Nội dung được dịch bởi AI, chỉ mang tính chất tham khảo
Mô hình hóa Biểu hiện Hội chứng Tự kỷ
Tóm tắt
Rối loạn phổ tự kỷ (ASD) có tính di truyền cao, và mặc dù đã có nhiều nghiên cứu tích cực nhằm tìm ra các yếu tố di truyền liên quan đến ASD, chẩn đoán vẫn chủ yếu phụ thuộc vào các đánh giá hành vi. Gần đây, một số sáng kiến quy mô lớn, bao gồm cả những sáng kiến từ Hiệp hội Tự kỷ, đã góp phần thu thập thông tin phong phú từ các gia đình bị ảnh hưởng bởi ASD. Mục tiêu của chúng tôi là phát triển một ngữ nghĩa học có thể được sử dụng 1) để cung cấp quyền truy cập tốt hơn vào dữ liệu được thu thập bởi những người nghiên cứu ASD và các rối loạn phát triển thần kinh khác, và 2) để đánh giá và so sánh các đặc điểm của các công cụ được sử dụng trong việc đánh giá ASD. Chúng tôi đã phân tích hai chục công cụ được sử dụng để đánh giá ASD, nghiên cứu bản chất của các câu hỏi được đặt ra và các mục được đánh giá, phương pháp thực hiện, và phạm vi tổng thể của nội dung. Những dữ liệu này cùng với tài liệu phong phú về ASD đã đóng góp vào quá trình phát triển vòng lặp ngữ nghĩa học biểu hiện ASD của chúng tôi. Ngữ nghĩa học cuối cùng bao gồm 283 khái niệm được phân phối trên ba lớp cao cấp, ‘Đặc điểm cá nhân’, ‘Năng lực xã hội’ và ‘Lịch sử y tế’. Ngữ nghĩa học này được tích hợp hoàn toàn với cơ sở dữ liệu của Hiệp hội Tự kỷ, cho phép các nhà nghiên cứu đặt ra các câu hỏi dựa trên ngữ nghĩa học. Ngữ nghĩa học cũng cho phép các nhà nghiên cứu đánh giá mức độ trùng lặp giữa một tập hợp các công cụ ứng cử viên theo nhiều tiêu chí khách quan. Ngữ nghĩa học biểu hiện ASD có triển vọng trong việc sử dụng trong các bối cảnh nghiên cứu nơi đã thu thập được dữ liệu kiểu hình phong phú, cho phép tiếp cận dựa trên khái niệm để xác định các đặc điểm hành vi quan trọng và để tương quan chúng với dữ liệu kiểu gen.
Từ khóa
#Rối loạn phổ tự kỷ #ngữ nghĩa học #nghiên cứu #kiểu hình #đánh giá hành vi.Tài liệu tham khảo
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