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AXYS - The Association for X&Y Chromosome Variations
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ADHD

Deep phenotypic analysis of psychiatric features in genetically defined cohorts: application to XYY syndrome

Article Title: Deep phenotypic analysis of psychiatric features in genetically defined cohorts: application to XYY syndrome

Authors: Raznahan, Rau, Schaffer, Liu, Fish, Mankiw, Xenophontos, Clasen, Joseph, Thurm, Blumenthal, Bassett, and Torres

Date of Publication: February 20, 2023

“Across the full XYY group, we find a complex correlation between psychopathology and functioning such that the most severely impacted symptom domains are not necessarily those most predictive of adaptive functioning or caregiver strain. Finally, network modelling suggests 8 main axes of psychopathology in XYY syndrome, with core roles for overall symptom scores, inattention, and social difficulties.”

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Associations of psychiatric disorders with sex chromosome aneuploidies in the Danish iPSYCH2015 dataset: a case-cohort study

Article Title: Associations of psychiatric disorders with sex chromosome aneuploidies in the Danish iPSYCH2015 dataset: a case-cohort study

Authors: Sánchez, Montalbano, Vaez, Krebs, Byberg-Grauholm, Mortensen, Børglum, Hougaard, Nordentoft, Geschwind, Buil, Schork, Thompson, Raznahan, Helenius, Werge, and Ingason

Date of Publication: February 2023

“Increased risks of psychiatric disorders associated with sex chromosome aneuploidies, combined with low rates of clinical diagnosis of sex chromosome aneuploidies, compromise the adequate provision of necessary health care and counselling to affected individuals and their families, which might be helped by increased application of genetic testing in clinical settings.”

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Patterns of psychopathology and cognition in sex chromosome aneuploidy

Article Title: Patterns of psychopathology and cognition in sex chromosome aneuploidy

Authors: Rau, Whitman, Schauder, Gogate, Lee, Kenworthy, and Raznahan

Date of Publication: December 15, 2021

“There is domain-specific variation in psychopathology across SCA groups and domain-specific correlation between psychopathology and IQ within SCAs. These findings (i) help to tailor clinical assessment of this common and impactful family of genetic disorders and (ii) suggest that dosage abnormalities of X- and Y-linked genes impart somewhat distinct profiles of neuropsychiatric risk.”

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Early developmental impact of sex chromosome trisomies on ADHD symptomology in young children

Article Title: Early developmental impact of sex chromosome trisomies on attention deficit-hyperactivity disorder symptomology in young children

Authors: Kuiper, Swaab, Tartaglia, and van Rijn

Date of Publication: June 18, 2021

“Individuals with sex chromosome trisomies ([SCT], XXX, XXY, and XYY)) are at increased risk for neurodevelopmental problems, given that a significant portion of the sex chromosome genes impact brain functioning. An elevated risk for psychopathology has also been described, including attention deficit-hyperactivity disorder (ADHD). The present study aimed at identifying early markers of ADHD, providing the first investigation of ADHD symptomology in very young children with SCT.”

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2022-02-25T13:15:20-05:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY|Tags: |

Executive function in XXY: Comparison of performance-based measures and rating scales

Article Title: Executive function in XXY: Comparison of performance-based measures and rating scales

Authors: Janusz, Harrison, C. Boada, Cordeiro, Howell, Tartaglia, and R. Boada

Date of Publication: June 2020

“Few studies have systematically assessed executive functioning (EF) skills in boys with XXY, and these are limited by small samples and restricted EF assessment. This study used a broader battery of performance-based measures as well as parent-rating scales of EF in 77 boys and adolescents with XXY (mean age = 12.5 years), recruited from a clinical trial and an outpatient clinic. Exploratory factor analyses were used to create EF domains from performance-based measures, and similar domains were measured using the Behavior Rating Inventory of Executive Function and Conners Parent-Rating Scales. The boys with XXY showed a distinct EF profile, with the greatest deficit in attention and more moderate deficits in working memory, switching, and planning/ problem solving. Parent ratings showed similar challenges, as well as impaired inhibition. Independent sample t-tests showed no difference on performance measures between boys diagnosed or not diagnosed with attention-deficit/hyperactivity disorder (ADHD), although parents of boys diagnosed with ADHD reported more difficulties. There were no differences on performance-based tests between those diagnosed pre- and postnatally, although parents of postnatally diagnosed boys reported more metacognitive problems. Language deficits, cognition, and socio-economic status did not account for EF deficits.”

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2022-02-25T17:07:32-05:00Categories: 47,XXY (Klinefelter)|Tags: , |

Everything You Never Knew About the ADHD Brain

Article Title: Everything You Never Knew About the ADHD Brain

Author: Alison Kravit, PsyD, AAC

Date of Publication: July 2018

“Imagine hundreds of cars approaching an intersection that has no traffic light or stop sign. This is what happens to the ADHD brain every day where the prefrontal cortex (the intersection) is unable to properly regulate your various thoughts and feelings (the various cars approaching the intersection). Learn more about the ‘Intersection Model’ for ADHD.”

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2022-02-25T17:02:32-05:00Categories: All Variations|Tags: |

Secrets of the ADHD Brain: Why We Think, Act, and Feel the Way We Do

Article Title: Secrets of the ADHD Brain: Why We Think, Act, and Feel the Way We Do

Author: William Dodson, MD

Date of Publication: 2016

“ADHD is a confusing, contradictory, inconsistent, and frustrating condition. It is overwhelming to people who live with it every day…The Diagnostic and Statistical Manual of Mental Disorders has 18 criteria, and other symptom lists cite as many as 100 traits.”

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2022-02-25T17:03:03-05:00Categories: All Variations|Tags: |

The Brain-Behavior Connection In Children with ADHD

Article Title: The Brain-Behavior Connection In Children with ADHD

Author: Joel Nigg, PhD

Date of Publication: 2016

Presentation slides providing information on the neuroscience of attention and emotion as it relates to ADHD. The slides also offer a look at self-regulation of emotions and behavior in individuals with ADHD and how much variability there is in this condition from one child to the next.

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2022-02-25T17:03:54-05:00Categories: All Variations|Tags: |

AAP: Guideline Calls for Pre-K ADHD Evaluation

Article Title: AAP: Guideline Calls for Pre-K ADHD Evaluation

Author: Charles Bankhead

Date of Publication: October 16, 2011

Primary care physicians should begin evaluating children for attention deficit hyperactivity disorder (ADHD) at age 4 and continue through age 18, according to a new clinical guideline from the American Academy of Pediatrics.

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2022-02-25T17:04:44-05:00Categories: All Variations|Tags: |

ADHD Symptoms in Children and Adolescents with Sex Chromosome Aneuploidy: XXY, XXX, XYY, and XXYY

Article title: Attention-Deficit Hyperactivity Disorder Symptoms in Children and Adolescents with Sex Chromosome Aneuploidy: XXY, XXX, XYY, and XXYY

Authors: Nicole R. Tartaglia, MD, Natalie Ayari, BA, Christa Hutaff-Lee, PhD, Richard Boada, PhD

Date of Publication: May 2012

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Please share this article with your healthcare providers and with other professionals (therapists, school support staff and administrators, etc.).

2022-02-25T17:06:05-05:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY, 48,XXYY|Tags: |
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