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Transcript of Issues and Challenges in XYY Syndrome · issues and challenges in xyy syndrome erin torres msn,...
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Issues and Challenges in XYY Syndrome
ERIN TORRES MSN, CRNP-PMHDEVELOPMENTAL NEUROGENOMICS UNIT, NIMHNATIONAL INSTITUTES OF HEALTHBETHESDA, MD, USA
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Objectives
▶ Discuss the profile of mental health issues present in a large clinical research sample of individuals with XYY syndrome
▶ Discuss the wide range of presentations seen in youth with XYY syndrome▶ Discuss the priorities for future research on the profile of developmental
and mental issues in individuals with XYY syndrome
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Sex Chromosome Aneuploidy
▶ Typically there are 22 pairs of chromosomes plus one pair of sex chromosomes (X,Y)
▶ 47, XYY-males have an extra Y chromosome
▶ Mosaic vs non-mosaic
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Sex Chromosome Aneuploidy
▶ Typically there are 22 pairs of chromosomes plus one pair of sex chromosomes (X,Y)
▶ 47, XYY-males have an extra Y chromosome
▶ Mosaic vs non-mosaic
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Sex Chromosome Aneuploidy
▶ Typically there are 22 pairs of chromosomes plus one pair of sex chromosomes (X,Y)
▶ 47, XYY-males have an extra Y chromosome
▶ Mosaic vs non-mosaic
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XYY
• Occurs in about 1 out of 1,000 newborn males• Believed that many men with XYY are undiagnosed• Increased amount of fetuses are being diagnosed due to increased
amount of prenatal testing
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First Reports …
▶ 1959 47, XYY first identified▶ Early studies falsely associated XYY with violent crime▶ 1965 Patricia Jacobs conducted a research study examining XYY males in
institutional settings▶ State Hospital in Scotland-high number of men with XYY
▶ Careful studies of XYY began in 1976 with Witkin et al
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Key Findings Since …
▶ Birth cohorts (low ascertainment bias, but few individuals + measures)1
▶ Self-referred (ascertainment bias, but more individuals and measures)
VIQ PIQ Motor and language delay/difficulties”temper tantrums”
GOOD REVIEWS: 1. Leggett et al, Dev Med Child Neurol, 2010 | 2. Hong et al, Lancert Neurology, 2014
Raised rates of ..Motor and language difficultiesADHD and “externalizing disorders” (e.g. oppositional defiant disorder)Difficulties in social interaction and Autism Spectrum Disorder diagnoses
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Key Findings Since …
▶ Birth cohorts (low ascertainment bias, but few individuals + measures)1
▶ Non birth cohorts (ascertainment bias, but more individuals and measures)
VIQ PIQ Motor and language delay/difficulties”temper tantrums”
GOOD REVIEWS: 1. Leggett et al, Dev Med Child Neurol, 2010 | 2. Hong et al, Lancert Neurology, 2014
Raised rates of ..Motor and language difficultiesADHD and “externalizing disorders” (e.g. oppositional defiant disorder)Difficulties in social interaction and Autism Spectrum Disorder diagnoses
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X And Y Chromosome Variation Development Study At NIH
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Families From North America and Europe
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Participants seen so far
Demographics:
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Our Research Program
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Talking About Differences:We all have strengths and weaknesses
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Milestones and Cognitive Development
IQ
Prenatal Post’
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Milestones and Cognitive Development
IQ
Prenatal PostnatalDiagnosis Timing
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K-SADS
Schedule for Affective Disorders and Schizophrenia for School Aged Children
▶ Assessment completed with parent/guardian and child
▶ Current Diagnoses▶ Past Diagnoses
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Neurodevelopment And Mental Health
DIAGNOSIS Previous [N (% of 65)] KSADS [N (% of 65)]
Autism Spectrum Disorder 20 (31%) 9 (14%)
Tic Disorder 4 (6%) 10 (15%)
Attention Deficit Hyperactivity Disorder
35 (54%) 43 (66%)
Oppositional Defiant Disorder 6 (9%) 4 (6%)
Mood Disorder 9 (14%) 11 (17%)
Anxiety Disorder 11 (17%) 6 (9%)
Obsessive Compulsive Spectrum Disorder1 (1%) 2 (3%)
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Neurodevelopment And Mental Health
DIAGNOSIS KSADSPrenatal Diagnosis [n (% of 24) Postnatal Diagnosis [n (% of 41)
Autism Spectrum Disorder 1 (4%) 8 (19%)
Tic Disorder 1 (4%) 9 (22%)
Attention Deficit Hyperactivity Disorder
17 (71%) 26 (63%)
Oppositional Defiant Disorder - 4 (10%)
Mood Disorder 5 (21%) 6 (15%)
Anxiety Disorder 1 (4%) 5 (12%)
Obsessive Compulsive Spectrum Disorder- 2 (5%)
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Neurodevelopment And Mental Health
DIAGNOSIS KSADS DIAGNOSES
FULL ONLY [n (% of 65) FULL or PARTIAL [n (% of 65)Autism Spectrum Disorder 9 (14%) N/A
Tic Disorder 10 (15%) 14 (22%)
Attention Deficit Hyperactivity Disorder43 (66%) 50 (77%)
Oppositional Defiant Disorder4 (6%) 10 (15%)
Mood Disorder 11 (17%) 20 (31%)
Anxiety Disorder 6 (9%) 19 (30%)
Obsessive Compulsive Spectrum Disorder2 (3%) 4 (6%)
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Autism Spectrum Disorder (ASD)
▶ Persistent deficits in social communication and social interaction across multiple contexts
▶ Restricted repetitive patterns of behavior, interests or activities▶ Symptoms must have been present during early developmental period▶ Symptoms cause clinically significant impairment in social, occupational
or other important areas of functioning
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ASD in XYY
▶ Social Communication deficits▶ Difficulty socializing with peers
▶ Repetitive behaviors▶ Difficulty with change▶ Preoccupation with a certain object or subject
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Attention Deficit Hyperactivity Disorder (ADHD)
▶ A persistent pattern of inattention and/or hyperactivity-impulsivity that interferes with functioning or development▶ 1 Inattention must have 6 or more symptoms present for at least 6 months
▶ 2 Hyperactivity and impulsivity must have 6 or more symptoms present for at least 6 months
▶ Several symptoms present before 12▶ Symptoms present in 2 or more settings▶ Clearly interfere with functioning
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ADHD in XYY
Inattentive• Difficult to engage
• Loses focus
• Unable to follow multiple step instructions
Hyperactive/Impulsive • Unable to sit through a meal
• Doing before thinking
• Fidgety or restless
Combined • Having symptoms from both
categories that cause an impairment in functioning
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Tic Disorders
Motor Tic• Uncontrollable muscle
movements• frequent eye blinking
• raising eyebrows
• scrunching up nose
• shrugging shoulders
Vocal Tic• Uncontrolled noises
• clearing throat
• sniffing
• grunting
• animal sounds
Tourette’s • Both motor and vocal tics
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Tics in XYY
▶ Motor tic▶ Mouth movements
▶ Vocal tic▶ Sniffing
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▶ Oppositional behaviors▶ Irritable Mood▶ Tantrums
Behavioral Difficulties
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Recommendations
▶ Individualized Education Plan▶ Speech therapy▶ Social Skills groups
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Next Steps-
▶ UNDERSTAND VARIABLITY
IQ
Prenatal PostnatalDiagnosis Timing
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Next Steps-
▶ UNDERSTAND VARIABLITY▶ FROM CATEGORIES TO DIMENSIONS
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Next Steps-
▶ UNDERSTAND VARIABLITY▶ FROM CATEGORIES TO DIMENSIONS▶ FROM BRAIN TO BEHAVIOR
XYY>XYXYY<XYCortical thickness
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Next Steps-
▶ UNDERSTAND VARIABLITY▶ FROM CATEGORIES TO DIMENSIONS▶ FROM BRAIN TO BEHAVIOR▶ FROM GENES TO BRAIN TO BEHAVIOR
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Next Steps-
▶ UNDERSTAND VARIABLITY▶ FROM CATEGORIES TO DIMENSIONS▶ FROM BRAIN TO BEHAVIOR▶ FROM GENES TO BRAIN TO BEHAVIOR▶ EXTENDING THIS SYSTEMATIC
APPROACH TO ALL X-/Y-CHROMOSOME VARIATIONS
XY, XYY, XXY, XXYY, XXXY, XXXXY, …
XX, XXX, XXXX, …
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Developmental Neurogenomics UnitArmin Raznahan, MD, PhD Erin Torres, CRNP-PMH Francois Lalonde, PhD Catherine Mankiw, AB Ari Fish, BS David Lee
Jonathan Blumenthal, MA Liv Clausen, PhD Jakob Seidlitz, BS Anastasia Xenophontos, BS Kirk Reardon, AB
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Thank you!!!
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References
▶ Bardsley, M. Z., Kowal, K., Levy, C., Gosek, A., Ayari, N., Tartaglia, N., . . . Ross, J. L. (2013). 47,XYY Syndrome: Clinical Phenotype and Timing of Ascertainment. The Journal of Pediatrics, 163(4), 1085-1094. doi:10.1016/j.jpeds.2013.05.037
▶ Benn, P., Cuckle, H., & Pergament, E. (2013). Non-invasive prenatal testing for aneuploidy: current status and future prospects. Ultrasound in Obstetrics & Gynecology, 42(1), 15-33. doi:10.1002/uog.12513
▶ Cover, Virginia Isaacs, MSW. Living with Klinefelter Syndrome (47,XXY) Trisomy X (47,XXX) and 47, XYY. New York: Virginia Isaacs Cover, 2012.
▶ Lalatta, Faustina, Emanuela Folliero, Ugo Cavallari, Marina Di Segni, Barbara Gentilin, Roberto Fogliani, Donatella Quagliarini, Paola Vizziello, Federico Monti, and Luigi Gargantini. "Early Manifestations in a Cohort of Children Prenatally Diagnosed with 47,XYY. Role of Multidisciplinary Counseling for Parental Guidance and Prevention of Aggressive Behavior." Ital J Pediatr Italian Journal of Pediatrics 38.1 (2012): 52. Web.
▶ Leggett, V., Jacobs, P., Nation, K., Scerif, G., & Bishop, D. V. (2010). Neurocognitive outcomes of individuals with a sex chromosome trisomy: XXX, XYY, or XXY: a systematic review*. Developmental Medicine & Child Neurology, 52(2), 119-129. doi:10.1111/j.1469-8749.2009.03545.x
▶ Re, L., & Birkhoff, J. M. (2015). The 47,XYY syndrome, 50 years of certainties and doubts: A systematic review. Aggression and Violent Behavior, 22, 9-17. doi:10.1016/j.avb.2015.02.003
▶ Ross, J. L., N. Tartaglia, D. E. Merry, M. Dalva, and A. R. Zinn. "Behavioral Phenotypes in Males with XYY and Possible Role of Increased NLGN4Y Expression in Autism Features." Genes, Brain and Behavior 14.2 (2015): 137-44.
▶ Stochholm, K., A. Bojesen, A. S. Jensen, S. Juul, and C. H. Gravholt. "Criminality in Men with Klinefelter's Syndrome and XYY Syndrome: A Cohort Study." BMJ Open 2.1 (2012)
▶ Witkin, H., Mednick, S., Schulsinger, F., Bakkestrom, E., Christiansen, K., Goodenough, D., . . . Stocking, M. (1976). Criminality in XYY and XXY men. Science,193(4253), 547-555. doi:10.1126/science.959813