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Behavioral phenotype of 49,XXXXY syndrome: Presence of anxiety-related symptoms and intact social awareness.
Am J Med Genet A. 2020 05; 182(5):974-986.AJ

Abstract

49,XXXXY is a rare X and Y chromosome variation that occurs in 1:85,000 to 1:100,000 live male births and is notable for variable motor, speech, and behavioral deficits. Case studies have described boys with this disorder as shy, impulsive, and aggressive with low frustration tolerances; however, previous studies have been limited due to cohort size. This study reports on the largest cohort of boys with 49,XXXXY to date with an emphasis on the prevalence of anxiety-related symptoms and sociability from preschool to adolescence. The Child Behavior Checklist, Behavior Rating Inventory of Executive Function, 2nd edition, and Social Responsiveness Scale, 2nd edition were completed by parents on a cohort of 69. The cohort demonstrated deficits in social cognition and communication beginning in preschool, however, presented with consistent social awareness and motivation for social activities not previously appreciated in this disorder. In addition, signs of anxiety presented during preschool years and increased in severity with age, particularly in internalizing problems. Boys with 49,XXXXY presented with wide behavioral variability across all ages and domains. Further research into the potential influences of culture, birth order, biological treatment, and frequency of services is needed to better define the behavioral phenotype of children with this disorder.

Authors+Show Affiliations

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

Pub Type(s)

Journal Article

Language

eng

PubMed ID

32083381

Citation

Lasutschinkow, Patricia C., et al. "Behavioral Phenotype of 49,XXXXY Syndrome: Presence of Anxiety-related Symptoms and Intact Social Awareness." American Journal of Medical Genetics. Part A, vol. 182, no. 5, 2020, pp. 974-986.
Lasutschinkow PC, Gropman AL, Porter GF, et al. Behavioral phenotype of 49,XXXXY syndrome: Presence of anxiety-related symptoms and intact social awareness. Am J Med Genet A. 2020;182(5):974-986.
Lasutschinkow, P. C., Gropman, A. L., Porter, G. F., Sadeghin, T., & Samango-Sprouse, C. A. (2020). Behavioral phenotype of 49,XXXXY syndrome: Presence of anxiety-related symptoms and intact social awareness. American Journal of Medical Genetics. Part A, 182(5), 974-986. https://doi.org/10.1002/ajmg.a.61507
Lasutschinkow PC, et al. Behavioral Phenotype of 49,XXXXY Syndrome: Presence of Anxiety-related Symptoms and Intact Social Awareness. Am J Med Genet A. 2020;182(5):974-986. PubMed PMID: 32083381.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Behavioral phenotype of 49,XXXXY syndrome: Presence of anxiety-related symptoms and intact social awareness. AU - Lasutschinkow,Patricia C, AU - Gropman,Andrea L, AU - Porter,Grace F, AU - Sadeghin,Teresa, AU - Samango-Sprouse,Carole A, Y1 - 2020/02/21/ PY - 2019/09/16/received PY - 2020/01/02/revised PY - 2020/01/23/accepted PY - 2020/2/23/pubmed PY - 2021/1/13/medline PY - 2020/2/22/entrez KW - 49,XXXXY KW - X and Y chromosomal variations KW - anxiety disorders KW - behavioral dysfunction KW - communication deficits KW - sex chromosome abnormalities and aneuploidies SP - 974 EP - 986 JF - American journal of medical genetics. Part A JO - Am J Med Genet A VL - 182 IS - 5 N2 - 49,XXXXY is a rare X and Y chromosome variation that occurs in 1:85,000 to 1:100,000 live male births and is notable for variable motor, speech, and behavioral deficits. Case studies have described boys with this disorder as shy, impulsive, and aggressive with low frustration tolerances; however, previous studies have been limited due to cohort size. This study reports on the largest cohort of boys with 49,XXXXY to date with an emphasis on the prevalence of anxiety-related symptoms and sociability from preschool to adolescence. The Child Behavior Checklist, Behavior Rating Inventory of Executive Function, 2nd edition, and Social Responsiveness Scale, 2nd edition were completed by parents on a cohort of 69. The cohort demonstrated deficits in social cognition and communication beginning in preschool, however, presented with consistent social awareness and motivation for social activities not previously appreciated in this disorder. In addition, signs of anxiety presented during preschool years and increased in severity with age, particularly in internalizing problems. Boys with 49,XXXXY presented with wide behavioral variability across all ages and domains. Further research into the potential influences of culture, birth order, biological treatment, and frequency of services is needed to better define the behavioral phenotype of children with this disorder. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/32083381/Behavioral_phenotype_of_49XXXXY_syndrome:_Presence_of_anxiety_related_symptoms_and_intact_social_awareness_ DB - PRIME DP - Unbound Medicine ER -