SEZ6L2 Antibody–Associated Cerebellar Ataxia Responsive to Sequential Immunotherapy

ObjectivesSeizure-related 6 homolog like 2 (SEZ6L2) antibody–associated ataxia is an extremely rare disease. Six patients have been reported and none of them improved significantly with immunotherapy. Herein, we present the case of a patient with cerebellar ataxia and SEZ6L2 antibodies who benefited from immunotherapy, which dramatically altered the course of her disease.MethodsWe present a case report of a 73-year-old woman with progressive balance problems. Her condition had rapidly deteriorated in the 2 weeks before the admission to our hospital leading to repeated falls and eventually left her bed-ridden.ResultsShe presented with severe trunk ataxia, bidirectional nystagmus, dysarthric speech, and persistent nausea. With the exception of cerebellar atrophy, extensive imaging studies revealed no pathology. SEZ6L2 antibodies were found in both CSF and serum. Over a period of 9 months, our patient received immunotherapy consisting of steroid pulse therapy, IV immunoglobulin infusions, rituximab, and cyclophosphamide. Consequently, her condition improved markedly, and she was discharged home from the neurologic rehabilitation unit.DiscussionOur case report shows that intense sequential immunotherapy may considerably improve level of functioning in some patients with SEZ6L2 antibody–associated cerebellar ataxia.Classification of EvidenceThis provides Class IV evidence. It is a single observational study without controls.

Consonantal Landmarks as Predictors of Dysarthria among English-Speaking Adults with Cerebral Palsy

The current study explored the possibility that the consonantal landmarks served as predictors of dysarthric speech produced by English-speaking adults with cerebral palsy (CP). Additionally, the relationship between the perceptual severity of dysarthric speech and the consonantal landmarks was explored. The analyses included 210 sentences from the TORGO database produced by seven English-speaking CP speakers with dysarthria and seven typically developing controls matched in age and gender. The results indicated that the clinical group produced more total landmark features than did the control group. A binominal regression analysis revealed that the improper control of laryngeal vibration and the inability to tactically control the energy in a voiced segment would lead to the higher likelihood of dysarthric speech. A multinominal regression analysis revealed that producing too many +v and −v landmark features would lead to higher perceptual severity levels among the CP speakers. Together with literature, the current study proposed that the landmark-based acoustic analysis could quantify the differences in consonantal productions between dysarthric and non-dysarthric speech and reflect the underlying speech motor deficits of the population in concern.

“You Say Severe, I Say Mild”: Toward an Empirical Classification of Dysarthria Severity

Purpose: The main purpose of this study was to create an empirical classification system for speech severity in patients with dysarthria secondary to amyotrophic lateral sclerosis (ALS) by exploring the reliability and validity of speech-language pathologists' (SLPs') ratings of dysarthric speech. Method: Ten SLPs listened to speech samples from 52 speakers with ALS and 20 healthy control speakers. SLPs were asked to rate the speech severity of the speakers using five response options: normal, mild, moderate, severe, and profound. Four severity-surrogate measures were also calculated: SLPs transcribed the speech samples for the calculation of speech intelligibility and rated the effort it took to understand the speakers on a visual analog scale. In addition, speaking rate and intelligible speaking rate were calculated for each speaker. Intrarater and interrater reliability were calculated for each measure. We explored the validity of clinician-based severity ratings by comparing them to the severity-surrogate measures. Receiver operating characteristic (ROC) curves were conducted to create optimal cutoff points for defining dysarthria severity categories. Results: Intrarater and interrater reliability for the clinician-based severity ratings were excellent and were comparable to reliability for the severity-surrogate measures explored. Clinician severity ratings were strongly associated with all severity-surrogate measures, suggesting strong construct validity. We also provided a range of values for each severity-surrogate measure within each severity category based on the cutoff points obtained from the ROC analyses. Conclusions: Clinician severity ratings of dysarthric speech are reliable and valid. We discuss the underlying challenges that arise when selecting a stratification measure and offer recommendations for a classification scheme when stratifying patients and research participants into speech severity categories.