Long-term anatomical and functional outcomes of surgical treatment of retinal complications in children and adolescents with Stickler syndrome between 2004 and 2021.

BACKGROUND: Stickler syndrome (STL) is an inherited progressive connective tissue collagen disorder. STL is the most common hereditary cause of retinal complications, retinal tears, and the development of retinal detachment (RD) in childhood. The aim of the study was to evaluate the long-term anatomical and functional results of surgical treatment of retinal complications in children and adolescents affected by STL. METHODS: A retrospective, single-center study was performed a cohort of children with STL who underwent retinal surgery between 2004 and 2021. RESULTS: The study group consisted of nine children; the mean age at the time of the retinal tear with/without retinal detachment was 7.2 (2-10) years, and the mean follow-up period was 9.6 (5-16) years. Pathogenic variants COL2A1 (5 children) and COL11A1 (3 children) were confirmed in our cohort. In total, we operated on 13 eyes, 11 eyes with complicated RD and two eyes with multiple retinal defects, but without RD. At the end of the follow-up period, an attached retina was achieved 77% (10 eyes) with or without silicone oil tamponade: cryopexy alone was successful in one eye (10%), scleral buckling (EB) in five eyes (50%), and vitrectomy with silicone oil tamponade combined with EB in four eyes (40%). The mean number of surgeries was 2.3 per eye. The resulting best corrected visual acuity ranged from 0.03 to 0.1 in one eye, from 0.16 to 0.4 in two eyes, and from 0.5 to 1.0 in 7 eyes. CONCLUSION: Repair of retinal tears with/without retinal detachment in patients with Stickler syndrome often requires multiple surgeries with combinations of cryopexy, scleral buckling, and/or vitrectomy with silicone oil tamponade. Treatment of the ocular complications arising from STL requires long-term comprehensive care.

Speech Perception and Production in Cochlear Implant Recipients with Pendred Syndrome.

AIMS: Patients with the Pendred syndrome suffer very often from a hearing loss. They may be good candidates for a cochlear implantation, but unfortunately, due to the fluctuating character of the hearing loss, they may escape such indication. In the study, we compared speech production and speech acquisition in 2 groups of implanted patients: those with the Pendred syndrome, and standard non-syndromic patients. METHODS: Ten patients with Pendred syndrome were analyzed for speech perception and production. The control group consisted of 41 non-syndromic implanted patients. All implantees were scored according to speech perception, speech production, and the sum of both. The data were statistically analyzed. RESULTS: No statistical difference was found in language acquisition and production in implantees with Pendred syndrome when compared to non-syndromic patients with cochlear implants. Nor there was any difference in speech production and acquisition between the 2 compared groups regarding surgical age, time elapsed after surgery, or age during the testing. CONCLUSION: In this study evaluating language and speech production and acquisition, patients with Pendred syndrome who underwent cochlear implants show comparable results to their implanted peers with deafness of a different etiology.

The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languages.

PURPOSE: Genetic advances mean patients at risk of genetic conditions can be helped through testing, clinical screening, and preventive treatment, but they must first be identified to benefit. Ensuring quality of genetic care for patients requires genetic expertise in all health services, including primary care. To address an educational shortfall, a series of e-learning resources was developed in six languages to equip primary care professionals with genetic skills relevant for practice. The purpose of the study was to evaluate these resources using Kirkpatrick's framework for educational outcomes. METHODS: Mixed methods (qualitative and quantitative) were used over four phases of the study. RESULTS: A high level of satisfaction with the resources was reported. Knowledge and skills improved significantly after using the education material. Participants reported changes in confidence and practice behavior, including family history taking, seeking advice from specialists and referring patients. The resources helped users to learn how to explain genetics. Many visited the resources repeatedly and some used them to educate colleagues or students. CONCLUSION: Gen-Equip modules are effective in improving genetic knowledge, skills, and attitudes for primary care professionals. They provide both continuing professional development and just-in-time learning for a potentially large global audience at a practical level.

Correction: The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languages.

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