Minor physical anomalies in familial and sporadic schizophrenia: the Maudsley family study

Abstract

Objectives-(1) To test the hypothesis that minor physical anomalies are increased in patients with schizophrenia and (2) to investigate diVerences in the prevalence of minor physical anomalies in patients with familial and sporadic schizophrenia and their first degree relatives. Methods-A weighted Waldrop assessment was carried out on 214 subjects in five groups: schizophrenic patients from multiply aVected families; first degree relatives of these familial schizophrenic patients; sporadic schizophrenic patients; first degree relatives of these sporadic schizophrenic patients, and normal controls. Broad and narrow criteria for abnormality were defined based on the distribution of minor physical anomalies in the control group. Results-(1) The total schizophrenic group did not have a significant increase in minor physical anomalies using a narrow criterion of abnormality, but did when a broader criterion was used. (2) A significant increase in the proportion of subjects with an abnormally high number of minor physical abnormalities was shown in the group of sporadic schizophrenic patients (uncorrected p<0.01). Separate analyses for males and females showed a significant increase in the male sporadic group (uncorrected p<0.05), and a smaller non-significant increase in the female sporadic group. Neither the familial schizophrenic group nor either group of first degree relatives showed any significant increases in the proportion of patients with high abnormality scores. Conclusion-This work supports prenatal developmental abnormality as a mechanism for sporadic, but not familial, schizophrenia. (J Neurol Neurosurg Psychiatry 1998;64:56-60)

Reduced posterior nasal cavity volume: A gender-specific neurodevelopmental abnormality in schizophrenia

“…While some studies have reported the presence of minor physical anomalies in unaffected relatives of schizophrenia patients (Gourion et al, 2004), others have failed to observe such abnormalities, even among unaffected twins from discordant monozygotic twin pairs (Cantor-Graae et al, 1994). Consistent with this latter finding, the Maudsley family study reported an increased prevalence of minor physical anomalies among sporadic cases of schizophrenia, but not among patients with a family history of illness (Griffiths et al, 1998). Our finding that the otherwise healthy first-degree relatives of patients did not have reduced nasal volumes is similarly consistent with the hypothesis that this is an environmentally mediated abnormality.…”

“…With respect to minor physical anomalies, there is some evidence, based on qualitative rating scales, that these are more prominent in male, rather than female, schizophrenia patients (Akabaliev and Sivkov, 2003;Griffiths et al, 1998). Importantly, the prevalence of such anomalies also appears to be greater in healthy males, compared to healthy females (Akabaliev and Sivkov, 2003).…”

22q11 deletion syndrome: a genetic subtype of schizophrenia

“…In addition to major features (see Table 1), minor dysmorphic features are common in 22qDS (Bassett et al 1998;Goldberg et al 1993;Lipson et al 1991). Several of these, such as high arched palate, overlap with the minor physical abnormalities usually assessed in studies of schizophrenia (Green et al 1989;Griffiths et al 1998;Guy et al 1983;O'Callaghan et al 1991). Interestingly, physical features seen in 22qDS are similar to many of those listed by Kraepelin (Kraepelin 1971) as common in schizophrenia: "small stature, youthful appearance, malformation of the cranium and of the ears, high and narrow palate, persistence of the intermaxillary bone, abnormal growth of hair, strabismus, deformities of the fingers or toes, polymastia, defective development and irregularity of the teeth.…”

Subtyping schizophrenia: implications for genetic research

“…[160][161][162] Sporadic cases are more likely to be winter-born 159,163,164 and have more electroencephalographic (EEG) abnormalities 153 and enlarged ventricles on CT scan or MRI. 152,165,166 Familial cases, on the other hand, have more neurological signs, 164,[167][168][169] poorer sustained attention performance; 170 cortical abnormalities on MRI 171 and reduced temporoparietal resting regional blood flow. 172 By and large, the F/S classification has not been successful in identifying homogeneous phenotype groups for genetic research.…”