Developmental Disability, Williams Syndrome - Essay Example

Dеvеlорmеntаl disability - Williams Syndrome Name Institution Date Introduction Many diseases related to genetics have been diagnosed through the development of science and technology (Merla et al., 2010). Some genetic diseases are transmitted while other are acquired through genetic manipulation as one grows. Genetic manipulation can be triggered by environmental factors that include radioactive like the case in Japan. It has been established that genetic disorders mainly affects patient’s growth and development (World Health Organization, 2002). An example is the William syndrome, a developmental disorder linked to genetics (Mervis & Becerra, 2007). Together with several colleagues discovered, studied and explained the William syndrome was William in early 1960’s. The genetic disorder in individuals makes them exhibit a percentage of intellectual disability and difficulties in acquiring knowledge or skills. According to Mervis and Becerra (2007), the William syndrome drives patients to portray deficiency when it comes to cognitive capabilities. Patients often suffer from reduced time spell of verbal memory, language and significant deficiencies in visuospatial reasoning. Other aspects of development significantly affected include early language acquisition, early speech production, perception, vocabulary recognition, communication skill development (Pober, 2010). The William syndrome disorder affects various systems in a human body. Initially, it had alleged that Vitamin D teratogenicity was the main cause of William syndrome. The allegations based on researches that relied on supralvular aortic abnormalities and craniofacial abnormalities in rabbits. Evidence later proved that the genetic disorder resulted from parent to child transmission. The DNA test for patients with William syndrome lacked the ELN allele. The common clinical features associated with William syndrome include cardiovascular abnormalities (Merla et al, 2010). William identified two types in which the William syndrome occur. The William syndrome can occur as either a deletion syndrome or a duplication syndrome. Body Structure and Function; The William syndrome has several effects on the body structure and function (Mervis and Becerra, 2007). William described the syndrome and its symptoms in two different categories that included the deletion syndrome and the duplication syndrome. The deletion syndrome has distinctive phenotypic facial characteristics that include; a broad forehead, wide mouth, folds of the epicantal, periorbital fullness, full lips, small jaws and full cheeks. The phenotypic characteristic is also varied among the blue and green-eyed individuals. Children with William Syndrome suffer from dental caries that are more serious. Besides, the dental alignment is characterized by large spaces between teeth, small, slender teeth root, stones on teeth pulp, oligodontia and microdontia. For patients with duplication syndrome, the facial phenotypic characteristics include a broad forehead, high broad nose, short philtrum, thin lips, neatly placed and straight eyebrows. The features mentioned are medically referred to as dysmorphic features. Duplication syndrome makes the phenotypic characteristics mild and non-specific (Merla et al, 2010). As stated before, there are various systems affected by the William syndrome. Various body parts are affected. William syndrome is characterized by deletion of elastin gene that affects the cardiovascular. Cardiovascular complications are common among victims of William disorder that affect the pulmonary vessels and the large arteries. The large arteries and the cerebral arteries are narrow threatening the occurrence of strokes. The cardiovascular complications make the persons with William syndrome stand high chances of cardiac arrest and cardiac deaths. Individuals with deletion syndrome only express the mentioned cardiovascular complication. On the other hand, individuals with duplication syndrome experience a cardiovascular disorder known as a congenital heart defect. According to Merla et al. (2010), another system affected in individuals with the William syndrome is the endocrine. Complications such as hypercalcaemia are a common trait among infants with William syndrome. The hypercalcaemia complications affect the infants’ capacity to feed well, increase vomiting and constipation (Mervis & Becerra, 2007). It has also been established that the William syndrome can cause serious cramps among infants. At the infancy stages, William syndrome demands that victims take foods with a low concentration of Vitamin D and calcium. The diet is restricted since hypercalcaemia is a condition of high calcium concentration in the body (Pober, 2010). William syndrome induces a slow growth rate among affected infants. However, it is important to differentiate the effects of the two types of William syndrome. The deletion syndrome retards growth among patients while the individuals with duplication syndrome express normal growth. Also, hypercalcemia is only a condition in the deletion syndrome. The duplication syndrome manifests as normalcemia. Activities and Limitations in Activities William syndrome affects an individual in various ways with effects of the deletion and the duplication syndrome varying (Pober, 2010). The William syndrome affects different systems in the human body and that definitely has a negative impact on the social and physical life of an individual. William syndrome has effects on how individuals behave. For instance, the deletion syndrome exhibits powerful cognitive and personality traits with specific areas of strength and weakness. The cognitive state in deletion can be described as a mental retardation that expresses as mild –moderate. The visuospatial cognition is almost impaired. The intellectual quotient score among individuals with William syndrome does not score below 1%. Individuals with William syndrome often have a problem with starting to communicate since they experience significant delays in early language learning. In deletion syndrome, the delay occurs but after a William syndrome infected child learns a language, development of the language is more rapid. The slow trend in language learning and development continues for persons with duplication syndrome. Children with William syndrome have instances in which they perform better than normal children who not infected by the syndrome (Merla et al., 2010). Various research findings suggest that individuals with William syndrome rarely forgot names. William syndrome enables individuals to score high in auditory and verbal tests than in visuospatial construction. Persons with the syndrome are better placed to solve problems using social perception rather than using social cognitive process. William syndrome increases the capacity of affected individuals to perform better in reading activities among children. William syndrome has been established to make individuals more friendly and more specifically towards strangers. Some researchers have described the unique overfriendly trait as a cocktail party personality. The cocktail party personality trait in children increases susceptibility to exploitation and manipulation. Such children have a tendency to express over-excitement or anxiety, empathy and a strange personality. William syndrome among individuals enhances music ability among persons (Mervis and Becerra, 2007). The music capabilities have been established to supersede an individual’s overall cognitive abilities. People with William syndrome have a strong urge for music and tend to spend more time listening to music. The slightest presence of music will divert the attention of an individual with William syndrome. Participation and Restrictions in Participation William syndrome affects the participation of individuals having the syndrome. The tendency of infected children to be more social and especially to strangers is a risky situation (Mervis & Becerra, 2007). The children can easily be manipulated hence parents should establish means of restricting children interaction with strangers. In addition, visuospatial and cognitive disadvantages make the individuals incapable of making some significant certain decisions in life (Merla et al., 2010). People with William syndrome experienced development delays that disadvantage them in the social perspective. Brain abnormalities and mental retardation are common to both deletion and duplication syndrome. Duplication syndrome affects speech and language delays among children. Delayed speech and language limit children from interacting with other children of the same peer. Not all individuals with William syndrome are over social; some are aggressive. The differences are caused by the two different occurrences of William syndrome. The deletion syndrome as mentioned before, has a tendency to make individuals more social, on the other hand, the duplication syndrome makes individuals less interactive and more aggressive. The aggressive nature makes an individual prone to conflict and fights. Such individuals have to be restricted from certain activities that can trigger their aggressive nature. Cardiovascular complications caused by William syndrome requires that care and consideration when dealing with individuals having William syndrome. Hypertension common in the deletion syndrome requires that victims refrain from all activities and situation that can trigger cardiac arrest. Excessive anger and anxiety should be avoided to avoid more cardiovascular complications (Mervis & Becerra, 2007). Some neurological complications associated with William syndromes like hyperreflexia and cerebellar affect the normal functioning of individuals. The condition makes individuals with William syndrome experience difficulties in coordination. For instance, a person with William syndrome may face coordination difficulties in walking down a staircase. The coordination complication is common among individuals with deletion syndrome. Heights are thus considered risk areas in case coordination of such individuals gets troubled when in such heights. In duplication syndrome, individuals are likely to experience instances of epilepsy. The condition of epilepsy requires that such individuals stay away from fire, sharp objects, heights and water bodies. Such areas are considered risky and able to cause death in the case of seizures. Environmental Factors; Environmental factors do not cause William syndrome among individuals (Mervis and Becerra, 2007). William syndrome is a genetic disorder that can be affected by some environmental factors. Most effects of environmental factors are indirect since they are only considered when certain complications of the William syndrome exist (Pober, 2010). Some environmental factors are considered useful and others harmful or risky for individuals with William syndrome. For instance, heights and stairs are considered dangerous for individuals with William syndrome. Fire, sharp objects, heights and water bodies are risky environmental conditions for individuals likely to encounter seizures. A specific environmental condition that include areas where music is present, are more conducive by some individuals with William syndrome. Music has been established to arrest the attention of individuals with William syndrome. Some individual with William syndrome are unable to detect sound volumes that are too low. The neurological complication is referred to as hyperacusis a condition that affects the auditory sensitivity (Merla et al, 2010). However, William syndrome may cause hypersensitivity of the auditory nerve. Such a condition means that individuals with similar conditions avoid environments with noise pollution. One important environment that researchers have used to study the William syndrome is the learning environment. Most students with William syndrome exhibit signs of mental retardation. There are incidences where individuals with William syndrome record 100% score in intellectual quotient tests. Such a low IQ quotient slows the learning capacity of learners hence lowering their academic potential. Personal Factors According to Pober (2010), the William syndrome is genetically transmitted from parents to infants. At an individual level, the William syndrome may affect normal life of an individual. At an early stage, individuals with William syndrome face a difficulty in acquisition of language (Mervis and Becerra, 2007). Personal factors of persons with William syndrome are numerous and vary between the two types of the William syndrome. Personalities vary depending on the particular type of William syndrome. Deletion syndrome makes individuals have a more friendly personality that makes such individuals more social. On the contrary, duplication syndrome drives individuals to have the tendency of being more aggressive. The aggressive nature reduces an individual’s social interaction. Individual perception and decision making vary with some individual showing difficulties in visuospatial. Various researches on William syndrome have concluded that individuals with the syndrome have high tendencies of being empathic during their young age (Merla et al., 2010). At an early age, William syndrome makes individuals affectionate, sensitive and charming. The conditions are beyond personal control. Conclusion A range of genetic disease exists with some hereditary transmitted and others occurring because of mutation during one’s life. William syndrome is a genetically transmitted disorder that has a range of effects among affected individuals. Two types of William syndrome include the deletion syndrome and the duplication syndrome. The two types of syndromes affect individuals in various ways. The facial characteristics include a broad forehead for both the two types of the syndrome. Deletion syndrome exhibits phenotypically through the low nasal root, long philtrum and full lips. On the other hand duplication syndrome exhibit phenotypically through the high broad nose, short philtrum and thin lips. Other complications associated with William syndrome include growth and endocrine problems, abnormalities in the cardiovascular, abnormalities of the connective tissues, neurological defects, cognitive defects and behavioral difficulties. Researchers have established that William syndrome affects an individual social life. References Merla, et al. (2010). Copy number variants at Williams–Beuren syndrome 7q11.23 region. Review article Hum Genet (2010) 128:3–26. Retrieved from https://williams-syndrome.org/sites/williams-syndrome.org/files/Merla_genetics.pdf Mervis, C.B & Becerra, A.M. (2007). Language and Communicative Development in Williams Syndrome. Mental retardation and developmental disabilities research reviews 13, pp3 – 15. Retrieved from http://ruccs.rutgers.edu/~karin/550.READINGS/Mervis_Williams.pdf Pober B. (2010). Williams–Beuren Syndrome. The new england journal of medicine. 362, pp239- 291 https://williams-syndrome.org/sites/williams-syndrome.org/files/NEJM-WBS-MedicalProgress.pdf World Health Organization. (2002). Towards Common Language A for Functioning, Disability and Health ICF. ICF the International Classification of Functioning, Disability and Health. Geneva: World Health Organization. Read More