[HTML][HTML] Updated clinical practice recommendations for managing children with 22q11. 2 deletion syndrome

S Oskarsdottir, E Boot, TB Crowley, JCY Loo… - Genetics in …, 2023 - Elsevier
This review aimed to update the clinical practice guidelines for managing children and
adolescents with 22q11. 2 deletion syndrome (22q11. 2DS). The 22q11. 2 Society, the …

[HTML][HTML] Updated clinical practice recommendations for managing adults with 22q11. 2 deletion syndrome

E Boot, S Oskarsdottir, JCY Loo, TB Crowley… - Genetics in …, 2023 - Elsevier
This review aimed to update the clinical practice guidelines for managing adults with 22q11.
2 deletion syndrome (22q11. 2DS). The 22q11. 2 Society recruited expert clinicians …

Speech-language disorders in 22q11. 2 deletion syndrome: best practices for diagnosis and management

CB Solot, D Sell, A Mayne, AL Baylis, C Persson… - American journal of …, 2019 - ASHA
Purpose Speech and language disorders are hallmark features of 22q11. 2 deletion
syndrome (22qDS). Learning disabilities, cognitive deficits, palate abnormalities …

Typical features of Parkinson disease and diagnostic challenges with microdeletion 22q11. 2

E Boot, NJ Butcher, S Udow, C Marras, KY Mok… - Neurology, 2018 - AAN Enterprises
Objective To delineate the natural history, diagnosis, and treatment response of Parkinson
disease (PD) in individuals with 22q11. 2 deletion syndrome (22q11. 2DS), and to determine …

22q11. 2 deletion syndrome–associated Parkinson's disease

E Boot, AS Bassett, C Marras - Movement disorders clinical …, 2019 - Wiley Online Library
Abstract Background 22q11. 2 deletion syndrome (22q11. 2DS) is a multisystem condition
associated with an increased risk of early‐onset Parkinson's disease (PD). Methods We …

Ocular findings in 22q11. 2 deletion syndrome: A systematic literature review and results of a Dutch multicenter study

ENMM von Scheibler… - American Journal of …, 2022 - Wiley Online Library
Abstract The 22q11. 2 deletion syndrome (22q11. 2DS) is a multisystem disorder with an
estimated prevalence of 1: 3000 live births. Manifestations show a marked variability in …

Different Types of Deletions Created by Low-Copy Repeats Sequences Location in 22q11. 2 Deletion Syndrome: Genotype–Phenotype Correlation

EC Gavril, R Popescu, I Nucă, CG Ciobanu, LI Butnariu… - Genes, 2022 - mdpi.com
The most frequent microdeletion, 22q11. 2 deletion syndrome (22q11. 2DS), has a wide and
variable phenotype that causes difficulties in diagnosis. 22q11. 2DS is a contiguous gene …

Contiguous Gene Syndromes and Hearing Loss: A Clinical Report of Xq21 Deletion and Comprehensive Literature Review

MT Bonati, A Feresin, P Prontera, P Michieletto… - Genes, 2024 - mdpi.com
Given the crucial role of the personalized management and treatment of hearing loss (HL),
etiological investigations are performed early on, and genetic analysis significantly …

[HTML][HTML] Increased central auditory gain and decreased parvalbumin-positive cortical interneuron density in the Df1/+ mouse model of schizophrenia correlate with …

FA Zinnamon, FG Harrison, SS Wenas, Q Liu… - … Psychiatry Global Open …, 2023 - Elsevier
Background Hearing impairment is a risk factor for schizophrenia. Patients with 22q11. 2
deletion syndrome have a 25% to 30% risk of schizophrenia, and up to 60% also have …

Hearing loss and history of otolaryngological conditions in adults with microdeletion 22q11. 2

ENMM von Scheibler… - American Journal of …, 2024 - Wiley Online Library
Previous studies have shown that the 22q11. 2 microdeletion, associated with 22q11. 2
deletion syndrome (22q11. 2DS), conveys an increased risk of chronic otitis media, and …