scholarly journals 2117

2017 ◽  
Vol 1 (S1) ◽  
pp. 69-69
Author(s):  
Kathleen Angkustsiri ◽  
Tony J. Simon ◽  
Paul D. Hastings

OBJECTIVES/SPECIFIC AIMS: Chromosome 22q11.2 deletion syndrome (22q) has a prevalence almost as common as Down syndrome. 22q is well known for medical complications, including congenital heart disease and immune dysfunction. However, children with 22q also have borderline cognitive abilities, are at high risk for ADHD and anxiety, and have poor independent living skills (adaptive function). Parenting is one modifiable factor that has been found in typically developing populations to promote independent functioning and protect against the development of anxiety disorders. This study investigates the associations between parenting, anxiety, and adaptive functioning in 22q. METHODS/STUDY POPULATION: Parent-child (ages 4–11) dyads participated in an ongoing study involving observed parenting during challenging tasks plus questionnaires of parenting, child anxiety, and child functioning. In total, 52 dyads [22q=25; typical development (TD)=27] have enrolled to date. Parents completed questionnaires, including the Parenting Styles and Dimensions Questionnaire (PSDQ), Spence Children’s Anxiety Scale, and Adaptive Behavior Assessment System for Children (ABAS-II). PSDQ dimensions of interest included Parental Psychological Control (PPC: the management of child behavior through the manipulation of emotions, expectations, and independence), Authoritative, Authoritarian, and Permissive, and the subscales of these broad dimensions. Scores were compared using t-tests and multiple regression models were used to investigate the relationships between 1-parenting and anxiety and 2-parenting and adaptive function. RESULTS/ANTICIPATED RESULTS: Mean age was 7.8+2.1 years. Full Scale IQ (TD: 112.3 vs. 22q: 82; p<0.001) and ABAS-II Global Adaptive Composite (TD: 102.7 vs. 22q: 69.2; p<0.001) were significantly higher in the TD group. Parents in the 22q group reported higher levels of PSDQ PPC (22q: 2.3 vs. TD: 2.1; p=0.06), specifically overprotection (22q: 3.7 vs. TD: 3.3; p=0.04), and lower Authoritative parenting (22q: 4.1 vs. TD: 4.4; p=0.03), across the subscales. There were no differences in Authoritarian or Permissive parenting. Children with 22q had higher Spence Total Anxiety scores (22q: 62.5 vs. TD: 47.4; p<0.001). Self-reported PPC and group (R2=0.3, F3,48=8.1, p<0.001) predicted child anxiety with a main effect of PPC (β=16, p=0.02). Group tended to moderate the association between PPC and anxiety (β=−17.5, p<0.10), with PPC predicting anxiety for the 22q group (r=0.35, p<0.09), but not the TD group (r=−0.08, ns). At this time, a relationship between PPC and child ABAS-II GAC in 22q (r=−0.14; p=0.5) is not identified. DISCUSSION/SIGNIFICANCE OF IMPACT: Children with 22q are at high risk for anxiety and poor adaptive outcomes. These results suggest that parents of children with 22q use higher levels of PPC, which is correlated with increased child anxiety. These analyses also provide support for parenting interventions to improve anxiety in children with 22q and possibly mitigate the serious mental health risk in this population.

2019 ◽  
Vol 4 (4) ◽  
pp. 633-640 ◽  
Author(s):  
Canice E. Crerand ◽  
Ari N. Rabkin

Purpose This article reviews the psychosocial risks associated with 22q11.2 deletion syndrome, a relatively common genetic condition associated with a range of physical and psychiatric problems. Risks associated with developmental stages from infancy through adolescence and early adulthood are described, including developmental, learning, and intellectual disabilities as well as psychiatric disorders including anxiety, mood, and psychotic disorders. Other risks related to coping with health problems and related treatments are also detailed for both affected individuals and their families. Conclusion The article ends with strategies for addressing psychosocial risks including provision of condition-specific education, enhancement of social support, routine assessment of cognitive abilities, regular mental health screening, and referrals for empirically supported psychiatric and psychological treatments.


2020 ◽  
Author(s):  
Rhideeta Jalal ◽  
Aarti Nair ◽  
Amy Lin ◽  
Ariel Eckfeld ◽  
Leila Kushan ◽  
...  

Abstract Background: 22q11.2 deletion syndrome (22q11DS) is a common recurrent neurogenetic condition associated with elevated risk for developmental neuropsychiatric disorders and intellectual disability. Children and adults with 22q11DS often exhibit marked social impairment as well as neurocognitive deficits, and have elevated rates of both autism spectrum disorder (ASD) and psychosis. However, the relationship between the basic processes of social cognition and cognitive ability has not been well studied in 22q11DS. Here, we examined differences in social cognition in 22q11DS, relative to multiple groups of idiopathic neuropsychiatric disorders, and typically developing healthy controls (HC). Additionally, we examined differences in intellectual functioning and its relationship to social cognitive abilities. Finally, we examined the relationship between social cognitive abilities and real-world social behavior. Methods: We examined social cognition and intellectual functioning in 273 participants (mean age = 17.74+/-5.18% female = 44.3%): 50 with 22q11DS, 49 youth with first episode psychosis (FEP), 48 at clinical high-risk (CHR) for psychosis, 24 participants with ASD, and 102 HC. Social cognition was assessed using The Awareness of Social Inference Test (TASIT), while reciprocal social behavior was assessed via parent/caregiver ratings on the Social Responsiveness Scale (SRS). Participants were also administered the Wechsler Abbreviated Scale of Intelligence, 2 nd edition (WASI-II) to assess intellectual functioning. Results: The 22q11DS group exhibited significantly lower social cognitive abilities compared to all other groups, even after controlling for intellectual functioning. Significant positive correlations were found between social cognition, as measured by the TASIT, and IQ across groups. In contrast, no significant relationships were found between TASIT and real-world social behavior (SRS) for any group. Conclusions: Our findings indicate social cognitive deficits are more prominent in 22q11DS than idiopathic neuropsychiatric conditions across the age range, even after adjusting for global intellectual function. These results contribute to our understanding of the intellectual and social vulnerabilities of 22q11DS in comparison to idiopathic neuropsychiatric disorders. Our findings of robust associations between intellectual ability and social cognition emphasizes the importance of accounting for neurocognitive deficits in social skills interventions and tailoring these existing treatment models for 22q11DS and other populations with intellectual impairment.


2020 ◽  
Author(s):  
Rhideeta Jalal ◽  
Aarti Nair ◽  
Amy Lin ◽  
Ariel Eckfeld ◽  
Leila Kushan ◽  
...  

Abstract Background 22q11.2 deletion syndrome (22q11DS) is a common recurrent neurogenetic condition associated with elevated risk for developmental neuropsychiatric disorders and intellectual disability. Children and adults with 22q11DS often exhibit marked social impairment as well as neurocognitive deficits, and have elevated rates of both autism spectrum disorder (ASD) and psychosis. However, the relationship between the basic processes of social cognition and cognitive ability has not been well studied in 22q11DS. Here, we examined differences in social cognition in 22q11DS, relative to multiple groups of idiopathic neuropsychiatric disorders, and typically developing healthy controls (HC). Additionally, we examined differences in intellectual functioning and its relationship to social cognitive abilities. Finally, we examined the relationship between social cognitive abilities and real-world social behavior. Methods We examined social cognition and intellectual functioning in 306 participants (mean age = 16.63+/-4.59; % female = 44.8%): sixty-eight with 22q11DS, 49 youth with first episode psychosis (FEP), 48 at clinical high-risk (CHR) for psychosis, 24 participants with ASD, and 117 HC. Social cognition was assessed using The Awareness of Social Inference Test (TASIT), while reciprocal social behavior was assessed via parent/caregiver ratings on the Social Responsiveness Scale (SRS). Participants were also administered the Wechsler Abbreviated Scale of Intelligence, 2 nd edition (WASI-II) to assess intellectual functioning. Results The 22q11DS group exhibited significantly lower social cognitive abilities compared to all other groups, even after controlling for intellectual functioning. Significant positive correlations were found between social cognition, as measured by the TASIT, and IQ across groups. In contrast, no significant relationships were found between TASIT and real-world social behavior (SRS) for any group. Conclusions Our findings indicate social cognitive deficits are more prominent in 22q11DS than idiopathic neuropsychiatric conditions across the age range, even after adjusting for global intellectual function. These results contribute to our understanding of the intellectual and social vulnerabilities of 22q11DS in comparison to idiopathic neuropsychiatric disorders. Our findings of robust associations between intellectual ability and social cognition emphasizes the importance of accounting for neurocognitive deficits in social skills interventions and tailoring these existing treatment models for 22q11DS and other populations with intellectual impairment.


2018 ◽  
Vol 272 ◽  
pp. 65-70 ◽  
Author(s):  
Claudia Vingerhoets ◽  
Oswald J.N. Bloemen ◽  
Erik Boot ◽  
Geor Bakker ◽  
Mariken B. de Koning ◽  
...  

2016 ◽  
Vol 15 (3) ◽  
pp. 259-265 ◽  
Author(s):  
Maude Schneider ◽  
Marco Armando ◽  
Maria Pontillo ◽  
Stefano Vicari ◽  
Martin Debbané ◽  
...  

2021 ◽  
Vol 13 (1) ◽  
Author(s):  
Rhideeta Jalal ◽  
Aarti Nair ◽  
Amy Lin ◽  
Ariel Eckfeld ◽  
Leila Kushan ◽  
...  

Abstract Background 22q11.2 deletion syndrome (22q11DS) is a common recurrent neurogenetic condition associated with elevated risk for developmental neuropsychiatric disorders and intellectual disability. Children and adults with 22q11DS often exhibit marked social impairment as well as neurocognitive deficits, and have elevated rates of both autism spectrum disorder (ASD) and psychosis. However, the relationship between the basic processes of social cognition and cognitive ability has not been well studied in 22q11DS. Here, we examined differences in social cognition in 22q11DS, relative to multiple groups of idiopathic neuropsychiatric disorders, and typically developing healthy controls (HC). Additionally, we examined differences in intellectual functioning and its relationship to social cognitive abilities. Finally, we examined the relationship between social cognitive abilities and real-world social behavior. Methods We examined social cognition and intellectual functioning in 273 participants (mean age = 17.74 ± 5.18% female = 44.3%): 50 with 22q11DS, 49 youth with first episode psychosis (FEP), 48 at clinical high-risk (CHR) for psychosis, 24 participants with ASD, and 102 HC. Social cognition was assessed using The Awareness of Social Inference Test (TASIT), while reciprocal social behavior was assessed via parent/caregiver ratings on the Social Responsiveness Scale (SRS). Participants were also administered the Wechsler Abbreviated Scale of Intelligence, 2nd edition (WASI-II) to assess intellectual functioning. Results The 22q11DS group exhibited significantly lower social cognitive abilities compared to CHR, FEP, and HC groups after controlling for intellectual functioning, but not in comparison to the ASD group. Significant positive correlations were found between social cognition, as measured by the TASIT and IQ across groups. In contrast, no significant relationships were found between TASIT and real-world social behavior (SRS) for any group. Conclusions Our findings indicate social cognitive deficits are more prominent in 22q11DS than idiopathic neuropsychiatric conditions across the age range, even after adjusting for global intellectual function. These results contribute to our understanding of the intellectual and social vulnerabilities of 22q11DS in comparison to idiopathic neuropsychiatric disorders. Our findings of robust associations between intellectual ability and social cognition emphasizes the importance of accounting for neurocognitive deficits in social skills interventions and tailoring these existing treatment models for 22q11DS and other populations with intellectual impairment.


Author(s):  
Antonio Raya Trenas ◽  
Beatriz Aguilar Yamuza ◽  
Javier Herruzo Cabrera ◽  
María J. Pino Osuna

Several studies have highlighted the relationship between parenting styles and depression in children. The aim of this study is to ascertain whether there are differences in the parenting practices received by two groups of children who obtain low-risk and high-risk scores respectively in relation to depression and determine which parenting variables are linked with the presence or absence of this kind of internalizing problem. From a sample of 550 subjects, obtained by probabilistic cluster sampling, we selected 140 children between 3 and 12 years of age who met a set of specific criteria as having high risk scores (70 children) for depression according to the Behavior Assessment System for Children (BASC) or having low scores in this variable (70 children). Then, the Parent–Child Relationship Inventory (PCRI) was applied to both parents. We carried out a binomial logistic regression analysis which resulted in a prediction model for 89.3% of the sample, based on the following parenting variables: limit setting and involvement from the mothers, and parental support, autonomy, satisfaction with parenting, and communication from the fathers. Finally, the usefulness of our results to plan intervention strategies within families of children with depression is discussed.


Neurocase ◽  
2004 ◽  
Vol 10 (3) ◽  
pp. 198-206 ◽  
Author(s):  
Carrie E. Bearden ◽  
Theo G. M. van Erp ◽  
John R. Monterosso ◽  
Tony J. Simon ◽  
David C. Glahn ◽  
...  

2017 ◽  
Vol 41 (S1) ◽  
pp. S81-S82
Author(s):  
M. Armando ◽  
M. Schneider ◽  
M. Pontillo ◽  
S. Vicari ◽  
M. Debbane ◽  
...  

The 22q11.2 deletion syndrome (22q11DS) is characterized by high rates of psychotic symptoms and schizophrenia, making this condition a promising human model for studying risk factors for psychosis. We explored the predictive value of ultra high-risk (UHR) criteria in a sample of patients with 22q11DS. We also examined the additional contribution of sociodemographic, clinical and cognitive variables to predict transition to psychosis within a mean interval of 32.56176 months after initial assessment. Eighty-nine participants with 22q11DS (age range: 8–30 years; mean: 16.1647) were assessed using the structured interview for psychosis-risk syndromes. Information on axis I diagnoses, internalizing and externalizing symptoms, level of functioning and IQ was also collected. At baseline, 22 (24.7%) participants met UHR criteria. Compared to those without a UHR condition, they had a significantly lower functioning, more frequent anxiety disorders and more severe psychopathology. Transition rate to psychosis was 27.3% in UHR and 4.5% in non-UHR participants. Cox regression analyses revealed that UHR status significantly predicted conversion to psychosis. Baseline level of functioning was the only other additional predictor. This is the first study investigating the predictive value of UHR criteria in 22q11DS. It indicates that the clinical path leading to psychosis is broadly comparable to that observed in other clinical high-risk samples. Nevertheless, the relatively high transition rate in non-UHR individuals suggests that other risk markers should be explored in this population. The role of low functioning as a predictor of transition to psychosis should also be investigated more in depth.Disclosure of interestThe authors have not supplied their declaration of competing interest.


2021 ◽  
Author(s):  
Rhideeta Jalal ◽  
Aarti Nair ◽  
Amy Lin ◽  
Ariel Eckfeld ◽  
Leila Kushan ◽  
...  

Abstract Background: 22q11.2 deletion syndrome (22q11DS) is a common recurrent neurogenetic condition associated with elevated risk for developmental neuropsychiatric disorders and intellectual disability. Children and adults with 22q11DS often exhibit marked social impairment as well as neurocognitive deficits, and have elevated rates of both autism spectrum disorder (ASD) and psychosis. However, the relationship between the basic processes of social cognition and cognitive ability has not been well studied in 22q11DS. Here, we examined differences in social cognition in 22q11DS, relative to multiple groups of idiopathic neuropsychiatric disorders, and typically developing healthy controls (HC). Additionally, we examined differences in intellectual functioning and its relationship to social cognitive abilities. Finally, we examined the relationship between social cognitive abilities and real-world social behavior.Methods: We examined social cognition and intellectual functioning in 273 participants (mean age = 17.74+/-5.18% female = 44.3%): 50 with 22q11DS, 49 youth with first episode psychosis (FEP), 48 at clinical high-risk (CHR) for psychosis, 24 participants with ASD, and 102 HC. Social cognition was assessed using The Awareness of Social Inference Test (TASIT), while reciprocal social behavior was assessed via parent/caregiver ratings on the Social Responsiveness Scale (SRS). Participants were also administered the Wechsler Abbreviated Scale of Intelligence, 2ndedition (WASI-II) to assess intellectual functioning. Results: The 22q11DS group exhibited significantly lower social cognitive abilities compared to CHR, FEP, and HC groups after controlling for intellectual functioning, but not in comparison to the ASD group. Significant positive correlations were found between social cognition, as measured by the TASIT, and IQ across groups. In contrast, no significant relationships were found between TASIT and real-world social behavior (SRS) for any group. Conclusions: Our findings indicate social cognitive deficits are more prominent in 22q11DS than idiopathic neuropsychiatric conditions across the age range, even after adjusting for global intellectual function. These results contribute to our understanding of the intellectual and social vulnerabilities of 22q11DS in comparison to idiopathic neuropsychiatric disorders. Our findings of robust associations between intellectual ability and social cognition emphasizes the importance of accounting for neurocognitive deficits in social skills interventions and tailoring these existing treatment models for 22q11DS and other populations with intellectual impairment.


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