artomov, M., Tegtmeyer, M., Valakh, V., Lehtonen, L., Bell, C., Singh, T., Trehan, A., Sherwood, J., Manning, D., Peirent, E., Malik, R., Guss, E. J., Hawes, D., Beccard, A., Bara, A. M., Hazelbaker, D. Z., Zuccaro, E., Genovese, G., Eggan, K. (2022). The 22q11.2 region regulates presynaptic gene-products linked to schizophrenia. Nature communications, 13 (1), 3690.
[12]	Cleynen, I., Engchuan, W., Hestand, M. S., Heung, T., Holleman, A. M., Johnston, H. R., Monfeuga, T., McDonald-McGinn, D. M., Gur, R. E., Morrow, B. E., Swillen, A., Vorstman, J. A. S., Bearden, C. E., Chow, E. W. C., van den Bree, M., Emanuel, B. S., Vermeesch, J. R., Warren, S. T., Owen, M. J., Chopra, P., Bassett, A. S. (2021). Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion. Molecular psychiatry, 26 (8), 4496–4510.
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APA Style

Alda Mira Coelho, Sofia Dória. (2023). Adolescent with 22q11.2 Microdeletion Syndrome, Cognitive Delay, Autism Spectrum Disorder and Psychotic Features. American Journal of Psychiatry and Neuroscience, 11(1), 30-33. https://doi.org/10.11648/j.ajpn.20231101.14

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ACS Style

Alda Mira Coelho; Sofia Dória. Adolescent with 22q11.2 Microdeletion Syndrome, Cognitive Delay, Autism Spectrum Disorder and Psychotic Features. Am. J. Psychiatry Neurosci. 2023, 11(1), 30-33. doi: 10.11648/j.ajpn.20231101.14

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AMA Style

Alda Mira Coelho, Sofia Dória. Adolescent with 22q11.2 Microdeletion Syndrome, Cognitive Delay, Autism Spectrum Disorder and Psychotic Features. Am J Psychiatry Neurosci. 2023;11(1):30-33. doi: 10.11648/j.ajpn.20231101.14

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@article{10.11648/j.ajpn.20231101.14,
  author = {Alda Mira Coelho and Sofia Dória},
  title = {Adolescent with 22q11.2 Microdeletion Syndrome, Cognitive Delay, Autism Spectrum Disorder and Psychotic Features},
  journal = {American Journal of Psychiatry and Neuroscience},
  volume = {11},
  number = {1},
  pages = {30-33},
  doi = {10.11648/j.ajpn.20231101.14},
  url = {https://doi.org/10.11648/j.ajpn.20231101.14},
  eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ajpn.20231101.14},
  abstract = {Microdeletion 22q11.2 syndrome (22q11.2DS) is a common microdeletion syndrome, also described as DiGeorge syndrome (DGS). It has a prevalence estimated to be within 1 per 2148 livebirths. Eighty-four percent of the children with 22q11DS had at least one psychiatric disorder, including autism spectrum disorder (ASD), schizophrenia, neurocognitive delay and other neuropsychiatric disorders. Sometimes is not easy to detect psychiatric diagnosis in developmental disorders, so it is important to look for psychiatric symptoms, etiological factors and clinical report about child development, including parent’s perceptions. We present a female adolescent patient with a mild cognitive delay, and underdiagnosed ASD, that had a microdeletion 22q11.2 Syndrome, identified at the first year of life. She was evaluated in psychiatric consultation only at 15 years, for psychotic symptomatology. At that time some ASD features were identified, and lately confirmed, with parental information and psychological evaluation instruments, like Autism Diagnostic Interview Revised (ADI-R). This paper aims to alert to the possibility of confluence of 22q11.2DS with ASD and psychotic symptoms, at the same time. We also want to enhance the importance of a multidisciplinary team in developmental disorders, paying attention to developmental report and parents ‘information, which may possibility early intervention and an accurate diagnosis.},
 year = {2023}
}

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TY  - JOUR
T1  - Adolescent with 22q11.2 Microdeletion Syndrome, Cognitive Delay, Autism Spectrum Disorder and Psychotic Features
AU  - Alda Mira Coelho
AU  - Sofia Dória
Y1  - 2023/03/15
PY  - 2023
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DO  - 10.11648/j.ajpn.20231101.14
T2  - American Journal of Psychiatry and Neuroscience
JF  - American Journal of Psychiatry and Neuroscience
JO  - American Journal of Psychiatry and Neuroscience
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PB  - Science Publishing Group
SN  - 2330-426X
UR  - https://doi.org/10.11648/j.ajpn.20231101.14
AB  - Microdeletion 22q11.2 syndrome (22q11.2DS) is a common microdeletion syndrome, also described as DiGeorge syndrome (DGS). It has a prevalence estimated to be within 1 per 2148 livebirths. Eighty-four percent of the children with 22q11DS had at least one psychiatric disorder, including autism spectrum disorder (ASD), schizophrenia, neurocognitive delay and other neuropsychiatric disorders. Sometimes is not easy to detect psychiatric diagnosis in developmental disorders, so it is important to look for psychiatric symptoms, etiological factors and clinical report about child development, including parent’s perceptions. We present a female adolescent patient with a mild cognitive delay, and underdiagnosed ASD, that had a microdeletion 22q11.2 Syndrome, identified at the first year of life. She was evaluated in psychiatric consultation only at 15 years, for psychotic symptomatology. At that time some ASD features were identified, and lately confirmed, with parental information and psychological evaluation instruments, like Autism Diagnostic Interview Revised (ADI-R). This paper aims to alert to the possibility of confluence of 22q11.2DS with ASD and psychotic symptoms, at the same time. We also want to enhance the importance of a multidisciplinary team in developmental disorders, paying attention to developmental report and parents ‘information, which may possibility early intervention and an accurate diagnosis.
VL  - 11
IS  - 1
ER  -

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Author Information

Alda Mira Coelho

Child and Adolescent Psychiatry, Faculty of Medicine, University of Porto, Porto, Portugal
Sofia Dória

Unit of Genetics, Department of Pathology, Faculty of Medicine, University of Porto, Porto, Portugal

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APA Style

Alda Mira Coelho, Sofia Dória. (2023). Adolescent with 22q11.2 Microdeletion Syndrome, Cognitive Delay, Autism Spectrum Disorder and Psychotic Features. American Journal of Psychiatry and Neuroscience, 11(1), 30-33. https://doi.org/10.11648/j.ajpn.20231101.14

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ACS Style

Alda Mira Coelho; Sofia Dória. Adolescent with 22q11.2 Microdeletion Syndrome, Cognitive Delay, Autism Spectrum Disorder and Psychotic Features. Am. J. Psychiatry Neurosci. 2023, 11(1), 30-33. doi: 10.11648/j.ajpn.20231101.14

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AMA Style

Alda Mira Coelho, Sofia Dória. Adolescent with 22q11.2 Microdeletion Syndrome, Cognitive Delay, Autism Spectrum Disorder and Psychotic Features. Am J Psychiatry Neurosci. 2023;11(1):30-33. doi: 10.11648/j.ajpn.20231101.14

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@article{10.11648/j.ajpn.20231101.14,
  author = {Alda Mira Coelho and Sofia Dória},
  title = {Adolescent with 22q11.2 Microdeletion Syndrome, Cognitive Delay, Autism Spectrum Disorder and Psychotic Features},
  journal = {American Journal of Psychiatry and Neuroscience},
  volume = {11},
  number = {1},
  pages = {30-33},
  doi = {10.11648/j.ajpn.20231101.14},
  url = {https://doi.org/10.11648/j.ajpn.20231101.14},
  eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ajpn.20231101.14},
  abstract = {Microdeletion 22q11.2 syndrome (22q11.2DS) is a common microdeletion syndrome, also described as DiGeorge syndrome (DGS). It has a prevalence estimated to be within 1 per 2148 livebirths. Eighty-four percent of the children with 22q11DS had at least one psychiatric disorder, including autism spectrum disorder (ASD), schizophrenia, neurocognitive delay and other neuropsychiatric disorders. Sometimes is not easy to detect psychiatric diagnosis in developmental disorders, so it is important to look for psychiatric symptoms, etiological factors and clinical report about child development, including parent’s perceptions. We present a female adolescent patient with a mild cognitive delay, and underdiagnosed ASD, that had a microdeletion 22q11.2 Syndrome, identified at the first year of life. She was evaluated in psychiatric consultation only at 15 years, for psychotic symptomatology. At that time some ASD features were identified, and lately confirmed, with parental information and psychological evaluation instruments, like Autism Diagnostic Interview Revised (ADI-R). This paper aims to alert to the possibility of confluence of 22q11.2DS with ASD and psychotic symptoms, at the same time. We also want to enhance the importance of a multidisciplinary team in developmental disorders, paying attention to developmental report and parents ‘information, which may possibility early intervention and an accurate diagnosis.},
 year = {2023}
}

Copy | Download

TY  - JOUR
T1  - Adolescent with 22q11.2 Microdeletion Syndrome, Cognitive Delay, Autism Spectrum Disorder and Psychotic Features
AU  - Alda Mira Coelho
AU  - Sofia Dória
Y1  - 2023/03/15
PY  - 2023
N1  - https://doi.org/10.11648/j.ajpn.20231101.14
DO  - 10.11648/j.ajpn.20231101.14
T2  - American Journal of Psychiatry and Neuroscience
JF  - American Journal of Psychiatry and Neuroscience
JO  - American Journal of Psychiatry and Neuroscience
SP  - 30
EP  - 33
PB  - Science Publishing Group
SN  - 2330-426X
UR  - https://doi.org/10.11648/j.ajpn.20231101.14
AB  - Microdeletion 22q11.2 syndrome (22q11.2DS) is a common microdeletion syndrome, also described as DiGeorge syndrome (DGS). It has a prevalence estimated to be within 1 per 2148 livebirths. Eighty-four percent of the children with 22q11DS had at least one psychiatric disorder, including autism spectrum disorder (ASD), schizophrenia, neurocognitive delay and other neuropsychiatric disorders. Sometimes is not easy to detect psychiatric diagnosis in developmental disorders, so it is important to look for psychiatric symptoms, etiological factors and clinical report about child development, including parent’s perceptions. We present a female adolescent patient with a mild cognitive delay, and underdiagnosed ASD, that had a microdeletion 22q11.2 Syndrome, identified at the first year of life. She was evaluated in psychiatric consultation only at 15 years, for psychotic symptomatology. At that time some ASD features were identified, and lately confirmed, with parental information and psychological evaluation instruments, like Autism Diagnostic Interview Revised (ADI-R). This paper aims to alert to the possibility of confluence of 22q11.2DS with ASD and psychotic symptoms, at the same time. We also want to enhance the importance of a multidisciplinary team in developmental disorders, paying attention to developmental report and parents ‘information, which may possibility early intervention and an accurate diagnosis.
VL  - 11
IS  - 1
ER  -

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