Exploratory study on cognitive abilities and social responsiveness in children with 22q11.2 deletion syndrome (22q11DS) and children with idiopathic intellectual disability (IID)

Heuvel, Ellen Van Den; Jonkers, Evi; Rombouts, Ellen; Manders, Eric; Zink, Inge; Swillen, Ann

doi:10.1016/j.ridd.2018.04.026

Cited by 14 publications

(21 citation statements)

References 49 publications

(86 reference statements)

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“…Growing into deficit or developmental lag refers to patients who are making insufficient progress with increasing age, resulting in a growing discrepancy in relation to their typically developing peers. They develop at a slower pace compared to the general population causing decreased scaled and standard scores on certain subtests (Swillen & McDonald‐Mcginn, 2015; Van Den Heuvel et al, 2018). As shown in Figure 2, PIQ and VIQ trajectories are comparable to those of FSIQ, although patient 11 obtains remarkable higher PIQ than FSIQ scores at the second time point, which can be regarded as a catch up on the performance domain.…”

Section: Resultsmentioning

confidence: 99%

“…This increasing cognitive deficit with age needs to be interpreted with caution, since it might be partially caused by measurement confound or age range differences. However, growing into deficit is often observed in children with CNVs (Swillen & McDonald‐Mcginn, 2015; Van Den Heuvel et al, 2018) and may be partially explained by the increasing proportion of abstract reasoning skills in IQ tests when children grow older. This finding is in line with the observation that an increasing number of 22q11.2 dup patients need additional educational support or even change from regular to special education with increasing age.…”

Section: Discussionmentioning

confidence: 99%

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Cross‐sectional and longitudinal findings in patients with proximal 22q11.2 duplication: A retrospective chart study

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Zink

Breckpot

et al. 2021

American J of Med Genetics Pt A

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Duplications on Chromosome 22q11.2 (22q11.2 dup) are associated with a wide spectrum of physical and neurodevelopmental features. In this chart review, physical, developmental, and behavioral features of 28 patients with 22q11.2 dup (median age = 17.11 years) are reported, and phenotypes of de novo and inherited duplications are compared. Common medical anomalies include nutritional problems (57%), failure to thrive (33%), transient hearing impairment (52%), and congenital heart defects (33%). Developmental, speech‐language, and motor delay are common in infancy, while attention (64%), learning (60%), and motor problems (52%) are typically reported at primary school age. Attention‐deficit/hyperactivity disorders are diagnosed in 44%. Median full‐scale intelligence quotient is in the borderline range (IQ 76), with one‐fifth of patients having mild intellectual disability. Longitudinal data in 11 patients, with the first assessment at a median age of 5.2 years and the second assessment at a median age of 8.8 years, indicate that almost two‐third of patients have a relative stable cognitive trajectory, whereas one‐third show a growing into deficit profile. In patients with de novo duplications, there is a trend of more failure to thrive, while more patients with inherited duplications follow special education.

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Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Cross‐sectional and longitudinal findings in patients with proximal 22q11.2 duplication: A retrospective chart study

Verbesselt

Zink

Breckpot

et al. 2021

American J of Med Genetics Pt A

Self Cite

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“…Due to the underlying polygenic haploinsufficiency, 22qDS is a multisystem disorder with highly variable and complex phenotypic expression that can vary over the course of development (7,41). Most 22qDS patients (60-80%) cope with at least one lifelong psychiatric disorder, and many patients display comorbid psychopathologies (41).…”

Section: Discussionmentioning

confidence: 99%

“…In addition to intellectual disability and several anatomic phenotypes, psychiatric diagnoses include depression (2), obsessive-compulsive disorder (3), schizophrenia (4), attentional deficit hyperactivity disorder, and autism spectrum disorder (5). Among their constellation of symptoms, 22qDS patients often display pronounced social cognition impairments (6,7), and performance in the social cognitive domain is one of the best measures of the patients' overall quality of life (8)(9)(10).…”

Section: Introductionmentioning

confidence: 99%

Modular, Circuit-Based Interventions Rescue Hippocampal-Dependent Social and Spatial Memory in a 22q11.2 Deletion Syndrome Mouse Model

Kahn

Port

Anderson

et al. 2020

Biological Psychiatry

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“…However, differences in non-social neurocognitive abilities, such as executive functioning, could in part account for differences in social cognitive performance (5,15). Prior studies have also found that impairments in both social cognition and social skills are more pronounced in children and adolescents with 22q11DS than in children with general developmental delays or idiopathic intellectual disability, as well as compared to other genetic conditions such as Williams Syndrome (22)(23)(24).…”

Section: Introductionmentioning

confidence: 99%

Social Cognition in 22q11.2 Deletion Syndrome and Idiopathic Developmental Neuropsychiatric Disorders

Jalal

Nair

Lin

et al. 2020

Preprint

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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.

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Exploratory study on cognitive abilities and social responsiveness in children with 22q11.2 deletion syndrome (22q11DS) and children with idiopathic intellectual disability (IID)

Cited by 14 publications

References 49 publications

Cross‐sectional and longitudinal findings in patients with proximal 22q11.2 duplication: A retrospective chart study

Cross‐sectional and longitudinal findings in patients with proximal 22q11.2 duplication: A retrospective chart study

Modular, Circuit-Based Interventions Rescue Hippocampal-Dependent Social and Spatial Memory in a 22q11.2 Deletion Syndrome Mouse Model

Social Cognition in 22q11.2 Deletion Syndrome and Idiopathic Developmental Neuropsychiatric Disorders

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