- Family Genetic History
- Evaluation of family genetic history
The major health problem challenging the above described family is hearing loss. Most of the family members have been diagnosed with non progressive deafness. Other family members have also been diagnosed with mental retardation, meningitis and chronic ear infections. Pregnant mothers in the family have had high levels of retinoic acid as well as maternal diabetes. The family has been characterized by members with unusual physical features are associated with the hearing impairment; crumbled ears, hypotelorism eyes- close together eyes, a wide nasal bridge nose and microcephaly head. The history of hearing loss problems in the family poses a very probable risk of the adult participant developing hearing loss and related complications as well as his future generations.
Measures should be implemented by my adult participant to ensure that that does not happen. The family genetic history can be a potential risk during the lifetime period of the family members. Majority of the individuals with hearing loss problems are known to have difficulties in earning a quality education. However, from the history of my participant’s family they have suffered non progressive deafness which lasts for a period of time. This has been beneficial to the family as it is able to earn a quality education as well as manage the hearing impairment through obtaining of treatment.
- Planning for future wellness
The participant’s family has had the genetic hearing loss which has also caused death to some family members. There are a number of measures as well as lifestyle changes that could help avoid the development of the conditions. It is very important to enlighten my participant on the need for careful genetic counseling since parents with deaf children have a history of deafness in the family. Deafness has had less effect on the history of families; however, acquired causes have been known to be the major cause of hearing impairment. More than 50 percent genetic factors cause hearing loss. Informed genetic counseling can help my participant in the decision making process at the time of choosing spouses. It is worth noting that hearing impairment gets severe and even profound at the older age, mainly at 80 years of age.
There are over 400 inherited syndromes linked with hearing loss, determining the etiology of hearing loss for a person often indicates quite a conundrum, especially because 90 percent of the people with congenital hearing loss have hearing biological parents (as quoted in Bennet, 1999). Genetic cou8nselling for couples will there for important as this show that they may be posses’ dominant genes leading into hearing loss problems for the children. It is estimated that for the people with hearing loss, between 60 and 80 percent have autosomal recessive genes while between 23 and 36 percent have autosomal dominant genes with only 2-4 percent X-linked. For nonsyndromic deafness, autosomal recessive muattions are the cause of 80 percent hearing loss especially in profound prelingual- before the onset of speech development deafeness. Autosomal dorminant inheritance on the other hand accounts for much of the poatlingual- after the onset of speech development deafness as well as progressive loss impairment.
Hearing impairment is associated with people who have chromosomal anomalies. To maximize the learning opportunities for such individuals, it is important to be conscious of the above link. Hearing impairment is not very prominent in the family histories, but when it occurs it has intensive effect. According to studies, several body organs can be engaged in syndromic hearing loss. For the future well being of my participant’s family, it will be of great help to identify and classify deafness for effective management. Deafness can be classified on the following parameters; severity of deafness, the type of deafness, the type of the deafness associated with the other features, that is, sydromic versus nonsyndromic hearing loss, the age of onset of the deafness, progressive versus non progressive as well as acquired versus genetic (Bennet, 1999).
Medical record documentation of very important for my participant’s future wellbeing as this will help in proper genetic assessment which will be important for both medical and educational reasons. A series of well documented examination of hearing loss help in monitoring the progression of hearing loss; this will greatly help to identify and treat the right hearing loss complication. Avoiding environments that result into hearing loss in the youthful years can reduce the chances of suffering deafness. Such environments include persistent loud music as well as working in noisy environments such as the gold mines. In a family such as my participants’ where the risk of hereditary hearing is high, it is important to have the children undergo molecular genetic testing and this aids in the future well being of the children. Earlier detection of prelingual deafness is very essential for treatment in children. Delayed speech development in babies is one major sign that a child may be suffering from a hearing loss problem. It is also important to note that the haering loss prevalence increases with age. A child may not manifest any signs of hearing loss; however, for a family with hereditary hearing loss, it is important to have checkups after every stipulated time period for the good health of the family members. I will therefore important for my participant to engange in genetic counseling and medical assessment for future wellness.
Reference
Bennett, R. L. (1999). The practical guide to the genetic family history. New York: Wiley-Liss.
