Classification of intellectual disability according to domains of adaptive functioning and between-domains discrepancy in adults with epilepsy

Background In the Diagnostic and Statistical Manual of Mental Disorders-Fifth edition (DSM-5), the diagnostic criteria of intellectual disability (ID) include three domains of adaptive deficits: the conceptual, social and practical. Substantial intra-individual differences between domains can be considered an ID domain discrepancy. Method We explored the associations between ID domains, discrepancies and epilepsy in 189 adults (mean age = 47.9; SD = 15.6). Each DSM-5 ID domain was assessed separately, using subscales of the Vineland II for the social and practical domains, and psychological instruments, including intelligence tests, for the conceptual domain. A set of standardised criteria is proposed to identify an ID domain discrepancy. Results An ID domain discrepancy seemed to be present in about one-third of subjects and was particularly present in subjects with moderate ID (53.4%). Impairment in the social domain was most often the reason for the discrepancy. The presence of a discrepancy was significantly related to a focal (localised) epilepsy type (OR = 2.3, P = .028) and a mixed seizure type (OR = 1.4, P = .009). Epilepsy characteristics that are indicative of a more severe and refractory epilepsy, including various seizure types, a high seizure frequency, a combined epilepsy type (both focal and generalised epilepsy) and an early age at onset, were significantly related to more severe impairments in conceptual, social and practical adaptive behaviour (all P values <.01). Conclusions With a substantial proportion of the subjects who had both ID and epilepsy with an ID discrepancy, professionals should be aware of this and take all domains of ID into account when studying or working with this vulnerable population

249th ENMC international workshop the role of brain dystrophin in muscular dystrophy: implications for clinical care and translational research, Hoofddorp, the Netherlands, november 29th-december 1st 2019

Neuro Imaging Researc

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

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

Resting-state functional MRI shows altered default-mode network functional connectivity in Duchenne muscular dystrophy patients

Duchenne muscular dystrophy (DMD) is an X-linked recessive neuromuscular disorder caused by absence of dystrophin protein. Dystrophin is expressed in muscle, but also in the brain. Difficulties with attention/inhibition, working memory and information processing are well described in DMD patients but their origin is poorly understood. The default mode network (DMN) is one of the networks involved in these processes. Therefore we aimed to assess DMN connectivity in DMD patients compared to matched controls, to better understand the cognitive profile in DMD. T1-weighted and resting state functional MRI scans were acquired from 33 DMD and 24 male age-matched controls at two clinical sites. Scans were analysed using FMRIB Software Library (FSL). Differences in the DMN were assessed using FSL RANDOMISE, with age as covariate and threshold-free cluster enhancement including multiple comparison correction. Post-hoc analyses were performed on the visual network, executive control network and fronto-parietal network with the same methods. In DMD patients, the level of connectivity was higher in areas within the control DMN (hyperconnectivity) and significant connectivity was found in areas outside the control DMN. No hypoconnectivity was found and no differences in the visual network, executive control network and fronto-parietal network. We showed differences both within and in areas outside the DMN in DMD. The specificity of our findings to the DMN can help provide a better understanding of the attention/inhibition, working memory and information processing difficulties in DMD.Neuro Imaging Researc

Reliability and validity of the Dutch Anxiety, Depression And Mood Scale in adults aged <50 years with intellectual disabilities

Background: Reliable and valid screening instruments for depression and anxiety are needed for adults with intellectual disabilities. Methods: Internal consistency (n = 198), inter-rater reliability (n = 41), test–retest reliability (n = 37) and criterion validity (n = 43) were studied in adults aged between 18 and 49 years. Internal consistency was also studied in a sample with epilepsy (n = 98). Results: Internal consistencies of the Dutch ADAMS total scale and subscales were satisfactory to good (α = 0.76–0.92), as well as in the subgroup with epilepsy (α = 0.74–0.88). Inter-rater reliability and test–retest reliability were fair to excellent for the total scale (ICC’s: 0.57–0.84) and subscales (ICC’s: 0.43–0.86). The criterion validity of the Dutch ADAMS Depressive Mood subscale was good with a sensitivity of 88% (95% CI: 53%–98%) and a specificity of 80% (95% CI: 64%–90%). Conclusions: Our study shows that the Dutch ADAMS is a reliable and valid instrument for adults aged between 18 and 49 years with intellectual disabilities (and comorbid epilepsy)

Reliability and validity of the Dutch Anxiety, Depression And Mood Scale in adults aged <50 years with intellectual disabilities

Background: Reliable and valid screening instruments for depression and anxiety are needed for adults with intellectual disabilities. Methods: Internal consistency (n = 198), inter-rater reliability (n = 41), test–retest reliability (n = 37) and criterion validity (n = 43) were studied in adults aged between 18 and 49 years. Internal consistency was also studied in a sample with epilepsy (n = 98). Results: Internal consistencies of the Dutch ADAMS total scale and subscales were satisfactory to good (α = 0.76–0.92), as well as in the subgroup with epilepsy (α = 0.74–0.88). Inter-rater reliability and test–retest reliability were fair to excellent for the total scale (ICC’s: 0.57–0.84) and subscales (ICC’s: 0.43–0.86). The criterion validity of the Dutch ADAMS Depressive Mood subscale was good with a sensitivity of 88% (95% CI: 53%–98%) and a specificity of 80% (95% CI: 64%–90%). Conclusions: Our study shows that the Dutch ADAMS is a reliable and valid instrument for adults aged between 18 and 49 years with intellectual disabilities (and comorbid epilepsy)

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

Occurrence of symptoms in different stages of Duchenne muscular dystrophy and their impact on social participation

Introduction/Aims: As life expectancy improves for patients with Duchenne muscular dystrophy (DMD), new symptoms are likely to arise. This aims of this study are: (1) to explore the prevalence of a broad variety of symptoms in the various stages of DMD (with and without steroid use); (2) to explore the prevalence of common secondary diagnoses; and (3) to evaluate the social participation level of patients with DMD older than 16 y of age; and to explore correlations between social participation and symptoms.Methods A cross-sectional self-report questionnaire, including questions on functional level and health status, as well as a standardized participation scale was distributed among Dutch patients with DMD.Results Eighty-four male patients with a mean age of 22.0 (SD = 10.0) y were enrolled. The most prevalent and limiting symptoms were difficulty coughing (58%), coldness of hands (57%), contractures (51%), stiffness (49%), fatigue (40%), myalgia (38%), and low speech volume (33%). Prevalent secondary diagnoses included cardiac disease (14%), neurobehavioral diagnosis (13%), low blood pressure (13%), and arthrosis (5%). Social participation correlated negatively with coldness of hands (r = - .29; P < .03), decreased intelligibility (r = - .40; P < .003), and chewing problems (r = - .33; P < .02).Discussion The prevalence of a broad spectrum of symptoms and secondary diagnoses is high in patients with DMD, and some of these symptoms are correlated with social participation. Growing awareness of new symptoms and secondary diagnoses among patients, caregivers, and professionals can enhance their recognition, possibly facilitating prevention and early treatment.Neurological Motor Disorder