「狄蘭氏症候群」（Cornelia de Lange Syndrome, CdLS）

「狄蘭氏症候群」是荷蘭小兒科醫生柯尼莉亞．迪蘭首先發現，並將此特殊的症候群於1933年公佈出來。目前由義大利國家研究委員會管轄之生物醫學科技研究院 (CNT-ITB) 的研究團隊成功辨識出以柯尼莉亞迪蘭氏症候群為基礎的分子機制，據公告顯示每萬名嬰兒中會出現一個案例，研究員目前發現的有兩個導至CdLS的基因突變：SMC1A及SMC3，這兩個基因負責複合分子cohesine蛋白質合成編碼，該部可確保姊妹染色分體（ chromatide soeur）複製時的內聚力。然而，目前研究尚未證實，缺少這些蛋白質會導致CdLS的特殊病狀。此外，研究人員指出SMC1A與SMC3突變基因所合成的蛋白質，與DNA結合時的力量較一般來的強，這會干擾攸關DNA的細胞程序，如基因的轉錄 SMC1A與SMC3基因突變會造成其他基因的功能失調，目前的研究方向將鎖定受到影響基因的辨識。(資料來源: www.bulletins-electroniques.com/actualites/57786.htm)

2004年費城兒童醫院（The Children’s Hospital of Philadelphia）及新堡大學 ( University of Newcastle ) ，指認出當NIPLB的基因在五號染色體上突變就會造成CdLS 。

在許多的個案中發現CdLS是由於基因的突變或改變所造成的結果。有些特殊的個案發現在同一個家庭中有不止一個孩子有CdLS，但在其他的家庭中並沒有這種案例。（資料來源：CdLS Foundation Newsletter Feb. 2008）

以上的研究資料並未確切的認定是造成CdLS的結果，我們尚期待更多證據以及數據，來解答我們的疑惑。但是根據2008年4月所公佈的統計數字，目前患有狄蘭氏症候群的患者，佔全球人口比率的一萬分之一，也就是一萬人中有一個人得到這樣的病症，因此，我們是需要多花些時間來關注並瞭解這個病症。

狄蘭氏症候群的特徵

初期的評估可由孩子外表所顯現出的特徵，如：身材較嬌小、濃眉大眼、兩邊眉間毛髮相連接、眉間毛髮較稀少、眼睫毛長、頭髮濃密、體毛較多、鼻子較短小而往上翹、嘴唇薄且往口裡彎、頭的尺寸較一般孩子小、有些孩子手和腳的尺寸較小、也有的孩子天生缺手或缺少手指頭，更多外表瑕疵的特徵因人而異。比較普遍的生理現象在於便秘、心臟功能失常、癲癇、進食困難、視力問題、失去聽力，至於手足失常的情況不一，如：天生缺失手或缺失手臂及手指頭，在個案中也有出現的案例。

「狄蘭氏症候群」與「自閉症症候群」相似症狀

在學習機制方面，「狄蘭氏症候群」 (CdLS) 的孩子在學習方面的障礙與自閉症症候群的孩子有許多雷同之處，例如：語言發展的遲緩、大小肌肉運動協調的問題、體能、感覺統合障礙等等，每個孩子各有不同的狀況。輕微的或嚴重的狀況所需要的教育方向也有很大的差別，一種的教學方式並不能適合所有的學生。　

「狄蘭氏症候群」的訓練與矯正應注意之處

許多的訓練及矯正工作對孩子都有不同的助益，如：藝術治療／訓練、音樂治療、馬術／運動治療、感官統合、語言矯正、行為矯正等等 。

最重要的是，家長如何選擇項目及需要注意的問題，在選項的同時需要考量這項目是，家長需要看到孩子的收穫是在哪一方面？治療師或訓練師是否有足夠的經驗教導CdLS或其他學習障礙的學生？治療師或訓練師和專業人員是否保持密切的聯繫？教室學生與指導人員安全的人口比率？在治療或訓練其間保護及安全性的問題？父母親是否能同時參與活動？當家長不在現場監視孩子活動的情況時，是否能安心？

（資料來源：The Newsletter of the Cornelia de Lange Syndrome USA Foundation, Inc. Spring 2009）

正式的醫療診斷是需要經過專業醫生的評估、身體檢查、實驗室的檢驗及病歷史的追蹤等程序，才能認定確實的診斷結果。若有需要更多的新資訊，您可向「狄蘭氏症候群基金會」查詢，這個基金會也會提供就近地點的互助家庭聯絡處。

狄蘭氏症候群基金會 (CdLS Foundation) 的網址：www.DdLSusa.org

 電話：800-753-2357

What is Cornelia de Lange Syndrome?

Cornelia de Lange Syndrome (CdLS) is a congenital syndrome, meaning it’s present from birth. It causes a range of physical, cognitive and developmental disabilities, and occurs in approximately 1 in 10,000 live births. The effects of CdLS range from mild to severe. It affects both genders equally and is seen in all races/ethnic backgrounds.

“Syndrome” is a medical term for a condition in which there is a collection of signs (observable body changes) and symptoms recognizable by a doctor’s exam.

Signs & Symptoms of CdLS

As with other syndromes, individuals with CdlLS strongly resemble one another. Common characteristics include: low birth weight (often under five pounds), slow growth, small stature, and small head size.

Typical facial features include eyebrows that meet in the middle, long eyelashes, a short upturned nose, and thin downturned lips. Other features may include excessive body hair and small hands and feet.

Common medical issues include gastroesophageal reflux disease, heart defects, seizures, feeding difficulties, vision problems, and hearing loss. Limb difference---including missing arms, forearms or fingers --- are also found in some individuals.

Behavioral, communication and cognitive challenges often exits.

Not all individuals with CdLS will have all the signs and symptoms mentioned above.

How it Happens

Researchers have identified genes that, when altered, cause CdLS. Genetic change (called mutations) occur in individuals with CdLS that typically are not present in their parents. This means a change developed in those individuals, resulting in CdLS.

How it’s Diagnosed

The diagnosis of CdLS is primarily clinical based on signs and symptoms observed through an evaluation by a physician, including a physical examination, medical history and laboratory tests.

Genetic testing is available at the University of Chicago’s Genetic Services Laboratory and the Children’s Hospital of Philadelphia.

Have you considered alternative therapies?

Most children with CdLS will participate in speech, occupational and/or physical therapies at some point to aid in their development. Over the years, families have explored a variety of additional therapies that further engage their children in activities that enrich their quality of life. Families have reported positive results as their children develop important skills, all while having fun.

Each child is different and not all therapies may be of benefit to every child. Before making the personal decision to enroll you child in one of these therapies, please consider the following questions:

• What objectives would I like my child to achieve as  a result of this therapy?
• Does the therapist have experience working with children with CdLS or other special needs?
• What is the program’s staff-to child ratio?
• What safety procedures will be in place during the session?
• What are the physical demands of this therapy?
• Are parents encouraged to be present for the session?
• Do I feel comfortable with the level of supervision?

Resource from: The Newsletter of the Cornelia de Lange Syndrome USA Foundation, Inc. Spring 2009）

If you would like to learn more about CdLS, please visit the web site :  www.CdLSusa.org or you can call CdLS Foundation, Inc. at 860-676-8166