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The clinical course of individuals with 22q11.2 deletion syndrome converting to psychotic disorders: a long-term retrospective follow-up
This retrospective study aims to investigate the evolution and clinical course of psychotic disorders from three large international cohorts of individuals with 22q11.2 deletion syndrome (22q11.2DS) (Tel Aviv,...
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Open AccessSocial skills in neurodevelopmental disorders: a study using role-plays to assess adolescents and young adults with 22q11.2 deletion syndrome and autism spectrum disorders
Social skills are frequently impaired in neurodevelopmental disorders and genetic conditions, including 22q11.2 deletion syndrome (22q11DS) and autism spectrum disorders (ASD). Although often assessed with que...
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Open AccessResearch training in child and adolescent psychiatry: lack of motivation or a structural problem?
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Article
Open AccessChromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS
Congenital heart disease (CHD) affecting the conotruncal region of the heart, occurs in 40–50% of patients with 22q11.2 deletion syndrome (22q11.2DS). This syndrome is a rare disorder with relative genetic hom...
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Article
Open AccessAmygdala subdivisions exhibit aberrant whole-brain functional connectivity in relation to stress intolerance and psychotic symptoms in 22q11.2DS
The amygdala is a key region in emotional regulation, which is often impaired in psychosis. However, it is unclear if amygdala dysfunction directly contributes to psychosis, or whether it contributes to psycho...
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Open AccessCharacterizing Daily-Life Social Interactions in Adolescents and Young Adults with Neurodevelopmental Disorders: A Comparison Between Individuals with Autism Spectrum Disorders and 22q11.2 Deletion Syndrome
Social impairments are common features of 22q11.2 deletion syndrome (22q11DS) and autism spectrum disorders (ASD). The Ecological Momentary Assessment (EMA) allowed access to daily-life information in order to...
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Article
Correction to: Next generation Europe: a recovery plan for children, adolescents and their families
A correction to this paper has been published: https://doi.org/10.1007/s00787-021-01801-x
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Article
Open AccessContribution of schizophrenia polygenic burden to longitudinal phenotypic variance in 22q11.2 deletion syndrome
While the recurrent 22q11.2 deletion is one of the strongest genetic risk factors for schizophrenia (SCZ), variability of its associated neuropsychiatric endophenotypes reflects its incomplete penetrance for p...
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Article
Stimulant treatment effectiveness, safety and risk for psychosis in individuals with 22q11.2 deletion syndrome
This study aimed to retrospectively evaluate an association between stimulant treatment for attention-deficit/hyperactivity disorder (ADHD) in individuals with 22q11.2DS and the development of psychotic disord...
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Article
A normative chart for cognitive development in a genetically selected population
Certain pathogenic genetic variants impact neurodevelopment and cause deviations from typical cognitive trajectories. Understanding variant-specific cognitive trajectories is clinically important for informed ...
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Article
Open AccessImpact of the COVID-19 pandemic on mental health and family situation of clinically referred children and adolescents in Switzerland: results of a survey among mental health care professionals after 1 year of COVID-19
The aim of this study was to assess the impact of the COVID-19 pandemic on mental well-being of clinically referred children and adolescents and on their families from the perspective of mental health care pro...
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Open AccessEpisodic Future Thinking in Autism Spectrum Disorder and 22q11.2 Deletion Syndrome: Association with Anticipatory Pleasure and Social Functioning
Episodic future thinking (EFT) has been suggested to underlie anticipatory pleasure (AP), itself known to play a crucial role in social functioning (SF). Both AP and SF are impaired in various clinical populat...
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Open AccessAltered cortical thickness development in 22q11.2 deletion syndrome and association with psychotic symptoms
Schizophrenia has been extensively associated with reduced cortical thickness (CT), and its neurodevelopmental origin is increasingly acknowledged. However, the exact timing and extent of alterations occurring...
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Article
Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion
Schizophrenia occurs in about one in four individuals with 22q11.2 deletion syndrome (22q11.2DS). The aim of this International Brain and Behavior 22q11.2DS Consortium (IBBC) study was to identify genetic fact...
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Open AccessNext generation Europe: a recovery plan for children, adolescents and their families
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Open AccessLong-term effects of early treatment with SSRIs on cognition and brain development in individuals with 22q11.2 deletion syndrome
Cognitive deficits in individuals at risk of psychosis represent a significant challenge for research, as current strategies for symptomatic treatment are often ineffective. Recent studies showed that atypical...
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Article
Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome
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 genetic basis between schizophrenia and schizophre...
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Open AccessIdentifying neurodevelopmental anomalies of white matter microstructure associated with high risk for psychosis in 22q11.2DS
Disruptions of white matter microstructure have been widely reported in schizophrenia. However, the emergence of these alterations during preclinical stages remains poorly understood. 22q11.2 Deletion Syndrome...
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Article
Positive psychotic symptoms are associated with divergent developmental trajectories of hippocampal volume during late adolescence in patients with 22q11DS
Low hippocampal volume is a consistent finding in schizophrenia and across the psychosis spectrum. However, there is a lack of studies investigating longitudinal hippocampal development and its relationship wi...
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Potential effects of “social” distancing measures and school lockdown on child and adolescent mental health