Clinical characteristics of schizophrenia associated with velo-cardio-facial syndrome

Gothelf, Doron; Frisch, Amos; Munitz, Hanan; Rockah, Rivka; Laufer, Neil; Mozes, Tamar; Hermesh, Haggai; Weizman, Abraham; Frydman, Moshe

doi:10.1016/s0920-9964(98)00114-5

Cited by 86 publications

(55 citation statements)

References 19 publications

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“…This study and others (Gothelf et al, 1999;Murphy et al, 1999;Bassett et al, 2003) support 22qDS as a genetic subtype of schizophrenia, identifiable by its associated physical features, chromosomal abnormality and lower IQ. As for core clinical symptoms , 22qDS-schizophrenia does not appear to represent a distinct clinical subtype of the illness with respect to its neurocognitive profile.…”

Section: Qds-schizophrenia As An Etiologic Subtype Of Schizophreniasupporting

confidence: 76%

Neurocognitive profile in 22q11 deletion syndrome and schizophrenia

Chow

Watson

Young

et al. 2006

Schizophrenia Research

170

192

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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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Section: Qds-schizophrenia As An Etiologic Subtype Of Schizophreniasupporting

confidence: 76%

Neurocognitive profile in 22q11 deletion syndrome and schizophrenia

Chow

Watson

Young

et al. 2006

Schizophrenia Research

170

192

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“…Several (but not all) reports [7,10] have indicated that with respect to schizophrenia's major clinical features, 22qDS-schizophrenia is largely indistinguishable from other forms of schizophrenia [11]. Ascertainment may play a role in differences observed.…”

Section: Clinical Signs and Symptoms Of Schizophreniamentioning

confidence: 97%

“…Also, some evidence indicates that patients with 22qDS-schizophrenia may have neurobehavioral characteristics other than schizophrenia's core symptoms [14]. These include greater severity of excitement and impulsivity [12] that may be associated with the short-lived temper or emotional outbursts commonly observed in patients with 22qDS-schizophrenia [11,14]. These features are not those of manic episodes, in which there are more prolonged mood changes.…”

Section: Clinical Signs and Symptoms Of Schizophreniamentioning

confidence: 99%

Schizophrenia and 22q11.2 deletion syndrome

Bassett

Chow²

2008

Curr Psychiatry Rep

214

166

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Abstract22q11.2 deletion syndrome (22qDS) is a genetic syndrome associated with a chromosome 22q11.2 deletion and variable phenotypic expression that commonly includes schizophrenia. Approximately 1% of patients with schizophrenia have 22qDS. The schizophrenia in 22qDS appears broadly similar to that found in the general population with respect to core signs and symptoms, treatment response, neurocognitive profile, and MRI brain anomalies. However, individuals with a 22qDS form of schizophrenia typically have distinguishable physical features, have a lower IQ, and may differ in auxiliary clinical features. IQ, length of 22q11.2 deletions, and COMT functional allele do not appear to be major risk factors for schizophrenia in 22qDS.Ascertainment biases and small sample sizes are limitations of most studies. Larger studies over the lifespan and continuing education about this underrecognized condition are needed. 22qDS-schizophrenia is an important genetic subtype and a valuable model of neurodevelopmental mechanisms involved in the pathogenesis of schizophrenia.

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“…It is the most common microdeletion syndrome with an estimated prevalence of 1 in every 4,000 live births [4][5][6]. While the physical phenotype is variable, commonly reported features include characteristic facial dysmorphology, congenital heart disease, and cleft palate [7,8]. A characteristic behavioural phenotype in 22q11DS has also been described-with high rates of schizophrenia, attention deficit (hyperactivity) disorder (ADD, ADHD) [3,[8][9][10][11][12][13], autistic spectrum disorders, anxiety disorders, and emotional instability [12][13][14][15][16][17].…”

Section: Introductionmentioning

confidence: 99%

ISDN2014_0211: An fMRI study of facial emotion processing in children and adolescents with 22q11.2 deletion syndrome

Azuma

Deeley

Campbell

et al. 2015

Intl J of Devlp Neuroscience

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Background: 22q11.2 deletion syndrome (22q11DS, velo-cardio-facial syndrome [VCFS]) is a genetic disorder associated with interstitial deletions of chromosome 22q11.2. In addition to high rates of neuropsychiatric disorders, children with 22q11DS have impairments of face processing, as well as IQ-independent deficits in visuoperceptual function and social and abstract reasoning. These face-processing deficits may contribute to the social impairments of 22q11DS. However, their neurobiological basis is poorly understood. Methods: We used event-related functional magnetic resonance imaging (fMRI) to examine neural responses when children with 22q11DS (aged 9-17 years) and healthy controls (aged 8-17 years) incidentally processed neutral expressions and mild (50%) and intense (100%) expressions of fear and disgust. We included 28 right-handed children and adolescents: 14 with 22q11DS and 14 healthy (including nine siblings) controls.

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Clinical characteristics of schizophrenia associated with velo-cardio-facial syndrome

Cited by 86 publications

References 19 publications

Neurocognitive profile in 22q11 deletion syndrome and schizophrenia

Neurocognitive profile in 22q11 deletion syndrome and schizophrenia

Schizophrenia and 22q11.2 deletion syndrome

ISDN2014_0211: An fMRI study of facial emotion processing in children and adolescents with 22q11.2 deletion syndrome

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