Cornelia De Lange Syndrome example essay topic

It's in the Face Cornelia de Lange Syndrome (CdLS) A young new couple decides the honeymoon is over and decides they want to bring children into this world. After trying numerous times unsuccessfully they finally got positive results that a baby is on the way. Through out the pregnancy problems would arise and tests would show that the baby was going to be born with birth defects. More tests would have to be done after birth to get an accurate diagnosis. After months of horrible complications and negative doctor visits a baby boy was born into this world. Upon being brought into this world, the little boy named Brayden was diagnosed with many different conditions.

Doctors knew were all of these were linked together some how but no one had a name for it. Test would go on and weekly doctors visits were attended but now one could say what was wrong with this baby they just knew he was different. Two years into Brayden's life he was diagnosis with a condition called the Cornelia de Lange Syndrome (CdLS). Finally having a diagnosis meant tons to the parents of this boy, they could now become educated and informed, along with becoming more knowledgeable on how to take care of this bundle of joy. As with most syndromes CdLS is not commonly associated with a definition. However the most scientific definition I have found states that CdLS is a disorder of unknown etiology resulting in a syndrome characterized by specific features.

In 1933, Dr. Cornelia de Lange, a Dutch pediatrician, described two children with similar features, one 17 months and the other 6 months, who were admitted within weeks of each other to Emma Children's Hospital. The first child had pneumonia. Her first year of life had been characterized by a lot of feeding difficulties and she was very small for her age, with a proportionately smaller head circumference. Other unusual facial characteristics were noted be Dr. de Lange. Soon after this child was discharged, a second little girl was admitted. Not only did they have common medical problems, but also their resemblance to each other was remarkable.

In each case the doctor described was she observed with great care and detail. Professor de Lange followed her own advice: "Observe closely first". Nowhere was the puzzled physician able to find a similar patient described in medical literature. Cornelia de Lange is now generally credited with describing the collection of symptoms comprising the syndrome that bears her name.

CdLS is a syndrome with estimated birth prevalence between 1: 10,000 and 1: 30,000 live births. For example, this would suggest that a population the size of Canada might experience 18 births per year of children with CdLS, in Ohio one might expect 8, and in the United Kingdom, 38 births a year. The life expectancy of a person is not known with any certainty. Earlier, many children died of serious medical problems in infancy because their needs were not anticipated. This is no longer the case, and it is expected that most will line into adulthood. This is as long as other medical problems associated with the syndrome don't cause complications As with other syndromes, individuals with CdLS strongly resemble one another.

Common characteristics include: (usually, but not always, under five pounds), delayed growth and small stature, and small head size (microcephaly). Typical facial features include thin eyebrows, which frequently meet at midline, long eyelashes, short upturned nose, and thin down turned lips. Other frequent findings include excessive body hair (hirsutism). Small hands and feet, partial joining of the second and third toes, incurved fifth fingers, gastro esophageal reflux, seizure heart defects, cleft palate, bowel abnormalities, feeding difficulties, and developmental delay. Limb differences, including missing limbs or portions of limbs, usually fingers, hands or forearms, are also found in some individuals. At present the cause is not clearly known, although it is suspected that a gene may be responsible at present there are several research programs underway which are attempting to find answers to the cause of CdLS.

It is suspected that a genes or genes (possibly on chromosome number three) may be responsible. However when asking if CdLS is hereditary the answer would be not in the sense of a gene passing directly from parent to child. It is likely that if a gene is involved, it is simply a rare and random mutation. This mutant gene is almost never passed on to the next generation because affected individuals seldom have children of their own. There have been rare instances in which mildly affected individuals have had children with the syndrome. In most people with CdLS mental retardation is present, Usually ranging from mild to profound.

However the majority falls in the moderate to severe range. One of the most challenging issues for caretakers, educators, and people with CdLS is determining the best communication tool available for their use: speech, signing, communication boards, computers, eat. It is not clear why some children talk and others do not, particularly among the children without obvious differences in physical appearance, it is very clear however that all individuals do communicate. For some people with CdLS, speech develops normally. For most, however, the ability to communicate is greatly influenced by other developmental factors as well as access to early intervention programs and speech therapy. Children who weighed at least 5 pounds at birth, who had no or mild hearing loss, who had no severe upper-limb malformations, who sat by the age of 18 months or walked by the age of 30 months and who were judged to have good social relatedness were much more likely to acquire expressive language skills than those who did not meet these criteria.

Social relatedness included factors such as eye contact, the appearance of comfortableness, alertness, and the child's overall ability to relate to people. When trying to educate a person with CdLS remember to consider all factors including: the child's mental health status, stamina, ability to manage sensory-motor demands, levels of arousal, communicative status, need for structure and organization, relevant goals and objectives, motivating and understandable activities, and appropriate adaptations. More importantly the child with CdLS needs to be an equal partner in interactive and satisfying social experiences. Social equality rests, in part, on helping oneself as much as possible, communication abilities, contribution to others, and shared experiences. CdLS is a topic not known to many including the doctors that are faced with the challenging job of diagnosing it and giving the diagnosis to the parents what I really wanted to learn from and get from this topic choice was not only self awareness for CdLS but also that it does not matter how big or small the topic is being educated at all in it is a step towards being knowledgeable and if people are willing to dig for little stuff the world might be able to find answers to questions we are only even asking right now.