Assessment of the frequency of the 22q11 deletion in Afrikaner schizophrenic patients

Wiehahn, G. J.; Bosch, Girard; Preez, R. R. Du; Pretorius, H.W.; Karayiorgou, Maria; Roos, J.L.

doi:10.1002/ajmg.b.20168

Cited by 40 publications

(37 citation statements)

References 15 publications

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“…c In the study of Wiehahn et al (2004), 85 patients with schizophrenia were only subjected to FISH when they met two or more positive screening criteria for 22q11DS. Six patients met these criteria and were tested by FISH; two were found to have a deletion on the 22q11 locus.…”

Section: Discussionmentioning

confidence: 99%

Prevalence of 22q11.2 deletions in 311 Dutch patients with schizophrenia

Hoogendoorn

Vorstman

Jalali

et al. 2008

Schizophrenia Research

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The objectives of this study were 1) to examine whether the prevalence of 22q11.2 deletion syndrome (22q11DS) in schizophrenia patients with the Deficit syndrome is higher than the reported ~2% for the population of schizophrenia patients as a whole, and 2) to estimate the overall prevalence of 22q11DS among schizophrenia patients by combining all available studies. Our sample, enriched for patients with the Deficit syndrome, had 88% power to detect an estimated prevalence of 5% of 22q11.2 deletions. No 22q11.2 deletions were detected in 311 schizophrenia patients, 146 of whom met criteria for the Deficit syndrome. Our literature research revealed that in eight studies sixteen deletions were identified in 2133 patients with schizophrenia. This corresponds to a prevalence of 0.75% (95%CI: 0.5%-1.2%). In conclusion: The prevalence of 22q11.2DS in schizophrenia patients with the Deficit syndrome is not higher than in the population of schizophrenia patients as a whole. The prevalence of 22q11.2DS in schizophrenia patients is lower than the frequently reported prevalence of 2% or more.

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Section: Discussionmentioning

confidence: 99%

Prevalence of 22q11.2 deletions in 311 Dutch patients with schizophrenia

Hoogendoorn

Vorstman

Jalali

et al. 2008

Schizophrenia Research

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“…Schizophrenia associated with 22q11 deletion syndrome (22qDS) is the only identifiable subtype currently available that is likely to have greater etiologic homogeneity than general population samples of schizophrenia (Bassett et al, 2001;Bassett et al, 2003). 22qDS, also known as velocardiofacial syndrome, is a genetic syndrome associated with detectable microdeletions in chromosome 22q11.2 which affects 1-2% of patients with schizophrenia (Karayiorgou et al, 1995;Wiehahn et al, 2004). Recently, we have demonstrated that the core positive and negative symptoms in 22qDS-schizophrenia are similar to those in other forms of schizophrenia .…”

Section: Introductionmentioning

confidence: 99%

Neurocognitive profile in 22q11 deletion syndrome and schizophrenia

Chow

Watson

Young

et al. 2006

Schizophrenia Research

169

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Objective-Schizophrenia is associated with neurocognitive deficits, but its etiologic heterogeneity may complicate the delineation of a neurocognitive profile. Schizophrenia associated with 22q11 Deletion Syndrome (22qDS) represents a more genetically homogeneous subtype for study. We hypothesized that in adults with 22qDS the neurocognitive profiles would differ between those with and without schizophrenia.Method-Using a comprehensive battery of tests, we compared the neurocognitive performance profiles in those with schizophrenia (n=27; 14 M, 13 F; mean age=30.6 years, SD=7.7 years) and those with no history of psychosis (n=29; 16 M, 13 F; mean age=25.0 years, SD=9.0 years).Results-The 22qDS groups with and without schizophrenia had similar mean estimated IQ (71.6, SD=8.2 and 74.8, SD=6.1, respectively) and academic achievement, however the neurocognitive profiles of the two groups differed significantly on multivariate analysis (F(24,31)=2.25, p=0.017). The group with schizophrenia performed significantly more poorly on tests of motor skills, verbal learning, and social cognition (effect sizes≥0.8) after correction for multiple comparisons. Other tests, but not the attentional measures used, showed nominally significant differences.Conclusions-In adults with 22qDS, the pattern of neurocognitive differences between those with and without schizophrenia appears similar to that between patients with schizophrenia and controls. Attentional dysfunction may be a more general feature of 22qDS. The findings support 22qDS-schizophrenia as a genetic model for neurodevelopmental investigations of schizophrenia.

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“…A 22q11DS is a multisystem genetic syndrome associated with a microdeletion at 22q11.2 on one chromosome 22 and high risk for schizophrenia. Recent studies indicate the prevalence of schizophrenia in 22q11DS is 23%-25% (Bassett et al 2005;Murphy et al 1999), and 1%-2% of patients with schizophrenia have 22q11DS (Horowitz et al 2005;Karayiorgou et al 1995;Wiehahn et al 2004). Core symptoms, age at onset, and neurocognitive profile of schizophrenia in 22q11DS appear typical, but on average general intellectual level is lower and excitement and impulsivity may be more prominent (Bassett et al 1998(Bassett et al , 2003Chow et al 2006).…”

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confidence: 99%