Cook-Down Syndrome-Blog 4

Overview of Down Syndrome

Down syndrome is a genetic disorder that can cause mild intellectual disabilities and developmental delays in children (Kazemi et al., 2016). Down syndrome is not inheritable, but it is genetic in the sense that it is most often caused by the formation of an extra chromosome 21. Meaning, a person has three of the 21st chromosome instead of two.  This blog will discuss the psychological concepts, theories, and models associated with Down syndrome as well as provide an overview of how those within a person's environment can help support their disability. 

Psychological Concepts

Psychological concepts are used to understand a person and why they behave in certain ways based on the context that influences them. Concepts seek to interpret abstract ideas into words that can be understood in a universally accepted way. Down syndrome is conceptualized as a genetic disorder triggered by the existence of a third chromosome 21 that causes delayed growth, mild intellectual disability, and characteristic facial features (Akhtar & Bokhari, 2023). Down syndrome can cause cognitive impairment, learning difficulties, as well as difficulties in thinking and reasoning (Potier & Reeves, 2016). For this reason, Down syndrome can also be conceptualized as a neurodevelopmental disorder or even a disability as it may be referenced as an intellectual disability. Down syndrome can be psychologically conceptualized as a condition that causes unique developmental patterns due to differences in a person's ability to process and interpret information in their environment. 

Theories Down Syndrome

Genetic theories of Down syndrome posit a genetic cause due to an extra chromosome copy, but theories have come a long way further in understanding Down syndrome and pinpointing a cause. One theory that can be applied to Down syndrome is the theory of protein deficiency or gene dosage effect (Kuhn et al.,2013). Researchers have found that individuals with Down syndrome have high RNA levels that inhibit protein levels, which could explain how the syndrome leads to cognitive impairment and congenital heart defects. People with Down syndrome tend to have RNA dysfunction on microRNA-155, which can be found within chromosome 21. When microRNA-155 does not work properly it can inhibit the level of protein in certain areas in a person's body causing cognitive impairment as seen in Down syndrome and heart defects which are common for people with Down syndrome.  

Psychological theories attempt to explain phenomena related to human behavior or thought processes based on facts. The primary psychological theory applied to Down syndrome is the theory of mind (Neitzel & Penke, 2021). The theory of mind refers to the theory that people have the capacity to understand and attribute mental states to themselves and others. This theory is useful in applying to those with Down syndrome as it helps to explain the social development of individuals with Down syndrome as well as cognitive. Neitzel and Penke (2021) report that children with Down syndrome have trouble with the concept of false beliefs when tested for their understanding of social situations using the theory of mind. Essentially, this means that children with Down syndrome may have trouble recognizing that other people do not possess the same knowledge as them. This finding backs the previous findings and explains why individuals may have difficulties in processing information and emotional expressions of others. Research using the theory of mind has suggested that children with Down syndrome may have delays in developing joint attention, inhibitory control, working memory,  and difficulty establishing foundational knowledge causing them to develop their theory of mind at a slower pace than other children might. 

Models of Down Syndrome

To explain briefly, psychological models are essentially theoretical representations used to explain psychological processes. Down syndrome is often understood through a medical, functional, social, or biopsychosocial model. The medical model of Down syndrome suggests the disorder is caused by a biological defect (Marini & Stebnecki, 2018). For example, having an extra chromosome is often considered a biological defect causing Down syndrome. The functional model of disability is fairly similar. When applied to Down syndrome the functional model suggests that disability is caused by impairments such as a person's cognitive deficits. Social models of disability suggest that disabilities like Down syndrome are caused by societal barriers (Inglis et al., 2014). An example of a societal barrier could be a lack of early intervention services or early childhood programs ready to accommodate those with Down syndrome's needs. The biopsychosocial model understands Down syndrome as being caused by impairments, and pathophysiological problems, as well as psychosocial and lifestyle factors (Brugnaro et al., 2022). The biopsychosocial model takes a more holistic approach and considers biology as well as social barriers that contribute to disability. 

Animal models of Down syndrome have also been increasingly useful in understanding the condition and identifying genotype and phenotype relationships (Herault et al.,2017). In particular, rodent models are commonly used to understand just how complex the condition is as similar features of Down syndrome can be found or created in rodents. By studying rodents, scientists can gain a better idea of the impact of a third chromosome on a person's whole genome. Animal models help to understand as well as pinpoint the causes of Down syndrome in the hope of informing intervention methods and improving their efficacy. However, animal models can be challenging to utilize due to ethical concerns and the difficulty of applying animal-related information to humans. 

How Those Within One's Environment Can Help

Professionals

Individuals with Down syndrome may benefit from the help of a variety of professionals such as special educators, speech therapists, occupational therapists, physical therapists, as well as social workers who all want to aid in helping the person meet meaningful life goals and make developmental progress (What are, 2023). Professionals help connect individuals with early interventions, educational opportunities, and assistive devices to help accommodate their learning needs or physical therapy needs. Professionals provide support, motivation, and opportunities to individuals with Down syndrome that can aid them in gaining a sense of independence. However, individuals need to reach out and show that they are willing to actively engage with a professional in order to gain their help in ways that can produce long-term benefits. 

Family

One way a family can support a child with Down syndrome is by providing them access to professional services that can aid their development, which can help lead to greater growth (Mohammed Nawi et al., 2013). However, connecting a child with professional services is not the only way that a family can help a family member with Down Syndrome.  One way a family can help is by participating in professional services themselves. Family should participate fully in interventions their child engages in as this can lead to greater acceptance and support in the family as individuals who engage in the intervention are more likely to understand the nature of Down syndrome and the strengths of their family member with it.  The greatest way a family can help is by understanding and communicating openly with their family member with Down syndrome. Many individuals with Down syndrome do not want to be treated differently than anyone else, which is important to understand. Just like any child, it is important that a child with Down syndrome is acknowledged, supported, and feels that their emotions and thoughts are validated. A family needs to provide a nurturing environment. 

See the video below for more information on how families can help Down syndrome:

Friends

With that said, another way those within a person with Down syndrome's environment can provide help is by treating them normally and befriending them (Guralnick et al., 2011). People with Down syndrome can sometimes struggle to make friends due to the social stigma associated with being disabled and deficits in social competence. However, friends provide social support which can be an important measure of well-being as well as quality of life. Individuals can help someone with Down syndrome by setting aside their stereotypical thinking and reaching out to befriend them. Friends should help to ensure an individual with Down syndrome is socially included. To be a friend a person should try to show patience, monitor any potential bias or prejudice, and practice perspective-taking. 

For additional resources please see the link below:

References

Akhtar, F., & Bokhari, S.R.A. (2023). Down syndrome. StatPearls Publishing. https://www.ncbi.nlm.nih.gov/books/NBK526016/

Brugnaro, B.H., Oliveira, M.F.P., de Campos, A.C., Pavão, S.L., & Rocha, N.A.C.F. (2022). Postural control in Down syndrome and relationships with the dimensions of the International Classification of Functioning, Disability and Health - a systematic review. Disabil Rehabilitation, 44(11), 2207-2222. https://doi.org/10.1080/09638288.2020.1830439

Guralnick, M. J., Connor, R. T., & Johnson, L. C. (2011). The peer-related social competence of young children with Down syndrome. American Journal on Intellectual and Developmental Disabilities, 116(1), 48. https://doi.org/10.1352/1944-7558-116.1.48

Herault, Y., Delabar, J. M., Fisher, E. M. C., Tybulewicz, V. L. J., Yu, E., & Brault, V. (2017). Rodent models in Down syndrome research: impact and future opportunities. Disease models & mechanisms, 10(10), 1165–1186. https://doi.org/10.1242/dmm.029728

How to help children and young people. (2023). National Health Service. https://www.nhs.uk/conditions/downs-syndrome/how-to-help-children-and-young-people/

Inglis, A., Lohn, Z., Austin, J. C., & Hippman, C. (2014). A 'cure' for Down syndrome: what do parents want?. Clinical genetics, 86(4), 310–317. https://doi.org/10.1111/cge.12364

ITV News. (2018). Raising a teenager with Down's syndrome [Video]. YouTube. https://www.youtube.com/watch?v=SmlV13zCEeM

Kazemi, M., Salehi, M., & Kheirollahi, M. (2016). Down syndrome: Current status, challenges and future perspectives. International journal of molecular and cellular medicine, 5(3), 125–133. https://doi.org/10.22088/ACADPUB.BUMS.5.3.125

Kuhn, D.E., Nuovo, G.J., Terry, A.V., Martin, M.M., Malana, G.E., Sansom, S.E., Pleister, A.P., Beck, W.D., Head, E., Feldman, D.S., & Elton, T.S. (2013). Chromosome 21-derived microRNAs provide an etiological basis for aberrant protein expression in human down syndrome brains. Journal of Bio chem, 288(6).https://doi.org/10.1074/jbc.a109.033407

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

Mohammed Nawi, A., Ismail, A., & Abdullah, S. (2013). The impact on family among Down syndrome children with early intervention. Iranian journal of public health, 42(9), 996–1006. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4453896/

Neitzel, I., & Penke, M. (2021). Theory of mind in children and adolescents with Down syndrome. Research on Developmental Disabilities,113(103945). https://doi.org/10.1016/j.ridd.2021.103945

[Photograph of down syndrome model]. (n.d.). https://cdn.dseonline.app/library/a/reviews-129-moore-fig1-650pxw.png

[Photograph of kids painting]. (n.d.). https://www.eltribuno.com/salta/nota/2023-3-21-0-0-0-haran-en-salta-diversos-eventos-por-el-dia-mundial-del-sindrome-de-down

[Photograph of theory of mind]. (n.d.). https://www.verywellmind.com/theory-of-mind-4176826

Potier, M. C., & Reeves, R. H. (2016). Editorial: Intellectual disabilities in Down syndrome from birth and throughout life: Assessment and treatment. Frontiers in behavioral neuroscience, 10(120). https://doi.org/10.3389/fnbeh.2016.00120

What are common treatments for Down syndrome? (2023). National Institute of Health. https://www.nichd.nih.gov/health/topics/down/conditioninfo/treatments

Comments

Post a Comment

Popular posts from this blog

History of Disability By Kaylee Cook

Image
Introduction to Disabilities The term disability refers to any condition, whether of mind or body, that interferes with a person's ability to function in their environment either by preventing them from doing certain things or slowing them down (Friedman & Owen, 2017). In the United States alone there are approximately 57.8 million people living with disabilities and the majority of people will acquire at least one type of disability during their life (Peacock et al., 2015). With the prevalence of disabilities within the world it is important to understand the psychology of disability. Historical and contemporary views on disabilities have significantly shifted, but many stereotypes still persist in society as a result of various cultural perceptions.  Historical and Contemporary Overview Conditions for people with disabilities still are not perfect, but the rights of individuals with disabilities within the United States have come a long way over the years. In the 1800s, many ...
Read more

Cook- Down Syndrome- Blog 2

Image
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 condi...
Read more

Cook- Down Syndrome- Blog 6

Image
Down Syndrome Down syndrome is a genetic disorder characterized by delayed development, mild intellectual disabilities, and characteristic facial features (Akhtar, F., & Bokhari, 2023). Down syndrome is caused by a third chromosome 21. Down syndrome is considered a disability, which makes it essential to consider how it legally and ethically relates to the law.   Legal and Ethical Concerns There are a couple of legal and ethical concerns related to having a disability like Down syndrome. Legally, individuals with Down syndrome have a right to fully participate in all aspects of civic life, which means that there needs to be regulations and standards in place to protect their rights ( Law, Regulations & Standards, 2023). Businesses, governments, and education systems are mandated to make reasonable accommodations for community members with Down syndrome to participate. Reasonable accommodations mean that accommodations are readily achievable without much expense or dif...
Read more