Social cognition and real-life functioning in patient samples with 22q11.2 deletion syndrome with or without psychosis,compared to a large sample of patients with schizophrenia only and healthy controls

Patients with the 22q11.2 deletion syndrome (DS) show an increased risk of developing a psychotic illness lifetime. 22q11.2DS may represent a reliable model for studying the neurobiological underpinnings of schizophrenia. The study of social inference abilities in a genetic condition at high risk for psychosis, like 22q11.2DS, may shed light on the relationships between neurocognitive processes and patients' daily general functioning. The study sample consisted of 1736 participants, divided into four groups: 22q11.2DS patients with diagnosis of psychotic disorder (DEL SCZ, N = 20); 22q11.2DS subjects with no diagnosis of psychosis (DEL, N = 43); patients diagnosed with schizophrenia without 22q11.2DS (SCZ, N = 893); and healthy controls (HC, N = 780). Social cognition was assessed through The Awareness of Social Inference Test (TASIT) and general functioning through the Specific Levels of Functioning (SLoF) scale. We analysed data through regression analysis. The SCZ and DEL groups had similar levels of global functioning; they both had significantly lower SLoF Total scores than HC (p < .001); the DEL SCZ group showed significantly lower scores compared to the other groups (SCZ, p = .004; DEL, p = .003; HC, p < .001). A significant deficit in social cognition was observed in the three clinical groups. In the DEL SCZ and SCZ groups, TASIT scores significantly predicted global functioning (p < .05). Our findings of social cognition deficit in psychosis-prone patients point to the possible future adoption of rehabilitation programmes, like Social Skills Training and Cognitive Remediation, during premorbid stages of psychosis.     

The Motor Profile of Primary School-Age Children with a 22q11.2 Deletion Syndrome (22q11.2DS) and an Age- and IQ-Matched Control Group

In the early publications on the 22q11.2 Deletion Syndrome (22q11.2DS) motor abnormalities have been frequently reported. However, systematic studies on the motor performance of children with the 22q11.2DS, and especially of school-age children, are scarce. In this study the motor performance of primary school-age children with a 22q11.2DS (n = 28) was compared with an age- and IQ-matched control group (n = 28) using the Movement Assessment Battery for Children (MABC), the Körperkoordinationstest für Kinder (KTK) and the Beery-Buctenica test of Visual-Motor Integration (Beery). Children with a 22q11.2DS scored significantly lower than the age- and IQ-matched control group on the subsection Manual Dexterity (MABC) and the Visual Perception and Motor Coordination subtests of the Beery. When investigating the correlations between Intelligence quotient (IQ) and motor performance, a specific profile was found in the 22q11.2DS group when compared with the age- and IQ-matched control group. Because an IQ-matched control group was adopted, the deficits in visual-perceptual and visuomotor integration skills cannot fully be attributed to a general developmental delay and thus may be specific for the 22q11.2DS. Future studies that investigate the specificity of the visual-perceptual problems — both on the behavioral and brain level (functional Magnetic Resonance Imaging [fMRI] and Diffusion Tensor Imaging [DTI]) — are necessary to answer this question. Nonetheless, the importance of incorporating motor functioning into the study of the neuropsychological profile of children with a 22q11.2DS has to be stressed.     

Perceptions of Familial Risk in those Seeking a Genetic Risk Assessment for Alzheimer’s Disease

Perceived risk is a complex concept that influences the genetic counseling process and can affect client coping and behavior. Although the association between family history and risk perception is well recognized in the literature, no studies have explored this relationship specifically in those seeking genetic susceptibility testing for a common chronic condition. REVEAL is a randomized trial assessing the impact of APOE disclosure and genetic risk assessment for Alzheimer’s disease (AD). Using baseline REVEAL data, we hypothesized that there would be a significant association between the degree of AD family history and risk perception of AD, and that this relationship would be stronger in those who believed that genetics is a very important AD risk factor. In our sample of 293 participants, we found that a higher self-perceived risk of AD was associated with strength of family history of AD (p < 0.001), belief in genetics as an important AD risk factor (p < 0.001), being female (p < 0.001) and being Caucasian (p = 0.02). These results are the first to demonstrate the association between family history and risk perception in persons volunteering for genetic susceptibility testing for a common complex disease.     

Memory and learning in children with 22q11.2 deletion syndrome: evidence for ventral and dorsal stream disruption?

This study examined memory functioning in children and adolescents with 22q11.2 Deletion Syndrome (DS; velocardiofacial syndrome). An overall verbal better than nonverbal memory pattern was evident on the Test of Memory and Learning (TOMAL), with children with 22q11.2 DS performing significantly below their siblings and children with low average IQ but similar to children with autism on facial memory. Children with 22q11 DS also performed significantly below their siblings on tests of verbal working memory. Children with autism performed significantly poorer than the siblings of children with 22q11.2 DS only on their recall of stories. Delayed recall was significantly poorer in children with 22q11.2 DS and children with autism, compared to sibling controls. Although there were no significant group differences on tests of multiple trial verbal or visual learning, a relative weakness was noted with multiple trial visual learning in children with 22q11.2 DS and their siblings, suggesting that an alternative or interactive factor other than the deletion may account for the relatively better verbal compared to nonverbal memory abilities. Deficits in facial memory in children with both 22q11.2 DS and autism suggest disruptions in ventral temporal pathways such as between fusiform gyrus and parahippocampal/hippocampal regions whereas deficits in verbal working memory in children with 22q11.2 DS implicates dorsolateral prefrontal regions, both intimating aberrant white matter pathways.     

Selective and sustained attention in children with spina bifida myelomeningocele

This study examined memory functioning in children and adolescents with 22q11.2 Deletion Syndrome (DS; velocardiofacial syndrome). An overall verbal better than nonverbal memory pattern was evident on the Test of Memory and Learning (TOMAL), with children with 22q11.2 DS performing significantly below their siblings and children with low average IQ but similar to children with autism on facial memory. Children with 22q11 DS also performed significantly below their siblings on tests of verbal working memory. Children with autism performed significantly poorer than the siblings of children with 22q11.2 DS only on their recall of stories. Delayed recall was significantly poorer in children with 22q11.2 DS and children with autism, compared to sibling controls. Although there were no significant group differences on tests of multiple trial verbal or visual learning, a relative weakness was noted with multiple trial visual learning in children with 22q11.2 DS and their siblings, suggesting that an alternative or interactive factor other than the deletion may account for the relatively better verbal compared to nonverbal memory abilities. Deficits in facial memory in children with both 22q11.2 DS and autism suggest disruptions in ventral temporal pathways such as between fusiform gyrus and parahippocampal/hippocampal regions whereas deficits in verbal working memory in children with 22q11.2 DS implicates dorsolateral prefrontal regions, both intimating aberrant white matter pathways.     

In the Eye of the Beholder: Alcohol Use and Perceptions Among Student-Patrons of ‘Joints’ in Three Nigerian University Communities

Alcohol use and its associated problems among university students have attracted empirical investigation by researchers and scholars. While many of these studies have reported a very high level of alcohol consumption and highlighted the various problems this portends, alcohol-related perceptions of this vulnerable population, which could be germane to intervention aimed at curtailing the problem, have remained largely under-researched. This cross-sectional survey examined the use and perceptions of alcohol by student-patrons (n = 1,705) of beer parlours or ‘joints’ in three university communities in Southwest Nigeria. Respondents were interviewed using AUDIT, a socio-demographic prototype and an open-ended section on alcohol-related perceptions of the students. Findings indicated that overall, 72% of the respondents perceived that alcohol is good for socializing, 68% perceived that alcohol is good in the aspect of stress reduction, 58% believed that alcohol consumption is indicative of maturity, 36% perceived that alcohol enhances their sexual performance while 39% perceived that alcohol serves to enhance alertness/concentration. Results also showed that gender (β = −. 23; p < .05), paternal alcohol use (β = .36; p < .01), parental socio-economic status (β = .33; p < .01), and residential status of university of respondents (β = .21; p < .05) significantly predicted alcohol use. The study concluded that perceptions about alcohol are very germane to understanding students’ alcohol use and should be reckoned with in designing intervention programmes. The need to adopt a ‘client-centered’ approach to the problem of student drinking behaviour was emphasized.     

Anxiety in Children with Mood Disorders: A Treatment Help or Hindrance?

This study examined the role of comorbid anxiety in treatment outcome for children with mood disorders (N = 165; age 8–11) participating in Multi-Family Psychoeducational Psychotherapy (MF-PEP). Assessments occurred at baseline, 6, 12, and 18 months for two randomly assigned groups: immediate treatment and 1-year wait-list. Most children (69%) had comorbid anxiety disorders. Baseline comorbid anxiety, as reported on the Children’s Interview for Psychiatric Syndromes (ChIPS), was associated with higher Children’s Depression Rating Scale- Revised (CDRS-R) scores but not Young Mania Rating Scale (YMRS) scores. Higher levels of anxiety symptoms were associated with lower Children’s Global Assessment Scale (C-GAS) scores. Participation in MF-PEP did not significantly reduce anxiety symptoms (p = 0.62). However, presence of comorbid anxiety did not impede reduction in depressive (CDRS-R, p = 0.74) or manic (YMRS scores, p = 0.94) symptoms following MF-PEP. More baseline anxiety symptoms were associated with greater improvement in C-GAS scores post-treatment (p = 0.02). Implications are discussed.     

Communication of Psychiatric Risk in 22q11.2 Deletion Syndrome: A Pilot Project

Individuals with 22q11.2 deletion syndrome (22q11.2DS) have an increased chance of developing a psychiatric disorder. While parents of children affected by 22q11.2DS typically receive counseling about risk for non-psychiatric health concerns, genetic counselors may be reluctant to discuss psychiatric risk. Further education of genetic counselors may be necessary to encourage discussion of psychiatric risk with these families. The goal of this project was to develop recommendations for genetic counselors to provide psychiatric risk information to families affected by 22q11.2DS. The recommendations were developed by synthesizing resources in the literature about risk communication. These recommendations were refined following an online focus group meeting with five health care professionals who were recruited for participation from 22q11.2DS clinics across the U.S.A. The focus group data revealed three themes related to discussion of psychiatric risk: 1) Stepwise approach, 2) Discussing treatment options and reducing risks, and 3) Addressing stigma. These recommendations may be used as a foundation for a future clinical protocol to encourage discussion about the risk for psychiatric illness at an earlier point in the diagnostic process for 22q11.2DS and to provide improved information, support and resources to affected families.     

Further Evidence of the Reliability and Validity of the Multidimensional Anxiety

The psychometric properties of the Multidimensional Anxiety Scale for Children (MASC) were examined in adolescent psychiatric inpatient samples. In Study 1 (n = 287), confirmatory factor analyses provided satisfactory fit for the four-factor (comparative fit index; CFI = 0.856) and higher-order (CFI = 0.854) solutions. Using parcels as items, the fit of the four-factor model was improved substantially (CFI = 0.935). Next, in the bifactor analyses, support was attained for a model that included a general factor and four domain specific subfactors. In Study 2 (n = 195 inpatient youths), the MASC showed good scale reliability and concurrent validity. Results of the receiver operating characteristic curve and binary logistic regression analyses provided adequate evidence for discriminative validity. In Study 3 (n = 40), test–retest reliability of scores on the MASC-10 scale over a 3-week period was adequate (r _tt = 0.83, p < 0.001) for children ages 8 to 11 years.     

An Evaluation of the Relation Between Distress Tolerance and Posttraumatic Stress within a Trauma-Exposed Sample

The present investigation examined the incremental associations between distress tolerance, or the perceived capacity to tolerate emotional distress, and global posttraumatic stress symptom severity as well as symptom cluster severity, beyond the variance accounted for by number of trauma exposure types and negative affectivity. The sample consisted of 140 adults (72 women; M _age = 25.9, SD = 11.1) who endorsed exposure to traumatic life events, as defined by posttraumatic stress disorder diagnostic criterion A (American Psychiatric Association 2000). Participants did not meet diagnostic criteria for current axis I psychopathology. Distress tolerance demonstrated significant incremental associations with global posttraumatic stress symptom severity (p < .01) as well as re-experiencing (p < .05), avoidance (p = .05), and hyperarousal (p < .001) symptom cluster severity. Given the cross-sectional study design, causation cannot be inferred. Theoretical implications and future directions for better understanding associations between distress tolerance and posttraumatic stress are discussed.     

Maladaptive conflict monitoring as evidence for executive dysfunction in children with chromosome 22q11.2 deletion syndrome

Using an adaptation of the Attentional Networks Test, we investigated aspects of executive control in children with chromosome 22q11.2 deletion syndrome (DS22q11.2), a common but not well understood disorder that produces non-verbal cognitive deficits and a marked incidence of psychopathology. The data revealed that children with DS22q11.2 demonstrated greater difficulty than controls in locating and processing target items in the presence of distracters. Importantly, children with DS22q11.2 showed a deficit in the ability to monitor and adapt to stimulus conflict. These data provide evidence of inadequate conflict adaptation in children with DS22q11.2, a problem that is also present in schizophrenia. The findings of specific executive dysfunction in this group may provide a linkage between particular genetic abnormalities and the development of psychopathology.     

Physical Activity, Life Satisfaction, and Self-Rated Health of Middle School Students

Little research has examined the association between life satisfaction, self-rated health (SRH), and physical activity concurrently for middle school students. A convenience sample of 245 students in grades 7 and 8 was surveyed about physical activity, life satisfaction, and SRH using the U.S. Centers for Disease Control and Prevention (CDC) 2005 Middle School Youth Risk Behavior Survey. ANOVA analyses revealed significantly reduced life satisfaction for females who reported not engaging in vigorous physical activity during the past 7 days [p < .01, effect size (ES) = .75]. Significantly reduced life satisfaction was detected for both males (p < .001, ES = .66) and females (p < .0001, ES = .80) who reported not playing on sports teams. Additionally, logistic regression analyses showed the odds of reporting fair/poor SRH increased 5.4 times for males (CI = 1.30–22.39, p < .05) and 30.9 times for females (CI = 3.74–255.43, p < .001) who reported not playing on sports teams. Preliminary findings suggest physical activity and sports participation is associated with improved life satisfaction and SRH for middle school students. In addition, although some gender differences were observed, consistent findings for sports participation suggest sports participation may carry multiple social, mental, and physical benefits for youth.     

Executive functioning and its relation to ASD and ADHD symptomatology in 22q11.2 deletion syndrome*

Children with 22q11.2 deletion syndrome (22q11DS; velo-cardio-facial-syndrome) are at risk for the developmental disorders, attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). In this study, the relation between executive functioning (EF) and the severity of ADHD and ASD symptoms is examined, since EF is known to be important in relation to emotional and behavioral problems. The participants consist of 58 children (38 females) with a mean age of 13.5 years (SD 2.6). Standardized assessment was used to evaluate the severity of ASD and ADHD symptomatology. The major aspects of EF, i.e., cognitive flexibility, inhibition, sustained attention, distractibility, working memory and reaction speed, were evaluated. The profile of EF in 22q11DS was found to be characterized by weaker performance compared to the norms on all subdomains of EF. Poor cognitive flexibility and inhibition, as well as high distractibility, were found to be related to more severe ASD symptoms, while poor quality of sustained attention and high distractibility were found to be related to more severe ADHD symptoms. It is concluded that children with 22q11DS experience impairments in EF, and that the degree of impairment on specific EF subdomains is related to the severity of ASD and/or ADHD symptomatology. These results may help in defining the mediating role of neurocognitive dysfunctions in the development of social and behavioral problems in 22q11DS.     

Gender-Moderated Dorsolateral Prefrontal Reductions in 22q11.2 Deletion Syndrome: Implications for Risk for Schizophrenia

To investigate the impact of the microdeletion on morphology of the prefrontal cortex in 22q11.2 Deletion Syndrome (22q11.2 DS), high-resolution, anatomic magnetic resonance imaging was performed on 19 children and adolescents with 22q11.2 DS (11 females, 8 males) and 18 unaffected controls (10 females, 8 males). Tissue volumes of the dorsolateral, dorsomedial, orbitolateral, and orbitomedial prefrontal cortex were measured. Tasks of executive function and working memory were administered to investigate the association between anatomy and function. Whole brain volume and frontal lobe tissue volume were preserved in girls but reduced in boys with 22q11.2 DS relative to age-matched controls. Dorsolateral prefrontal cortex (DLPFC) volumes were reduced in participants with 22q11.2 DS, although the gender-by-diagnosis effect found for frontal lobe was not as robust for DLPFC. DLPFC volumes were associated with performance on tasks of planning and emotional facial recognition. Longitudinal studies are needed to clarify whether gender differences in frontal lobe and DLPFC persist with development, and whether the volumes of the DLPFC are associated with eventual deterioration in adaptive/psychosocial function that may presage the onset of schizophrenia, for which individuals with 22q11.2 DS are at a disproportionately high risk.     

Gender-moderated dorsolateral prefrontal reductions in 22q11.2 Deletion Syndrome: implications for risk for schizophrenia.

To investigate the impact of the microdeletion on morphology of the prefrontal cortex in 22q11.2 Deletion Syndrome (22q11.2 DS), high-resolution, anatomic magnetic resonance imaging was performed on 19 children and adolescents with 22q11.2 DS (11 females, 8 males) and 18 unaffected controls (10 females, 8 males). Tissue volumes of the dorsolateral, dorsomedial, orbitolateral, and orbitomedial prefrontal cortex were measured. Tasks of executive function and working memory were administered to investigate the association between anatomy and function. Whole brain volume and frontal lobe tissue volume were preserved in girls but reduced in boys with 22q11.2 DS relative to age-matched controls. Dorsolateral prefrontal cortex (DLPFC) volumes were reduced in participants with 22q11.2 DS, although the gender-by-diagnosis effect found for frontal lobe was not as robust for DLPFC. DLPFC volumes were associated with performance on tasks of planning and emotional facial recognition. Longitudinal studies are needed to clarify whether gender differences in frontal lobe and DLPFC persist with development, and whether the volumes of the DLPFC are associated with eventual deterioration in adaptive/psychosocial function that may presage the onset of schizophrenia, for which individuals with 22q11.2 DS are at a disproportionately high risk.     

Domain specific attentional impairments in children with chromosome 22q11.2 deletion syndrome

One of the defining cognitive characteristics of the chromosome 22q deletion syndrome (DS22q11.2) is visuospatial processing impairments. The purpose of this study was to investigate and extend the specific attentional profile of children with this disorder using both an object-based attention task and an inhibition of return task. A group of children with the disorder was compared in these tasks with a group of age-matched typically developing children. The children with DS22q11.2 demonstrated impaired spatially based orienting which is consistent with previous findings in this group. Strikingly, the children with DS22q11.2 also demonstrated an improved ability to use object-based cues, relative to the typically developing group. Finally, the children with DS22q11.2 demonstrated an intact inhibition of return system, however, it appears to be delayed developmentally.     

Autism Spectrum Symptomatology in Children: The Impact of Family and Peer Relationships

This study examines the potential impact of family conflict and cohesion, and peer support/bullying on children with autism spectrum disorder (ASD). While such impacts have been established for a range of non-ASD childhood disorders, these findings may not generalize to children with ASD because of unique problems in perspective-taking, understanding others’ emotion, cognitive rigidity, and social reasoning. A structural model-building approach was used to test the extent to which family and peer variables directly or indirectly affected ASD via child anxiety/depression. The sample (N = 322) consisted of parents of children with ASD referred to two specialist clinics. The sample contained parents of children with Autistic Disorder (n = 76), Asperger Disorder (n = 188), Pervasive Disorder Not Otherwise Specified (n = 21), and children with a non-ASD or no diagnosis (n = 37). Parents completed questionnaires on-line via a secure website. The key findings were that anxiety/depression and ASD symptomatology were significantly related, and family conflict was more predictive of ASD symptomatology than positive family/peer influences. The results point to the utility of expanding interventions to include conflict management for couples, even when conflict and family distress is low. Further research is needed on the potentially different meanings of family cohesion and conflict for children with ASD relative to children without ASD.     

Association of <Emphasis Type="Italic">ADAM10</Emphasis> and <Emphasis Type="Italic">CAMK2A</Emphasis> Polymorphisms with Conduct Disorder: Evidence from Family-Based Studies

Twin and family studies have shown that genetic factors play a role in the development of conduct disorder (CD). The purpose of this study was to identify genetic variants associated with CD using a family-based association study. We used 4,720 single nucleotide polymorphisms (SNPs) from the Illumina Panel and 11,120 SNPs from the Affymetrix 10K GeneChips genotyped in 155 Caucasian nuclear families from Genetic Analysis Workshop (GAW) 14, a subset from the Collaborative Study on the Genetics of Alcoholism (COGA). 20 SNPs had suggestive associations with CD (p < 10⁻³), nine of which were located in known genes, including ADAM10 (rs383902, p = 0.00036) and CAMK2A (rs2053053, p = 0.00098). Our results were verified using the International Multi-Center ADHD Genetics Project (IMAGE) dataset. In conclusion, we identified several loci associated with CD. Especially, the two genes (ADAM10 and CAMK2A) have been reported to be associated with Alzheimer’s disease, bipolar disorder and depression. These findings may serve as a resource for replication in other populations.     

Reliability and Validity of the Thai “Global Person Generated Index”, an Individualised Measure of Quality of Life

The “Global Person Generated Index” (GPGI) is an individualised measure of global quality of life (QoL). Individualised measures have been used within a health context, however until recently have been rarely used to explore global QoL. This paper establishes the GPGI’s validity and reliability in Thailand. Data were collected from participants in two sites in Northeast Thailand. Participants completed the Thai GPGI, the “Satisfaction with Life Scale”(SWLS), a modified “Positive and Negative Affect Scale” (PANAS) and provided demographic data. 81 participants provided data at T1. 70 participants completed data for test-retest (two week interval) reliability comparisons. Test-retest reliability correlation was 0.678 (p < 0.001) for participants reporting no change in QoL. GPGI correlated moderately with SWLS (0.381, p < 0.01) and PANAS scales (0.291 and −0.378, both p < 0.01), indicating validity. GPGI scores were related to health and correlated to a moderate degree with income (0.379, p < 0.05). GPGI scores did not show the expected differences in scores based on gender, although this may be owing to cultural issues. Areas nominated as important to QoL included family, money, house, health and employment, which mirrors items on other QoL scales and previous work with individualised measures. The Thai GPGI is reliable for group comparisons and valid. The difficulties of designing cross-cultural construct validity hypotheses are acknowledged. Areas nominated as important to QoL were diverse and largely asset based. The GPGI is recommended for use to explore global QoL and potentially useful for needs assessment and exploration of response shift.