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Recently, CLPB deficiency has been shown to cause a genetic syndrome with cataracts, neutropenia, and 3-methylglutaconic aciduria. Surprisingly, the neurological presentation ranges from completely unaffected to patients with virtual absence of development. Muscular hypo- and hypertonia, movement disorder and progressive brain atrophy are frequently reported. We present the foetal, peri- and neonatal features of 31 patients, of which five are previously unreported, using a newly developed clinical severity scoring system rating the clinical, metabolic, imaging and other findings weighted by the age of onset. Our data are illustrated by foetal and neonatal videos. The patients were classified as having a mild (n = 4), moderate (n = 13) or severe (n = 14) disease phenotype. The most striking feature of the severe subtype was the neonatal absence of voluntary movements in combination with ventilator dependency and hyperexcitability. The foetal and neonatal presentation mirrored the course of disease with respect to survival (current median age 17.5 years in the mild group, median age of death 35 days in the severe group), severity and age of onset of all findings evaluated. CLPB deficiency should be considered in neonates with absence of voluntary movements, respiratory insufficiency and swallowing problems, especially if associated with 3-methylglutaconic aciduria, neutropenia and cataracts. Being an important differential diagnosis of hyperekplexia (exaggerated startle responses), we advise performing urinary organic acid analysis, blood cell counts and ophthalmological examination in these patients. The neonatal presentation of CLPB deficiency predicts the course of disease in later life, which is extremely important for counselling.

Background Stroke is a worldwide cause of disability; 40% of stroke survivors sustain cognitive impairments, most of them following inpatient rehabilitation at specialized clinical centers. Web-based cognitive rehabilitation tasks are extensively used in clinical settings. The impact of task execution depends on the ratio between the skills of the treated patient and the challenges imposed by the task itself. Thus, treatment personalization requires a trade-off between patients’ skills and task difficulties, which is still an open issue. In this study, we propose Elo ratings to support clinicians in tasks assignations and representing patients’ skills to optimize rehabilitation outcomes. Objective This study aims to stratify patients with ischemic stroke at an early stage of rehabilitation into three levels according to their Elo rating; to show the relationships between the Elo rating levels, task difficulty levels, and rehabilitation outcomes; and to determine if the Elo rating obtained at early stages of rehabilitation is a significant predictor of rehabilitation outcomes. Methods The PlayerRatings R library was used to obtain the Elo rating for each patient. Working memory was assessed using the DIGITS subtest of the Barcelona test, and the Rey Auditory Verbal Memory Test (RAVLT) was used to assess verbal memory. Three subtests of RAVLT were used: RAVLT learning (RAVLT075), free-recall memory (RAVLT015), and recognition (RAVLT015R). Memory predictors were identified using forward stepwise selection to add covariates to the models, which were evaluated by assessing discrimination using the area under the receiver operating characteristic curve (AUC) for logistic regressions and adjusted R2 for linear regressions. Results Three Elo levels (low, middle, and high) with the same number of patients (n=96) in each Elo group were obtained using the 50 initial task executions (from a total of 38,177) for N=288 adult patients consecutively admitted for inpatient rehabilitation in a clinical setting. The mid-Elo level showed the highest proportions of patients that improved in all four memory items: 56% (54/96) of them improved in DIGITS, 67% (64/96) in RAVLT075, 58% (56/96) in RAVLT015, and 53% (51/96) in RAVLT015R (P Conclusions Elo ratings can support clinicians in early rehabilitation stages in identifying cognitive profiles to be used for assigning task difficulty levels.