An Unusual Triad in Pediatric Neurology:A Case Report on Cerebral Palsy, Epilepsy, and Duchenne Muscular Dystrophy

We present a case of an unusual triad in pediatric neurology: a currently 12-year-old boy with cerebral palsy and epilepsy who was later also diagnosed with Duchenne muscular dystrophy. We describe the clinical path that resulted in this exceptional diagnosis. This case report illustrates how different neurological disorders may overshadow each other. In addition, it demonstrates that every child with cerebral palsy and either an atypical clinical course or with inexplicable laboratory values-as well as every infant boy born to a theoretical Duchenne muscular dystrophy carrier-should be subjected to additional investigations.</p

A Study on the Validity of a Computer-Based Game to Assess Cognitive Processes, Reward Mechanisms, and Time Perception in Children Aged 4-8 Years

BACKGROUND: A computer-based game, named Timo's Adventure, was developed to assess specific cognitive functions (eg, attention, planning, and working memory), time perception, and reward mechanisms in young school-aged children. The game consists of 6 mini-games embedded in a story line and includes fantasy elements to enhance motivation. OBJECTIVE: The aim of this study was to investigate the validity of Timo's Adventure in normally developing children and in children with attention-deficit/hyperactivity disorder (ADHD). METHODS: A total of 96 normally developing children aged 4-8 years and 40 children with ADHD were assessed using the game. Clinical validity was investigated by examining the effects of age on performances within the normally developing children, as well as performance differences between the healthy controls and the ADHD group. RESULTS: Our analyses in the normally developing children showed developmental effects; that is, older children made fewer inhibition mistakes (r=-.33, P=.001), had faster (and therefore better) reaction times (r=-.49, P<.001), and were able to produce time intervals more accurately than younger children (ρ=.35, P<.001). Discriminant analysis showed that Timo's Adventure was accurate in most classifications whether a child belonged to the ADHD group or the normally developing group: 78% (76/97) of the children were correctly classified as having ADHD or as being in the normally developing group. The classification results showed that 72% (41/57) children in the control group were correctly classified, and 88% (35/40) of the children in the ADHD group were correctly classified as having ADHD. Sensitivity (0.89) and specificity (0.69) of Timo's Adventure were satisfying. CONCLUSIONS: Computer-based games seem to be a valid tool to assess specific strengths and weaknesses in young children with ADHD

Accuracy of self-reported body weight, height and waist circumference in a Dutch overweight working population

<p>Abstract</p> <p>Background</p> <p>In population studies, body mass index (BMI) is generally calculated from self-reported body weight and height. The self-report of these anthropometrics is known to be biased, resulting in a misclassification of BMI status. The aim of our study is to evaluate the accuracy of self-reported weight, height and waist circumference among a Dutch overweight (Body Mass Index [BMI] ≥ 25 kg/m²) working population, and to determine to what extent the accuracy was moderated by sex, age, BMI, socio-economic status (SES) and health-related factors.</p> <p>Methods</p> <p>Both measured and self-reported body weight and body height were collected in 1298 healthy overweight employees (66.6% male; mean age 43.9 ± 8.6 years; mean BMI 29.5 ± 3.4 kg/m²), taking part in the ALIFE@Work project. Measured and self-reported waist circumferences (WC) were available for a sub-group of 250 overweight subjects (70.4% male; mean age 44.1 ± 9.2 years; mean BMI 29.6 ± 3.0 kg/m²). Intra Class Correlation (ICC), Cohen's kappa and Bland Altman plots were used for reliability analyses, while linear regression analyses were performed to assess the factors that were (independently) associated with the reliability.</p> <p>Results</p> <p>Body weight was significantly (p < 0.001) under-reported on average by 1.4 kg and height significantly (p < 0.001) over-reported by 0.7 cm. Consequently, BMI was significantly (p < 0.001) under-reported by 0.7 kg/m². WC was significantly (p < 0.001) over-reported by 1.1 cm. Although the self-reporting of anthropometrics was biased, ICC's showed high concordance between measured and self-reported values. Also, substantial agreement existed between the prevalences of BMI status and increased WC based on measured and self-reported data. The under-reporting of BMI and body weight was significantly (p < 0.05) affected by measured weight, height, SES and smoking status, and the over-reporting of WC by age, sex and measured WC.</p> <p>Conclusion</p> <p>Results suggest that self-reported BMI and WC are satisfactorily accurate for the assessment of the prevalence of overweight/obesity and increased WC in a middle-aged overweight working population. As the accuracy of self-reported anthropometrics is affected by measured weight, height, WC, smoking status and/or SES, results for these subgroups should be interpreted with caution. Due to the large power of our study, the clinical significance of our statistical significant findings may be limited.</p> <p>Trial Registration</p> <p>ISRCTN04265725</p

Muscle and brain: a dyad with important diagnostic and therapeutic implications

This commentary is on the original article by ricotti et al. On pages 77–84 of this issue

Development of a New Self-Reporting Instrument Measuring Benefits and Side Effects of Corticosteroids in Duchenne Muscular Dystrophy: Report from a Pilot Study

BACKGROUND: There is no cure for Duchenne Muscular Dystrophy (DMD); treatment is symptomatic and corticosteroids slow the progression. Side effects of corticosteroids - especially the physical effects - have been described, however patients' and caregivers perception on chronic corticosteroid treatment and their side effects is less well known, in particular with regards to cognition, behaviour, and emotional functioning. OBJECTIVE: The primary aim of this pilot study was to (i) construct a self-report questionnaire to assess the perceived benefits and side effects of corticosteroids for patients with DMD and their parents. Furthermore we aimed to (ii) investigate the psychometric qualities of this questionnaire, (iii) whether there was a difference between parents' and patient's perceptions, and finally (iv) to what extent reported side effects may alter over time. METHODS: A 23-item questionnaire (SIDECORT: side effect of corticosteroids) was constructed to assess the perception of these benefits and side effects in a systematic manner. RESULTS: In total, 86 patients (aged 5 - 28 years) and 125 of their parents completed the questionnaire. Internal consistency was good. Using factor analyses on the side effect items as reported by parents, two underlying factors were found, with the first factor describing cognitive, behavioural and emotional functioning, and the second factor describing physical functioning. The potential benefits of corticosteroids were highly rated among both parents and patients, although parents rated the importance of the benefits higher than their sons (p = 0.002). Similarly, parents rated the severity of the side effects generally higher than their sons (p = 0.011), especially with regards to the physical side effects (p = 0.014). Based on the parent's perception, the neurodevelopmental side effects generally appeared to decline the longer corticosteroids were used. CONCLUSIONS: To our knowledge, this is the first explicit study on perceived cognitive-, behavioural-, and emotional side effects and the allocation of benefits to corticosteroids in DMD. On the basis of our research we suggest a short form questionnaire, which proves to be reliable and valid for research- and clinical practice. This questionnaire could provide useful insights for the care of boys and men with DMD

The Neurocognitive and Behavioral Profiles of 3 Brothers With Becker Muscular Dystrophy

Becker muscular dystrophy patients generally carry in-frame mutations in the dystrophin gene, allowing the production of partially functional dystrophin protein. The presence of cognitive and behavioral comorbidities and the relation with the location of mutations has been scarcely investigated in Becker. This case report describes the neurocognitive and behavioral profiles of 3 brothers with Becker carrying an in-frame deletion of exons 45-48. The 3 cases underwent 2 consecutive neuropsychological assessments of which one assessment took place when they completed their primary education (age range of the cases: 11.2 -12.1 years). Intellectual abilities were normal to high and all cases had difficulties with processing speed and math. The brothers differed in intellectual abilities, executive functions, working memory, attention and reading abilities. Variability in cognitive development was noted as well. This report suggests that cognitive and behavioral functions in Becker vary regardless of gene mutation and exposer to similar environmental factors

Efficacy of methylphenidate treatment in childhood myotonic dystrophy type 1 and comorbid attention deficit hyperactivity disorder:A case report using eye tracking assessment

INTRODUCTION: Despite the increased prevalence of comorbid attention deficit hyperactivity disorder (ADHD) in children with myotonic dystrophy type 1, the effects of methylphenidate treatment on associated cognitive deficits in this population is not yet investigated. CASE: We describe a case study of an eleven-year-old male patient with myotonic dystrophy type 1 and comorbid ADHD that was treated with methylphenidate in a twice daily regime (0.60 mg/kg/day). Positive effects on learning and cognition were reported by the parents and teachers. No negative side effects were reported. Sequential neuropsychological assessments before and 45 minutes after methylphenidate intake were conducted to quantify the cognitive effects of methylphenidate treatment. Significant improvements in regulation of attention were behaviorally observed and were quantified using eye tracking technology. CONCLUSION: We conclude that methylphenidate may be an effective treatment for ADHD-related cognitive deficits and learning difficulties in children with myotonic dystrophy type 1 which merits further research