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Down Syndrome

Down Syndrome and Obesity

Obesity has been a rising trend in America (Rubin, Rimmer, Chicoine, Braddock, & McGuire, 1998).  The prevalence of obesity from 2015 to 2016 was 39.8% of the general population, affecting as many as 93.3 million American adults (Center for Disease Control and Prevention, 2018). People who are overweight or obese are at an increased risk for serious health conditions such as Type 2 diabetes, stroke, cardiovascular disease, and other detrimental health conditions (Esposito, MacDonald, Hornyak, & Ulrich, 2012).  It is also one of the leading causes of premature death that could be preventable (Center for Disease Control and Prevention, 2018).

People with Down Syndrome have a higher obesity prevalence than the general population (Rubin et al., 1998).  In the general population in the United State of America, the Centers for Disease Control and Prevention (1997) reported that 33% of males and 36% of females are overweight (Rubin et al., 1998).  Adults with Down Syndrome have a significantly higher prevalence with 45% of males and 56% of females being overweight (Rubin et al., 1998). However, this higher rate of being overweight was not only found in the United States.  More recently, a study conducted in 2009 found that Dutch children with Down Syndrome have “alarmingly high prevalence rates of overweight and obesity during childhood and adolescence” compared with the general Dutch population (Van Gameren-Oosterom, Van Dommelen, Schönbeck, Oudesluys-Murphy, Van Wouwe, & Buitendijk, 2012).  Compared with the general Dutch population, children with Down Syndrome were more often overweight: 25.5% of boys with Down Syndrome were overweight as compared to 13.3% within the general population, and 32.0% of girls with Down Syndrome were overweight as compared to 14.9% within the general population (Van Gameren-Oosterom et al., 2012).  In addition, children with Down Syndrome were also found to have a higher rate of obesity compared to the Dutch general population. 4.2% of boys with Down Syndrome was found to be obese compared to 1.8% of typically developing children and 5.1% of girls with Down Syndrome were found to be overweight compared to 2.2% of typically developing Dutch children (Van Gameren-Oosterom et al., 2012).

Furthermore, it is found that people with Down Syndrome have an increased risk of having diseases related to overweight conditions (Rubin et al., 1998) and this increased risk starts early.  Children with Down Syndrome have a tendency to become overweight and obese and the rates of obesity among this population are much higher than the general population (Murray & Ryan-Krause, 2010).  These individuals have a propensity for obesity and a large amount of abdominal fat storage,and are subsequently at a higher risk for developing Type 2 diabetes mellitus and may be at a higher risk of experience negative physical consequences associated with obesity (Murray & Ryan-Krause, 2010).  People with Down Syndrome have physiological mechanisms that relate to an increased risk for obesity such as hypothyroidism, decreased basal metabolic rate, increased leptin, poor mastication, and decreased resting energy expenditure (Marray & Ryan-Krause, 2010).

Many of these physiological mechanisms can be regulated to decrease an individual’s risk for obesity (Murray & Ryan-Krause, 2010).  Each child is unique, therefore in order to develop an appropriate prevention and management plan that is tailored to an individual child’s needs, a comprehensive assessment of their complete history must be taken (Murray & Ryan-Krause, 2010).  There are many ways to manage weight, such as encouraging increased physical activity, limiting sedentary lifestyles and eating a balanced diet with vitamin and mineral supplements (Murray & Ryan-Krause, 2010). It is important to remember that not all treatments are effective for all individuals and thus the interventions should be specifically tailored for each child with Down Syndrome (Murray & Ryan-Krause, 2010).  

Obesity, one of the leading causes of preventable death, has been increasing in prevalence throughout the years all around the world (Center for Disease Control and Prevention, 2018).  Unfortunately, there are even higher rates in individuals with Down Syndrome (Center for Disease Control and Prevention, 2018). It is important to continue to pursue research in preventing and educating the general population in regards to overweight and obesity by teaching people about proper nutrition and dietary intake as well as the importance of physical activity in daily life.

References

Center for Disease Control and Prevention. (2018). Adult Obesity Facts. Retrieved November 12, 2018, from https://www.cdc.gov/obesity/data/adult.html

Murray, J., Ryan-Krause, P. (2010). Obesity in children with down syndrome: background and recommendations for management. Pediatric Nursing, 36(6), 314-9.

Rubin, S.S., Rimmer, J. H., Chicoine, B., Braddock, D., & McGuire, D. E. (1998).  Overweight Prevalence in Persons with Down Syndrome. Mental Retard, 38, 175-181. doi:10.1352/0047-6765(1998)036<0175:OPIPWD>2.0.CO;2

Van Gameren-Oosterom, H. B., Van Dommelen, P., Schönbeck, Y., Oudesluys-Murphy, A. M., Van Wouwe, J. P., & Buitendijk, S. E. (2012). Prevalence of overweight in Dutch children with Down syndrome. American Academy of Pediatrics, 130(6). doi:10.1542/peds.2012-0886

 

Categories
Down Syndrome

Down Syndrome in Art Forms Throughout the Ages

Art is a very galvanizing force that is often used to represent and preserve a piece of society. It is often examined and analyzed by future historians in centuries to come. An art piece used to encompass the various beliefs and outlooks during the era in which it was created. Throughout the centuries, mental illness have been depicted in a various forms of art, whether in music, the media, or paintings. Down Syndrome is no exception. Even before the official coining of its current name in the early nineteenth century, Down Syndrome has been depicted in different pieces of arts for centuries (Starbuck, 2011 ).  

According to John. M. Starbuck, a Ph.D. candidate in the department of anthropology at Pennsylvania State University, there are many art forms in history that could possibly be depictions of individuals with Down Syndrome in historical cultures.  He believes there is strong evidence that two individuals in the painting The Adoration of the Christ Child (circa 1515 A.D.) were shown to have Down Syndrome.  One individual was drawn with angel wings and the other was an “earthly admirer” (Starbuck, 2011).  They were portrayed with similar facial compositions exhibited by people with Down Syndrome. They had  “flattened midface, epicanthic folds, upslanted palpebral fissures, small and upturned nasal tip, downward curving mouth corners, and short fingers with a widely spaced and curving small finger (Levitas and Reid, 2003)”.  These description are direct features scientists have identified as distinct to those with Down Syndrome. There are two versions of this painting, one in the nighttime and the other in the daytime. Each version had similar individual’s depicted, one with an angelic disposition and the other as a mortal bystander.    

Levitas and Reid, who studied the qualitative facial analysis of individuals in paintings to confirm or deny the possibility of those individual’s as being depicted with Down Syndrome. They concluded, after analyzing and examining the two individuals in the painting, that both individuals may have had Down Syndrome. They speculated that there were three possible reasons why one of the individuals in the painting who may have had Down Syndrome was drawn with such an angelic disposition. The reasons were: 1) the artists may have had warm feelings towards people with Down Syndrome, 2) the artists was depicting people with disabilities for a symbolic purpose such as depicting those with mental illnesses as signs of comedy or evil (Starbuck, 2011), and 3) physical signs of Down Syndrome were not recognized as a disorder at the time of the painting (Levitas and Reid, 2003).

The portrayals of those with disabilities or mental illnesses ranged from symbols of evil and fear to comedy and jest. Some people with disabilities were portrayed as a symbol of evil (Levitas and Reid, 2003). This could be perhaps be indicative of the intrinsic human tendency to fear the unknown. Others depicted those with disabilities as a symbol of comedy (Levitas and Reid, 2003), which could be evidence of a human propensity to judge and ridicule those who are different.

In today’s society, the knowledge of Down Syndrome has spread, with the advent of increased research and awareness. Media portrayals now depict those with Down Syndrome less as a symbol of evil or comedy but more as an exaggerated caricature of their syndrome.  For example, the television reality show, known as the A&E series “Born This Way” features everyday people with Down Syndrome and the lives they live. However, such shows, especially “Born This Way” is criticized for portraying the lives of people with Down Syndrome as  “an overly rosy look at life for adults with Down Syndrome” (Vila, 2016). Such representations of Down Syndrome is quite popular in the media nowadays (Vila, 2016) however it is a step forward in the right direction compared to portrayal of mental illnesses and disabilities as either a joke or a sin. Therefore, the depiction of Down Syndrome in art right now is not ideal, but it has improved over the centuries.   

In the future, with more advancement in science and research, the art representing those who differ from the typically developing person can finally morph into accurate depictions of those with any mental disorder or disability, not just Down Syndrome.  It is crucial to respect and understand people with mental illnesses as individuals and not as a product of their disorder.

References

Levitas, A. S., & Reid, C. S. (2003, February 01). An angel with Down Syndrome in a sixteenth

century Flemish Nativity painting. Retrieved October 19, 2018, from

https://www.ncbi.nlm.nih.gov/pubmed/12522800

Starbuck, J. M. (2011). On the Antiquity of Trisomy 21: Moving Towards a Quantitative

Diagnosis of Down Syndrome in Historic Material Culture. Journal of Contemporary

Anthropology,2(1). Retrieved October 19, 2018, from

https://docs.lib.purdue.edu/cgi/viewcontent.cgi?referer=http://www.downsyndromeprenat
altesting.com/down-syndrome-diagnosis-at-the-adoration-of-the-christ-child/&httpsredir=1&article=1019&context=jca

Vila, V. (2016, January 12). Down Syndrome on TV: Conversations About “Born This Way”.

Retrieved October 24, 2018, from

https://modernmessy.wordpress.com/category/portrayals-of-down-syndrome-in-media/

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Down Syndrome

What is Down Syndrome?

What exactly is Down Syndrome? What makes people with Down Syndrome different than those without Down Syndrome? What makes them the same? What causes Down Syndrome?  What do I do if someone close to me has Down Syndrome? These are often questions that people often ask when they first encounter Down Syndrome.

According to the National Down Syndrome Society, or NDSS, nearly one out of 600 babies born in the United States is born with Down Syndrome. This makes Down Syndrome the “most common chromosomal condition” (What is Down Syndrome, n.d.). If we go by the approximate numbers, each year around 6,000 babies are born with Down Syndrome (What is Down Syndrome, n.d.).  

Down Syndrome had been touched on in different works of art and literature for centuries but it wasn’t until 1866 when a physician, John Langdon Down, published a description of a person with Down Syndrome that the condition was given an official name.  Significantly later in 1959, Down Syndrome was found to be a chromosomal disorder by a physician named Jerome Lejeune. This led to a multitude of advances in Down Syndrome research.

In a normally developing cell nucleus, each parent contributes to half of the 23 chromosomes. Down Syndrome is a chromosomal condition where an individual has a “full or extra copy of chromosome 21” (What is Down Syndrome, n.d.).  

There are three types of Down Syndrome: trisomy 21, mosaicism, and translocation. 95% of those with Down Syndrome has Trisomy 21. Trisomy 21 happens before or during a gamete formation where the spermatocyte and oocyte fails to divide properly during meiosis causing there to be three copies of chromosome 21 instead of the usual two (What is Down Syndrome, n.d.).  The second type of Down Syndrome is relatively rare, making up only 1% of all people with Down Syndrome. It is called Mosaic Down Syndrome. Mosaic Down Syndrome is when a person only has some cells with an extra chromosome 21 and others developed without the extra chromosome (Mayo Clinic, 2018). Therefore in this kind of Down Syndrome, some of the cells have 46 chromosomes and others have 47(What is Down Syndrome, n.d.).  Last but not least, the third type of Down Syndrome is Translocation. Translocation is where some of the chromosome 21 attaches itself, either fully or partially, to another chromosome, usually chromosome 14 (Mayo Clinic, 2018).

Because of this genetic difference and changes in development, there are specific phenotypic characteristics that are associated with Down Syndrome such as “low muscle tone, small stature, an upward slant to the eyes, and a single deep crease across the center of the palm” (What is Down Syndrome, n.d.).  However, each person with Down Syndrome is a unique individual with quirks and interests of their own. Additionally, although they may seem different from us in certain ways, they still experience the same emotions that we do.

How do I know if my baby or someone close to me is born with Down Syndrome? Before a baby is born a mother can take two different types of tests for Down Syndrome.  One is a prenatal screen that only provides the possible estimate of the mothers’ chances of having a baby with Down Syndrome (What is Down Syndrome, n.d.). The second is a diagnostic test performed during the second trimester that can provide a definitive diagnosis of Down Syndrome (What is Down Syndrome, n.d.). At birth, Down Syndrome can be diagnosed through the presence of physical traits characteristic of those with Down Syndrome. In order to confirm whether or not a child has Down Syndrome, a doctor may analyze the chromosomes using a karyotype or a chromosomal analysis.

At this moment, scientists are still unsure of the cause of Down Syndrome. However, what is known is that only 1% of all cases of Down Syndrome has a hereditary component (What is Down Syndrome, n.d.). Scientists have a long way to go in knowing everything about Down Syndrome but they are finding treatments to improve the lives of those with Down Syndrome. The treatment largely consists of therapy, but research is still needed for the expansion of the success of such therapies.   

A genetic component is what makes people with Down Syndrome different than those without the condition. However, besides the extra chromosome in their DNA, people with Down Syndrome are the same as any person out there. Even though many people with Down Syndrome also have a mild to moderate cognitive disability or intellectual disability (Mayo Clinic, 2018), they possess diverse talents as well. People with Down Syndrome are a part of our community and shouldn’t be treated differently because of something they were unable to control. They are our friends, our co-workers, our family, our classmates, and our mentors.  If someone you encounter has Down Syndrome, treat them as anyone should be treated: with respect and dignity. With a little more understanding and a lot more love, step by step, a better world can be created to encompass all people, one extra chromosome or not.

 

References

Mayo Clinic: Down syndrome. (2018, March 08). Retrieved September 30, 2018, from https://www.mayoclinic.org/diseases-conditions/down-syndrome/symptoms-causes/syc-20355977

What is Down Syndrome? | National Down Syndrome Society. (n.d.). Retrieved September 30, 2018, from https://www.ndss.org/about-down-syndrome/down-syndrome/

Categories
Down Syndrome Neurodegenerative Disorders

The Link Between Dementia and Down Syndrome

Imagine what it would be like to start to losing the mosaic of memories that makes you who you are.  Imagine what it would be like to wake up in the morning to find out that familiarity escapes your mind’s grasp.  To look at the faces of your family members and loved ones and find nothing- not a spark of intimacy, not an inkling of that warm feeling in your heart that once was tied to memories of your moments with them.  Nothing.

Imagine not being able to remember the way to the restroom in the morning.  What would it be like to suddenly forget which toothbrush is yours? What would it be like to not remember the taste of your favorite meal or forgetting whether or not you’ve eaten that day? Imagine not being able to do the things you have always loved to do, whether it be swimming, photography, art, or something as simple as going up the stairs of your Aunt’s house.  Imagine getting lost on the way home after you go out on a walk, stranded and alone, not knowing your name or who you are. Those with Down Syndrome have a much higher chance to undergo these experiences in their lifetime. The average prevalence rate of Alzheimer’s dementia in people with Down Syndrome is around 15% that increases with age with signs of Alzheimer’s dementia showing over the age of 35 compared to the average early onset of Alzheimer’s dementia at the age of 40 or 50 (Mayo Clinic, 2018; Nieuwenhuis-Mark, 2009).

Research has found that those with Down Syndrome develop Alzheimer’s disease at an average age younger than the mean age for the general population. In a 20-year longitudinal study done by researchers McCarron and Colleagues, following 77 people with Down Syndrome 35 years and older from 1996 to 2015, it was found that 97.4% of those participants developed dementia at a mean age of 55 years old (McCarron et. al., 2017). The manifestation of psychological changes typical of Alzheimer’s disease occur in nearly all persons with Down Syndrome over the 40 years old (Tyler and Shank, 1996).

The symptoms of Alzheimer’s disease are often debilitating and its consequences can be devastating. Researchers William and Lai followed 96 persons with Down Syndrome and non-treatable dementia for 8 years and found that there are three phases of clinical deterioration in these patients. During the initial phases, individuals with high functioning Down Syndrome spoke less, had trouble with their memory, and had feelings of temporarily traveling through time.  Individuals with low functioning Down Syndrome showed: “apathy, inattention, and decreased social interactions” (Tyler and Shank, 1996). During the second phase of dementia, it was noted that those with Down Syndrome had a decline in daily activity performance, deteriorating work performance, and a shuffling gait (Tyler and Shank, 1996). During the second phase, 84% of persons with Down Syndrome also experience tonic-clonic seizures, which cause body stiffness and convulsions.  During the final phase of dementia, those with Down Syndrome stopped walking and lost voluntary control over their urination and defecation, and they passed away typically within 3 to 5 years of the onset of their dementia (Tyler and Shank, 1996). This is quicker than individuals without Down Syndrome, who have later ages of dementia onset and slower rates of deterioration (Tyler and Shank, 1996).

The importance of research is tantamount in the fields of medicine and psychology to diagnose, understand, and eventually treat such cases.  However, Down Syndrome is the least funded, yet most frequently occurring, chromosomal disorder by the National Institute of Health (Facts and FAQ, 2018). In 2010, Down Syndrome Research Funding took up only 0.0009% of the total NIH Budget of $30,860 million (Research for People, 2018).  It is astounding how little is paid to research for such a prevalent genetic disorder.

However, there is hope.  More research has been done on the association between dementia and Down Syndrome as well as the diagnoses and interventions.  There are now interventions to increase an individual with Down Syndrome’s quality of life and maximize their strengths to help them adjust to their changing abilities and needs and live more comfortably by reducing behavioral disturbances (Nieuwenhuis-Mark, 2009).  As quoted by Niewenhuis-Mark in their article, “the development of dementia of Alzheimer type is frequent but not inevitable, and some people with DS reach old age without clinical features of dementia” (Nieuwenhuis-Mark, 2009).  

Not everyone with Down Syndrome will develop Alzheimer’s dementia in old age, therefore research, understanding, and diagnosis is extremely crucial and time sensitive.  

References:

Facts and FAQ About Down Syndrome. (2018, August 17). Retrieved from https://www.globaldownsyndrome.org/about-down-syndrome/facts-about-down-syndrome/?gclid=EAIaIQobChMIiNfm6vi93QIVhB-GCh02KgO-EAAYASAAEgLdz_D_BwE

Mayo Clinic. (2018). Early-onset Alzheimer’s: When symptoms begin before age 65. [online] Available at: https://www.mayoclinic.org/diseases-conditions/alzheimers-disease/in-depth/alzheimers/art-20048356  [Accessed 22 Sep. 2018].

McCarron, M. m., McCallion, P., Reilly, E., Dunne, P., Carroll, R., & Mulryan, N. (2017). A prospective 20-year longitudinal follow-up of dementia in persons with Down syndrome. Journal Of Intellectual Disability Research, 61(9), 843-852. doi:10.1111/jir.12390

Research for People with Down Syndrome: National Institutes of Health Funding. (2018, March 28). Retrieved from https://www.globaldownsyndrome.org/research-for-people-with-down-syndrome-national-institutes-of-health-funding/

Nieuwenhuis-Mark, R. E. (2009). Diagnosing Alzheimer’s dementia in Down syndrome: Problems and possible solutions. Research in Developmental Disabilities,30(5), 827-838. doi:https://doi.org/10.1016/j.ridd.2009.01.010

Tyler, C. V., Jr., & Shank, J. C. (1996, June). Dementia and Down syndrome. Journal of Family Practice, 42(6), 619+. Retrieved from http://link.galegroup.com/apps/doc/A18448466/AONE?u=sunysb&sid=AONE&xid=05d53866