Chelation Therapy:

What if chelation therapy?
It is a treatment that helps remove excess iron, patients undergo "iron chelation therapy," in which a drug is introduced into the body which binds with excess iron and removes it through the urine or stool.

Ways of giving Chelation Therapy
-Intravenous
The only FDA-approved iron chelator was Desferal which has to be administered through a painful and difficult infusion process. When using Desferal(deferoxamine mesylate), a needle is attached to a small battery-operated infusion pump and worn under the skin of the stomach or legs five to seven times a week for up to twelve hours.

Oral
-Exjade.
-This is a pill which is dissolved in water or juice and drunk, once a day.

Many patients now have an option in terms of chelators, and it is hoped that more options will become available in the coming years.

How is it taken? 
It is taken once a day, on an empty stomach, at least 30 minutes before food – preferably the same time each day.
Each tablet is dissolved in water, orange juice or apple juice and the mixture is taken right away.
Use half a cup if the dose is less than 1000mgs (1g) or a full cup (around 200ml) if the dose is more than 1000mgs. Any residue in the cup after taking the suspension should be resuspended in a small volume of water and swallowed.

What are the possible side effects
These are the most severe side effects and must be reported to the doctor promptly.
rash (urticaria)
swelling of face, lips, tongue or throat
in severe cases, there is difficulty in breathing.
Problems in vision and hearing.

Less serious effects are mild upsets with:
stomach pain
nausea, vomiting or diarrhoea
Fever
skin rash
cough, runny or stuffy nose
headache and sinus pain.

Most of these side effects are temporary, at the start of treatment and disappearing in time, without having to stop taking the medicine or reducing the dose

Other facts
Renal and liver function tests are monitored monthly during treatment because reactions in both kidneys and liver have been reported, even though these are rarely serious.
Caution is especially needed in patients who already have impaired kidney or liver function, in whom it is best not to use this drug.

Management & Treatment-Blood Transfusion

BLOOD TRANSFUSION

What is it?
A blood transfusion is when donated blood is given intravenously, directly into your
bloodstream. Usually it is a component of blood which is given.
Red blood cells contain haemoglobin which carries oxygen to your body tissues and organs.Your doctor will decide if you need a transfusion by considering the cause and severity of your anaemia (low haemoglobin), your medical condition and any symptoms.
Generally, if your haemoglobin is:
*below 70 g/L (grams per litre): a transfusion
is often needed
*between 70 and 100 g/L: transfusion may
be necessary
*above 100 g/L: transfusion is not
usually needed.
Platelets help blood to clot. A platelet transfusion may be needed when your platelet numbers are too low or when your platelets don’t work properly.
Plasma works with platelets to clot blood and seal wounds. It is often used in emergencies to help stop bleeding.
BUT, the most common treatment for all major forms of thalassemia is red blood cell transfusions. This is because there is enough total blood in the body, but not enough red blood cells to carry enough oxygen to the tissues. Most patients with a major form of thalassemia receive red blood cell transfusions every two to three weeks, amounting to as much as 52 pints of blood a year. Untreated, thalassemia major leads to heart failure and liver problems, and makes a person more likely to develop infections.

Where does the blood come from?
o To prevent disastrous reactions between the infused blood and the body's defenses, the blood must be typed and marked properly and found to be 'compatible' with the components of the recipient's body. The blood is usually from donors, where the blood has to undergo Microbiology test and Grouping test.

o Providing blood for yourself - Autologous collection
Patients sometimes ask if they can give their own blood before surgery, to be used
instead of donor blood. Although autologous collection and transfusion may sound riskfree,
it is not. Collection of your own blood before surgery is therefore not generally
recommended except in special situations, e.g. rare blood groups when it may be
difficult to obtain matched blood

o Artificial blood has been developed for many years but remains experimental and of doubtful benefit. As indicated above, young patients often can be resuscitated with plasma and other compounds to fill the circulation but there is no real replacement for blood. This means that without volunteer donors, the health care system would be helpless to treat a wide variety of illnesses.

o In some situations, a hormone which stimulates blood formation (erythropoietin, procrit, epogen) can be injected to increase the rate at which you make your own blood. This might prevent subsequent need for transfusion. In such situations, your doctor will wish to give you additional iron to be sure that deficiency of this does not limit blood production.

o It is possible to store blood from selected donors so that should you need blood, this material would be available for use. Published data indicate that these 'directed transfusions' are not safer than are those from our regular blood banks. Stored blood is good only for 3-5 weeks, so that the timing of the collection must be precise. Blood can be processed and frozen for future use. This requires some hours to reconstitute, and there is a loss of cells in the process. Storage is expensive and usually reserved for very rare blood types for which donors cannot readily be found.

What are the risks?
It is not risk free. Severe reactions to blood transfusions are very uncommon, but can result in major consequences and rarely, even death. Immune or allergic reactions may occur. There may be an increased risk of post-operative infection and longer length of hospital stay for surgical patients.
Mild skin reactions or fever occur occasionally (one to two reactions in every hundred
transfusions). Patients who receive regular transfusions are more at risk of such reactions.
Despite screening of all blood donations, the risk of transferring infectious agents (including
hepatitis virus, HIV and bacteria) cannot be ruled out completely. This risk is extremely low.
There are several dangers:

*If the blood is given very quickly such that the heart cannot pump the extra load, fluid may accumulate in the lungs;
*If the blood is incorrectly typed, or if there are components in the body that could not be detected during typing and 'cross matching', the transfused blood cells may be abruptly destroyed with consequent damage to the kidneys with severe illness in the recipient;
*Blood may be contaminated by bacteria during storage which will cause potentially fatal infections in the recipient;

Side effects
Most people who have a blood transfusion do not experience any side effects. But people can have reactions to any blood component. They might have this reaction during or after the transfusion, and some people don’t experience any effects until a few weeks or even months later.

Possible side effects include:

** Fever - Fever is by far the most common side effect of blood transfusions, accounting for more than 90 percent of all transfusion complications. In addition to a fever, some people have chills, shortness of breath, a headache, or nausea. The fever might begin during the transfusion or within the first 24 hours after the transfusion. It can be uncomfortable but is not usually dangerous. Tylenol® (acetaminophen) can often reduce the fever and other symptoms. This fever is often caused by attacks of your antibodies (proteins that protect your body from foreign substances) against white cells in the donated blood. To prevent fever, many blood banks filter out the white blood cells from their blood products. This process is called leukoreduction.
** Allergic reaction - Some patients have an allergic reaction to certain substances in the plasma of the donated blood. These patients often develop hives (also known as urticaria), which are itchy, swollen patches or bumps on the skin. They can also develop wheezing or swollen body tissues. Hives and other allergic symptoms are uncomfortable, but they are not dangerous and they usually go away after the patient takes antihistamines. If you develop an allergic reaction during or after a transfusion, you will probably be treated with an antihistamine beforehand if you have another transfusion.
** Alloimmunization - Sometimes a patient who has received many blood product transfusions develops antibodies against parts of the red blood cells or platelets in a donated unit of blood. This is called alloimmunization and when it happens, the transfused blood products do not work properly. However, alloimmunization does not always cause any symptoms. Alloimmunization can be prevented by giving patients red blood cells that do not have the antigens that the patient’s antibodies attacked or by filtering white blood cells out of the blood product.
** Transfusion-related acute lung injury (TRALI) - This reaction is very rare and very serious. It can even be life-threatening, especially if the patient is already very ill before the transfusion. You might have trouble breathing or develop a high fever. Medicines do not help but TRALI usually goes away by itself. The doctor might recommend oxygen and sometimes a breathing machine to help with the symptoms. If you have had TRALI after a previous transfusion, your doctor will try to prevent this from happening again by using diluted saltwater to remove most of the plasma from the blood.
** Hemolytic reaction - In this very rare condition, the patient’s antibodies attack the transfused red cells and damage or destroy them because the patient’s blood does not match the transfused blood.
o Acute immune hemolytic reaction - The reaction is acute if it happens during the transfusion. Symptoms can include chills, fever, pain in the chest and lower back, a rapid heartbeat, red or dark urine, and nausea. This is the most serious reaction that can happen after a blood transfusion because it can reduce the patient's blood pressure and cause potentially life-threatening bleeding or kidney damage. When a patient has an acute hemolytic reaction, the technician must stop the transfusion as soon as the reaction starts.
o Delayed hemolytic reaction - Hemolytic reactions can also happen gradually, within days or weeks of the transfusion. Symptoms can include a fever and jaundice (yellow skin and eyes), but some patients have no symptoms. This type of reaction is more likely to happen in someone who has had several transfusions before. If a person who has had a delayed hemolytic reaction needs another blood transfusion, the blood units that are transfused must be tested to make sure that they don’t contain the antigen that the patient’s antibodies attacked.
** Infections - In very rare cases, patients get an infection from the transfused blood. Every unit of blood that is donated is tested for bacteria, viruses, and parasites that can cause infections, but none of these tests is completely accurate. The types of infections that can be given to patients from donated blood include:
o Bacteria - Blood can be contaminated by tiny amounts of skin bacteria during the donation process. If patients receive platelets with these bacteria, they can become seriously ill soon after the transfusion starts. Since 2004, blood banks have tested platelets for bacteria before giving the platelets to patients.
o Hepatitis B and C - Hepatitis is the most common disease that can be transmitted by a blood transfusion, although this is extremely rare (the risk is less than 1 in 1 million). Viruses that attack the liver cause hepatitis B and C. Although hepatitis does not necessarily cause any symptoms, it can cause liver failure and other complications. To reduce the risk of transmitting hepatitis through blood transfusions, blood banks ask potential donors about their hepatitis symptoms and risk factors. Blood banks also test donated blood for hepatitis B and C viruses and liver problems that could be signs of other types of hepatitis. Patients can also reduce their risk of hepatitis B infection by getting the hepatitis B vaccine.
o Human immunodeficiency virus (HIV) - HIV is the virus that causes acquired immunodeficiency syndrome (AIDS). Blood banks routinely test every unit of donated blood for HIV and ask potential donors about their HIV risk factors and symptoms. As a result of these precautions, the risk of HIV transmission through a blood transfusion is extremely small—less than 1 in 1.9 million.

**Iron overload - because the hemoglobin in red blood cells is an iron-rich protein, regular blood transfusions can lead to a buildup of iron in the blood.

Consent
Patients must give consent(implied or expressed) before blood transfusion is done. The patient should give consent after understood reasons, risks, alternatives and benefits.

Links
1. http://www.caring4cancer.com/go/cancer/treatment/blood-transfusions/possible-side-effects-of-blood-transfusion.htm
2. http://www.drugs.com/enc/thalassemia.html
3. http://health.yahoo.com/blood-treatment/thalassemia-treatment-overview/healthwise--hw184724.html
4. http://www.personalmd.com/news/transfusion_10022000.shtml
5. http://www.transfusion.com.au/Consent-and-Risk/Consent-Checklist---Multicultural.aspx

6. www.pdn.gov.my/kh_pengenalan.html

7. http://www.nhlbi.nih.gov/health/dci/Diseases/Thalassemia/Thalassemia_Treatments.html

SUMMARY!

• What is Down Syndrome?

• Chromosomal disorder that causes intellectual disability
• Three types of genetic variation that causes Down Syndrome:
• Trisomy 21
• Translocation Trisomy 2
• Mosaic Trisomy 21
  

• Epidemiology

• Incidence in Malaysia - 1 in every 660 births (from KIWANIS)
• Used to be 1 in 950 in an earlier report published in 1989
• Incidence classified into 3 major ethnic groups:

1. Malay – 1 in 981
2. Chinese – 1 in 940
3. Indians - 1 in 860
   

• Incidence according to age groups of mothers who are pregnant: (refer to graph for wider scale of age groups)

1. If woman is under 30 – less than 1/1000
2. If woman is pregnant at 35 – 1 /200
3. If woman is pregnant at 42 – 1/60
4. If woman is pregnant at 49 – 1 / 12

• About 75% of Down Syndrome babies are born to younger woman and 25% of them to older mothers. This is because mothers tend to have more children at a younger age rather than at an older age.

• Risk Factors:

• If your parents are a carrier (Balanced carrier)
• If your parents have Down Syndrome
• If mothers are pregnant at a higher age, there is an increase in risk to have a baby that has Down Syndrome. (usually over 30 years old there is a significant increase in risk)
  

• Signs and symptoms:

• Signs

1. Postnatal - Physical appearance of baby or child ( eg. Dusky eyes at birth, low muscle tone, flat appearance of the face, small ears, upward slanting eye creases, large tongue etc) This can be used to diagnose a child after birth. However, further tests needs to be followed with to confirm it.

• Associated symptoms :

1. Congenital heart defect and associated early onset of pulmonary of hypertension
2. Alzheimer’s disease
3. Leukemia
4. Obstructive digestive tract
5. Seizure disorders Respiratory problems
6. Disturbance in autonomic nervous system Higher tendency to have: Thyroid problems,colds, bronchial complaints skin rashes, sore lips
   

• Diagnosis

1. Prenatal Screening :

• Maternal Serum Screening: Test for hormones -Alpha-fetoprotein,Estriol , Human chorionic gonadotropin, Inhibin A, PAPP-A
  

• Ultrasound Screening
• Amniocentesis
• Chorionic Villus Sampling
• Percutaneous Umbilical Blood Sampling
• Nonstress test
  

• Treatment and Management.

• Management

 Early intervention programme
 Occupational therapy
 Speech therapy
 Special education (inclusion or mainstreaming)
 Special skills training

• Prevention

 Genetic counseling : The recurrent risk of having another child with Down Syndrome depends on the type of chromosomal defect in the child and the age of the parents.
 General recurrence risk is 1% for most cases
 Family planning

Down Syndrome Websites

Below are the websites of foundations that offer support and help to those parents and people who has disabilities in MALAYSIA.

MyHEALTH Portal (More of prevention and rehabilitation can be found here)
http://www.myhealth.gov.my/myhealth/eng/kanak_content.jsp?lang=kanak⊂=0&bhs=eng&storyid=1130130536837#Support%20Groups

Kiwanis Down Syndrome Foundation
http://www.kdsf.org.my/html/about_us_mission.html

Penang Down Syndrome Association
http://www.dsapenang.org/

KDISC Malaysia (The find the list of services that is available in Malaysia, type Down Syndrome in the search box)
http://www.disabilitymalaysia.com/index2.php?type=search

Causes of Down Syndrome

Tmr i will be using this website to explain everything...please check it out from here (:

http://www.yourgenesyourhealth.org/ds/cause.htm

Epidemiology and Risk Factors for Down Syndrome

• Epidemiology
o Incidence in Malaysia - 1 in every 660 births (from KIWANIS)
o Used to be 1 in 950 in an earlier report published in 1989
o Incidence classified into 3 major ethnic groups:
 Malay – 1 in 981
 Chinese – 1 in 940
 Indians - 1 in 860
o Incidence according to age groups of mothers who are pregnant: (refer to graph for wider scale of age groups)
 If woman is under 30 – less than 1/1000
 If woman is pregnant at 35 – 1 /200
 If woman is pregnant at 42 – 1/60
 If woman is pregnant at 49 – 1 / 12






o About 75% of Down Syndrome babies are born to younger woman and 25% of them to older mothers. This is because mothers tend to have more children at a younger age rather than at an older age.


Frequency of different karyotypes among the studied Down syndrome cases and pooled data from worldwide surveys




Correlation of maternal age and chromosomal aberration in Down Syndrome





• Risk Factors:
o If your parents are a carrier (Balanced carrier)
o If your parents have Down Syndrome
o If mothers are pregnant at a higher age, there is an increase in risk to have a baby that has Down Syndrome. (usually over 30 years old there is a significant increase in risk)

What is down syndrome?

What Is Down Syndrome?
Down Syndrome is the world’s most common chromosomal disorder and a cause of intellectual disability. It occurs in one of every 700 to 900 births worldwide and affects people of all ethnic and social backgrounds.
Three types of genetic variation that cause Down Syndrome:
1)Trisomy 21
• Presence of extra chromosome 21 in all cells of an individual
• Extra chromosome originates in the development of either the egg or sperm
• When egg and sperm unite to form fertilized egg, 3 chromosome 21 are present
• As embryo develops, extra chromosome is repeated in every cell
• A condition where 3 copies of chromosome 21 are present in all cells of an individual is known as trisomy 21
2) Mosaic trisomy 21
• Similar to trisomy 21 but here the extra chromosome 21 is present in some but not all the cells of an individual
• An individual with Down Syndrome due to mosaic trisomy 21 will have 46 chromosomes in some cells but will have 47 chromosomes(including an extra chromosome 21) in others
3)Translocation Trisomy 21
• In the earlier two conditions, Down Syndrome occurs because some or all the cells have 47 chromosomes
• However there are some individuals with Down Syndrome having cells containing only 46 chromosomes
• This is because material from one chromosome 21 gets stuck or is traslocated onto another chromosome
• In such situations, cells from individuals with Down Syndrome have 2 normal chromosome 21 but also have additional chromosome 21 material on the traslocated chromosome
• Since there is too much material from chromosome 21 this results in features associated with Down Syndrome

Down Syndrome affects but does not determine development. People with Down Syndrome are unique, with their own talents, abilities, thoughts and interest. Everyone with Down Syndrome will experience some delay in all areas of development and some degree of learning disability. This however varies significantly from individual to individual.

Treatment, Management

Inclusion

In a growing number of schools across the United States, it is now possible to walk into elementary, middle and secondary classrooms and observe students with Down syndrome and other cognitive and physical disabilities learning with their nondisabled peers. This practice of welcoming, valuing, empowering and supporting diverse academic and social learning among students of all abilities is called Inclusive education.

Inclusive education is more than mainstreaming. Mainstreaming implies that a student from a separate special education class visits the regular classroom for specific, usually non-academic, subjects. Inclusion is an educational process by which all students, including those with disabilities, are educated together for the majority of the school day. With sufficient support, students participate in age-appropriate, general education programs in their neighborhood schools.

Inclusion is a philosophy of education based on the belief in every person’s inherent right to fully participate in society. Inclusion implies acceptance of differences. It makes room for the person who would otherwise be excluded from the educational experiences that are fundamental to every student’s development.

When inclusion is effectively implemented, research has demonstrated academic and social benefits for all students: both those who have special needs as well as typical students. Friendships develop, nondisabled students are more appreciative of differences and students with disabilities are more motivated. True acceptance of diversity ultimately develops within the school environment and is then carried into the home, workplace and community.

Benefits of Inclusion

A number of studies over the years have reported the various benefits of inclusive education. In 1996, the National Down Syndrome Society published a research report on the inclusion of children with Down syndrome in general education classes1. After analyzing and comparing extensive parent and teacher questionnaires, this study found that with proper support and adequate communication between parents, teachers and professionals, inclusion is a favorable educational placement for children with Down syndrome. The study also found that the learning characteristics of students with special needs were more similar to their nondisabled peers than they were different. Moreover, teachers reported positive experiences with students with Down syndrome. They described their students as eager to learn, especially when encouraged, and reported personal satisfaction in terms of their professional achievements.

Literature documenting successful inclusion practices is significant and growing. An analysis by Baker, Wang and Walberg in 1994 concluded that “special-needs students educated in regular classes do better academically and socially than comparable students in non-inclusive settings2.” Research by Hollowood et al., (1995) found inclusion was not detrimental to students without disabilities3. In fact, a national study of inclusive education conducted in 1995 by the National Center on Educational Restructuring and Inclusion (NCERI) reported academic, behavioral and social benefits for students with and without disabilities4. The study also concluded that students within each of IDEA’s 13 categories of disability, at all levels of severity, have been effectively integrated into general education classrooms. NCERI also reported positive outcomes and high levels of professional fulfillment for teachers. A number of other studies confirming the educational and social benefits of inclusion for students with and without disabilities can be found in the reference list at the end of this publication5,6,7.

In May 2000, the Indiana Inclusion Study8 investigated the academic benefits of inclusive education for students without disabilities. This study concluded that students without disabilities who were educated in inclusive settings made significantly greater progress in math than their peers. Although their progress in reading was not significantly greater than their peers, there was a “consistent pattern” in their scores that favored educating students without disabilities in inclusive settings.

This and other research has highlighted improved academic skills, social skills, communication skills and peer relationships as four of the most important benefits of inclusion. Nondisabled students can serve as positive speech and behavior role models for those with disabilities and students with disabilities offer their nondisabled peers acceptance, tolerance, patience and friendship. As allies and friends, peers can offer support both in and out of the classroom. These findings show that everyone involved in inclusive schooling can benefit from the experience.

The introduction to the Individuals with Disabilities Education Act acknowledges that education in inclusive settings works when the mandates of the law are followed. It states:

Almost 30 years of research and experience has demonstrated that the education of children with disabilities can be made more effective by:

• having high expectations for such children and ensuring their access to the general education curriculum in the regular classroom, to the maximum extent possible, in order to--
• meet developmental goals and, to the maximum extent possible, the challenging expectations that have been established for all children; and be prepared to lead productive and independent adult lives, to the maximum extent possible;
• strengthening the role and responsibility of parents and ensuring that families of such children have meaningful opportunities to participate in the education of their children at school and at home;
• coordinating this title with other local, educational service agency, State, and Federal school improvement efforts, including improvement efforts under the Elementary and Secondary Education Act of 1965, in order to ensure that such children benefit from such efforts and that special education can become a service for such children rather than a place where such children are sent;
• providing appropriate special education and related services, and aids and supports in the regular classroom, to such children, whenever appropriate;
• supporting high-quality, intensive preservice preparation and professional development for all personnel who work with children with disabilities in order to ensure that such personnel have the skills and knowledge necessary to improve the academic achievement and functional performance of children with disabilities, including the use of scientifically based instructional practices, to the maximum extent possible;
• providing incentives for whole-school approaches, scientifically based early reading programs, positive behavioral interventions and supports, and early intervening services to reduce the need to label children as disabled in order to address the learning and behavioral needs of such children;
• focusing resources on teaching and learning while reducing paperwork and requirements that do not assist in improving educational results; and
• supporting the development and use of technology, including assistive technology devices and assistive technology services, to maximize accessibility for children with disabilities.

Inclusive education has also been shown to have a positive impact on employment outcomes. A 1988 study by Affleck et al., spanning fifteen years, found that students with disabilities educated in inclusive settings had an employment rate of 73 percent while those in segregated programs had an employment rate of 53 percent9. Ferguson and Asch (1989) found that the more time students with disabilities spent in regular classes, the more they achieved as adults in employment and continuing education10. More recently, in its 1997 annual report to Congress, the U.S. Department of Education noted: “across a number of analyses of post-school results, the message was the same: those who spent more time in regular education experienced better results after high school11.” As nearly all employment settings are themselves inclusive, involving people with and without disabilities, it is easy to imagine why inclusive education has a positive impact on employment outcomes.

Speech and language therapy

Feeding:

Speech is a secondary function that uses the same anatomic structures used for feeding and respiration. Low muscle tone (hypotonia) affects feeding and will also affect speech. In feeding, children gain practice with strengthening and coordinating the muscles that will be used for speech. If your child has difficulty feeding, it is important to seek guidance from a feeding specialist (a speech-language pathologist or occupational therapist who has advanced training). Feeding therapy can to help strengthen the oral muscles. This can also have a positive effect on speech.

Other skills:

Other important pre-speech and pre-language skills are the ability to imitate and echo sounds; turn-taking skills (learned through games such as peek-a-boo); visual skills (looking at the speaker and looking at objects); auditory skills (listening to music and speech for lengthening periods of time, listening to speech sounds); tactile skills (learning about touch, exploring objects in the mouth); oral motor skills (using the tongue, moving lips); and cognitive skills (understanding object permanence, cause and effect relationships).  The family can stimulate these pre-speech and language skills at home. Contact Child Find in your area, and ask for speech-language pathology services for your child. The SLP can help you learn the skills that you need to help your child move along the journey to learning language and using speech.

When should speech-language pathology services begin? What is early language intervention?

 

Speech-language pathology services can begin in infancy. Treatment may involve sound stimulation, language stimulation accompanying play, feeding, oral motor exercises and/or other techniques. It should always include the family as a partner in treatment because the family is the primary teacher of speech and language. Early language intervention (ELI) is the designation given for services provided to infants and toddlers from birth through the end of age two. Speech-pathology services should be part of a comprehensive overall treatment plan for infants and toddlers. It may involve sessions at home or in a center, and may be part of a team approach involving physical, occupational and other therapists working together with the family.

 

A government-sponsored early intervention program is available in all communities in the U.S. Speech-language and other therapy services are often provided at these programs for eligible children under age three, based on disability and an evaluation. Most children with Down syndrome qualify for speech-language services. After age three, there may be continuing services sponsored through the school system with an IEP  or through community agencies, private practitioners, university clinics, medical centers and other sources.

 

Infants and Preschool Children

Medical care for infants with Down syndrome should include the same well-baby care that other children receive during the first years of life, as well as attention to some problems that are more common in children with Down syndrome. If heart, digestive, orthopedic or other medical conditions were identified during the neonatal period, these problems should continue to be monitored.

During the early years of life, children with Down syndrome are 10-15 times more likely than other children to develop leukemia, a potentially fatal disease. These children should receive an appropriate cancer therapy, such as chemotherapy. Infants with Down syndrome are also more susceptible to transient myelodysplasia, or the defective development of the spinal cord.

Compared to the general population, individuals with Down syndrome have a 12-fold higher mortality rate from infectious diseases, if these infections are left untreated and unmonitored. These infections are due to abnormalities in their immune systems, usually the t-cell and antibody-mediated immunity functions that fight off infections. Children with Down syndrome are also more likely to develop chronic respiratory infections, middle ear infections, and recurrent tonsillitis. In addition, there is a 62-fold higher incidence of pneumonia in children with Down syndrome than in the general population.

Children with Down syndrome may be developmentally delayed. A child with Down syndrome is often slow to turn over, sit, stand, and respond. This may be related to the child's poor muscle tone. Development of speech and language abilities may take longer than expected and may not occur as fully as parents would like. However, children with Down syndrome do develop the communication skills they need.

Parents of other children with Down syndrome are often valuable sources of information and support. Parents should keep in mind that children with Down syndrome have a wide range of abilities and talents, and each child develops at his or her own particular pace. It may take children with Down syndrome longer than other children to reach develop mental milestones, but many of these milestones will eventually be met. Parents should make a concerted effort not to compare the developmental progress of a child with Down syndrome to the progress of other siblings or even to other children with Down syndrome.

Early Intervention and Education

The term "early intervention" refers to an array of specialized programs and related resources that are made available by health care professionals to the child with Down syndrome. These health care professionals may include special educators, speech therapists, occupational therapists, and social workers. It is recommended that stimulation and encouragement be provided to children with Down syndrome.

The evaluation of early intervention programs for children with Down syndrome is difficult, due to the wide variety of experimental designs used in interventions, the limited existing measures available that chart the progress of disabled infants, and the tremendous variability in the developmental progress among children with Down syndrome, a consequence in part of the many complicating medical factors. While many studies have been conducted to assess the effects of early intervention, the information is limited and contradictory regarding the long-term success of early intervention for children with Down syndrome.

However, federal laws (Public Law 94-142) are in place to ensure each state has as a goal that "all handicapped children have available to them a free public education and related services designed to meet their unique needs." The decision of what type of school a child with Down syndrome should attend is an important one, made by the parents in consultation with health and education professionals. A parent must decide between enrolling the child in a school where most of the children do not have disabilities (inclusion) or sending the child to a school for children with special needs. Inclusion has become more common over the past decade.

Adolescence

Like all teenagers, individuals with Down syndrome undergo hormonal changes during adolescence. Therefore, teenagers with Down syndrome should be educated about their sexual drives. Scientists have medical evidence that males with Down syndrome generally have a reduced sperm count and rarely father children. Females with Down syndrome have regular menstrual periods and are capable of becoming pregnant and carrying a baby to term.

Adults with Down Syndrome

The life expectancy for people with Down syndrome has increased substantially. In 1929, the average life span of a person with Down syndrome was nine years. Today, it is common for a person with Down syndrome to live to age fifty and beyond. In addition to living longer, people with Down syndrome are now living fuller, richer lives than ever before as family members and contributors to their community. Many people with Down syndrome form meaningful relationships and eventually marry. Now that people with Down syndrome are living longer, the needs of adults with Down syndrome are receiving greater attention. With assistance from family and caretakers, many adults with Down syndrome have developed the skills required to hold jobs and to live semi-independently.

Premature aging is a characteristic of adults with Down syndrome. In addition, dementia, or memory loss and impaired judgment similar to that occurring in Alzheimer disease patients, may appear in adults with Down syndrome. This condition often occurs when the person is younger than forty years old. Family members and caretakers of an adult with Down syndrome must be prepared to intervene if the individual begins to lose the skills required for independent living.

Various traditional and alternative treatment methods for Down syndrome have been popular over the years including the use of pituitary extract, glutamic acid, thyroid hormone, 5-hydroxytryptophan, dimethyl sulfoxide (DMSO), dihydroepiandosterone, sicca cell therapy and growth hormone. Some treatments, such as sicca cell therapy, have proven to be dangerous. More recently, the orthomolecular approach to treatment using various combinations of vitamins, minerals, enzymes and amino acids have been revisited

 i got some additional information from this site.. please forgive me as this is not much.. i shall add to this for the presentation for friday n will also upload it..

Screening

Prenatal
Maternal Serum Screening
15th to 18th week with a detection rate of 95% and 5% false positives.
Blood sample is collected and levels of hormone will be analyzed to determine risk. Sometimes called the triple test or the quadruplet screening, depending on the hormone test available.

Alpha-fetoprotein is made in the part of the womb called the yolk sac and in the fetal liver, and some amount of AFP gets into the mother's blood. In neural tube defects, the skin of the fetus is not intact and so larger amounts of AFP is measured in the mother's blood. In Down syndrome, the AFP is decreased in the mother's blood, presumably because the yolk sac and fetus are smaller than usual.

Estriol is a hormone produced by the placenta, using ingredients made by the fetal liver and adrenal gland. Estriol is decreased in the Down syndrome pregnancy.

Human chorionic gonadotropin hormone is produced by the placenta, and is used to test for the presence of pregnancy. A specific smaller part of the hormone, called the beta subunit, is increased in Down syndrome pregnancies.

Inhibin A is a protein secreted by the ovary, and is designed to inhibit the production of the hormone FSH by the pituitary gland. The level of inhibin A is increased in the blood of mothers of fetuses with Down syndrome.

PAPP-A, which stands for pregnancy-associated plasma protein A, is produced by the covering of the newly fertilized egg. In the first trimester, low levels of this protein are seen in Down syndrome pregnancies.

Once the blood test results are determined, a risk factor is calculated based on the "normal" blood tests for the testing laboratory. The average of normals is called the "population median." Test results are sometimes reported to doctors as "Multiples of the Median (MoM)." The "average" value is therefore called 1.0 MoM. Down syndrome pregnancies have lower levels of AFP and estriol, so their levels would be below the average, and therefore less than 1.0 MOM.

Ultrasound Screening
Also known as nuchal translucency, because the ultrasound is used to measure the width of the nuchal area (fluid compartment behind the neck)

Women need to have a full bladder for a transabdominal ultrasound (an ultrasound of the belly) to be performed in the early months — you may be asked to drink a lot of water and not urinate. You'll lie on an examining table and your abdomen will be coated with a special ultrasound gel. A technician will pass a wand-like instrument called a transducer back and forth over your abdomen. You may feel some pressure as the technician presses on the bladder. High-frequency sound waves "echo" off your body (and the fetus) and create a picture of the fetus inside on a computer screen.

Sometimes, if the technician isn't able to see a good enough image from the ultrasound, he or she will determine that a transvaginal ultrasound is necessary. This is especially common in early pregnancy. For this procedure, your bladder should be empty. Instead of a transducer being moved over your abdomen, a slender probe called an endovaginal transducer is placed inside your vagina.

The following tests:
Your health care provider may recommend them if you:
• are older than age 35
• have a family history of genetic disorders (or a partner who does)
• have a previous child with a genetic disorder or had a previous pregnancy with a chromosomal abnormality
• have had an earlier screening test that indicates that there may be a concern

Amniocentesis
This procedure is used to collect amniotic fluid, the liquid that is in the womb (13th to 18th week). A needle is inserted through the mother's abdominal wall into the uterus, using ultrasound to guide the needle. Approximately one ounce of fluid is taken for testing. This fluid contains fetal cells that can be examined for chromosome tests. It takes about 2 weeks to determine if the fetus has Down syndrome or not. Risk of miscarriage is 1%.

It carries a low risk of uterine infection, leakage of amniotic fluid, and injury to the fetus.

Chorionic Villus Sampling (CVS) (10th to 12th week)
In this procedure, instead of amniotic fluid being taken, a small amount of tissue is taken from the young placenta (also called the chorionic layer). These cells contain the fetal chromosomes that can be tested for Down syndrome. The cells can be collected the same way as the amniocentesis, but another method is to insert a tube into the uterus through the vagina. Risk of miscarriage is 2%. Early on in the use of CVS, a number of babies were identified with missing or shortened fingers or toes. However, that has been connected to the use of CVS before the 10th week of pregnancy.
Its advantage over an amniocentesis is that it can be performed earlier, allowing more time for expectant parents to receive counseling and make decisions.

Transcervical. Using ultrasound as a guide, a thin tube is passed from the vagina into the cervix. Gentle suction removes a sample of tissue from the chorionic villi. Some women experience cramping with the removal.
Transabdominal. A needle is inserted through the abdominal wall with ultrasound guidance, and a sample of the chorionic villi is removed. Cramping may be felt with this approach as well.
Results available in 2 weeks.

Percutaneous Umbilical Blood Sampling (PUBS) (after 18 weeks)
This test obtains fetal blood by guiding a needle into the umbilical cord. It's primarily used in addition to an ultrasound and amniocentesis if your health care provider needs to quickly check your baby's chromosomes for defects or disorders.

Nonstress Test (26 to 28 weeks)
A nonstress test (NST) can determine if the baby is responding normally to a stimulus. Used mostly in high-risk pregnancies or when a health care provider is uncertain of fetal movement, an NST can be performed at any point in the pregnancy after the 26th to 28th week when fetal heart rate can appropriately respond by accelerating and decelerating.

The health care provider will measure the response of the fetus' heart rate to each movement the fetus makes as reported by the mother or observed by the doctor on an ultrasound screen. If the fetus doesn't move during the test, he or she may be asleep and the health care provider may use a buzzer to wake the baby. You also may be asked to drink or eat to try to stimulate the baby more.

http://www.diagnosticultrasound.org.uk/nuchal_translucency.htm
http://kidshealth.org/parent/system/medical/prenatal_tests.html
http://www.ds-health.com/prenatal.htm

please visit
http://www.babycentre.co.uk/pregnancy/antenatalhealth/scans/nuchalscan/
or
http://www.babycenter.ca/pregnancy/antenatalhealth/scans/nuchalscan/
to see the differences of the NT scan for a normal baby and a down syndrome baby.

Postnatal
After the patient is diagnosed using the signs and symptoms, a blood sample is taken to make a karyotype. This will show any abnormalities in the genes.


Trisomy 21 :)

Signs and Symptoms of DS

Signs and Symptoms

-dusky color at birth
-low muscle tone
-flat appearance of the face
-upward slanting eye creases
-small ears
-deep single skin crease on palm
-extremely flexible joints
-large tongue
-white spots in iris of the eye
-small hands
-small feet

COMPLICATION

• During the first days and months of life, some disorders can be diagnosed immediately
  
  • Enlargement of thyroid gland
    
  • Disturbance in the autonomic nervous system
    
  • Congenital hypothyroidism
    
    • abnormally low thyroid hormone production
      
• Congenital heart defect and associated early onset pulmonary hypertension:
  
  • Problems with the heart's structure that is present at birth. These defects can involve the interior walls of the heart, valves inside the heart, or the arteries and veins that carry blood to the heart or out to the body. Congenital heart defects change the normal flow of blood through the heart.
    
  • Up to 50% of individuals with Down syndrome are born with congenital heart disease. However it can now be surgically corrected resulting in long-term health improvement
    
• Alzheimer's disease
  
  • A slowly progressive disease of the brain that is characterized by impairment of memory and eventually by disturbances in reasoning, planning, language, and perception.
    
  • 25% or more of individuals with Down syndrome over the age of 35 will develop the clinical signs & symptoms of Alzheimer's type dementia.
    
• Leukaemia
  
  • A cancer of the blood or bone marrow and is characterized by an abnormal proliferation (production by multiplication) of blood cells, usually leukocytes.
    
  • 1% of individuals with Down syndrome will develop it. The majority of cases are categorized as acute megakaryoblastic leukaemia. It tends to occur in the first three years of life and it has a high cure rate. A transient form leukaemia is also seen in newborns with Down syndrome. It disappears spontaneously during the first two to three months of life.
    
• Obstructive digestive tract
  
• Problems with hearing and vision, which may affect language and learning skills
  
  • Hearing loss may be due to fluid build-up in the inner ear or structural problem of the ear.
    
  • Vision problems ranges from amblyopia (lazy eye), near of farsightedness, or an increased risk of cataracts.
    
• Seizure disorders
  
• Respiratory problems
  
• Obesity
  
• Have higher tendency to have:
  
  • Thyroid problems
    
  • Colds
    
  • Bronchial complaints
    
  • Ear infections
    
  • Skin rashes
    
  • Sore lips
    

DOWN SYNDROME!

Dear All, since we are doing down syndrome for next week, it is of the utmost importance that we prepare before we come for PCL... dam formal right.. AHHAHA...

JUST READ THIS LA! (: ITS REALLY GOOD!

DOWN SYNDROME WEBSITES -
http://www.ndss.org/
http://www.yourgenesyourhealth.org/ds/whatisit.htm
http://www.nlm.nih.gov/medlineplus/downsyndrome.html
http://www.nichd.nih.gov/publications/pubs/downsyndrome.cfm#ADiagnosis

Summary

Summary:

1) Pathophysiology of breast cancer

Breast cancer means uncontrolled growth of breast cells (which forms tumours), as a result of mutations/abnormal changes in the genes responsible for regulating the growth of cells and keeping them healthy.

The two broad categories of genes affected by genetic changes:

a) Oncogenes (expression of these genes promote the malignant phenotype of cancer cells)

b) Tumour suppressor genes (BRCA 1 and BRCA- involved in the repair of damaged DNA, play a role in maintaining the stability of the human genome )

Common form of breast cancer :
-Ductal Carsinoma In Situ (DCIS)
Ductal epithelial cells undergo malignant transformation and proliferate intraluminally.

-Lobular Carsinoma In Situ (LCIS)
↑ in the no. of cells within the lobules

-Infiltrating Ductal Carsinoma (invasive)
Tendency to metastasize via lymphatics

-Infiltratiltrating Lobular Carsinoma (invasive)
Begins in lobules , able to metastasize (lymph nodes)

Less common form of breast cancer :
-Tubular Carcinoma
Forms distinct boundary between tumor tissue and normal tissue.

-Mucinous Carcinoma
Mucus-producing cancer cells

-Medullary Carcinoma
Poorly differentiate tumor

-Inflammatory breast cancer
Inflamed breast

-Paget’s disease of the nipple
Nipple changes, No lump is felt

-Phylloides tumor
Develop in the connective tissues of the breast.
Treated by surgical remove.

2) Risk factors of breast cancer

- General risk factors:

a) Gender

b) Aging

c) Genetic risk factors

d) Family history of breast cancer

e) Race and ethnicity

f) Personal history of breast cancer

g) Dense breast tissue

h) Certain benign breast conditions

i) Menstrual periods

j) Previous chest radiation

- Lifestyle related factors:

a) Not having children, or having them later in life

b) Recent oral contraceptive use

c) Using post-menopausal hormone therapy

d) Not breast-feeding

e) Alcohol

f) Being overweight or obese

g) Lack of physical activity

Ways to prevent breast cancer

1. Maintain a healthy body weight (BMI less than 25) throughout your life.

2. Minimize or avoid alcohol.

3. Consume as many fruits and vegetables as possible.

4. Exercise regularly the rest of your life.

5. Do your fats right!

6. Do your carbs right!

7. Consume whole food soy products regularly

8. Minimize exposure to pharmacologic estrogens and xeno-estrogens.

9. Take your supplements daily.

10. Maintain a positive mental outlook.

11. Follow early detection guidelines.

3) Genetics of breast cancer

Main Genes related to Breast Cancer:
1) BReast CAncer gene 1 (BRCA1)
>Provides instruction in repairing damaged DNA.
>Regulate activities of other genes
>Involve in embryonic development
>Regulate cell division
>Mutation
*Unable to help repair damaged DNA
*Unable to fix mutation

2) BReast CAncer gene 2 (BRCA2)
>Provides instruction in repairing damaged DNA.
>Maintaining the stability of a cell’s genetic information
>Regulate cytokinesis

4) Management and Investigation

Screening:

a) Screening Test (ST)- for healthy people

Clinical breast examination, screening mammogram, breast self examination

b) Diagnostic Test (DT)- for people suspected of breast cancer

Clinical breast exam, diagnostic mammograms, ultrasound, MRI, biopsy, hormone receptor test

Staging:

Stage 0 – carcinoma in situ (abnormal cells remain in the tissue where they first formed)

Stage 1 – early stage of invasive breast cancer (<>

Stage 2 – size of tumours, spread to lymph nodes under the arm?

<2cm>
2-5cm No
2-5cm Yes
>5cm No

Stage 3 - locally advanced cancer (spread from where it started to nearby tissue or lymph nodes)

3A - < / > 5 cm across, spread to underarm lymph nodes, and those behind of breastbone

3B – grown into chest wall / skin of the breast, spread to underarm lymph nodes and those behind of breastbone, inflammatory.

3C – any size, spread to lymph nodes behind breastbone and under the arm, above or below the collarbone.

Stage 4 – distant metastatic cancer

Treatment:

1) Breast sparing surgery (remove lump only)

2) Mastectomy

Simple - removal of whole breast, some lymph nodes under arm removed removed

Radical - removal of whole breast + most/all lymph nodes under arm, lining over the chest muscles is often removed.

3) Radiation Therapy

4) Chemotherapy – anticancer drugs used to kill cancer cells

5) Hormone Therapy – lower the amount of hormone in body OR block action of estrogen on body

6) Targeted Therapy – helps immune system fight cancer

Care after Treatment:

1) Breast reconstruction - using implants (saline or silicon or both), or either the stomach or back muscles

2) External Prostheses – made of silicon gel

3) Follow up treatment – regular checkups for emotional wellbeing and support, mammograms, clinical exam