Deletion syndrome: case study - Essay Example

Deletion syndrome: case study Background 22 q 11. 2 deletion syndrome results from when a piece of chromosome 22 is erased. The deletion takes placenear the center of the chromosome at a specific location designated 22 q 11. 2. The syndrome has several presentations. These include: Di George syndrome, Di George anomaly, shprintzen syndrome, velocardiofacial syndrome, conoctruncal anomaly face syndrome, congenital thymic aplasia, strong syndrome and thymic hypoplasia (Heymann 2010). The inheritance pattern is autosomal dominant and has prevalence estimated at 1: 4000. The syndrome was described in 1968 by Angelo Di George who was a pediatric endocrinologist. The mechanism causing all the associated features of the syndrome is not known (Nass and Frank 2010). The syndrome may involve migration defects of neural-crest derived tissues, and in particular the development of third and fourth branchial pouches is hindered (Chessa and Giamberti 2012). The thymus gland is also affected. There is no known cure for 22q11.2 deletion syndrome. The only possible way of managing the defect is using standard treatments to treat certain individual features. Therefore, identifying each of the associated features is of utmost importance. Then, the features should be managed using the best available treatments. In small children, it is necessary to identify the immune problems as early as possible (Cassidy and Allanson 2011). Children with the syndrome have a certain profile in neuropsychological tests. Usually, they have a below-borderline normal IQ (Harris 2005). Some may be able to attend normal schools, while others are home schooled ar in special classes. In the case of Mr. M, he did not join a normal school. Rather, his parents considered home schooling. Current research demonstrates that speech and language impairments are associated with the syndrome (Toriello and Smith 2013). The children perform poorly on the speech and language evaluations in comparison to their nonverbal IQ scores (Aminoff 2008). Brief history The patient I chose for this case study is a thirteen year old boy, who I will call Mr. M. He was born with the appropriate weight and in a good measure of health. However, He had a cleft lip and palate. The defect was later corrected through surgery. His lip and palate were back in shape though the scars that were left on them showed clearly that M had undergone surgery. M looked just like a normal baby. However, as time went by, his feeding habits proved to be very poor. His rate of growth was also slow. He had a frail body compared to the other babies. Time flowed as usual but for baby M, time was always ahead. It took so long for him to learn how to walk. Also, his first words “mama” and “daddy” came out so late in his life. When he started speaking, he would not utter almost all the words correctly. Nonetheless, it was crystal clear that M had a problem. Case presentation The depth of M’s problem was not known. The medical practitioners in the hospital performed some tests on the boy and found no cardiovascular anomalies. At three years of age, M was still having some speech problems and an additional problem in hearing was coming up. He was also disposed to catching colds, suggesting immunodeficiency due to thymic hypoplasia. M also had seizure attacks. Her siblings and parents were alive and in good health and no other relatives or members of the family were clinically affected. The patient had been unpredictably irritated and emotionally labile. At the age of 6, he suffered from auditory hallucinations. His family was troubled by the unpredictable agitation and behavioral changes associated with delusions. At the time of this report, the patient had persistent emotional lability and unpredicted agitation. The patient’s height was 70 cm and his weight is 38 kg. He had the following features of cranial facial anomalies: swollen eyelids, nose with bulbous nasal tip, a low anterior hairline, hypoplastic nasal alae and a square flat nasal root, a small mouth and thin upper lip. His voice was hypermasal, and he had cavities due to enamel hypoplasia. No anomaly was found on the neurological examination. After conducting laboratory examinations the results revealed hypocalcaemia (8.1 mg/dl in serum) and thrombocytopenia (7.2×104 μl−1, normal range 13–35×104 μl−1). His intact parathyroid hormone level was within the required limits but a bit low (27 pg/ml, normal range 10-65 pg/ml). This acts as an indicator that the secretion of PTH from the parathyroid was inadequate despite his hypocalcemia. His immunodeficiency spectrum is caused by the absence of T cells due to thymic aplasia to the normal numbers. The numbers of CD8+ and CD4+ T lymphocytes were within the normal range. Brain CT indicates bilateral basal ganglia calcification thus suggesting deposition of calcium related hypocalcemia. Other test also showed that M had laryngeal web 98% occlusion. M could not go to school like a normal child. He had to be homeschooled because of difficulties in learning. His IQ was very low. More often than not, Mr. M would have seizure attacks. The condition of his trachea then worsened and many surgeries were performed to correct the situation. Currently, M is admitted to hospital and his condition is being monitored and managed. In the last week, M underwent the tracheal suction procedure and has a Montgomery t-tube. He is also having the congenital heart disease, hypocalcemia and airway malacia. According to the findings, we diagnosed the patient as having 22q11.2 deletion syndrome. How the factors specific to the individual affect the physical health On the basis of the clinical symptoms, the patient was diagnosed as having 22q11.2 deletion syndrome. Several phenotypes of the disorder were presented. The syndrome is usually suspected when the congenital cardiovascular anomalies alongside other phenotypes in early life. Even though the clinical data indicated cranial facial anomalies and cleft palate, the clinicians could not come up with a diagnosis of the syndrome based on these symptoms only. It is reported that there are no differences in the main phenotypes between individuals who are carriers of the syndrome and those who are not carriers, especially when they both suffer from schizophrenia. The psychiatric course for the patients with the syndrome is unremarkable. Nonetheless, temper outbursts and aggression have been observed in Caucasian patients with the syndrome and symptoms similar to those of schizophrenia. Several distinct cases have been seen in the world and three of these are in japan. Common phenotypes of the cases were in the absence of congenital cardiovascular abnormalities and the presence of low intellectual ability IQ, hypocalcemia and agitation. The clinical features that may promote a medical practitioner to diagnose the deletion syndrome may vary depending on the age of patients. The lack of classic findings like congenital cardiovascular anomalies may cause the clinicians to miss important diagnostic clues for 22q11.2 deletion syndrome in early life. The identification of the syndrome, mostly in adolescents and adults, may call for more careful assessments of their phenotypes beside the congenital cardiovascular anomalies. Intellectual disabilities are also very common in such cases. However, low IQ is a very well-known phenotype in patients with the deletion syndrome and those with schizophrenia. This acts as an indicator that it is very difficult to distinguish patients with the deletion syndrome from those with schizophrenia. Both hypocalcaemia and agitation may prompt the suspicion of 22q11.2 deletion syndrome. In the case at hand, the patient experienced seizure due to physical stress that resulted in the worsening of hypocalcaemia. Moreover, emotional labiality in this case may result from hypocalcaemia. I therefore suggest that a serum calcium assessment should be added to the routine examination of the patient. Meaning of bio-psycho-social term and applications in holistic care The term bio-psycho-social is a general approach that states that biological, psychological and social factors are significant in functioning of humans in the context of disease or illness. The bio psychosocial model of health is based on social cognitive theory. The model suggests the treatment of certain diseases and syndromes processes do require the health care team to address the social, biological and psychological influnces. It is very necessary to monitor the various physiologic parameters for the purposes of acquiring valuable tools for management of a patient like Mr. M. the monitoring can be done by the use of bio physiological methods. The method uses biological indicators to organize the data being sought in the research activity (Boswell and Cannon 2014). The researcher views the bio physiological measures as objective data. The method can be used alone and it is also possible to combine it with other methods. The effectiveness of the outcome measurements is affected by the accuracy and consistency of the data collection processes, timing of data collection and the ability and commitment of those collecting the data and making decisions on the findings (Fitzpatrick and Kazer 2011). It is not recommended for the researcher to select the strongest data collection methods possible; rather, he is encouraged to select the optimal strategies for getting the data need to provide the appropriate justification for each of those decisions. In the case of Mr. M, the collection of bio physiological data is very essential. The data that was collected since his childhood has been kept in records. Following up on these records, the medical practitioners have tried the best strategies of managing the condition. Reflection In Mr. M’s case, the clinical records show that the diagnosis of the 22q11.2 deletion syndrome was done very late in his life. Suspecting the disease could be difficult because of the existence of common signs and symptoms in the syndrome and other diseases like schizophrenia. Also, the late development of congenital cardiovascular anomalies may have led to the late discovery of the disease. Another reason for this could be ignorance on the parents’ side. A study of the genetics showed that the father was a carrier. If the parents would have gone for genetic counseling, they would be expecting such a case and maybe it would have been managed in a better way. I would not place blame on the doctors because I think maybe there were not enough equipment to assist in the diagnosis of the disease. If such a case were to be managed differently and in a better way, it is my belief that the result would be cost effective and excellent. According to these findings, I would like to formulate a set of recommendations. Summary of how the future practices could be affected Genetic counseling The counseling for 22q11.2 deletion syndrome includes a critical discussion on the etiology, prevalence, detection, interventions and preconception options (Allen, et al. 2013). Some of the affected adults, mostly those detected via their more severely affected child, have been found to have the syndrome despite the minimal findings. Moreover, there are reports of somatic mosaicism. Therefore, despite the fact that the clinical features may be absent, parental studies are always warranted to provide appropriate recurrence risk counseling (Walker, et al. 2006). The occurrence of germ line mosaicism leads to a small recurrence risk for the parents with the deletion. On rare cases, patients have both the 22q11.2 deletion syndrome alongside other confounding diagnosis like familial single gene disorder and other cytogenetic abnormalities. This complicates the assessment of the features attributed to the deletion syndrome. Rarely, the deletion occurs due to unbalanced chromosome translocation, and this may influence the risk of recurrence. The provider may therefore exclude the rearrangement before providing counseling (McNeil 2009). Regardless of sex, the affected individuals have a 50% chance of getting an affected child in each pregnancy. The variability of the syndrome makes it very impossible for one to predict the severity and range of manifestations in the offspring. For such patients, the prenatal diagnostic options include: fetal echocardiography and ultrasound scanning. This is usually non-invasive but can only detect some of the congenital anomalies associated with 22q11.2 deletion syndrome. Other tests are via chorionic villus sampling and amniocentesis. Preconception may include donor gametes with or without confirmatory prenatal testing or preimplantation genetic diagnosis utilizing in vitro fertilization (Ochs, Smith and Puck 2013). Counseling entails updated information on the commonly found conditions. Additionally, information about local resources, management strategies and support should be provided to the patients, their clinicians and their families (Hansen and Rogers 2013). The counseling would be repeated in each life stage, with the updated information about the 22q11.2 deletion syndrome provided and the questions answered. This is very important especially during transition to adolescence and adulthood when the issues of reproduction and treatable late onset conditions like psychiatric illness become the prominent features (Mazzocco and Ross 2007). Treatment in future practices More research is necessary for the improvement of the management strategies for the 22q11.2 deletion disorder. Detecting the defects early could give the children a longer life span. In the future, engineers need to come up with equipment that will help in early diagnosis. The machinery needs to be very accurate since the syndrome can be easily confused with other defects. Genetic engineers too need to come up with a way that can help to curb such cases (Sachdev and Keshavan 2010). Conclusion In Mr. M’s case, it is noted that he was born with the 22q11.2 deletion syndrome. However, the defect was discovered very late in his life. Though he showed the signs and symptoms earlier, the main signs that led to the diagnosis developed later in life. One the sign is the congenital heart disease. M has gone through many different procedures including the tracheal suction for the purposes of clearing the wing pipe due to the presence of laryngeal web. In summary, the study that I have done gives the guidelines that present the best practice recommendations currently available. I have also shed light on the weakness of methodology and how these can be improved in the future. However, this information and guidelines will need to be updated as new information becomes available. References Allen, Hugh D, David J Driscoll, Robert E Shaddy, and Timothy F Feltes. Moss & Adams' Heart Disease in Infants, Children, and Adolescents: Including the Fetus and Young Adult. Philadelphia: Lippincott Williams & Wilkins, 2013. Aminoff, Michael Jeffrey. 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