Low Intellectual Quotient Research Articles

Neurocognition and brain functional connectivity in a non-clinical population-based sample with psychotic experiences

We characterized the neurocognitive profile of communed-based individuals and unaffected siblings of patients with psychosis from Brazil reporting psychotic experiences (PEs). We also analyzed associations between PEs and the intra and inter-functional connectivity (FC) in the Default Mode Network (DMN), the Fronto-Parietal Network (FPN) and the Salience Network (SN) measured by functional magnetic resonance imaging. The combined sample of communed-based individuals and unaffected siblings of patients with psychosis comprised 417 (neurocognition) and 85 (FC) volunteers who were divided as having low (<75th percentile) and high (≥75th percentile) PEs (positive, negative, and depressive dimensions) assessed by the Community Assessment of Psychic Experiences. The neurocognitive profile and the estimated current brief intellectual quotient (IQ) were assessed using the digit symbol (processing speed), arithmetic (working memory), block design (visual learning) and information (verbal learning) subtests of Wechsler Adult Intelligence Scale-third edition. Logistic regression models were performed for neurocognitive analysis. For neuroimaging, we used the CONN toolbox to assess FC between the specified regions, and ROI-to-ROI analysis. In the combined sample, high PEs (all dimensions) were related to lower processing speed performance. High negative PEs were related to poor visual learning performance and lower IQ, while high depressive PEs were associated with poor working memory performance. Those with high negative PEs presented FPN hypoconnectivity between the right and left lateral prefrontal cortex. There were no associations between PEs and the DMN and SN FC. Brazilian individuals with high PEs showed neurocognitive impairments like those living in wealthier countries. Hypoconnectivity in the FPN in a community sample with high PEs is coherent with the hypothesis of functional dysconnectivity in schizophrenia.

Peningkatan Potensi Kelompok Tunagrahita melalui Program Budidaya Tanaman di Desa Karangpatihan Ponorogo Jawa Timur

Partners in this community service is a Tunagrahita group in Karangpatihan Village, Balong Ponorogo. The main problem by partners is weakness in thinking, acting, and socializing with the community so that they are unable to work and unable to make ends meet. This was due to the food crisis in 1967. This condition took place over the years so resulted in the disabled people being unable to work like normal people, resulting in economic disability. To fulfill their daily needs, the Tunagrahita depend their economy on assistance from other parties (social assistance), both from the general public and assistance from the government in order to survive. Seeing these problems, the PKM team tried to provide solutions to help meet the economic needs of Tunagrahita by increasing its potential both in terms of knowledge and skills by farming such as cultivating vegetables using polybag planting media. The products produced are daily needs of the community, namely capsicum, frutescens, brassica rapa, V. unguiculata and S. lycopersicum. The method in this activity is participatory training through training, mentoring and evaluation of the program being implemented. The purpose of this service is to help the Tunagrahita community groups to improve in terms of economy, social and knowledge so that the Tunagrahita can get income to meet their needs without having to continually depend on their economy on the help of other parties. The results of this dedication are that currently 1) the Tunagrahita are starting to be able to cultivate crops., 2) the Tunagrahita are starting to be able to pack and branding of their crops and begin to be able to sell to the nearest market or shop, and 3) Tunagrahita have not been able to make simple bookkeeping of the results of plant cultivation products because of their low Intellectual Quotient (IQ) level because from the start they are not familiar with literacy.

Exploring the risk factors of child malnutrition in Sub-Sahara Africa: A scoping review.

Background: Malnutrition prevents children from reaching their full physical and mental potential. Health and physical consequences of prolonged states of malnourishment among children are: delay in their physical growth and motor development; lower intellectual quotient (IQ), greater behavioural problems and deficient social skills; susceptibility to contracting diseases. According to the 2015 Millennium development goal (MDG) report, sub-Saharan Africa (SSA) accounts for one third of all undernourished children globally, highlighting that malnutrition still remains a major health concern for children under 5 years in the sub-region, thus buttressing the need for urgent intervention. Aim: The aim of this study is to explore the risk factors of child malnutrition in sub-Saharan Africa through a scoping review. Methods: The scoping review was conducted using the following specific subject databases: EBSCOhost, google scholar, Pub med, demographic research and research gate. Attention was paid to keywords during navigation to ensure consistency of searches in each database. Two limiters were applied in all five databases. These included the use of the English language and articles published on child malnutrition in sub Saharan Africa. Results: The researchers identified eight themes for inclusion in the findings. The themes fell into four major categories being maternal related, family related, child related as well as context related factors. These themes reflect factors associated with child malnutrition. Conclusion: This scoping review revealed that there are quite a number of risk factors that lead to child malnutrition. Therefore, there is an urgency for strategic interventions aimed at improving child nutrition through female education if the 2030 end malnutrition SDG 2.2 are to be achieved.

Long-term neurodevelopmental outcomes of children with congenital heart defects: A prospective, population-based cohort study (EPICARD)

No population-based prospective cohort study has assessed the neurodevelopmental outcomes of school-aged children with CHD. To assess whether some groups of CHDs, more specifically cyanotic CHD (CCHD) with or without heart failure and non CCHD with heart failure, are at greater risk of adverse neurodevelopmental outcomes at 8 years of age. We used data from the prospective population-based cohort study EPICARD, which included all children with a CHD diagnosed in the prenatal period and up to 1 year of age, between 2005 and 2008 in the greater Paris areas. We looked at the overall intellectual quotient (IQ), and the specific neurocognitive domains. We classified the CHDs based on pathophysiological and clinical management characteristics and compared the outcomes across six groups of CHDs as compared with the control group (minor ventricular septal defects). In order to do so, we used multivariable linear regression models with the Heckman method to account for selection bias due to differential loss to follow-up. From the 1196 eligible patients for the 8-year follow up, 473 (39.5%) completed the neurodevelopmental evaluations. Compared to the control group, children with CCHD with or without heart failure had lower IQ scores, −8.0 ( P < 0.01) and −7.3 ( P = 0.02), respectively. Those with CCHD and non CCHD with heart failure also had lower scores at the language subtest, −1.9 ( P < 0.01) and − 1.4 ( P < 0.01), respectively. CCHD and non CCHD with heart failure and CHD with increased pulmonary blood flow had lower learning and memory scores, −1.36 ( P < 0.01), −1,2 ( P = 0.05) and − 0.9 ( P = 0.04), respectively. CCHD with heart failure had lower scores in the executive functions (inhibition) domain, −1.2 ( P = 0.05) Children with CHD associated with cyanosis and/or heart failure had significantly lower neurodevelopment scores at 8 years of age, both for overall IQ and specific neurocognitive domains.

Organophosphate pesticide exposure during pregnancy and childhood and onset of juvenile delinquency by age 16 years: The CHAMACOS cohort

BackgroundThough prenatal organophosphate pesticide (OP) exposure has been associated with lower intellectual quotient and behavioral disorders in childhood, factors related to later delinquency, no research has directly evaluated the impact of OPs on delinquency. ObjectiveTo evaluate the association between prenatal and childhood OP exposure and juvenile delinquency in Mexican-American youth in the Center for Health Assessment of Mothers and Children of Salinas (CHAMACOS). MethodsWe measured dialkyl phosphate (DAPs) urinary metabolites of OPs in two prenatal maternal samples and in five child samples collected between six months and five years of age. Youth completed delinquency questionnaires at 16 years. We examined associations of prenatal and childhood DAPs with several delinquency outcomes (n = 313) using survival and generalized linear models. ResultsAlmost 60% of youth reported delinquent acts (mostly minor), and 8% reported a police arrest. We observed largely null results of prenatal or childhood DAP concentrations and delinquency outcomes, with some isolated associations. A ten-fold increase in maternal dimethylphosphate (DM) concentrations measured after 20 weeks gestation was associated with an earlier age of first delinquent act (Hazard Ratio = 1.38, 95% CI: 1.01, 1.88) and an increased Odds Ratio (OR) of having committed 1–3 or ≥4 delinquent acts, compared to the no delinquency reference group (OR = 1.77, 95% CI: 1.01–3.08 and 2.17, 95% CI: 1.13–4.17, respectively). Higher childhood diethylphosphate (DE) concentrations were associated with a later age of first delinquent act (HR: 0.67; 95% CI: 0.46–0.97). DiscussionWe did not find strong evidence of association between prenatal or childhood OP exposure and juvenile delinquency in the present cohort. There is an increasing literature that relates OP exposure to neurobehavioral impairments in childhood, and there is a need to understand long-term potential neurodevelopmental effects of early-life OP exposure.

Adaptive behavior and its related factors in children with focal epilepsy

ObjectiveWe aimed to clarify the strengths and weaknesses in adaptive behavior in children with focal epilepsy and show children-associated factors related to adaptive behavior. Materials and methodsSixty-three children with focal epilepsy aged 5–18 years with intellectual quotient (IQ) ranging from 67 to 135 were enrolled in this study. Adaptive behavior was evaluated using the Vineland Adaptive Behavior Scale, 2nd edition (VABS-II). The children performed continuous performance test and tests of reading, writing, and IQ; parents answered questionnaires regarding attention-deficit hyperactivity disorder and autism spectrum disorder (ASD). Participants were categorized into four groups based on IQ and adaptive behavior scores for statistical comparisons. Results and discussionChildren with low adaptive behavior were more likely to show a reduction in daily living skills, and those with both low adaptive behavior and IQ were more likely to show a reduction in daily living skills and communication. Lower adaptive behavior was related to more severe autistic symptoms, lower academic achievement in children with IQ > 85, and lower executive function in children with IQ ≤ 85. There was a qualitative difference of cognitive dysfunction in adaptive behavior between both groups. ConclusionsThere were differences in VABS-II domain and subdomain characteristics between children with focal epilepsy and those with ASD; however, it was more difficult for children with more severe ASD and coexisting focal epilepsy to show age-equivalent adaptive behavior.

GSTP1 polymorphisms sex-specific association with verbal intelligence in survivors of pediatric medulloblastoma tumors

ABSTRACT Glutathione S-transferase (GST) single nucleotide polymorphisms (SNPs) have been associated with a lower intellectual quotient (IQ) in medulloblastoma survivors. We investigated the association of GSTP1 polymorphisms with intellectual, neurocognitive skills (e.g., attention span, working memory, and processing speed), and adaptive outcomes for long-term pediatric medulloblastoma survivors. We hypothesized that genetic risk and sex-specific risk would contribute to significantly lower performances across all measures. Eighteen long-term pediatric medulloblastoma survivors completed the Wechsler Abbreviated Scale Intelligence, California Verbal Learning Test-II, Auditory Consonant Trigrams, and Oral Symbol Digit Modality Test. Informants were interviewed with the Scales of Independent Behavior-Revised (SIB-R). After controlling for the false discovery rate, females with a polymorphism performed significantly worse than females without a polymorphism on verbal IQ (p = .005) and SIB-R (p = .012). There was a significant interaction between sex and polymorphism status for verbal IQ (b = −1.8, SE = 0.827, CI: −3.58, −.036). The main effect of this interaction was significant for females (p = .004) and not for males (p = .557). We found large effect sizes between males with the polymorphism and females with the polymorphism across measures of attention span (g = .877), working memory (g = 1.12), and processing speed (g = 1.53). Female medulloblastoma survivors with a GSTP1 polymorphism may have increased vulnerability to deficits in core cognitive skills, IQ, and everyday functional outcomes. Sex-specific genetic risk contributes to the variability in long-term verbal intelligence for medulloblastoma survivors.

Childhood cognitive skill trajectories and suicide by mid-adulthood: an investigation of the 1958 British Birth Cohort.

Poor cognitive abilities and low intellectual quotient (IQ) are associated with an increased risk of suicide attempts and suicide mortality. However, knowledge of how this association develops across the life-course is limited. Our study aims to establish whether individuals who died by suicide by mid-adulthood are distinguishable by their child-to-adolescence cognitive trajectories. Participants were from the 1958 British Birth Cohort and were assessed for academic performance at ages 7, 11, and 16 and intelligence at 11 years. Suicides occurring by September 2012 were identified from linked national death certificates. We compared mean mathematics and reading abilities and rate of change across 7-16 years for individuals who died by suicide v. those still alive, with and without adjustment for potential early-life confounding factors. Analyses were based on 14 505 participants. Fifty-five participants (48 males) had died by suicide by age 54 years. While males who died by suicide did not differ from participants still alive in reading scores at age 7 [effect size (g) = -0.04, p = 0.759], their reading scores had a less steep improvement up to age 16 compared to other participants. Adjustments for early-life confounding factors explained these differences. A similar pattern was observed for mathematics scores. There was no difference between individuals who died by suicide v. participants still alive on intelligence at 11 years. While no differences in tests of academic performance and IQ were observed, individuals who died by suicide had a less steep improvement in reading abilities over time compared to same-age peers.

Impaired Executive Functioning of Sexual Assault Survivors with Acute Stress Disorder.

This study aimed to examine the executive functioning of survivors exposed to recent sexual assaults. Twenty-seven female rape survivors who met the criterion for acute stress disorder (ASD) were enrolled and completed the assessment within 4 weeks after the traumatic experience. Additionally, 25 age-matched female health controls (HC) never exposed to such a traumatic event were enrolled. The assessments evaluated psychiatric symptoms including post-traumatic stress symptoms, depression, anxiety, and trait and state anger; general intelligence indexed by intellectual quotient (IQ); and executive functioning including set-shift/attention, planning, spatial working memory, and inhibition using the Cambridge Neuropsychological Test Automated Battery. The ASD group showed higher levels of depression, anxiety, and state anger, and lower IQ than the HC group. The ASD group also showed global impairment of executive functioning for set-shifting, attention, planning, and response inhibition compared to the HC group. Rather than being associated with low IQ and education levels, these results could be from trauma-related effects in survivors with ASD. Additionally, the state anger level was related to survivors’ deficient executive functioning. The findings indicate the importance of providing assessment and intervention efforts to sexual assault survivors soon after the trauma occurs.

Morphometric MRI features and surgical outcome in patients with epilepsy related to hippocampal sclerosis and low intellectual quotient

ObjectiveThe objectives of this study were to verify in a series of patients with mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS) if those with low intellectual quotient (IQ) levels have more extended areas of atrophy compared with those with higher IQ levels and to analyze whether IQ could be a variable implicated on a surgical outcome. Material and methodsPatients (n=106) with refractory MTLE-HS submitted to corticoamygdalohippocampectomy (CAH) (57 left mesial temporal lobe epilepsy (MTLE); 45 males) were enrolled. To determine if the IQ was a predictor of seizure outcome, totally seizure-free (SF) versus nonseizure-free (NSF) patients were evaluated. FreeSurfer was used for cortical thickness and volume estimation, comparing groups with lower (<80) and higher IQ (90–109) levels. ResultsIn the whole series, 42.45% of patients were SF (Engel Class 1a; n=45), and 57.54% were NSF (n=61). Total cortical volume was significantly reduced in the group with lower IQ (p=0.01). Significant reductions in the left hemisphere included the following: rostral middle frontal (p=0.001), insula (p=0.002), superior temporal gyrus (p=0.003), thalamus (p=0.004), and precentral gyrus (p=0.02); and those in the right hemisphere included the following: rostral middle frontal (p=0.003), pars orbitalis (p=0.01), and insula (p=0.02). Cortical thickness analysis also showed reductions in the right superior parietal gyrus in patients with lower IQ. No significant relationship between IQ and seizure outcome was found. ConclusionsThis is the first study of a series of patients with pure MTLE-HS, including those with low IQ and their morphometric magnetic resonance imaging (MRI) features using FreeSurfer. Although patients with lower intellectual scores presented more areas of brain atrophy, IQ was not a predictor of surgical outcome. Therefore, when evaluating seizure follow-up, low IQ in patients with MTLE-HS might not contraindicate resective surgery.

Early vulnerabilities for psychiatric disorders in elementary schoolchildren from four Brazilian regions

The purpose of the study is to identify early vulnerabilities for psychiatric disorders among Brazilian elementary school children, controlling for familial and community adversities. This is a cross-sectional study examining the association between child psychiatric disorders and potential early vulnerabilities (disability, low intellectual quotient, and negative dimensions of the temperament trait self-directedness (low resourcefulness, low purposefulness, low enlightened second nature), controlling for the potential confounders: familial and community adversities. Four probabilistic samples of second-to-sixth grade students from public schools in four towns from different Brazilian regions (N=1620). The following instruments were applied: the K-SADS-PL (to assess child/adolescent psychiatric disorders); the Ten-Question Screen (to measure child disability); three structured questions used as proxy of self-directedness; and the reduced version of the WISC-III to measure IQ. To evaluate familial/community adversities: Self-Report Questionnaire-SRQ-20 (to assess maternal/primary caretaker anxiety/depression); questions derived from structured questionnaires (to measure child abuse, marital physical violence, neighborhood violence); Brazilian Association of Research Companies questionnaire (to evaluate poverty/socioeconomic status). Trained psychologists interviewed mothers/primary caretakers and evaluated children/adolescents individually. A final logistic regression model showed that children/adolescents with low resourcefulness, low purposefulness, low enlightened second nature, lower IQ and disability were more likely to present any child psychiatric disorders. Early vulnerabilities such as low IQ, presence of disability, and dimensions of temperament were associated with psychiatric disorders among Brazilian elementary school children, after controlling for familial and ecological confounders. These early vulnerabilities should be considered in mental health prevention/intervention programs in low-middle-income countries like Brazil.

Is cognitive impairment associated with antipsychotic dose and anticholinergic equivalent loads in first-episode psychosis?

Cognitive deficits are a core feature of early stages in schizophrenia. However, the extent to which antipsychotic (AP) have a deleterious effect on cognitive performance remains under debate. We aim to investigate whether anticholinergic loadings and dose of AP drugs in first episode of psychosis (FEP) in advanced phase of remission are associated with cognitive impairment and the differences between premorbid intellectual quotient (IQ) subgroups. Two hundred and sixty-six patients participated. The primary outcomes were cognitive dimensions, dopaminergic/anticholinergic load of AP [in chlorpromazine equivalents (Eq-CPZ) and the Anticholinergic Risk Scale (ARS), respectively]. Impairments in processing speed, verbal memory and global cognition were significantly associated with high Eq-CPZ and verbal impairment with high ARS score. Moreover, this effect was higher in the low IQ subgroup. Clinicians should be aware of the potential cognitive impairment associated with AP in advanced remission FEP, particularly in lower premorbid IQ patients.

PROTOCOL: Effects of preventive nutrition interventions among adolescents on health and nutritional status in low- and middle-income countries: a systematic review.

PROTOCOL: Effects of preventive nutrition interventions among adolescents on health and nutritional status in low- and middle-income countries: a systematic review.

Intellectual Functioning in Offspring of Parents with Bipolar Disorder: A Review of the Literature.

Impaired intellectual functioning is an important risk factor for the emergence of severe mental illness. Unlike many other forms of mental disorder however, the association between bipolar disorder and intellectual deficits is unclear. In this narrative review, we examine the current evidence on intellectual functioning in children and adolescents at risk for developing bipolar disorder. The results are based on 18 independent, peer-reviewed publications from 1980 to 2017 that met criteria for this study. The findings yielded no consistent evidence of lower or higher intellectual quotient (IQ) in offspring of parents diagnosed with bipolar disorder. Some tentative evidence was found for lower performance IQ in offspring of bipolar parents as compared to controls. It is recommended that future research examine variability in intellectual functioning and potential moderators. These findings demonstrate the need to examine how intellectual functioning unfolds across development given the potential role of IQ as a marker of vulnerability or resilience in youth at high risk for affective disorders.

The impact of family factors on IQ in pediatric medically refractory epilepsy.

To evaluate whether family factors were associated with intellectual functioning among children with medically refractory epilepsy, and whether family factors moderate the relationship between patient/epilepsy-related variables and intellectual functioning. Children aged 4 to 18 years with medically refractory epilepsy who were evaluated for surgical candidacy were recruited. The authors assessed the association of intellectual quotient (IQ) with patient, epilepsy, and family factors. Family factors included parental education, household income, and validated parent-report measures of family functioning, family mastery and social support, and family demands. Univariable analyses showed that higher IQ scores were associated with an older age of epilepsy onset (β = .260, p = .009), fewer antiepileptic drugs (β = .248, p = .013), a shorter duration (β = .384, p < .001) and percentage of life with epilepsy (β = .419, p < .001), unilobar epileptogenic foci relative to multilobar foci (β = .274, p = .006), and lower family demands (β = .211, p = .035). In multivariable analysis, unilobar epileptogenic foci (p = .010) and a shorter percentage of life with epilepsy (p = .001) remained significant predictors of IQ. Exploratory moderation analyses found the relationship between the extent of epileptogenic foci and IQ to be moderated by family demands (p = .004); specifically, patients with unilobar epileptogenic onset had similar IQ scores irrespective of family demands, whereas patients with multilobar foci had lower IQ scores with increasing family demands. Family factors did not have a large impact on IQ among children with medically refractory epilepsy, although the moderating effect of family demands deserves further study. Epilepsy-related factors in this patient group may weaken the link between child IQ and family factors. (PsycINFO Database Record

Computational Analysis and Polymorphism study of Tumor Suppressor Candidate Gene-3 for Non Syndromic Autosomal Recessive Mental Retardation

Computational Analysis and Polymorphism study of Tumor Suppressor Candidate Gene-3 for Non Syndromic Autosomal Recessive Mental Retardation Mental Retardation (MR) is regarded as a neuronal malfunction characterized by a low Intellectual Quotient (IQ). To date, few genes (GRIK2, TUSC3, TRAPPC9, TECR, ST3GAL3, MED23, MAN1B1, NSUN1 PRSS12, CRBN, CC2D1A) for autosomal-recessive non syndromic MR (NS-ARMR) have been identified and established in various families with MR. The recently reported candidate gene “Tumor Suppressor Candidate Gene-3 (TUSC3)” was selected for computational analysis to explore its potential role in pathology as it is the only gene for MR reported in more than five different familial cases worldwide. TUSC3 gene located at chromosome 8p22 contains 11 exons and encodes a protein involved in the vertebrate plasma membrane magnesium ion transport system. Three dimensional structures of the candidate gene TUSC3 and its mutated structure with Q55X were generated. Template parameters were based on Z-score, E value, resolution and quality. Present study demonstrates the reliability of 3D model which satisfies the overall quality of the model constructed, employing both physiochemical and statistical model evaluation. Previously a homozygous 163C-T transition in exon 2 of the TUSC3 gene, resulting in a gln55-to-ter (Q55X) substitution has been reported. And here we predicted by PHD-SNP that X could be either proline (P) or Aspartic acid (D) causing deleterious effect. As mutation at 55 position was responsible for non-syndromic autosomal recessive mental retardation, so it was assumed that mutation was either by proline or aspartic acid. Further, MUPRO, PROVEAN, I-Mutant, Predict SNP, Meta SNP, Panther, SIFT, SNPs 3D confirmed that deleterious mutation was Q55P transition... .

Assessment of Cognitive Scales to Examine Memory, Executive Function and Language in Individuals with Down Syndrome: Implications of a 6-month Observational Study.

Down syndrome (DS) is the most commonly identifiable genetic form of intellectual disability. Individuals with DS have considerable deficits in intellectual functioning (i.e., low intellectual quotient, delayed learning and/or impaired language development) and adaptive behavior. Previous pharmacological studies in this population have been limited by a lack of appropriate endpoints that accurately measured change in cognitive and functional abilities. Therefore, the current longitudinal observational study assessed the suitability and reliability of existing cognitive scales to determine which tools would be the most effective in future interventional clinical studies. Subtests of the Repeatable Battery for the Assessment of Neuropsychological Status (RBANS), Cambridge Neuropsychological Test Automated Battery (CANTAB), and Clinical Evaluation of Language Fundamentals-Preschool-2 (CELF-P-2), and the Observer Memory Questionnaire-Parent Form (OMQ-PF), Behavior Rating Inventory of Executive Function®–Preschool Version (BRIEF-P) and Leiter International Performance Scale-Revised were assessed. The results reported here have contributed to the optimization of trial design and endpoint selection for the Phase 2 study of a new selective negative allosteric modulator of the GABAA receptor α5-subtype (Basmisanil), and can be applied to other studies in the DS population.

Exposure To Lead And Arsenic Related To Cognitive Effects In Children From Northern Chile

Introduction: Neurodevelopmental effects have been reported associated to lead and arsenic exposure. Such effects have been unexplored in children living near to a remediated area contaminated with lead and arsenic in northern Chile. Objective: To determine whether high concentrations of lead in blood and arsenic in urine is associated to low intellectual quotient (IQ) performance in children. Methods: We conducted a cross-sectional study with 180 children (6 to 15 years old) who resided near a contaminated zone in Arica. Children's IQ were assessed using the Wechsler Intelligence Scale for Children, Third Edition-Chilean version (WISC-IIIv.ch). The Local Sanitary Authority provided data on children's blood lead levels (BLL) and urine arsenic concentration. Maternal IQ (WAIS-IVv.ch) and personal and family antecedents were also collected. Independent models were constructed using BLL and urine arsenic concentration as exposure variables and IQ as the main outcome adjusted by income, maternal IQ, age, sex, and birth order among siblings. Results: The median BLL and urine arsenic concentration was 2.0 g/dl (IQR 1,0 – 3,0) and 19 μg/L (IQR 12-29), respectively. 56.7% of children had IQ scores below 90 points. A non-significant inverse relationship between BLL and IQ was found (1μg/dl as reference; 2μg/dl, β -1,04 (CI95% -5,88 to 3,80); 3μg/dl, β -4,85 (CI95% -12,09 to 2,38); =4μg/dl, β 2,26 (CI95% -4,32 to 8,85). Urine arsenic concentration showed an inverse and significant relationship with IQ in children between 11 to 20 μg/L (1-10μg/L as reference; 11-20μg/L, β -7.33 (CI95% -13,20 to -1,47); 21-30μg/L, β 0.74 (CI95% -5,72 to 7,21); =30μg/L, β 2.14 (CI95% -4,37 to 8,66). Conclusions: We did not find a dose-response relationship. Possibly, due to the current biomarkers don't reflect the greater exposure occurred prior 1998, when the remedial actions began. A better estimation of chronic exposure and the comparison of IQ according to vulnerable windows are required.

Computational Analysis of TRAPPC9: Candidate Gene for Autosomal Recessive Non-Syndromic Mental Retardation

Mental retardation (MR)/ intellectual disability (ID) is a neuro-developmental disorder characterized by a low intellectual quotient (IQ) and deficits in adaptive behavior related to everyday life tasks such as delayed language acquisition, social skills or self-help skills with onset before age 18. To date, a few genes (PRSS12, CRBN, CC2D1A, GRIK2, TUSC3, TRAPPC9, TECR, ST3GAL3, MED23, MAN1B1, NSUN1) for autosomal-recessive forms of non syndromic MR (NS-ARMR) have been identified and established in various families with ID. The recently reported candidate gene TRAPPC9 was selected for computational analysis to explore its potentially important role in pathology as it is the only gene for ID reported in more than five different familial cases worldwide. YASARA (12.4.1) was utilized to generate three dimensional structures of the candidate gene TRAPPC9. Hybrid structure prediction was employed. Crystal Structure of a Conserved Metalloprotein From Bacillus Cereus (3D19-C) was selected as best suitable template using position-specific iteration-BLAST. Template (3D19-C) parameters were based on E-value, Z-score and resolution and quality score of 0.32, -1.152, 2.30°A and 0.684 respectively. Model reliability showed 93.1% residues placed in the most favored region with 96.684 quality factor, and overall 0.20 G-factor (dihedrals 0.06 and covalent 0.39 respectively). Protein-Protein docking analysis demonstrated that TRAPPC9 showed strong interactions of the amino acid residues S(253), S(251), Y(256), G(243), D(131) with R(105), Q(425), W(226), N(255), S(233), its functional partner 1KBKB. Protein-protein interacting residues could facilitate the exploration of structural and functional outcomes of wild type and mutated TRAPCC9 protein. Actively involved residues can be used to elucidate the binding properties of the protein, and to develop drug therapy for NS-ARMR patients.

Clinical, Psychosocial, and Central Correlates of Quality of Life in Myotonic Dystrophy Type 1 Patients

Aims: To identify sociodemographic, clinical, and central correlates of health-related quality of life (HRQoL) in DM1 patients. Methods: 200 DM1 patients had assessments of muscular impairment, CTG repeats, and intelligence. Validated instruments were used to assess sociodemographic and clinical factors as well as social support, social participation, daytime sleepiness, fatigue, personality, mood, and quality of life. Regression analysis was used to identify correlates of SF-36 physical and mental component summary scores. Results: Patients scored lower on all SF-36 physical health subscales compared with normative data but did not differ with respect to mental health function. Regression analysis revealed that psychological distress, fatigue, severe muscular impairment, emotional stability, not having worked within the last 12 months, and lower intellectual quotient were associated with lower scores in physical health function. Moreover, neuroticism, daytime sleepiness, dissatisfaction with social participation, and lower conscientiousness were associated with lower scores in mental health function. Conclusion: DM1 has an impact on SF-36 physical summary scores but not on mental summary scores. Factors such as fatigue, daytime sleepiness, psychological distress, unemployment, and social participation dissatisfaction that significantly affect HRQoL in DM1 are amenable to treatment and psychosocial interventions, namely by providing care that integrate health, social, and community services.