Teleneuropsychology applications are growing, but a limited number of assessment tools have been studied in this context. The present investigation was designed to determine the feasibility and reliability of the Repeatable Battery for the Assessment of Neuropsychological Status (RBANS) administration by comparing video teleconference (VTC) with face-to-face (FF) test conditions. Eighteen adult subjects over age 55 with and without cognitive impairment were administered Forms A and B of the RBANS in VTC and FF settings in counterbalanced fashion. Similar RBANS scores were obtained in both test conditions, with generally high correlations between administration methods. Results support the feasibility and reliability of remote administration of the RBANS via VTC.

Objective The Montreal Cognitive Assessment (MoCA) is a cognitive screening instrument growing in popularity, but few studies have conducted psychometric item analyses or attempted to develop abbreviated forms. We sought to derive and validate a short form MoCA (SF;MoCA) and compare its classification accuracy to the standard MoCA and MMSE in mild cognitive impairment (MCI), Alzheimer disease (AD), and normal aging. Methods 408 subjects (MCI n=169, AD n=87, normal n=152) were randomly divided into derivation and validation samples. Item analysis in the derivation sample identified most sensitive MoCA items. Receiver Operating Characteristic (ROC) analyses were used to develop cutoff scores and evaluate the classification accuracy of the SF;MoCA, standard MoCA, and MMSE. Net Reclassification Improvement (NRI) analyses and comparison of ROC curves were used to compare classification accuracy of the three measures. Results Serial subtraction (Cramer's V=.408), delayed recall (Cramer's V=.702), and orientation items (Cramer's V=.832) were included in the SF;MoCA based on largest effect sizes in item analyses. Results revealed 72.6% classification accuracy of the SF; MoCA, compared with 71.9% for the standard MoCA and 67.4% for the MMSE. Results of NRI analyses and ROC curve comparisons revealed that classification accuracy of the SF;MoCA was comparable to the standard version and generally superior to the MMSE. Conclusions Findings suggest the SF;MoCA could be an effective brief tool in detecting cognitive impairment.

<b><i>Objective:</i></b> Ventriculoperitoneal (VP) shunting is commonly used to treat normal pressure hydrocephalus (NPH). Assessment of cognition and balance pre- and post-lumbar drain (LD) can be used to provide objective metrics which may help determine the potential benefit of VP shunting. The aim of this investigation was to determine which measures identify clinical change as a result of a LD trial and to develop recommendations for standard NPH clinical assessment procedures. <b><i>Methods:</i></b> The Berg Balance Scale (BBS) and a brief battery of commonly used neuropsychological tests pre- and post-LD (MMSE, trail making test, animal fluency, Hopkins Verbal Learning Test – Revised, and digit span) were administered to 86 patients with a diagnosis of NPH. Subjects were divided into groups based on whether or not clinical change was present, and thus, VP shunting was recommended post-LD, and predictors of group membership were examined. <b><i>Results:</i></b> Significant improvements (<i>p</i> &#x3c; 0.05) were seen on the BBS and Trail Making Part B in the VP shunt-recommended group, with no other significant changes over time in either group. Regression analyses found that VP shunt recommendation was accurately predicted for 80% of the sample using the BBS score alone, with accuracy increasing to 85% when Trails B was added. <b><i>Conclusions:</i></b> Scores from the BBS and Trails B were most likely to change in those chosen to undergo VP shunting post-LD. Given that the typical clinical presentation of NPH includes gait disturbance and cognitive impairment, it is recommended that a standard pre-/post-LD evaluation include the BBS and trail making test.

Aspartylglucosaminuria (AGU) is a rare lysosomal storage disorder that causes stagnation of development in adolescence and neurodegeneration in early adulthood. Precision therapies, including gene transfer therapy, are in development with a goal of taking advantage of the slow clinical course. Understanding of disease natural history and identification of disease‐relevant biomarkers are important steps in clinical trial readiness. We describe the clinical features of a diverse population of patients with AGU, including potential imaging and electrophysiological biomarkers. This is a single‐center, cross‐sectional study of the clinical, neuropsychological, electrophysiological, and imaging characteristics of AGU. A comprehensive assessment of eight participants (5 Non‐Finnish) revealed a mean non‐verbal IQ (NVIQ) of 70.25 ± 10.33 which decreased with age (rs = −0.85, p = 0.008). All participants demonstrated deficits in communication and gross/fine motor dysfunction. Auditory and visual evoked potentials demonstrated abnormalities in one or both modalities in 7 of 8 subjects, suggesting sensory pathway dysfunction. Brain imaging demonstrated T2 FLAIR hypointensity in the pulvinar nuclei and cerebral atrophy, as previously shown in the Finnish AGU population. Magnetic resonance spectroscopy (MRS) showed a 5.1 ppm peak corresponding to the toxic substrate (GlcNAc‐Asn), which accumulates in AGU. Our results showed there was no significant difference between Finnish and Non‐Finnish patients, and performance on standardized cognitive and motor testing was similar to prior studies. Age‐related changes on functional assessments and disease‐relevant abnormalities on surrogate biomarkers, such as MRS, could be used as outcome measures in a clinical trial.

ECHS1 gene encodes a mitochondrial enzyme, short-chain enoyl-CoA hydratase (SCEH). SCEH is involved in fatty acid oxidation ([Sharpe and McKenzie (2018); Mitochondrial fatty acid oxidation disorders associated with short-chain enoyl-CoA hydratase (ECHS1) deficiency, 7: 46]) and valine catabolism ([Fong and Schulz (1977); Purification and properties of pig heart crotonase and the presence of short chain and long chain enoyl coenzyme A hydratases in pig and guinea pig tissues, 252: 542-547]; [Wanders et al. (2012); Enzymology of the branched-chain amino acid oxidation disorders: The valine pathway, 35: 5-12]), and the dysfunction of SCEH leads to a severe Leigh or Leigh-like Syndrome phenotype in patients ([Haack et al. (2015); Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement, 2: 492-509]; [Peters et al. (2014); ECHS1 mutations in Leigh disease: A new inborn error of metabolism affecting valine metabolism, 137: 2903-2908]; [Sakai et al. (2015); ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndrome, 36: 232-239]; [Tetreault et al. (2015); Whole-exome sequencing identifies novel ECHS1 mutations in Leigh, 134: 981-991]). This study aims to further describe the ECHS1 deficiency phenotype using medical history questionnaires and standardized tools assessing quality of life and adaptive skills. Our findings in this largest sample of ECHS1 patients in literature to date (n = 13) illustrate a severely disabling condition causing severe developmental delays (n = 11), regression (n = 10), dystonia/hypotonia and movement disorders (n = 13), commonly with symptom onset in infancy (n = 10), classical MRI findings involving the basal ganglia (n = 11), and variability in biochemical profile. Congruent with the medical history, our patients had significantly low composite and domain scores on Vineland Adaptive Behavior Scales, Third Edition. We believe there is an increasing need for better understanding of ECHS1 deficiency with an aim to support the development of transformative genetic-based therapies, driven by the unmet need for therapies for patients with this genetic disease.