spasmodic dysphonia

痉挛性发声障碍
  • 文章类型: Letter
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  • 文章类型: Journal Article
    喉肌张力障碍是喉部肌肉的任务特异性局灶性肌张力障碍,会损害言语和声音的产生。目前,LD没有治愈方法。LD患者最常见的治疗选择包括肉毒杆菌神经毒素注射。
    提供经验证据,证明语音盒上方皮肤的非侵入性振动触觉刺激(VTS)可以为受LD影响的人提供症状缓解。
    单组11周随机对照试验,在两个4周的块中在家中自我给药两次剂量(每周20分钟一次或3次)之间进行交叉。在第1、6和11周在实验室中评估VTS对语音和言语的急性影响。参与者随机接受40Hz或100HzVTS。
    主要:语音信号的平滑倒谱峰突出度(CPPS),以量化语音和语音异常,和感知的语音努力(PSE)被参与者排名作为语音努力的衡量标准(量表1-10)。次要:连续讲话期间的语音中断次数,语音共识听觉感知评估(CAPE-V)清单作为总体疾病严重程度的量度和语音障碍指数30项自我报告。
    39名确诊为内收肌型LD的患者(平均[SD]年龄,60.3[11.3]年;18名女性和21名男性)完成了研究。VTS的单一应用改善了语音质量(CPPS中位数增加:0.41dB,95%CI[0.20,0.61])和/或在三次研究访问中,多达57%的参与者中,语音努力(PSE)减少了至少30%。效果从不到30分钟持续到几天。在11周的研究期间,没有剂量影响,也没有证据表明VTS的急性治疗效果纵向增加或减少。100和40HzVTS均可引起语音质量和语音工作量的可测量改善。VTS对接受肉毒杆菌毒素的那些人诱导了额外的益处。参与者,未接受肉毒杆菌治疗也对VTS有反应。
    这项研究提供了第一个系统的经验证据,证明长时间使用喉部VTS可以引起声音质量的可重复的急性改善和LD中声音努力的减少。
    ClinicalTrials.govID:NCT03746509。
    UNASSIGNED: Laryngeal dystonia is a task-specific focal dystonia of laryngeal muscles that impairs speech and voice production. At present, there is no cure for LD. The most common therapeutic option for patients with LD involves Botulinum neurotoxin injections.
    UNASSIGNED: Provide empirical evidence that non-invasive vibro-tactile stimulation (VTS) of the skin over the voice box can provide symptom relief to those affected by LD.
    UNASSIGNED: Single-group 11-week randomized controlled trial with a crossover between two dosages (20 min of VTS once or 3 times per week) self-administered in-home in two 4-week blocks. Acute effects of VTS on voice and speech were assessed in-lab at weeks 1, 6 and 11. Participants were randomized to receive either 40 Hz or 100 Hz VTS.
    UNASSIGNED: Primary: smoothed cepstral peak prominence (CPPS) of the voice signal to quantify voice and speech abnormalities, and perceived speech effort (PSE) ranked by participants as a measure of voice effort (scale 1-10). Secondary: number of voice breaks during continuous speech, the Consensus Auditory-Perceptual Evaluation of Voice (CAPE-V) inventory as a measure of overall disease severity and the Voice Handicap Index 30-item self report.
    UNASSIGNED: Thirty-nine people with a confirmed diagnosis of adductor-type LD (mean [SD] age, 60.3 [11.3] years; 18 women and 21 men) completed the study. A single application of VTS improved voice quality (median CPPS increase: 0.41 dB, 95% CI [0.20, 0.61]) and/or reduced voice effort (PSE) by at least 30% in up to 57% of participants across the three study visits. Effects lasted from less than 30 min to several days. There was no effect of dosage and no evidence that the acute therapeutic effects of VTS increased or decreased longitudinally over the 11-week study period. Both 100 and 40 Hz VTS induced measurable improvements in voice quality and speech effort. VTS induced an additional benefit to those receiving Botulinum toxin. Participants, not receiving Botulinum treatment also responded to VTS.
    UNASSIGNED: This study provides the first systematic empirical evidence that the prolonged use of laryngeal VTS can induce repeatable acute improvements in voice quality and reductions of voice effort in LD.
    UNASSIGNED: ClinicalTrials.gov ID: NCT03746509.
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  • 文章类型: Journal Article
    背景:先前的研究表明,在某些类型的肌张力障碍中,女性个体数量超过男性个体。很少有研究解决影响这些性别差异的因素或其潜在的生物学机制。
    目的:评估肌张力障碍性别差异的潜在因素,并探索这些差异的潜在机制。
    方法:分析了各种类型的肌张力障碍患者的数据与性别的关系。数据来自两个不同的来源。一个来源是肌张力障碍联盟数据库,主要包括特发性成人发作的局灶性和节段性肌张力障碍。第二个来源是MDSGene数据库,主要包含早发性单基因肌张力障碍。
    结果:来自肌张力障碍联盟的3222名个体包括71%的女性参与者和29%的男性参与者,总体男女比例(F:M)为2.4。该比率根据受影响的身体区域以及肌张力障碍是否特定于任务而变化。女性的优势取决于年龄。性别对共存的震颤没有显著影响,手势对抗,抑郁或焦虑。在MDSGene数据库的1377个人中,女性参与者在某些基因上超过男性参与者(GNAL,GCH1和ANO3),但不适用于其他基因(THAP1,TH,和TOR1A)。
    结论:这些结果与先前的研究一致,这些研究表明,成年特发性和早发性单基因肌张力障碍的女性个体数量超过男性个体。这些结果通过揭示性别比例取决于肌张力障碍的类型来扩展先前的观察,年龄,和潜在的遗传学。
    BACKGROUND: Prior studies have indicated that female individuals outnumber male individuals for certain types of dystonia. Few studies have addressed factors impacting these sex differences or their potential biological mechanisms.
    OBJECTIVE: To evaluate factors underlying sex differences in the dystonias and explore potential mechanisms for these differences.
    METHODS: Data from individuals with various types of dystonia were analyzed in relation to sex. Data came from two different sources. One source was the Dystonia Coalition database, which contains predominantly idiopathic adult-onset focal and segmental dystonias. The second source was the MDSGene database, which contains predominantly early-onset monogenic dystonias.
    RESULTS: The 3222 individuals from the Dystonia Coalition included 71% female participants and 29% male participants for an overall female-to-male ratio (F:M) of 2.4. This ratio varied according to body region affected and whether dystonia was task-specific. The female predominance was age-dependent. Sex did not have a significant impact on co-existing tremor, geste antagoniste, depression or anxiety. In the 1377 individuals from the MDSGene database, female participants outnumbered male participants for some genes (GNAL, GCH1, and ANO3) but not for other genes (THAP1, TH, and TOR1A).
    CONCLUSIONS: These results are in keeping with prior studies that have indicated female individuals outnumber male individuals for both adult-onset idiopathic and early onset monogenic dystonias. These results extend prior observations by revealing that sex ratios depend on the type of dystonia, age, and underlying genetics.
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  • 文章类型: Case Reports
    存在多种外科治疗方法来治疗内收肌痉挛性发声障碍(ADSD),其中选择性内收肌喉返神经神经支配和神经支配(SLAD-R)是最受欢迎的方法之一。我们介绍了SLAD-R的双侧声带麻痹(BVFP)病例,导致需要全喉切除术。我们建议BVFP比报道的更常见,我们都必须确保对手术患者进行最佳的长期随访。喉镜,2024.
    A variety of surgical treatment options exist for adductor spasmodic dysphonia (ADSD) with selective adductor recurrent laryngeal nerve denervation and reinnervation (SLAD-R) being one of the more popular. We present a case of bilateral vocal fold paralysis (BVFP) for SLAD-R resulting in the need for total laryngectomy. We suggest BVFP is more common than reported and that we all must insure optimal long term follow up of our surgical patients. Laryngoscope, 2024.
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  • 文章类型: Journal Article
    目的:喉肌张力障碍(LD)是一种影响喉肌肉组织的局灶性肌张力障碍,病因或治愈方法未知。本研究评估了诊断为LD的患者的社会人口统计学和临床特征。
    方法:所有在我们大学医院耳部诊断为LD的患者,鼻子,回顾性分析2017年1月至2023年7月喉部.该研究包括43名患者。
    结果:在43名患者中,19(44%)为男性。在诊断的时候,患者的平均年龄为35.1岁(17~65岁).从首次症状发作到首次诊断之间的平均经过时间为49.2个月(min。4个月,max.240个月)。在参与者中,94%具有内收肌型LD。所有患者均无LD家族史。在患者中,9(20%)在症状发作之前经历了改变生活的事件或创伤。所有饮酒的患者均报告饮酒后症状缓解。总共67.6%的患者表示他们的症状是由压力引发的。我们所有的病人都接受了至少一次肉毒毒素注射,每个患者平均2.75剂量。
    结论:男女性别分布大致公平。出现症状后,男性倾向于比女性更早接受诊断。大量患者将其症状的出现与压力事件或创伤经历相关联。这项研究代表了对土耳其人口中患者的社会人口统计学特征的初步调查。
    OBJECTIVE: Laryngeal dystonia (LD) is a focal dystonia affecting laryngeal musculature with no known etiology or cure. The present study evaluated the sociodemographic and clinical features of patients diagnosed with LD.
    METHODS: All patients diagnosed with LD at our University Hospital\'s Ear, Nose, and Throat Department between January 2017 and July 2023 were retrospectively analyzed. The study included 43 patients.
    RESULTS: Out of the 43 patients, 19 (44%) were male. At the time of diagnosis, the mean age of the patients was 35.1 years (ranging from 17 to 65 years). The mean elapsed time between the first symptom onset and the first diagnosis was 49.2 months (min. 4 months, max. 240 months). Of the participants, 94% had adductor-type LD. None of the patients had a family history of LD. Of the patients, 9 (20%) experienced a life-altering event or trauma just before the onset of symptoms. All patients who consumed alcohol reported symptom relief with alcohol intake. A total of 67.6% of patients stated that their symptoms were triggered by stress. All of our patients received at least one Botulinum toxin injection, with an average of 2.75 dosages per patient.
    CONCLUSIONS: The gender distribution was approximately equitable between males and females. There was a tendency for men to receive a diagnosis earlier than women following the manifestation of symptoms. A significant number of patients associate the emergence of their symptoms with a stressful event or traumatic experience. This study represents the initial investigation into the sociodemographic characteristics of patients within the Turkish population.
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  • 文章类型: Journal Article
    一种叫做张力障碍的神经系统疾病会导致异常,由于零星的或持续的肌肉痉挛而无法控制的姿势或运动。几个品种的肌张力障碍可以影响所有年龄段的人,导致严重损害和生活水平下降。导致单一或混合性肌张力障碍变异的基因的发现提高了我们对疾病病因的理解。遗传性肌张力障碍与几个基因有关,包括VPS16、TOR1A、THAP1,GNAL,ANO3肌张力障碍的诊断主要基于临床症状,由于症状与其他神经系统疾病重叠,这可能是具有挑战性的,比如帕金森病。这篇综述旨在总结局灶性肌张力障碍的遗传起源和管理的最新进展。
    A neurological condition called dystonia results in abnormal, uncontrollable postures or movements because of sporadic or continuous muscular spasms. Several varieties of dystonia can impact people of all ages, leading to severe impairment and a decreased standard of living. The discovery of genes causing variations of single or mixed dystonia has improved our understanding of the disease\'s etiology. Genetic dystonias are linked to several genes, including pathogenic variations of VPS16, TOR1A, THAP1, GNAL, and ANO3. Diagnosis of dystonia is primarily based on clinical symptoms, which can be challenging due to overlapping symptoms with other neurological conditions, such as Parkinson\'s disease. This review aims to summarize recent advances in the genetic origins and management of focal dystonia.
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  • 文章类型: Journal Article
    目的:本研究旨在评估内收肌痉挛性发声障碍伴声带震颤患者(AdSD(+)VT)和无声带震颤患者(AdSD(-)VT)的人口统计学差异,并分析其对肉毒杆菌神经毒素(BoNT-A)治疗的反应。
    方法:回顾性队列研究。
    方法:对1989年至2018年在亚利桑那州梅奥诊所接受BoNT治疗的所有痉挛性发声障碍患者进行了数据库回顾。仅包括接受≥4次BoNT-A注射治疗AdSD的患者。患者分为两组:伴有声带震颤的患者(AdSD()VT)和无声带震颤的患者(AdSD(-)VT)。
    结果:最终分析包括398名患者,210例AdSD(+)VT患者(53%)和188例AdSD(-)VT患者(47%)。队列之间的随访时间和中位治疗次数相似。AdSD(+)VT患者更可能是女性(P<0.001),和年龄在发病(P<0.001)和第一次注射(P<0.001)。AdSD(+)VT队列的平均最大获益显著较低(P<0.01),然而,平均获益时间相似(P=0.70).
    结论:AdSD(+)VT和AdSD(-)VT患者之间存在人口统计学差异。AdSD(+)VT患者从BoNT-A治疗中获益;然而,我们的分析表明,他们的最大获益程度低于没有VT的患者.
    OBJECTIVE: This study aims to evaluate the demographic differences between those with adductor spasmodic dysphonia with vocal tremor (AdSD(+)VT) and those without vocal tremor (AdSD(-)VT) and to analyze their response to treatment with botulinum neurotoxin (BoNT-A).
    METHODS: Retrospective cohort study.
    METHODS: A database review of all spasmodic dysphonia patients treated with BoNT from 1989 to 2018 at the Mayo Clinic in Arizona was performed. Only patients who had received ≥4 injections of BoNT-A for AdSD were included. Patients were divided into two cohorts: those with coexistent vocal tremor (AdSD(+)VT) and those without vocal tremor (AdSD(-)VT).
    RESULTS: The final analysis included 398 patients, with 210 AdSD(+)VT patients (53%) and 188 AdSD(-)VT patients (47%). The length of follow-up and median number of treatments were similar between cohorts. AdSD(+)VT patients were more likely to be female (P < 0.001), and older at onset (P < 0.001) and first injection (P < 0.001). The mean maximal benefit was significantly lower for the AdSD(+)VT cohort (P < 0.01), however the mean length of benefit was similar (P = 0.70).
    CONCLUSIONS: Demographic differences exist between AdSD(+)VT and AdSD(-)VT patients. AdSD(+)VT patients benefit from BoNT-A treatment; however, our analysis suggests that the degree of their maximal benefit is less than in those without VT.
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  • 文章类型: Randomized Controlled Trial
    目的:文献中缺乏关于在进行清醒的办公室喉部注射期间改善患者体验的方法的数据。这项研究旨在评估使用局部麻醉药或振动器械是否可以减少喉肌张力障碍患者的整体疼痛。通常被称为痉挛性发声障碍(SD),正在进行经宫颈注射肉毒杆菌毒素。
    方法:这是一个不盲目的,采用交叉设计的前瞻性随机对照试验,每位患者接受经皮甲状腺注射肉毒杆菌毒素,交替使用无麻醉,局部麻醉(2%利多卡因在1:100,000肾上腺素中),连续三次喉部注射和振动器械治疗内收肌SD。患者被随机分配到他们接受这些治疗的顺序。患者以0-10视觉模拟量表(VAS)测量疼痛,并在接受所有三种镇痛方式后选择其首选技术。
    结果:32名患者完成了研究。三种镇痛技术之间的疼痛没有统计学上的显着差异(p=0.38)。最优选的镇痛技术是振动棒(44%(14/32))。利多卡因是第二优选的(37%(12/32)),19%(6/32)的患者不喜欢。当魔杖和无组合时,63%的患者首选这两种方法之一(95%exactCI:44%-79%)。
    结论:在这些不同的镇痛方式之间,患者在喉肉毒杆菌毒素注射过程中经历的中位疼痛没有统计学上的显著差异。超过一半的患者选择了不包括利多卡因的技术。该数据支持经皮喉部注射期间镇痛的个体化。
    方法:2喉镜,2023年。
    OBJECTIVE: There is an absence of data in the literature regarding methods to improve the patient experience during the performance of awake in-office laryngeal injections. This study sought to evaluate whether the use of local anesthetic or a vibrating instrument decreased overall pain experienced by patients with laryngeal dystonia, frequently referred to as spasmodic dysphonia (SD), undergoing transcervical botulinum toxin injections.
    METHODS: This was an unblinded, prospective randomized control trial with a crossover design where each patient received transcutaneous transcricothyroid injection of botulinum toxin with alternating use of no anesthesia, local anesthesia (2% lidocaine in 1:100,000 epinephrine), and vibrating instrument in three consecutive laryngeal injections to treat adductor SD. Patients were randomized to the order they received these treatments. Patients measured pain on a 0-10 visual analogue scale (VAS) and selected their preferred technique after receiving all three analgesic modalities.
    RESULTS: Thirty-two patients completed the study. There was no statistically significant difference in pain between the three analgesic techniques (p = 0.38). The most preferred analgesic technique was the vibrating wand (44% (14/32)). Lidocaine was the second most preferred (37% (12/32)) and 19% (6/32) of patients preferred nothing. When combining the wand and nothing groups, 63% of patients preferred one of these two methods (95% exact CI: 44%-79%).
    CONCLUSIONS: There was no statistically significant difference in median pain experienced by patients during laryngeal botulinum toxin injection between these different analgesic modalities. More than half of the patients selected a preference for a technique that did not include lidocaine. This data supports individualization of analgesia during transcutaneous laryngeal injections.
    METHODS: 2 Laryngoscope, 134:2277-2281, 2024.
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  • 文章类型: Journal Article
    目的:本研究旨在汇总和分析现有的临床证据,以比较单侧或双侧肉毒杆菌毒素注射治疗内收肌痉挛性发声障碍(ADSD)的疗效和不良反应。
    方法:从开始到2023年7月,从四个电子数据库中确定并检索了非随机对照试验和队列研究中有关单侧和双侧注射肉毒杆菌毒素治疗ADSD的疗效和不良反应的报告。荟萃分析采用固定或随机效应模型来评估合并的相对风险(RR),平均差异(MD),和标准平均差(SMD)及其相应的95%置信区间(CI)。
    结果:我们纳入了两项非随机对照试验和7项队列研究,共854例患者。纳入研究的荟萃分析表明,双侧肉毒杆菌毒素注射与更长的声带改善持续时间相关(MD=-2.89,95%CI-3.13至-2.65,I2=0%,P<0.00001)。然而,双侧肉毒杆菌毒素注射与不良反应增加相关,包括较长持续时间的呼吸语音质量(SMD=-0.51,95%CI-0.79至-0.22,I2=35%,P=0.0005)和较高的吞咽困难发生率(RR=0.46,95%CI0.35至0.11,I2=0%,P<0.00001)。
    结论:双侧肉毒杆菌毒素注射治疗ADSD的声带改善持续时间较长,与单侧注射相比,呼吸语音持续时间更长,吞咽困难的发生率和持续时间更高。
    OBJECTIVE: This study aims to aggregate and analyze existing clinical evidence to compare the efficacy and adverse effects of unilateral or bilateral botulinum toxin injections for the treatment of adductor spasmodic dysphonia (ADSD).
    METHODS: Reports from non-randomized controlled trials and cohort studies pertaining to the efficacy and adverse effects of unilateral and bilateral botulinum toxin injections for ADSD were identified and retrieved from four electronic databases from inception to July 2023. The meta-analysis employed fixed or random effects models to assess pooled relative risks (RR), mean differences (MDs), and standard mean differences (SMDs) with their corresponding 95% confidence intervals (CIs).
    RESULTS: We included two non-randomized controlled trials and seven cohort studies comprising 854 total patients. Meta-analysis of the included studies showed that bilateral botulinum toxin injections associated with a longer duration of vocal improvement (MD =  - 2.89, 95% CI - 3.13 to - 2.65, I2 = 0%, P < 0.00001). However, bilateral botulinum toxin injections associated with an increase in adverse effects, including a longer duration of breathy voice quality (SMD =  - 0.51, 95% CI - 0.79 to - 0.22, I2 = 35%, P = 0.0005) and a higher occurrence of swallowing difficulties (RR = 0.46, 95% CI 0.35 to 0.11, I2 = 0%, P < 0.00001).
    CONCLUSIONS: Bilateral botulinum toxin injections for ADSD showed a longer duration of vocal improvement, a longer breathy voice duration and a higher dysphagia occurrence and duration than unilateral injections.
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  • 文章类型: Journal Article
    背景:喉肌张力障碍(LD)是影响喉内肌的局灶性肌张力障碍。临床诊断需要经验丰富的临床医生进行主观评估,并且主要基于听觉感知评估。几种语音任务被广泛接受,以引起诊断特定的听觉感知症状,即内收肌LD的声门停止或外展肌LD的呼吸中断。随着美国讲西班牙语的人口不断增长,并且缺乏西班牙语语音任务来协助识别西班牙语科目中的LD,评估非西班牙语提供者使用的西班牙语语音加载句子的可靠性至关重要。这项研究的第一个目的是开发和评估一组西班牙语语音加载句子的可靠性,这些句子旨在引起LD的体征和症状。第二个目的是确定非西班牙语语言病理学家(SLP)在使用这些刺激识别西班牙语受试者中LD的有效性。
    方法:根据当前的LD评估指南,本研究开发了语音加载句子。语音样本是从讲西班牙语的人那里获得的。参与者包括20名LD患者和20名没有LD的患者作为对照。所有参与者的演讲者都由讲西班牙语的喉科医生进行评估。音频样本被提供给非西班牙语的SLP,这些SLP具有与LD人员合作的专业知识,这些人员担任评估者,并将样本分类为存在或不存在LD。计算Kappa和类内相关系数,并使用混合效应逻辑回归进行预测。
    结果:评估者之间和评估者内部的可靠性表明具有统计学意义的一致性。灵敏度,特异性,评估者对LD诊断的预测值总体较强。
    结论:研究结果表明,具有评估和治疗LD专业知识的非西班牙语SLP可以使用西班牙语语言刺激可靠地识别西班牙语个体中LD的存在。这项研究支持说英语的临床医生使用新开发的西班牙语语音加载语音和无声句子作为识别西班牙语使用者中LD的有效工具,也许可以减轻LD患者的诊断延迟。
    BACKGROUND: Laryngeal dystonia (LD) is a focal dystonia affecting the intrinsic laryngeal muscles. Clinical diagnosis requires subjective evaluation by experienced clinicians and is primarily based on auditory-perceptual assessment. Several speech tasks are widely accepted to elicit diagnosis specific auditory-perceptual symptoms of glottal stops in adductor LD or breathy breaks in abductor LD in spoken English. With the growing Spanish speaking population in the US and lack of Spanish speech tasks to assist in identifying LD in Spanish speaking subjects, assessing the reliability of phonemically loaded sentences in Spanish for use by non-Spanish speaking providers is critical. The first aim of this study was to develop and assess the reliability of a set of Spanish language phonemically loaded sentences designed to elicit signs and symptoms of LD. The second aim was to determine the effectiveness of non-Spanish speaking speech-language pathologists (SLPs) in identifying LD in Spanish speaking subjects using these stimuli.
    METHODS: Phonemically loaded sentences were developed for this study following current guidelines for assessment of LD. Voice samples were obtained from native Spanish speaking individuals. Participant-speakers included 20 people with LD and 20 people without LD who served as controls. All participant-speakers were assessed by a Spanish-speaking laryngologist. Audio samples were presented to non-Spanish speaking SLPs with expertise in working with people with LD who served as raters and classified the samples as either presence or absence of LD. Kappa and the intra-class correlation coefficient were calculated and mixed effects logistic regression was used for prediction.
    RESULTS: The inter and intra-rater reliability indicated statistically significant agreement. Sensitivity, specificity, and predictive values for the diagnosis of LD by the raters were overall strong.
    CONCLUSIONS: Findings demonstrate that non-Spanish speaking SLPs with expertise in the assessment and treatment of LD can reliably identify the presence of LD using Spanish language stimuli in Spanish-speaking individuals. This study supports the use of newly developed Spanish language phonemically loaded voiced and voiceless sentences by English speaking clinicians as an effective tool for identifying LD in Spanish speakers, perhaps mitigating diagnostic delays experienced by patients with LD.
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