UNASSIGNED: Sensorineural hearing impairment (SNHI), a common childhood disorder with heterogeneous genetic causes, can lead to delayed language development and psychosocial problems. Next-generation sequencing (NGS) offers high-throughput screening and high-sensitivity detection of genetic etiologies of SNHI, enabling clinicians to make informed medical decisions, provide tailored treatments, and improve prognostic outcomes.
UNASSIGNED: This review covers the diverse etiologies of HHI and the utility of different NGS modalities (targeted sequencing and whole exome/genome sequencing), and includes HHI-related studies on newborn screening, genetic counseling, prognostic prediction, and personalized treatment. Challenges such as the trade-off between cost and diagnostic yield, detection of structural variants, and exploration of the non-coding genome are also highlighted.
UNASSIGNED: In the current landscape of NGS-based diagnostics for HHI, there are both challenges (e.g. detection of structural variants and non-coding genome variants) and opportunities (e.g. the emergence of medical artificial intelligence tools). The authors advocate the use of technological advances such as long-read sequencing for structural variant detection, multi-omics analysis for non-coding variant exploration, and medical artificial intelligence for pathogenicity assessment and outcome prediction. By integrating these innovations into clinical practice, precision medicine in the diagnosis and management of HHI can be further improved.

Alström syndrome is a form of inherited obesity caused by a single gene abnormality and is inherited as an autosomal recessive trait. It is characterised by a variety of clinical manifestations, including progressive visual and hearing impairment, type 2 diabetes mellitus, dilated cardiomyopathy, and hepatic and renal dysfunction, in addition to obesity. Recent insights underline the pivotal involvement of the disease-associated gene (ALMS1) in cilia formation and function, leading to the classification of its clinical manifestations as a ciliopathy. This review delineates the diverse clinical indicators defining the syndrome and elucidates its pathological underpinnings.

Objective: To report 2 cases of superficial siderosis of central nervous system (SS-CNS) and a review of the literature. Methods: We have analyzed the clinical data and relevant features of two patients with SS-CNS who were presented with ataxia and slurred speech. Both patients undertook blood tests, lumbar puncture, head CT (computer tomography) scans, and brain and spinal cord magnetic resonance (MR) scans. In addition, the first patient also undewent enhanced susceptibility-weighted angiography (ESWAN) and the second patient undertook susceptibility weighted imaging (SWI) scan. We searched PubMed with the keywords superficial siderosis and superficial siderosis of central nervous system, and selected publications that seemed appropriate. Results: A neurological examination revealed bilateral sensorineural hearing impairment in both the patients. Their past history was not significant to identify hemorrhage. Brain MR scans demonstrated typical hypointensity rimming at the brain surface on T2 weighted images. The patients were diagnosed with SS-CNS. Conclusion: SS-CNS should be highly suspected in patients with progressive sensorineural hearing loss, ataxia, and signs of pyramidal tracts, and MR scans of brain and whole spinal cord should be undertaken to confirm the diagnosis. Advanced MRI techniques such as SWI and ESWAN are helpful in making the diagnosis of SS-CNS. The cause of hemorrhage is not identified in most cases.

Pontine tegmental cap dysplasia is a rare hindbrain malformation syndrome with a hypoplastic pons, a tissue protrusion into the fourth ventricle, and cranial nerve dysfunction. We here report clinical, imaging, and genetic findings of the first extremely low-birth-weight preterm infant with pontine tegmental cap dysplasia born at 25 weeks of gestation and provide an overview of 29 sporadic cases. A prenatally diagnosed hypoplastic and rostrally shifted cerebellum was indicative of a hindbrain defect and later identified as an early sign of pontine tegmental cap dysplasia in our patient. The neonate exhibited severe muscle hypotonia, persistent thermolability, and clinical signs of an involvement of facial, cochlear, and hypoglossal nerves. Furthermore, paroxysmal episodes of agonizing pain with facial tics, tonic and clonic muscle contractions, blepharospasm, and singultus are highlighted as new phenotypic features of pontine tegmental cap dysplasia. With our report, we present a severe case of pontine tegmental cap dysplasia and provide a brief overview of current knowledge on this rare disease.

Childhood hearing impairment is a significant problem, associated with long-term academic, communicative and physical impairments. Studies have shown that children with hearing loss also present with balance and/or vestibular deficits along with complain of frequent falls. Various interventions have been studied to improvise postural control and balance in these children on different outcome measures. This review will provide the existing evidence on interventions to improve vestibular and/or balance functions. Three trials met our study criteria with PEDro score ≥6, and data were extracted, entered by two independent review authors. Though there was variability with regard to the focus and intensity of the intervention, subject characteristics and in outcome measures, vestibular rehabilitation has a positive influence on functional independence. Heterogeneity in the studies limits the comparisons of intervention programmes. We conclude that there was considerable evidence for a positive effect on balance outcomes among the hearing-impaired population with vestibular deficits. Further investigations of high-quality studies are needed to determine to compare interventions for improving vestibular deficits in hearing-impaired children.