Cook- Down Syndrome- Blog 2

Overview of Down Syndrome

Approximately 400,000 Americans have Down Syndrome (Presson et al., 2013). Down syndrome is the most common type of intellectual disability that results from a chromosomal disorder. The most common form of Down syndrome is Trisomy 21, which occurs when each cell in the body creates a third copy of chromosome 21 instead of the average two copies (Facts about, 2023). Trisomy 21 accounts for over 95% of cases of Down syndrome. However, about 3% of people with Down syndrome have Translocation Down syndrome. Translocation Down Syndrome results when an extra chromosome 21 appears translocated to a chromosome other than chromosome 21. Approximately 2% of people with Down syndrome have Mosaic Down syndrome. Mosaic Down syndrome occurs when some cells in the body form a third copy of chromosome 21, while others have the typical two copies of chromosome 21 in each cell. Individuals with Mosaic Down syndrome usually have fewer symptoms of Down syndrome as the condition affects less of their cells. This discussion will primarily focus on Down syndrome in terms of the condition Trisomy 21 and present an overview of the symptoms as well as the impact on development, cognitive skills, and emotions.

 

Symptoms/Characteristics

Down syndrome can have a variety of symptoms that range in severity of expression from person to person. Symptoms can be cognitive, physical, and behavioral. Symptoms can include mild-moderate intellectual disability, cognitive impairment associated with late development, stunted growth, hypotonia, and specific physical characteristics (Asim et al., 2015). Physical characteristics attributable to Down syndrome can include small stature, slanted eyes, flat nose, short neck, protruding tongue due to a small mouth, and short fingers or toes. A person with Down syndrome may show signs of all of these characteristics or just a few as each person is uniquely different. There can also be behavioral symptoms linked to issues in executive functioning such as difficulties associated with attention, memory, planning, and inhibition (Chanell et al., 2021). Down syndrome affects a person's genetic makeup. The genetic variations that Down syndrome causes can place a person at heightened risk for certain conditions including congenital heart diseases, Alzheimer’s disease, leukemia, cancers, and Hirschprung disease (Asim et al., 2015). It is important to remember that the symptoms and experiences of people with Down syndrome vary substantially, so individuals should avoid forming assumptions about a person with Down syndrome before first getting to know them. Please see the video below to learn more about Down syndrome.

How Down Syndrome Impacts Development

Development for a person with Down syndrome follows its own course. Children with Down syndrome show mild deviation from neurotypical developmental goals early on (Grieco et al., 2015). For example, children may show delayed motor and language development. Children are expected to begin talking around 10 months, but a child with Down syndrome may begin talking closer to 16 months. Walking is expected by about a year, but a child with Down syndrome may begin walking around two instead. Delayed motor development can partially be linked to the chances of reduced muscle tone in most children with Down syndrome. As a child nears school age their nonverbal skills will advance and stay on the trajectory, but verbal skills may begin to show apparent deficits with expressive language delays. For example, storytelling may be challenging. Comprehension is unaffected, but deficits in attention and executive function appear in early childhood that can become more pronounced as one gets older. By adulthood, neurodegeneration may begin to occur affecting emotional and behavioral functioning. 

Visit the link below for an overview of what to expect while your child is developing and typical developmental goals for them if they have Down syndrome. 

Developmental expectations and medical issues for children with Down syndrome

How Down Syndrome Impacts Cognitive Skills

Down syndrome can impact the cognitive skills of a person in a couple ways. Some studies suggest that individuals with Down syndrome may struggle with morphosyntax, verbal short-term memory, and explicit long-term memory problems (Lott & Dierssen, 2010). Individuals may also struggle with impairments in executive function related to working memory as well as the ability to plan, focus attention, practice self-control, learn, memorize information, and make decisions (Channell et al., 2021). Some individuals may also have cognitive delays related to language and speech development. However, it is important to note that individuals with Down syndrome may be slower to learn some things and have to try harder, but they are always still learning like anyone else. Cognitive growth continues to occur throughout development and one's life. Signs of cognitive impairment in Down syndrome are typically mild and sometimes moderate, but not usually severe. 

How Down Syndrome Impacts Emotions 

A small amount of evidence suggests that Down syndrome can make regulating emotions difficult for some people, but the topic is still up for debate as there is not enough information yet to understand how Down syndrome affects emotional competence (Sideropoulos et al., 2023). It is clear that some children with Down syndrome have emotion regulation problems with high rates of frustration. Previously, theorists have suggested that adolescents with Down syndrome have difficulty recognizing emotions, but recent research indicates that there is no support for such claims (Pochon et al., 2017). Children may show emotional deficits when verbal tasks are used to recognize emotions as individuals with Down syndrome have trouble processing verbal information and tasks, but not when nonverbal tasks are used. However, Andres-Roqueta et al. (2021) suggested that adults with Down syndrome may have difficulty understanding emotions and processing them. Negative emotions in particular are thought to be difficult for some people with Down syndrome to process. Even so, most individuals with Down syndrome are very sociable, and social functioning is considered a major strength for them (Naess et al., 2017). Every person is different though, so this information should not be used to perpetuate any stereotypes or form false assumptions. 

References

Andrés-Roqueta, C., Soria-Izquierdo, E., & Górriz-Plumed, A. B. (2021). Exploring different aspects of emotion understanding in adults with Down Syndrome. Research in Developmental Disabilities, 114, 103962. https://doi.org/10.1016/j.ridd.2021.103962

Asim, A., Kumar, A., Muthuswamy, S., Jain, S., & Agarwal, S. (2015). Down syndrome: An insight of the disease”. Journal of Biomedical Science, 22(1). https://doi.org/10.1186/s12929-015-0138-y

Channell, M.M., Mattie, L.J., Hamilton, D.R., Capone, G.T., Mahone, E.M., Sherman, S.L., Rosser, T.C., Reeves, R.H., & Kalb, L.G. (2021). Down syndrome cognition project. Capturing cognitive and behavioral variability among individuals with Down syndrome: a latent profile analysis. Journal of  Neurodevelopmental Disorders, 13(1).https://doi.org/10.1186/s11689-021-09365-2

Developmental expectations and medical issues for children with Down syndrome. (2020). National Down Syndrome Congress. https://www.ndsccenter.org/wp-content/uploads/MilestonesMed-Issues.pdf

Facts about down syndrome. (2023). Centers for Disease Control and Prevention. https://www.cdc.gov/ncbddd/birthdefects/downsyndrome.html

Gigi's Playhouse Inc. (2022, January 26). Down syndrome 101 | What it's like to have Down syndrome [Video]. YouTube. https://www.youtube.com/watch?v=nvytGXnpFaY

Lott, I.T., & Dierssen, M. (2010). Cognitive deficits and associated neurological complications in individuals with Down's syndrome. Lancet Neurology, 9(6),623-33. https://doi.org/10.1016/s1474-4422(10)70112-5

Marini, I., & Stebnicki, M. A. (2018). The psychological and social impact of illness and disability, (7th ed.). Springer Publishing. 

Næss, K.B., Nygaard, E., Ostad, J., Dolva, A.S., & Lyster, S.H. (2017). The profile of social functioning in children with Down syndrome. Disability Rehabilitation, 39(13),1320-1331. https://doi.org/10.1080/09638288.2016.1194901

[Photograph of baby playing]. (n.d.). https://www.noldus.com/static/images/core-blog/cognition-infants-down-syndrome.jpg

[Photograph of baby with Down syndrome]. (n.d.). https://www.punekarnews.in/down-syndrome-things-parents-need-to-know/

[Photograph of brain of person with Down syndrome]. (n.d.). https://www.thelancet.com/cms/attachment/2000992345/2003665440/gr1.jpg

Pochon, R., Touchet, C., & Ibernon, L. (2017). Emotion recognition in adolescents with Down syndrome: A nonverbal approach. Brain Sciences, 7(6). https://doi.org/10.3390/brainsci7060055

Presson, A. P., Partyka, G., Jensen, K. M., Devine, O. J., Rasmussen, S. A., McCabe, L. L., & B. McCabe, E. R. (2013). Current estimate of down syndrome population prevalence in the United States. The Journal of Pediatrics, 163(4), 1163. https://doi.org/10.1016/j.jpeds.2013.06.013

Sideropoulos, V., Sokhn, N., Palikara, O., Van Herwegen, J., & Samson, A. C. (2023). Anxiety, concerns and emotion regulation in individuals with Williams syndrome and Down syndrome during the COVID-19 outbreak: A global study. Scientific Reports, 13(1), 1-14. https://doi.org/10.1038/s41598-023-35176-7