Neurodevelopment Archives - The Association for X and Y Chromosome Variations

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.”

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.”

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.”