Neuropsychology Archives - The Association for X and Y Chromosome Variations

Clinical, Cognitive and Neurodevelopmental Profile in Tetrasomies and Pentasomies: A Systematic Review

Article Title: Clinical, Cognitive and Neurodevelopmental Profile in Tetrasomies and Pentasomies: A Systematic Review

Authors: Ricciardi, Cammisa, Bove, Picchiotti, Spaziani, Isidori, Aceti, Giacchetti, Romani, and Sogos

Date of Publication: November 9, 2022

“Our study aimed to analyse the neurocognitive, linguistic and behavioural profile of patients affected by supernumerary SCAs, specifically tetrasomy and pentasomy. We investigated the verbal abilities, both expressive and receptive, as well as the metalinguistic comprehension and attentive skills
of these patients.”

Rick Frith2023-11-16T13:25:08-05:00Categories: 48,XXXY, 48,XXYY, Other Variations|Tags: Neurodevelopment, Neuropsychology|

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.”

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.”

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.”

Rick Frith2023-03-07T12:36:08-05:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY, 48,XXYY|Tags: ADHD, Anxiety, Autism Spectrum Disorder, Cognition, Depression, Neuropsychiatry, Neuropsychology|

Supernumerary sex chromosome abnormalities – new developments and future trajectories

Article Title: Supernumerary sex chromosome abnormalities – new developments and future trajectories – A summary of the 2022 3rd International Workshop on Klinefelter syndrome, XYY and Trisomy X

Authors: Gravholt, Ferlin, Gromoll, Juul, Raznahan, Van Rijn, Rogol, Skakkebæk, Tartaglia, and Swaab

Date of Publication: January 4, 2023

“The 3rd International Workshop on Klinefelter Syndrome, Trisomy X, and 47,XYY syndrome was held in Leiden, the Netherlands, on September 12-14, 2022. Here, we review new data presented at the workshop and discuss scientific and clinical trajectories. We focus on shortcomings in knowledge and therefore point out future areas for research.”

Rick Frith2023-01-12T14:22:13-05:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY|Tags: Fertility, Hypogonadism, Neuropsychology, Osteoporosis, Testosterone treatment|

Neuropsychological functions, sleep, and mental health in adults with Klinefelter syndrome

Article Title: Neuropsychological functions, sleep, and mental health in adults with Klinefelter syndrome

Authors: Fjermestad, Huster, Thunberg, Stokke, Gravholt, and Solbakk

Date of Publication: April 29, 2020

“Altogether, men with KS display problems in neuropsychological functions and mental health but do not appear different from controls on most sleep parameters. Our findings indicate that relations between neuropsychological functions, sleep, and mental health differ between men with KS and controls.”

Rick Frith2020-05-25T14:56:13-04:00Categories: 47,XXY (Klinefelter)|Tags: Neuropsychology|