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View article: Autistic traits in youth with familial adenomatous polyposis: A Dutch–Canadian case–control study
Autistic traits in youth with familial adenomatous polyposis: A Dutch–Canadian case–control study Open
This study investigated the neurodevelopmental impact of pathogenic adenomatous polyposis coli ( APC ) gene variants in patients with familial adenomatous polyposis (FAP), a cancer predisposition syndrome. We hypothesized that certain path…
View article: Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome
Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome Open
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 international scientific organization studying chromosome 22q11.2 diffe…
View article: Within-family influences on dimensional neurobehavioral traits in a high-risk genetic model
Within-family influences on dimensional neurobehavioral traits in a high-risk genetic model Open
Background Genotype-first and within-family studies can elucidate factors that contribute to psychiatric illness. Combining these approaches, we investigated the patterns of influence of parental scores, a high-impact variant, and schizoph…
View article: Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome
Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome Open
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 schizophrenia-related early trajectory p…
View article: A cognitive decline precedes the onset of psychosis in patients with the 22q11.2 deletion syndrome
A cognitive decline precedes the onset of psychosis in patients with the 22q11.2 deletion syndrome Open
Patients with 22q11.2 deletion syndrome (22q11DS) have an elevated (25%) risk for developing schizophrenia. Recent reports have suggested that a subgroup of children with 22q11DS display a substantial decline in cognitive abilities, starti…
View article: The 22q11.2 deletion syndrome as a model for idiopathic scoliosis – A hypothesis
The 22q11.2 deletion syndrome as a model for idiopathic scoliosis – A hypothesis Open
Adolescent idiopathic scoliosis (AIS), defined as a lateral deviation of the spine of at least ten degrees, is a classic enigma in orthopaedics and affects 1-4% of the general population. Despite (over) a century of intensive research, the…
View article: Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects
Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects Open
The 22q11.2 deletion syndrome is caused by non‐allelic homologous recombination events during meiosis between low copy repeats (LCR22) termed A, B, C, and D. Most patients have a typical LCR22A‐D (AD) deletion of 3 million base pairs (Mb).…
View article: Understanding the pediatric psychiatric phenotype of 22q11.2 deletion syndrome
Understanding the pediatric psychiatric phenotype of 22q11.2 deletion syndrome Open
The purpose of this article is to provide an overview of current insights into the neurodevelopmental and psychiatric manifestations of 22q11.2 deletion syndrome (22q11DS) in children and adolescents. The pediatric neuropsychiatric express…
View article: F72. NEUROCOGNITION AND ADAPTIVE FUNCTIONING IN THE 22Q11.2 DELETION SYNDROME MODEL OF SCHIZOPHRENIA
F72. NEUROCOGNITION AND ADAPTIVE FUNCTIONING IN THE 22Q11.2 DELETION SYNDROME MODEL OF SCHIZOPHRENIA Open
Identifying factors that influence functional outcome is an important goal in schizophrenia research. These factors, including overall cognitive functioning (IQ) and more specific domains of neurocognitive functioning, may not only aid in …
View article: S132. A NORMATIVE CHART FOR THE TRAJECTORY OF COGNITIVE FUNCTIONING IN INDIVIDUALS AT HIGH RISK FOR SCHIZOPHRENIA: LONGITUDINAL FINDINGS FROM THE INTERNATIONAL BRAIN AND BEHAVIOR CONSORTIUM ON 22Q11.2 DELETION SYNDROME
S132. A NORMATIVE CHART FOR THE TRAJECTORY OF COGNITIVE FUNCTIONING IN INDIVIDUALS AT HIGH RISK FOR SCHIZOPHRENIA: LONGITUDINAL FINDINGS FROM THE INTERNATIONAL BRAIN AND BEHAVIOR CONSORTIUM ON 22Q11.2 DELETION SYNDROME Open
In schizophrenia, a decline in cognitive functioning often precedes the onset of the first psychotic episode by many years. We have previously shown this to be the case for individuals with 22q11.2 deletion syndrome (22q11DS), a genetic va…