Torticollis in children with enlarged vestibular aqueducts

Brodsky, Jacob R.; Kaur, Karampreet; Shoshany, Talia N.; Manganella, Juliana; Barrett, Devon; Kawai, Kosuke; Murray, Makenzie; Licameli, Greg R.; Albano, Victoria; Stolzer, Amanda; Kenna, Margaret A.

doi:10.1016/j.ijporl.2020.109862

Cited by 5 publications

(7 citation statements)

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“…10 Two recent studies documented an average age of 3.0 years-old and 3.9 years-old at HL diagnosis among a cohort of 48 patients with EVA and 66 patients with EVA, respectively. 13,15 In addition, a recent study reported that 31% of patients with EVA had torticollis as a potential early marker which may prompt audiological monitoring and imaging diagnosis of EVA. 15 Still, the average age of diagnosis of EVA-associated HL has not been well-studied in a large cohort of patients.…”

Section: Introductionmentioning

confidence: 99%

Newborn Hearing Screening Results in Patients with Enlarged Vestibular Aqueduct

et al. 2023

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ObjectivesEnlarged vestibular aqueduct (EVA) is the most common anatomic abnormality contributing to permanent hearing loss (HL) in children. Although the association between EVA and HL is well‐documented, the pass rate for the newborn hearing screening (NBHS) for patients with EVA‐related HL is not. Our objective was to investigate the association between NBHS results and audiologic and clinical outcomes in a large cohort of pediatric patients with EVA.MethodsThis was a retrospective chart review of patients seen in the Boston Children's Hospital (BCH) Department of Otolaryngology and Communication Enhancement with confirmed HL, known NBHS results, and confirmed EVA. Demographic, clinical, audiologic, and imaging data were collected from the medical record. Frequency‐specific data points from pure‐tone audiograms and/or automated auditory brainstem response tests were recorded, and four‐frequency pure tone average was calculated using air conduction thresholds at 500, 1000, 2000, and 4000 Hz.ResultsOf the 183 patients included in the study, 84 (45.9%) passed their NBHS, whereas 99 (54.1%) did not pass. Compared with patients who did not pass, patients who passed were more likely to have unilateral EVA and unilateral HL, whereas they were less likely to undergo cochlear implantation and to have causative SLC26A4 variants.ConclusionsEVA‐associated HL may be identified at birth or during childhood, with nearly half the patients in this cohort passing their NBHS. Our results provide prognostic information for patients with EVA who pass their NBHS and highlight the importance of regular hearing monitoring for children not initially suspected of having HL.Level of Evidence4 Laryngoscope, 133:2786–2791, 2023

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Section: Introductionmentioning

confidence: 99%

Newborn Hearing Screening Results in Patients with Enlarged Vestibular Aqueduct

et al. 2023

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“…Infants with BPTI may demonstrate cervical lateral flexion to the same side with each episode of BPTI or switch head presentation sides 4–6. There are ongoing studies investigating the relationship between BPTI and enlarged vestibular aqueduct (EVA) due to similar participant characteristics 7,8. Enlarged vestibular aqueduct is the most common structural temporal bone anomaly associated with congenital hearing loss; the hearing loss can fluctuate, is often progressive, and identified outside the perinatal period 8,9.…”

Section: Introduction/purposementioning

confidence: 99%

“…[4][5][6] There are ongoing studies investigating the relationship between BPTI and enlarged vestibular aqueduct (EVA) due to similar participant characteristics. 7,8 Enlarged vestibular aqueduct is the most common structural temporal bone anomaly associated with congenital hearing loss; the hearing loss can fluctuate, is often progressive, and identified outside the perinatal period. 8,9 Individuals with EVA often have a head tilt in infancy before sensorineural hearing loss is identified, as late as 43 months after onset of torticollis.…”

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“…7,8 Enlarged vestibular aqueduct is the most common structural temporal bone anomaly associated with congenital hearing loss; the hearing loss can fluctuate, is often progressive, and identified outside the perinatal period. 8,9 Individuals with EVA often have a head tilt in infancy before sensorineural hearing loss is identified, as late as 43 months after onset of torticollis. 8 Sandifer syndrome is characterized by abnormal movement of the head and the neck associated with an episode of gastroesophageal reflux.…”

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confidence: 99%

“…8,9 Individuals with EVA often have a head tilt in infancy before sensorineural hearing loss is identified, as late as 43 months after onset of torticollis. 8 Sandifer syndrome is characterized by abnormal movement of the head and the neck associated with an episode of gastroesophageal reflux. 10 The abnormal neck posture associated with Sandifer syndrome is intermittent and may involve changing head presentation sides, which is not related to abnormalities of the sternocleidomastoid muscle.…”

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confidence: 99%

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Infants With Torticollis Who Changed Head Presentation During A Physical Therapy Episode

Greve

Perry

Mischnick

2022

Pediatric Physical Therapy

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Purpose: The purpose of this study is to describe infants with congenital muscular torticollis (CMT) who changed head presentation during an episode of physical therapy. Methods: Data were extracted from electronic medical records between January 2015 and December 2018 to describe infants with CMT who changed presentation. Results: Eighty-nine infants met criteria (predominantly male, non-Hispanic, White, with private insurance). Torticollis symptoms were noticed by 3 months in 90% of infants with a physical therapy examination before 6 months in 100% of infants. Most infants had early mild CMT with abnormal head shape and greater limitation in active cervical range of motion (ROM) than passive cervical ROM. Clinicians frequently recommended weekly physical therapy that included first-choice and supplemental interventions. Episodes of care averaged 7 visits over 64 days with 73% of infants meeting goals. Conclusion: Physical therapists should recognize that infants with CMT may change presentation but benefit from physical therapy to resolve symptoms.

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Child with Dizziness

O’Shea

Brodsky

2022

Symptom-Based Approach to Pediatric Neurology

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Torticollis in children with enlarged vestibular aqueducts

Cited by 5 publications

References 28 publications

Newborn Hearing Screening Results in Patients with Enlarged Vestibular Aqueduct

Newborn Hearing Screening Results in Patients with Enlarged Vestibular Aqueduct

Infants With Torticollis Who Changed Head Presentation During A Physical Therapy Episode

Child with Dizziness

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