Full IQ Research Articles

Abnormal Brain Regions in Two-Group Cross-Location Dynamics Model of Autism

Resting-state fMRI studies have suggested that autism spectrum disorder (ASD) is associated with aberrant dynamic changes. However, existing research either has difficulty showing the brain’s dynamic characteristics or cannot obtain stable results. We examined the ‘two-group cross-location hidden Markov model’ of each region of interest (ROI) to identify possible pathogenic features of ASD. Specifically, we selected resting-state fMRI data with complete scales and good quality from Autism Brain Imaging Data Exchange (ABIDEI). Eligible data included 145 ASD and 157 control (CON). Two groups of subjects were separated to train Hidden Markov models representing respective populations. Then, we used each model to estimate the likelihood values of all participants. Using the likelihood value as features, we tested the significant differences of 200 ROIs and finally identified ROIs with common significant differences in the two types of models. Additionally, we investigated the relationship between likelihood values of significantly different ROIs and clinical scales. some ROIs were negatively correlated with the Autism Diagnostic Observation Schedule and positively correlated with full IQ. Finally, we constructed a support vector machine to classify ASD and CON. Overall, our findings suggested that the abnormal areas in the frontopolar area, orbitofrontal area, inferior temporal gyrus, middle temporal gyrus and fusiform gyrus are prominent features of ASD and are closely related to clinical functional decline. The average accuracy rate reached 74.9% after ten cross-validations. This ‘two-group cross-localized Hidden Markov Model’ provides a robust and powerful framework for understanding the dysfunctional brain architecture of ASD.

Impact of maternal prepregnancy body mass index on cognitive and metabolic profiles of singletons born after in vitro fertilization/intracytoplasmic sperm injection

To evaluate the effect of elevated maternal prepregnancy body mass index (BMI) on intelligence and growth of singletons after invitro fertilization (IVF) with or without intracytoplasmic sperm injection (ICSI). Cohort study. University hospital. Singletons born to infertile couples who underwent an autologous IVF/ICSI cycle from 2002 to 2012 and were followed up with at the age of 3-6years from 2009 to2017. We compared the health of offspring born to overweight/obese women and normal weight women through assisted reproductive technology (ART). Age- and sex-specific BMI z-scores, verbal intelligence quotient (VIQ), performance intelligence quotient (PIQ), and full intelligence quotient (FIQ). After adjusting for confounders, obese women were more likely than normal-BMI women to have obese children (20.0% vs. 5.1%), and overweight women had increased risks of having overweight children (13.6% vs. 8.2%) or obese children (10.1% vs. 5.1%) compared with normal-BMI women. Maternal prepregnancy BMI had a weakly negative effect on estimated IQ of children, but after adjusting for parental educational level, the IQ scores of offspring were similar between groups. However, after adjusting for confounders, offspring of obese women showed increased prevalence of intellectual disability (IQ <80) in VIQ (16.9% vs. 8.5%) and FIQ (10.8% vs. 3.9%) compared with normal-BMI women. Maternal prepregnancy obesity is associated with increased risks for obesity and overweight at early ages in offspring conceived through IVF/ICSI and may also affect the risk of intellectual disability of offspring. Overall, we suggest that weight management is essential for women before entering an IVF/ICSI cycle for ensuring long-term child health.

Pitfalls of using IQ short forms in neurodevelopmental disorders: a study in patients with congenital heart disease.

Short forms of IQ (S-IQ) assessments are time efficient and highly predictive of the full IQ (F-IQ) in healthy individuals. To investigate the validity of S-IQs for patients with neurodevelopmental impairments, this study tested a well-established S-IQ version in patients with congenital heart disease (CHD). The Wechsler Intelligence Scale for Children, Fourth Edition was applied in 107 children with complex CHD aged 9-11 years. F-IQ and a well-established S-IQ version were calculated for each patient. The agreement between S-IQ and F-IQ was investigated across the whole spectrum of IQ scores. Finally, we tested a method to adjust IQs to resolve potential bias and validated this method in an independent sample of 55 CHD patients. S-IQ and F-IQ correlated strongly. Nevertheless, the size of the bias correlated with the true IQ, indicating larger error at the tails of the distribution. Estimating a corrected IQ by adjusting the S-IQ with correction parameters substantially improved agreement. We here report that substantial bias may underestimate low IQ scores and overestimate high ones. This bias should be considered when at-risk populations are assessed with S-IQs. Importantly, the bias can be minimized by using a correction formula.

The association between sleep duration and cognitive function in 6-year-old children

TPS 771: Diet and lifestyle, Exhibition Hall, Ground floor, August 26, 2019, 3:00 PM - 4:30 PM Background: Sufficient sleep during childhood is needed for imperative component of cognitive functions such as learning and successful school performance. We aim to investigate the effects of sleep duration on cognitive performance in 6-year-old children. Methods: Among the 645 children recruited the study which was conducted as part of a cohort named “The Environment and Development of Children”, and collected the socioeconomic and environment factors including sleep duration for children from their parents’ questionnaire. Cognitive function included measures of childhood intelligence quotient (IQ) scores (FSIQ) and Social Impairment using the Korean version of the Social Communication Questionnaire (K-SCQ) in children aged 6 years. We examined to investigate the relationship between exposure to sleep duration with continuous variables of IQ scores and social impairment (KSCQ) scores adjusting maternal age, maternal educational level, maternal occupation, maternal IQ, exposure to second-hand smoking, season, Children BMI Z-score, Gestational age, Children’s age. After sex stratified, we compared to the effect the sleep duration on IQ score and Social impairment. Results: We found that longer sleep duration in participants was associated with better performance on measures of full IQ and social impairment. The relative risk of full IQ score and K-SCQ score under 8 hours for meanly sleep duration are 0.95(95% CI: 0.91-0.99, p= 0.037) and 1.46(95% CI: 1.12-1.90) compared to more than 10 hours for sleep duration. After sex stratified, only boys were significantly associated between sleep duration and Full IQ (p=0.007), but not girls (p=0.639). However, among girls were only significant the association between sleep duration and social impairment (p=0.002), but not boys (p=0.467). Conclusions: These findings support the hypothesis that sleep duration is differentially related to some components of cognitive function by sex difference. Future studies should be needed that assess children’s sleep duration pattern and children’ health outcome for prospective cohort.

Metal and essential element levels in hair and association with autism severity

BackgroundAutism Spectrum Disorder (ASD) is a complex disorder with heterogeneous etiology and wide clinical severity which supports the needs of recognizing biological and clinical features in patient subsets. The present study aimed to understand possible associations between the hair levels of metals and essential elements and some specific features of ASD measured by the Autism Diagnostic Observation Schedule (ADOS) that represents the gold-standard instrument to objectively confirm ASD diagnosis. MethodsA cross-sectional study was performed in the province of Catania (Sicily, South Italy). Forty-eight subjects with ASD (70.8% male), aged from 2 to 17 years were studied. Metals (Li, Be, Al, Ni, As, Mo, Cd, Hg, U, Pb) and essential trace elements (Cr, Co, Mn, Zn, Cu, Se) were quantified in hair by inductively coupled plasma mass spectrometry analysis. Participants were characterized by measuring the severity of autism symptoms and cognitive levels. ResultsA significant and positive correlation was found between hair metal burden (lead, aluminum, arsenic and cadmium levels) and severity of ASD symptoms (social communication deficits and repetitive, restrictive behaviors). Hair zinc level were inversely related with age while there was a negative, significant association between hair zinc level and severity of autistic symptoms (defective functional play and creativity and increase of stereotyped behavior). Lead, molybdenum and manganese hair levels were inversely correlated with cognitive level (full intelligence quotient) in ASD individuals. ConclusionsThe present study suggests the importance to combine metallomics analysis with pertinent disease features in ASD to identify potential environmental risk factors on an individual level possibly in the early developmental period.

S5A-07 SESSION 5A: GENERALITIES IN CRANIOSYNOSTOSIS – PART II SMAD6 GENOTYPE PREDICTS NEURODEVELOPMENT IN NON-SYNDROMIC CRANIOSYNOSTOSIS

Introduction: De novo or rare transmitted mutations in the SMAD6 gene interact with common BMP2 variants to affect 7% of non-syndromic midline synostosis (NSC). In addition to cranial abnormalities and brain deformation, neurodevelopmental outcomes may be influenced by genetics. This study aimed to determine the cognitive sequelae of SMAD6 NSC in relation to non-SMAD6 NSC. Methods: Midline NSC patients ≥6 years of age, with SMAD6 mutations (identified in a national genetic study) and age/race/gender/synostosis type/operation matched non-SMAD6 NSC controls were recruited. All patients completed a double-blinded neurodevelopmental battery (Wechsler Fundamentals, Wechsler Abbreviated Scale of Intelligence, Beery-Buktenica Developmental Test) and parents/guardians completed behavioral surveys (Behavior Rating Inventory of Executive Function and Behavior Rating System for Children). Twenty demographic/patient factors, known to influence cognition, were collected. Results: Twenty subjects participated including all ten known SMAD6 patients nationwide (mean age at testing 10.1 years; 1 female; 8 metopic, 2 sagittal; 9 treated with cranial vault remodeling [CVR], 1 strip) and ten matched controls (mean age 9.8 years; 1 female; 8 metopic, 2 sagittal; 9 CVR, 1 strip). There was no significant difference between all 20 demographics. In head to head comparison, SMAD6 cases scored significantly worse on numerical operations (p=0.012), performance IQ (PIQ; p=0.004), full IQ (FIQ, p=0.007), and motor coordination (p=0.007). Individual correlations revealed age at testing, age at surgery, parental education, and household income significantly correlated with cognition. Multiple regressions were performed to control for these 4 variables. SMAD6 patients still performed worse on numerical operations(p=0.046), PIQ(p=0.018), FIQ(p=0.010), motor coordination(p=0.043). On behavioral surveys, SMAD6 scored worse on inhibition(p=0.003), behavior regulation(p=0.032), hyperactivity(p=0.007), aggression(p=0.008), conduct(p=0.029), social skills (p=0.039), and communication(p=0.018). Post-hoc power analysis yielded power between 84.4%>92.4%. Conclusion: This prospective double blind comparison revealed that genetic influences of NSC may play a role in functional neuropsychiatric development. Midline synostosis with SMAD6 mutations led to poorer non-adjusted and adjusted performance on mathematics, performance IQ, full IQ and motor coordination compared to non-SMAD6 NSC. SMAD6 patients had additional behavioral deficits in inhibition, hyperactivity, aggression, conduct, social skills, and communication. Moving forward, genetic testing may serve as a critical advocate for early adjunctive neuropsychiatric therapy in patients with NSC.

Longitudinal Follow-up of Children with Breakfast Consumption on Their IQ (P18-028-19)

ObjectivesResearch has shown that regular breakfast consumption is associated with better cognitive functioning in children. However, most studies are cross-sectional, and measure either breakfast consumption or cognitive function at a single time point. In this 6-year longitudinal follow-up, we analyzed two phases of data collection to assess the effects of regular breakfast consumption at ages 6 and 12 on IQ and academic achievement. MethodsThis longitudinal study is part of the China Jintan Cohort Study. While 1269 children participated in the study at age 6 and 835 children at age 12, 511 children had complete data in both phases of the study. Breakfast habits were assessed through parental questionnaires at age 6, and self-administered questionnaires at age 12. IQ tests at both ages 6 and 12 were conducted with the Chinese version of the Wechsler Intelligence Scale for Children. Multivariate mixed models were utilized to conduct repeated data analysis. ResultsDuring the 6-year follow-up, 484 (94.7%) of 511 participants reported having breakfast ≥ 4 days per week (“always or often”), while only 27 (5.3%) children had breakfast ≤ 3 days per week (“sometimes or less”). After controlling for up to nine covariates, the longitudinal repeated analysis using multivariate mixed model showed that compared to less regular breakfast intake, regular breakfast consumption is associated with 5.537 points increased verbal and 4.349 points increased full IQ score (all P < 0.05). Further analysis utilizing the multivariate generalized linear model showed that children who regularly ate breakfast in either phase 1 or phase 2 were more likely to have higher verbal IQ scores (all P < 0.05) in contrast to their counterparts who did not regularly consume breakfast in either phase. Effects of all selected covariates were adjusted in this multivariate model. ConclusionsIn this 6-year longitudinal follow-up of children who consistently eat breakfast at ages 6 and 12, we show that regular breakfast habits are associated with increasing IQ, particularly verbal IQ. Performance IQ was not significant. Further analysis is necessary to assess whether these effects translate into school performance and scholarly achievement. Funding SourcesNational Institute of Environmental Health Sciences/National Institutes of Health (R01-ES-018858 K02-ES-019878 and K01-ES015877).

SAT-261 Prospective Study of the Association between Early Adrenarche and Cognitive Function in Children with Cushing Disease

Background: Previously, we reported a decline in cognitive scores of children with endogenous Cushing syndrome (CS); however, the generalizability of the findings is limited due to the small sample size. The present study investigated the relationship between change in cognitive scores prior to and one-year post transsphenoidal surgery, with age at initial presentation, duration of illness, and history of premature adrenarche (PA) as covariates. Both cortisol and adrenal androgens have key roles in the organizational and the maturational changes in brain structure and function during adolescence. Method: Prospective study of 41 children (17 females; 12 ±3 yr.) diagnosed with Cushing’s disease (CD), who completed diverse sets of cognitive measures prior to and one-year post-remission: (Wechsler Intelligence Scale for Children (WISC) or Wechsler Adult Intelligence Scale of Intelligence (WASI), Woodcock Johnson Psychoeducational Battery, California Verbal Learning, and Trail making tests. Linear regression of delta change in IQ test scores (from baseline to 1-year remission) with covariates of age, duration of illness, and history of premature adrenarche was used to analyze the data. Results: At baseline, children with CD had average to above average intelligence. Change in scores from baseline to 1-year remission was significant for performance IQ (PIQ), verbal IQ (VIQ), full IQ (FIQ), subsets: information, similarities, arithmetic, vocabulary, coding, and block design (p<0.01). Younger age at baseline with a history of PA was associated with a greater decrement in scores PIQ VIQ FIQ, coding, and block design(p<0.01). At baseline, serum DHEAS levels were discordant with pubertal stage in subjects <14yrs age; this discrepancy resolved at 1-yr remission. Conclusion: Younger age at baseline was a predictor of decrement in all summary IQ measures and some subset measures (picture completion, coding, & block design, arithmetic), (p < 0.01). Older age at presentation was associated with less of a decline in cognitive function measures, which suggests that after a return to eucortisolemia, the response of older adolescents is more similar to adult CD patients. At baseline, younger children with CD had DHEAS levels discordant with pubertal stage and were more likely to experience cognitive decrement after remission, suggesting that timing of adrenarche is an important moderator of cognitive function in children with CD.

Female carrier with DMD mutation manifesting only asymptomatic hyperCKemia and psychiatric problems

AbstractWe report the case of a 64‐year‐old woman with dystrophinopathy exhibiting asymptomatic hyperCKemia and psychiatric symptoms only. Since adolescence, she had experienced communication difficulties and anxiety neurosis, which kept her unemployed and once led her to attempt suicide. Her full intelligence quotient was 89, with relatively low scores in processing speed and working memory, because of attention/concentration deficit or obsession. She has a nephew with severe dystrophinopathy, and both of them had duplication of exon 44 of the DMD gene, encoding dystrophin. Her mother became wheelchair user at age 60, and was suspected to have some psychiatric problems since she neglected her own ailing child. The cognitive and mental states of women with dystrophinopathy should be paid more attention to since such problems may manifest due to dystrophin deficit.

Fluency in symbolic arithmetic refines the approximate number system in parietal cortex.

The objective of this study was to investigate, using a brain measure of approximate number system (ANS) acuity, whether the precision of the ANS is crucial for the development of symbolic numerical abilities (i.e., scaffolding hypothesis) and/or whether the experience with symbolic number processing refines the ANS (i.e., refinement hypothesis). To this aim, 38 children solved a dot comparison task inside the scanner when they were approximately 10-years old (Time 1) and once again approximately 2 years later (Time 2). To study the scaffolding hypothesis, a regression analysis was carried out by entering ANS acuity at T1 as the predictor and symbolic math performance at T2 as the dependent measure. Symbolic math performance, visuospatial WM and full IQ (all at T1) were entered as covariates of no interest. In order to study the refinement hypothesis, the regression analysis included symbolic math performance at T1 as the predictor and ANS acuity at T2 as the dependent measure, while ANS acuity, visuospatial WM and full IQ (all at T1) were entered as covariates of no interest. Our results supported the refinement hypothesis, by finding that the higher the initial level of symbolic math performance, the greater the intraparietal sulcus activation was at T2 (i.e., more precise representation of quantity). To the best of our knowledge, our finding constitutes the first evidence showing that expertise in the manipulation of symbols, which is a cultural invention, has the power to refine the neural representation of quantity in the evolutionarily ancient, approximate system of quantity representation.

Preschoolers' Technology-Assessed Physical Activity and Cognitive Function: A Cross-Sectional Study.

Early childhood is a critical period for development of cognitive function, but research on the association between physical activity and cognitive function in preschool children is limited and inconclusive. This study aimed to examine the association between technology-assessed physical activity and cognitive function in preschool children. A cross-sectional analysis of baseline data from the Physical Activity and Cognitive Development Study was conducted in Shanghai, China. Physical activity was measured with accelerometers for 7 consecutive days, and cognitive functions were assessed using the Chinese version of Wechsler Young Children Scale of Intelligence (C-WYCSI). Linear regression analyses were used to assess the association between physical activity and cognitive function. A total of 260 preschool children (boys, 144; girls, 116; mean age: 57.2 ± 5.4 months) were included in analyses for this study. After adjusting for confounding factors, we found that Verbal Intelligence Quotient, Performance Intelligence Quotient, and Full Intelligence Quotient were significantly correlated with light physical activity, not moderate to vigorous physical activity, in boys. Standardized coefficients were 0.211, 0.218, and 0.242 (all p < 0.05) in three different models, respectively. However, the correlation between physical activity and cognitive functions were not significant in girls (p > 0.05). These findings suggest that cognitive function is apparently associated with light physical activity in boys. Further studies are required to clarify the sex-specific effect on physical activity and cognitive functions.

Intellectual factors in false memories of patients with schizophrenia

The current study explored the intellectual factors in false memories of 139 patients with schizophrenia, using a recognition task and an IQ test. The full-scale IQ score of the participants ranged from 57 to 144 (M = 100, SD = 14). The full IQ score had a negative correlation with false recognition in patients with schizophrenia, and positive correlations with high-confidence true recognition and discrimination rates. Further analyses with the subtests’ scores revealed that false recognition was negatively correlated with scores of performance IQ (and one of its subtests: picture arrangement), whereas true recognition was positively correlated with scores of verbal IQ (and two of its subtests: information and digit span). High-IQ patients had less false recognition (overall or high-confidence false recognition), more high-confidence true recognition, and higher discrimination abilities than those with low IQ. These findings contribute to a better understanding of the cognitive mechanism in false memory of patients with schizophrenia, and are of practical relevance to the evaluation of memory reliability in patients with different intellectual levels.

Neuropsychological profile in Italian children with neurofibromatosis type 1 (NF1) and their relationships with neuroradiological data: Preliminary results.

Neurofibromatosis type 1 is a genetic disorder associated with cognitive deficits, learning disabilities and behavioral problems. These domains appear to have a still controversial debated association with local areas of T2-hyperintensities on MRI images, called unidentified bright objects (UBOs). A cohort of 36 children (aged 7-11 years) included consecutively, underwent neuropsychological and behavioral assessment to determine their cognitive and neuropsychological profile, and the frequency of specific learning disabilities. MRI examination was used to determine the impact of UBOs' presence, number, and location on the cognitive, neuropsychological and behavioral profile, and also the presence of optic glioma. The mean full intelligence quotient was 104.6; only one child had mild intellectual disability. Forty one percent of children had a diagnosis of specific learning disabilities and reading was mainly involved. Twenty per cent had attention problems. All children had normal scores in visuo-motor and visuo-perceptual tests. UBOs were present in 94.0% of the MRI examinations. Two children had optic glioma. Children with UBOs in a specific location and children with UBOs elsewhere were statistically compared, no one of the location seemed to have an impact on general cognition measured with full intelligence quotient. The thalamus was associated with problems in calculation and striatum with behavioral problems. An inverse relationship between the number of UBOs and the full intelligence quotient was present, but without a statistical significance. In this study, the specific location of UBOs did not seem to influence the general cognitive profile and also the relationship between their number and the full intelligence quotient was not significant; these results are still controversial in literature. Finally, the presence of UBOs in the thalamus and striatum may represent a neuroradiological pattern that influences performances in calculation and behavior respectively in children with Neurofibromatosis type 1.

F148. A PILOT STUDY OF [11C] (R)-MEQAA PET BRAIN IMAGING ANALYSIS OF ALPHA 7 NICOTINIC ACETYLCHOLINE RECEPTORS AVAILABILITY IN SCHIZOPHRENIA

BackgroundA growing body of evidence suggests that the aberrant cholinergic system may underlie the pathophysiology in schizophrenia. Nicotinic acetylcholine receptor (nAChR) subtype α7 (henceforth ‘α7 nAChR’) is located in presynaptic and postsynaptic constructs in the cerebral cortex and considered to play a key role in the regulation of learning and memory. Additionally, α7 nAChR is deemed to exert neuroprotective effects. Therefore, α7 nAChR is one of the potent therapeutic targets for negative symptoms and cognitive impairment in schizophrenia. In effect, several randomised trials to assess the efficacy and safety of α7 nAChR agonists are currently underway.There is some evidence in support of aberrant α7 nAChR in schizophrenia. In postmortem studies, protein levels of α7 nAChR in the frontal cortex (Guan et al., 1999) have been reported to be decreased in patients with schizophrenia. However, the availability of α7 nAChR in individuals with schizophrenia has yet to be examined in vivo. In this pilot study, we aim to clarify availability of α7 nAChR in the brains of patients with schizophrenia using positron emission tomography (PET) with a ligand of [11C](R)-2-methylamino-benzoic acid 1-aza-bicyclo[2.2.2]oct-3-yl ester ([11C](R)-MeQAA).MethodsAll participants provided informed consent. Inclusion criteria included diagnosis of schizophrenia according to the Diagnostic and Statistical Manual of Mental Disorders-Fifth Edition (DSM-5, 2013). Patients were excluded if they had (1) full IQ under 69 measured with the Wechsler Adult Intelligent Scale-III; (2) current or past history of tobacco smoking; (3) history of neurological disorder or structural brain abnormality; (4) use of benzodiazepines, antidepressants, or anticholinergics in the past 6 months; and (5) substance abuse. Although scanning drug-free or drug-naïve patients for investigation is optimal, it is extremely difficult to attain this. Consequently, participants with schizophrenia comprised medicated cases.We evaluated the availability of α7 nAChR by estimating non-displaceable binding potential (BPND) of the tracer using PET with [11C] (R)-MeQAA, a selective PET tracer for α7 nAChR. Four patients with schizophrenia (age: range 27–39; m/f: 2/2) and 5 age-matched healthy adults (age: range 22–32; m/f: 2/3) underwent the PET scan. The level of BPND in patients with schizophrenia was compared with that for control participants by applying regions of interest (ROIs) approach. In this pilot study, we opted for 4 cortical areas, the superior frontal, middle frontal, parietal, and temporal cortices, for ROIs. This study was approved by the Hamamatsu University School of Medicine Ethics Committee.ResultsWe found the levels of [11C] (R)-MeQAA BPND significantly lower in the middle frontal cortex (p = 0.036) in patients with schizophrenia. Additionally, there was a trend towards a decreased level of BPND in the temporal cortex (p = 0.067) and parietal cortex (p = 0.087) in the brains of schizophrenia patients, although it failed to reach statistical significance. There was no difference in the superior frontal cortex.DiscussionTo our knowledge, this represents the first demonstration of anomalies in the acetylcholinergic system in the in vivo brains of schizophrenia patients. However, this is regarded as a pilot study, and further recruitment of schizophrenia patients with a recent onset and minimal use of antipsychotic medication, followed by scanning and data analyses, will be continued.

Limitations of a Short Demographic Questionnaire for Bedside Estimation of Patients' Global Cognitive Functioning in Epilepsy Patients.

The German socio-demographic estimation scale was developed by Jahn et al. (1) to quickly predict premorbid global cognitive functioning in patients. So far, it has been validated in healthy adults and has shown a good correlation with the full and verbal IQ of the Wechsler Adult Intelligence Scale (WAIS) in this group. However, there are no data regarding its use as a bedside test in epilepsy patients. Forty native German speaking adult patients with refractory epilepsy were included. They completed a neuropsychological assessment, including a nine scale short form of the German version of the WAIS-III and the German socio-demographic estimation scale by Jahn et al. (1) during their presurgical diagnostic stay in our center. We calculated means, correlations, and the rate of concordance (range ±5 and ±7.5 IQ score points) between these two measures for the whole group, and a subsample of 19 patients with a global cognitive functioning level within 1 SD of the mean (IQ score range 85-115) and who had completed their formal education before epilepsy onset. The German demographic estimation scale by Jahn et al. (1) showed a significant mean overestimation of the global cognitive functioning level of eight points in the epilepsy patient sample compared with the short form WAIS-III score. The accuracy within a range of ±5 or ±7.5 IQ score points for each patient was similar to that of the healthy controls reported by Jahn et al. (1) in our subsample, but not in our whole sample. Our results show that the socio-demographic scale by Jahn et al. (1) is not sufficiently reliable as an estimation tool of global cognitive functioning in epilepsy patients. It can be used to estimate global cognitive functioning in a subset of patients with a normal global cognitive functioning level who have completed their formal education before epilepsy onset, but it does not reliably predict global cognitive functioning in epilepsy patients in general, who often do not fulfill these criteria. It is therefore not a useful tool to be applied in the general neuropsychological presurgical evaluation of epilepsy patients.

Continuous performance test in children with intellectual disability and attention deficit hyperactivity disorder

ABSTRACTData regarding clinical and neuropsychological features of attention deficit in children with lower cognitive ability is still scarce. The objective was to analyze the response patterns on the Continuous Performance Test II in children with Intellectual Disability and Attention Defficit Hyperactivity Disorder (ADHD). This is a cross-sectional study, in which patients were divided into 2 groups: one group with ADHD and Full IQ > 80 and another group with ADHD + Full IQ score < 80. They were afterwards administered the CPT II (Continuous Performance Test). A total of 215 children were included in the study, 57% of them with ADHD IQ > 80 and 43% with ADHD + Lower Intellectual Performance (LIP). Patients with ADHD and Lower Intellectual Performance presented more omissions error, slower reaction time and greater variability in the performance as the tests progresses, as well as worse stimulus detection and discrimination capacity. The results observed supply new information for the proper understanding of the functioning of attention processes in a poorly studied population.

Motor Deficit Severity Mediates Effects of Intellectual Function in Predicting Speech Motor Control in Children with Cerebral Palsy

Objective: To elucidate whether motor deficit severity mediates effects of intellectual function in predicting motor speech functions in children with cerebral palsy (CP). Method: Twenty-five children with spastic CP aged 5-8 were classified into two groups, levels I-II (n=13) and levels III-IV(n=12) based on Gross Motor Function Classification System (GMFCS) levels. Predictor was the intelligence quotient (IQ). Speech outcome measures were Percentage of Consonants Correct (PCC) and Verbal Motor Production Assessment for Children (VMPAC). Pearson correlation analysis was used to investigate relationships between IQ and speech outcomes. A mediation analysis (a three-variable path model) was used to explain how GMFCS levels (the mediator) affect IQ to predict speech outcome. Results: Children with GMFCS levels I-II had greater scores in all IQ and all VMPAC sub scores, and PCC than those with GMFCS levels III-IV (p<0.05). Pearson correlation analysis showed that full IQ (FIQ) was correlated with all VMPAC scores (r=0.42-0.62, p<0.05), but not with PCC scores. The path model assumes path a from the predictor variable (FIQ) to the mediator (GMFCS levels), path b from the impact of the mediator (GMFCS levels) on the outcome variable (VMPAC), and two causal paths to the outcome variable (paths c and c'). Mediation analysis revealed that GMFCS level completely mediated the effect of FIQ when predicting global motor control (a=-0.027 ± 0.01, p=0.01; b=-17.910 ± 3.620, p<0.001; c=0.537 ± 0.235, p=0.032; c'=0.058 ± 0.192, p=0.766), focal motor control (a=-0.027 ± 0.01, p=0.01; b=-9.287 ± 2.441, p=0.001; c=0.315 ± 0.140, p=0.035; c'=0.067 ± 0.129, p=0.611), and average VMPAC (a=-0.027 ± 0.01, p=0.01; b=-10.976 ± 2.521, p<0.001; c=0.455 ± 0.154, p=0.007; c'=0.161 ± 0.133, p=0.241). GMFCS level partially mediated the effect of FIQ when predicting the VMPAC sequence (a=-0.027 ± 0.01, p=0.01; b=-5.732 ± 2.767, p=0.050; c=0.512 ± 0.135, p=0.001; c'=0.359 ± 0.146, p=0.023). Conclusion: Motor deficit severity mediates effect of intellectual functions on speech motor control. The findings allow clinicians to identify early motor speech problems in children with CP using the GMFCS level alone.

NEUROPSYCHOBIOLOGICAL MECHANISMS OF AFFECTIVE AND COGNITIVE DISORDERS IN THE CHORNOBYL CLEAN-UP WORKERS TAKING INTO ACCOUNT THE SPECIFIC GENE POLYMORPHISMS.

Relevance of the present work is determined by the considerable prevalence of both affective and cognitive disor-ders in the victims due to the Chornobyl accident, the pathogenesis of which is insufficiently studied.Objective is to identify the neuropsychiobiological mechanisms of the formation of the remote affective and cog-nitive disorders following exposure to ionizing radiation taking into account the specific gene polymorphisms.Design, object and methods of research. The retrospective and prospective cohort study with the external andinternal control groups. The randomized sample of the male participants in liquidation of the consequences of theaccident (Chornobyl clean-up workers, liquidators) at the Chornobyl nuclear power plant (ChNPP) in 1986-1987(n = 198) recruited from the Clinico-epidemiological registry (CER) of NRCRM aged 39-87 (M ± SD: 60.0-8.5 years)with the external irradiation dose ranged 0.6-5900.0 mSv (M ± SD: 456.0 ± 760.0 mSv) was examined. The compar-ison group (n = 110) consisted of the unexposed patients of the Radiation Psychoneurology Department with thecorresponding age and sex (the external control group). The internal control group included the liquidators irradi-ated at doses < 50.0 mSv (n = 42). The standard diagnostic neuropsychiatric scales, psychodiagnostic questionnairesand tests, neuropsychological methods (including the Wechsler Adult Intelligence Scale (WAIS) with premorbid IQ(pre-IQ) assessment), neuropsychiatric and psychophysiological methods (quantitative EEG (qEEG) and the audito-ry cognitive evoked potentials (Event-Related Potentials, ERP) were applied. The genotypes of the serotonin trans-porter gene SLC6A4 were determined by the 5_HTTLPR and rs25531 polymorphisms. The methods of descriptive and vari-ation statistics, non-parametric criteria, regression-correlation analysis, survival analysis by Kaplan - Meier and riskanalysis were used.Results. Cerebrovascular diseases, organic mental and depressive disorders, mainly of radiation-stress-relatednature, prevail among the liquidators. The overall risk of neuropsychiatric pathology increases (Pv < 0.001) with theirradiation dose. The verbal memory and learning are impaired, as well as the full IQ is reduced at the expense of theverbal one. The frequency of both mild cognitive impairment and dementia is risen. The cognitive impairment atdoses > 0.3 Sv is dose-dependent (r = 0.4-0.7; p = 0.03-0.003). Affective disorders (depression) and neurocogni-tive deficit are more severe at higher doses of irradiation (> 50 mSv). In the left posterior temporal region(Wernicke's area) the qEEG indices changes become dose-dependent at doses greater than 0.25-0.3 Sv. The dis-turbed brain information processes lateralized to the Wernicke's area are observed even at doses > 50 mSv. The car-riers of intermediate and low-level genotypes (LА/S, LА/LG, LG/LG, LG/S, S/S) of the serotonin transporter gene SLC6A4have more depressive disorders, especially severe ones, and tend to have more frequent and severe cognitive andstress-related disorders.The debut of depressive disorders in the carriers of the intermediate and low-activity genotypes occurs much earli-er (Log-Rank Test = 4.43, p = 0.035) in comparison with the carriers of the high-performance genotype LА/ LА.Conclusions. The radiation-induced dysfunction of the cortico-limbic system in the left dominant hemisphere ofthe human brain with a specific involvement of the hippocampus is considered to be the key cerebral basis of post-radiation organic brain damage. The association of genotypes by 5_HTTLPR and rs25531 polymorphisms of the SLC6A4gene with affective and cognitive disorders suggests the presence of neuropsychobiological features of these dis-orders associated with ionizing radiation depending on the certain gene polymorphisms.

Cognition in patients with benign epilepsy with centrotemporal spikes: A study with long-term VEEG and RS-fMRI

ObjectiveThe purpose of this study was to investigate the relationship between alterations of functional brain network and cognition in patients with benign epilepsy with centrotemporal spikes (BECTS) as a function of spike-wave index (SWI) during slow wave sleep. MethodsResting-state functional magnetic resonance imaging (RS-fMRI) data and Intelligence Quotient (IQ) were collected from two groups of patients with BECTS, including a SWI<50% group (5 cases) and a SWI≥50% group (7 cases). The SWI was calculated from the long-term video-electroencephalogram monitoring (one sleep cycle was included at least). The RS-fMRI data were analyzed by regional homogeneity (ReHo) method. ResultsThere were three main findings. Firstly, Full Intelligence Quotient (FIQ), Verbal Intelligence Quotient (VIQ), and Performance Intelligence Quotient (PIQ) of the SWI≥50% group were significantly lower than SWI<50% group (p<0.05). Secondly, there was a negative correlation between the FIQ, VIQ, PIQ, and SWI (p<0.05), and the FIQ, VIQ, and PIQ were not dependent on age, age of onset, disease course, years of education, and total number of seizures (p>0.05). Finally, compared with the SWI<50% group, the SWI≥50% group showed increased ReHo in the bilateral precentral gyrus, bilateral premotor area, bilateral subcortical structure, right temporal lobe, and bilateral insular lobe, while they showed decreased ReHo in the posterior cingulate cortex and posterior of right inferior temporal lobe. ConclusionsThe alterations of functional brain network caused by the frequent discharges during slow wave sleep could affect cognition in patients with BECTS.

The natural history of the patients with Duchenne muscular dystrophy in Taiwan: A medical center experience

Duchenne muscular dystrophy (DMD) is the most common hereditary muscular dystrophy and caused by DMD gene mutation. In addition to progressive proximal muscle weakness, respiratory, orthopedic, and gastrointestinal complications are often observed in DMD. The natural history of patients with DMD in Taiwan has not been reported thus far. Medical records of 39 patients who received a diagnosis of DMD between 1999 and 2016 at Kaohsiung Medical University Hospital were reviewed. The diagnosis of DMD was confirmed through muscle biopsy or DMD genetic analysis. The mean onset age and mean follow-up period were 2.75 years and 6.76 years, respectively. Seventeen patients (43.5%) had a family history of DMD. The mean full intelligence quotient of the patients was 71.08, and the mean age of walking ability loss was 9.7 years (25 patients). The mean onset age of respiratory insufficiency was 10.64 years with a decline rate of 5.18% per year (25 patients). The mean onset age of cardiomyopathy was 14.69 years (seven patients). The mean onset age of scoliosis was 13.29 years with a progression rate of 11.48° per year (14 patients). Eleven (28.2%) and eight (20.5%) patients had deletions and duplications of DMD, respectively. Fourteen patients (35.9%) had point mutations or small deletions or insertions. Five patients received only multiplex ligation-dependent probe amplification (MLPA) analysis and exhibited neither deletion nor duplication. No mutation was identified in one patient through both MLPA and exon sequencing. The clinical phenotypes and disease course in our cohort were consistent with that reported in previous studies. However, the proportion of point mutations or small deletions or insertions in our study was considerably higher than that in reports from other populations. Cardiac ejection fraction was found not a reliable biomarker for identifying cardiac problems, discovering a better parameter is necessary.