Acquisition of sentence frame discrimination using the iPad™ as a speech generating device in young children with developmental disabilities

This study evaluated the use of the iPad™ and application Proloqu2Go as a speech generating device (SGD) for the acquisition of a tact (labeling) repertoire in three preschool aged children with Autism Spectrum Disorder or developmental delay. Additionally, discrimination between picture icons and sentence frames were investigated. Using a five second time delay, with full physical prompts, participants were taught to label four items using the carrier phrases “I see” and “I have”. Following the acquisition of those frames in isolation, training on discriminating between those frames was introduced. The results indicate that the training procedures were effective for this purpose, thus contributing to the already existing literature on the use of handheld computing devices as SGD.     

Clinical utility of a personalized and long-term monitoring device for Parkinson's disease in a real clinical practice setting: An expert opinion survey on STAT-ON™

BackgroundSTAT-ON™ is an objective tool that registers ON-OFF fluctuations making possible to know the state of the patient at every moment of the day in normal life. Our aim was to analyze the opinion of different Parkinson's disease experts about the STAT-ON™ tool after using the device in a real clinical practice setting (RCPS).MethodsSTAT-ON™ was provided by the Company Sense4Care to Spanish neurologists for using it in a RCPS. Each neurologist had the device for at least three months and could use it in PD patients at his/her own discretion. In February 2020, a survey with 30 questions was sent to all participants.ResultsTwo thirds of neurologists (53.8% females; mean age 44.9 ± 9 years old) worked in a Movement Disorders Unit, the average experience in PD was 16 ± 6.9 years, and 40.7% of them had previously used other devices. A total of 119 evaluations were performed in 114 patients (range 2–9 by neurologist; mean 4.5 ± 2.3). STAT-ON™ was considered “quite” to “very useful” by 74% of the neurologists with an overall opinion of 6.9 ± 1.7 (0, worst; 10, best). STAT-ON™ was considered better than diaries by 70.3% of neurologists and a useful tool for the identification of patients with advanced PD by 81.5%. Proper identification of freezing of gait episodes and falls were frequent limitations reported.ConclusionSTAT-ON™ could be a useful device for using in PD patients in clinical practice.     

The Salford Gait Tool: Does the clinical experience of the raters influence the inter-rater reliability?

Purpose: The purpose of this study was to verify if the amount of experience or the specific professional field of the raters may influence inter-rater reliability of the Salford Gait Tool (SF-GT). Methods: Standardized videos of gait of seven children with cerebral palsy were recorded and assessed by three physiotherapists with experience in pediatrics (PPTs), three physiotherapists with experience with adult individuals (n-PPTs), and three students of physiotherapy. Results: The inter-rater reliability both for joints and gait events was acceptable (ICC ≥ .70) for PPTs and n-PPTs, but not for students. Conclusions: The inter-rater reliability of the SF-GT can be influenced by the experience of the raters and the amount of clinical experience seems to be more relevant than the specific professional field. Further research should be conducted with larger samples.     

Expert opinion: use of valproate in girls and women of childbearing potential with epilepsy: recommendations and alternatives based on a review of the literature and clinical experience—a European perspective

Journal of Neurology - Valproate is a broad-spectrum antiepileptic drug (AED) of particular interest in pediatric epilepsy syndromes and idiopathic generalized epilepsy, as it is relatively more...     

Adjunctive lacosamide in clinical practice: sodium blockade with a difference?

Lacosamide (LCM) was licensed in the United Kingdom in 2008 for the adjunctive treatment of partial-onset seizures. It exerts its effect by enhancing sodium channel slow inactivation. This article reports preliminary outcomes with adjunctive LCM in the everyday clinical setting. To date, 113 patients (57 males, 56 females; aged range = 18–74 years, median = 39 years) with uncontrolled partial-onset seizures (monthly frequency range = 1–300, median = 4) have been included in the audit. Patients were taking 1–4 (median = 1) antiepileptic drugs (AEDs), having previously tried 1–12 (median 3) drug schedules. After 12 weeks on stable AED dosing, LCM was added, aiming at an initial target range of 200–400 mg/day. Review took place every 6–8 weeks until one of four endpoints was reached: seizure freedom for ≥ 6 months on a given LCM dose; ≥ 50% (responder) or < 50% (marginal benefit) seizure reduction over 6 months compared with baseline on the highest tolerated LCM dose; withdrawal of LCM because of lack of efficacy, side effects, or both. An endpoint has been reached by 65 (57.5%) patients so far. Seventeen (26.2%) have remained seizure free on a median daily LCM dose of 100 mg (range = 50–300 mg). Patients were more likely to become seizure free when LCM was used as a first add-on (15/36, 41.7%), compared with a later treatment schedule (1/27, 3.7%, P = 0.001). With appropriate dose manipulation, patients taking traditional sodium blockers (5/26, 19.2%) were as likely to become seizure free as those taking AEDs with other mechanisms of action only (11/37, 29.7%). Fifty percent or greater seizure reduction was achieved in an additional 16 (24.6%) patients (1 monotherapy); 18 (27.7%) reported marginal benefit. Two patients were established on LCM monotherapy (one seizure free, one responder). Patients remaining on LCM were as likely to also be taking sodium blockers only (23/27, 85.1%) as AEDs with other mechanisms (26/36, 72.2%). LCM was withdrawn in 14 patients (12.3% of ongoing patients, 21.5% of those at an endpoint; 10 for side effects, 4 for lack of efficacy). The most common side effects leading to withdrawal were sedation, ataxia, and dizziness. Of the 10 with side effects, only 2 patients took concomitant sodium blockers. Patients on sodium valproate were more likely to discontinue LCM (8/21, P = 0.018) than those also taking other AEDs; 5 of the 8 did so because of side effects and 3 because of lack of efficacy. In patients with partial-onset seizures, LCM is an effective and well-tolerated adjunctive AED when combined with appropriate doses of traditional sodium blockers, as well as agents with other mechanisms of action. Seizure freedom was more likely when LCM was used as a first add-on compared with a later treatment schedule. Patients also taking sodium valproate were significantly more likely to discontinue LCM compared with those taking other AEDs. These data suggest that the pharmacological effect of LCM differs importantly from that of AEDs that influence fast inactivation of the sodium channel.     

‘Mechanical restraint—confounders,risk, alliance score’: testing the clinical validity of a new risk assessment instrument

Background: Unstructured risk assessment, as well as confounders (underlying reasons for the patient’s risk behaviour and alliance), risk behaviour, and parameters of alliance, have been identified as factors that prolong the duration of mechanical restraint among forensic mental health inpatients.

Aim: To clinically validate a new, structured short-term risk assessment instrument called the Mechanical Restraint–Confounders, Risk, Alliance Score (MR-CRAS), with the intended purpose of supporting the clinicians' observation and assessment of the patient’s readiness to be released from mechanical restraint.

Methods: The content and layout of MR-CRAS and its user manual were evaluated using face validation by forensic mental health clinicians, content validation by an expert panel, and pilot testing within two, closed forensic mental health inpatient units.

Results: The three sub-scales (Confounders, Risk, and a parameter of Alliance) showed excellent content validity. The clinical validations also showed that MR-CRAS was perceived and experienced as a comprehensible, relevant, comprehensive, and useable risk assessment instrument.

Conclusions: MR-CRAS contains 18 clinically valid items, and the instrument can be used to support the clinical decision-making regarding the possibility of releasing the patient from mechanical restraint.

Implications: The present three studies have clinically validated a short MR-CRAS scale that is currently being psychometrically tested in a larger study.     

Diagnosing autism in a clinical sample of adults with intellectual disabilities: How useful are the ADOS and the ADI-R?

Intellectual disability (ID) and autism spectrum disorder (ASD) are frequently co-occurring conditions. Carefully diagnosing ASD in individuals with ID would allow for more tailored clinical interventions that would improve mental health and quality of life. In this study, we evaluated the psychometric properties of the Autism Diagnostic Observation Schedule (ADOS) and the Autism Diagnostic Interview-Revised (ADI-R) in a clinical sample of 79 adults with ID who were suspected of also having ASD. In the testable cases (68%), the ADOS was over-inclusive (specificity 45%) but highly sensitive (100%) of ASD. In the ADI-R, the feasibility was 37%, with a sensitivity of 88% and a specificity of 80%. Previously proposed adaptations of the ADOS algorithm were evaluated, and new items and tasks were suggested. The ADOS and the ADI-R were found to be valuable diagnostic tools for adults with ID. Adjustments of the setting and the tasks may further improve their feasibility and specificity.     

Patients with obsessive-compulsive disorder and hoarding symptoms: a distinctive clinical subtype?

We investigated whether patients with obsessive-compulsive disorder (OCD) and hoarding symptoms can be differentiated from their counterparts with other types of obsessions and compulsions in terms of sociodemographic and clinical features. Ninety-seven patients with OCD were assessed with a sociodemographic and clinical questionnaire, the Structured Clinical Interview for DSM-IV (SCID-I), the Yale-Brown Obsessive-Compulsive Scale (Y-BOCS), the Beck Depression Inventory (BDI), the Hamilton Rating Scale for Depression (HDRS), and the Global Assessment of Functioning (GAF). Fifteen patients who reported hoarding symptoms in the Y-BOCS checklist (15.6% of the total sample) were compared and contrasted with 82 patients without those symptoms using the Mann-Whitney U test for continuous variables and the Pearson's goodness-of-fit chi-square test for categorical ones; Fisher's exact test was employed when indicated. Hoarders were characterized by (1) higher educational levels (chi(2) = 7.49; df = 2; P =.02); (2) earlier age at onset (Z = -2.99; P =.003); (3) higher rates of symmetry obsessions (chi(2) = 7.03; df = 1; P =.01); (4) greater frequency of ordering (chi(2) = 10.08; df = 1; P =.004); (5) rituals repetition (chi(2) = 4.42; df = 1; P =.03); (6) counting compulsions (chi(2) = 5.92; df = 1; P =.02); and (7) significantly higher rates of comorbidity with bipolar II disorder (chi(2) = 10.62; df = 1; P =.02) and (8) with eating disorders (chi(2) = 7.42; df = 1; P =.02). In conclusion, patients with OCD exhibiting hoarding feature a distinctive sociodemographic and clinical profile. It remains to be investigated whether these phenotypical characteristics are underlined by specific neurobiological mechanisms.     

Meta-analyses: a method to maximise the evidence from clinical studies?

Evidence-based medicine (EBM) is becoming the guiding principle for clinical treatment decisions. But evidence remains a loosely defined term. Multiple criteria for evidence criteria have been proposed. Most influential evidence criteria give priority to meta-analyses because they promise an objective procedure to combine the outcomes of all informative, putatively conflicting studies on the same issue in an overall score. However, we claim that meta-analyses are of limited informative value for the following six reasons: (1) meta-analyses are often “overpowered” with clinically irrelevant results that might emerge as highly significant; (2) there is serious concern of publication biases with “negative” studies not being published; (3) meta-analyses consider the variation in the results of the empirical studies included to be random noise, however, the variability of results across studies can be informative; (4) the result of a meta-analysis depends on the strategy used to identify the included empirical studies; (5) the quality of conclusions from meta-analyses depends on the statistical tests used to combine the results of the separate studies; (6) the qualitative conclusions drawn from the meta-analytical combination of individual studies may depend on specific design aspects of the individual studies. Thus, meta-analyses are primarily a method to generate hypotheses through an a posteriori analysis of treatment effects.     

Fast-channel congenital myasthenic syndrome with a novel acetylcholine receptor mutation at the α–ε subunit interface

Congenital myasthenic syndromes (CMS) result from the failure to achieve muscle depolarisation due to disorders in the structure and/or function of the neuromuscular synapse. Mutations of the nicotinic acetylcholine receptor (nAChR) form a major subset of CMS. We describe a patient who presented with recurrent apnoeic crises in the neonatal period requiring ventilator support. Electromyography revealed compound muscle action potential decrement upon repetitive stimulation. Sequencing of nAChR subunit genes revealed two missense mutations. One previously reported null mutation p.εTyr15His, and a second novel missense mutation, p.εThr38Lys, that is well expressed in mammalian cell culture and thus likely to exert its effect via alteration of ion channel kinetics. Functional analysis revealed abbreviated ion channel bursts characteristic of a fast channel CMS. The mutation p.εThr38Lys occurs at the interface between the α and ε subunits of the nAChR pentamer and leads to instability of the open channel. The effects of this mutation on channel function were investigated in relation to other fast channel mutants at an analogous subunit interface within the nAChR pentamer. Fast channel syndromes are frequently characterised by severe myasthenic weakness with apnoeic crises; knowledge of the underlying mutation and its functional consequences can be vital for appropriate therapy and patient management.