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Remote technology provides an opportunity to extend the reach of clinical care and research for pediatric rare disease. This pilot study evaluated the feasibility and reliability of neuropsychological evaluation, using remote audiovisual technology, in the assessment of children with juvenile Batten disease. Three children with Batten disease and 1 healthy sibling completed a standardized cognitive assessment. Results indicated high agreement between an in-person and a remote evaluator when comparing the subjects' cognitive test scores. This initial test of remote cognitive assessment suggests it is feasible and reliable in children with pediatric neurodegenerative disease, for whom disease burden may limit travel and access to expert care and/or clinical trials., (© The Author(s) 2015.)

Objective: The Diagnostic Interview Schedule for Children IV (DISC) has been used extensively in research and screening. Despite wide use, little information exists on the validity of the DISC for diagnosing tic disorders., Methods: Participants were 181 youth with expert clinician-diagnosed Tourette syndrome (TS)., Results: Using expert clinician-diagnosed TS as the gold standard, the sensitivity of the DISC-Y (youth, 0.27) and DISC-P (parent, 0.44) was poor. The DISC-Y identified 29.7% of youth with diagnosed TS whereas the DISC-P identified 47.4% of cases. Only 54% of cases of TS were detected by either the DISC-Y or -P. Diagnostic agreement between the DISC and expert clinician diagnosis was poor. The DISC-Y/P results did not differ as a function of tic severity., Conclusions: Despite utility for assessing child psychiatric disorders, the sensitivity of the DISC for detecting TS appears poor. This study suggests that DISC has low agreement with expert clinician diagnosis of TS. Findings highlight the need for modification of the DISC and/or the identification and development of more sensitive measures for TS screening.

Evidence suggests that children and adults diagnosed with autism spectrum disorders (ASD) exhibit difficulties with postural control. Retrospective video studies of infants later diagnosed with ASD indicate that infants who eventually receive an ASD diagnosis exhibit delays in postural development. This study investigates early posture development prospectively and longitudinally in 22 infants at heightened biological risk for ASD (HR) and 18 infants with no such risk (Low Risk; LR). Four HR infants received an autism diagnosis (AD infants) at 36 months. Infants were videotaped at home at 6, 9, 12, and 14 months during everyday activities and play. All infant postures were coded and classified as to whether or not they were infant-initiated. Relative to LR infants, HR infants were slower to develop skill in sitting and standing postures. AD infants exhibited substantial delays in the emergence of more advanced postures and initiated fewer posture changes. Because posture advances create opportunities for infants to interact with objects and people in new and progressively more sophisticated ways, postural delays may have cascading effects on opportunities for infant exploration and learning. These effects may be greater for infants with ASD, for whom posture delays are more significant.

Kannisto (2001) has shown that as the frequency distribution of ages at death has shifted to the right, the age distribution of deaths above the modal age has become more compressed. In order to further investigate this old-age mortality compression, we adopt the simple logistic model with two parameters, which is known to fit data on old-age mortality well (Thatcher 1999). Based on the model, we show that three key measures of old-age mortality (the modal age of adult deaths, the life expectancy at the modal age, and the standard deviation of ages at death above the mode) can be estimated fairly accurately from death rates at only two suitably chosen high ages (70 and 90 in this study). The distribution of deaths above the modal age becomes compressed when the logits of death rates fall more at the lower age than at the higher age. Our analysis of mortality time series in six countries, using the logistic model, endorsed Kannisto's conclusion. Some possible reasons for the compression are discussed.

"Recent new data on old age mortality point to a particular model for the way in which the probability of dying increases with age. The model is found to fit not only modern data but also some widely spaced historical data for the 19th and 17th centuries, and even some estimates for the early mediaeval period. The results show a pattern which calls for explanation. The model can also be used to predict a probability distribution for the highest age which will be attained in given circumstances. The results are relevant to the current debate about whether there is a fixed upper limit to the length of human life." A discussion of the paper by several researchers and a reply by the author are included., (excerpt)

The paper describes an application of Bayes' Theorem to the problem of estimating from past data the probabilities that patients have certain diseases, given their symptoms. The data consist of hospital records of patients who suffered acute abdominal pain. For each patient the records showed a large number of symptoms and the final diagnosis to one of nine diseases or diagnostic groups. Most current methods of computer diagnosis use the "Simple Bayes" model in which the symptoms are assumed to be independent, but the present paper does not make this assumption. Those symptoms (or lack of symptoms) which are most relevant to the diagnosis of each disease are identified by a sequence of chi-squared tests. The computer diagnoses obtained as a result of the implementation of this approach are compared with those given by the "Simple Bayes" method, by the method of classification trees (CART), and also with the preliminary and final diagnoses made by physicians.