Age-related improvement in complex language comprehension: Results of a cross-sectional study with 361 children aged 5 to 15

We investigated age-related improvement in speed and accuracy of complex language comprehension with 361 children attending kindergarten and the 2nd, 4th, 6th, 7th, and 8th grades. Language comprehension was measured using both the neuropsychological procedure proposed by Luria (1966, 1980) and an adapted version of the Token Test. Levels of short-term memory and verbal intelligence were controlled for in the evaluation of language comprehension. The findings show that the accuracy of language comprehension continued to develop until the 6th grade, whereas the speed of language comprehension continued to improve up until the 7th grade. We thus conclude that the complex language comprehension of children is not fully developed until early adolescence. We further contend that the speed of complex language comprehension appears to be more sensitive than accuracy with respect to measuring developmental differences

Encoding order and developmental dyslexia:a family of skills predicting different orthographic components

We investigated order encoding in developmental dyslexia using a task that presented nonalphanumeric visual characters either simultaneously or sequentially—to tap spatial and temporal order encoding, respectively—and asked participants to reproduce their order. Dyslexic participants performed poorly in the sequential condition, but normally in the simultaneous condition, except for positions most susceptible to interference. These results are novel in demonstrating a selective difficulty with temporal order encoding in a dyslexic group. We also tested the associations between our order reconstruction tasks and: (a) lexical learning and phonological tasks; and (b) different reading and spelling tasks. Correlations were extensive when the whole group of participants was considered together. When dyslexics and controls were considered separately, different patterns of association emerged between orthographic tasks on the one side and tasks tapping order encoding, phonological processing, and written learning on the other. These results indicate that different skills support different aspects of orthographic processing and are impaired to different degrees in individuals with dyslexia. Therefore, developmental dyslexia is not caused by a single impairment, but by a family of deficits loosely related to difficulties with order. Understanding the contribution of these different deficits will be crucial to deepen our understanding of this disorder

Longitudinal follow-up of verbal span and processing speed in Duchenne muscular dystrophy

Neurocognitive deficits are frequently described in Duchenne muscular dystrophy (DMD), but it is unknown how these progress over time. Our aim was to longitudinally assess verbal span capacity and information processing speed in DMD and to explore a genotype-phenotype relation. Verbal span and processing speed scores were available of 28 males with DMD on two time-points, with a mean time interval of 28.34 months (SD = 16.09). The cohort contained of six patients missing only dystrophin isoform Dp427, sixteen missing Dp427 and Dp140, and six were undeterminable. A lower verbal span capacity was found at the first and second assessment, whereas processing speed was normal at both time-points. Post-hoc analyses suggested lower scores on verbal span and processing speed for patients missing Dp427 and Dp140. In DMD, a developmental stagnation in verbal span capacity, irrespective of normal processing speed, is detected through longitudinal follow-up. This appears more pronounced in patients missing Dp427 and Dp140. (C) 2020 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.Neuro Imaging Researc

Dopamine transporter in attention-deficit hyperactivity disorder normalizes after cessation of methylphenidate

Attention-deficit hyperactivity disorder (ADHD) is a common neurodevelopmental disorder of childhood, which is frequently treated with methylphenidate. The short-term response to treatment with methylphenidate is a substantial decrease in dopamine transporter density, with improvement in neuropsychological tests. In this study, single-photon emission computed tomography was used to investigate possible long-term alterations in the cerebral dopamine system after cessation of treatment with methylphenidate in five children with ADHD. Three months after initiation of treatment with methylphenidate, a reduction of the dopamine transporter in the striatal system was observed. Methylphenidate was administered for a period of 9 to 20 months. Follow-up with single-photon emission computed tomography after withdrawal of methylphenidate medication disclosed an increase of dopamine transporter activity comparable with pretreatment values. The observed upregulation of dopamine transporter activity might support the assumption that methylphenidate does not lead to permanent damage of the nigrostriatal dopaminergic pathways

AChR deficiency due to ε-subunit mutations: Two common mutations in the Netherlands

Congenital myasthenic syndromes are a clinically and genetically heterogeneous group of hereditary disorders affecting neuromuscular transmission. We have identified mutations within the acetylcholine receptor (AChR) ε-subunit gene underlying congenital myasthenic syndromes in nine patients (seven kinships) of Dutch origin. Previously reported mutations ε1369delG and εR311Q were found to be common; ε1369delG was present on at least one allele in seven of the nine patients, and εR311Q in six. Phenotypes ranged from relatively mild ptosis and external ophthalmoplegia to generalized myasthenia. The common occurrence of εR311Q and ε1369delG suggests a possible founder for each of these mutations originating in North Western Europe, possibly in Holland. Knowledge of the ethnic or geographic origin within Europe of AChR deficiency patients can help in targeting genetic screening and it may be possible to provide a rapid genetic diagnosis for patients of Dutch origin by screening first for εR311Q and ε1369delG

Low- and high-level controlled processing in executive motor control tasks in 5-6-year-old children at risk of ADHD

Low- and high-level controlled processing in executive motor control tasks in 5-6-year-old children at risk of ADHD. Kalff AC, de Sonneville LM, Hurks PP, Hendriksen JG, Kroes M, Feron FJ, Steyaert J, van Zeben TM, Vles JS, Jolles J. Department of Psychiatry and Neuropsychology, University of Maastricht, The Netherlands. [email protected] BACKGROUND: The scant research on the characteristics of Attention-Deficit/Hyperactivity Disorder (ADHD) in kindergarten years curtails progress on early assessment of ADHD. METHOD: By screening a general population sample of 1317 five- to six-year-old children, four groups of children were selected. The performance of 30 children later diagnosed with ADHD was compared with 74 children later diagnosed with 'borderline ADHD' (children exhibiting all ADHD symptoms but without disruptions on two situations), 113 children later diagnosed with other psychopathology, and 126 healthy controls on computerised motor control tasks involving low- and high-level controlled processing. In addition, motor control was compared with movement speed. RESULTS: The children at risk of ADHD were in general less accurate and more variable in their movements than the children with other psychopathology and healthy controls. Under conditions of high-level controlled processing, the children at risk of ADHD were disproportionately more inaccurate and had a more unstable performance with their preferred hand than the other children. In addition, linear effects were found, with the children at risk of ADHD having the worst performance, followed by the children with 'borderline ADHD', and then both groups of control children. No significant group differences were found in movement speed. CONCLUSIONS: The main findings are interpreted as evidence for a specific deficit in high-level controlled processing in young children at risk of ADHD, now found in a motor task, rather than a response task. Furthermore, the results support the notion that ADHD represents a dimensional trait. In addition, problems in movement control (the need to allocate attentional capacity) rather than problems in movement speed distinguish children at risk of ADHD from other children. The findings are interpreted as evidence that higher-order executive processes, such as self-control and self-r

Long-term outcomes for females with early-onset dystrophinopathy

Aim: To study long-term disease course for females with early-onset dystrophinopa-thy,  including  common  (female)  symptoms,  challenges  in  social  participation,  the  need for care, and current healthcare management to support guideline development.Method: Twelve females with early-onset dystrophinopathy were followed for a me-dian period of more than 17 years (range 1–36).Results: One patient died owing to end-stage cardiac failure. Cardiac abnormalities were  observed  in  three  of  the  remaining  11  participants.  Respiratory  function  was  reduced in seven of 10 participants. Fatigue, myalgia, lower back pain, and arthralgia were  reported  in  more  than  six  of  the  participants.  Functional  status  varied  from  exercise intolerance to wheelchair dependency. Most or all of the 10 participants re-ported restrictions in participation in work (n = 10), household duties (n = 10), sports (n = 9), and education (n = 8). Only a few participants received followed-up pulmo-nary (n = 2) or rehabilitation (n = 3) care.Interpretation: Females with early-onset dystrophinopathy experience a wide range of  impairments,  comorbidities,  limitations  in  activities,  and  restrictions  in  social  participation.  The  whole  spectrum  should  be  acknowledged  in  the  healthcare  set-ting.  Neuromuscular  and  cardiac  follow-up  are  indispensable.  Additional  respira-tory  assessment  and  rehabilitation  care  are  expected  to  improve  health  status  and  support daily activities and participation.This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.© 2022 The Authors. Developmental Medicine & Child Neurology published by John Wiley & Sons Ltd on behalf of Mac Keith Press.Abbreviations: DMD, Duchenne muscular dystrophy; USER- P, Utrecht Scale for Evaluation of Rehabilitation- Participation..This original article is commented on by Politano on pages 1001–1002 of this issue.Genetics of disease, diagnosis and treatmen

Incidence and outcome of acquired demyelinating syndromes in Dutch children: update of a nationwide and prospective study

Introduction: Acquired demyelinating syndromes (ADS) are immune-mediated demyelinating disorders of the central nervous system in children. A nationwide, multicentre and prospective cohort study was initiated in the Netherlands in 2006, with a reported ADS incidence of 0.66/100,000 per year and MS incidence of 0.15/100,000 per year in the period between 2007 and 2010. In this study, we provide an update on the incidence and the long-term follow-up of ADS in the Netherlands. Methods: Children < 18 years with a first attack of demyelination were included consecutively from January 2006 to December 2016. Diagnoses were based on the International Paediatric MS study group consensus criteria. Outcome data were collected by neurological and neuropsychological assessments, and telephone call assessments. Results: Between 2011 and 2016, 55/165 of the ADS patients were diagnosed with MS (33%). This resulted in an increased ADS and MS incidence of 0.80/100,000 per year and 0.26/100,000 per year, respectively. Since 2006 a total of 243 ADS patients have been included. During follow-up (median 55 months, IQR 28–84), 137 patients were diagnosed with monophasic disease (56%), 89 with MS (37%) and 17 with multiphasic disease other than MS (7%). At least one form of residual deficit including cognitive impairment was observed in 69% of all ADS patients, even in monophasic ADS. An Expanded Disability Status Scale score of ≥ 5.5 was reached in 3/89 MS patients (3%). Conclusion: The reported incidence of ADS in Dutch children has increased since 2010. Residual deficits are common in this group, even in monophasic patients. Therefore, long-term follow-up in ADS patients is warranted