Angelman Syndrome: The Miracle Of Life

The miracle of life is a never-ending interest of study and very difficult to grasp. The complexity of how our DNA is inherited, duplicated, mutated, and expressed varies in uncountable ways. Leon and Diane Rosenberg (2012) state that gene expression can be modified by changes in DNA structure or chemical modification of DNA, which in turn alters the fundamental function of a gene (p.97). Although humans are almost 100% alike we are so different from one another. Genes depict our looks, eye color, height, temperament, and even blood pressure inherited from our parents. During reproduction 23 pairs of chromosomes are inherited by our parents, which make up our DNA. Some of these unpredictable changes are called mutations. Mutations can occur
Harry Angelman first described the genetic condition Angelman syndrome in 1965. Dr. Angelman coined AS characteristics as “Happy Puppet Syndrome” from a painting he saw while visiting Italy that reminded him of his patients with AS. Due to the complexity of Angelman syndrome (AS) and its genetic components, geneticists have found similarities and slight variations on how AS is expressed on each affected individual. AS characteristics are first most commonly seen at around 6mo to 12mo because many developmental milestones are not met. For example, a baby that is 12mo of age should be able to hold their head up and crawl. Another concern is a child’s sleeping pattern. Children with AS have difficulty sleeping and need less sleep than normal. Lack of meeting these milestones, sleep disturbances, in addition to excessive smiling and excitement can be a base for clinical findings that match those with Angelman syndrome. The Genetics Home Reference (2016) interprets AS distinct features of this condition include mental disability, severe developmental delay, jerky movements, lack of muscle control and balance, spaced out teeth, microcephaly, epilepsy, speech impairment, seizures, and frequent laughter and smiling. Most children with AS have an unusual happy attitude and flap their hands with excitement (p.2). You can also find that children with AS have a fascination with water. Most children with AS are mobile by the age 2.5 to 6yrs of age but some
All four genetic diagnoses affect gene UBE3A on chromosome #15. In order to provide proper treatment and therapeutic care for individual with AS, proper diagnosis must be confirmed by using some the genetic diagnostic tools that are offered. A child expressing core clinical findings that suggest the diagnosis of Angelman syndrome can be confirmed with testing that involves analysis of DNA. These tests can provide laboratory results that indicate whether Angelman syndrome is caused by a deletion, uniparental disomy, imprinting deficit or UBE3A mutation. An important and accurate test such as methylation analysis can confirm 70-80% of all cases of AS. According to Robertson (2015), “DNA methylation is vital to a number of cellular processes such as embryonic development, X-chromosome inactivation, genomic imprinting, gene suppression, carcinogenesis and chromosome stability” (p.2). Methylation analysis evaluates the status of a gene, and it tests whether a gene is expressed or not expressed. A positive laboratory result of a methylation test could mean a gene is inactivated which is dictated by epigenetics. Epigenetics controls gene function and it is responsible for the deficient expression of a gene or in other words, turning a gene to the “on” or “off” position. In the case of Angelman