Genetics play a vital role in our development and that of our children. Our genetic make-up, or traits, directly affects our children’s development, from the moment of conception and the beginnings of a new person, throughout his or her life. The child’s developmental fate is all in the deoxyribonucleic acid, (DNA). Deoxyribonucleic acid, is fashioned in the shape of a double helix; a twisted ladder of genetic code, which along with various proteins, which are essential to aid the DNA in proper cell division, are found in chromosomes. These are the microscopic structures that contain all an individual’s genetic information which are found in every cell of the human body except red blood cells, which have no nuclei (TGC, 2013). Half our chromosomes (23) come from our father, and the other half from our mother, for a total of 46.
Together, this set of 23 pairs of chromosomes is responsible for giving us our hair color, eye color, height, the shape of our earlobes, our facial features, our shape, and the color of our skin; our genotype, or inherited traits from both parents’ genes (Mossler, 2011). Child development is dependent on genetics and the compatibility and health of the combined parental sets of chromosomes (GSLC, n.d). Things can go wrong, and parts of essential chromosomes may be deformed, rearranged, abnormal or missing; this can wreak havoc on the well-being of the developing fetus, resulting in deformities, mental retardation, and birth defects (GTC, 2013, para.1, sub sect. 2). Risk factors for a higher incidence of these chromosomal abnormalities include maternal age, and sometimes paternal age, and/or they may be due to a glitch in meiosis; the process where gametes or sex cells are formed; the egg (ovum), and the sperm, each containing 23 chromosomes (GSLC, n.d).
Genetic counselors talk to couples before conception or during their pregnancy, regarding any worries they may have with their combined family genetic history. The counselor is consulted to assess the outcomes of possible genetic disorders such as Tay-Sachs, Cystic Fibrosis, Down syndrome, and many others. Fetal intervention may be a distinct possibility for some inherited diseases with which a genetic counselor may assist couples. Down syndrome is one of the most common chromosome abnormalities, which is recognized by a duplicate copy of chromosome 21. Babies with Down syndrome have flat features, including extra skin behind their necks, short, stubby hands, and recessed chins. Their eyes look as if they were born of Mongolian heritage, and Down syndrome was formerly known as Mongolism in the pre-1965 era, due to this exact feature, even though it has nothing whatsoever to do with this particular syndrome.
The term “Mongolism” was dropped in 1965 by the World Health Organization (WHO), (Lowe, 1949). Maternal age is relevant when it comes to an elevated risk of Down syndrome; according to a study, 1/350 normal live births born to mothers age 35 resulted in Down syndrome; whereas, one Down syndrome birth in 85 normal live births occurred when the maternal age was 41. Mothers over 45 years of age, had a 1/25 chance of giving live birth to a baby with Down syndrome (Hook, 1983). Oddly enough, 80 percent of Down syndrome occurs at a maternal age of less than 35 (TGC, 2013, para.1, sub sect. 2). Child development of the child with Down syndrome is held on a parallel with normal children; however, the child with Down syndrome may achieve with less competence than that of his normal classroom counterpart. Evidence reveals that children with Down syndrome benefit from integration and interaction with others in a normal school environment. In particular, they show significant gains in spoken language, reading, writing and arithmetic.
This enhances their ability at a later stage to successfully interact with adults and become productive members of society (Buckley & Sachs, 2001). When I had my youngest child at almost 42 years-old, I had amniocentesis to test for Down syndrome and other abnormalities, as I was an older mother. My obstetrician believed I may be carrying twins; however, he came to the conclusion that my single baby absorbed his twin in utero, which today is quite commonplace. “Cystic Fibrosis is the most common genetic disease in Caucasians. The incidence is 1/300, and 4 – 5 percent of Americans are carriers.
Chromosome 7 is the one affected here, whereby it is caused by a change in a single nucleotide (a phosphoric ester of a nucleoside; the basic structural unit of nucleic acids, DNA or ribonucleic acid (RNA). This disease affects the respiratory tract, in that it becomes clogged by mucus, which increases the incidence of pulmonary infection. Additionally, secretions obstruct the pancreas, which leads to dietary problems (GSLC, n.d).” Cystic Fibrosis or “55 Roses” as it is commonly called by children suffering from the disease, affects child development by posing cognitive, emotional and behavioral challenges. To conclude, in writing this paper I have developed a better understanding regarding the world of genetics and chromosomal diseases and their effect on child development.
Children and their individual development through the various stages of these chromosomal diseases and disorders pose many challenges for them to overcome, and are more often than not, life-changing events for their families. Life expectancy for CF sufferers is not longevity; however, the quality of their limited lifestyles should be paramount within their family’s goals to make their child’s life on Earth as pleasant a time as possible. Down syndrome, however, although outwardly obvious to the perfect stranger, is nevertheless one of the milder forms of chromosomal diseases that can be worked through, albeit a challenge, to transform the sufferer into a fully functioning productive member of society.
Buckley S.J., Sacks B., (2001) An overview of the development of children with Down syndrome (5-11 years). Down syndrome Issues and Information. Retrieved February 12, 2013, from: http://www.down-
Ernst, M.M., Johnson, M.C., Stark, L.J., (2010). Developmental and psychosocial issues in cystic fibrosis. Retrieved February 12,
2013, from: http://www.ncbi.nlm.nih.gov/pubmed/20478499
GSLC, (n.d). Genetics and child development. Retrieved February 12, 2013, from: http://gslc.genetics.utah.edu/units/disorders/karyotype/
Hook, E. B., (1983). Frequency of Down syndrome per maternal age. Jama 249:2034- 2038. Retrieved February 12, 2013, from: http://www.ds-health.com/risk.htm Lowe, R. F., (1949) The eyes in mongolism. Br J Ophthalmol. Retrieved February 12, 2013, from: Mar;33(3):131–174, http://www.ncbi.nlm.nih.gov/pmc/articles/PMC505809/ Mossler R. A., (2011) Child and Adolescent Development San Diego, CA. Bridgepoint Edu
TGC, (2013). Genetics and chromosome analysis. Retrieved February 12, 2013, from: http://www.thegeneticscenter.com/chroman.htm
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