Syndrome Down (DS) or Trisomy 21 has a huge social and medical cost in human population. The main purpose of the present study is to assess the parental origin of trisomy 21. Subsequently, the stage in which nondisjunction occurs and the role of maternal age and altered genetic recombination events will be observed. Furthermore, Syndrome Down is associated with number of phenotypes including acute leukemia. Thus, the genetical and clinical features of acute lymphoblastic leukemia (ALL) in Down syndrome will be mentioned.
Introduction
Syndrome Down (DS) or Trisomy 21 is one of the most serious and important causes of mental disability. Often patients may suffer from other equally serious diseases. Some examples are congenital heart disease (CHD), Alzheimer disease, cancers and especially acute lymphoblastic leukemia (ALL). Patients are very often more likely to suffer from additional diseases. However, recent surveys have led to an increase in the lifetime of an average patient with Syndrome Down (more specifically 55 years of life) (Asim et al. 2015).
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Syndrome Down is one of the most serious but also frequent chromosomal abnormalities universal. Trisomy 21 is caused during maternal meiotic division where the chromosomal nondisjunction happened and leads to the disease. Mistakes in the meiotic division occur more often in the first maternal meiotic division than the second one.
The phenotype results from DS patients are complex of disparities of genes in chromosome 21 (Hsa 21). The genetic nature of the syndrome combined with the size of the Hsa- which is small- has given scientists the last years boldness to understand better the disease and show its character. Some other causes are a Robertsonian translocation or ring chromosome (Asim et al. 2015). As mentioned, patients of Syndrome Down are likely to suffer from additional diseases. The most common of them is the acute lymphoblastic leukemia (ALL) which causes death to the individuals with Trisomy 21. The percentage of ALL disease in the DS patients is quite big because ALL affects 1 in 300 DS patients. In addition, studies make clear that the outcome of patients of Syndrome Down and Acute Lymphoblastic Leukemia (DS-ALL) is inferior to that of non-DS-ALL. This report will assess the parental origin of trisomy 21 and the differences -genetical and clinical- between DS-ALL patients and non-DS-ALL people.
Moreover, will evaluate the maternal age and the altered genetic recombination as risk factors and the relationship between these two. To answer these questions a study with DS patients from Croatian population will be investigated (Vranekovi et al. 2012). Finally, a study will be considered to classify and review 128 DS-ALL pediatric diagnoses in the Nordic counties between 1981 and 2010 (Lundin et al. 2014).
Main body
First of all, it is well established that in Syndrome Down or Trisomy 21 one of the factors that have a child with the disease is the mother’s age (maternal age). However, modified genetic recombination is an additional risk factor. Thus, the purpose of this paper is to assess the relationship between altered genetic recombination and maternal age as risk factors for the Syndrome Down. ?n this experiment, there is a collaboration of the largest cities in Croatia. The number of the blood samples which collected from DS patients was 116 and in 76 cases both mother and father were available.
In 40 cases, only the maternal samples were obtained. All parents were healthy and so the karyotypes of them were confirmed as normal. In the experiment the parental origin of trisomy 21, the maternal age as a risk Vasilis Michalopoulos 2646938 factor and events of genetic recombination were analyzed. The study confirmed that the phenomenon of advanced maternal ageing as a risk factor was limited to maternally derived trisomy 21 and was associated with both Meiosis I (MI)and Meiosis II (MII). To conclude, the highest proportion of zero genetic recombination events was found in cases with maternal MI derived trisomy 21 (Vranekovi et al. 2012).
Many of Trisomy 21 patients have increased the risk of developing acute lymphoblastic leukemia (ALL). Although there are differences -genetical and clinical- between DS-ALL patients and non-DS-ALL people and in this section will be mentioned. Initially, this experiment included a total of 128 childhood and adolescents, were diagnosed for 29 years (between 1981 and 2010) in the Nordic countries. Thus, the clinical and genetic characteristics of all DS patients with B-cell precursor (BCP) ALL were compared only with those of non-DS BCP ALL cases of diagnosis at the same time.
The results showed, that DS-ALL have less common and abnormal karyotype comparing to non-DS-ALL people. Moreover, the induction failure is more common in DS-ALL patients than non-DS-ALL. This founding was not surprising because it had repeatedly observed. Finally, it has not been proven clearly in DS-ALL previous, that WBC (white blood cell) count was the only factor which associated with patients’ survival. Although, a high WBC count is a deep-rooted risk factor in pediatric non-DS-ALL (Lundin et al. 2014).
Thus, it is well understood from the foregoing paragraphs that maternal age is a risk factor for the birth of a child with trisomy 21 and is associated with both MI and MII. In maternal MI, there is the highest probability of zero genetic recombination events to occur. In addition, two differences were found between DS-ALL and non-DS-ALL people. The first one is the presence of an abnormal karyotype and the second one is the incidence of the induction failure. Lastly WBC count proved as a factor associated with survival on DS-ALL patients.
The purpose of this study is to first assess the paternal origin of trisomy 21. This finding was shown for the first experiment as mentioned. So, maternal origin includes the highest percentage of the parental origin with 93% followed by the paternal with 5% and mitotic origin of 2%.
Discussion
Syndrome Down is a serious and very common disease. It is a chromosomal abnormality and it is well understood, but many theories and experiments advised and began from scientists in order to find better results and improve in phenotype and genotype correlation. Maternal age is the most well-known risk factor as reported for the disease. Thus, parents must be aware of the specific factor in mind before the pregnancy decision. In particular, parents of 34 years of age and above should be very careful. If a family gets a child with trisomy 21, they should be ready for the incidence of acute lymphoblastic leukemia. An additional risk factor is the altered genetic recombination. It is noteworthy, that DS-ALL patients show less often an abnormal karyotype than the non-DS-ALL people. The DS-ALL ‘’normal’’ karyotype has yet another chromosome 21.
By contrast, failure of induction is more common in DS-ALL patients than non-DS-ALL. The first experiment provides information about the parental origin of trisomy 21. As was supposed to be less, the origin was paternal and mitotic. Although, some improvements in the first’s study experiment would be done.
Thus, the size of the sample, which covers the maternal age allocation, it could be better if it was not so small because it provides information about the parental origin of Down Syndrome. To conclude and make clear most of the parental origin of trisomy 21 is maternal and is over 90 % in a Croatian population. However, Down Syndrome does not have a specific percentage in every human population in the world and there are differences between them.
The Steps To Understanding ADD ADHD
A few decades ago, children previously categorized as “hyper”, “mentally slow”, or even “badly parented” began being recognized by doctors, parents, and schools. Research about the brain and behavior lead to what is now commonly known as ADD or ADHD and is more widely understood. Now neurologists, doctors, and teachers are better equipped to help these individuals in their everyday lives, even going beyond childhood.
Even still, it is often hard to understand the problem that is ADHD and how it affects those with this condition. Yet, it is possible to understand more fully those with ADD and ADHD, and this begins with learning about the processes that are unique to this condition. Many can learn about these processes and issues within the brain by following a few steps: recognizing what ADHD is and how it is unique, including the differences and similarities between ADHD and ADD, understanding the role of a main part of the brain, learning about how the conditions affect individuals in daily life, and discovering what happens to create miscommunication and bring out known symptoms.
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Whenever one is beginning to learn about any subject, from a famous person’s life to an invention to a complex process, the first step is to understand the basic factors or qualities that make the subject unique. Since ADD and ADHD are conditions existing within the human brain, it makes sense to gain a basic sense of the differences between the brain with these neurological conditions and the brain without them (sometimes referred to as “neurotypical”, in reference to the brain itself or individuals who do not have a neurological condition). Additionally, worth mentioning later are the key similarities and differences between ADHD and ADD. To begin with, consider the distinctions of the ADHD brain versus the neurotypical one.
There are, in fact, many differences (as well as similarities), and a list of all the details would be too extensive for the purposes of a beginning understanding. However, there is one major difference that paves the way for a further discussion of more relevant points, which is that the brain governs its functions. Dodson’s claim concerning “the ADHD nervous system”, as he described it, helps to present ADD and ADHD as an integral part of brain activity and responsiveness in those who have one of these conditions.
An important thing to note, however, is that there is a difference between ADD and ADHD, and how the symptoms manifest in an individual. For the purposes of discussing information from sources on processes and symptoms of these conditions, it is best to accept that information as generally relevant to both ADD and ADHD. Many of these sources will only mention ADHD, and some view the two conditions as variations of the same disorder.
This claim is arguable, but it is also helpful to keep in mind the differences, since it adds to a better understanding both of people with either one disorder or the other, and a better understanding of how the brain and its complex processes work, which is the goal in following the main steps mentioned in the introduction. These differences effectively contrast ADD and ADHD. showing that the conditions are, indeed, separate but still similar to one another in several ways. After identifying the broader differences in the brain of those with ADHD and ADD, this leads to the questions, ‘Just why is the ADD (or ADHD) brain different? How does this affect an individual, and where do the symptoms come from?’ Understanding and learning about the ADHD brain can come in three progressively more in-depth steps.
The first of these is to realize how a certain part of the brain is instrumental in creating miscommunications. Previously, an excerpt from an online article by William Dodson, M.D., brought out the presence of “the ADHD nervous system”, which controls the brain’s activity in an exclusive way, evidently causing the miscommunications.
However, in the ADHD brain, it does not act normally. Kravit draws the connection between inattention- a common symptom- and the malfunctions of the prefrontal cortex, saying, The inability to give attention to what, in some cases, should be claiming top priority, is also due to the prefrontal cortex malfunctioning. Since it decides on the course of action to take, This leads to another factor in the behavior of the prefrontal cortex- emotions. ADHD brains subconsciously focus more on whatever invokes more of an emotional response. This response leads to an action on the part of the prefrontal cortex that expresses the associated emotion, so,Thus, an individual may be subject to a sudden switch in mood or emotions, even if the same event that caused the switch does not seem to affect others around them.
This information, dealing with the prefrontal cortex responding and acting in an atypical manner and having control over the brain, is essential to the complex process of understanding ADHD from the inside out, so to speak. After discovering the importance of the prefrontal cortex in individuals with ADD or ADD, the next step is to learn how its faulty reactions lead to the symptoms many with these conditions display. As shown, the differences in those with ADHD start within the brain.
Next, one must find out what is caused by the prefrontal cortex malfunctions- the symptoms of ADHD. Understanding examples of symptoms that plague individuals, and why, leads to a more complete knowledge of how everyday life is different, and often a challenge, for people with ADD and ADHD. There are many symptoms; some are well-known and others are not very well understood. Consider four major aspects of life that are abnormal in an ADHD individual. One that is more common and a recognized indication of this disorder is attention deficit.
This is linked with the hyperactivity that many children with ADHD experience, but the truth is that the hyperactivity does not ever fully go away. Instead,which could make many wonder if attention deficit and hyperactivity always coexist, even in adults. In fact, they are linked, because a person who is hyper within essentially has too much energy for their brain to work with. Clearly, this would pose a challenge for both children and adults at school, at home, or in the workplace. Another challenge is organizational skills, which are more often than not lacking in those with ADHD.
Interestingly, however, it is not as much of an inability to organize as it is that,Therefore, those with ADD or ADHD have trouble adhering to typical ways of organizing many types of things, such as wallets, pencils, scraps of paper with notes, or even future dates on the calendar. Since the brains of these individuals are fundamentally different when it comes to receiving, processing, and responding to information, many of them find it hard to organize and separate things in ways that work for the majority of the population.
Also, if they do organize in a way that seems unnatural to them, it is likely that it will not remain that way. One symptom that may not be as well known is a lessened and incomplete concept of the past, present, and future, and the differences between them. This does not mean that a person with ADHD cannot tell whether he is in the present or is reliving events from the past; rather, it means that,The information from this source consists of three basic results of a lessened sense of time.
First, the present is the main focus. Second, a lack of a concept of the past leads to difficulty learning from it. Third, a lack of a concept of possible events in the future leads to a lapse in foresight and impulsivity. Certainly, every individual with ADHD and ADD is different and experiences more or less difficulty in dealing with certain symptoms; however, a person with one of these conditions, especially ADHD, is more prone to impulsive actions because previous experience does not affect his thoughts.
Lastly, a symptom that people with these conditions may experience is an overwhelming of the senses, or an inability to ignore certain sensory information. This is not a very commonly recognized symptom, but nevertheless, it has the potential to cause increased difficulty for a person, even in an otherwise low-stress environment. (This can be likened to a sensation that sometimes happens to people, which is sometimes called “sensory overload” or something of the like.)
Most people can agree that a painfully loud noise or a particularly pungent odor would disrupt them. This disruption happens in ADHD people not only when they are experiencing hyperacusis, but whenever any over their symptoms are apparent. Learning about the symptoms of ADD and ADHD and why and how those symptoms manifest themselves is a crucial step in understanding people with these disorders. It gives a glimpse into the complexity of the human brain as well as how to provide and encourage environments that are accommodating for ADHD students, teachers, workers, and parents.
Ultimately, a full understanding of the scope of ADHD must include the process of how individual parts in the brain work together, and how that is altered in individuals with this condition. The knowledge of the roles of the prefrontal cortex and emotions, as well as a realization of the symptoms of ADD and ADHD, leads to the discovery of what causes miscommunication in the brain and the resulting symptoms. First of all, there are three main neural networks whose processes are askew in the ADHD brain. Sousa goes on to explain the chief purposes of each of these neural networks. Functioning in the order that they are described, alerting is the first responder that blocks out what is going on in the background so that the brain can give attention to whatever is demanding it.
The next network is orienting, which is fairly self-explanatory; the brain essentially orients the person to Finally, executive control actually leads to the individual’s response. These neural networks are all used constantly by every human being, but in the brains of people with ADHD, a malfunction all three of which are known symptoms of ADHD. Another atypical occurrence in the brain that may provide clues to miscommunications and symptoms of this neurological disorder is deficiencies in certain regions of the brain. Three such regions are the corpus callosum, the frontal and temporal lobes, the executive control system (which is a separate brain structure from the executive control neural network), and various neurotransmitters.
To begin with, David Sousa informs readers of his book, written about the brains of people with various neurological conditions, that the corpus callosum is responsible for the transmission of information within the brain. However, it is enlarged in the ADHD brain, and within it,Evidently, this condition could be formed in part due to malfunctions of the corpus callosum. Secondly, to interpret Sousa’s clarification on the flaws of the frontal and temporal lobes, a similar issue with these parts of the brain is seemingly partly to blame for highly emotional reactions from ADHD individuals.
Instead of being enlarged, though, as is the corpus callosum, in the ADHD brain they are abnormally small, which causes problems in proper operating. Next, a deficiency in the executive control system, clearly making it very difficult to handle secular, home, or schoolwork at the same pace as everyone else. Lastly, many neurotransmitters monitor behavior, soThis could very well be one of the reasons why people with ADHD may have a hard time controlling their behavior, thoughts, and actions, even if it seems that they know how to. On a less specific note, yet still influential in ADD and ADHD brains, is an abnormality called input and output disorders. One article states, of course, these issues are not only affecting students.
They can create, or at least add to, the already manifested symptoms of ADHD. To rephrase the findings from the aforementioned article, input disorder does not let the individual process the information they need to because their mind is not properly focused; and output disorder makes it a challenge for that individual to actually complete an assignment on something they have been taught. This undoubtedly can and has created obstacles for students, teachers, families, and friends.
Finally, one other factor that may explain and/or account for symptoms and miscommunications associated with ADHD is the fact that many do not only have ADD or ADHD; in reality, A few of the “coexisting conditions” that an ADHD person may have listed in the quoted article were mood disorder, conduct disorder, and learning disabilities. Most, of course- if any at all- would have every one of those coexisting conditions; yet, individuals diagnosed with one or more of those other disorders may have a reason for some of the symptoms they experience. Hence, the step of discovering what parts of the brain cause the miscommunications and symptoms of ADHD is an important step in the complex process of understanding ADHD as a unique disorder and understanding those who suffer from it.
Many teachers, parents, students, or doctors today would agree that ADHD is, indeed, a widespread problem- in fact, most probably would say they know someone with ADHD or ADD- a child, a parent, a student, a patient, or a friend. With all the recent research and new recognition of ADHD as a valid and prevailing condition, there is still much mystery surrounding it- how it makes individuals “different”, what causes it, what creates the symptoms, and more. However, it is possible to gain at least some understanding, either for learning purposes or to be the best help to ADHD individuals in one’s life. This can mean a great deal to all involved, and it all can be accomplished by four main steps:
- identify how ADHD is unique as a condition;
- recognize the role of brain control centers and emotions;
- understand what the symptoms of ADD and ADHD are and how they affect everyday life, and lastly;
- discover how all of this is caused within the brain.
With this knowledge, schools, homes, workplaces, and medical practices may just be able to better accommodate those with ADHD.
Works Cited
- Dodson, William. “‘OMG, So That’s Why I Do That?!”.” ADDitude, New Hope Media, 11 May 2018, www.additudemag.com/slideshows/decoding-the-adhd-mind/.
- Dodson, William. “Secrets of Your ADHD Brain.” ADDitude, New Hope Media, 9 May 2018, www.additudemag.com/secrets-of-the-adhd-brain/.
- Kravit, Alison. “Everything You Never Knew About the ADHD Brain.” ADDitude, New Hope Media, 2 Aug. 2018, www.additudemag.com/adhd-brain-prefrontal-cortex-attention-emotions/?utm_source=el etter&utm_medium=email&utm_campaign=best_august_2018&utm_content=080318.
- Sousa, David A. How the Special Needs Brain Learns. 3rd ed., Sage, 2016.
- Williams, Penny. “Your Child’s ADHD Is an Iceberg.” ADDitude, New Hope Media, 7 Aug. 2018, www.additudemag.com/what-is-adhd-symptoms-hidden-parents-educators/.
- Williams, Penny, et al. “50 High School Accommodations for Every ADHD Challenge.” ADDitude, New Hope Media, 14 Aug. 2018, www.additudemag.com/accommodations-iep-for-high-school-students/.
