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Các kiểu hình hành vi thần kinh của bệnh mucopolysaccharidoses thần kinh
Tóm tắt
Mucopolysaccharidoses (MPS) là một nhóm bệnh mãn tính, tiến triển đa hệ lysosomal đặc trưng bởi sự tích tụ của glycosaminoglycans (GAGs) có thể ảnh hưởng đến hệ thần kinh trung ương. Các dạng MPS có tổn thương thần kinh như MPS IH, MPS II, MPS IIIA–D và MPS VII được đặc trưng bởi sự thoái lui về nhận thức thần kinh. Trong MPS loại I nặng (MPS IH, hay hội chứng Hurler), quỹ đạo phát triển ban đầu thường không có gì nổi bật nhưng sự phát triển nhận thức có một giai đoạn ổn định từ 2 đến 4 tuổi và sau đó tiến triển thoái lui cùng với tuổi tác. Bệnh nhân mắc MPS II có tổn thương thần kinh thường đạt mức ổn định về phát triển nhận thức và phát triển thích nghi trung bình từ 4 đến 4.5 tuổi, mặc dù có sự dao động lớn, sau đó theo sau là sự suy giảm nhận thức tiến triển. Trong bệnh nhân mắc MPS III cổ điển, quỹ đạo phát triển đạt mức ổn định khoảng 3 tuổi, sau đó tiến hành thoái lui. Rối loạn giấc ngủ và các vấn đề về hành vi xảy ra sớm trong MPS II và III với các đặc điểm của các rối loạn hành vi bên ngoài. Hành vi giống như tự kỷ thu được thường được quan sát ở trẻ em mắc MPS III sau 4-6 tuổi. Sự suy giảm khả năng xã hội và giao tiếp có xảy ra, nhưng trẻ em mắc MPS III không có sở thích hạn chế và lặp đi lặp lại như trong rối loạn phổ tự kỷ. MPS loại VII là một dạng MPS thần kinh cực kỳ hiếm với phổ lâm sàng rộng từ rất nặng với tỷ lệ tử vong sớm đến các kiểu hình nhẹ hơn với tuổi thọ lâu hơn vào giai đoạn thanh thiếu niên và người lớn. Hầu hết bệnh nhân mắc MPS VII đều có khuyết tật trí tuệ và phát triển lời nói bị chậm trễ nghiêm trọng, thường kết hợp với suy giảm thính lực. Sự thoái lui nhận thức trong các MPS thần kinh diễn ra song song với sự giảm đáng kể về thể tích mô não. Đánh giá hồ sơ phát triển là một thách thức do khả năng nhận thức yếu, khuyết tật thể chất và rối loạn hành vi. Việc chẩn đoán sớm là rất quan trọng vì các phương pháp điều trị hứa hẹn khác nhau đã được nghiên cứu rộng rãi trong các mô hình MPS động vật và hiện đang được áp dụng trong các thử nghiệm lâm sàng.
Từ khóa
#Mucopolysaccharidoses #Bệnh lý thần kinh #Phát triển nhận thức #Khuyết tật trí tuệ #Rối loạn hành viTài liệu tham khảo
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