DiGeorge Syndrome (22q11 deletion) Study Guide

Since early identification plays a critical role in understanding DiGeorge Syndrome (22q11 deletion), it is imperative to understand the clinical manifestations, causes, and complications as well as the current approaches to diagnosis and treat the condition.

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DiGeorge Syndrome (22q11 deletion) Study Guide

Discussions regarding the handling of DiGeorge syndrome have attracted the attention of various healthcare practitioners.  Better known as 22q11.2 deletion syndrome, DiGeorge’s syndrome occurs due to a health disorder that results in the deletion of some parts of chromosome 22. About 30 to 40 genes found at the central part of chromosome 22 are deleted, leading to DiGeorge syndrome. The deletion occurs at the 22q11.2 regions of the chromosome hence the name. The disease is considered one of the leading forms of microdeletion disorders in human beings, with a prevalence of about one person every 3000 to 6000. Despite occurring in high numbers, as illustrated above, little is still known about the disease associated with heart complications, aplasia, and hypocalcemia. Several factors are responsible for the lack of knowledge regarding the disease. However, the critical factor is linked to the lack of appropriate diagnostic measures and various names to refer to the disease. Some of the common names used include DiGeorge, velocardiofacial, Catch 22 syndromes, and Shprintzen. All the mentioned conditions are classified under 22q11.2 deletion. Understanding DiGeorge syndrome, therefore, requires adequate knowledge of the healthcare condition and its management. Likewise, effective management of the disorder calls for timely identification of the disease.  Since early identification plays a critical role in DiGeorge syndrome outcomes, it is imperative to understand the clinical manifestations, causes, and complications as well as the current approaches to diagnosis and treat the condition.

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Clinical Presentations of DiGeorge Syndrome (22q11 deletion) Study Guide

DiGeorge syndrome is revealed by diverse symptoms that manifest themselves through different medical complications. The disease’s key symptom is depicted by changes in the heart (Woolman et al., 2019). The disease leads to heart murmurs that are often associated with changes in the skin color to bluish. The change in skin color is associated with the supply of low-oxygen blood. Facial anomalies comprise another set of symptoms associated with DiGeorge disease (Kraus et al., 2018). The anomalies are depicted by underdevelopment in different parts of the face, for instance, a wide set of the eyes, ears that are set low, undeveloped chin, and a narrow groove of the upper lips. The anomalies may also occur in children in different ways compared to adults. For instance, children at the neonatal stage develop a subtle facial phenotype. Thus, the authors point at understanding the facial anomalies in children at the neonatal stage as significant in detecting instances of 22q11.2 deletion in children. Speech complication is another symptom that is present in people with DiGeorge disorder. According to Sullivan (2019), 80% of the children experiencing DiGeorge syndrome have speech and learning disorders. The complications arise from the slow development of the motor, linguistic and cognitive functions of the body. The slow development rate in children with DiGeorge syndrome leads to manifestations of late learning and speech comprehension. Learning difficulties are illustrated by challenges in comprehending reading and solving mathematical challenges. Delayed developments arising from DiGeorge syndrome are not showcased in speech and learning alone. On the contrary, there are diverse aspects of the body’s physical growth whose monitoring can convey the existence of DiGeorge syndrome. The physical challenges are depicted by delayed growth, failure to gain weight due to feeding challenges, and difficulties in sitting or rolling over due to poor muscle toning (Fomin et al., 2010).

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Cause of DiGeorge Syndrome (22q11 deletion) Study Guide

DiGeorge syndrome is associated with different causes. The key cause of the condition is the microdeletion of genes in chromosomes.  Every human being has a pair of chromosome 22. The pair results from individuals getting one copy from each parent. However, there are instances where some of the human genes are missing on one of the chromosome 22 pairs. In particular, the genes seem to be missing from the 22q11.2 part of chromosome 22. Deletion of one copy of chromosome 22 is considered responsible for the loss of approximately 30 to 40 genes. However, the actual identity of the genes that are deleted is yet to be established.  The deletion occurs in one of the chromosome 22 pairs, each borrowed from one parent, which means that the cause may lie in the mother’s egg or father’s sperm that fused, thereby leading to an individual’s birth. Deletion of chromosome 22 is depicted to occur in the sperm cell or the eggs randomly. The deletion is also highlighted as likely to occur during early fetal development stages. According to Digilio et al. (2005), 9 out of every 10 cases of individuals with DiGeorge’s syndrome are attributed to missing chromosome 22 from the father’s sperm or mothers’ egg. Thus, the findings depict that microdeletion in either the father’s sperm cell or mother’s egg account for 90% of DiGeorge syndrome cases. Another cause of DiGeorge syndrome is gene inheritance. Parents with deleted 22q11.2 may pass the genes to their offspring. Inheritance of the genes missing chromosome 22 components is responsible for the remaining 10% of DiGeorge syndrome. Unlike the egg or sperm deletion cases, DiGeorge syndrome arising from the inheritance of missing chromosome 22 is depicted as mild hence may not be realized in some instances (Digilio et al. 2005).

Complications of DiGeorge Syndrome (22q11 deletion) Study Guide

DiGeorge syndrome is linked to several health complications.  The health complications arise due to the body’s nature to miss the 22q11.2 components of chromosome 22. The 22q11.2 genes are considered valuable for different aspects of a person’s growth.  Therefore, the missing 22q11.2 means that a person is likely to develop a myriad of development challenges. Complications of the heart are considered to be the major health issue arising from the absence of 22q11.2. The realization is seen in Kim et al. (2020) that heart defects are the most severe complications of the syndrome. The authors stipulate that 75% of the DiGeorge syndrome screening diagnosis reveals diverse cases of heart complications.  Insufficient flow of oxygenated blood is one of the severe forms of heart problems realized in people suffering from DiGeorge syndrome. One such complication the existence of a hole in the lower chambers of the heart. Another complication is illustrated in the heart appearing as one large vessel instead of the conventional two coming out of the heart. The heart complications can also be illustrated by developing four abnormal structures in a condition referred to as tetralogy of Fallot.

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Diagnosis of DiGeorge Syndrome (22q11 deletion) Study Guide

DiGeorge syndrome is also responsible for causing Hypoparathyroidism. The condition normally arises from the imbalance of calcium and phosphorus levels in the blood. The neck’s parathyroid glands are responsible for the regulation of calcium and phosphorus levels in the body. The absence of 22q11.2 due to deletion causes the parathyroid glands to be small, thereby leading to the parathyroid hormone’s low secretions. The situation results in little calcium and more phosphorus levels in the blood hence resulting in Hypoparathyroidism.  DiGeorge syndrome is also responsible for the onset of diverse infections due to thymus gland dysfunction.  The body’s T cells refer to a classification of white blood cells responsible for fighting different forms of infections in the body. The T cells mature in the thymus glands. DiGeorge syndrome affects the thymus gland making it small or missing.  Therefore, a small or lack of thymus gland interferes with the body’s ability to make T cells, leaving the body defenseless against different diseases, thereby leading to rising infections (Klocperk et al. 2018).

DiGeorge syndrome is also associated with the cleft palate condition. The condition refers to an opening that emerges on the mouth’s upper roof. The cleft palate condition is associated with difficulties in producing certain sounds, thus interfering with speech. Also, the cleft palate interferes with the swallowing process due to the associated difficulties.  DiGeorge syndrome is also linked with distinct facial conditions among the affected.  The conditions may occur in diverse forms. For instance, a person may showcase a low set of ears or eyes with a short width. A nose tip that appears to be relatively long and a lengthy face is also some of the facial conditions associated with DiGeorge syndrome.

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Additionally, DiGeorge’s syndrome causes diverse development challenges in children. Hypocalcemia is rampant among such children during the neonatal stages. Children with DiGeorge syndrome tend to develop dental weaknesses after 12 months. The flexion/extension instability is also considered rampant in children with DiGeorge condition compared to others. Another set of conditions that openly emerge in people with DiGeorge syndrome is speech and language challenges that arise from late child developments. The late developments also see children develop diverse mental challenges such as autism and attention-deficit/hyperactivity disorder (ADHD).

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Diagnosis of DiGeorge syndrome requires critical evaluations of the symptoms and carrying out tests to ascertain the condition’s presence. The symptoms act as the first signs of proving that something is not right regarding an individual’s health condition.  Besides physical recognition, individuals can also assess themselves to determine the chances of their loved ones, for instance, children, having DiGeorge syndrome. The possibility of a child developing DiGeorge syndrome from parents who are negative for the condition is less than 1%.  The probability, however, increases to 50% for children whose one parent lacks 22q11.2. Even though an evaluation of the signs might point at DiGeorge syndrome, a conclusion is not made. DiGeorge syndrome is a genetic disorder. Therefore, carrying out genetic tests on chromosomes and their composition is the perfect approach to determine the existence of DiGeorge condition in patients (Morsheimer et al., 2017).

Treatment and Management of DiGeorge Syndrome (22q11 deletion) Study Guide

Awareness of the existence of different symptoms, therefore, influence the kind of tests that are conducted to determine the presence of DiGeorge syndrome. For instance, the differential diagnosis should be tested in children with a conotruncal cardiac defect. A negative test result indicates a lack of deletion in the affected area. Therefore, the results call for testing nearby (10p13-p14) untested regions (Kuo et al., 2018). Diverse test criteria are incorporated when testing for DiGeorge syndrome. For example, blood tests are used to determine the existence of the disorder associated with DiGeorge syndrome.  The chorionic villus sampling and amniocentesis tests are conducted in mothers during pregnancy to determine whether they have the disorder associated with DiGeorge syndrome. The tests also allow the medical staff to determine the severity of the child’s later life. A special test for diagnosing DiGeorge syndrome is also depicted in situations involving fertilized eggs in the laboratory before being implanted in the womb. A pre-implantation genetic diagnosis test is conducted on the embryo’s to determine the possibility of the DiGeorge syndrome. Other tests for the condition involve analyzing other body organs to determine the presence of risk factors associated with DiGeorge syndromes, such as hypocalcemia and immune function. Similarly, imaging tests are conducted to determine the presence of congenital disabilities that are associated with DiGeorge syndrome.

DiGeorge syndrome management relies on effective handling of the condition depending on the symptoms as they occur. The need for care arises because of the lack of a known cure to treat DiGeorge syndrome. It is imperative to monitor the conditions as they occur and offer the right treatment to manage the disease and its effects efficiently. The treatment management may involve routine tests to monitor the health progress of DiGeorge syndrome patients. The tests may include assessing blood samples, testing hearing capabilities, weight, and others. Likewise, children’s capabilities can be evaluated to determine the ideal support mechanisms available to them. Identifying the condition at an early age allows parents and medical practitioners to place the appropriate treatment for the children, for instance, admission into special schools. Another way to manage DiGeorge syndrome is by offering speech management therapies to handle people with the disorder experience. Physiotherapy treatment can also be offered to treat people with muscle strength issues that affect coordination and movements. Likewise, it is advocated that children with DiGeorge syndrome should be referred to podiatrists to assist them in their leg movements. The children may be given tools such as shoe inserts to help them walk properly or ease the pain that will ease the pain they undergo. Lastly, surgery is recommended as the last option to deal with DiGeorge syndrome complications.  Surgery may rectify severe conditions that may include heart complications and the cleft palate (McDonald-McGinn, & Sullivan, 2011).

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Conclusion

DiGeorge syndrome has been illustrated as a health complication from the microdeletion of chromosome 22. The deletion has been depicted to occur in the 22q11.2 middle region of the chromosome.  The condition has been highlighted as being prevalent in society. However, the challenge regarding the disease has been highlighted as lying in the difficulties to understand the condition despite its high prevalence. A myriad of symptoms has been illustrated to characterize the condition, with heart complications and facial disorders being the key signs of DiGeorge syndrome. The key cause of DiGeorge syndrome has been depicted to be the microdeletion of chromosome 22 in either the father’s sperm or mother’s egg. Inheritance of the deleted chromosome 22 has also been illustrated as a cause of the disease. DiGeorge syndrome has been associated with diverse complications such as heart problems, Hypoparathyroidism, cleft palate conditions, more infections, speech and learning challenges, and slow development. Diagnosing DiGeorge syndrome has been depicted to rely on evaluating the physical symptoms and carrying out genetic tests for verification of the condition. Currently, DiGeorge syndrome has been portrayed as lacking an identified treatment, thereby making effective management of the condition the ideal way to handle patients.

References

Digilio, M., Marino, B., Capolino, R., & Dallapiccola, B. (2005). Clinical manifestations of Deletion 22q11.2 syndrome (DiGeorge/Velo-Cardio-Facial syndrome). Images in paediatric cardiology, 7(2), 23–34.

Fomin, A. B., Pastorino, A. C., Kim, C. A., Pereira, C. A., Carneiro-Sampaio, M., & Abe-Jacob, C. M. (2010). DiGeorge Syndrome: a not so rare disease. Clinics (Sao Paulo, Brazil), 65(9), 865–869. https://doi.org/10.1590/s1807-59322010000900009

Kim, G., Moon, E., Park, J. M., Lee, B. D., Lee, Y. M., Jeong, H. J., & Suh, H. (2020). Various psychiatric manifestations in DiGeorge syndrome (22q11. 2 deletion syndrome): a case report. Clinical Psychopharmacology and Neuroscience, 18(3), 458-462.

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Klocperk, A., Paračková, Z., Bloomfield, M., Rataj, M., Pokorný, J., Unger, S., … & Šedivá, A. (2018). Follicular helper T cells in DiGeorge syndrome. Frontiers in immunology, 9, 1730.

Kraus, C., Vanicek, T., Weidenauer, A., Khanaqa, T., Stamenkovic, M., Lanzenberger, R., … & Kasper, S. (2018). DiGeorge syndrome. Wiener klinische Wochenschrift, 130(7-8), 283-287.

Kuo, C. Y., Signer, R., & Saitta, S. C. (2018). Immune and Genetic Features of the Chromosome 22q11. 2 Deletion (DiGeorge Syndrome). Current Allergy and asthma reports, 18(12), 75.

McDonald-McGinn, D. M., & Sullivan, K. E. (2011). Chromosome 22q11. 2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Medicine, 90(1), 1-18.

Morsheimer, M., Brown Whitehorn, T. F., Heimall, J., & Sullivan, K. E. (2017). The immune deficiency of chromosome 22q11. 2 deletion syndrome. American Journal of Medical Genetics Part A, 173(9), 2366-2372.

Sullivan, K. E. (2019). Chromosome 22q11. 2 deletion syndrome and DiGeorge syndrome. Immunological Reviews, 287(1), 186-201.

Woolman, P., Bearl, D. W., Soslow, J. H., Dodd, D. A., Thurm, C., Hall, M., … & Godown, J. (2019). Characteristics and outcomes of heart transplantation in DiGeorge syndrome. Pediatric cardiology, 40(4), 768-775.

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