Article Text

  1. J. J. Visootsak1,
  2. B. Rosner2,
  3. E. Dykens3,
  4. N. Tartaglia4,
  5. J. M. Graham5
  1. 1Department of Human Genetics and Pediatrics, Emory University, Atlanta, GA
  2. 2Neuropsychiatric Institute, David Geffen School of Medicine at UCLA, Los Angeles, CA
  3. 3JFK Center for Research on Human Development, Vanderbilt University, Nashville, TN
  4. 4MIND Institute, UC Davis, Sacramento, CA
  5. 5Cedars-Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA


Background Sex chromosomal aneuploidy is the most common disorder of sex chromosomes in humans, with an incidence of 1 in 400 newborns. The addition of more than one extra X and/or Y chromosome to a normal male karyotype of 46,XY is less frequent and has its own distinctive behavioral profile. This study is the first to investigate the effects of increasing number of extra Xs and Y on behavioral phenotypes and specific treatment strategies are suggested for anticipatory guidance.

Objectives To examine the behavioral similarities and differences of males with 48,XXYY compared to 48,XXXY and 49,XXXXY.

Methods Participants in this study consisted of two groups: 11 males with 48,XXYY (mean age 21.83) and 13 males with 48,XXXY and 49,XXXXY (mean age 21.08). All families completed comprehensive neuropsychological questionnaires: Vineland Adaptive Behavioral Scales, Child Behavior Checklist and Reiss Personality Profiles.

Results On the Vineland Adaptive Behavioral Scales, males with 48,XXYY score higher than males with 48,XXXY and 49,XXXXY in daily living skills, communication, and socialization. The communication domain is the lowest in both groups. Internalizing and externalizing behaviors are higher in males with 48,XXYY (p < .5) based on the Child Behavior Checklist. On the Reiss Personality Profiles, 48,XXYY subjects show elevated scores in anxiety, frustration, order, and vengeance domains (p < .5) compared to 48,XXXY and 49,XXXXY.

Conclusions 48,XXYY subjects have higher overall adaptive scales in daily living skills, socialization, and communication. Males with 48,XXXY and 49,XXXXY are lower functioning cognitively compared to 48,XXYY since each X reduces the overall IQ by 15 points. Both groups have early language deficits that result in significant lower scores in the communication domain. Their primary communicative problems may result in maladaptive behaviors by both groups, although 48,XXYY males are at a higher risk. These findings reveal distinctive differences in both groups and may provide insights for specific early intervention and anticipatory guidance strategies.

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