Introduction
Down syndrome is an atypical chromosomal condition. The main cause of this abnormal condition is Trisomy-21, a genetic error, where every cell in the individual’s body consists of three chromosome 21 facsimiles. The presence of additional chromosome 21 replicas results in the individual’s abnormal physical development and the related cerebral disability resulting in leukemia, cardiac issues, and distinguishing physical characteristics (Lana-Elola, Watson-Scales, Fisher, & Tybulewicz, 2011). Although, it is not possible to cure Down syndrome, the availability of various treatment options make it possible for the parents and healthcare providers to handle the patient with effectiveness.
Etiology and Risk Factors
In general, Down syndrome is caused due to nondisjunction where a chromosome pair is unsuccessful to separate during the formation of egg (or sperm). After this particular egg manages to bond with a normal sperm for embryo formation, instead of 2 copies of chromosome 21 copies, the embryo gets three copies (Huether & McCance, 2015). One of the principal factors contributing to a higher risk for Down syndrome in a child is maternal age. There is a minor likelihood of having a child with Down syndrome when women are less than 30 years of age. On the other hand, women more than 45 years of age are less likely to have infants with Down syndrome (Huether & McCance, 2015). Thus, the significant increase of having Down syndrome is attributable to “the age of maternal egg cells, which are held in an arrested state of prophase I from the time they are formed in the female embryo until they are shed in ovulation” (Huether & McCance, 2015). In addition, a female with one Down syndrome child has a probability of 1/100 to have another baby with the same condition. Moreover, both males and females carrying the genetic translocation for this condition can pass it on to their kids (Huether & McCance, 2015).
Pathophysiological Processes
The physiologic functioning in Down syndrome patients is rather abnormal. As a consequence, it results in conditions such as intestinal malabsorption, Simian crease, Hirschsprung’s disease, poor immune responsiveness, duodenal atresia, obesity, and affected thyroid metabolism. In addition, patients also demonstrate “developmental delay due to hypotonia and decreased cognitive processing” (Breedlove, 2006). Moreover, the patients demonstrate generally a 20 to 70 IQ range. The mortality rate is rather overwhelming as approximately seventy-six percent of fetuses affected with this condition are either stillborn or aborted. Unfortunately, almost twenty percent of children with Down syndrome breathe their last breath before they reach 10 years of age (Huether & McCance, 2015). However, 49 years is the mean life expectancy (Breedlove, 2006).
Clinical Manifestations and Complications
There are a number of clinical manifestations exhibited at diverse life phases of Down syndrome patients. In children, these include brachycephaly (small-sized head), micrognathia (small-sized jaw), obtruding tongue, epicanthal folds, low nasal bridge, and poor muscle tone (Lana-Elola, Watson-Scales, Fisher, & Tybulewicz, 2011). On the other hand, mental incapability and underdeveloped physical characteristics are most commonly noticeable in adults with Down syndrome (Huether & McCance, 2015).
Neurodegeneration is the major factor behind the occurrence of the mentioned clinical presentations. Additionally, impulsive behavior, problems in communication, learning issues, and cognition impairment are also some complications that challenge individuals with Down syndrome. As far as complications associated with Down syndrome are concerned, death may also occur in case of inadequate treatment and insufficient medication. Furthermore, patients with less severity may experience Diabetes Mellitus, acute and chronic infections, thyroid disorders, senile dementia (premature), and Strabismus and cataracts (Breedlove, 2006).
Diagnostics and Treatment Options
A number of diagnostic tests as well as screening tests are suggested by physicians for the diagnosis of Down syndrome. Chorionic Villus Sampling (CVS) or Amniocentesis is useful in diagnosing the prenatal scenarios. Chromosome mapping, also known as Karyotype Analysis, is a method used for the confirmation of diagnosis by showing abnormalities in the chromosomes. Similarly, retardation severity and progression is indicated with the conduct of Developmental Screening Test (Breedlove, 2006).
It is important to note that Down syndrome has still no prevention. Therefore, the only thing needed by Down syndrome patients is the affection, care, and love of their family members. Similarly, the healthcare providers are required to meet the physical (health-related) and emotional needs of the patients. It is worth-mentioning that various treatment options are available for handling the psychological and corporal concerns of the patients. For instance, recurrent infections can be treated with the usage of antibiotics. Similarly, congenital abnormalities can be corrected with surgery. Also, distinguishing facial features can be corrected with plastic surgery (Breedlove, 2006). A Down syndrome patient can be taught social, behavioral, communication, and learning skills with the utilization of such treatment options. For the maximization of physical and mental capabilities, supportive therapies and early intervention programs are available. For the treatment of hypothyroidism in Down syndrome patients, replacement of thyroid hormone is usually recommended (Breedlove, 2006).
References
Breedlove, R. (2006). Straight A's in pathophysiology. Philadelphia: Lippincott Williams & Wilkins.
Heuther, S. E., & McCance, K. L. (2015). Understanding Pathophysiology (7th ed.). Elsevier.
Lana-Elola, E., Watson-Scales, S. D., Fisher, E. M., & Tybulewicz, V. L. (2011). Down syndrome: Searching for the genetic culprits. Disease Models & Mechanisms, 4(5), 586- 595. doi:10.1242/dmm.008078
