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Down Syndrome and Reconstructive Surgery

The research/analysis portion of my culminating task for Science and Society (1st year) at the University of Guelph. Enjoy! Although it is somewhat incomplete because I had to copy and paste this stuff into a different program.

Sydney Withers

on 8 May 2013

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Transcript of Down Syndrome and Reconstructive Surgery

The topic I have chosen for my case is a crucial decision some parents of Down Syndrome children make for their child. They choose to have their child’s features reconstructed through cosmetic surgery because they believe their child will be stigmatized less and that social integration will be easier for them. An Introduction to My Case Let's take a look at how my academic journey began. All it took was an initial search for the topic of the case analysis, The Down's Syndrome Association is committed to supporting families and their children with Down's syndrome. We do question, however, why some parents need to choose cosmetic surgery for their children, with all the discomfort and risk that any form of surgery entails. Hiding a child's disability also sends out mixed messages, not only to wider society, but possibly to the child itself.
Society must learn to accept people with Down's syndrome for what they are. Public perceptions and understanding have improved in recent years but we clearly have some way to go while demand for this type of surgery remains. A vital part of our role is to educate the public, helping them to understand and accept the contribution of people with Down's syndrome. (Down's Syndrome Association c2013) A hint of compassion and interest toward the topic, We were convinced that we didn't want to be the parents of a child with Down syndrome. I knew that people would think we could handle it, but we were positive we couldn't. How could we have been so sure? The first five minutes we spent with Hope was the longest time we had ever spent with someone with Down syndrome. How could we ever have known our daughter before she was born? We never considered that Hope would love "Little Bear" or have freckles or have Mrs. McSherry for preschool just like her sisters did. It never dawned on us that Hope would teach us all to sign our ABC's. How could we have known that she'd be the first one to comfort us when we were sad, waiting anxiously for us to smile and then cheer, "No cry!"

Maybe we didn't consider it because Hope helps us feel things more deeply than we expect to. Hope doesn't just tell us she's happy, excited, or proud, she pulls us in so that we feel as strongly as she does. Each day is filled with ordinary moments" Hope completing a puzzle on her own, jumping higher than she did the day before, Daddy coming home from work, dancing in the kitchen, but Hope's response to these moments makes us all feel like we are on the top of the mountain in the opening scene of the Sound of Music. We loved the idea of Hope before she was born, but we had no idea how much we'd love her once we got to know her! - Rosalie Forster, Worcester, MA. (National Down Syndrome Society 2012) And some initial research to determine whether this case presented an issue that could be analyzed intensively from an interdisciplinary point of view. An Intersection Between Science and Society The science and societal counterparts of this case are intricate, and understanding aspects of both sides are essential in considering why reconstructive surgery is considered by some families.

Science and social science interact in this case because influences that affect decisions involving the surgery include the family's understanding of their child's syndrome and their awareness of the health concerns that are associated with it.

Another crucial interaction to be examined involves the diagnosis period between the family and the healthcare system. How the diagnosis is shared with the family and the level of support they are provided by their primary health care provider all play a role in how the family may carry out their role as parents of a Down Syndrome child. Another intersection between society and science in this case involves the features of the reconstructive surgery itself and what it entails. There is an intersection present between the change in the child's appearance and how society and the family react to these changes.

Another example is the use of complementary and alternative medicine interventions by parents of Down Syndrome children. There is an intersection present between these intervention methods and how they influence the child's interactions with their family and society, or if the methods meet their claims in the first place. With some consideration of the intersections between the science and societal counterparts of the case, it has become clear that this case can be analyzed from an interdisciplinary point of view. In fact, by focusing on the issue using both aspects, a much more scholarly and well rounded conclusion will be made. After connecting science and society, I revisited the initial article to create a list of research questions to be illustrated from the information presented: Questions pertaining to the science aspects of the case are: What is a syndrome? and What is Down Syndrome?

What surgeries or early medical interventions might a child with Down Syndrome require?

What is reconstructive surgery, what does it involve, and how does it change the child's appearance?

What complementary/alternative interventions or managements are used for Down Syndrome children? Questions pertaining to the familial and societal aspects of this case are: A question pertaining to the psychological aspect of this case is: What are the psychosocial effects of the surgery on the Down Syndrome child and their family? How is the family impacted by the birth of a child with Down Syndrome? and
How does the role of the family change?

How are Down Syndrome children stigmatized by society?

How does the environment differ between the children who have undergone the reconstructive surgery and the children who have not? From here on out, the questions asked from both a science society/familial perspective will be answered. This involves a departure from the tip of the iceberg down into the hidden complexities of the case and all of the features that will sculpt the final conclusion. What is a syndrome? and What is Down Syndrome? A syndrome, particularly Down Syndrome, is a collection of physical signs and behaviours.

Physical signs include: Behavioural challenges include:
- flat nose - impulsive behaviour
- small ears and mouth - poor judgement
- eyes that are slanted upward - slow learning
- wide, short hands and fingers - short attention span
- excess skin at the back of the neck
- reduced muscle tone (PubMed Health c2012) Most importantly, these collective signs and behaviours are most often caused by an additional copy of the 21st chromosome (PubMed Health c2012). This genetic alteration causes an interference with body and brain development thereby producing the hallmarks of Down Syndrome (PubMed Health c2012). (National Human Genome Research Institute 2013) To the left is a karyotype of an individual with Down Syndrome. The pinpoint cause of an additional chromosome 21 is unclear. Researchers have predicted a polymorphism, though when the method was replicated, the hypothesis did not reproduce (Roizen and Patterson 2003). From Roizen and Patterson's research and review, exciting research has been discovered about the Down Syndrome gene. The estimated gene content of chromosome 21 is approximately 329 genes (Roizen and Patterson 2003). Of these genes:
- 16 participate in mitochondrial activity which have been associated dysfunctional mitochondria to Down Syndrome
- 10 participate in central nervous system function and structure, which accounts for neuropathogenesis that occurs in individuals with Down Syndrome
(Roizen and Patterson 2003) Now that the physical signs, behaviour, and genetic basis of Down Syndrome have been covered, a crucial next point is to understand the diagnostics of the syndrome. Diagnostics The diagnosis of Down Syndrome has been available prenatally since the 1970s (Roizen and Patterson 2003).

Methods include:
- pre/postnatal chromosome analysis (Roizen and Patterson 2003)
- postnatal evaluation of physical appearance
- stethoscope used to hear for a possible heart murmur
- postnatal chromosome analysis performed using a blood test
(PubMed Health c2012) Directly after birth, the Down Syndrome child is tested for:

Congenital Heart Disease

Hearing Loss

Ophthalmological Problems (relating to the eye) Health Complications (PubMed Health c2012) Congenital Heart Disease: A problem with the structure and function of the heart that is present at birth (PubMed Health c2012). Congenital heart disease effects approximately 50% of all individuals with Down Syndrome (Roizen and Patterson 2003). After birth, the infants are assessed using an echocardiogram (Roizen and Patterson 2003). An echocariogram is a test that uses sound waves to create a dynamic image of the heart (PubMed Health c2o12).

The most common lesions that are discovered in these infants are atrioventricular septal defect (discovered in 45% infants with Down Syndrome) and ventricular septal defect (35%) (Roizen and Patterson 2003). Both defects are defined as holes in the walls of the ventricular chambers of the heart (PubMed Health c2012). Hearing Loss Ophthalmological Problems (PubMed Health c2011) A broad percentage of children with Down Syndrome (38-78%) are at risk of losing their sense of hearing (Roizen and Patterson 2003). These problems with hearing are associated with a disrupted structure of the ear, for example otitis media (PubMed Health c2012). Otitis media refers to a middle-ear inflammation which creates limited mobility of the membranes in the ear (PubMed Health c2012). Management of problems that arise with their sense of hearing includes medical treatment of otitis media, a tonsillectomy or adenoidectomy, speech therapy, hearing aids, or a cochlear implant as depicted in the above figure (Roizen and Patterson 2003). (Also known as problems relating to the eye) The ophthalmological problems that effect children with Down Syndrome include glaucoma and cataracts (Roizen and Patterson 2003). Glaucoma involves symptoms that cause damage to the optic nerve, the nerve that transmits signals from the eye to the brain (PubMed Health c2011). The damage is often caused by a pressure that builds inside the eye, as depicted by the image to the right (PubMed Health c2011). (PubMed Health c2011) Cataracts occur when the lens, the part of the eye that focuses light, becomes cloudy (PubMed Health c2011). Both of these problems with the eye may occur as a congenital complications (PubMed Health c2011). As well, the frequency of ophthalmological problems for children with Down Syndrome increases with age, meaning:
- their chance of having these problems increases AND
- if they already have these issues, the severity will increase without adequate intervention or management (Roizen and Patterson 2003) Now that we know much more about Down Syndrome itself and some of the health concerns faced by a newborn child, it's time to take a closer look at the management of some of these health concerns. What surgeries or early medical interventions might a child with Down Syndrome require? Congenital Heart Disease As a reminder, it effects 40-60% of Down Syndrome children (Fudge et al. 2010). The five most common surgeries received by the young child are:
1. atrial septal defect closure
2. ventricular septal defect closure
3. complete atrioventricular septal defect repair
4. mitral valve repair or replacement
5. tetralogy of Fallot repair To put these types of surgeries into perspective, it is important that this analysis discusses the details of the cardiac lesions that can occur in Down Syndrome children. An atrial septal defect includes lesions that have remained present between the atria (upper chambers) of the heart after birth instead of closing (PubMed Health c2012). In the long term, without a medical intervention such as heart surgery to assist in the closure of the lesions, blood flow to the lungs will be extreme, causing pressure to build in the lungs (PubMed Health c2012).
A child or infant who is experiencing the symptoms that are associated with a lesion of this sort will encounter difficulty breathing, and frequent respiratory tract infections (PubMed Health c2012). The latter will be discussed in more detail as we move forward in the analysis. The study performed by Fudge et al. (2010) involved 4350 Down Syndrome patients with a median age of 5 months. Regarding the Down Syndrome patients who underwent either, or both atrial/ventricular septal defect closure, it was discovered that they were more likely to have preoperative risk factors contributing to the surgical experience than patients without Down Syndrome (Fudge et al. 2010). These risk factors included pulmonary hypertension rates, neurologic deficit, or seizure (Fudge et al. 2010). These risks outline the dangers faced by Down Syndrome children before they even undergo their heart surgery. Fudge et al. (2010) and his co-researchers also found from their study that patients with Down Syndrome experienced more postoperative complications than patients without Down Syndrome if they underwent atrial/ventricular septal defect closure. These complications included respiratory complications, infections, and pulmonary hypertension (Fudge et al. 2010). In fact, of the Down Syndrome patients whom underwent ventricular septal defect closure, a greater percentage (2.9% vs 0.8%) than patients without Down Syndrome experienced an atrioventricular block and required the placement of a permanent pacemaker (Fudge et al. 2010). Despite the complications that have arisen from the congenital heart disease-related surgeries performed on young Down Syndrome, there is good news. Between the patients in the study by Fudge et al. (2010) there was no significant mortality risk for any of the five outlined operations. As well, in the last 3o years, the outcomes for Down Syndrome patients who receive heart surgeries have improved with:
- refinements in surgical techniques AND
- improvements in the operative care given pre, intra, and post operative
(Fudge et al. 2010) Pulmonary Disease (PubMed Health c2012) Aside from the prominent heart complications experienced by young Down Syndrome patients, other major complications involve pulmonary diseases, in other words, lung diseases. In a review article written by McDowell and Craven (2011) the onset of this category of diseases is reported to be influenced by:

- hypotonia

- developmental delay AND

- cardiac abnormalities This is something that is very crucial to examine for this case because pulmonary complications experienced by these patients accounts for 42% of admissions to hospitals by Down Syndrome infants up to two years of age (McDowell and Craven 2011). What is Hypotonia? (PubMed Health c2011) Hypotonia is defined as decreased muscle tone, as depicted in the image to the right (PubMed Health c2011). During infancy the head is unable to withstand its weight and limbs appear floppy and rag doll-like (PubMed Health c2011). Being an infant with Down Syndrome is considered a risk factor for having Hypotonia because of the brain and nerve damage that occurs with the syndrome (PubMed Health c2011) Therefore, this damage to the nervous system influences the ability of the nerves to transmit signals to the muscle cells (PubMed Health c2011). Early Medical Interventions of Pulmonary Disease A crucial piece of data, the review compiled by McDowell and Craven (2011) reveals that Down Syndrome children are at an elevated risk of death from respiratory infections. Medical intervention and assessment immediately after birth are crucial for the Down Syndrome infant. There are many risk factors that play a role in how the child may become affected with a respiratory infection. Let's take a look at a few: Immune System Down Syndrome children suffer from immune deficits such as:
- T cell abnormality
- immunoglobulin level abnormality
- early apoptosis of lymphocytes
- decreased adhesion of neutrophils These factors each play a role in the immune response. When these cells and molecules are abnormal, the body loses its strength in terms of the immune response it can use to fight off even minor infections (Biological Concepts of Health 2010). T Cells are white blood cells that mature in the thymus gland (Biological Concepts of Health 2010). They recognize foreign substances in the body and even have the ability to remember foreign substances therefore they act as surveillance cameras (Biological Concepts of Health 2010). Immunoglobulins, also known as antibodies, are Y shaped molecules that bind like a lock and key mechanism to antigens that become present in the body (Biological Concepts of Health 2010). After they bind, antibodies precipitate the antigen allowing other immune cells to find it and engulf or cause it to leak and essentially "explode" (Biological Concepts of Health 2010). Lymphocytes are white blood cells and apoptosis refers to a cell committing suicide, or a programmed cell death (Biological Concepts of Health 2010). Neutrophils are a type of phagocyte that arrive immediately at the scene of the immune response and begin to engulf or 'consume' the foreign pathogen (Biological Concepts of Health 2010). Surgery When a young Down Syndrome patient receives surgery, for example the heart surgeries that were examined previously, this elevates the child's risk of respiratory infection by threefold (McDowell and Craven 2011). And remember... Obstructive Sleep Apnea (PubMed Health 2011) Obstructive sleep apnea is a condition caused by:

- an enlarged tongue
- Hypotonia of the mouth and upper airway
- Hypertrophy (enlargement) of tonsil and adenoid tissue

Which all result in difficulty breathing (National Down Syndrome Society 2012). Approximately 60% of Down Syndrome children experience difficulty sleeping from 3-4 years of age (National Down Syndrome Society 2012). Treatments and Interventions Surgical procedures that may be recommended by an otolaryngologist (ear, nose, throat specialist) include both tonsillectomies and adenoidectomies, as well as oxygen provided to the child during the nighttime (National Down Syndrome Society 2012).

Unfortunately, both the tonsillectomy and adenoidectomy procedures lead to an increased chance of the child getting a respiratory infection (National Down Syndrome Society 2012). This particular situation highlights the complexity of intervening or medically treating the health complications faced by Down Syndrome patients. To wrap up this question... As mentioned in the health concerns box for the first science question, management of problems associated with hearing include the medical treatment of otitis media (reminder: a middle-ear inflammation that causes limited mobility of ear membranes), tonsillectomy or adenoidectomy (*reminder: these procedures increase the risk of respiratory infection), speech therapy, hearing aids, or a cochlear implant. Hearing Problems (PubMed Health c2012) Ophthalmological Problems (problems with vision) This topic of interest was also touched on in the health concerns box for the first science-related question without mention of interventions or treatments/managements. Two problems Down Syndrome patients are faced with at a young age include congenital cataracts and glaucoma. Those were mentioned previously, so now, two more problems with be introduced along with their interventions and treatments/managements:

Tear Duct Abnormalities:
When faced with tear duct abnormalities, Down Syndrome children experiences a discharge falling or 'tearing' from the eye (National Down Syndrome Society 2012). Intervention of this problem involves massaging the tear duct region between the eyes and nose 2-3 times each day until discharge discontinues (National Down Syndrome Society 2012). If discharge continues, the Down Syndrome patient may require surgery to open the tear ducts and manage the problem medically (National Down Syndrome Society 2012). Strabismus (also known as eye misalignment):
With this complication, the problem may be corrected with eye glasses or eye muscle (strabismus) surgery, depending on the severity (National Down Syndrome Society 2012). Also, depending on the patient, they may require the eye muscle surgery more than once in order for their complications to be corrected (National Down Syndrome Society 2012). As has been mentioned previously about ophthalmological problems, they must be diagnosed early in the child's development because severity worsens with age. The complete and detailed answers to the second question bring us to the third question asked from a scientific perspective for this case. What is the reconstructive surgery, what does it involve, and how does it change the child's appearance? What is the reconstructive surgery? The surgery is a plastic and anesthetic surgical correction performed on the face and chin (Olbrisch 1985). The types of surgeries that can be done include:
- partial resection of an enlarged tongue
- correction of a drooping lower lip
- lifting of a flat nasal bridge
- correction of a thick neck
- correction of dysplastic (small) ears
- correction of the eyelid
- changing the profile by inserting silicone implants in the bones of the cheek and chin
(Olbrisch 1985) What do these surgeries involve and how does the child's appearance change? Of the seven types of surgeries that can be performed on a young Down Syndrome child, Olbrisch (1985) has performed the first four that were just listed. Those will be the surgeries discussed in greater detail for this question. Partial resection of an enlarged tongue Reason for surgery: The tongue is enlarged due to hypotonia, something we have mentioned previously, which causes a flabby protrusion of the tongue (Olbrisch 1985). The enlarged tongue interferes with eating, drinking, speaking, and breathing (Olbrisch 1985).

Details of the surgery itself: First, a wedge is cut out of the tip of the tongue and the bleeding is stopped using electrocoagulation (Olbrisch 1985). Next, the wedge is stitched back together (Olbrisch 1985). The children were kept in the hospital for five days after the operation however, in 6% of Olbrisch's (1985) operations, the stitching came undone and the child had to receive a second operation. Correction of a drooping upper lip The enlarged tongue in some Down Syndrome children causes the lower jawbone to change alignment (Olbrisch 1985). This causes the lower teeth to be pushed forward (Olbrisch 1985). The misaligned teeth are fixed by an orthopedic dentist, while the lower lip was narrowed by Olbrisch (1985) in his operations. Lifting of a flat nasal bridge Reason for surgery: The soft skin on the bridge of the nose moves toward the inner corner of the eye causing epicanthal folds as shown in the bottom image (Olbrisch 1985).

Details of the surgery: Using a cartilage tissue transplant rather than silicone, Olbrisch (1985) makes an incision and implants the cartilage so to lift the skin above the bridge of the nose so that the epicanthal folds are no longer there (Olbrisch 1985). (PubMed Health c2012) (PubMed Health c2011) Correction of a thick neck Reason for the surgery: To improve the profile of an otherwise "flat, receding chin filled with fat" (Olbrisch 1985).

Details of the surgery: A cut is made toward the larynx and a tongue-shaped flap is removed from the fat tissue (Olbrisch 1985). Findings from the third science question have provided this analysis with enough information about the reconstructive surgeries that are performed on Down Syndrome children. Now the fourth and final science question will be answered. What complementary/alternative interventions or managements are used for Down Syndrome children? Description of the primary study and preliminary/relevant findings The primary study done by Prussing et al. 2005 and their research team involved 30 families who were interviewed for an average of 90 minutes about the use of complementary/alternative medicine (CAM) in pediatrics, and for their Down Syndrome child. Of the 30 families:
- 21 reported, in the present, using at least one CAM therapy
- 4 had reported having used CAM in the past
- 5 had never used it but expressed an interest in doing so
(Prussing et al. 2005)
Of the parents who were using CAM, they expressed goals of accepting their Down Syndrome child by helping them reach maximal health and developmental potential (Prussing et al. 2005).

Why have these parents used CAM?
Among many reasons, they have used CAM to resolve physical illness (ear infections), prevent secondary health complications (pneumonia), correct metabolic imbalances which are characteristic of Down Syndrome (using nutrient supplements), and to promote a general well being for their Down Syndrome child (Prussing et al. 2005). What CAM therapies are actually used by these families? From the family interviews, the researchers were able to compile a list of CAM therapies used in order from most to least common: nutritional supplements*
massage therapies
herbal therapies
dietary modifications
animal therapy
faith/prayer healing
chiropractic care
neurological based movement programs*
cell therapy*
yoga (Prussing et al. 2005) The dietary modifications listed as a CAM includes limiting dairy, wheat, fatty, processed, and high sugar content foods (Prussing et al. 2005). The animal therapy that was listed as a CAM was defined by Prussing et al. (2005) as therapeutic horseback riding! * The four starred CAM therapies (nutritional supplements, piracetam, neurological-based movement programs, cell therapy) are especially important to analyze for this case. In the primary study by Prussing et al. (2005), these four CAM therapies were used specifically for Down Syndrome children with the exception of the drug piracetam. The U.S Food and Drug Administration approved the use of piracetam as a cognitive enhancer in Alzheimers patients however its use on Down Syndrome patients is controversial, and an important topic to further examine in this case. Moving back to the other Down Syndrome specific CAM therapies, the primary study noted that the nutritional supplements are more specifically vitamins in high doses (Prussing et al. 2005). Lastly, the cell therapy (a CAM that is illegal in the U.S) involves the preparation of a mixture of fetal rabbit and sheep cells to be injected into the Down Syndrome patient (Prussing et al. 2005). Further research about these therapies will benefit this case analysis. CAM= Cell Therapy: Does it work? The study:
190 Down Syndrome subjects aged 2 months to 19 years of age were involved in the study by Don et al. (1990), 21 having received cell therapy. Because the cell therapy is illegal in the United States, these patients received the therapy in Europe or Canada (Don et al. 1990).

What is the cell therapy all about?
The cell therapy discussed in this study is called Sicca cell therapy (Don et al. 1990). This therapy involves the administration of freeze-dried cells from the fetal tissue of a cow, sheep, or rabbit, and preparing the cells into a mixture that will be injected into a subcutaneous layer (Don et al. 1990).

To find out if the Sicca cell therapy works, or shows evidence of altering the features of a Down Syndrome patient it claims to alter. What were the original claims for the Sicca cell therapy?
The therapy was supposed to improve the physical features of Down Syndrome such as the flat nose and enlarged tongue; features that were altered during reconstructive surgical procedures mentioned in the last question (Don et al. 1990). As well, it was claimed to improve IQ, motor skills, social behaviour, growth, language, and memory (Don et al. 1990).

How was the method designed by Don et al. (1990) and their team to measure if these claims were true?
The study was designed to measure 18 variables related to growth, motor development, cognitive development, and social status (Don et al. 1990). Since the cell therapy is illegal in the U.S, the patients whom had previously received the therapy received it elsewhere (Don et al. 1990)

Measurements of growth and the other variables for Down Syndrome patients who had received cell therapy and those who did not were not significant (Don et al. 1990). In other words, the Sicca cell therapy showed no signs of meeting its claims and no other studies were found to have empirical evidence showing otherwise. Interesting Data: The Sicca cell therapy (as mentioned moments ago) is illegal in the United States (Prussing et al. 2005; Don et al. 1990). This is because the cell preparation is not a consistent or defined preparation therefore the U.S Food and Drug Administration would not approve it (Don et al. 1990). Since it is not available for purchase in the United States, families of Down Syndrome patients who wished for their child to obtain this therapy had to travel to England, Germany, or Canada to receive it OR they could receive the materials via postal services (Don et al. 1990)! CAM= Nutritional Supplementation: Does it work? The study:
The study titled "Nutritional Supplementation in Down Syndrome: Theoretical Considerations and Current Status" by Ani et al. (2000) provides an approach from which to review data and results from a theoretical and empirical standpoint.

Purpose of the study:
Theoretical --> To find out whether or not the theory of these nutritional supplements makes sense and should therefore improve the pathology of Down Syndrome (Ani et al. 2000).
Empirical --> To look at experimental evidence from other studies to see if it supports a positive outcome of the nutritional supplements (Ani et al. 2000). The theoretical reasoning behind nutritional supplements In patients with Down Syndrome there is an oxidative stress present in their system caused by an increased quantity of the enzyme superoxide dismutase (Ani et al. 2000). What's interesting is that this increase in the enzyme is due to the fact that the superoxide dismutase gene is on chromosome 21 and since Down Syndrome is defined as trisomy 21, there an overexposure of this particular gene by 50% (Ani et al. 2000)!
So what this means is that the molecule superoxide is catalysed into hydrogen peroxide which further leads to enhanced apoptosis in neurons (programmed cell death), damage to cell membranes, and cell DNA (Ani et al. 2000). Normally this does not negatively impact the physiology however the increased quantity of the enzyme causes an imbalance in the equilibrium of the body's antioxidant system (Ani et al. 2000).

The significance of this damage is widely hypothesized to be the reason Down Syndrome patients have a learning disability, an early onset of Alzheimer's disease, defective immunity, and an increased susceptibility to infections such as respiratory infections which we have mentioned in past slides (Ani et al. 2000). What happened to the theoretical significance of nutritional supplements? Good question. A challenge brought up by this assignment is that in order to properly answer an over-arching question it is important to understand the concept before it is discussed in further detail.

So, what was found from the study was that oxidative damage and stress to cell membranes, DNA, and neurons can be PREVENTED with supplements of vitamin E, vitamin C, Beta Carotene, and selenium (Ani et al. 2000).

In order to find out the answer it is time to take a look at the empirical evidence. The empirical data behind nutritional supplements Although the results were insignificant for the vitamins and minerals that were tested, there were results present in two of the minerals that were tested.

Zinc Supplements:
Before discussing the results of the reviewed studies it is important to know that zinc is usually present in lower than average levels in the blood serum of Down Syndrome patients (Ani et al. 2000). When tested on Down Syndrome children whom were showing signs of respiratory infection (coughing), the group given the zinc supplement coughed notably less than the placebo group (Ani et al. 2000). There was also an increase in their serum thymic factor which is involved in the differentiation of T-cells from the thymus, suggesting a theoretical reason for possible enhanced immunity associated with less frequent coughing (Ani et al. 2000).

Selenium Supplements:
Selenium is a cofactor within our body's antioxidant system of enzymes (Thompson et al. 2010). When given to Down Syndrome patients in a study, two types of immunoglobulin (antibodies) increased in number (Ani et al. 2000). These results would theoretically suggest an enhanced immunity.

However, the problem with the studies that were reviewed by Ani et al. (2000) and their research team is that they were poorly controlled and the results were not statistically significant enough. The theoretical assumptions and hopes that nutritional supplementation would assist in cognitive functioning and other factors were not met. CAM= Piracetam: Does it work? To start, what is piracetam and how does it work? Piracetam is a nootropic drug, a compound that exhibits cognitive enhancing properties (Moran et al. 2002).

The three proposed mechanisms piracetam uses in the body are as follows:
1. Enhancing membrane fluidity
2. Regulating glutamate receptors
3. Increasing acetylcholine neurotransmission
(Moran et al. 2002)

Previous Applications:
When piracetam was tested on Alzheimer's patients over the course of a year-long clinical trial, the process of cognitive decline was slowed, but cognitive function was not improved (Moran et al. 2002).

Let's take a closer look at how mice reacted to piracetam doses and the results of a clinical trial measuring cognition and behavioural changes of Down Syndrome children when administered piracetam. What happened in the primary study done by Moran et al. (2002)? How were mice used to test this drug?
The mice that were used to represent the Down Syndrome patients were developed to be trisomic for the segment of 'mouse' chromosome 16, and were used as models for this experiment (Moran et al. 2002).

The test that was used to examine the spatial learning and memory of the mice is called the Morris water navigation test (Moran et al. 2002).

The piracetam affected both the control group and the trisomic group of mice (Moran et al. 2002). The drug appeared to have a positive effect on the control group of mice; improving their navigation in the water test, while hindering the navigation ability of the trisomic mice (Moran et al. 2002). Moran and his team of researchers were unsure as to why these results occurred. What about in the clinical trial, were there similarities in the results? The results in the clinical trial were parallel to the results in the study we just examined. In 18 children with Down Syndrome, cognition and behaviour were monitored and measured after administrating the piracetam drug to 7 of the 18 children in the study (Moran et al. 2002). Similar to the study with the mice, there was no significant improvement in cognitive performance, in fact the drugs had a adverse behavioural effects on the 7 children (Moran et al. 2002). The adverse effects were irritability and aggressiveness (Moran et al. 2002).
These findings show no significant rationale that piracetam improves cognitive function in Down Syndrome children. Now that we have answered the science-related questions of this case is it time to change direction and answer questions about the psychological and social aspects. What are the psychosocial effects of the reconstructive surgery on the Down Syndrome child and their family? What is the significance of a study explaining the psychosocial effects of the reconstructive surgery? The study that has been found provides this analysis with an important background as to why parents would consider the surgery for their child as well as a lead into the stigmas that have influenced their decision. During the study parents were asked why they wanted their child to undergo reconstructive surgery. The majority answered that they believed the surgery would facilitate their children's integration into the 'normal world' (Arndt et al. 1986). Where would the parents get this idea? In fact, there is evidence regarding the child's levels of psychosocial stimulation and interaction with their family and society. It has been found that the facial features attributed to Down Syndrome interfere with the child's interaction with their mother and father, a very crucial interaction for their growth and performance (Arndt et al. 1986). Their facial features also impact their social integration in the community as neighbourhood children may look upon the child with fear and mistrust, while the parents receive comments and stares of disapproval (Arndt et al. 1986). Let's take a look at the study itself Study:
The study done by Arndt et al. (1986) involved 24 Down Syndrome children, mean age of eight years, living in the Greater Toronto Area. These children were all to receive a reconstructive surgery, the majority receiving partial resection of an enlarged tongue and lifting of their flat nasal bridge; two important surgeries that were discussed in detail previously (Arndt et al. 1986).

For their primary research Arndt et al. (1986) took the intelligence quotient (IQ) of the children pre and postoperatively to measure the impact of the surgery on the child's intellectual functioning. The research team also measured the pre and post operative family function using the Family Adaptability Cohesiveness Evaluation Scale (FACES) which is a test composed of 30 questions, answered by the parents (Arndt et al. 1986). The last dependent variable was the child's appearance, where parents rated their children's present preoperative, anticipated and actual postoperative appearance using a test that rated their appearance from perfect feature to marked imperfection (Arndt et al. 1986). An intriguing part of the study for fairly objective results involved 20 adult volunteers who were shown jumbled pre and postoperative photos of the children (Arndt et al. 1986). Their scores were taken and compared to those of the parents of the Down Syndrome children (Arndt et al. 1986). Let's now take a look at the results of this study. Results The results from the comparison between the pre and postoperative IQ test revealed no difference (Arndt et al. 1986).

Should we be surprised by this? In terms of the appearance scores, the parents' anticipated and actual postoperative scores were very similar (Arndt et al. 1986). The difference was between both postoperative scores and the preoperative score, where there was a two point difference; a very significant finding (Arndt et al. 1986).

As for the interesting results found from the 20 volunteer adults, they scored the appearances (altogether- jumbled) an overall average of two and a half points less than the parents which rendered this study of great significance to understanding where the psychosocial impacts of the surgery may stand (Arndt et al. 1986). The results on the test for family function (FACES) were very similar pre and postoperatively (Arndt et al. 1986). The results were slightly higher for the postoperative test taken by the parents (Arndt et al. 1986). Although the scores suggested a slightly more cohesive family structure after the surgery, careful analysis of the work done by Arndt et al. (1986) reveals an interesting connection that can be drawn between two different reports. Studies in Germany have shown that after the reconstructive surgery, 20% of parents admitted that their attitude toward their child had changed (Arndt et al. 1986). Might this attitude be connected to the results of this study? Let's wrap up the final result of this report and take a new approach. Overall result: The parents were pleased with the appearance of their child after the surgery (Arndt et al. 1986). There was also a slight increase in the cohesive scores for the family functioning test taken postoperatively (Arndt et al. 1986). Might this outcome have a connection between the study that was discovered about the surgery changing the parents' attitude in 20% of the procedures? This is a very interesting question but before any interpretations can be drawn from this intriguing data we must further explore the social science side of this case. How is the family impacted by the birth of a Down Syndrome child and how does the role of the family change? With appropriate research, very intricate answers to this question have been found with the assistance of a study performed by Povee et al. (2012). To start off: The families involved in the study faced challenging and rewarding experiences with their children. These experiences mold the answer to: How is the family impacted by the birth of a Down Syndrome child? With the birth of a Down Syndrome child, families: - Reported being less involved in activities
- Experienced a greater financial and care taking strain
- Experienced strain on their marriage from factors such as finding appropriate education, medical, therapy, childcare, and entertainment for their child
(Povee et al. 2012) On the other hand these families: - Experienced the "Down Syndrome Advantage"

In comparison to families with children who were affected by a different intellectual disability such as autism, Down Syndrome children were capable of greater social competence and fewer behavioural problems (Povee et al. 2012). In terms of Down Syndrome families as a unit,
they experienced smaller divorce rates, greater family
coping (less stress), and functioning than families with other
intellectual disabilities (Povee et al. 2012). The rest of the study done by Povee et al. (2012) molds the answer to the question: How does the role of the family change? So how does the role of the family change? In the primary data gathered by Povee et al. (2012), the team of researchers measured:

- Family functioning of families with Down Syndrome children

Family functioning was defined as healthy relationships and daily living (Povee et al. 2012). The team found that the mean score of the families indicated healthy family functioning, particularly in middle-higher income families (Povee et al. 2012). Quantitative Data Qualitative Data Povee et al. (2012) and their team included a very intriguing component in their study where they encouraged the families to provide answers to the following statements:
"Describe the impact (if any) of having a child with Down Syndrome on family activities."
"Describe the impact (if any) of having a child with Down Syndrome on family holidays."
"Write any comments about other ways in which having a child with Down Syndrome has affected your family."

The authors of the study then analyzed these answers and categorized the answers in terms of their over-arching themes. Their answers provide a very interesting and important insight into the depths of this case. Answers to the Qualitative Research Questions Theme One: Normality of a Family with a Down Syndrome Child The comments written by the familial participants were:
"No impact on family life. He's not hard to get along with. He walks and talks and can do anything we do. He's just one of us."
"[Ellie] has always been treated exactly the same as our other children, she has always been included in anything that we do."
(Povee et al. 2012)
Along with these answers and other written answers given by the participants, it was discovered that the Down Syndrome children were always included in family activities and holidays, and enjoyed taking part in them (Povee et al. 2012). It was also found that during these activities, the family treated and included the children just as they did any other child or family member (Povee et al. 2012). *Before reading it is important to note that the children ranged from ages 4-25 years with a mean age of 13.68 years (Povee et al. 2012). Theme Two: Methods of Coping in a Family with a Down Syndrome Child One of the comments written by the families was:
"Yes our son needs more care and supervision, however his sisters have their own personalities and issues that we have to address as well. This is what families do."
(Povee et al. 2012) Apart from this comment other results under this over-arching theme revealed that these families have accepted the challenge of having a child with Down Syndrome (Povee et al. 2012). It was also revealed by the families that extended family and friends provided as support networks which served as a coping mechanism for them (Povee et al. 2012). Theme Three: Positive Impacts of the Child on the Family One of the comments written by the family was:
"Overall she has enriched and added immensely to our family and we couldn't do without her."
(Povee et al. 2012)
These families also revealed that their child has shaped their philosophies on life; their appreciation for life, re-evaluation of what is truly important, and taught them the value of selflessness and patience (Povee et al. 2012). The families also reported becoming more caring, empathetic, and compassionate as a result of raising a Down Syndrome child (Povee et al. 2012). Theme Four: Negative Impacts of the Child on the Family From the answers that were written in response to the statements, some of the families revealed the stresses and the impacts of having a Down Syndrome child, on their other children (Povee et al. 2012).
They admitted that their other children received less attention from them, and that they had restricted social lives because they were caring for their sibling (Povee et al. 2012).
The stresses felt by the families were a result of lack of appropriate childcare services for their Down Syndrome child (Povee et al. 2012). Since many of these families had to tend to their child without the service of a caregiver they expressed feelings of social isolation (Povee et al. 2012). Lastly, they revealed that thinking about the future care of the child and financial obstacles was another root of their stress (Povee et al. 2012). Along with the valuable results from the study done by Povee et al. (2012) another insight into how a Down Syndrome child impacts the family is found in a touching, local article found in the Hamilton Spectator on March 21, 2013. This is an important piece of media for this analysis and I truly enjoyed reading it. Hopefully you will too. Down Syndrome Day: Celebrate Being A mom's story about a daughter whose difference she honours As a healthy 28-year-old woman, with one child already, I never imagined my husband and I would conceive a baby with Down Syndrome. I erroneously believed children with Down Syndrome were only born to women over 40, or to women who share a history of Down Syndrome in their family.
I soon discovered that the majority of children born with Down Syndrome are born to women such as myself: those of an average child-bearing age with no family history. I was five months pregnant when we found out our baby had Down Syndrome- shockingly, not too late to abort in Canada.

The following 11 paragraphs of this article can be found in the Hamilton Spectator, dated March 21st 2013, also known as World Down Syndrome Day. The final statements made regarding abortions in Canada lead us to our second to last question to be answered for the analysis of this case. How are Down Syndrome children stigmatized by society? An important place to start answering this question is during the stages of pregnancy, particularly during the diagnostic stage, at the doctor's office. As Prussing et al. (2005) mentioned in their research, "the biomedical presentation of their [infant's] diagnosis either neglected or undermined their emotional adjustment" to being told their child has Down Syndrome. This type of stigmatization plays a crucial role in whether or not the parents will decide to abort their pregnancy. Let's take a look at another media example to understand how this type of situation unfolds.

The media example is a news report from CBS Television. The part of this video that is most important for the answer of the question is from 0:39-2:12. What was learned from watching this media clip: At the beginning of the clip, Dr. Robert Marion from the Albert Einstein College of Medicine shared that the vast majority of women who are told they are going to have a child with Down Syndrome, terminate their pregnancy (CBS 2008). He expressed the importance of it being a personal decision and that it should not be coloured by anything the doctor chooses to tell them (CBS 2008). In fact, near the end of the news report Amy Allison, Executive Director of the Down Syndrome Guild of Greater Kansis City stated that physicians are giving bias information when they are presenting a prenatal, Down Syndrome diagnosis (CBS 2008). She then presented information from a study of 1300 parents of Down Syndrome children that was published in the American Journal of Obstetrics and Gynecology in 2005 (CBS 2008). She revealed that the majority of parents reported that the physician "did not tell them about the positive potential of people with Down Syndrome" (CBS 2008).
This is clearly depicted by the couple pregnant with twins in the video. They were told by their doctor that the wife was "early enough along in [her] pregnancy that [she could] terminate" and that was all that was said about their options (CBS 2008).

It will be important to keep these influences in mind as final conclusions are drawn. In the primary article written by Kravetz et al. (1992), lots of manners in which Down Syndrome children become stigmatized are discussed. Right from birth, they are stigmatized for their physical appearance. Therefore, the children are stigmatized for their phenotype, as well as by the physician, in relation to their genotype that was detected via prenatal chromosome analysis. Kravetz et al. (1992) and their research team described how this perception from birth usually leads to negative expectations by parents and society in future stages of life. The parents who were investigated in this study believed that these negative expectations caused by the stigma could be eradicated by enrolling their Down Syndrome child in reconstructive surgery (Kravetz et al. 1992).

On a smaller scale, the research indicated that young children expect Down Syndrome children to behave in a less desirable manner because of their physical appearance (Kravetz et al. 1992). These findings bring us to the end of this question. The same primary study done by Kravetz and his team will be used to discuss the final question in this analysis How does the environment differ between the children who have undergone the reconstructive surgery and the children who have not? The study: Kravetz et al. (1992) and his colleagues performed a follow up study on 39 Down Syndrome individuals: 19 who had the reconstructive surgery and 20 who did not have the surgery (Kravetz et al. 1992). The mean age for both groups was between 8 and 10 years old (Kravetz et al. 1992).
The study was carried out just less than a year after the surgery was performed on the 19 children (Kravetz et al. 1992). The study required the parents to take part in the questionnaires assigned to them in order to understand the changes produced by the operations and the changes in the children who were not operated on, in the past year (Kravetz et al. 1992).

These changes represent the difference in the environment between a pre and postoperative Down Syndrome individual because the parents express how their perceptions have changed as well as how they perceived others to react to their child (Kravetz et al. 1992). Let's take a look at the instruments used in the experimental method. Instrument #1: The Perceived Change Questionnaire was one of the instruments used in the method of this study (Kravetz et al. 1992).

Both groups of parents were to report any changes to do with their child's functioning in the previous year (Kravetz et al. 1992). The questions involved:
- the parents' perception of their child's appearance AND
- the parents' perception of how others reacted and perceived their child

The scale reflected how the parents of the children who had the operation perceived these things and how the parents of the children who did not have the operation perceived these things over the course of an average year.
Scale: Large Improvement -->Large Deterioration (Kravetz et al. 1992) Results Instrument #2: Another important instrument that was used in the method was the Attitude Toward Retarded Performance Questionnaire (Kravetz et al. 1992).

Both groups of parents were to complete the questionnaire in order for the research team to find out whether "differences in the parents' attitude toward affirmative action for children who are mentally retarded might confound other differences" between the two groups (Kravetz et al. 1992). In other words, whether the group of parents whose children underwent the surgery were more likely to respond affirmatively to medical interventions for their Down Syndrome child than the parents of the children who did not receive the surgery.

This instrument involved 11 dilemmas that could occur at home, school, and recreation and required the parents to select how they would respond in terms of the scale: Active Modifying --> Passive Accepting (Kravetz et al. 1992) For Instrument #1:
From the scores on this questionnaire, it was apparent that the perception of the parents whose children underwent the surgery improved and they believed that the way others perceived their child also improved (Kravetz et al. 1992).
Reminder: By 'improved' this is referring to over the past year, since the operation was done.

For Instrument #2:
From the scores on the second instrument used in the methods, it was interpreted by the team of researchers that the Down Syndrome children who had the surgery were more encouraged by their parents to get involved at home, work, and during recreational activities than the children who did not have the surgery (Kravetz et al. 1992). Despite the interesting results of this study, Kravetz et al. (1992) and their team admit that the differences in the data between both parental groups were in the areas that were directly associated with the intended results of the surgery. That was their conclusion to the study. So what does all this mean?

Does this mean that such a study may be too sensitive and 'uncontrolled' in terms of the influence of the parents' self-fulfilling prophecies?

Now it's time to move on to the final stages of the analysis. Where does the analysis of the case go from here?
The answers to the questions bring us to the final stages of the analysis: issues and challenges that were faced, the conclusion, and implications of the research. As an important aside to this research: Another study done by Most et al. (2006) and their incredible team of researchers found that the stress levels of mothers with Down Syndrome children increased as the child grew from an infant to a pre-school child (Most et al. 2006). The levels of maternal stress were measured at 12-15, 30, and 45 month set points where the lowest levels of stress occurred at the youngest set point (Most et al. 2006). A crucial observation was that as the child became closer to a pre-school aged child, there was an emergence of the Down Syndrome phenotype (Most et al. 2006). This phenotype and other behavioural differences played a role in the elevation of maternal stress as the child grew (Most et al. 2006).

The researchers from this study have acknowledged the "Down Syndrome Advantage", however since the comparison children did not have autism but had a less severe intellectual disability, the maternal stress by the 45th month had increased to be equal to the maternal stress of the comparison group (Most et al. 2006). Issues and challenges faced during the research There were both issues and challenges faced during the research. One of the challenges was being able to evaluate how far to research into each question. For example, with the question: What is Down Syndrome? To simply state the phenotypic and genotypic characteristics of Down Syndrome would not be providing enough body for the conclusion. Furthermore, research had to be done on the health complications and diagnosis of the syndrome, especially since these topics were covered in the other questions. Building a basis of the health complications encountered by Down Syndrome patients was helpful when answering the second science question: What surgeries or early medical interventions might a Down Syndrome child require? A particular issue that stood out from the research was the answers to the question: What complementary/alternative interventions or managements are used for Down Syndrome children? The three main CAM managements that were discussed - cell therapy, the piracetam drug, and nutritional supplements - provided a weak backbone for the conclusion. The lack of studies that had been performed on the effects of piracetam on Down Syndrome patients was an issue. Issues that have arisen from the case topic itself An interesting issue that reappeared with the research is the diagnostic situation that was discussed for the question: How are Down Syndrome children stigmatized by society?
One of the reasons this question was selected was to examine whether there was a relationship between how the children are stigmatized at birth and how the parents react to this stigmatization. One of the greatest supporting points for this connection was made in the PBS news report by Dr. Robert Marion, a geneticist. He claimed "the vast majority of women who receive a prenatal diagnosis terminate their pregnancies". The doctors are providing inadequate and biased information to their clients regarding their child's prenatal diagnosis of Down Syndrome, which causes parents to react by aborting the pregnancy in a vast majority of cases. Issues that have arisen from this topic are:
- Is it the doctor's responsibility to set up the family with other health care professionals who can assist them in developing an appropriate environment for their disabled child?
- Is it appropriate for the doctor to give their clients the option of abortion once Down Syndrome prenatally diagnosed?

These questions provide further complexity to this case. The lack of availability of a study that tested the interaction between the health complications faced by Down Syndrome children and the reconstructive surgery provided another issue for this case. It would have provided strong evidence for the conclusion to have found a study testing the effects of the 'correction of a thick neck' surgery on the rate of respiratory infection or interference level with the cardiovascular system by measuring hypertension rates.

Issues than have arisen from the research thus far have been related to the content of the research and the lack of availability of certain studies. Next, let's take a look at an issue that has arisen from the ideas that were discussed in one of the questions, and the implications it brings forth for future research on this topic. Conclusions to this case The research question pertaining to this case is: Is reconstructive surgery performed on Down Syndrome children a safe and just choice? Should children receive this surgery? Is reconstructive surgery performed on Down Syndrome children a safe and just choice? Should children receive this surgery? The reconstructive surgery is not a safe, or just choice made by parents of Down Syndrome children. Beginning in the doctor's office, a stigma is placed on the unborn child through the physician's approach to the options that are available to the family. Dr. Robert Marion was made this clear when he said the majority of women who receive this prenatal diagnosis terminate their pregnancy. The absence of 'good news' when parents are told their child is going to have Down Syndrome is the reason the stigma is present at this point. This lack of support follows the parents over the course of their child's development, during which 40-60% of children with Down Syndrome are faced with heart complications and many may undergo congenital heart surgery (Fudge et al. 2010). After this surgery, and other smaller surgical procedures such as tonsillectomies and adenoidectomies to alleviate sleep and hearing complications, the child's risk of respiratory complications increases which places the child at higher risk of fatality (Fudge et al. 2010; McDowell and Craven 2011; National Down Syndrome Association 2012; Roizen and Patterson 2003). During this time and until the child reaches preschool age, maternal stress increases (Most et al. 2006). The reasons for increased stress during this time is because the phenotypic characteristics of Down Syndrome begin to surface, especially as the parents are exposed to other children, around their child, without intellectual disabilities (Most et al. 2006). What is important is that the pre and post reconstructive surgery intelligence quotients (IQ) of a Down Syndrome child are identical (Arndt et al. 1986). Other reasons for increased stress levels as the Down Syndrome child develops include social isolation felt by the family, and lack of attention to their other children, each which are a result of lack of appropriate childcare support (Povee et al. 2012). Thus far, it can be interpreted from this research that the families who enroll their Down Syndrome children in reconstructive surgeries feel as though Down Syndrome is something to be cured, when really it is a syndrome that requires learning to cope with. Other evidence of this 'need' to cure Down Syndrome is with the use of complementary/alternative medicine such as the nutritional supplements, piracetam, and cell therapy, each which have proven to have no effect on the Down Syndrome child. An exception is the piracetam drug, which was proven to have adverse health effects: elevated irritability and aggressiveness (Moran et al. 2002). Down Syndrome children should not receive reconstructive surgery because the surgery does not improve their integration into society. This is interpreted from the data in the study by Arndt et al. (1986) where there was no significant change in the pre and postoperative family functioning. The volunteer adults in this study (representative of society) scored the children's pre and postoperative appearances as two and a half points less on average which supports the theory of Kravetz et al. (1992) that the surgery serves as a "self-fulfilling prophecy" for the parents. Furthermore, Down Syndrome children who undergo reconstructive surgery are being placed in an unsafe position in terms of their biological response to surgical procedures and in terms of the psychosocial impacts that are initiated by the surgery. This conclusion certainly has implications for further insight into issues involving familial coping strategies in order to reduce the strain caused by supporting an intellectually disabled child. What should happen next: Implications of the research and conclusions As a result of what has been interpreted from the results of this case, an area of interest is the trajectory taken by the parental stress levels. What separates the positive impacts of raising a Down Syndrome child from the negative impacts is the strain of finding appropriate childcare support which leads to social isolation and a lack of attention given to the other children in the family (Povee et al. 2012). Otherwise, in terms of the positive impacts, families are left feeling elevated by their child in terms of their outlooks on life, patience levels, and feelings of selflessness (Povee et al. 2012).

What would assist in improving the experience of raising a Down Syndrome child is receiving the prenatal diagnosis from the doctor, having them shed light on the positive impacts of raising a Down's child, and having them provide appropriate connections to early family intervention programs. These programs will assist the family in managing any increased stress throughout the child's development.

As we read in the excerpt from the Hamilton Spectator and the story of Hope from the National Down Syndrome Society (2012), having a child with Down Syndrome is certainly a different experience from having a child without a disability, but it is not something to be feared. As the mother of a Down Syndrome child from the Hamilton Spectator article expressed, "we are all much more alike than any one of us is different." (CBS 2008)
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