Pitfalls in the diagnosis of acoustic neuroma

Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/71894/1/j.1365-2273.1984.tb01490.x.pd

The Efficacy of Auditory Perceptual Training for Tinnitus: A Systematic Review

Auditory perceptual training affects neural plasticity and so represents a potential strategy for tinnitus management. We assessed the effects of auditory perceptual training on tinnitus perception and/or its intrusiveness via a systematic review of published literature. An electronic database search using the keywords ‘tinnitus and learning’ or ‘tinnitus and training’ was conducted, updated by a hand search. The ten studies identified were reviewed independently by two reviewers, data were extracted, study quality was assessed according to a number of specific criteria and the information was synthesised using a narrative approach. Nine out of the ten studies reported some significant change in either self-reported or psychoacoustic outcome measures after auditory training. However, all studies were quality rated as providing low or moderate levels of evidence for an effect. We identify a need for appropriately randomised and controlled studies that will generate high-quality unbiased and generalisable evidence to ascertain whether or not auditory perceptual training has a clinically relevant effect on tinnitus

Diagnosis and management of Cornelia de Lange syndrome:first international consensus statement

Cornelia de Lange syndrome (CdLS) is an archetypical genetic syndrome that is characterized by intellectual disability, well-defined facial features, upper limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by variants in any one of seven genes, all of which have a structural or regulatory function in the cohesin complex. Although recent advances in next-generation sequencing have improved molecular diagnostics, marked heterogeneity exists in clinical and molecular diagnostic approaches and care practices worldwide. Here, we outline a series of recommendations that document the consensus of a group of international experts on clinical diagnostic criteria, both for classic CdLS and non-classic CdLS phenotypes, molecular investigations, long-term management and care planning