Luyện nói tiếng Anh bằng Shadowing qua video: What is it? Exercise-induced episodic gait disorder in a young boy
Đang tạo bài học...
1
Welcome to What Is It?
2
A new clinical case discussion podcast series.
3
In each episode we have a real-world movement disorder case, step by step, starting with a history and examination and moving through phenomenology,
4
neuroimaging, laboratory findings and a final diagnosis.
5
In fact, What Is It takes its name from a classic section of the Middle Disorder Journal, introduced in 1986 by David Marsden and Stanley Phan,
6
a space dedicated to careful clinical observation, debate, and phenomenology-driven diagnosis.
7
In this series, by anchoring our discussions in a detailed clinical description,
8
we aim to demonstrate that phenomenology and syndromes remain central to diagnosis, even in the era of artificial intelligence.
9
The focus here isn't on getting to the answer quickly.
10
It's on making expert reasoning visible, how hypotheses are formed, revised,
11
and sometimes discarded as new information emerges.
12
I'm your host, Hugo Morales, and in this episode, I have the pleasure to discuss a case with Professor Shaqib Mohammed,
13
pediatric neurologist from the Children's Westmead Hospital and University of Sydney.
14
Shaqib, welcome.
15
Thank you, Hugo.
16
So I would like to start by reading the patient's clinical history
17
and neurological examination findings to her audience
18
and then I will ask you to describe what you see in terms of the video examination.
19
Now this is a seven-year-old boy born to non-Consanguineous parents by caesarean section with no significant perinatal events.
20
He had normal motor and developmental milestones.
21
He presented with a history of abnormal posturing of the leg induced on exertion from three years of age.
22
Initially, it involved the right side and subsequently involved the left leg.
23
He was precipitated by vigorous play and running and lasted for about 30 minutes.
24
There was no history of seizures.
25
Interestingly, his younger sibling is a five-year-old boy born by cesarean section and with normal milestones.
26
He also had similar symptoms involving both lower limbs in the last year.
27
His episodes were short-lasting and recovered in five minutes.
28
Both patients were treated with levodopa without any response.
29
And his parents were neurologically normal and there was no family history of epilepsy.
30
Now, Shikib, tell me what do you see in the video and if you can describe that to our audience.
31
Thanks for the clinical background.
32
So I've got two videos that have been provided to me.
33
One is at baseline and one is after this child has done some exercise in the form of prolonged walking.
34
So looking at the baseline video first, what I see is a young boy who is working in a clinic examination room.
35
His gait appears quite normal.
36
There may be slight asymmetry in the arm swing, but this video snippet is too small to overdraw any conclusions from the same.
37
I cannot see any extra adventitious movements.
38
I cannot see any posturing and he's walking with his feet.
39
He'll strike in a proper manner.
40
He's not toe walking.
41
So that is his baseline video and I can see good facial expression, symmetric arm movements, apart from that slightly asymmetric arm swing,
42
which I said we shouldn't draw too much emphasis on without seeing him a bit more.
43
Thank you, Hichke.
44
And you see the second part of the examination, do you see anything different from the baseline?
45
Okay.
46
So now we've got another video which is after he has been made to walk
47
and jump apparently for some time we don't know the exact duration
48
but what we can see here is
49
that his grade has dramatically changed he is walking a bit more slowly still with a relatively narrow base
50
and good balance but the main striking feature is posturing of both hands as well as his feet.
51
Slightly asymmetric in the feet, more on the right left, but compared to the left.
52
But it appears bilateral and it appears to involve the upper limbs as well.
53
So this is a change and this phenomenology, at least on the video,
54
appears to be representative of what we would call as dystonic posturing as clinicians.
55
Obviously you need to confirm that with examining his tone.
56
I'll just have a quick look again at his facial expression in this second video
57
and see if we can see anything else.
58
He was smiling in the first video.
59
He still is.
60
So again, we won't overdraw conclusion.
61
Sometimes when you're given movement disorder videos, you try to bracket everything, whether it is a dystonic smile or remissing, but I don't think we can say that.
62
But what I couldn't say is after exercise, this boy who previously had a normal gait has now got a asymmetric
63
but generalized dystonic gait and dystonic posturing of the upper limbs as well.
64
Thank you, Shakib.
65
Now I'll give you more information about his examination.
66
He had normal cognition, as per reported in the study.
67
Cranial nerves, no motor and sensor examination were unremarkable.
68
Reflexes were preserved and there were no pathological reflexes or spasticity.
69
And importantly, there were no caeser or fleischer rings.
70
Now with this information on hand, can you just build a syndrome in terms what you saw and you know about examination?
71
Okay, we have some background history.
72
We have seen the videos and now we have got this additional information.
73
Just to recap, his early history is thought to be normal and he has an onset of exercise-related dystonia, which we've seen in the video,
74
from three years of age.
75
As far as we know, this hasn't been associated with epilepsy or a cognitive decline.
76
And these are important things to note that as far as we know, he doesn't have neurodevelopmental problems, a neurodevelopmental delay, and he has not got epilepsy.
77
So what we are left with is a predominant history of episodic dystonia.
78
And then when you're confronted with that history of something that is episodic or paroxysmal,
79
then we try and see what are associations with triggers and with relieving factors.
80
So we know that with exercise these episodes come on
81
and that's been the history and that's what we have seen in the video.
82
So with the amount of information we have what I would say is
83
that it is a suggestion of paroxysmal exercised induced dystonia in a child who's otherwise intellectually normal,
84
doesn't have a history of epilepsy and has got a history of similar disorders in a younger brother.
85
Yeah, so now we have the syndrome,
86
so paroxysmal exercise and dystonia with other normal and neurological examination, but with a family history.
87
I'll give you some results on vestibulations.
88
He had a normal full blood count, including glucose, renome, and liver tests, including cerebroplasmin and pneumonia.
89
and he had also lactate that was elevated to 34 milligrams of deciliters with the maximum being 19 to 20.
90
Also, he was tested with organic amino acid profile that was reported to be normal.
91
He had a CSF where the glucose levels were also normal.
92
Now with this in mind, now that you have these results, where this syndrome is you think would be heading to?
93
What are the clues here that could help you with their diagnosis?
94
Again, we have some additive information.
95
I would just mention something I forgot is negative history.
96
So I think the time of the day when these episodes happen, any relation to fasting or not would also be important in this case.
97
Particularly things that happen early in the morning, we'd be worried, wondering about problems with glucose transport.
98
But at the same time, now that we've got the information, the CSF glucose is normal, which would make glucose transporter deficiency unlikely.
99
We also are given a blood lactate level that is high and a minor acid profile that is normal.
100
Wilson's disease can mimic many things, and we know that the absence of casia-fisher rings,
101
normal fibrilloplasmin, would make this very unlikely to be a neurological manifestation of Wilson's disease.
102
So there are some things that we think would be unlikely.
103
At the same time, I think we have to now come back
104
and see with his history what are our major differentials and has this helped us or not.
105
So with this boy's history so far and looking at the video.
106
With paroxysmal exercise-induced dyskinesia, thinking about what are the main causes that are associated.
107
These include glucose transporter deficiency and some individuals who manifest with GTP-cyclohydrolase deficiency.
108
For those disorders, glucose transporter can be ruled out with the information we've given.
109
If we do not have CSF monoamines, then we cannot rule out GTP cyclohydrogenase deficiency based on that.
110
But the absence of levodopa response would argue against that being the case.
111
Then we are left with other groups of disorders that can have exercise-induced dystonia.
112
Practically most of them would be associated with some neuroimaging changes, and they would help if we were to explore that.
113
Before we go into that, obviously the marker, the blood lactate being high, may be suggestive of some disorders that involve energy metabolism.
114
It would be more reliable if we saw an elevated CSF lactate and possibly a CSF pyruvate.
115
But that's what we are left with at the moment, that we don't think this is glucose transporter deficiency.
116
Unlikely that this is GTP cyclohydratase deficiency with the lack of levodopa response, but it could be some of the other differentials
117
that involve energy pathway metabolism or a minor acid metabolism that we may get a clue from looking at mirror imaging.
118
Yeah.
119
So I can see that you have formulated some hypotheses about the syndrome base or what the evidence that you have,
120
including the lactate, but also the negative findings from the test.
121
Now I'm going to give you the results of the brain MRI, but I'm going to ask you to describe the findings.
122
So we had the brain MRI of the Prevent and the younger sibling.
123
So can you tell us what you see here so audience can picture mentally what's happening on the brain?
124
Yes.
125
So I've been given two images.
126
These are axial T2-weighted images for the sibling and an axial T2 flare, which appears to be for the proband.
127
So looking at the proband images, remembering that this child is now in the late first decade of life,
128
we can see a hyper intense signal in both the globipallid eye.
129
And this is the area that is pointed out with the arrows.
130
At this age in the late first decade, normally the progression of MRI signal is that we all start accumulating iron.
131
And compared to the neighboring putamen, the globus pallidus should appear darker.
132
It should not appear brighter like you see in this case.
133
So that is clearly abnormal.
134
It is nearly symmetric appearing.
135
Then when we look at the younger sibling, this is also an axial image.
136
This is a T2 weighted image and you see a similar finding, possibly some cystic change at the very anterior part of the globus pallidus,
137
but you do see very symmetric hyperintensities in the globus pallidus.
138
So again, the sibling is now five years of age and at this age, this would be abnormal.
139
The globus pallidus should be similar intensity, if not a little bit darker, depending on the magnetic strength of the MRI compared to the neighboring putinian.
140
Now we have a childhood on sex proxysmal exercise in dys
141
dystonia with a normal brain MRI with a specific lesion and the pallidum.
142
Now with this combination, what are your three top differential diagnosis?
143
Yes.
144
So this narrows down our differential list significantly.
145
And if we combine the clinical presentation of this patient with the MRI,
146
the three major differentials that we are left with are monogenic disorders that lead to pyruvate B hydrogenase complex deficiency,
147
disorders that can lead to problems in valine, which is an amino acid metabolism,
148
and disorders that can lead to GABA pathway disorders, particularly one called succinic semi-aldehyde dehydrogenase deficiency.
149
So if you intersect the clinical presentation and the MRI, you're left with those three main differentials.
150
Thank you, Shikhi.
151
Now, I'm going to reveal the final diagnosis of this patient.
152
So based on whole exome sequencing,
153
the patient had two pathogenic variants on the gene of ECHH1,
154
which is mitochondrial short-chain enoil coenzyme A hydratase 1 deficiency,
155
which is a recessive disorder that can lead to this presentation.
156
The parents of this patient had a genetic analysis.
157
The first variant was observed in the mother, which is an exon 5, and the second on the father, which is the exon 1,
158
which confirms a recessive inheritance.
159
Now, I'd like to take the opportunity to give a take-home message based on what you have described to us, Chagib, is, and this is very important in clinical phenotyping,
160
but also in the clinical setting when you see these patients coming to your clinic.
161
So categorizing the pattern of paroxysmal dyskinesia based on triggers can help to generate a list of potential differential diagnosis and etiologies.
162
But also, the presence of abnormal neuroimaging findings can point to certain neurovetabolic disorders, as you pointed out.
163
One, it could be mitochondrial, but also let's not forget organic aciduria, as methylmagnolic aciduria can also have similar presentation.
164
If you're interested in more details about this case, this case was published in Annals of Indian Academy of Neurology Journal.
165
The title is Parxysmal Exercise in Dyskinesia in Siblings Due to ECHS1 Gene Mutation, First Indian Case Report.
166
Thanks again for listening and still there for the next What Is It episode.
167
Thank you very much, Shakif.
168
Thank you.
169
Thanks for having me.
170
The views
171
and opinions expressed by the participants in this podcast do not necessarily reflect those of the International Parkinson
172
and Movement Disorder Society or their affiliated journals movement disorders, and movement disorders clinical practice.
173
Any disclosures of the participants can be found within the episode description located on the MDS website.
Tại sao nên luyện nói với video này?
Luyện nói tiếng Anh qua video không chỉ giúp cải thiện khả năng phát âm tiếng anh chuẩn mà còn nâng cao khả năng hiểu biết ngữ cảnh và phản ứng nhanh chóng. Trong video này, chúng ta được xem một trường hợp lâm sàng thú vị về rối loạn đi lại ở trẻ em. Nhờ vào cách trình bày rõ ràng và chi tiết của người dẫn chương trình, người học có thể nghe được cách diễn đạt tự nhiên trong tiếng Anh, điều này rất hữu ích cho việc luyện nói tiếng Anh và áp dụng trong các tình huống thực tế. Việc theo dõi các cuộc thảo luận chuyên môn như vậy giúp bạn mở rộng từ vựng, cải thiện kiến thức ngữ pháp và phát triển kỹ năng giao tiếp hiệu quả.
Ngữ pháp & Cụm từ trong ngữ cảnh
- Cấu trúc 'to be' dành cho mô tả: "His gait appears quite normal." Câu này thể hiện cách dùng ngữ pháp để mô tả tình trạng của nhân vật.
- Cụm từ chỉ thời gian: "after this child has done some exercise." Cách sử dụng hiện tại hoàn thành để nói về các hành động diễn ra trước khi hành động hiện tại.
- Ngữ pháp so sánh: "he is walking a bit more slowly." Việc sử dụng "a bit more" để so sánh mức độ hành động giúp người học hiểu rõ hơn về cách dùng từ trong ngữ cảnh.
Các cấu trúc này không chỉ xuất hiện trong tài liệu học tập, mà còn được dùng phổ biến trong giao tiếp hàng ngày. Hãy chú ý và luyện tập để diễn đạt rõ ràng hơn khi giao tiếp.
Các cạm bẫy phát âm phổ biến
Trong video, có một số từ và cụm từ có thể gây khó khăn cho người học về phát âm tiếng anh chuẩn. Ví dụ, từ "examination" có âm cuối khó, thường gây ra sự nhầm lẫn trong cách phát âm. Bên cạnh đó, cụm từ "neurological" cũng có thể khiến người học bối rối với nhiều âm tiết.
Người học nên dành thời gian luyện tập phát âm từng từ, đặc biệt là những từ phức tạp hoặc không quen thuộc. Kỹ thuật shadow speaks có thể rất hiệu quả trong trường hợp này, vì bạn sẽ nghe và nhắc lại ngay sau khi nghe, từ đó cải thiện khả năng phản xạ và sự tự tin khi giao tiếp. Hãy nhớ rằng luyện nói tiếng Anh không chỉ đơn thuần là phát âm đúng, mà còn là việc hiểu và sử dụng ngôn ngữ trong ngữ cảnh thực tế.
Phương Pháp Shadowing Là Gì?
Shadowing là kỹ thuật học ngôn ngữ có cơ sở khoa học, ban đầu được phát triển cho chương trình đào tạo phiên dịch viên chuyên nghiệp và được phổ biến rộng rãi bởi nhà đa ngôn ngữ học Dr. Alexander Arguelles. Nguyên lý cốt lõi đơn giản nhưng cực kỳ hiệu quả: bạn nghe tiếng Anh của người bản xứ và lặp lại to ngay lập tức — như một "cái bóng" (shadow) đuổi theo người nói với độ trễ chỉ 1–2 giây. Khác với luyện ngữ pháp hay học từ vựng bị động, Shadowing buộc não bộ và cơ miệng phải đồng thời xử lý và tái tạo ngôn ngữ thực tế. Các nghiên cứu khoa học xác nhận phương pháp này cải thiện đáng kể phát âm, ngữ điệu, nhịp điệu, nối âm, kỹ năng nghe và độ lưu loát khi nói — đặc biệt hiệu quả cho người luyện IELTS Speaking và muốn giao tiếp tiếng Anh tự nhiên như người bản ngữ.