Neurodevelopment Archives - The Association for X and Y Chromosome Variations

DNA hypomethylation at specific CG-sites within TRAK1 is linked to the neurocognitive profile in Klinefelter syndrome

Article Title: DNA hypomethylation at specific CG-sites within TRAK1 is linked to the neurocognitive profile in Klinefelter syndrome

Authors: Tallaksen, Hasselholm, Berletch, Filippova, Deng, Van Dyke, MacDonald, Bammler, Chang, Buskbjerg, Gravholt, Disteche, Just, and Skakkebæk

Date of Publication: September 30, 2025

“Here, we present a comprehensive and integrative analysis of the neurocognitive profile and the methylome in KS, aiming to investigate the link between specific neurocognitive traits (processing speed, working memory, visual performance, verbal memory and learning, verbal fluency and comprehension, verbal performance, and executive functions) and DNA methylation patterns, and to identify potential epigenetic biomarkers of neurocognitive function in KS.”

Rick Frith2025-12-02T16:32:44-05:00Categories: 47,XXY (Klinefelter)|Tags: DNA methylation, Neurodevelopment|

Quantifying the Spectrum of Early Motor and Language Milestones in Sex Chromosome Trisomy

Article Title: Quantifying the Spectrum of Early Motor and Language Milestones in Sex Chromosome Trisomy

Authors: Thompson, Bothwell, Janusz, Wilson, Howell, Davis, Swenson, Martin, Kowal, Ikomi, Despradel, Ross, and Tartaglia

Date of Publication: November 2025

“As increasing numbers of infants with prenatal SCT diagnoses present at pediatric practices, we provide an evidence-based schedule of milestone achievement in SCT as a tool for pediatricians and families. Detailed data on SCT milestones can support clinical interpretation of milestone achievement. Increased variability and later median age of milestone acquisition in SCT compared with norms support consideration of all infants with SCT as high risk.”

Rick Frith2025-11-21T12:46:14-05:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY|Tags: Developmental milestones, Early Intervention, Neurodevelopment|

Executive Dysfunction in Klinefelter Syndrome: Associations With Brain Activation and Testicular Failure

Article Title: Executive Dysfunction in Klinefelter Syndrome: Associations With Brain Activation and Testicular Failure

Authors: Foland-Ross, Ghasemi, Lozano Wun, Aye, Kowal, Ross, and Reiss

Date of Publication: August 18, 2023

“These findings indicate a neural basis for executive dysfunction in KS and suggest alterations in pubertal development may contribute to increased severity of this cognitive weakness. Future studies that examine whether these patterns change with testosterone replacement therapy are warranted.”

Rick Frith2023-11-29T12:03:35-05:00Categories: 47,XXY (Klinefelter)|Tags: Executive Function, Neurodevelopment|

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|

Understanding the phenotypic spectrum and family experiences of XYY syndrome: Important considerations for genetic counseling

Article Title: Understanding the phenotypic spectrum and family experiences of XYY syndrome: Important considerations for genetic counseling

Authors: Jodarski, Duncan, Torres, Gore, Raznahan, and Similuk

Date of Publication: January 7, 2023

“XYY syndrome is a diagnosis that has significant implications on not only the affected individual, but the family as well. It is therefore imperative that HCPs fully understand the range of lived experiences with XYY so that we can better counsel and care for affected individuals and their families.”

Rick Frith2023-04-13T11:03:45-04:00Categories: 47,XYY|Tags: Genetic counseling, Neurodevelopment, Psychosocial|