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Autism Spectrum Disorder Associated with 48,XXYY: Case Report of a Rare Clinical Syndrome

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References

  • Borja-Santos, N., Trancas, B., Pinto, S. P., Lopes, B., Gamito, A., Almeida, S., Ferreira, B., Luengo, A., Vieira, C., Martinho, J., Pereira, B., & Cardoso, G. (2010). 48, XXYY in a general adult psychiatry department. Psychiatry (edgemont), 7(3), 32–36.

    Google Scholar 

  • Lord, C., Rutter, M., DiLavore, P. C., Risi, S., Gotham, K., & Bishop, S. (2012). Autism diagnostic observation schedule, second edition manual (part II): Toddler module. Western Psychological Services.

    Google Scholar 

  • Sreedhar, A., Feden, D., Perilli, G., Nair, R., & Magaji, V. (2015). 48,XXYY genotype: Case report of a rare clinical syndrome. Journal of Endocrinology and Diabetes, 3(1), 1–3. https://doi.org/10.15226/2374-6890/3/1/00139

    Article  Google Scholar 

  • Tartaglia, N., Davis, S., Hench, A., Nimishakavi, S., Beauregard, R., Reynolds, A., Fenton, L., Albrecht, L., Ross, J., Visootsak, J., Hansen, R., & Hagerman, R. (2008). A new look at XXYY syndrome: Medical and psychological features. American Journal of Medical Genetics, 146A(12), 1509–1522. https://doi.org/10.1002/ajmg.a.32366

    Article  PubMed  Google Scholar 

  • Tartaglia, R. N., Wilson, R., Miller, S. J., Rafalko, J., Cordeiro, L., Davis, S., Hessl, D., & Ross, J. (2017). Autism spectrum disorder in males with sex chromosome aneuploidy: XXY/klinefelter syndrome, XYY, and XXYY. Journal of Developmental and Behavioral Pediatrics, 38(3), 197–207. https://doi.org/10.1097/DBP.0000000000000429

    Article  PubMed  PubMed Central  Google Scholar 

  • Visootsak, J., & Graham, M. J. (2009). Social function in multiple X and Y chromosome disorders: XXY, XYY, XXYY XXXY. Developmental Disabilities Research Reviews, 15(4), 328–332. https://doi.org/10.1002/ddrr.76

    Article  PubMed  PubMed Central  Google Scholar 

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Funding

No funding was received to assist with the preparation of this manuscript.

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Authors and Affiliations

  1. Department of Child and Adolescent Psychiatry, Coimbra Hospital and University Centre (CHUC), Coimbra, Portugal

    Cristina C. Silva

  2. Department of Psychiatry, Coimbra Hospital and University Centre (CHUC), Praceta Prof. Mota Pinto, 3000-075, Coimbra, Portugal

    Sofia Morais & Nuno G. G. F. Madeira

  3. Institute of Psychological Medicine, Faculty of Medicine, University of Coimbra (UC), Coimbra, Portugal

    Sofia Morais & Nuno G. G. F. Madeira

  4. Department of Psychology, Coimbra Hospital and University Centre (CHUC), Coimbra, Portugal

    Graça Areias & Maria S. Meneses

  5. Family Health Unit (USF Fernando Namora), Condeixa, Coimbra, Portugal

    Christopher R. C. Ramos

Authors
  1. Cristina C. Silva
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  2. Sofia Morais
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  3. Graça Areias
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  4. Maria S. Meneses
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  5. Nuno G. G. F. Madeira
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  6. Christopher R. C. Ramos
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Contributions

CCS and SM conceived the original idea. Material preparation, data collection and analysis were performed by CCS and SM. GA and MSM applied the Autism Diagnostic Observation Schedule, 2nd edition (ADOS-2) and Wechsler Adult Intelligence Scale, 3rd edition (WAIS-III), respectively, and aided in interpreting the results. The first draft of the manuscript was written by CCS with later review by SM, NGGFM and CRCR. All authors provided critical feedback and contributed to the final version of the manuscript.

Corresponding author

Correspondence to Cristina C. Silva.

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Conflict of interest

The authors have no conflicts of interest to disclose.

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Written informed consent was obtained from the patient and his caregiver (mother) for the publication of personal images and medical data. The consent form is kept with the patient’s clinical notes and available for review.

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Silva, C.C., Morais, S., Areias, G. et al. Autism Spectrum Disorder Associated with 48,XXYY: Case Report of a Rare Clinical Syndrome. J Autism Dev Disord 52, 3755–3757 (2022). https://doi.org/10.1007/s10803-021-05239-7

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  • DOI: https://doi.org/10.1007/s10803-021-05239-7

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