Down Syndrome

INTRODUCTION

            As microorganisms multiply and human genes or chromosomes undergo evolutionary processes, it becomes eminent for the existence of human diseases and congenital disorders. Among these disorders, Down syndrome becomes eminent to impact families, which had posed challenges to the child care industries over the decades. These challenges had led institutions (ex. Stanford School of Medicine) of medical science to develop means to research this disorder as to create therapeutic treatment for the disorder (Salehi, 2013). In an effort to inform the audience regarding this disorder, this paper discusses Down syndrome, its causes, assessment, resources for early intervention, and how the learning and activities in the classroom environment can be modified to accommodate children with Down syndrome.

CAUSES OF DOWN SYNDROME

            In an effort to delineate on the causes of Down syndrome, it will be expedient to give a synoptic view of the disorder as it pertains to its historicity with respect to its discovery and existence. Down syndrome is named after a British physician, John Langdon Down, who described the syndrome in 1866. The condition was clinically described early by Jean Etienne Dominique Esquirol in 1838 and Edouard Seguin in 1844. It was identified as a chromosome 21 trisomy by Dr. Jerome Lejeune in 1959 (Arron & MM, p. 595-600). “It is a genetic disorder that produces moderate-to-severe mental retardation and multiple birth defects. The physical characteristics of a child with this disorder are a sloping forehead, flat nose or absent bridge to the nose, low-set eyes, and a generally dwarfed physical growth. This disorder occurs more commonly when the mother is over age 40” (Fremgen & Frucht, p.34).

            The cause of Down syndrome is the result of chromosomal abnormality resulting in mental retardation, retarded growth, and a flat face with a short nose, low-set ears, and slanted eyes (Chabner, 2007, p. 272). If a baby is born with an abnormal number of chromosomes, the

karyotype will show 47 chromosomes instead of the normal number of 46. The abnormality results in extra 21 chromosomes which results in the development of a child with Down syndrome. According to research, for every 600 births, there is a Down syndrome occurrence (Crowley, 2007, p. 182).

            Crowley outlines and describes the episodes which occur phenomenally to impart the causes of the disorder during gamatogenesis. They include nondisjunction during gamatogenesis leading to the formation of an abnormal gamete containing an extra chromosome 21, an extra chromosome 21 acquired as part of a translocation chromosome, and nondisjunction occurring in the zygote (183).

ASSESSMENTS USED TO DETERMINE DOWN SYNDROME

            As technology in medical advances increased and improved over the decades, medical facilities had developed a test to have every pregnant woman or child to be born especially in developed countries to have the pregnant woman or the child already born examined as to find out any congenital disorders for early intervention and possible treatment. Among the congenital disorders diagnosed during the test is Down syndrome. There are specific tests performed for each congenital disorder. The test performed to determine the probability of Down syndrome during pregnancy is called amniocentesis. Amniocentesis is a procedure performed in medical facilities during pregnancy in which an amniotic fluid is withdrawn from a woman’s uterus to test for certain problems in the fetus. According to Chabner, “Chromosomes within the nucleus are analyzed in terms of their size, arrangement, and number by determining a karyotype. Karyotyping of chromosomes determines whether the chromosomes are normal in number and

structure. Amniocentesis is then recommended by an Obstetrician for a pregnant woman so that the karyotype of the baby can be examined” (35).

            The dark side of the test is that even though the doctor will find out the probability of the presence of the Down syndrome, they do not have a solution to stop it. In 2007, my wife was tested at Carolina Medical Hospital when she was pregnant with my son. After the blood test, it was determined that she was at risk to bear a Down syndrome child; as the result, the doctor decided to recommend amniocentesis. We were called to have this test discussed and what effects the procedure has on the baby when the fluid is being withdrawn. According to the procedure, it is possible that the fetus could be harmed in the process if the test was not properly done. We had no alternative but to refuse the test.

COMMUNITY RESOURCES

            Community resources are provisions made to serve individuals and families whose lives are being impacted by traumatic events at domicile, institutions, or in their community. To reach goals to serve the victimized individuals in realistic situations, community agencies are created under non-profitable organizations to serve targeted populations based on each agency’s mission to serve humanity. In conjunction to this research paper as it relates to community resources, I have chosen one of the community agencies in Charlotte whose mission is to minister to children and families whose lives are being impacted by Down syndrome. This agency by nomenclature is “The Down Syndrome Association of Charlotte” whose goal is to enable individuals with Down Syndrome to reach their full potential and become respected members of their communities. This agency has been serving children and families since 1986. This agency has community partners which serve with this organization to minister applicable services to children and families impacted by this disorder. They include the Down Syndrome Clinic at Carolina’s Medical Center, Exceptional Children’s Assistance Center, and The Arc of Mecklenburg (Kingsley, 1986, p. 7). These are partners which help this agency in achieving its goal to reach families within Charlotte region. Services offered by this agency include the following:

  1. Buddy Walk was established in 1995 to promote acceptance and inclusion of children with Down syndrome.
  2. Camp Horizon is the three-day overnight camp for children with Down syndrome ages 10-17. This program provides special and safe place where children discover a renewed sense of self-confidence, develop friendships, enjoy the beauty of nature and have fun and memorable experience (Kingsley, 1986, P. 7).

Besides the above services, there are multiple services offered by Down Syndrome Association of Charlotte which are not discussed in this paper. Services such as speech therapy and exercises are offered to help children who have impairment in speech and physical development.

      One of the questions one could ask regarding Down syndrome is, is there a treatment for this disorder? Because research indicates that intensive therapies are often enormously helpful to children with Down syndrome, treatment usually involves individualized recommendations for behavioral, education, and medical therapies for the child according to “A Parent’s Guide to Special Education” (85). This article which is the joint publication of the Federation for Children with Special Needs and Massachusetts Department of Education delineates how these services are offered.

MODIFICATIONS FOR INCLUSION

            Inclusion is the practice in which children with special needs are included with children without special needs. According to study, inclusion helps children with special needs to improve significantly in their areas of disorder across a broad spectrum. This article states,

            “A study was done in 1999 which compared children with Down syndrome who were placed in the mainstream classroom improved significantly in literacy skills for mainstreamed students better than students removed to a special education setting. It was also discovered that negative behavior patterns were lower for mainstreamed students.” (Stannard, 2011).

            As teacher of early childhood professional, including children with Down syndrome in the classroom requires one to develop programs which intervene in various developmental spectra of domains. The domains such as the physical, cognitive, speech, and the emotional should be taking into account. In the area of physical development, teacher should design activities to improve or to refine the gross motor skills, incorporate social aspects such as games, modify playground equipment, refine fine motor skills, and exhibit direct teaching activities in the classroom. In the area of cognitive development, teachers are required to divide tasks into small steps, make repetitions and practice a habit, give affirmation or praise to reinforce in other areas of development, and encourage independence. In the area of speech or communication, teachers are required to encourage verbal speech, sign language, vocabulary buildings, utilize picture systems, encourage reading, and take note of hearing loss taking the individual child into consideration based on variations. In the area of emotional, teachers are required to evaluate what kind of skills the individual child will need by being involved in direct teaching because the social, physical, and cognitive developments may interfere with the child’s learning abilities during the learning process. Such downsides which include low stamina, unawareness and disinterests in peers may be eminent.

SUMMATION

            In conclusion, this research paper has discussed Down syndrome, its causes, assessment, community resources needed to help families, and how the learning and the classroom environment can be modified to accommodate children with Down syndrome.

References:

Arron, JR; Winslow, MM; Polleri A (2006). “NFAT dysregulation by increased dosage of DSCR1 and DYRK1A on chromosome 21”. Nature 441, p. 595-600.

Chabner, Davi-Ellen (2007). The Language of Medicine, 8th Ed. St. Louis: Saunders Elsevier.

Crowley, Leonard V, M.D (2007). An Introduction to Human Disease: Pathology and Pathophysiology Correlations, 7th Ed. Mississauga: Jones and Barlett Publishers.

Fremgen, Bonnie F & Frucht, Suzanne S (2005). Medical Terminology: Living Language, 3rd Ed. New Jersey: Pearson Education, Inc., Upper Saddle River.

Kingsley, Emily Perl (1986). The Down Syndrome Association of Charlotte: New Parent’s Handbook, p. 7, 85.

Sandall, Susan (2009). Including and Teaching Children with Down Syndrome in Head Start Classrooms, p. 1-34.Stannard, Elizabeth (2011). Teacher Tips for Including Students with D