ฝึกพูดภาษาอังกฤษด้วยเทคนิค Shadowing จากวิดีโอ: What is it? A young boy with deafness and twisting limb movements
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Welcome to What Is It?, a clinical case discussion podcast series.
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In each episode, we dissect a real-world movement disorder case, step-by-step, starting with a history and examination and moving through phenomenology,
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neuroimaging, laboratory findings, and a final diagnosis.
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The focus here is not on getting to the answer quickly.
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It's on making expert reasoning visible, how hypotheses are formed, revised, and sometimes discarded as new information emerges.
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I'm your host, Hugo Morales, and in this episode, I'm discussing a candidate with Associate Professor Highway Tan,
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Movie Disorder Specialist at the University of Malaya in Kuala Lumpur.
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Highway, thank you for coming today.
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Thank you very much for inviting me, Hugo.
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It's a pleasure having you here.
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Now, I will start by reading the patient's clinical history and neurological examination findings to our listeners.
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And then I will ask you to describe the phenomenology of the patient's video.
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Now, let's go to the case.
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This is a 21-year-old right-handed Filipino male who presented with a
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progressive writing difficulty due to hand twisting starting at the age of 14, followed by involuntary neck movements shortly after the hand.
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Despite these, he finished school and was able to participate in sports.
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At the age of 18, he developed involuntary jaw movements.
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His prenatal and early developmental history was normal.
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His older brother also had some problems with hearing as this patient had and developed abnormal limb posturing at age 16.
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So overall, this is a patient that presented progressive writing difficulties, neck and then jaw, in the context of hearing loss.
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There's no history of tremor, Parkinsonism, dystonia, or dementia in the family for at least the last three generations.
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Their maternal grandmother was from Panay, the Philippines, but she had no relatives with dystonia or Parkinsonism.
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And the examination of this patient showed a normal mental function.
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He had a MoCA test score of 12 out of 30 and a mental of 22 out of 30.
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The eye movements were normal.
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Motor strain power is normal as well as reflexes and sensor examination.
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He had normal fundoscopic examination.
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However, there was a profound bilateral sensory neuronal hearing loss.
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Now let's go to the video highway.
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What do you think what we seen in the video and can you describe the phenomenology for us, please.
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Yeah, thank you very much for sharing this interesting case, Hugo.
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So when we see it in this video,
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when seated at rest, this young man had a sustained abnormal posture and movement involving predominantly his upper body.
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These movements are patterned and repetitive,
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some with a twisting nature and some especially the neck and the upper lean movements worsened with involuntary action.
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Based on this, the main phenomenology we see in this video here is dystonia.
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Now on a closer look, we see this young man also has a jaw-opening oral mandibular dystonia.
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He has a cervical dystonia characterized by an anticholus and in some segments of the video, a right tauticholist as well.
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His right upper limb seems to be hyperextended at the elbow with dystonic posturing of his fingers,
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while his left upper limb is flexed at the elbow and hyperextended at the wrist,
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with his left hand mainly in a fisted position in most segments.
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His left upper limb movement, I must say, is somewhat less predictable at times
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and also irregular compared to the other movements we see in other parts of the body.
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And this is especially so at the proximal joint or the shoulder joint.
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And when we also start thinking of a possible choreobalistic movement here,
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and I think that further examination of the left upper limb will be warranted as well.
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But taken together, the main phenomenology that we see in this young man is dystonia,
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predominantly involving the lower face, the neck, and both the upper lins.
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Thank you, Haiwei.
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Now, thinking about the distribution of dystonia and when you're mentioning about the oromandibular dystonia,
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so what are you thinking in a 21-year-old with oromandibular dystonia?
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What evocative diagnostic pathways would you think in these cases?
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Yeah, certainly the body distribution of dystonia is an important note.
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Here we see a predominant upper body involvement with very prominent oral mandibular dystonia.
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Now there are several conditions that can present with very prominent oral mandibular dystonia.
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Acquired causes like Cardiff dystonia can also present with oral mandibular dystonia and let's not forget that.
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But there are quite a long list of genetic disorders that can present with prominent oral mandibular dystonia.
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And I want to first mention the treatable Wilson's disease.
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Let's not forget this in this context.
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Secondly is also the neurodegenerative brain ion accumulation disorders such as PECAN
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and then also inborn error of metabolism such as GM1 gangliocytosis and also glutaric aciduria.
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Now we also need to consider other genetic dystonias that can commonly present with predominant oral mandibular dystonia involvement including KMT2B,
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BRKRA, TAC1, ATP1, A3 and VBS16.
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Now, not to forget X-linked dystonia Parkinsonism.
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Here, I'm particularly mentioning this because in the history, we were told that the maternal grandmother is from Penne,
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Philippines, and we know that X-linked dystonia Parkinsonism
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or XDP is an X-linked dystonia where it has been exclusively described among male individuals from Penne.
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However, in XDP, usually they present at an older age of onset,
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probably early to mid-adulthood, and they do not present with deafness,
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such as in this case where the patient also has early childhood onset deafness.
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I like your approach with the differential diagnosis based on the phenomenology.
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And before moving to the results of the first line investigations, the presence of these symptoms,
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the distribution, the family history, this is something that straightforward makes you think of this is most likely genetic as opposed to acquire.
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And perhaps this is relevant in the context of any patient with dystonian deafness.
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One of the most common things of this combination is ketnictures.
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This patient that didn't have any history of that.
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Now we're heading into this genetic diagnostic category.
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I'm going to give you the results of the investigations that can help you to delineate what your differential diagnosis.
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The liver, renal, and hematological tests were normal.
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Seroloplasmin and copper were normal.
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Alpha-fetoprotein was normal.
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He had a brain MRI that was reported to be normal, and this is the case in the report.
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Additional investigations include nerve conduction studies with electromyography, which were also normal.
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An EEG and auditory evoked potentials showed absent responses bilaterally.
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So this is something that supports your diagnosis or the deafness.
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Now you have this construct of your syndrome with negative or normal investigations.
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What then is the next step to support your diagnostic hypothesis?
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What test would you like to request in this case?
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Yeah, thanks very much, Hugo.
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Maybe we can probably discuss a little bit more about the approach to this case.
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Besides looking at the body distribution of the dystonia,
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I think you have mentioned age of onset and family history is quite important.
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And here we have an adolescent onset case with a positive
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family history with an older brother having the same deathless dystonia syndrome, making a genetic cause more likely.
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Now, when it comes to the family pedigree, it looks like the syndrome only affected one single generation in this family.
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And this might indicate an autosomal recessive pattern of inheritance or autosomal dominant with reduced penetrance.
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Or as both affected individuals are male, then X-link disorders need to be also considered.
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Now, an important note to look out for in a family pedigree for X-link disorders is
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that there should not be any male-to-male transmission, or i.e. the father passing the genetic traits to the son in the family.
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And if we think about X-link related disorder that cause deafness dystonia syndrome,
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we are thinking about Maltronavir syndrome or another hypomyelinating disorder such as BPA disorder,
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which can present with very severe intellectual disability.
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Now, besides the age of onset and family history and body distribution in dystonia,
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it's always very important to look for other associated features such as other movement disorders such as Parkinsonism or myoclonus,
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the presence of developmental delay,
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learning difficulty or cognitive decline or epilepsy as well as vision and hearing loss in the dystonia cases we see in clinic.
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And in this case, patient did have a combined dystonia.
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And here we are looking at a deafness dystonia syndrome.
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As you have mentioned, it's important to make sure this is not an acquired cause,
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like a perinatal insult, such as hypoxic ischemic injury, conicterus or neonatal infection in the past.
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And then we can also look for any presence of facial dysmorphism
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that may suggest other deafness dystonia syndrome such as ACTB disorder.
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The other group of diagnosis related to deafness dystonia syndrome will be our mitochondrial disorders or inborn error metabolism such as mectal,
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methamalamic acidemia, as well as LAR2.
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And these patients sometimes can have fluctuations in their mortal conditions, recurrent encephalopathy, for example.
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And I think this is an important point to look out for.
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And also not to forget the Woodhouse-Sakati syndrome that presents with alopecia diabetes as well.
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So I think that in terms of the investigation, The first step will definitely be to have an MRI brain of the patient.
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And you mentioned that the MRI brain is normal.
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And this is really quite helpful.
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As I think that as we have mentioned in our differential diagnosis, it's very important to rule out mineral deposition disorders,
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copper or iron, as well as to make sure that we didn't miss a hypomyelination signs in the brain
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and also basal ganglion lesions that are associated with mitochondrial or inbound error of metabolism.
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I think it's also very important to always make sure
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that we have done a Wilson screen and your cereloplasmin result is negative.
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So taken together with this investigation,
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a good next step will probably be considering genetic testing in men.
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Now I'll give you some results.
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In genetic testing, both brothers were negative for the disease's specific exline dystonia Parkinsonism haplotype.
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So that was exclude.
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And sequencing or a gene, which is a team MM8A,
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revealed adenine 2-1 intransition occurring in the first nucleotide of exome 1.
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This mutation was not present in the exome aggregation consortium.
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So it was considered to be pathogenic.
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So therefore, they confirm the diagnosis of the more tronic gerf syndrome.
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And here the takeoff message is that within the syndrome of deft and dystonia,
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this can be acquired genetic and the genetic etiologies can have further syndromic associations, including the dementia, cognitive decline,
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imaging abnormalities, serum biomarkers, and systemic signs.
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This case was taken from Mood Disorder Clinical Practice.
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The title is the first report of a Filipino with Moth-Tanichirp syndrome in 2015.
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Thank you very much, Highway, for helping us to discuss this case and highlighting the approach of this syndrome.
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And to our listeners, hope to see you the next time in the next case.
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Thank you very much.
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The views
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and opinions expressed by the participants in this podcast do not necessarily reflect those of the International Parkinson
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and Movement Disorders Society or their affiliated journals, Movement Disorders and Movement Disorders Clinical Practice.
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Any disclosures of the participants can be found within the episode description located on the MDS website.
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you
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เกี่ยวกับบทเรียนนี้
ในบทเรียนนี้ ผู้เรียนจะได้ฝึกฟังและพูดตาม (shadowing) ผ่านเคสคลินิกที่น่าสนใจเกี่ยวกับเด็กชายที่มีปัญหาทางการเคลื่อนไหวและการได้ยิน โดยเฉพาะอย่างยิ่งจะได้เรียนรู้คำศัพท์เฉพาะทางด้านการแพทย์และจิตวิทยา รวมถึงเข้าใจวิธีการสื่อสารในเรื่องที่ซับซ้อนและยากต่อการเข้าใจ ซึ่งจะช่วยให้ผู้เรียนสามารถปรับปรุงการออกเสียงภาษาอังกฤษและพัฒนาทักษะในการพูดได้ดีขึ้น
คำศัพท์และวลีสำคัญ
- dystonia (ดีสโทเนีย) - ความผิดปกติในการเคลื่อนไหวที่ทำให้เกิดท่าทางและการเคลื่อนไหวที่ไม่พึงประสงค์
- jaw movements (การเคลื่อนไหวของขากรรไกร) - การเคลื่อนไหวที่เกิดขึ้นโดยไม่ตั้งใจซึ่งอาจส่งผลกระทบต่อการพูด
- neurological examination (การตรวจสอบระบบประสาท) - การตรวจสอบเบื้องต้นเพื่อค้นหาปัญหาทางการแพทย์
- phenomenology (ปรากฏการณ์วิทยา) - การศึกษาเกี่ยวกับประสบการณ์การเคลื่อนไหวและอาการต่าง ๆ
- normal mental function (การทำงานของจิตใจปกติ) - สถานะที่บ่งบอกว่าความสามารถด้านจิตใจอยู่ในระดับปกติ
- hearing loss (การสูญเสียการได้ยิน) - ปัญหาที่เกี่ยวกับการได้ยินเสียง
- upper limb movement (การเคลื่อนไหวของแขน) - การเคลื่อนไหวที่เกี่ยวข้องกับแขนและมือ
เคล็ดลับการฝึก
สำหรับการฝึกพูดตามในบทเรียนนี้ ผู้เรียนควรเล่นวิดีโอในความเร็วปกติ และฝึกปฏิบัติตามเสียงพูดของผู้บรรยายอย่างละเอียด โดยให้ความสำคัญกับโทนเสียงและจังหวะของการพูด เพื่อให้สามารถจับใจความและสื่อสารได้อย่างมั่นใจมากขึ้น ขณะที่ทำการฝึกชาโดว์อิ้งภาษาอังกฤษ ควรแยกแยะเพื่อเข้าใจแต่ละคำและวลี โดยพยายามพูดตามพร้อมกัน เพื่อการพัฒนาการออกเสียงภาษาอังกฤษให้ดีขึ้น การใช้วิธีนี้บ่อย ๆ จะทำให้ฝึกพูดภาษาอังกฤษได้อย่างราบรื่นและเป็นธรรมชาติมากขึ้น
ไวยากรณ์ในวิดีโอนี้
โครงสร้างที่ผู้พูดใช้บ่อยที่สุด พร้อมคำพูดจริงจากวิดีโอ:
| โครงสร้าง | ในวิดีโอ |
|---|---|
| Passive voice be + กริยาช่อง 3 — เน้นสิ่งที่เกิดขึ้น ไม่ใช่ผู้กระทำ | are formed · are patterned · be hyperextended |
| Present perfect have/has + กริยาช่อง 3 — เหตุการณ์ในอดีตที่ยังเกี่ยวข้องกับปัจจุบัน | has been · have mentioned · have done |
| Relative clauses who / which + อนุประโยค — ข้อมูลเพิ่มเติมเกี่ยวกับคนหรือสิ่งของ | electromyography, which were · gene, which is |
เทคนิค Shadowing คืออะไร?
Shadowing เป็นเทคนิคการเรียนรู้ภาษาที่ได้รับการรับรองทางวิทยาศาสตร์ พัฒนาขึ้นสำหรับการฝึกนักแปลมืออาชีพ วิธีการนี้เรียบง่ายแต่ทรงพลัง: คุณฟังเสียงภาษาอังกฤษจากเจ้าของภาษาและพูดตามทันที — เหมือนเงาที่ตามผู้พูดด้วยช่วงเวลาห่าง 1-2 วินาที การวิจัยแสดงว่าเทคนิคนี้ปรับปรุงความแม่นยำในการออกเสียง ทำนองเสียง จังหวะ การเชื่อมเสียง การฟังเข้าใจ และความคล่องแคล่วในการพูดได้อย่างมีนัยสำคัญ