TY  - JOUR
A1  - Grünblatt, Edna
A1  - Oneda, Beatrice
A1  - Ekici, Arif B.
A1  - Ball, Juliane
A1  - Geissler, Julia
A1  - Uebe, Steffen
A1  - Romanos, Marcel
A1  - Rauch, Anita
A1  - Walitza, Susanne
T1  - High resolution chromosomal microarray analysis in paediatric obsessive-compulsive disorder
JF  - BMC Medical Genomics
N2  - Background
Obsessive-Compulsive Disorder (OCD) is a common and chronic disorder in which a person has uncontrollable, reoccurring thoughts and behaviours. It is a complex genetic condition and, in case of early onset (EO), the patients manifest a more severe phenotype, and an increased heritability. Large (>500 kb) copy number variations (CNVs) previously associated with autism and schizophrenia have been reported in OCD. Recently, rare CNVs smaller than 500 kb overlapping risk loci for other neurodevelopmental conditions have also been reported in OCD, stressing the importance of examining CNVs of any size range. The aim of this study was to further investigate the role of rare and small CNVs in the aetiology of EO-OCD.

Methods
We performed high-resolution chromosomal microarray analysis in 121 paediatric OCD patients and in 124 random controls to identify rare CNVs (>50 kb) which might contribute to EO-OCD.

Results
The frequencies and the size of the observed rare CNVs in the patients did not differ from the controls. However, we observed a significantly higher frequency of rare CNVs affecting brain related genes, especially deletions, in the patients (OR = 1.98, 95% CI 1.02–3.84; OR = 3.61, 95% CI 1.14–11.41, respectively). Similarly, enrichment-analysis of CNVs gene content, performed with three independent methods, confirmed significant clustering of predefined genes involved in synaptic/brain related functional pathways in the patients but not in the controls. In two patients we detected \(de-novo\) CNVs encompassing genes previously associated with different neurodevelopmental disorders \(\textit{NRXN1, ANKS1B, UHRF1BP1}\)).

Conclusions
Our results further strengthen the role of small rare CNVs, particularly deletions, as susceptibility factors for paediatric OCD.
KW  - Medicine
KW  - OCD
KW  - CNV
KW  - Enrichment analysis
KW  - De-novo
KW  - Early-onset
Y1  - 2017
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-172791
VL  - 10
IS  - 68
ER  - 
TY  - JOUR
A1  - Brem, Silvia
A1  - Grünblatt, Edna
A1  - Drechsler, Renate
A1  - Riederer, Peter
A1  - Walitza, Susanne
T1  - The neurobiological link between OCD and ADHD
JF  - Attention Deficit and Hyperactivity Disorders
N2  - Obsessive compulsive disorder (OCD) and attention deficit hyperactivity disorder (ADHD) are two of the most common neuropsychiatric diseases in paediatric populations. The high comorbidity of ADHD and OCD with each other, especially of ADHD in paediatric OCD, is well described. OCD and ADHD often follow a chronic course with persistent rates of at least 40–50 %. Family studies showed high heritability in ADHD and OCD, and some genetic findings showed similar variants for both disorders of the same pathogenetic mechanisms, whereas other genetic findings may differentiate between ADHD and OCD. Neuropsychological and neuroimaging studies suggest that partly similar executive functions are affected in both disorders. The deficits in the corresponding brain networks may be responsible for the perseverative, compulsive symptoms in OCD but also for the disinhibited and impulsive symptoms characterizing ADHD. This article reviews the current literature of neuroimaging, neurochemical circuitry, neuropsychological and genetic findings considering similarities as well as differences between OCD and ADHD.
KW  - OCD
KW  - ADHD
KW  - neuroimaging
KW  - genetics
KW  - neuropsychology
KW  - fMRI
KW  - MRI
KW  - EEG
KW  - neurobiology
Y1  - 2014
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-121312
VL  - 6
IS  - 3
ER  -