Self- and informant-reported executive function in young adults operated for atrial or ventricular septal defects in childhood

2022 ◽  
pp. 1-8
Author(s):  
Yasmin S. El Dabagh ◽  
Benjamin Asschenfeldt ◽  
Benjamin Kelly ◽  
Lars Evald ◽  
Vibeke E. Hjortdal
Keyword(s):  
Executive Function ◽  
Executive Functions ◽  
Psychiatric Disorders ◽  
Heart Defects ◽  
Executive Dysfunction ◽  
Ventricular Septal Defects ◽  
Educational Levels ◽  
Septal Defects ◽  
Increased Risk ◽  
Behavior Rating Inventory

Abstract Background: Adults with simple congenital heart defects (CHD) have increased risk of neurodevelopmental challenges including executive dysfunction. It is unknown if the executive dysfunction is universal or if it is driven by dysfunction in specific clinical subscales and how it might affect psychosocial aspects of everyday life. Methods: The self-reported and informant-reported executive function of adults with an average age of 26 ± 5 (range 18–41) who underwent childhood surgery for atrial septal defects (n = 34) or ventricular septal defects (n = 32) and matched controls (n = 40) were evaluated using the Behavior Rating Inventory of Executive Functions - Adult version (BRIEF-A). Results: The CHD group reported having more executive dysfunction than controls in all BRIEF-A clinical subscales (p < 0.020) and more than their informants reported on their behalf (p < 0.006). The CHD group had received three times more special teaching (44% compared to 16%) and pedagogical psychological counselling (14% compared to none) and had a three times higher occurrence of psychiatric disorders than controls (33% compared to 11%). Lower educational levels and psychiatric disorders were associated with higher BRIEF-A scores (p < 0.03). Conclusions: Adults operated for septal defects in childhood report more challenges with all aspects of the executive functions than controls and more than relatives are aware of.

scholarly journals First report of polymorphisms in MTRR, GATA4, VEGF, and ISL1 genes in Pakistani children with isolated ventricular septal defects (VSD)

2021 ◽  
Vol 47 (1) ◽  
Author(s):  
Sumbal Sarwar ◽  
Farah Ehsan ◽  
Shabana ◽  
Amna Tahir ◽  
Mahrukh Jamil ◽  
...  
Keyword(s):  
Heart Development ◽  
Heart Defects ◽  
Demographic Data ◽  
Gene Variant ◽  
Nucleotide Polymorphisms ◽  
Ventricular Septal Defects ◽  
First Report ◽  
Number Of Children ◽  
Septal Defects ◽  
Genotype Frequencies

Abstract Background Ventricular septal defects (VSDs) are malformations in the septum separating the heart’s ventricles. VSDs may present as a single anomaly (isolated/nonsyndromic VSD) or as part of a group of phenotypes (syndromic VSD). The exact location of the defect is crucial in linking the defect to the underlying genetic cause. The number of children visiting cardiac surgery units is constantly increasing. However, there are no representative data available on the genetics of VSDs in Pakistani children. Methods Two hundred forty-two subjects (121 VSD children and 121 healthy controls) were recruited from pediatric cardiac units of Lahore. The clinical and demographic data of the subjects were collected. A total of four SNPs, one each from MTRR, GATA4, VEGF, and ISL1 genes were genotyped by PCR-RFLP. Results The results showed that the minor allele (T) frequency (MAFs) for the MTRR gene variant rs1532268 (c.524C > T) was 0.20 and 0.41 in the controls and the cases, respectively, with the genotype frequencies 3, 35, 62% in the controls and 12, 59 and 29% in the cases for TT, CT, CC genotypes, respectively (allelic OR: 5.73, CI: 3.82–8.61, p-value: 5.11 × 10− 7). For the GATA4 variant rs104894073 (c.886G > A), the MAF for the controls and the cases was 0.16 and 0.37, respectively, the frequencies of AA, GA and GG genotypes were 2, 28, and 70% in the controls and 5, 64 and 31% of the cases (allelic OR: 3.08, CI: 2.00–4.74, p-value: 8.36 × 10− 8). The rs699947 (c.-2578C > A) of VEGF gene showed MAF 0.36 and 0.53 for the controls and cases, respectively, with the genotype frequencies 13, 42, and 45% in the controls and 22, 15, and 63% in the cases for the AA, CA, CC (allelic OR: 2.03, CI: 1.41–2.92, p-value: 0.0001). The ISL1 gene variant rs6867206 (g.51356860 T > C), the MAFs were 0.26 and 0.31 in the controls and cases, respectively. The genotype frequencies were 48, 52, 0% in the controls and 39, 61, 0% in the cases for TT, TC, CC genotypes (allelic OR: 0.27, CI: 0.85–1.89, p-value: 0.227). The MTRR, GATA4 and VEGF variants showed association while ISL1 variant did not appear to be associated with the VSD in the recruited cohort. Conclusion This first report in Pakistani children demonstrates that single nucleotide polymorphisms in genes encoding transcription factors, signaling molecules and structural heart genes involved in fetal heart development are associated with developmental heart defects., however further work is needed to validate the results of the current investigation.

Executive functions in children with heart disease: a systematic review and meta-analysis

2021 ◽  
pp. 1-9
Author(s):  
William M. Jackson ◽  
Nicholas Davis ◽  
Johanna Calderon ◽  
Jennifer J. Lee ◽  
Nicole Feirsen ◽  
...  
Keyword(s):  
Systematic Review ◽  
Executive Functions ◽  
Data Extraction ◽  
Meta Analysis ◽  
Executive Dysfunction ◽  
Cochrane Library ◽  
Planning Problem ◽  
Healthy Controls ◽  
Cross Sectional ◽  
Increased Risk

Abstract Context: People with CHD are at increased risk for executive functioning deficits. Meta-analyses of these measures in CHD patients compared to healthy controls have not been reported. Objective: To examine differences in executive functions in individuals with CHD compared to healthy controls. Data sources: We performed a systematic review of publications from 1 January, 1986 to 15 June, 2020 indexed in PubMed, CINAHL, EMBASE, PsycInfo, Web of Science, and the Cochrane Library. Study selection: Inclusion criteria were (1) studies containing at least one executive function measure; (2) participants were over the age of three. Data extraction: Data extraction and quality assessment were performed independently by two authors. We used a shifting unit-of-analysis approach and pooled data using a random effects model. Results: The search yielded 61,217 results. Twenty-eight studies met criteria. A total of 7789 people with CHD were compared with 8187 healthy controls. We found the following standardised mean differences: −0.628 (−0.726, −0.531) for cognitive flexibility and set shifting, −0.469 (−0.606, −0.333) for inhibition, −0.369 (−0.466, −0.273) for working memory, −0.334 (−0.546, −0.121) for planning/problem solving, −0.361 (−0.576, −0.147) for summary measures, and −0.444 (−0.614, −0.274) for reporter-based measures (p < 0.001). Limitations: Our analysis consisted of cross-sectional and observational studies. We could not quantify the effect of collinearity. Conclusions: Individuals with CHD appear to have at least moderate deficits in executive functions. Given the growing population of people with CHD, more attention should be devoted to identifying executive dysfunction in this vulnerable group.

scholarly journals Psychiatric Disorders and Distal 21q Deletion—A Case Report

2020 ◽  
Vol 17 (9) ◽  
pp. 3096
Author(s):  
Wolfgang Briegel ◽  
Juliane Hoyer
Keyword(s):  
Case Report ◽  
Effective Treatment ◽  
Psychiatric Disorders ◽  
Heart Defects ◽  
Substantial Contribution ◽  
Partial Deletion ◽  
Psychiatric Assessment ◽  
Oppositional Defiant ◽  
Increased Risk

Partial deletion of chromosome 21q is a very rare genetic condition with highly variable phenotypic features including heart defects, high or cleft palate, brain malformations (e.g., cerebral atrophy), developmental delay and intellectual disability. So far, there is very limited knowledge about psychiatric disorders and their effective treatment in this special population. To fill this gap, the authors present the case of an initially five-year-old girl with distal deletion (del21q22.2) and comorbid oppositional defiant disorder (main psychiatric diagnosis) covering a period of time of almost four years comprising initial psychological/psychiatric assessment, subsequent treatment with Parent–Child Interaction Therapy (PCIT), and follow-up assessments. Post-intervention results including a 19-month follow-up indicated good overall efficacy of PCIT and high parental satisfaction with the treatment. This case report makes a substantial contribution to enhancing knowledge on psychiatric comorbidity and its effective treatment in patients with terminal 21q deletion. Moreover, it emphasizes the necessity of multidisciplinarity in diagnosis and treatment due to the variety of anomalies associated with 21q deletion. Regular screenings for psychiatric disorders and (if indicated) thorough psychological and psychiatric assessment seem to be reasonable in most affected children, as children with developmental delays are at increased risk of developing psychiatric disorders. As demonstrated with this case report, PCIT seems to be a good choice to effectively reduce disruptive behaviors in young children with partial deletion of chromosome 21q.

scholarly journals Association of Sleep Quality on Memory-Related Executive Functions in Middle Age

2017 ◽  
Vol 24 (1) ◽  
pp. 67-76 ◽  
Author(s):  
Brinda K. Rana ◽  
Matthew S. Panizzon ◽  
Carol E. Franz ◽  
Kelly M. Spoon ◽  
Kristen C. Jacobson ◽  
...  
Keyword(s):  
Working Memory ◽  
Executive Function ◽  
Episodic Memory ◽  
Sleep Quality ◽  
Executive Functions ◽  
Later Life ◽  
Set Shifting ◽  
Interference Control ◽  
Visual Spatial ◽  
Increased Risk

AbstractObjectives: Sleep quality affects memory and executive function in older adults, but little is known about its effects in midlife. If it affects cognition in midlife, it may be a modifiable factor for later-life functioning. Methods: We examined the association between sleep quality and cognition in 1220 middle-aged male twins (age 51–60 years) from the Vietnam Era Twin Study of Aging. We interviewed participants with the Pittsburgh Sleep Quality Index and tested them for episodic memory as well as executive functions of inhibitory and interference control, updating in working memory, and set shifting. Interference control was assessed during episodic memory, inhibitory control during working memory, and non-memory conditions and set shifting during working memory and non-memory conditions. Results: After adjusting for covariates and correcting for multiple comparisons, sleep quality was positively associated with updating in working memory, set shifting in the context of working memory, and better visual-spatial (but not verbal) episodic memory, and at trend level, with interference control in the context of episodic memory. Conclusions: Sleep quality was associated with visual-spatial recall and possible resistance to proactive/retroactive interference. It was also associated with updating in working memory and with set shifting, but only when working memory demands were relatively high. Thus, effects of sleep quality on midlife cognition appear to be at the intersection of executive function and memory processes. Subtle deficits in these age-susceptible cognitive functions may indicate increased risk for decline in cognitive abilities later in life that might be reduced by improved midlife sleep quality. (JINS, 2018, 24, 67–76)

scholarly journals A-042 Incongruence Between Self- and Parent- Report Measures of Executive Function on the Behavior Rating Inventory of Executive Function (BRIEF) in Adolescents with Attention Deficit Hyperactivity Disorder

2020 ◽  
Vol 35 (6) ◽  
pp. 832-832
Author(s):  
Garagozzo A ◽  
Hunter S ◽  
Smith D
Keyword(s):  
Executive Function ◽  
Interrater Reliability ◽  
Color Word ◽  
Executive Dysfunction ◽  
Parent Report ◽  
Self Report ◽  
Clinical Database ◽  
Hyperactivity Disorder ◽  
Behavior Rating Inventory ◽  
The Relationship

Abstract Objective Research has demonstrated that adolescents with ADHD show executive dysfunction, although they do not always endorse such difficulties. We investigated inter-rater agreement between parent- and self-reported executive function (EF) in adolescents with ADHD, using the BRIEF. We also sought to investigate the relationship between scores on parent and self-report EF measures with performance on objective EF measures. Method Utilizing a clinical database, we identified 75 participants (13-17 years; Mage = 14.9; 60% male; 27% African American, 63% White, 3% Hispanic, 7% Other) with a diagnosis of ADHD. We examined inter-rater reliability between parent and self-reported factors on the BRIEF. We then examined the association between parent and self-report BRIEF Inhibition scores and the D-KEFS Color Word Interference (CWI) Inhibition trial, and parent and self-report BRIEF Shift scores and the D-KEFS CWI Inhibition/Switching trial and Trails Letter Number Sequencing trial. Results Significant associations were found between parent and self-ratings on BRIEF Inhibition (ICC = .22; 95% CI = -.24-.50), Shift (ICC = .24; 95% CI = -.21-.52), Emotional Control (ICC = .45, 95% CI = .137-.655), Plan/Organize (ICC = -.143; 95% CI = -.81–28), and Working Memory (ICC = -.193; 95% CI = -.89-.25) subscales. Correlation comparisons were significant for BRIEF self-report Inhibition and CWI Inhibition (r(73) = −.405, p = .000) only. Conclusion Results support standing findings regarding poor interrater reliability between parent and self-ratings of daily executive functioning in adolescents with ADHD. Self-report was seen to correlate with performance on objective EF tasks. Clinically, these results highlight the need for multidimensional assessment of ADHD in adolescents.

Turner Syndrome With Unusual Conotruncal Defect

PEDIATRICS ◽  
1993 ◽  
Vol 92 (3) ◽  
pp. 456-457
Author(s):  
LUCA ROSTI ◽  
PIERLUIGI FESTA ◽  
ALESSANDRO FRIGIOLA ◽  
DARIO ROSTI
Keyword(s):  
Turner Syndrome ◽  
X Chromosome ◽  
Heart Defects ◽  
Ovarian Tissue ◽  
Cystic Hygroma ◽  
Ventricular Septal Defects ◽  
Renal Anomalies ◽  
Septal Defects ◽  
High Prevalence ◽  
Left Heart Syndrome

The Turner syndrome is a frequently occurring chromosomal syndrome. It is characterized by X monosomy, mosaicism 45X/46XX, partial deletion of X chromosome, and various rearrangements of X chromosome, leading to several clinical features and congenital anomalies: short stature, webbing of the neck (pterygium colli), nuchal cystic hygroma, hypogonadism, with absent ovarian tissue, and renal anomalies.1 Congenital heart defects occur often in the Turner syndrome1,2; there is a high prevalence of coarctation of the aorta3-5 and bicuspid aortic valve6; ventricular septal defects, atrial septal defects, and hypoplastic left heart syndrome are less frequent.7,8 Conotruncal defects have never been reported, to our knowledge, in patients with the Turner syndrome.

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