PU¶PubMed·Journal article·Research (general)·33y agoTPK1 -Related Thiamine Metabolism Dysfunction SyndromeAwareness of rare metabolic disorders like TPK1 deficiency is important for audiologists who may be among the first clinicians to identify unexplained hearing loss in children with underlying syndromic or metabolic etiologies.
PU¶PubMed·Journal article·Pediatric·33y agoCornelia de Lange SyndromeAudiologists seeing patients with CdLS should be aware of associated hearing loss (conductive, sensorineural, or mixed) and ensure regular audiological monitoring is part of the multidisciplinary care plan; no new clinical guidance beyond standard syndromic hearing loss...＋Save
PU¶PubMed·Journal article·Research (general)·33y agoANKRD11 -Related KBG SyndromeAudiologists seeing patients with KBG syndrome should be aware that hearing loss (both conductive and sensorineural) is a recognised feature; however, this GeneReviews reference article does not introduce new clinical guidance that would change current audiological management.＋Save
PU¶PubMed·Journal article·Research (general)·33y agoUsher Syndrome Type IAudiologists seeing pediatric patients with congenital severe-to-profound sensorineural hearing loss should be aware of Usher Syndrome Type I as a differential and refer for ophthalmologic evaluation and genetic testing; no new practice change is introduced by this reference...＋Save
PU¶PubMed·Journal article·Research (general)·33y agoEBP- Related X-Linked Chondrodysplasia PunctataAudiologists seeing patients with this rare genetic syndrome should include hearing assessment in the multidisciplinary workup, but this GeneReviews reference entry introduces no new clinical guidance beyond established genetic counseling practice.＋Save
PU¶PubMed·Journal article·Research (general)·33y agoOTOF -Related Hearing LossAudiologists should recognise the OTOF/otoferlin auditory synaptopathy profile — normal OAEs with absent/abnormal ABR — as a distinct entity guiding genetic referral and cochlear implant candidacy evaluation; no change to standard CI protocols is required pending emerging...＋Save
PU¶PubMed·Journal article·Clinical audiology·33y agoBeta-MannosidosisAudiologists evaluating children with unexplained sensorineural hearing loss (damage to the inner ear or hearing nerve) and developmental or speech delay should be aware of Beta-Mannosidosis as a rare differential diagnosis warranting metabolic genetics referral.＋Save
PU¶PubMed·Journal article·Research (general)·33y agoGeneralized Arterial Calcification of InfancyAwareness of rare vascular genetic conditions like GACI is marginally relevant to audiologists only insofar as undiagnosed vascular pathology could contribute to unexplained sensorineural hearing loss in paediatric patients.＋Save
