A deployable curriculum with 3D printed skills trainers for altered airway management.

BACKGROUND: Altered Airway Anatomy (AAA), including tracheostomies and laryngectomies, may represent an area of unease for non-Otolaryngology trainees, due to a lack of exposure, structured education, or dedicated training in altered airway management. Inability to effectively stabilize an altered airway is associated with significant risk of patient morbidity and mortality. This study aims to assess the efficacy of a concise curriculum using three-dimensional (3D) printed airway models for skill training in improving Anesthesiology trainees' competency in AAA management. METHODS: A prospective cohort of 42 anesthesiology residents at a tertiary care institution were guided through a 75-min curriculum on AAA, including case discussion, surgical video, and hands-on practice with tracheostomy and laryngectomy skills trainers. Pre- and post- course surveys assessing provider confidence (Likert scale) and knowledge (multiple choice questions) were administered. Additionally, an observed skills competency assessment was performed. RESULTS: Self-perceived confidence improved from a summative score across all domains of 23.65/40 pre-course to 36.39/40 post-course (n = 31, p < 0.001). Technical knowledge on multiple choice questions improved from 71 to 95% (n = 29, p < 0.001). In the completed skills competency assessment, 42/42 residents completed 5/5 assessed tasks successfully, demonstrating objective skills-based competency. CONCLUSIONS: This study demonstrates an improvement in anesthesiology resident self-assessed confidence, objective knowledge, and skills based competency surrounding management of patients with AAA following a 75-min simulation-based curriculum.

Pain management after microtia repair with costal cartilage: De-escalation and opioid use reduction.

OBJECTIVE: Complex and invasive postoperative pain regimens for microtia reconstruction with costal cartilage are often utilized. These generate added costs and invasiveness. We evaluated the effectiveness of a de-escalated pain regimen without use of invasive interventions. METHODS: Case series of patients who underwent stage 1 microtia reconstruction with a modified Nagata/Firmin technique from 2017 to 2020 at a pediatric tertiary care hospital. Patients received intraoperative bupivacaine intercostal blocks and scheduled acetaminophen. Adjunct medications administered and pain scores (Wong-Baker FACES and FLACC-Face, Legs, Activity, Cry, Consolability) at intervals 2-72 h postoperatively were recorded. Narcotic use, peak and median pain scores, and length of stay were compared with published values. RESULTS: Twenty patients were included. Mean age of 12 and length of stay of 2.8 days. Average postoperative FACES scores between 0 and 72 h ranged between 0.7 and 4.0. The average peak pain score was 6.1 (±2.0). FLACC scores were low. Narcotics (0.59 ±0 .35 Morphine Milligram Equivalents/kg) were given to 17 patients. Compared to Shaffer et al. (paravertebral catheter-based infusion), total narcotics use (p = 0.03), peak pain (p = 0.0001), and length of stay (p = 0.001) were less. Compared to Woo et al. (intercostal catheter-based infusion), median pain scores at identical time intervals were lower (p = 0.04). CONCLUSION: Intraoperative intercostal nerve blocks followed by scheduled, weight-based acetaminophen, adjunctive medications (ibuprofen and lidocaine patches), and rescue narcotics are effective in managing pain following microtia repair with autologous costal cartilage. It results in decreased narcotic usage, shorter length of stay, and lower pain scores compared to more complex regimens.

The Effect of Anonymity on Quality of Resident Feedback.

OBJECTIVE: Quality feedback is critical to facilitate better performance and quicker learning. However, faculty may be hesitant to provide quality constructive feedback, especially in written form, due to fear of retaliation. We evaluated the impact of faculty anonymity on the quality of faculty-to-resident feedback. DESIGN: A retrospective review was undertaken of faculty evaluation of resident performance from 2017 to 2018, when evaluations were identifiable, compared to 2018-2019, when evaluations were anonymous. Evaluations included 27 individual items with Likert type scoring and 2 open-ended questions. Open-ended responses and overall performance were de-identified and scored by 2 reviewers independently using the task, performance gap, action scoring model. Comparisons between groups were performed with the Wilcoxon-Mann-Whitney test. SETTING: Tertiary Care Institution, University of Michigan, Ann Arbor, MI PARTICIPANTS: 415 resident performance evaluations were available for analysis with 251 in the identifiable group and 164 in the anonymous group. RESULTS: The average composite score for the identifiable group was 105.2 and 103.4 in the anonymous group (p = 0.22). The effect size of the impact on composite score was small (Cohen's d 0.084, 95% CI -0.11-0.28). There was excellent inter-rater reliability. There were no differences between feedback groups for any of the 3 components of task, performance gap, and action model. While average scores for all 3 components were low, action scores were lowest. CONCLUSIONS: Anonymity did not significantly impact faculty evaluations of resident performance. The quality of open-ended feedback on written evaluations was generally poor, especially in identifying actions for continued performance improvement. Additional mechanisms to improve feedback quality should be sought.

Montgomery's Aperture: An External Anatomic Landmark for Surgical Identification of the Anterior Commissure.

OBJECTIVES: This study evaluates the consistency of palpable identification of an external landmark for the anterior commissure (AC), termed Montgomery's aperture (MA), in cadaveric and surgical settings. METHODS: Part 1: In human cadaveric larynges, palpation of the external laryngeal framework was used to identify MA by three blinded otolaryngologists. The vertical height (VH) of the thyroid cartilage and distance from MA to the inferior border of the thyroid cartilage were measured, larynges were bisected, and the AC was identified and measured. Surface anatomy was demonstrated visually using 3D imaging. Part 2: Retrospectively collected case series used palpation of MA in thyroplasty type 1 (TT1) and compared the result to ½ VH. RESULTS: Part 1: MA was identified in seven cadavers by three surgeons. In four of seven MA was palpated at the location of AC. The average difference between the AC and MA was -0.95 ± 0.96 mm. The average difference between AC and ½VH was 0.08 ± 0.72 mm. Part 2: In 49 patients (57% females) who underwent TT1, MA correlated within ½VH in 67% of cases. MA was inferior to ½VH in 27% of cases, on average 1.08 mm ± 0.51 mm below ½VH. MA was not palpable in 6% (3 of 49) of patients. CONCLUSION: We define the MA as the external indentation or flattening of the thyroid cartilage located within 1 millimeter inferior or at ½ VH of the thyroid cartilage. MA is a reliable, reproducible, palpable landmark for the anterior commissure. It serves as an important landmark that can be used in laryngoplastic surgery in which accurate prediction of the glottis is important.

A Report on the Use of Telehealth in Otolaryngology in the Pre COVID-19 Era.

Objective: To investigate the integration of and barriers to the utilization of telehealth technology and its components (telemedicine, e-Health, m-health) in daily otolaryngologic practice before the SARS CoV-2 (COVID-19) pandemic. Methods: This cross-sectional study was conducted at a tertiary academic center. A national survey of members of the American Academy of Otolaryngology-Head and Neck Surgery was administered. Descriptive analyses were performed to determine how telehealth was employed in otolaryngologists' practices. Results: A total of 184 surveys were completed. Telehealth technology was used by 50% of otolaryngologists surveyed. Regions with the largest percentage of physicians using telehealth were the Mid-Atlantic region (84%) and West Coast (67%). Most otolaryngologists indicated that they were familiar with telehealth or any of its components and how it is used in practice (52-83%), they had heard of telehealth or any of its components but were unsure what the terms specifically entailed (17-42%); 53% were satisfied with their current use of telehealth and electronic medical record (EMR); and 72% were comfortable utilizing smart devices for patient care. Most otolaryngologists (65%) indicated reimbursement as the biggest limitation to implementing telehealth, and 67% believed that typing was a hindrance to EMR utility. Conclusion: Half of the surveyed otolaryngologists used some form of telehealth at the time of the survey. The most commonly cited obstacle to physician adoption of telehealth was reimbursement. Although the adoption of telehealth technology was still limited in the field of otolaryngology based on this study, we are now seeing significant change due to the COVID-19 pandemic.

Unbiased Measure of General Quality of Life in Chronic Rhinosinusitis Reveals Disease Modifiers.

INTRODUCTION: Chronic rhinosinusitis (CRS) is associated with a significant decrease in general health-related quality of life (QOL). The EuroQol 5-dimensional questionnaire measures general health-related quality of life through a health utility value (EQ-5D HUV)-based on five domains reflecting mobility, self-care, activities of daily life, pain/discomfort, and anxiety/depression-and an unbiased visual analog scale (EQ-5D VAS). We sought to identify characteristics of CRS patients with a high EQ-5D HUV but low EQ-5D VAS score. MATERIALS AND METHODS: Retrospective cross-sectional study of 300 CRS patients with EQ-5D HUV equal to 1.0 (reflecting perfect health). All patients completed a 22-item Sinonasal Outcome Test (SNOT-22)-from which nasal, sleep, ear/facial discomfort, and emotional subdomain scores were calculated, as well as the EQ-5D. Low EQ-5D VAS was defined as a score less than 80. RESULTS: On multivariate analysis, low EQ-5D VAS was associated with only the SNOT-22 sleep subdomain score (odds ratio [OR] = 1.07, 95%CI: 1.02-1.12, P = .003). Comorbid asthma was also associated with lower EQ-5D VAS (OR = 2.16, 95%CI: 1.02-4.59, P = .045). In contrast, polyps were negatively associated with having a lower EQ-5D VAS (OR = 0.34, 95%CI: 0.17-0.69, P = .003). CONCLUSION: There are patients with perfect general health-related QOL according to a health utility value-based methodology (like the EQ-5D HUV) who report low general health-related QOL on an unbiased measure like the EQ-5D VAS. In CRS patients with perfect EQ-5D HUV, poor sleep and asthma were associated with low QOL on the EQ-5D VAS, while polyps were negatively associated with low QOL. LEVEL OF EVIDENCE: 3 Laryngoscope, 131:1206-1211, 2021.

Emotional and Personality Traits are Determinants of Activity Avoidance in Chronic Rhinosinusitis Patients.

OBJECTIVES: Chronic rhinosinusitis (CRS), like other sinonasal diseases, may be associated with avoidance of daily activities. Our goal was to identify characteristics associated with avoidance of activities due to CRS. MATERIALS AND METHODS: A total of 194 CRS patients were recruited. CRS symptom burden was assessed with the 22-item Sinonasal Outcome Test (SNOT-22). SNOT-22 nasal, sleep, ear/facial discomfort and emotional/psychological subdomain scores were calculated. Depressed mood was assessed using the two-item Patient Health Questionnaire (PHQ-2). Personality traits including conscientiousness, neuroticism, agreeableness, openness, and extraversion were assessed using the Big Five Inventory-10 (BFI-10) questionnaire. As the primary outcome, participants rated how often in the prior week that they had avoided any activities in day-to-day life due to their nasal or sinus symptoms on a scale of "never," "rarely," "sometimes," "often," or "extremely often." Ordinal regression models, with bootstrap validation, were used to identify associations between activity avoidance and participants' characteristics. RESULTS: On multivariable analysis, SNOT-22 score (odds ratio [OR] = 1.03, 95% CI, 1.01-1.04, P = .026), and conscientiousness personality trait (OR = 1.38, 95% CI, 1.05-1.81, P = .019) were positively associated with activity avoidance while age (OR = 0.98, 95% CI, 0.96-0.99, P = .049) was negatively associated with activity avoidance. Of CRS symptom burden/SNOT-22 subdomains, only the emotional/psychological subdomain score (OR = 1.28, 95% CI, 1.12-1.46, P < .001) was associated with activity avoidance. CONCLUSION: Younger age and the conscientiousness personality trait were associated with activity avoidance in CRS patients. Of CRS-associated symptomatology, sadness and embarrassment were associated with activity avoidance. Emotional traits and personality most strongly predict avoidance of activities in CRS patients. LEVEL OF EVIDENCE: 2c. Laryngoscope, 131:707-712, 2021.

Hypoglossal Nerve Stimulation: Outcomes in Veterans with Obstructive Sleep Apnea and Common Comorbid Post-traumatic Stress Disorder.

OBJECTIVES/HYPOTHESIS: Veterans have an increasing prevalence of obstructive sleep apnea (OSA) and high levels of intolerance to positive airway pressure (PAP). The hypoglossal nerve stimulator (HNS) is a promising alternative surgical treatment for OSA in these patients, many of whom suffer from mental health conditions such as post-traumatic stress disorder (PTSD) that may negatively affect their ability to use PAP. Our aims were: 1) to assess postoperative changes in OSA severity and sleepiness in a veteran only population after HNS; 2) to compare postoperative changes in OSA severity, sleepiness and HNS adherence between veterans with and without PTSD; and 3) to compare HNS adherence in our population to HNS adherence in the current literature as well as published PAP adherence data. STUDY DESIGN: Retrospective and prospective case series. METHODS: Clinical data on consecutive patients undergoing HNS in a Veterans Affairs hospital were examined for demographic data as well as medical, sleep, and mental health comorbidities. The overall cohort as well as subsets of patients with and without PTSD were examined for postoperative changes in OSA severity (apnea hypopnea index [AHI], lowest oxygen saturation (LSAT]), and sleepiness (Epworth sleepiness scale [ESS]), as well as for device adherence. PTSD and depression symptomatology were measured using the PTSD Checklist 5 (PCL-5) and Patient Health Questionnaire 9 (PHQ-9). RESULTS: Forty-six veterans were included. Forty-four patients were male (95.6%), 45 were white (97.8%), and the mean age was 61.3 years. Twenty-six patients met PCL-5 criteria for PTSD and 17 did not. OSA severity and sleepiness improved significantly in the overall cohort after HNS; median (IQR) AHI decreased from 39.2 (24.0, 63.0) to 7.4 (1.2, 20.8) events/hour (P < .0001), mean LSAT increased from 81% to 88% (P < .0001) and mean ESS decreased from 10.9 to 6.7 (P < .0001). These improvements were similar between patients with and without PTSD (P = .434-.918). Overall device adherence was 6.1 hours/night for the overall cohort and was not significantly different between patients with and without PTSD (P = .992). CONCLUSIONS: HNS is an efficacious therapy in a veteran population, providing patients with significant improvements in OSA severity and sleepiness. Veterans with and without PTSD benefited similarly from HNS when comparing improvements in sleep apnea severity and sleepiness as well as device usage. Adherence was similar to previously published HNS adherence data and better than PAP adherence reported in the literature. LEVEL OF EVIDENCE: 4 Laryngoscope, 131:S1-S11, 2021.

Association of the sinonasal bacterial microbiome with clinical outcomes in chronic rhinosinusitis: a systematic review.

BACKGROUND: The association between sinonasal microbiome and clinical outcomes of patients with chronic rhinosinusitis (CRS) is unclear. We performed a systematic review of prior studies evaluating the CRS microbiome in relation to clinical outcomes. METHODS: Computerized searches of PubMed/Medline, Cochrane, and EMBASE were updated through October 2019 revealing a total of 9 studies including 244 CRS patients. A systematic review of the literature was performed, including data extraction focusing on sample region, sequencing platforms, predominant organisms, and outcomes measures. RESULTS: Nine criterion-meeting studies included 244 CRS patients, with varied results. Eight studies used 16s-ribosomal RNA (16s-rRNA) gene sequencing to assess the sinonasal microbiome and 1 used 16s-rRNA PhyloChip analysis. Seven studies used Sino-Nasal Outcome Test scores, 1 applied another CRS symptom metric, and 1 used need for additional procedures/antibiotics as the primary clinical outcome. Three studies suggest that baseline abundance of phylum Actinobacteria (specifically genus Corynebacterium) was predictive of better surgical outcome. One study found C. tuberculostearicum was positively correlated with symptom severity. Another study revealed genus Escherichia was overrepresented in CRS and had positive correlation with increased symptom scores. In addition, 1 study identified Acinetobacter johnsonii to be associated with improvement in symptom scores while supporting Pseudomonas aeruginosa as having a negative impact on quality of life. CONCLUSION: Microbiome data are varied in their association with clinical outcomes of CRS patients. Further research is required to identify if predominance of certain microbes within the microbiome is predictive of CRS patients' outcomes.

Hypoglossal Nerve Stimulator Outcomes for Patients Outside the U.S. FDA Recommendations.

OBJECTIVES: The hypoglossal nerve stimulator (HGNS) is currently approved for the treatment of obstructive sleep apnea (OSA) in patients with an apnea-hypopnea index (AHI) of >15 to ≤65 events/hour, and a central apnea index (CAI) <25% of the AHI, no complete concentric collapse on drug-induced sleep endoscopy, and a recommended body mass index (BMI) <32 kg/m2 . We present 18 patients implanted as a salvage procedure despite being outside these guidelines. METHODS: We included all patients who underwent HGNS but who did not meet all FDA guidelines. Demographic data, previous OSA treatments, polysomnographic (PSG) parameters from baseline and HGNS titration PSG, Epworth sleepiness score (ESS), and BMI were compared before and after surgery. RESULTS: Eighteen patients were identified: 94.4% male, median age 63 years. Seven underwent previous sleep surgery. Four had an AHI <15 (mean 10.5 events/hour), four had an AHI >65 (mean 86.9 events/hour), two had an elevated CAI (mean 31.3% of AHI), and 12 had a BMI >32 kg/m2 (range 32.1-39.1). Median AHI decreased from 25.3 to 3.75 events/hour on titration polysomnography (P = .0006), oxyhemoglobin saturation nadir increased from 82% to 88.5% (P = .0001) and median ESS dropped from 11 to 7.5 (P = .0016). Fifteen (83.3%) patients achieved surgical success (decrease in AHI >50% and AHI <20 events/hour) and 12 (66.7%) had an AHI <5 events/hour. Neither patient with CAI >25% was successfully treated. Median adherence = 33.5 hours/week. CONCLUSION: Our success rate for patients outside the Food and Drug Administration guidelines for HGNS (67%) was similar to the 1-year STAR trial results (66%). Future studies are necessary to consider expansion of these guidelines. LEVEL OF EVIDENCE: 4 Laryngoscope, 130:866-872, 2020.

Yolk Sac Tumors of the Head and Neck in Aicardi Syndrome.

OBJECTIVES: To understand that yolk sac tumors (YSTs) of the head and neck (H&N) are exceedingly rare and typically carry a poor prognosis. To acknowledge the possibility of increased incidence in patients with Aicardi Syndrome and the ramifications this has on early diagnosis and treatment in this population. METHODS: To date, four germ cells tumors of the H&N have been reported in patients with Aicardi Syndrome. This report presents the second known case of a H&N YST in a patient with Aicardi syndrome. In both cases, the patient was initially misdiagnosed given unconvincing radiologic evidence. However, tissue diagnosis and elevated alpha-fetoprotein (AFP) levels were suggestive of a YST. RESULTS: In contrast to the poor prognosis previously described, both patients with Aicardi syndrome had an excellent chemotherapeutic response exhibited by normalization of AFP levels and imaging. CONCLUSIONS: Rare germ cell tumors of the H&N, such as YSTs, have now been documented in several patients with Aicardi syndrome, indicating a possible association given the rarity of these tumors in the population. YSTs should be considered in the differential diagnosis of H&N masses in these patients, with emphasis on early tissue diagnosis and treatment.

Hypoglossal Nerve Stimulation in Veterans with Obstructive Sleep Apnea.

OBJECTIVES: The hypoglossal nerve stimulator (HNS) is an effective treatment for obstructive sleep apnea (OSA) in a relatively healthy subset of the population. Our aim was to determine the efficacy of HNS in a veteran population with a high incidence of chronic disease and mental health disorders. Our secondary aim was to compare subjective outcomes and adherence between veterans with and without mental health disorders. METHODS: We included all patients who underwent HNS at our institution to date. Veterans were divided into two groups based on whether or not they carried a diagnosis of anxiety, depression, and/or post-traumatic stress disorder. Demographics, comorbidities, previous OSA treatments, adverse events, and adherence to therapy were recorded. Baseline and treatment outcome data were collected and analyzed including polysomnographic parameters, Epworth sleepiness scale score (ESS), and body mass index. RESULTS: Thirty-one patients were identified: 93.5% male, median age = 63.0 years. Median apnea hypopnea index (AHI) decreased from 30.0 to 3.0 events/hour (P < .001) and median ESS dropped from 11.0 to 6.5 (P < .001). There was no difference between groups with regard to change in AHI or ESS (P = .31 and .61). Twenty-six (89.7%) patients achieved surgical success (decrease in AHI > 50% and AHI < 20 events/hour) and 21 (72.4%) had AHI < 5 events/hour. The mean device usage was 5.4 hours/night which was not significantly different between groups (P = .55). CONCLUSION: Our cohort exhibited similar declines in AHI and ESS compared to published studies with adequate adherence to HNS. There were no significant differences in ESS or adherence to therapy between veterans with and without mental health disorders. LEVEL OF EVIDENCE: 4 Laryngoscope, 130:2275-2280, 2020.

Dysphagia lusoria: problem or incidentaloma?

PURPOSE OF REVIEW: To address the incidental versus pathogenic nature of dysphagia lusoria and to provide a review of the cause, clinical presentation, diagnosis, and treatment of this condition with respect to recent literature. RECENT FINDINGS: Case reports comprise the majority of recent literature concerning dysphagia lusoria. Many patients with an aberrant right subclavian artery (ARSA) have additional coexisting vascular anomalies. While most individuals present around age 50, some present as children and neonates. Of note, this population may present with dysphagia as opposed to respiratory findings alone, as previously described. In the diagnostic workup, most patients receive a battery of radiologic tests, which may not be necessary. Significantly, dietary modifications and medical management alone may resolve symptoms. Nonetheless, a wide range of operative techniques are available for the treatment of dysphagia lusoria. SUMMARY: Clinicians should have a higher suspicion for dysphagia lusoria in patients with known vascular, heart, or chromosomal anomalies. Diagnosis should begin with a barium esophagram followed by a computed tomography angiogram or magnetic resonance angiogram. Avoid unnecessary studies. In many cases, an ARSA may be an incidental finding with comorbid gastroesophageal reflux disease or another medical condition responsible for the symptoms. Medical versus surgical management should be considered on a case-by-case basis.

Predictors of efficacy for combination oral and topical corticosteroids to treat patients with chronic rhinosinusitis with nasal polyps.

BACKGROUND: A short-course oral corticosteroid taper and topical intranasal corticosteroids may be used to maximize the success of medical management for chronic rhinosinusitis with nasal polyps (CRSwNP). In this study, we sought to identify characteristics that would be predictive of efficacy for this combination regimen. METHODS: Sixty-four patients with CRS, bilateral polyps, a polyp score of at least 3, and a 22-item Sino-Nasal Outcome Test (SNOT-22) score ≥20 were prospectively enrolled and uniformly treated with a 15-day prednisone taper and twice daily dilute budesonide irrigations. Participants were assessed at enrollment and at follow up, 2 to 5 months later. Clinical and demographic characteristics were assessed at enrollment. At both time points, CRS symptoms were assessed with SNOT-22, and polyp score (range, 0 to 6) was assessed endoscopically. Associations were determined with regression. RESULTS: Pretreatment SNOT-22 score (adjusted ß = -0.83; 95% CI, -1.08 to -0.58; p < 0.001) and comorbid asthma (adjusted ß = 15.75; 95% CI, 4.74 to 26.75; p = 0.007) were associated with a change in SNOT-22 experienced over the study period. Achieving a greater-than-1 minimal clinically important difference (MCID) improvement in SNOT-22 score was also associated with pretreatment SNOT-22 score (adjusted OR = 1.09; 95% CI, 1.04 to 1.14; p < 0.001) and comorbid asthma (adjusted OR = 0.13; 95% CI, 0.03 to 0.72; p = 0.019). SNOT-22 score ≥47 had 81.5% sensitivity and 78.4% specificity to detect patients experiencing 1 MCID improvement. Pretreatment polyp score was not associated with any outcome metric. CONCLUSION: In treatment of CRSwNP with prednisone and budesonide irrigations, pretreatment endoscopy was not informative of treatment response. Pretreatment SNOT-22 and comorbid asthma may be more predictive.

Radiologic recognition of cochlear implant magnet displacement.

Despite various studies that have demonstrated risk of cochlear implant magnet displacement following MRI, minimal literature is available on radiologic recognition of magnet displacement. Current literature emphasizes the status and placement of the electrode component of the implant. This case report examines the consequences of a delay in radiologic diagnosis of a displaced magnet including hospital admission, unnecessary radiation, and prolonged patient discomfort. Additionally, it provides a framework for successful radiologic recognition of a displaced magnet, detailing specific imaging modalities and magnet characteristics that should be evaluated to expedite and facilitate radiologic recognition of displacement.

An Atypical Rett Syndrome Phenotype Due to a Novel Missense Mutation in CACNA1A.

BACKGROUND: Some typical and atypical Rett syndrome patients lack known genetic mutations. Mutations in the P/Q type calcium channel CACNA1A have been implicated in epileptic encephalopathy, familial hemiplegic migraine, episodic ataxia 2, and spinocerebellar ataxia 6, but not Rett syndrome. Patient Description: The authors describe a female patient with developmental regression and a de novo, likely pathogenic mutation in CACNA1A who meets 3 of 4 main criteria (stereotypic hand movements, loss of purposeful hand movements, gait disturbance), and 6 of 11 supportive criteria (impaired sleep, abnormal tone, vasomotor disturbance, scoliosis, growth retardation, and screaming spells) for atypical Rett syndrome. Furthermore, she resembles the early seizure variant of Rett syndrome. Previously, 3 children with similar CACNA1A mutations have been reported, but a Rett syndrome phenotype has not been described. CONCLUSION: CACNA1A mutations should be considered in children presenting with an atypical Rett syndrome phenotype, specifically, the early seizure variant.