A Pilot Study Evaluating the Timing of Vestibular Therapy After Sport-Related Concussion: Is Earlier Better?

BACKGROUND: Vestibular dysfunction, characterized by nausea, dizziness, imbalance, and/or gait disturbance, represents an important sport-related concussion (SRC) subtype associated with prolonged recovery. Vestibular physical therapy promotes recovery; however, the benefit of earlier therapy is unclear. HYPOTHESIS: Earlier vestibular therapy for young athletes with SRC is associated with earlier return to play (RTP), return to learn (RTL), and symptom resolution. STUDY DESIGN: Retrospective cohort study. LEVEL OF EVIDENCE: Level 3. METHODS: Patients aged 5 to 23 years with SRC who initiated vestibular rehabilitation therapy (VRT) from January 2019 to December 2019 were included and patient records were reviewed. Therapy initiation was defined as either early, ≤30 days postinjury, or late (>30 days). Univariate comparisons between groups, Kaplan-Meier plots, and multivariate Cox proportional hazard modeling were performed. RESULTS: Overall, 23 patients (10 early, 13 late) aged 16.14 ± 2.98 years and 43.5% were male patients. There was no difference between group demographics or medical history. Median initial total and vestibular symptom scores were comparable between groups. The late therapy group required additional time to RTP (110 days [61.3, 150.8] vs 31 days [22.5, 74.5], P = 0.03) and to achieve symptom resolution (121.5 days [71, 222.8] vs 54 days [27, 91], P = 0.02), but not to RTL (12 days [3.5, 26.5] vs 17.5 days [8, 20.75], P = 0.09). Adjusting for age and initial total symptom score, earlier therapy was protective against delayed symptom resolution (P = 0.01). CONCLUSION: This pilot study suggests that initiating VRT within the first 30 days after SRC is associated with earlier RTP and symptom resolution. Further prospective trials to evaluate if even earlier VRT should be pursued to further improve recovery time. CLINICAL RELEVANCE: Clinicians should screen for vestibular dysfunction and consider modifying follow-up schedules after SRC to initiate VRT within a month of injury for improved outcomes.

Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders.

X-linked adrenoleukodystrophy (X-ALD) results from mutations in ABCD1. ABCD1 resides on Xq28 and encodes an integral peroxisomal membrane protein (ALD protein [ALDP]) that is of unknown function and that belongs to the ATP-binding cassette-transporter superfamily. Individuals with ABCD1 mutations accumulate very-long-chain fatty acids (VLCFA) (carbon length >22). Childhood cerebral X-ALD is the most devastating form of the disease. These children have the earliest onset (age 7.2 +/- 1.7 years) among the clinical phenotypes for ABCD1 mutations, but onset does not occur at <3 years of age. Individuals with either peroxisomal biogenesis disorders (PBD) or single-enzyme deficiencies (SED) in the peroxisomal beta-oxidation pathway--disorders such as acyl CoA oxidase deficiency and bifunctional protein deficiency--also accumulate VLCFA, but they present during the neonatal period. Until now, it has been possible to distinguish unequivocally between individuals with these autosomal recessively inherited syndromes and individuals with ABCD1 mutations, on the basis of the clinical presentation and measurement of other biochemical markers. We have identified three newborn boys who had clinical symptoms and initial biochemical results consistent with PBD or SED. In further study, however, we showed that they lacked ALDP, and we identified deletions that extended into the promoter region of ABCD1 and the neighboring gene, DXS1357E. Mutations in DXS1357E and the ABCD1 promoter region have not been described previously. We propose that the term "contiguous ABCD1 DXS1357E deletion syndrome" (CADDS) be used to identify this new contiguous-gene syndrome. The three patients with CADDS who are described here have important implications for genetic counseling, because individuals with CADDS may previously have been misdiagnosed as having an autosomal recessive PBD or SED