Down Syndrome

Down Syndrome,what is Down Syndrome ?,Down syndrome or Downs syndrome, (also known as trisomy 21-21-三体综合症), is a chromosomal（染色体） condition caused by the presence of all or part of an extra 21st chromosome. It is named after John Langdon Down, the British physician who described the syndrome in 1866. 唐氏综合征（21-三体综合征）又名“先天愚型”，包含一系列的遗传病，其中最具代表性的第21对染色体的三体现象，会导致包括学习障碍、智力障碍等情况。这个病因的命名源自在19世纪末首次描述其病理的英国医生约翰朗顿唐（John Langdon Down）。,Annual March 21 was international Down Syndrome Day,In 1866, the British doctor, John Langdon, Down was first published the disorder in the Society . It was originally called mongolism or Mongolia dementia, Dr. Down found his patients face is wider than normal, small eyes on the pick looks Mongoloid resemblance. The face of all patients have similar characteristics, patients with Down syndrome is also known as the international people.,1866年，英国医生约翰朗顿唐在学会首次发表了这一病症。它最早叫蒙古症或者蒙古痴呆症，因为唐医生发现他的病人的面部比正常人较宽，眼睛小而上挑，看起来与蒙古人种有类同之处。在现今医学界认为这种叫法不尊重，也无医学实际意义，而不再普遍使用。由于各国患者的面容有相似的特征，唐氏综合征病人也被俗称为“国际人”。,1. Individuals with Down syndrome may have some or all of the following physical characteristics: microgenia（头颅小） , an unusually round face, macroglossia(巨舌), an almond(杏） shape to the eyes caused by an epicanthic fold of the eyelid, upslanting palpebral fissures (the separation between the upper and lower eyelids), shorter limbs, a single transverse palmar crease (a single instead of a double crease across one or both palms), poor muscle tone, and a larger than normal space between the big and second toes. Health concerns for individuals with Down syndrome include a higher risk for congenital heart defects, gastroesophageal reflux disease, recurrent ear infections that may lead to hearing loss, obstructive sleep apnea, thyroid dysfunctions, and obesity.,Symptoms,2. Mental retardation: the most prominent, the most serious manifestations, usually in the range of 25 to 50 IQ, impaired abstract thinking ability maximum(智能低下：最突出、最严重表现，智商通常在2550之间，抽象思维能 力受损最大。),3.Language developmental disorders: the average age of children are beginning to learn to speak as late as 4 to 6-year-old, 95% pronunciation defects, voice hoarse, articulate vague; stuttering high incidence , more than 1/3 of the speech rhythm is not normal.even the explosion in tone.(语言发育障碍：患儿开始学说话的平均年龄迟至46岁，95%有发音缺陷、声音低哑、口齿含糊不清；口吃发生率高，1/3以上有语音节律不正常，甚至呈爆发音.),4.Behavioral disorders: 21 - trisomy syndrome are mostly gentle, often giggling, like imitation and repetition of simple actions can make some simple labor, after repeated training. A small number of patients with irritable, headstrong, hyperactive, and even destructive attacks; Some children display shrink tendency, accompanied by the emotions of catatonia.(行为障碍：21-三体综合征患儿大多性情温和，常傻笑，喜欢模仿和重复一些简单的动作，经过反复训练可进行一些简单劳动。少数患者易激惹、任性、多动，甚至有破坏攻击行为；有些患儿则显示畏缩倾向，伴有紧张症的情绪。),5.Motor retardation: early motor function and normal age-child differences in children after birth may not be, but the age difference increases. Motor development in different patients vary widely. 21 - trisomy syndrome patients can perform a simple movement, such as dressing, eating, etc., but the clumsiness, lack of coordination, unsteady gait, need parenting patiently repeated training.(运动发育迟缓：患儿在出生后早期运动功能与正常同龄儿差别可能不大，但随年龄增长其差别增大。在不同的患者中运动发育的情况也相差很大。21-三体综合征患者可执行简单的运动，如穿衣、吃饭等，但动作笨拙、不协调、步态不稳，需要养育者有耐心地反复训练。),6.Physical retardation: short stature, bone age lag, late teething, often misplaced. Short limbs, ligamentous laxity, limb joints can be excessive bending. Stubby fingers, small point bending. Motor development and sexual development are extended.(体格发育落后：身材矮小，骨龄滞后，出牙迟且常错位。四肢短，韧带松弛，四肢关节可过度弯曲。手指粗短，小指向内弯曲。动作发育和性发育均延),7.Accompanied by deformity(畸形),Digestive organs deformities, such as congenital esophageal atresia, duodenal stenosis.消化器官畸形，如先天性食道闭锁症，十二指肠狭窄，锁肛等Congenital heart disease, the prevalence ratio of up to 40%, especially in the endocardial dysfunction a higher proportion of, usually, if not early treatment will be deadly.先天性心脏病，患病比率高达40%，尤其是心内膜不全比例较高，通常如果不进行早期治疗会有致命危险,Cataract, the prevalence was 2%白内障，患病率为2% Acute leukemia, the prevalence was 1%急性白血病，患病率为1% Thyroid disease, the prevalence of 3%甲状腺疾病，患病率3% Nodding epilepsy, the prevalence of 10%点头癫痫，患病率10% Abnormalities of the eye by the cornea, lens abnormalities caused by myopia, hyperopia, astigmatism and other眼异常，由角膜，水晶体异常引发近视，远视，散光等,8.Fingerprint change,Reason:heredity，environment,age,Age is too high (more than 35 years of age), is too small (under 20) that led to the 21 - trisomy syndrome risk factors were also reported , and fathers age being too hig