[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 …
adolescents with 22q11. 2 deletion syndrome (22q11. 2DS). The 22q11. 2 Society, the …
Annual Research Review: Anterior Modifiers in the Emergence of Neurodevelopmental Disorders (AMEND)—a systems neuroscience approach to common …
We present the Anterior Modifiers in the Emergence of Neurodevelopmental Disorders
(AMEND) framework, designed to reframe the field of prospective studies of …
(AMEND) framework, designed to reframe the field of prospective studies of …
Using common genetic variation to examine phenotypic expression and risk prediction in 22q11. 2 deletion syndrome
RW Davies, AM Fiksinski, EJ Breetvelt, NM Williams… - Nature medicine, 2020 - nature.com
Abstract The 22q11. 2 deletion syndrome (22q11DS) is associated with a 20–25% risk of
schizophrenia. In a cohort of 962 individuals with 22q11DS, we examined the shared …
schizophrenia. In a cohort of 962 individuals with 22q11DS, we examined the shared …
Genotype–phenotype associations in children with copy number variants associated with high neuropsychiatric risk in the UK (IMAGINE-ID): a case-control cohort …
Background Several copy number variants (CNVs) are associated with a high risk of
neurodevelopmental and psychiatric disorders (referred to as ND-CNVs). We aimed to …
neurodevelopmental and psychiatric disorders (referred to as ND-CNVs). We aimed to …
ENIGMA‐DTI: Translating reproducible white matter deficits into personalized vulnerability metrics in cross‐diagnostic psychiatric research
The ENIGMA‐DTI (diffusion tensor imaging) workgroup supports analyses that examine the
effects of psychiatric, neurological, and developmental disorders on the white matter …
effects of psychiatric, neurological, and developmental disorders on the white matter …
[HTML][HTML] Neurodevelopmental trajectories and psychiatric morbidity: lessons learned from the 22q11. 2 deletion syndrome
Abstract Purpose of Review The 22q11. 2 deletion syndrome (22q11DS) is associated with
a broad spectrum of neurodevelopmental phenotypes and is the strongest known single …
a broad spectrum of neurodevelopmental phenotypes and is the strongest known single …
[HTML][HTML] Cognitive deficits in childhood, adolescence and adulthood in 22q11. 2 deletion syndrome and association with psychopathology
S Morrison, SJRA Chawner… - Translational …, 2020 - nature.com
Abstract 22q11. 2 Deletion Syndrome (22q11. 2DS) is associated with high risk of
psychiatric disorders and cognitive impairment. It remains unclear to what extent key …
psychiatric disorders and cognitive impairment. It remains unclear to what extent key …
Epilepsy and seizures in young people with 22q11. 2 deletion syndrome: Prevalence and links with other neurodevelopmental disorders
Objective The true prevalence of epileptic seizures and epilepsy in 22q11. 2 deletion
syndrome (22q11. 2 DS) is unknown, because previous studies have relied on historical …
syndrome (22q11. 2 DS) is unknown, because previous studies have relied on historical …
Neurodevelopmental outcome in 22q11. 2 deletion syndrome and management
A Swillen, E Moss, S Duijff - … Journal of Medical Genetics Part A, 2018 - Wiley Online Library
The 22q11. 2 deletion syndrome (22q11. 2 DS) places affected individuals at an increased
risk for neurodevelopmental/cognitive, behavioral and social–emotional difficulties. Poor …
risk for neurodevelopmental/cognitive, behavioral and social–emotional difficulties. Poor …
Sleep problems and associations with psychopathology and cognition in young people with 22q11. 2 deletion syndrome (22q11. 2DS)
BackgroundYoung people with 22q11. 2 deletion syndrome (22q11. 2DS) are at high risk for
neurodevelopmental disorders. Sleep problems may play a role in this risk but their …
neurodevelopmental disorders. Sleep problems may play a role in this risk but their …