التفاصيل البيبلوغرافية
| العنوان: |
Which Came First? When Usher Syndrome Type 1 Couples with Neuropsychiatric Disorders. |
| المؤلفون: |
Tesolin, Paola, Santin, Aurora, Morgan, Anna, Lenarduzzi, Stefania, Rubinato, Elisa, Girotto, Giorgia, Spedicati, Beatrice |
| المصدر: |
Audiology Research; Dec2023, Vol. 13 Issue 6, p989-995, 7p |
| مصطلحات موضوعية: |
USHER'S syndrome, NEUROBEHAVIORAL disorders, SENSORINEURAL hearing loss, MENTAL illness, BIPOLAR disorder, VESTIBULAR apparatus diseases |
| مستخلص: |
Usher syndrome (USH) is an autosomal recessive disorder characterized by sensorineural hearing loss (HL), retinopathy, and vestibular areflexia, with variable severity. Although a high prevalence of behavioural and mental disorders in USH patients has been reported, few studies on these psychiatric and psychological issues have been conducted. This work describes the case of a 16-year-old boy affected by congenital bilateral sensorineural HL, presenting a suddenly altered behaviour concomitant with a decrease in visual acuity. To establish a molecular diagnosis, Whole-Exome Sequencing analysis was performed, detecting a pathogenetic homozygous variant (c. 5985C>A, p.(Tyr1995*)) within the CDH23 gene. CDH23 is a known USH type 1 causative gene, recently associated with schizophrenia-like symptoms and bipolar disorders. To date, no studies have provided evidence of a direct genotype–phenotype correlation between USH patients carrying CDH23 variants and mental/behavioural issues; however, considering the multiple biological functions of CDH23, it can be hypothesised that it could have a pleiotropic effect. Overall, this study highlights the relevance of a continuous clinical evaluation of USH patients, to monitor not only the disease progression, but to early detect any psychological or behavioural alterations, thus allowing a rapid implementation of therapeutic strategies aimed at improving their quality of life and well-being. [ABSTRACT FROM AUTHOR] |
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| قاعدة البيانات: |
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