Attention deficits in children with 22q.11 deletion syndrome (original) (raw)
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Genetic counseling (Geneva, Switzerland)
School-aged children with del22q11.2 tend to show a typical learning and neuropsychological profile, which is characterised by a VIQ-PIQ discrepancy (in favour of the VIQ) and significantly better scores for reading (decoding) and spelling compared to mathematics. To the best of our knowledge, there exists no systematic research on the pre-academic and early academic skills that might underpin these learning difficulties. The purpose of the current study was to investigate more systematically these pre-academic and early academic skills in borderline to normal intelligent (FSIQ > 70) children with del22q11.2 in the last year of kindergarten and first grade of primary school in Flanders. In the kindergarten group, metalinguistic awareness and counting skills were examined. In the group of first graders, children were tested on reading, spelling and mathematics. Thirteen children (mean age: 6 years 4 months (SD = 0.84); 9 boys, 4 girls) participated in this study.
Networks of Attention in Children With the 22q11 Deletion Syndrome
Developmental Neuropsychology, 2004
The 22q11 chromosomal deletion syndrome (22q11 DS) is associated with learning disabilities and a complex neuropsychological profile. Previous findings have suggested that executive attention deficits might underlie other neurocognitive anomalies. We administered the child Attention Network Test (ANT) to 52 children ages 5.0 to 11.5, 32 22q11 DS children (19 girls) and 20 controls (13 girls) and assessed the efficiency of segregated executive, orienting, and alerting networks. We hypothesized that 22q11 DS children have impaired executive network efficiency as compared to control siblings. The internal validity of the child ANT was confirmed for this population. Analysis of variance results showed significant main effects for flanker and cue types and no interaction effect in either 22q11 DS children or control siblings. Compared to control siblings, 22q11 DS children had significantly larger (less efficient) executive network scores, significantly increased errors on only incongruent trials, and a significant correlation between executive network scores and accuracy. The implications of these findings for future neurocognitive studies of 22q11 DS children are considered. The 22q11 deletion syndrome (22q11 DS) results from a meiotic deletion of DNA at the q11.2 site on chromosome 22 and its estimated prevalence is 1:4,000 (du Montcel, Mendizabal, Ayme, Sevy, & Philip, 1996). In over 90% of cases the deletion is not transmitted (Morrow et al., 1995). Congenital anomalies of widely varying severity can be associated with this condition and might include heart defects, immunologic deficits, craniofacial dysmorphologies, and velopharyngeal defects such as overt or submucous cleft palate (e.g., Ryan et al., 1997). Prior to identification of a single associated deletion, different clinical labels were used to indicate a given child's congenital anomalies, including DiGeorge Syndrome (primary immunologic deficit), Velo-Cardio-Facial-Syndrome (VCFS; velopharyngeal, heart, and facial anomalies), and Conotruncal Anomaly Face Syndrome (primary heart defect with facial dysmorphologies). Whereas the physical phenotype is heterogeneous, the neurocognitive profile is far more consistent. Researchers have estimated that 90% to 100% of 22q11 DS children are learning disabled (e.g., Lipson et al., 1991; Shprintzen, Goldberg, Young, & Walford, 1981) and hypotonic, with gross and fine motor dyscoordination, associated expressive language delays, attention impairment, and behavioral anomalies (Gerdes et al., 1999). Frank mental retardation is relatively rare and may be associated with prolonged anoxia during early cardiac failure. Of urgent concern, approximately 25% of 22q11 DS children are estimated to develop early adulthood schizophrenia (Murphy & Owen, 1996; Pulver et al.,
Background The 22q11.2 deletion syndrome (22q11DS; velo-cardio-facial syndrome) is associated with an increased risk of various disorders, including autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD). With this study, we aimed to investigate the relation between intellectual functioning and severity of ASD and ADHD symptomatology in 22q11DS. Method A sample of 102 individuals (62 females) with 22q11DS aged 9 to 18.5 years were assessed using age appropriate Wechsler scales of intelligence as well as psychological and psychiatric assessment to evaluate the presence of ASD and ADHD symptomatology. Results Intelligence profiles were characterised by lower scores on the factor perceptual organisation and higher scores on the factor processing speed, with on subtest level higher scores on digit span and lower scores on arithmetic and vocabulary as compared with the mean factor or subtest score respectively. No differences in intelligence profiles were found between subgroups with and without ASD and/or ADHD. Low scores on coding were associated with higher severity of ASD symptomatology, while lower scores on block design were associated with more severe ADHD symptomatology. Conclusions On several sub-domains of intelligence, poorer performance was associated with higher severity of ASD and ADHD symptomatology. The impact of developmental disorders in 22q11DS can be traced in specific domains of intellectual functioning as well as in severity of symptomatology.
Cognitive development in children with 22q11.2 deletion syndrome
The British Journal of Psychiatry, 2012
Background People with 22q11.2 deletion syndrome (velo-cardio-facial syndrome) have a 30-fold risk of developing schizophrenia. In the general population the schizophrenia phenotype includes a cognitive deficit and a decline in academic performance preceding the first episode of psychosis in a subgroup of patients. Findings of cross-sectional studies suggest that cognitive abilities may decline over time in some children with 22q11.2 deletion syndrome. If confirmed longitudinally, this could indicate that one or more genes within 22q11.2 are involved in cognitive decline. Aims To assess longitudinally the change in IQ scores in children with 22q11.2 deletion syndrome. Method Sixty-nine children with the syndrome were cognitively assessed two or three times at set ages 5.5 years, 7.5 years and 9.5 years. Results A mean significant decline of 9.7 Full Scale IQ points was found between ages 5.5 years and 9.5 years. In addition to the overall relative decline that occurred when results ...
Executive functioning and its relation to ASD and ADHD symptomatology in 22q11.2 deletion syndrome*
Child Neuropsychology, 2016
Children with 22q11.2 deletion syndrome (22q11DS; velo-cardiofacial-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.