- Bi-allelic Mutations in ALDH5A1 is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability. [Journal Article]Gene. 2020 Jul 01 [Online ahead of print]GENE
- Homozygous mutations of ALDH5A1 have been reportedly associated with Succinic semialdehyde dehydrogenase deficiency (SSADHD) that affects gamma-aminobutyric acid (GABA) catabolism and evinces a wide range of clinical phenotype from mild intellectual disability to severe neurodegenerative disorders. We report clinical and molecular data of a Lor family with 2 affected members presenting with sever…
Homozygous mutations of ALDH5A1 have been reportedly associated with Succinic semialdehyde dehydrogenase deficiency (SSADHD) that affects gamma-aminobutyric acid (GABA) catabolism and evinces a wide range of clinical phenotype from mild intellectual disability to severe neurodegenerative disorders. We report clinical and molecular data of a Lor family with 2 affected members presenting with severe intellectual disability, developmental delay, and generalized tonic-clonic seizures. A comprehensive genetic study that included whole-exome sequencing identified a homozygous missense substitution (NM_001080:c.G1321A:p.G441R) in ALDH5A1 (Aldehyde Dehydrogenase 5 Family Member A1) gene, consistent with clinical phenotype in the patients and co-segregating with the disease in the family. The non-synonymous mutation, p.G441R, affects a highly conserved amino acid residue, which is expected to cause a severe destabilization of the enzyme. Protein modeling demonstrated an impairment of the succinic semialdehyde (SSA) binding tunnel accessibility, and the anticipation of the protein folding stability and dynamics was a decrease in the free energy by 4.02 kcal/mol. Consistent with these in silico findings, excessive γ -hydroxybutyrate (GHB) could be detected in patients' urine as the byproduct of the GABA pathway. SSADHD, Succinic semialdehyde dehydrogenase deficiency; GABA, gamma-aminobutyric acid; ALDH5A1, Aldehyde Dehydrogenase 5 Family Member A1; GHB, γ -hydroxybutyrate; SSA, succinic semi aldehyde; WISC, Wechsler Intelligence Scale for Children; CNS, central nervous system ; EEG, electroencephalography; EEEF, empirical effective energy functions; ASD, autism spectrum disorder; ADHD, attention deficit hyperactivity disorder; IQ, intelligence quotient; EMG, electromyography; NCV, nerve conduction velocity; CP, cerebral palsy.
- Effects of repetitive Iodine thyroid blocking on the foetal brain and thyroid in rats: a systems biology approach. [Journal Article]Sci Rep. 2020 Jul 02; 10(1):10839.SR
- A single administration of an iodine thyroid blocking agent is usually sufficient to protect thyroid from radioactive iodine and prevent thyroid cancer. Repeated administration of stable iodine (rKI) may be necessary during prolonged or repeated exposure to radioactive iodine. We previously showed that rKI for eight days offers protection without toxic effects in adult rats. However, the effect o…
A single administration of an iodine thyroid blocking agent is usually sufficient to protect thyroid from radioactive iodine and prevent thyroid cancer. Repeated administration of stable iodine (rKI) may be necessary during prolonged or repeated exposure to radioactive iodine. We previously showed that rKI for eight days offers protection without toxic effects in adult rats. However, the effect of rKI administration in the developing foetus is unknown, especially on brain development, although a correlation between impaired maternal thyroid status and a decrease in intelligence quotient of the progeny has been observed. This study revealed distinct gene expression profiles between the progeny of rats receiving either rKI or saline during pregnancy. To understand the implication of these differentially expressed (DE) genes, a systems biology approach was used to construct networks for each organ using three different techniques: Bayesian statistics, sPLS-DA and manual construction of a Process Descriptive (PD) network. The PD network showed DE genes from both organs participating in the same cellular processes that affect mitophagy and neuronal outgrowth. This work may help to evaluate the doctrine for using rKI in case of repetitive or prolonged exposure to radioactive particles upon nuclear accidents.
- In Vivo Evaluation of White Matter Abnormalities in Children with Duchenne Muscular Dystrophy Using DTI. [Journal Article]AJNR Am J Neuroradiol. 2020 Jul 02 [Online ahead of print]AA
- CONCLUSIONS: Widespread WM differences are evident in patients with Duchenne muscular dystrophy relative to healthy controls. Distal mutations in particular are associated with extensive WM abnormalities and poor neuropsychological profiles.
- The association between neurocognition and sexual abuse within a children's psychiatric inpatient program. [Journal Article]Clin Neuropsychol. 2020 Jul 02 [Online ahead of print]CN
- Objective: The aim of this study was to understand the detrimental effects of sexual abuse on neuropsychological variables including child's intelligence, executive functioning (EF), and learning/memory within a pediatric inpatient population.Method: This study examined the effect of sexual abuse on children's intelligence, EF, and learning/memory by conducting a retrospective chart review for 14…
Objective: The aim of this study was to understand the detrimental effects of sexual abuse on neuropsychological variables including child's intelligence, executive functioning (EF), and learning/memory within a pediatric inpatient population.Method: This study examined the effect of sexual abuse on children's intelligence, EF, and learning/memory by conducting a retrospective chart review for 144 children (aged 7-12) who completed a neuropsychological assessment during a psychiatric inpatient hospitalization. Of the 144 children, participants were matched two to one by gender and age, with one group (n = 52) categorized by reported sexual abuse and the other group (n = 92) categorized by no reported sexual abuse. The neuropsychological measures included the Wechsler Abbreviated Scale of Intelligence (WASI-I/II) or Wechsler Intelligence Scale for Children-Fourth Edition (WISC-IV), Wide Range Assessment of Memory and Learning - Second Edition (WRAML-2): Story Memory Immediate/Delayed Recall and Delayed Recognition, Trail Making Test-B, Stroop Interference Test: Color-Word Condition, WRAML-2: Sentence Memory and Conners Continuous Performance Test-Second Edition.Results: Statistical analysis showed that participants with reported sexual abuse had significantly (p< .05) lower intelligence, EF, and learning/memory skills than those without reported sexual abuse. Only working memory and cognitive flexibility differences remained after controlling for clinical variables (e.g., PTSD, amount of total abuse types).Conclusions: These findings contributed to the limited research on the detrimental effects of sexual abuse in a pediatric inpatient population. They demonstrated a relationship between early sexual abuse and neuropsychological deficits, specifically executive function and IQ deficits.
- A randomised clinical pilot trial to test the effectiveness of parent training with video modelling to improve functioning and symptoms in children with autism spectrum disorders and intellectual disability. [Journal Article]J Intellect Disabil Res. 2020 Jun 30 [Online ahead of print]JI
- CONCLUSIONS: Parent training delivered by video modelling can be a useful technique for improving the care given to children with ASD and ID, particularly in countries that lack specialists.
- Clinical and Neuropsychological Factors Associated with Treatment Response and Adverse Events of Atomoxetine in Children with Attention-Deficit/Hyperactivity Disorder. [Journal Article]Soa Chongsonyon Chongsin Uihak. 2019 Mar 31; 30(2):74-82.SC
- CONCLUSIONS: The results of our study suggest that clinical and neuropsychological factors could be associated with treatment response or adverse events of atomoxetine in children with ADHD. Further long-term studies with larger samples are needed.
- Autism Spectrum Disorder Diagnosis in Diagnostic and Statistical Manual of Mental Disorders-5 Compared to Diagnostic and Statistical Manual of Mental Disorders-IV. [Journal Article]Soa Chongsonyon Chongsin Uihak. 2018 Oct 01; 29(4):178-184.SC
- CONCLUSIONS: The results of our study suggest that ASD prevalence estimates could be lower under DSM-5 than DSM-IV diagnostic criteria. Further prospective study on the impact of new DSM-5 ASD diagnoses in Koreans with ASD is needed.
- Clinical and electroencephalographic features of benign childhood epilepsy with centrotemporal spikes comorbidity with attention-deficit hyperactivity disorder in Southwest China. [Journal Article]Epilepsy Behav. 2020 Jun 27; 111:107240.EB
- CONCLUSIONS: Benign partial epilepsy with centrotemporal spikes with ADHD has the characteristics of early age of onset, long course of disease and low intelligence score. In addition, the epileptiform discharges of BECTS-ADHD were prone to be bilateral or diffuse, and polypharmacological treatment is also common in this group.
- The type and timing of patent ductus arteriosus treatment was associated with neurodevelopment when extremely preterm infants reached 6.5 years. [Journal Article]Acta Paediatr. 2020 Jun 30 [Online ahead of print]AP
- CONCLUSIONS: Drug treatment followed by deferred surgery appeared to be a safer option for extremely preterm infants severely affected by PDA.
- Newborn screening TSH values <15 mIU/L are not associated with long-term hypothyroidism or cognitive impairment. [Journal Article]J Clin Endocrinol Metab. 2020 Jun 29 [Online ahead of print]JC
- CONCLUSIONS: Our data do not demonstrate long-term negative effects of neonatal mild TSH elevation. TSH elevation below screen threshold appears largely transient and mid-childhood neurocognitive performance of these children was similar to their siblings. We propose that associations between neonatal mild TSH elevation and IQ are due to familial confounders. We caution against the practice of reducing screening CH cutoffs to levels where the diagnosis may not offer long-term benefit for those detected.
- Domain- and trimester-specific effect of prenatal phthalate exposure on preschooler cognitive development in the Ma'anshan Birth Cohort (MABC) study. [Journal Article]Environ Int. 2020 Jun 25; 142:105882.EI
- CONCLUSIONS: Our results suggest that prenatal phthalate exposure impairs the cognitive development of preschoolers. The first trimester of pregnancy might be the most vulnerable period in terms of neurotoxicitydue to phthalate exposure. These findings warrant further confirmation.
- Impact of low-level mercury exposure on intelligence quotient in children via rice consumption. [Journal Article]Ecotoxicol Environ Saf. 2020 Jun 25; 202:110870.EE
- Wanshan is a city in southwest China that has several inactive mercury (Hg) mines. The local population are exposed to methylmercury (MeHg) due to the consumption of Hg contaminated rice. The relationship between Hg exposure and the cognitive functions of local children is unknown. This study investigated the relationship between hair Hg concentrations and the intelligence quotient (IQ) of 314 ch…
Wanshan is a city in southwest China that has several inactive mercury (Hg) mines. The local population are exposed to methylmercury (MeHg) due to the consumption of Hg contaminated rice. The relationship between Hg exposure and the cognitive functions of local children is unknown. This study investigated the relationship between hair Hg concentrations and the intelligence quotient (IQ) of 314 children aged 8-10 years, recruited from three local primary schools in Wanshan area in 2018 and 2019. IQ was evaluated using Wechsler Intelligence Scale for Children - Fourth Edition (WISC-IV). The average THg concentration in children's hair samples was 1.53 μg g-1 (range: 0.21-12.6 μg g-1), and 65.6% exceeded the United States Environment Protection Agency (USEPA) recommended value of 1 μg g-1. Results of logistic regression analysis showed that children with hair Hg ≥ 1 μg g-1 were 1.58 times more likely to have an IQ score <80, which is the clinical cut-off for borderline intellectual disability (R2 = 0.20, p = 0.03). Increasing of 1 μg g-1 hair Hg resulted in 1 point of IQ loss in Wanshan children, which was.much higher than that via fish consumption. The economical cost due to Hg exposure was estimated to be $69.8 million (9.43% of total GDP) in the Wanshan area in 2018.
- Plasma metabolome and cognitive skills in Down syndrome. [Journal Article]Sci Rep. 2020 Jun 26; 10(1):10491.SR
- Trisomy 21 (Down syndrome, DS) is the main human genetic cause of intellectual disability (ID). Lejeune hypothesized that DS could be considered a metabolic disease, and we found that subjects with DS have a specific plasma and urinary metabolomic profile. In this work we confirmed the alteration of mitochondrial metabolism in DS and also investigated if metabolite levels are related to cognitive…
Trisomy 21 (Down syndrome, DS) is the main human genetic cause of intellectual disability (ID). Lejeune hypothesized that DS could be considered a metabolic disease, and we found that subjects with DS have a specific plasma and urinary metabolomic profile. In this work we confirmed the alteration of mitochondrial metabolism in DS and also investigated if metabolite levels are related to cognitive aspects of DS. We analyzed the metabolomic profiles of plasma samples from 129 subjects with DS and 46 healthy control (CTRL) subjects by 1H Nuclear Magnetic Resonance (NMR). Multivariate analysis of the NMR metabolomic profiles showed a clear discrimination (up to 94% accuracy) between the two groups. The univariate analysis revealed a significant alteration in 7 metabolites out of 28 assigned unambiguously. Correlations among the metabolite levels in DS and CTRL groups were separately investigated and statistically significant relationships appeared. On the contrary, statistically significant correlations among the NMR-detectable part of DS plasma metabolome and the different intelligence quotient ranges obtained by Griffiths-III or WPPSI-III tests were not found. Even if metabolic imbalance provides a clear discrimination between DS and CTRL groups, it appears that the investigated metabolomic profiles cannot be associated with the degree of ID.
- A neuropsychological approach in a paediatric acquired brain injury unit under the public health system. [Journal Article]Neurologia. 2020 Jun 22 [Online ahead of print]N
- CONCLUSIONS: The care of patients with ABI should include neuropsychological rehabilitation programmes and provide emotional support to the family so that they may actively participate in the recovery of the child or adolescent.
- Correlation Between the Wechsler Adult Intelligence Scale- 3 rd Edition Metrics and Brain Structure in Healthy Individuals: A Whole-Brain Magnetic Resonance Imaging Study. [Journal Article]Front Hum Neurosci. 2020; 14:211.FH
- CONCLUSIONS: These results suggested the neurostructural bases of the WAIS-III IQs and group indices in the brain of healthy individuals.
- Screening for intellectual disability in Dutch psychiatrically disturbed detainees: Assessing the psychometric properties of the Screener for Intelligence and Learning Disability (SCIL). [Journal Article]J Appl Res Intellect Disabil. 2020 Jun 24 [Online ahead of print]JA
- CONCLUSIONS: The SCIL gives a quick and accurate indication of whether a person is at risk for intellectual disabilities. Although both the reliability and validity of the SCIL are lower in the study population than in regular prison populations, for application of the SCIL in mentally ill detainees all psychometric properties could be classified as acceptable. When assessing the latter populations, it is recommended to use a cut-off value of 20.5 instead of the original 19.5. Additionally, it is advised to revise item 4. Finally, it is important to mention that the estimated prevalence of intellectual disability is the forensic population seems to be larger than expected.
- Total mercury and methylmercury in rice: Exposure and health implications in Bangladesh. [Journal Article]Environ Pollut. 2020 Jun 16; 265(Pt A):114991.EP
- Rice methylmercury (MeHg) contamination has attracted global attention, especially in countries where rice is considered a staple food. The daily rice intake rate in Bangladesh ranks first in the world; however, no attention has been paid to rice MeHg contamination in Bangladesh. Total Hg (THg) and MeHg concentrations of commercial rice (n = 172) from Bangladesh were first analyzed to accurately …
Rice methylmercury (MeHg) contamination has attracted global attention, especially in countries where rice is considered a staple food. The daily rice intake rate in Bangladesh ranks first in the world; however, no attention has been paid to rice MeHg contamination in Bangladesh. Total Hg (THg) and MeHg concentrations of commercial rice (n = 172) from Bangladesh were first analyzed to accurately evaluate both rice MeHg and inorganic Hg (IHg) exposure in different age-gender groups of Bangladeshis. The corresponding adverse health impacts and associated economic loss were also assessed. The results showed that THg concentration in all samples ranged from 0.42 to 14.4 ng/g, with an average of 2.48 ± 1.41 ng/g, while the MeHg concentration ranged from 0.026 to 7.47 ng/g, with an average of 0.83 ± 0.60 ng/g. The highest average MeHg and IHg were both recorded in rice from Chittagong. The highest mean MeHg and IHg exposures were observed in 2-5 years-old group and were 16.2% of the reference dose (RfD) of 0.1 μg/kg/day for MeHg and 7.09% of the provisional tolerable weekly intake (PTWI) of 0.571 μg/kg/day for IHg. Surprisingly, MeHg exposure of the 2-5 year-old children could be up to 93.7% of the RfD at a high percentile (P99.9). The total intelligence quotient reduction caused by rice MeHg exposure could be 54700 points, and the associated economic loss is approximately 42.5 million USD. To avoid high rice MeHg exposure, it was suggested that diet structure be improved. More attention should be paid to residents with long-term rice MeHg exposure, especially children in the 2-5 year-old group.
- Evaluative Threat Increases Effort Expenditure in a Cycling Exercise: An Exploratory Study. [Journal Article]J Sport Exerc Psychol. 2020 Jun 21 [Online ahead of print]JS
- Research shows that negative or threatening emotional stimuli can foster movement velocity and force. However, less is known about how evaluative threat may influence movement parameters in endurance exercise. Based on social self-preservation theory, the authors predicted that evaluative threat would facilitate effort expenditure in physical exercise. In an exploratory study, 27 young men comple…
Research shows that negative or threatening emotional stimuli can foster movement velocity and force. However, less is known about how evaluative threat may influence movement parameters in endurance exercise. Based on social self-preservation theory, the authors predicted that evaluative threat would facilitate effort expenditure in physical exercise. In an exploratory study, 27 young men completed a bogus intelligence test and received either low-intelligence-quotient feedback (evaluative threat) or no feedback (control). Next, they were asked to pedal on a stationary bicycle for 30 min at a constant cadence. After 10 min (calibration period), the cadence display was hidden. Findings show that participants under evaluative threat increased cadence more than control participants during the subsequent 20-min critical period. These findings underline the potential importance of unrelated evaluative threat on physical performance.
- Temporal regularity of cerebral activity at rest correlates with slowness of reaction times in intellectual disability. [Journal Article]Clin Neurophysiol. 2020 Jun 08; 131(8):1859-1865.CN
- CONCLUSIONS: Behavioral slowness in ID subjects is closely related to lower brain signal complexity.Brain signal ApEn is shown to correspond with processing speed for the first time: in ID participants, the higher the regularity in brain signals at rest, the slower RTs will be in the active state. ID should be understood as a lack of lability in the cortical transition to the active state, weakening the efficiency of adaptive behavior.
- Hippocampal volume is more related to patient-reported memory than objective memory performance in early multiple sclerosis. [Journal Article]Mult Scler. 2020 Jun 22 [Online ahead of print]MS
- CONCLUSIONS: Patient-report is inherently a longitudinal assessment of within-person memory change in everyday life, which may be more sensitive to subtle disease-related changes than cross-sectional objective tests. Findings align with the aging literature.
- Intelligence quotient level and treatment of obsessive-compulsive disorders: Meta-analyses. [Journal Article]Med Hypotheses. 2020 Jun 13; 144:109995.MH
- CONCLUSIONS: The IQ of the OCD subjects was significantly lower than in normal subjects. The SSRIs and the CBT had a significant effect on treating OCD. Different SSRIs are similar in their effect on OCD. More studies are required to separate between CBT and SSRIs' insignificant differences.
- Long-term developmental effect of withholding parenteral nutrition in paediatric intensive care units: a 4-year follow-up of the PEPaNIC randomised controlled trial. [Journal Article]Lancet Child Adolesc Health. 2020 Jul; 4(7):503-514.LC
- CONCLUSIONS: Omitting early parenteral nutrition use for critically ill children did not adversely affect long-term outcomes 4 years after randomisation and protected against emotional and behavioural problems, further supporting the deimplementation of early parenteral nutrition.
- Behavioral phenotypes of childhood idiopathic epilepsies. [Journal Article]Epilepsia. 2020 Jun 18 [Online ahead of print]E
- CONCLUSIONS: Youth with new and recent onset epilepsy fall into three distinct behavioral phenotypes associated with a variety of co-occurring features and comorbidities. This approach identifies important phenotypes of behavior problem presentations and their accompanying factors that serve to advance clinical and theoretical understanding of the behavioral complications of children with epilepsy and the complex conditions with which they co-occur.
- The impact of vitamin D food fortification and health outcomes in children: a systematic review and meta-regression. [Journal Article]Syst Rev. 2020 Jun 16; 9(1):144.SR
- CONCLUSIONS: VitD food fortification is an effective way to improve 25(OH)D concentration, prevent vitD deficiency, and improve IQ levels.
- Clinical characterization of children and adolescents with NF1 microdeletions. [Journal Article]Childs Nerv Syst. 2020 Jun 12 [Online ahead of print]CN
- CONCLUSIONS: Our findings indicate that already at a very young age, NF1 microdeletions patients frequently exhibit a severe disease manifestation which requires specialized long-term clinical care.
- Subcortical nuclei volumes are associated with cognition in children post-convulsive status epilepticus: Results at nine years follow-up. [Journal Article]Epilepsy Behav. 2020 Jun 08; 110:107119.EB
- CONCLUSIONS: Nine years post-CSE, SCV is significantly lower in children who have LCA compared with those that do not. However, in this cohort, we are unable to determine whether the relationship is independent of ICV or etiology. Future, larger scale studies may help tease this out.
- Association of Poor Postnatal Growth with Neurodevelopmental Impairment in Infancy and Childhood: Comparing the Fetus and the Healthy Preterm Infant References. [Journal Article]J Pediatr. 2020 Jun 07 [Online ahead of print]JPed
- CONCLUSIONS: Poor neonatal growth categorized using fetal references showed stronger associations with long term neurodevelopment than poor growth categorized using the INTERGROWTH-21st standards.
- Diminished verbal ability among children conceived through ART with exposure to high serum estradiol in utero. [Journal Article]J Assist Reprod Genet. 2020 Jun 09 [Online ahead of print]JA
- CONCLUSIONS: Our data demonstrate that a high maternal serum estradiol level may negatively associate the verbal ability of children conceived via ART.
- Electrical stimulation sensorimotor mapping with stereo-EEG. [Journal Article]Clin Neurophysiol. 2020 May 18; 131(8):1691-1701.CN
- CONCLUSIONS: We provide evidence for diagnostic validity and safety of stereo-EEG sensorimotor ESM.The somatotopy of sensorimotor responses elicited with electrical stimulation provide new insights into mechanisms of motor control and sensory perception.
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- Relationships between abnormal neural activities and cognitive impairments in patients with drug-naive first-episode schizophrenia. [Journal Article]BMC Psychiatry. 2020 Jun 05; 20(1):283.BP
- CONCLUSIONS: These findings suggested that abnormal spontaneous activities in right MFG reflect illness severity and cognitive deficits, which also serve as a basis for establishing objective diagnostic markers and might be a clinical intervention target for treating patients with schizophrenia.