Succinic Semialdehyde Dehydrogenase Deficiency: Review of the Natural History Study

Objective: The SSADHD Natural History Study was initiated in 2019 to define the natural course and identify biomarkers correlating with severity. Methods: The study is conducted by 4 institutions: BCH (US clinical), WSU (bioanalytical core), USF (biostatistical core), and Heidelberg (iNTD), with support from the family advocacy group (SSADH Association). Recruitment goals were to study 20 patients on-site at BCH, 10 with iNTD, and 25 as a standard-of care cohort. Results: At this half-way point of this longitudinal study, 28 subjects have been recruited (57% female, mean 9 years, range 18 months–40 years). Epilepsy is present in half and increases in incidence and severity, as do psychiatric symptoms, in adolescence and adulthood. The average Full Scale IQ (FSIQ) was 53 (Verbal score of 56, Non Verbal score of 49), and half scored as having ASD. Although there was no correlation between gene variant and phenotypic severity, there were extreme cases of lowest functioning in one individual and highest in another that may have genotype-phenotype correlation. The most common EEG finding was mild background slowing with rare epileptiform activity, whereas high-density EEG and magnetoencephalography showed reduction in the gamma frequency band consistent with GABAergic dysfunction. MR spectroscopy showed elevations in the GABA/NAA ratio in all regions studied with no crossover between subjects and controls. Conclusions: The SSADH Natural History Study is providing a unique opportunity to study the complex pathophysiology longitudinally and derive electrophysiologic, neuroimaging, and laboratory data for correlation and to serve as biomarkers for clinical trials and prognostic assessments in this ultra-rare inherited disorder of GABA metabolism.

A practical method for dealing with missing Glasgow Coma Scale verbal component scores

OBJECTIVEThe Glasgow Coma Scale (GCS) is used for the assessment of impaired consciousness; however, it is not always possible to test each component, most commonly the verbal component. This affects the derivation of the GCS sum score, which has a role in systems for predicting patient outcome. Imputation of missing scores does not add extra information, but it does allow use of tools for predicting outcome that require complete data. The authors devised a simple and practical tool to employ when verbal component data are missing. They then assessed the tool’s utility by application to the GCS-Pupils plus age plus CT findings (GCS-PA CT) prognostic model.METHODSThe authors inspected data from the International Mission for Prognosis and Analysis of Clinical Trials in Traumatic Brain Injury (IMPACT) cohort to characterize the frequency of missing verbal scores. The authors identified a single verbal score to impute for each eye and motor combined sum (EM) score from distributions of verbal scores in a published database of 54,069 patients. The effectiveness of the imputed verbal score was assessed using a dataset containing information from the IMPACT and Corticosteroid Randomisation After Significant Head Injury (CRASH) databases. The authors compared the performance of the prognostic model using actual verbal scores with the performance using imputed verbal scores and assessed the information yield using Nagelkerke’s R2 statistic.RESULTSVerbal data were most commonly missing in patients with no eye opening and with a motor score of 4 or less. The “simple” imputation model that was developed performed as well as a more complex model involving distinct combinations of eye and motor scores. The imputation model consisted of the following: EM scores 2–6, add 1; EM score 7, add 2; EM score 8 or 9, add 4; and EM score 10, add 5 to provide the GCS sum score. Modeling without information about the verbal score reduced the R2 from 32.1% to 31.4% and from 34.9% to 34.0% for predictions of death and favorable outcome at 6 months, respectively, compared with using full verbal score information.CONCLUSIONSThis strategy is particularly valuable for imputation in clinical practice, enabling clinicians to make a rapid and reliable determination of the GCS sum score when the verbal component is not testable. This will support clinical communication and decisions based on estimates of injury severity as well as enable estimation of prognosis. The authors suggest that external validation of their imputation strategy and the performance of the GCS-PA charts should be undertaken in other clinical populations.

Relationship of the Kaufman Brief Intelligence Test–Second Edition and the Wechsler Abbreviated Scale of Intelligence in Children Referred for ADHD

This study examines the relationship between the Wechsler Abbreviated Scale of Intelligence (WASI) and the Kaufman Brief Intelligence Test–Second Edition (KBIT–2). Increasingly, psychologists are using brief measures of intelligence, but scant information exists regarding their clinical utility in various populations. 44 children referred for evaluation of ADHD were administered the KBIT–2 and WASI in counterbalanced order. Results of this study indicated the WASI to be a more stable measure of ADHD children's intelligence, that the KBIT–2 Vocabulary scores were significantly lower than the WASI Verbal score, and that there was significant variability within participants.

Needling of the Extra 1 Point Decreases BIS Values and Preoperative Anxiety

Acupuncture has anxiolytic effects. We investigated the effect of acupuncture on the Bispectral Index (BIS) values and anxiety. Fifty patients were randomly assigned to group A to receive acupuncture for 15 minutes on the extra 1 point (yintang) or to group C, where they received the same treatment on a control point located 2 cm lateral to the end of the right eyebrow. BIS values were recorded before acupuncture; during acupuncture every 30 seconds for 15 minutes and every 30 seconds for 90 seconds when the acupuncture treatment was accomplished. Anxiety level was assessed before and after acupuncture by a verbal score scale (VSS) (0=no anxiety, 10=worst anxiety). BIS values were significantly decreased during acupuncture when applied on the extra 1 point (p=0.0001) but not on the control point. Acupuncture application significantly decreased the VSS values within the A group (p=0.027) and in the C group (p=0.0001), when compared to the baseline (pre-acupuncture) VSS values. However, no differences were found between the two groups regarding BIS or VSS values. In conclusion, needling the extra 1 point preoperatively significantly decreases the BIS values and the VSS for anxiety but needling of a control point decrease only VSS values.

Answering Reading Comprehension Items without the Passages on the SAT–I

Research has shown that many items on the old SAT reading task are answered correctly when the accompanying passages are missing. The purpose of this study was to find out if the new SAT (SAT–I) is similarly flawed. Reading tasks from two parallel forms of the SAT–I were administered with and without the passages. Analysis showed that, without the passages, examinees performed much better than would be expected by chance. Also, over-all scores in the without-passage condition were strongly correlated with SAT Verbal score. Finally, an item analysis showed that more than 60% of all items were flawed. It appears that performance on the SAT–I reading task, like that on its predecessor, is primarily associated with factors unrelated to reading the passage.

Predicting Teacher Effectiveness from Graduate Admissions Predictors

An attempt to predict the teaching ability of graduate teaching assistants (as measured by student achievement and student satisfaction) from predictors of graduate-student success in graduate school suggested the following: 1) student achievement in an introductory psychology course correlates most strongly with the instructor’s GRE-Advanced score and number of psychology courses taken by the instructor as an undergraduate; 2) student satisfaction with an instructor is best predicted by the instructor’s GRE-Verbal score; and, as a result, 3) selection of the more promising graduate school applicants, as measured by the graduate predictors, may simultaneously result in the selection of better instructors.

Correlational Study of McCarthy, Wisc, and Stanford-Binet Scales

A correlational study of scores on the McCarthy Scales of Children's Abilities and the Wechsler Intelligence Scale for Children and the Stanford-Binet was conducted as an effort to demonstrate validity for the McCarthy scales. While the Binet IQ was related to the McCarthy Verbal score and General Cognitive Index, the WISC subtest scores and IQs were significantly related to McCarthy scale scores. The results indicated a lack of specificity among McCarthy scale index measures and an ambiguous definition of the General Cognitive Index.