Causal Stability Ranking

Genotypic causes of a phenotypic trait are typically determined via randomized controlled intervention experiments. Such experiments are often prohibitive with respect to durations and costs. We therefore consider inferring stable rankings of genes, according to their causal effects on a phenotype, from observational data only. Our method allows for efficient design and prioritization of future experiments, and due to its generality it is useable for a broad spectrum of applications

Children with behavioral problems and motor problems have a worse neurological condition than children with behavioral problems only

Background: Some evidence suggests that children with specific behavioral problems are at risk for motor problems. It is unclear whether neurological condition plays a role in the propensity of children with behavioral problems to develop Motor problems. Aims: To examine the relation between behavioral problems, motor performance and neurological condition in school-aged children. Study design: Cross-sectional study. Subjects: 174 children (95 boys) receiving mainstream education and 106 children (82 boys) receiving special education aged 6 to 13 years (mean 9 y 7 m, SD 1 y 10 m). Outcome measures: Behavior was assessed with questionnaires: the parental Child Behavior Checklist (CBCL) and Teacher's Report Form (TRF). Motor performance was assessed with the Movement Assessment Battery for Children (MABC). MABC-scores >= 5th percentile were considered as age-adequate and scores Results: The majority of specific behavioral problems were associated with definite motor problems, except somatic complaints and rule breaking behavior. Children with externalizing problems, according to the CBCL or TRF, and motor problems had more often MND than children with externalizing problems only. The same holds true for internalizing problems according to the CBCL Conclusions: The present study demonstrated that various forms of behavioral problems were associated with motor problems. Especially children with motor and behavioral problems showed MND. (C) 2014 Elsevier Ireland Ltd. All rights reserved

Inconsistency of the MLE for the joint distribution of interval censored survival times and continuous marks

This paper considers the nonparametric maximum likelihood estimator (MLE) for the joint distribution function of an interval censored survival time and a continuous mark variable. We provide a new explicit formula for the MLE in this problem. We use this formula and the mark specific cumulative hazard function of Huang and Louis (1998) to obtain the almost sure limit of the MLE. This result leads to necessary and sufficient conditions for consistency of the MLE which imply that the MLE is inconsistent in general. We show that the inconsistency can be repaired by discretizing the marks. Our theoretical results are supported by simulations.Comment: 27 pages, 4 figure

Ten cold clubfeet

Background and purpose — Idiopathic clubfeet are commonly treated with serial manipulation and casting, known as the Ponseti method. The use of Plaster of Paris as casting material causes both exothermic and endothermic reactions. The resulting temperature changes can create discomfort for patients. Patients and methods — In 10 patients, we used a digital thermometer with a data logger to measure below-cast temperatures to create a thermal profile of the treatment process. Results — After the anticipated temperature peak, a surprisingly large dip was observed (Tmin = 26 °C) that lasted 12 hours. Interpretation — Evaporation of excess water from a cast might be a cause for discomfort for clubfoot patients and subsequently, their caregivers

Main problems experienced by children with epidermolysis bullosa:A qualitative study with semi-structured interviews

The objective of this study was to identify and specify the problems of children with epidermolysis bullosa. The questions explored were: (i) What do children with epidermolysis bullosa experience as the most difficult problems; (it) What is the impact of these problems on their daily life; and (iii) Do these experiences differ between mildly and severely affected children? Qualitative research methodology was used, comprising a series of semi-structured interviews with children with different (sub)types of epidermolysis bullosa. The interviews were analysed systematically with help of the qualitative software package Atlas-ti. Five main themes were found: (i) having an itchy skin, (ii) being in pain, (iii) having difficulties with participation, (iv) lack of understanding of others, and (v) the feeling of being different. Severely affected children suffered most from itch and treatment-related pain. Mildly affected children had more problems with activity-related pain. Mildly affected children also had more concerns about their appearance and the teasing and staring of others than did severely affected children. Both groups had difficulties with participation, the visibility of their disease and the feeling of being different

Prescription of the first prosthesis and later use in children with congenital unilateral upper limb deficiency: A systematic review

Background: The prosthetic rejection rates in children with an upper limb transversal reduction deficiency are considerable. It is unclear whether the timing of the first prescription of the prosthesis contributes to the rejection rates. Objective: To reveal whether scientific evidence is available in literature to confirm the hypothesis that the first prosthesis of children with an upper limb deficiency should be prescribed before two years of age. We expect lower rejection rates and better functional outcomes in children fitted at young age. Methods: A computerized search was performed in several databases (Medline, Embase, Cinahl, Amed, Psycinfo, PiCarta and the Cochrane database). A combination of the following keywords and their synonyms was used: "prostheses, upper limb, upper extremity, arm and congenital''. Furthermore, references of conference reports, references of most relevant studies, citations of most relevant studies and related articles were checked for relevancy. Results: The search yielded 285 publications, of which four studies met the selection criteria. The methodological quality of the studies was low. All studies showed a trend of lower rejection rates in children who were provided with their first prosthesis at less than two years of age. The pooled odds ratio of two studies showed a higher rejection rate in children who were fitted over two years of age ( pooled OR 3.6, 95% CI 1.6-8.0). No scientific evidence was found concerning the relation between the age at which a prosthesis was prescribed for the first time and functional outcomes. Conclusion: In literature only little evidence was found for a relationship between the fitting of a first prosthesis in children with a congenital upper limb deficiency and rejection rates or functional outcomes. As such, clinical practice of the introduction of a prosthesis is guided by clinical experience rather than by evidence-based medicine

The main problems of parents of a child with epidermolysis bullosa

Epidermolysis Bullosa (EB) is a rare genetic blistering-skin disorder with varying degrees of severity, ranging from mild forms to severe forms, with chronic progression. The aim of this study was to identify and specify the problems of parents of a child with EB. Qualitative research methodology was used, comprising a series of semistructured interviews with eleven families. The key problems of parents were broken down into three themes, related to the child, the family, and the care providers. These themes comprised nine categories, including (1) the child being different, (2) the child suffering pain, (3) feelings of uncertainty, (4) restrictions on employment and leisure time, (5) difficulties in organization of care, (6) never being off-duty, (7) family problems, (8) ignorance and lack of skills of care providers, and (9) resistance to difficult care. Despite the great variance in clinical pictures of the different (sub)types of EB, the main problems parents experienced appear quite similar. However, the problems did appear to differ in extensiveness, intensity, and gravity

Stump sensibility in children with upper limb reduction deficiency

Objectives: To compare stump sensibility in children with upper limb reduction deficiency with sensibility of the unaffected arm and hand. In addition, to evaluate the associations between stump sensibility, stump length and activity level.Design: Cross-sectional study.Subjects: Children and young adults aged 6-25 years with upper limb reduction deficiency.Methods: Threshold of touch was measured with Semmes-Weinstein monofilaments, stereognosis was measured with the Shape-Texture Identification test and kinaesthesia and activity level was measured with the Child Amputee Prosthetics Project Functional Status Inventory and the Prosthetic Upper Extremity Functional Index.Results: A total of 31 children with upper limb reduction deficiency (mean age 15 years, 3 prosthesis wearers) were investigated. The threshold of touch of the stump circumference was lower (indicating higher sensibility) than of the unaffected arm (p=0.006), hand (p=0.004) and stump end-point (p=Conclusion: Threshold of touch, stereognosis and kinaesthesia of the affected sides were excellent. Threshold of touch of the stump circumference was lower (indicating higher sensibility) than of the unaffected arm and hand. High stump sensibility may clarify good functioning in the children without prostheses and contribute to prosthesis rejection.</p