智能障礙與先天性動作協(xié)調(diào)障礙課件

1、智能障礙與先天性動作協(xié)調(diào)障礙天主教臺東聖母醫(yī)院物理治療師陳志軒2005.4.20.智能障礙與先天性動作協(xié)調(diào)障礙天主教臺東聖母醫(yī)院智能障礙的定義智力功能和適應(yīng)行為上存有顯著之限制而表現(xiàn)出的一種障礙 所謂適應(yīng)行為指的是概念(conceptual) 社會(social )及應(yīng)用(practical)三方面的技能發(fā)生於 18歲之前 AAMR, 2002智能障礙的定義智力功能和適應(yīng)行為上存有顯著之限制而表現(xiàn)出的一概念: 語言(接受性與表達(dá)性) 讀和寫 金錢 概念社會: 人際 自尊 社會規(guī)範(fàn) 責(zé)任感應(yīng)用: 日常生活 職業(yè)技能概念: 語言(接受性與表達(dá)性) 讀和寫 金錢 智能障礙的定義心智功能明顯低下或個別

2、智力測驗結(jié)果未達(dá)平均數(shù)負(fù)二個標(biāo)準(zhǔn)差學(xué)生在自我照顧 動作 溝通 社會情緒或?qū)W科學(xué)習(xí)較同年齡有顯著困難 身心障礙及資賦優(yōu)異學(xué)生鑑定原則基準(zhǔn)第三條智能障礙的定義心智功能明顯低下或個別智力測驗結(jié)果未達(dá)平均數(shù)負(fù)智能障礙的原因疾病感染和中毒外傷造成新陳代謝障礙或營養(yǎng)失調(diào)產(chǎn)後原因染色體異常懷孕期間物質(zhì)濫用智能障礙的原因疾病感染和中毒W(wǎng)hat is Down syndromeDown syndrome, also known as Trisomy 21, is the single most common genetic pattern of malformation in man. Most text bo

3、oks quote the incidence of Down syndrome to be between one in 700 to 800 live births. In 1866, John Langdon Haydon Down described the physical features and associated medical problems that have come to be known as Down syndrome. In the 1930s, physicians established a relationship between advanced ma

4、ternal age and Down syndrome. The chromosomal, or genetic, basis of Down syndrome was not established until 1959. A normal human cell contains 23 pairs of chromosomes which carry all of a persons genetic information. Due to several possible abnormal mechanisms of cell reproduction, patients with Dow

5、n syndrome have an extra (third) copy of the 21st chromosome. Thus, Down syndrome is also called Trisomy 21. Advanced maternal age is associated with a high incidence of Trisomy 21, but even women of typical child bearing age can have affected babies. While the diagnosis may be strongly suggested by

6、 characteristic physical findings, the final diagnosis is often made only after chromosome analysis, which includes a complete count and visualization under a microscope of the chromosomes taken from cells in the blood. What is Down syndromeDown syndromeDown syndromeCri du Chat Syndrome(Cry of the c

7、at in French) is a genetic disorder caused by the loss or misplacement of genetic material from the fifth chromosome. It was first identified in 1963 by Professor Lejeune, who also identified the genetic cause of Downs Syndrome. He described the syndrome after the sound that many of the babies and y

8、oung children make when crying. This cry, along with some of the other notable features, is so characteristic of the syndrome that a doctor can usually identify the condition before a chromosome analysis has taken place. As well as the physical features, Cri du Chat causes a varied level of mental h

9、andicap. There are a few children who attend mainstream education, but the majority of the children need more specialised education. The long term outlook for children with Cri du Chat is quite good. Cri du Chat Syndrome(Cry of tCri du Chat SyndromeCri du Chat SyndromeCri du Chat SyndromeCri du Chat

10、 SyndromeFetal alcohol syndromeFetal alcohol syndrome智能障礙與先天性動作協(xié)調(diào)障礙課件FAS-affected childs brainFAS-affected childs brainFragile-x SyndromeFragile-x SyndromeHurlers syndromeHurler syndrome is an autosomal recessive lysosomal storage disorder affecting mucopolysaccharide metabolism, the underlying defe

11、ct being a deficiency of alpha-L-iduronidase. Hurler syndrome is also called gargoylism.The patient presents before the age of 2 with coarse facial features and mild developmental delay. The childs development ceases and a gradual intellectual decline occurs with death in the second decade.Hurlers s

12、yndromeHurler syndrHurlers syndromeHurlers syndromePrader willi syndromePrader willi syndromeLesch-Nyhan SyndromeLesch-Nyhan syndrome (LNS) is a rare genetic disorder characterized by an overproduction of uric acid, neurological disability, and behavioral problems. The symptoms of LNS typically appe

13、ar between ages 3 and 6 months; the presence of orange-colored crystal-like deposits (orange sand) in the childs diaper is usually the first symptom to appear in those affected with the syndrome. LNS is caused by a mutation in the HPRT gene on the X-chromosome, resulting in a deficiency of the enzym

14、e hypoxanthine-guanine phosphoribosyltransferase (HPRT). HPRT is involved in the recycling of purines. When the body is unable to recycle these purines, there is a dramatic overproduction of uric acid, which then leads to hyperuricemia. Hyperuricemia can result in gouty arthritis, tophi (lumpy depos

15、its of uric acid crystals just under the skin) and kidney stones. LNS has been reported to occur in 1 out of every 100,000 live births. It is estimated that there are only several hundred individuals with the disorder in the United States. LNS has been found equally among all races and ethnic groups

16、, however as an X-linked disorder, nearly all cases are male. LNS can either be inherited or it can occur as a spontaneous (or new) mutation.LNS was first described by Michael Lesch, M.D. and William Nyhan, M.D., Ph.D. in 1964 when they reported two affected brothers. The enzymatic defect was discov

17、ered by Seegmiller and colleagues in 1967. Finally, the gene responsible for LNS was cloned and sequenced by Friedmann and colleagues in 1985.Lesch-Nyhan SyndromeLesch-Nyha智能障礙常伴隨的問題先天性心臟疾病心肺功能疾患肌肉骨骼疾病智能障礙常伴隨的問題先天性心臟疾病智能功能的評估年齡大小的考量: 年齡太小語言表達(dá)仍有問題 不能以知覺動作的發(fā)展來評估智能的高低障礙類別的考量: 強(qiáng)調(diào)information processing c

18、apacity文化不利因素的考量: 尤其是語言的表現(xiàn)智能功能的評估年齡大小的考量:常用的評估工具Stanford Binet Intelligence ScaleWelchsler Intelligence test for ChildrenBayley Scale for Infant Development The sensorimotor-based infant assessments are poor predictors of mental ability at later agesPeabody Picture Vocabulary常用的評估工具Stanford Binet In

19、tellig常用的評估工具Ravens Progressive Matrices: selection of missing elements of abstract designsLeiter International Performance scale non language based test with minimal motor requirment常用的評估工具Ravens Progressive Mat智能障礙的分類極重度: 無自我照顧能力 須長期照護(hù)重度: 同上中度: 他人庇護(hù)下從事非技術(shù)性工作 部分自理能力輕度: 特殊教育下從事半技術(shù)或簡單技術(shù) 工作及部分自理能力智能障礙

20、的分類極重度: 無自我照顧能力 智能障礙的分類極重度: 智商在平均值5個標(biāo)準(zhǔn)差以下 3歲以下(可訓(xùn)練的) 重度: 45個標(biāo)準(zhǔn)差 ; 36 歲(IQ2540)中度: 34個標(biāo)準(zhǔn)差 ; 69 歲(IQ 4055) (可教育的)輕度: 23個標(biāo)準(zhǔn)差 ; 912 歲(IQ 5570)智能障礙的分類極重度: 智商在平均值5個標(biāo)準(zhǔn)差以下The mental retardation label is useful as a passport to early intervention and special education. Such label provides little insight into

21、 the strengths of the individual or the services that are needed and may limit a childs opportunities! The mental retardation label i復(fù)健的介入語言及動作發(fā)展遲緩經(jīng)常是兒童被診斷是智能障礙的最初期線索之一減少功能的限制避免二次損害促進(jìn)同儕的互動家屬觀念的引導(dǎo)復(fù)健的介入語言及動作發(fā)展遲緩經(jīng)常是兒童被診斷是智能障礙的最初復(fù)健的介入直接服務(wù)間接服務(wù)復(fù)健的介入直接服務(wù)介入的模式Top-Down approach the assessment identify means to achieve desired outcomesBottom-up approach the assessment results determine outcomes介入的模式Top-Down approachTop-down approachDesired outcomeStrategies to bypass obstaclesInterventionTop-down approachDesired outcoBottom-up approachIdentify strengths and weakn