全科醫(yī)學(xué)中的心理健康病案研究(二十)
——唐氏綜合征

Julian Davis，F(xiàn)iona Judd，Grant Blashki，Leon Piterman，Hui Yang

1 病史

簡是一位38歲的患唐氏綜合征的單身女性，和81歲的母親和84歲的父親生活在一起。她父親帶她來找你看病，因為她最近8個星期以來個人功能明顯下降。她父親告訴你，簡變得坐臥不寧，有挑釁性，而且還把自己的頭往墻上撞。她父親還告訴你說，有些事情以前就注意到了但沒有跟你說，就是簡的父母18個月以前就發(fā)現(xiàn)她的一般情況在惡化，思維混亂，記不住事情。

2 其他病史

簡的智商評分為50分，日常生活中的大部分活動都需要別人幫助。她的視覺和聽覺功能沒有問題，但掌握的詞匯量非常少，所以語言表達(dá)很困難。她母親因結(jié)腸癌住院，父親患有多種慢性病，即使有外部幫助，照顧起簡來也很困難。

體檢發(fā)現(xiàn)，與她以往來診所看病相比，簡顯得更不愿意說話。她呆坐在椅子上，沒有了她以往的友好態(tài)度。她經(jīng)常站起來，慌慌張張地跑到門口。你問她哪里不好，怎么不舒服，遇到了什么麻煩，她對這些簡單的提問采取不合作的態(tài)度。

簡表現(xiàn)出唐氏綜合征的各種異形特征。她身高5英尺2英寸(157.1 cm)，體質(zhì)量85 kg，血壓160/95 mm Hg(1 mm Hg=0.133 kPa)，沒有體位性低血壓情況，脈搏不穩(wěn)定，平均80次/min。檢查發(fā)現(xiàn)可能存在右側(cè)甲狀腺瘤。她沒有白內(nèi)障，聽覺系統(tǒng)也正常。心血管檢查發(fā)現(xiàn)左肋間向鎖骨中線2 cm處心尖搏動音，呈現(xiàn)泛收縮期輕微雜音。此外沒有其他異常發(fā)現(xiàn)。

3 提問

3.1 什么診斷可以解釋簡的臨床表現(xiàn)？

3.2 可能的精神病學(xué)診斷是什么？

3.3 應(yīng)該考慮哪些其他的診斷？

3.4 如果要確定診斷，你需要做什么？

3.5 你能提供什么治療服務(wù)？

4 解答

4.1 什么診斷可以解釋簡的臨床表現(xiàn)？ 可以解釋簡的臨床表現(xiàn)的診斷包括：輕中度抑郁；適應(yīng)障礙伴抑郁和焦慮心境；Alzheimer癡呆癥早期發(fā)作。此外，必須考慮和排除她臨床表現(xiàn)的器質(zhì)原因。

4.2 可能的精神病學(xué)診斷是什么？ 最能解釋簡最近發(fā)生問題的精神病學(xué)診斷是抑郁。在智障人士中，抑郁的表現(xiàn)與其他人是不同的，經(jīng)常表現(xiàn)為對自己和他人的進(jìn)攻性行為，并表現(xiàn)出不可解釋的思維混亂[1-2]。病人經(jīng)常表現(xiàn)為睡眠和食欲紊亂，并經(jīng)常不可預(yù)料地哭泣。日常生活能力下降主要表現(xiàn)為自我照顧能力差，進(jìn)食能力缺失，有些情況下功能退化到大小便失禁?？赡軙l(fā)生依賴行為，需要別人不斷地安慰，有時言語中有自殺傾向。智商水平稍高(智商60～70)且行動自如的智障患者如果表達(dá)自殺傾向，則應(yīng)引起足夠重視。病人可能會說他(她)很悲傷、恐懼，或者害怕別人。對于害怕別人的病人，可能對他(她)害怕的人采取攻擊行為。

4.3 應(yīng)該考慮哪些其他的診斷？ 鑒于簡的環(huán)境變化——她的母親住院，她的父親需要額外幫助才能照顧簡，所以可以考慮適應(yīng)障礙伴焦慮和抑郁心境。

對于簡的病例來說，很有可能在38歲的時候出現(xiàn)Alzheimer癡呆癥的認(rèn)知下降問題。唐氏綜合征的病人在40歲左右會出現(xiàn)Alzheimer疾病的神經(jīng)病理學(xué)表現(xiàn)，發(fā)病高峰期在剛過50歲的時候。對于簡來說，要進(jìn)一步從家人、照顧者和其他支持人員那里采集確鑿的關(guān)于記憶力問題、日常生活能力下降問題、詞匯和表達(dá)能力降低問題，以及逐漸出現(xiàn)的行為問題，如進(jìn)攻、躁動、游走，以及日落后癥狀加重(指病人從傍晚開始焦躁、思維混淆、記憶減退情況加重的情況)的各種特征的信息。

一旦智障病人出現(xiàn)任何行為或心境紊亂，都要考慮和排除器質(zhì)性(軀體)疾病的診斷。與易患精神疾病一樣，智障病人也容易患軀體疾病，而且軀體癥狀也不容易被發(fā)現(xiàn)。病人經(jīng)常發(fā)生隱秘的感染，特別是尿路感染、口腔和牙齦感染、耳道感染等。無論任何原因造成的痛苦，都會表現(xiàn)為行為紊亂。這類病人更經(jīng)?；继悄虿?，并表現(xiàn)為心境和行為紊亂。甲狀腺問題、胃食管反流、便秘、高血壓，以及女性病人的痛經(jīng)等問題，在這類病人中表現(xiàn)的都不是很典型的癥狀。不過這些軀體疾病都應(yīng)該排除。簡有甲狀腺瘤、高血壓，并有跡象表明出現(xiàn)左側(cè)心室功能不全和左房室瓣關(guān)閉不全。這些軀體情況都需要進(jìn)一步檢查和治療。

4.4 如果要確定診斷，你需要做什么? 只有在得到確鑿的病史的情況下，才能做出明確的精神病學(xué)診斷。你可以通過與家庭成員和其他與病人有長期接觸的人的深入討論，來獲得病史信息。對于顯著殘疾并表達(dá)能力差的智障病人來說，精神病學(xué)障礙檢查的價值是有限的。病人經(jīng)常有對情感和舉止的標(biāo)示和表達(dá)困難，因此容易受到測驗者提問方式以及其他在場人的影響。

你需要通過生物-心理-社會的模式和評估方法，去發(fā)現(xiàn)可能存在的器質(zhì)性問題、精神病學(xué)障礙，以及社會層面的問題。在簡的病例中，雖然器質(zhì)性疾病不可能單獨地造成她目前的癥狀，但器質(zhì)性疾病肯定會造成心理紊亂的惡化，在采用精神病性藥物治療她的抑郁的時候，也要考慮到器質(zhì)性疾病問題。

鑒于簡有可能出現(xiàn)Alzheimer病的早期發(fā)作情況，需要對她進(jìn)行正式的認(rèn)知和功能評估，如果可能的話，還應(yīng)該做顱腦CT或者M(jìn)RI檢查。她還需要做一些血液檢查，如甲狀腺功能、維生素B12、葉酸，以便排除其他造成癡呆癥的原因，并需要通過尿液檢查來排除感染。

4.5 你能提供什么治療服務(wù)? 可以采用抗抑郁藥來治療她的抑郁。SSRI類抗抑郁藥是最常見的藥物選擇。記住，智障病人通?；加熊|體共病，而且藥物相互作用的風(fēng)險也比較高。用藥劑量應(yīng)該從低劑量開始，然后逐漸增加藥量。智障病人可能不會跟你報告藥物不良反應(yīng)，因此，需要你小心謹(jǐn)慎地對藥效進(jìn)行監(jiān)測[3]。應(yīng)該告訴簡的父親有關(guān)藥物不良反應(yīng)的信息，請他隨時觀察這些不良反應(yīng)的跡象。對簡的父親提供支持，并保證簡和她父親能夠得到恰當(dāng)?shù)闹С郑@一點很關(guān)鍵。在持續(xù)管理方面，要考慮到簡今后的照顧和居所安排問題，特別是考慮到她父母去世后的安排。

1 Davis JP,Judd FK,Herrman H.Depression in adults with intellectual disability.Part 1:A review[J].Australian & New Zealand Journal of Psychiatry,1997,31:232-242.

2 Davis JP,Judd FK,Herrman H.Evaluation of depression in adults with intellectual disability.Part 2：A pilot study[J].Australian & New Zealand Journal of Psychiatry,1997,31:243-251.

3 Therapeutic Guidelines.Management Guidelines Intellectual Disability V3[Z].2012.

·WorldGeneralPractice/FamilyMedicine·

【IntroductionoftheColumn】 The Journal presents the Column of Case Studies of Mental Health in General Practice;with academic support from Australian experts in general practice,psychology and psychiatry from Monash University and the University of Melbourne.The Column′s purpose is to respond to the increasing needs of mental health services in China.Through study and analysis of mental health cases,we hope to improve understanding of mental illnesses in Chinese primary health settings,and to build capacity amongst community health professionals in managing mental illnesses in general practice.Patient-centred whole-person approach in general practice is the best way to maintain and improve the physical and mental health of residents.Our hope is that these case studies will lead new wave of general practice and mental health development both in practice and research.A number of Australian experts from the disciplines of general practice,mental health and psychiatry will contribute to the Column.A/Professor Blashki,Professor Judd and Professor Piterman are authors of General Practice Psychiatry.The Journal cases are helping to prepare for the translation and publication of a Chinese version of the book in China.We believe Chinese mental health in primary health care will reach new heights under this international cooperation.

1 History

Jane is a 38-year old single woman with Down syndrome who lives at home with her elderly mother and father aged 81 and 84 years old respectively.Her father has brought her to see you because he is concerned that there has been a significant decline in personal functioning over the last 8 weeks.In addition he tells you she has been agitated and aggressive and has commenced banging her head on the wall.Her father tells you that he has actually noticed,but not previously mentioned to you,that he and his wife have been concerned abouta deterioration in general functioning over the past 18 months where at times Jane has appeared confused and forgetful.

2 Other History

Jane has an IQ of 50 and requires assistance with most activities of daily living.She has no sensory impairments (visual or auditory) but has a very limited vocabulary with difficulty in verbal expression.Her mother has recently been hospitalised with Carcinoma of the Colon and her father who has several chronic illnesses has had difficulty caring for her even with outside assistance.

On examination,Jane is less talkative when compared with previous visits to your surgery.She sits slumped in the chair and lacks her usual friendly demeanour.At times she gets up and runs to the door in an agitated fashion.She is not co-operative with simple questioning about how she feels and when asked if anything is troubling her.

Jane presents with the dysmorphic features of Down syndrome.Her height is 5 foot 2 inches and she weighs 85 kg.BP lying is 160/95 with no postural drop,her pulse is irregularly irregular at 80 bpm.Examination reveals a possible right thyroid nodule.She has no cataracts and examination of the auditory system is normal.Examination of the cardiovascular system reveals the apex beat in the 6thleft intercostal space 2cm to left of mid clavicular line.There is a soft pan-systolic murmur at the apex.There are no other abnormalities evident.

3 Questions

3.1 What possible diagnoses might explain Jane′s presentation?

3.2 What is the probability psychiatric diagnosis?

3.3 What other diagnoses should be considered?

3.4 What will you need to do to confirm your diagnosis？

3.5 What treatment can you offer?

4 Answers

4.1 What possible diagnoses might explain Jane′s presentation? The possible psychiatric diagnoses in Jane are:clinical depression of mild-moderate severity;an adjustment disorder with depressed and anxious mood;early onset of Alzheimer type dementia.In addition,an organic cause for her presentation must be considered and excluded.

4.2 What is the probability psychiatric diagnosis? The diagnosis which best describes Jane′s more recent problems is that of a clinical depression.Depression presents differently in people with an intellectual disability and frequently manifests as aggressive behaviour towards self or others and unexplained agitation[1-2].Sleep and appetite disturbance are common and unexplained crying episodes are frequent.Regression of activity of ADL skills is evident with poor self-care,loss of feeding skills and sometimes regression to urinary and faecal incontinence.Clinging behaviours and need for frequent reassurance may occur,and sometimes suicidal ideation is expressed.The expression of suicidal ideation in higher functioning persons with ID (IQ 60-70) who are mobile is a warning sign of great significance.The person may tell you they are sad,afraid or fearful of others.The latter may result in aggressive behaviour towards the person who is feared.

4.3 What other diagnoses should be considered? An adjustment disorder with anxious and depressed mood should be considered given the changes in Jane′s environment with her mother′s admission to hospital and her father needing to recruit outside assistance to help him care for Jane.

In Jane there is a very real possibility that at 38years old she is starting to show cognitive decline from Alzheimer′s style dementia.By the fourth decade,people with Down syndrome will exhibit neuropathological changes of Alzheimer′s disease with the peak incidence occurring early in the 5th decade.In Jane,further corroborative history from family,carers and other support persons is required focussing on problems with memory,decline in activities of daily living,reduced vocabulary and expression and gradual emergence of behavioural problems such as aggression,irritability,wandering behaviour,features of sundowning(agitation,confusion and memory problems worse in the late afternoon).

Whenever disturbances in behaviour or mood occur in persons with ID (intellectual disability),an organic diagnosis (physical illness) must be excluded.Physical disorders,like psychiatric disorders,are more prevalent in those with ID and the presentation may be masked.Occult infections,especially of the urinary tract,the mouth and gums,and ear canal are frequent.Pain from whatever cause may manifest only as behavioural disturbances.Diabetes mellitus is more common in this group and often presents with disturbances in mood and behaviour.Thyroid problems,gastro-oesophageal reflux,constipation,hypertension and in women problems with painful menstruation may not present in the typical fashion and all must be excluded.Jane has features of a thyroid nodule with AF,hypertension and evidence of emerging left ventricular failure and mitral incompetence.These conditions will need investigation and management.

4.4 What will you need to do to confirm your diagnosis? The probable psychiatric diagnosis can only be obtained after further corroborative history is obtained such as discussing with family members and others spend time with the patient.Cross-sectional examination for psychiatric disorder in people with intellectual disability who are significantly impaired and have poor expression is of limited value.The patient often has difficulties in labelling or in conveying emotion and the conduct in the examination can be influenced by the examiner,the way of asking questions and the presence of others in the room.

A comprehensive biopsychosocial approach and assessment is required looking at possible organic problems as well as psychiatric disorders and social issues.In Jane′s case,whilst the physical disorders are unlikely to be solely responsible for her presentation they will certainly make any psychological disturbance worse and will need to be considered in the management of her depression with psychotropic medication.

Given the possibility of early onset Alzheimer′s disease,formal cognitive and functional assessment is required together with a cerebral CT or MRI scan if such investigations are available.She will also require some blood tests to rule out other possible causes of dementia such as thyroid function,vitamin B12 and folate levels,and urine test to rule out infection.

4.5 What treatment can you offer? Depression can be treated with antidepressant medications and SSRI antidepressants are usually the treatment of choice.Remember that people with ID have higher rates of medical co-morbidity and have more risk of medication interactions.The medication should be started at a low dose and the dose increased gradually.People with ID may not be able to advise you of adverse effects,so careful monitoring is required,and Jane′s father should be told about potential side-effects and asked to watch carefully for any evidence of these[3].Supporting Jane′s father and ensuring there are adequate supports in place for both him and Jane is essential.In the long run,consideration will be needed regarding Jane′s long term accommodation and care when her parents have passed away.

1 Davis JP,Judd FK,Herrman H.Depression in adults with intellectual disability.Part 1:A review[J].Australian & New Zealand Journal of Psychiatry,1997,31:232-242.

2 Davis JP,Judd FK,Herrman H.Evaluation of depression in adults with intellectual disability.Part 2：A pilot study[J].Australian & New Zealand Journal of Psychiatry,1997,31:243-251.

3 Therapeutic Guidelines.Management Guidelines Intellectual Disability V3[Z].2012.