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

Auditory dysfunction in chronic inflammatory demyelinating polyradiculoneuropathy.

Contains fulltext : 58514.pdf (publisher's version ) (Open Access

Inherited Cerebellar Syndromes expanding the pheno- and genotype.

Contains fulltext : 26937_inhecesy.pdf (publisher's version ) (Open Access)RU Radboud Universiteit Nijmegen, 16 juni 2005Promotores : Kremer, H.P.H., Zwarts, M.J. Co-promotor : Hageman, G.128 p

Firing pattern of fasciculations in ALS: evidence for axonal and neuronal origin.

Contains fulltext : 70233.pdf (publisher's version ) (Open Access)BACKGROUND: In amyotrophic lateral sclerosis (ALS), the origin of fasciculations is disputed. We hypothesized that the discharge pattern of fasciculation potentials (FPs) would be different for FPs arising in the motor axon or in the spinal motor neuron. METHOD: FPs were recorded by high-density surface EMG of the biceps brachii or vastus lateralis muscle for 15 minutes in 10 patients with ALS. Records were decomposed into different FP waveforms and their firing moments. Interspike interval (ISI) histograms were constructed for FPs that fired more than 100 times. RESULTS: Two types of ISI histograms were found. 1) In 23 of 30 different FPs with a total of 8,597 ISIs, the refractory period was 3 to 4 msec. ISIs longer than 15 msec had a Poisson distribution. Five of these 23 FPs discharged doublets with an ISI of approximately 5 msec, indicative of supernormality. This is consistent with the FPs arising in motor axons. 2) In the other 7 FPs, accounting for 11,266 ISIs, the refractory period was 17 to 46 msec. The preferred ISI duration was around 80 msec. Both timing factors are consistent with origin in the spinal motor neuron. CONCLUSIONS: Firing pattern analysis, based on high-density surface EMG, can detect fasciculation potentials (FPs) of axonal and neuronal origin in amyotrophic lateral sclerosis. The two FP types coexist within the same muscle. The recognition that clinically identical fasciculations conceal the existence of two types of FP that can be studied in a noninvasive manner will introduce a new aspect in the research of motor neuron disease

SCA19 and SCA22: evidence for one locus with a worldwide distribution.

Contains fulltext : 59319.pdf (publisher's version ) (Open Access

Phenytoin as a last-resort treatment in SCN8A encephalopathy.

Contains fulltext : 175085.pdf (publisher's version ) (Open Access

Demyelinating polyneuropathy in Leber hereditary optic neuropathy.

Contains fulltext : 51239.pdf (publisher's version ) (Closed access)We report a patient with Leber hereditary optic neuropathy (G11778A mtDNA) and a severe demyelinating neuropathy, for which no other cause except his mitochondrial disorder could be found. The involvement of the peripheral nervous system of patients with LHON, in particular with a 11778 mtDNA, is discussed

Primary respiratory failure in inclusion body myositis.

Contains fulltext : 59324.pdf (publisher's version ) (Open Access

Treatment-responsive pudendal dysfunction in chronic inflammatory demyelinating polyneuropathy.

Contains fulltext : 52470.pdf (publisher's version ) (Open Access