Craniofacial dysmorphology in Swedish schizophrenia patients

Kelly, Brendan D.; Lane, Abbie; Agartz, Ingrid; Henriksson, Karin; McNeil, Thomas F.

doi:10.1111/j.1600-0447.2004.00473.x

Cited by 17 publications

(11 citation statements)

References 21 publications

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“…This atypical deletion does not include the HYDIN paralog by FISH (data not shown), and the head circumference of this individual is within the normal range. Our results are particularly of note in light of the recent finding of an association between 1q21.1 deletions and schizophrenia4,5, and the recognition of smaller head circumference and facial dysmorphic features among some schizophrenic individuals16–18.…”

supporting

confidence: 62%

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

et al. 2008

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Chromosome region 1q21.1 contains extensive and complex low-copy repeats, and copy number variants (CNVs) in this region have recently been reported in association with congenital heart defects1, developmental delay2,3, schizophrenia and related psychoses4,5. We describe 21 probands with the 1q21.1 microdeletion and 15 probands with the 1q21.1 microduplication. These CNVs were inherited in most of the cases in which parental studies were available. Consistent and statistically significant features of microcephaly and macrocephaly were found in individuals with micro-deletion and microduplication, respectively. Notably, a paralog of the HYDIN gene located on 16q22.2 and implicated in autosomal recessive hydrocephalus6 was inserted into the 1q21.1 region during the evolution of Homo sapiens7; we found this locus to be deleted or duplicated in the individuals we studied, making it a probable candidate for the head size abnormalities observed. We propose that recurrent reciprocal microdeletions and microduplications within 1q21.1 represent previously unknown genomic disorders characterized by abnormal head size along with a spectrum of developmental delay, neuropsychiatric abnormalities, dysmorphic features and congenital anomalies. These phenotypes are subject to incomplete penetrance and variable expressivity.

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supporting

confidence: 62%

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

et al. 2008

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“…Although the Waldrop scale is currently the most widely used tool to assess dysmorphology in schizophrenia, its low sensitivity and lack of construct validity make it problematic. To address some of these deficits, a handful of studies have begun to incorporate anthropometric methods in order to generate quantitative descriptions of the head and face in schizophrenic individuals (Lane et al, 1997, Hennessey et al, 2004Kelly et al, 2005). Although results to date have been inconsistent, this approach is likely to yield a wealth of information about the nature of dysmorphology in schizophrenia.…”

Section: Discussionmentioning

confidence: 99%

Minor physical anomalies in schizophrenia: A meta-analysis

Weinberg

Jenkins

Marazita

et al. 2007

Schizophrenia Research

112

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Numerous studies report an increased frequency of minor physical anomalies (MPAs) in schizophrenic individuals compared with controls. However, these studies vary considerably regarding the magnitude of the case-control disparity and the topographical distribution of the anomalies. A meta-analysis was carried out on the existing MPA literature in an effort to better understand the relationship between MPAs and schizophrenia. Following a literature search, 13 studies were identified that met our inclusion criteria. Mean total MPA scores were available for 11 of these studies, whereas only seven studies provided regional MPA scores. For both the total MPA and regional MPA analyses, pooled effect sizes (Hedges' g and pooled odds ratios, respectively) were calculated along with tests of heterogeneity. For the total MPA analyses, a meta-regression approach was used to explore the relationship between possible moderator variables (e.g., number of MPA scale items) and effect size heterogeneity. The magnitude of the pooled effect size for the total MPA scores was high (1.131; p < 0.001), indicating significantly more overall MPAs in schizophrenic individuals. Significant effect size heterogeneity was present (p < 0.001); however, this heterogeneity could not be explained by any of the included moderator variables. The regional MPA analysis revealed significantly increased MPAs in all six anatomical regions (p < 0.05), although the pooled odds ratios for these regions did not differ significantly from one another. These results suggest a lack of regional specificity for MPAs in schizophrenia.

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“…The total samples include 298 psychosis patients and 103 controls, with good representation throughout the adult age span of both sexes. The studies of Ismail et al (1998), Kelly et al (2005), and Lane et al (1997) have previously shown strong associations between MPA and schizophrenia, while the Nesvåg et al study (unpublished observations) constitutes preliminary results from ongoing research. If Lloyd et al's conclusions are correct and generalizable, one would predict increasing MPA rates with increasing age among both patients and controls and no difference in frequencies in MPA rates in schizophrenia versus control subjects of the same age.…”

mentioning

confidence: 96%

“…All controls were free of mental illness. More information can be obtained from the corresponding references (Lane et al 1997 ;Ismail et al 1998 ;Kelly et al 2005) and the first author of the Nesvåg et al study.…”

mentioning

confidence: 99%