OBJECTIVES: This paper is a pilot study designed to compare the effects of Bal Ex as a home-based VRT on the quality of life (EQ-5D), dizziness handicap (DHI) and mental health (DASS-21) against hospital-based VRT.
DESIGN: This was an assessor-blinded, randomized controlled pilot study where PPPD patients were randomly selected to undergo Bal Ex, the home-based VRT (intervention group) or hospital-based (control group) VRT. The participants were reviewed at 4 weeks and 12 weeks after the start of therapy to assess the primary endpoints using the subjective improvement in symptoms as reported by patients, changes in DHI scores, DASS-21 scores and EQ5D VAS scores.
RESULTS: Thirty PPPD patients successfully completed the study with 15 in each study group. Within 4 weeks, there were significant improvements in the total DHI scores as well as anxiety levels. By the end of 12 weeks, there were significant improvements in the DHI, DASS-21 and EQ5D. The degree of improvement between Bal Ex and the control was comparable.
CONCLUSION: VRT is an effective modality in significantly improving quality of life, dizziness handicap, depression, and anxiety levels within 3 months in PPPD. Preliminary results show Bal Ex is as effective as hospital-based VRT and should be considered as a treatment option for PPPD.
DESIGN: We used genome sequencing data to assess the prevalence of mutations in syndromic HH genes in an international cohort of patients with HH of unknown genetic cause.
PATIENTS: We undertook genome sequencing in 82 infants with HH without a clinical diagnosis of a known syndrome at referral for genetic testing.
MEASUREMENTS: Within this cohort, we searched for the genetic aetiologies causing 20 different syndromes where HH had been reported as a feature.
RESULTS: We identified a pathogenic KMT2D variant in a patient with HH diagnosed at birth, confirming a genetic diagnosis of Kabuki syndrome. Clinical data received following the identification of the mutation highlighted additional features consistent with the genetic diagnosis. Pathogenic variants were not identified in the remainder of the cohort.
CONCLUSIONS: Pathogenic variants in the syndromic HH genes are rare; thus, routine testing of these genes by molecular genetics laboratories is unlikely to be justified in patients without syndromic phenotypes.