Neurodevelopmental Profile in Children Affected by Ocular Albinism
| Autor: | Giulio Ruberto, Jessica Galli, Alessandra Morandi, Andrea Rossi, Vera Scaglioni, Erika Loi, Francesco Semeraro, Elisa Fazzi, Nadia Pasini, Anna Molinaro |
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| Jazyk: | angličtina |
| Rok vydání: | 2022 |
| Předmět: |
Ocular albinism
medicine.medical_specialty Visual acuity Language delay Neurological examination autism spectrum disorder Audiology 03 medical and health sciences 0302 clinical medicine Medicine Humans Evoked potential Eye Proteins ocular albinism Retrospective Studies Membrane Glycoproteins medicine.diagnostic_test business.industry GPR143 gene mutations Cognition General Medicine medicine.disease Albinism Ocular neurodevelopmental profile Autism spectrum disorder Child Preschool Pediatrics Perinatology and Child Health 030221 ophthalmology & optometry Evoked Potentials Visual Observational study Neurology (clinical) medicine.symptom business 030217 neurology & neurosurgery |
| Popis: | Aim The aim of this study was to detail the neurodevelopmental profile of subjects affected by ocular albinism (OA) and to collect data on GPR143 gene analysis. Design The design of the study involves a retrospective longitudinal observational case series. Methods We collected data on the neurodevelopmental profile of 13 children affected by OA from clinical annual assessments conducted for a period of 6 years after the first evaluation. We described visual profile, neuromotor development and neurological examination, cognitive profile, communication and language skills and behavioral characteristics. The GPR143 gene analysis was performed as well. Results Children presented a variable combination of ocular and oculomotor disorders unchanged during the follow-up, a deficit in visual acuity and in contrast sensitivity that progressively improved. Abnormalities in pattern visual evoked potential were found. No deficits were detected at neurological examination and neuromotor development except for a mild impairment in hand-eye coordination observed in five cases. A language delay was observed in five cases, two of whom had also a developmental quotient delay at 2 years evolving to a borderline/deficit cognitive level at preschool age, difficulties in adaptive behavior and autistic-like features were found. Mutations in the GPR143 gene were identified in the two patients who presented the most severe clinical phenotype. Conclusion Children with OA may share, in addition to a variable combination of ocular signs and symptoms, a neurodevelopment impairment regarding mostly the cognitive, communicative, and social area, especially those with GPR143 mutation. |
| Databáze: | OpenAIRE |
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