Characterizing Anarthria to Facilitate Neurological Diagnosis: A Case Illustration

Author(s):  
Adithya Chandregowda ◽  
Heather M. Clark

Purpose The purpose of this clinical focus article is to illustrate how speech-language pathologist (SLP) characterization of anarthria can contribute to neurological diagnosis and to highlight the challenges associated with such an endeavor. Method Used in this study are a retrospective chart review and clinicians' experience-based reflections. Results A 65-year-old man, who, in the context of a neurodegenerative disease, presented with near-complete-loss of speech, was referred by neurologists to SLPs for further characterization of his speech difficulty. Assessment of his limited speech output revealed anarthria with mixed features (spastic and hypokinetic) with superimposed apraxia of speech. Conclusions SLP characterization of anarthria to facilitate neurological diagnosis is challenging but possible. Clinical lessons learned from this unusual scenario are discussed.

2021 ◽  
Vol 6 (1) ◽  
Author(s):  
Naji GF ◽  
◽  
Poletto E ◽  
Brown K ◽  
Kubicky RA ◽  
...  

Introduction: Imaging studies help identify structural abnormalities associated with pituitary dysfunction, such as Ectopic Posterior Pituitary (EPP). Aim: To detect the prevalence of IGHD or CPHD in children with EPP, the association between the location of EPP and pituitary dysfunction; and, to determine the prevalence of brain and pituitary abnormalities detected by MRI. Methods: A retrospective chart review of MRI reports at St. Christopher’s Hospital for Children (SCHC) from 2006-2018 that were found to have EPP. Pituitary hormone function was evaluated in the majority. Results: 66 patients, age of (8.31±6.26) included. Of those, 26 patients had EPP. The prevalence rate of documented pituitary dysfunction was higher in patients with EPP (95%). Of the 26 patients with EPP, age (5.98±5.18 yrs) 20 patients had an endocrine evaluation. Of the 20 children, 14 had CPHD and 4 had IGHD. Patients with EPP were classified into 3 groups (upper, middle & lower). Of the 21 patients with upper EPP, 17 (100%) were found to have pituitary dysfunction (14 with CPHD, 3 with IGHD). Of the 4 children with middle EPP, 1 had pituitary dysfunction which was IGHD. Diabetes insipidus was not identified in any of the children. Patients with CPHD had higher prevalence of EPP (73.7%) as compared to those with IGHD (21.1%). Conclusion: Our study supports previous reports that CPHD and IGHD are frequent in patients with EPP. No cases of DI have been reported in children with EPP. No CPHD was reported in middle/lower but IGHD was found in the middle EPP group.


2020 ◽  
Vol 73 (2) ◽  
Author(s):  
Régis Vaillancourt ◽  
Maria Moreno ◽  
Annie Pouliot ◽  
Erick Sell

ABSTRACTBackground: The study of the use of cannabis for therapeutic purposesin the pediatric population is increasing, yet data on efficacy and safety are limited. Characterization of pediatric cannabis use for therapeuticpurposes will improve understanding of the circumstances under which it occurs and the associated outcomes.Objective: To describe the use of cannabis for therapeutic purposes, regardless of authorization, in a pediatric tertiary teaching hospital.Methods: A retrospective chart review was completed for patients 18 years of age or younger who used cannabis for therapeutic purposes, regardless of authorization, between May 1, 2014, and May 1, 2017. Patients whose cannabis use was documented as recreational were excluded.Results: In total, 300 patients were identified, of whom 37 met the inclusion criteria. Of these, 30 patients had documentation of medically supervised cannabis use. Most were using cannabis for seizures (n = 28), and many of these (n = 23) were patients with seizures described as intractable or refractory. Of the 27 patients who were experiencing seizures at initiation of medical cannabis, 21 had documentation of a decrease in seizure frequency. This decrease was transient for 16 patients, with a mean duration of 130.4 days (standard deviation 99.1 days). Seven patientsself-medicated with cannabis. They obtained cannabis without author-ization and used it for chronic pain (n = 5) and/or anxiety (n = 5).Conclusions: Medically supervised cannabis use occurred most often in patients with intractable or refractory seizures. According to these data, seizure response is variable, and initial decreases may be transient forpediatric patients using cannabis. To ensure greater consistency and rigour in the conduct of prospective research and thus to generate better-quality research on the therapeutic effects of medical cannabis, development of a standardized care record is needed. RÉSUMÉContexte : Les études portant sur l’utilisation du cannabis à des fins thérapeutiques par les enfants augmentent, mais les données concernant l’efficacité et la sécurité de cette drogue sont limitées. La caractérisationde l’usage du cannabis à des fins thérapeutiques permettra de mieux comprendre les circonstances de l’utilisation de cette drogue ainsi que les effets qui lui sont associés.Objectif : Décrire l’utilisation du cannabis à des fins thérapeutiques, qu’elle soit autorisée ou non, dans un hôpital d’enseignement de soins pédiatriques tertiaires.Méthodes : Un examen rétrospectif des dossiers a été mené auprès de patients d’âge égal ou inférieur à 18 ans, qui ont fait un usage autorisé ou non de cannabis à des fins thérapeutiques entre le 1er mai 2014 et le 1er mai 2017. Les patients qui utilisaient du cannabis à des fins récréatives ont été exclus de l’étude.Résultats : Au total 300 patients ont été identifiés et 37 d’entre eux répondaient au critère d’inclusion. La prise de cannabis sous supervision médicale de 30 d’entre eux était documentée. La plupart utilisaient lecannabis en cas de crise (n = 28) et bon nombre d’entre eux (n = 23) étaient des patients dont les crises étaient décrites comme insolubles ou réfractaires. Des 27 patients qui avaient des crises au début de la prise de cannabis médical, 21 ont enregistré une diminution de la fréquence des crises. Seize patients ont obtenu une diminution éphémère, qui a duré en moyenne 130,4 jours (écart type : 99,1 jours). Sept patients se soignaienteux-mêmes à l’aide de cannabis. Ils obtenaient du cannabis sans autorisation et l’utilisaient pour soulager des douleurs chroniques (n = 5) ou leur anxiété (n = 5).Conclusions : Les patients qui subissaient des crises incurables ou réfractaires utilisaient le plus souvent du cannabis sous supervision médicale. Selon ces données, la réponse aux crises est variable et les baisses initiales du nombre de crises pourraient être éphémères chez les enfants utilisant du cannabis. Il convient de préparer un dossier de soins normalize pour mener des recherches prospectives plus cohérentes et rigoureuses et donc générer des recherches de meilleure qualité sur les effets thérapeutiques du cannabis médical.


2019 ◽  
Vol 32 (11) ◽  
pp. 1241-1245 ◽  
Author(s):  
Manish Raisingani ◽  
Preneet Cheema Brar

Abstract Background Prolonged neonatal hyperinsulinism (PHI) causes hypoglycemia in the neonatal period and is associated with perinatal stress. Even though diazoxide is an effective treatment option for PHI, it has serious adverse effects making an argument for safe yet expeditious wean off of diazoxide while ensuring normoglycemia. The objective of this study was to characterize clinical course, dose requirement and duration of treatment with diazoxide in our cohort of infants diagnosed with PHI. Methods A retrospective chart review of infants diagnosed with PHI during a 6-year period was done documenting the diagnostic workup and the duration of treatment with diazoxide. Results PHI was diagnosed (n = 20; mean ± standard deviation [SD]) at 14.3 ± 22.4 days. Elevated insulin (8.3 ± 8.4 mIU/L), normal cortisol (15.5 ± 6.6 μg/dL [6–21]), normal growth hormone (18.8 ± 15.7 ng/mL [0.1–6.2]) and inappropriate low serum free fatty acids (0.3 ± 0.2 mmol/L [>1.5]) levels were measured during hypoglycemia (plasma glucose <50 mg/dL). Detectable insulin at the time of hypoglycemia was measured in 17 of 20 infants while the same number (17/20) of infants had a positive glucagon stimulation test (GST). The dose of diazoxide was 10 ± 3.7 mg/kg/day and duration of treatment was 44.9 ± 27.9 days. Conclusions This study illustrates that the duration of treatment with diazoxide in infants with PHI can be shorter than previously reported in the literature. We speculate that active tapering of diazoxide started within a week after discharge from hospital as well an outpatient tapering of diazoxide based on glucose monitoring were possible reasons for this outcome.


2021 ◽  
Vol 26 (1) ◽  
pp. 26-32
Author(s):  
Stephanie Duehlmeyer ◽  
Christopher Klockau ◽  
Diana Yu ◽  
Jamie Rouch

OBJECTIVES To characterize the voriconazole and posaconazole serum trough ordering practices in patients receiving prophylactic and treatment antifungal therapy. METHODS A retrospective chart review over a 6-year period of pediatric patients who received voriconazole and/or posaconazole for &gt;24 hours. RESULTS A total of 113 patients were included in this study and of these patients, 105 received voriconazole and 16 received posaconazole during the study period. Additionally, 167 trough levels were assessed in this study. Only 50% and 54% of levels were considered within goal recommendations for voriconazole and posaconazole, respectively. The median dose required to achieve goal trough concentration was dependent on drug, indication, and dosage form. Lastly, the most common adverse drug reactions (ADRs) were hepatoxicity, QTc prolongation, and CNS changes, which were in concordance with ADRs documented in the clinical trials for voriconazole and posaconazole. Approximately 20% of patients receiving either voriconazole or posaconazole died during the study period and the median trough in both groups was subtherapeutic. CONCLUSIONS Increased monitoring of trough concentrations may be warranted to prevent death or breakthrough invasive fungal infections. Further studies are warranted for assessing the relationship between trough concentrations and treatment outcomes as well as relationship between dosing and achieving goal trough concentrations.


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