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Neurocognitive development and capabilities in boys with 49,XXXXY syndrome.
Am J Med Genet A. 2021 12; 185(12):3541-3546.AJ

Abstract

49,XXXXY was previously associated with profound to severe intellectual deficits. However, prior research papers on the cognitive profiles of this population were confounded by small samples sizes, wide age spreads, and incomplete histories of testosterone replacement therapy. This study is the first comprehensive, international investigation of the neurocognitive aspects of 49,XXXXY, and the potential effects of biological treatment on this profile. Sixty-seven boys from infancy to 11 years of age were enrolled in this longitudinal study, with the majority of boys postnatally diagnosed though chromosomal analysis. These boys received a comprehensive neurocognitive evaluation tailored to specific language-based deficits and cognitive challenges. Results revealed higher neurocognitive capacities, both verbally and nonverbally, than previously reported in this disorder. Infant boys with 49,XXXXY who received early hormonal therapy (EHT) had significantly higher scores on the cognitive domain of the Bayley Scales of Infant Development than untreated infants (p = .013). In addition, treated school-aged participants had significantly better scaled scores than untreated boys in form completion (p = .042), a task that requires deductive reasoning, on nonverbal testing on the Leiter International Performance Scales. This study indicates greater cognitive capacities with a wide range of abilities in the child with 49,XXXXY, thus warranting further investigation to identify and understand the critical influences on the etiology and the variability of those capacities.

Authors+Show Affiliations

Division of Neurogenetics and Developments Pediatrics, Children's National Health System, Washington, District of Columbia, USA. Department of Neurology, George Washington University, Washington, District of Columbia, USA.Research Department, The Focus Foundation, Davidsonville, Maryland, USA.Research Department, The Focus Foundation, Davidsonville, Maryland, USA.Research Department, The Focus Foundation, Davidsonville, Maryland, USA.Research Department, The Focus Foundation, Davidsonville, Maryland, USA.Department of Economics, George Washington University, Washington, District of Columbia, USA.Research Department, The Focus Foundation, Davidsonville, Maryland, USA. Department of Pediatrics, George Washington University, Washington, District of Columbia, USA. Department of Human and Molecular Genetics, Florida International University, Miami, Florida, USA.

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

32662248

Citation

Gropman, Andrea L., et al. "Neurocognitive Development and Capabilities in Boys With 49,XXXXY Syndrome." American Journal of Medical Genetics. Part A, vol. 185, no. 12, 2021, pp. 3541-3546.
Gropman AL, Porter GF, Lasutschinkow PC, et al. Neurocognitive development and capabilities in boys with 49,XXXXY syndrome. Am J Med Genet A. 2021;185(12):3541-3546.
Gropman, A. L., Porter, G. F., Lasutschinkow, P. C., Sadeghin, T., Tipton, E. S., Powell, S., & Samango-Sprouse, C. A. (2021). Neurocognitive development and capabilities in boys with 49,XXXXY syndrome. American Journal of Medical Genetics. Part A, 185(12), 3541-3546. https://doi.org/10.1002/ajmg.a.61736
Gropman AL, et al. Neurocognitive Development and Capabilities in Boys With 49,XXXXY Syndrome. Am J Med Genet A. 2021;185(12):3541-3546. PubMed PMID: 32662248.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Neurocognitive development and capabilities in boys with 49,XXXXY syndrome. AU - Gropman,Andrea L, AU - Porter,Grace F, AU - Lasutschinkow,Patricia C, AU - Sadeghin,Teresa, AU - Tipton,Elizabeth S, AU - Powell,Sherida, AU - Samango-Sprouse,Carole A, Y1 - 2020/07/14/ PY - 2019/12/12/received PY - 2020/06/05/accepted PY - 2020/7/15/pubmed PY - 2022/3/4/medline PY - 2020/7/15/entrez KW - 49,XXXXY KW - X and Y chromosomal variation KW - sex chromosome aneuploidies KW - variant of 47,XXY (Klinefelter syndrome) SP - 3541 EP - 3546 JF - American journal of medical genetics. Part A JO - Am J Med Genet A VL - 185 IS - 12 N2 - 49,XXXXY was previously associated with profound to severe intellectual deficits. However, prior research papers on the cognitive profiles of this population were confounded by small samples sizes, wide age spreads, and incomplete histories of testosterone replacement therapy. This study is the first comprehensive, international investigation of the neurocognitive aspects of 49,XXXXY, and the potential effects of biological treatment on this profile. Sixty-seven boys from infancy to 11 years of age were enrolled in this longitudinal study, with the majority of boys postnatally diagnosed though chromosomal analysis. These boys received a comprehensive neurocognitive evaluation tailored to specific language-based deficits and cognitive challenges. Results revealed higher neurocognitive capacities, both verbally and nonverbally, than previously reported in this disorder. Infant boys with 49,XXXXY who received early hormonal therapy (EHT) had significantly higher scores on the cognitive domain of the Bayley Scales of Infant Development than untreated infants (p = .013). In addition, treated school-aged participants had significantly better scaled scores than untreated boys in form completion (p = .042), a task that requires deductive reasoning, on nonverbal testing on the Leiter International Performance Scales. This study indicates greater cognitive capacities with a wide range of abilities in the child with 49,XXXXY, thus warranting further investigation to identify and understand the critical influences on the etiology and the variability of those capacities. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/32662248/Neurocognitive_development_and_capabilities_in_boys_with_49XXXXY_syndrome_ DB - PRIME DP - Unbound Medicine ER -