A clinical bulbar assessment scale (CBAS) for amyotrophic lateral sclerosis.

INTRODUCTION/AIMS: Comprehensive and valid bulbar assessment scales for use within amyotrophic lateral sclerosis (ALS) clinics are critically needed. The aims of this study are to develop the Clinical Bulbar Assessment Scale (CBAS) and complete preliminary validation. METHODS: The authors selected CBAS items from among the literature and expert opinion, and content validity ratio (CVR) was calculated. Following consent, the CBAS was administered to a pilot sample of English-speaking adults with El Escorial defined ALS (N = 54) from a multidisciplinary clinic, characterizing speech, swallowing, and extrabulbar features. Criterion validity was assessed by correlating CBAS scores with commonly used ALS scales, and internal consistency reliability was obtained. RESULTS: Expert raters reported strong agreement for the CBAS items (CVR = 1.00; 100% agreement). CBAS scores yielded a moderate, significant, negative correlation with ALS Functional Rating Scale-Revised (ALSFRS-R) total scores (r = -0.652, p < .001), and a strong, significant, negative correlation with ALSFRS-R bulbar subscale scores (r = -0.795, p < .001). There was a strong, significant, positive correlation with Center for Neurologic Studies Bulbar Function Scale (CNS-BFS) scores (r = 0.819, p < .001). CBAS scores were significantly higher for bulbar onset (mean = 38.9% of total possible points, SD = 22.6) than spinal onset (mean = 18.7%, SD = 15.8; p = .004). Internal consistency reliability (Cronbach's alpha) values were: (a) total CBAS, α = 0.889; (b) Speech subscale, α = 0.903; and (c) Swallowing subscale, α = 0.801. DISCUSSION: The CBAS represents a novel means of standardized bulbar data collection using measures of speech, swallowing, respiratory, and cognitive-linguistic skills. Preliminary evidence suggests the CBAS is a valid, reliable scale for clinical assessment of bulbar dysfunction.

Communication skills among children with spinal muscular atrophy type 1: A parent survey.

Spinal muscular atrophy is one of the most common fatal autosomal recessive disorders. Children diagnosed with SMA Type 1 (SMAT1) demonstrate severe oral motor weakness and flaccid dysarthria progressing to complete anarthria. A review of literature illustrates that little has been described regarding augmentative and alternative communication (AAC) use among these children, although communication has a critical impact on quality of life and participation in daily activities. Responses to an investigator-developed parent survey were obtained to appraise communication skills and opportunities among children diagnosed with SMA1. Results illustrate parent perception of greater receptive than expressive language ability and highlight the benefits of implementing speech-generating devices (SGD). Barriers to SGD acquisition and implementation, including access and funding, are reported and described. Overall, families indicated that SGD increases quality of life and provides valued improvements through expanded functional communication.

A multi-disciplinary clinic for SCN8A-related epilepsy.

OBJECTIVE: We endeavored to evaluate a cohort of patients diagnosed with SCN8A-related epilepsy in a multi-disciplinary clinic and to create a bio-repository. METHODS: We recruited patients with epilepsy due to SCN8A variants at Children's National Medical Center, through family organizations, or SCN8A.net. Study procedures included medical record review, review of EEG and MRI data, clinical evaluation, the Vineland Adaptive Behavior Scales, Third Edition (VABS-3), DNA extraction, and preparation of peripheral blood mononuclear cells. RESULTS: Seventeen patients (9 months - 19 years) completed the study. Age at seizure onset was 1 day to 4 years old (median age 4 months). Epilepsy phenotype ranged from mild epilepsy to severe developmental and epileptic encephalopathy. Medications targeting the voltage-gated sodium channel were most often effective, while levetiracetam resulted in worsening seizures and/or developmental regression in 7/16 (p < 0.05). VABS-3 scores were below age expectations for most children; older children had lower scores. Neurological examination revealed hypotonia (13), spastic quadriparesis (1), ataxia (9), dyskinesia (2)/ dystonia (7), and four non-ambulatory. CONCLUSIONS: This is the first report of a large series of patients with epilepsy due to SCN8A variants evaluated in a single multi-disciplinary clinic. By utilizing a more comprehensive and consistent evaluation, we clarify specific seizure and epilepsy types, describe a distinct epilepsy phenotype in a patient with a nonsense variant, delineate patterns of developmental delay, language, and swallow function (specifically anomic aphasia and flaccid dysarthria), identify and characterize movement disorders, report common findings on physical exam, and demonstrate clinical worsening with levetiracetam.

Sharing of Injection Drug Preparation Equipment Is Associated With HIV Infection: A Cross-sectional Study.

BACKGROUND: Sharing needles/syringes and sexual transmission are widely appreciated as means of HIV transmission among persons who inject drugs (PWIDs). London, Canada, is experiencing an outbreak of HIV among PWIDs, despite a large needle/syringe distribution program and low rates of needle/syringe sharing. OBJECTIVE: To determine whether sharing of injection drug preparation equipment (IDPE) is associated with HIV infection. METHODS: Between August 2016 and June 2017, individuals with a history of injection drug use and residence in London were recruited to complete a comprehensive questionnaire and HIV testing. RESULTS: A total of 127 participants were recruited; 8 were excluded because of failure to complete HIV testing. The remaining 35 HIV-infected (cases) and 84 HIV-uninfected (controls) participants were assessed. Regression analysis found that sharing IDPE, without sharing needles/syringes, was strongly associated with HIV infection (adjusted odds ratio: 22.1, 95% confidence interval: 4.51 to 108.6, P < 0.001). CONCLUSIONS: Sharing of IDPE is a risk factor for HIV infection among PWIDs, even in the absence of needle/syringe sharing. Harm reduction interventions to reduce HIV transmission associated with this practice are urgently needed.

Heating Injection Drug Preparation Equipment Used for Opioid Injection May Reduce HIV Transmission Associated With Sharing Equipment.

BACKGROUND: London, Canada, experienced an HIV outbreak among persons who inject drugs despite widespread distribution of harm reduction equipment. Hydromorphone controlled-release (HMC) is the local opioid of choice. Injection drug preparation equipment (IDPE; ie, cookers and filters) is often shared and reused because of the perception that there is residual HMC in the IDPE after use. The purpose of this study was to investigate the mechanisms of HIV transmission in this context. METHODS: Residual hydromorphone, (controlled-release or immediate-release), remaining in the IDPE, was measured with liquid chromatography-tandem mass spectrometry, in conditions replicating persons who inject drug use. HIV was added to IDPE in the presence HMC, hydromorphone immediate-release, or microcrystalline cellulose (an HMC drug excipient). HIV viral persistence was measured by reverse transcriptase activity and infectivity of indicator Tzm-bl cells. RESULTS: Forty-five percent of HMC remained in the IDPE after the first aspiration of solution, with no change after heating. HIV persistence and infectivity were preserved in the presence of HMC, and less so with microcrystalline cellulose. Heating the IDPE rapidly inactivated HIV. CONCLUSIONS: Sharing of IDPE is a potential means of HIV transmission. HMC encourages IDPE sharing because of the residual drug in the IDPE, and the HMC excipients preserve HIV viability. Heating IDPE before aspiration of the opioid may be a harm reduction strategy.

Validation of an Algorithm to Identify Infective Endocarditis in People Who Inject Drugs.

INTRODUCTION: Infective endocarditis is associated with high morbidity and mortality. Currently, there is concern that the incidence of infective endocarditis associated with people who inject drugs (PWID) is increasing. However, it is difficult to monitor population-wide trends in PWID-associated infective endocarditis, as there is no International Statistical Classification of Diseases, 10th Revision (ICD-10) code for injection drug use. To address this barrier, we sought to develop a validated algorithm using ICD-10 discharge diagnosis codes. MATERIALS AND METHODS: We constructed a cohort of patients whose hospital discharge diagnosis included infective endocarditis. We reviewed 100 patients with incident infective endocarditis from 2014 to 2016 for their infective endocarditis and injection drug use status. We calculated the operating characteristics for algorithms constructed using permutations of ICD-10 codes associated with injection drug use. We repeated this analysis in a cohort of 100 patients with incident infective endocarditis from 2009 to 2011 to examine the temporal stability of the operating characteristics of each algorithm. RESULTS: We found that a combination of hepatitis C virus, drug use, and mental/behavioral disorder codes yielded the highest sensitivity (93%) and positive predictive value (83%) of the algorithms analyzed. DISCUSSION: We have described the first algorithm, validated against chart review data, for identifying PWID-associated infective endocarditis cases using ICD-10 codes. The high sensitivity and positive predictive value indicate that this algorithm can be used for surveillance and research with confidence. CONCLUSIONS: This algorithm will enable researchers to examine epidemiological trends in PWID-associated infective endocarditis.

Augmentative and alternative communication for people with progressive neuromuscular disease.

Individuals with progressive neuromuscular disease often experience complex communication needs and consequently find that interaction using their natural speech may not sufficiently meet their daily needs. Increasingly, assistive technology advances provide accommodations for and/or access to communication. Assistive technology related to communication is referred to as augmentative and alternative communication (AAC). The nature of communication challenges in progressive neuromuscular diseases can be as varied as the AAC options currently available. AAC systems continue to be designed and implemented to provide targeted assistance based on an individual's changing needs.

Kinematics of disease progression in bulbar ALS.

UNLABELLED: The goal of this study was to investigate the deterioration of lip and jaw movements during speech longitudinally in three individuals diagnosed with bulbar amyotrophic lateral sclerosis (ALS). The study was motivated by the need to understand the relationship between physiologic changes in speech movements and clinical measures of speech performance such as speaking rate and speech intelligibility. Movements of the lip and jaw were quantified with respect to their size speed, and duration. The data revealed several changes in lip and jaw movement that coincided with ALS progression. In two out of three speakers, the changes in measures of path distance and speed anticipated the drop in speech intelligibility by approximately 3 months. With disease progression, increases in movement duration coincided with declines in speech intelligibility. Overall, the movement measures appeared to be sensitive to disease progression in ALS. LEARNING OUTCOMES: By the end of the manuscript, the reader should be able to: (1) describe the changes that occur in articulatory movements of the jaw and lower lip in ALS; (2) understand the relationship between physiologic measures of movement and speech intelligibility and speaking rate; (3) identify critical points in the disease progression and understand which quantitative measures reveal the state of the bulbar system at these time points.

An AAC personnel framework: adults with acquired complex communication needs.

A personnel framework designed to support people who rely on augmentative and alternative communication (AAC) because of acquired medical conditions and those who assist them is described. The roles of AAC finders, general practice clinicians, AAC intervention specialists, AAC facilitators, and AAC experts are summarized. These roles are described in detail for people with amyotrophic lateral sclerosis, brainstem impairment, and severe chronic aphasia. The personnel preparation needs for each of these support personnel groups are identified.

Speech-language characteristics of children with Sotos syndrome.

The purpose of this research study was to evaluate the communication of individuals with Sotos syndrome in order to better characterize common speech and language patterns. Sixteen children with Sotos syndrome received an in-depth communication assessment using standardized procedures. Assessments of speech skills, language skills, voice, fluency, and social-pragmatic interactions were completed. Results of the evaluations indicated that individuals with Sotos syndrome are prone to: (a) language impairments (particularly expressive), (b) speech sound production impairments, (c) voice impairments, (d) dysfluencies (stuttering), and (e) average social-behavioral pragmatic interaction characteristics.

Communication effectiveness of individuals with amyotrophic lateral sclerosis.

UNLABELLED: The purpose of this study was to examine the relationships among speech intelligibility and communication effectiveness as rated by speakers and their listeners. Participants completed procedures to measure (a) speech intelligibility, (b) self-perceptions of communication effectiveness, and (c) listener (spouse or family member) perceptions of communication effectiveness for speakers with amyotrophic lateral sclerosis (ALS). The results of this study revealed that perceptions of communication effectiveness for speakers with ALS were quite similar for the speakers and their frequent listeners across 10 different social situations. ALS speakers and their listeners reported a range of communication effectiveness depending upon the adversity of specific social situations. LEARNING OUTCOMES: (1) As a result of this activity, the participant will be able to identify social contexts that are identified by persons with ALS as difficult for effective communication. (2) As a result of this activity, the participant will be able to describe ALS symptomatology using the International Classification of Functioning, Disability, and Health. (3) As a result of this activity, the participant will be able to administer the CETI-M as a measure of communication effectiveness for persons with ALS. (4) As a result of this activity, the participant will gain information that will assist them in counseling persons with ALS and their families.

Algorithmic Estimation of Pauses in Extended Speech Samples of Dysarthric and Typical Speech.

The aim of this study was to evaluate the validity and performance of an algorithm designed to automatically extract pauses and speech timing information from connected speech samples. Speech samples were obtained from 10 people with amyotrophic lateral sclerosis (ALS) and 10 control speakers. Pauses were identified manually and algorithmically from digitally recorded recitations of a speech passage that was developed to improve the precision of pause boundary detection.The manual and algorithmic methods did not yield significantly different results. A stepwise analysis of three different pause detection parameters revealed that estimates of percent pause time were highly dependent on the values specified for the minimum acceptable pause duration and the minimum signal amplitude. Consistent with previous reports of dysarthric speech, pauses were significantly longer and more variable in speakers with ALS than in the control speakers. These results suggest that the algorithm provided an efficient and valid method for extracting pause and speech timing information from the optimally structured speech sample.

Improving AAC use for persons with acquired neurogenic disorders: understanding human and engineering factors.

The first section of this report focuses on those factors that influence augmentative and alternative communication (AAC) use by adults with acquired disability, including the natural course of the acquired neurogenic condition, use of multiple modes of communication, changing capabilities, communication patterns of adults, changing social roles, transitioning among environments, attitudes of AAC users and others, and instructional constraints. The second section provides recommendations about future technical and intervention innovations involving message management, alternative access strategies, and learning demands.