Children get it by inheriting it from their parents. Is a storage disease in which harmful quantities of a fatty substance called ganglioside build up in tissues and nerve cells in the brain. The condition is caused by insufficient activity of an enzyme. This disease is has various preventions, Symptoms, causes, forms, and treatments. There are two forms of Tay-Sachs.
Adoption studies go one step further in narrowing down a strong correlational link by ruling out the effect of environment on development of schizophrenia to illustrate the genetic link more clearly. They do this by comparing adopted children to their biological parents to determine links with schizophrenia. Kendler found that first degree relatives of individuals with schizophrenia are 18 times more at risk of developing the condition as the general population. Illustrating the genetic predisposition within families who share genes, strongly supporting the genetic explanation as there is such a high concordance rate. However this study can be criticised because of its retrospective analysis after the disorder had developed, thus it may be more conclusive if a prospective study was conducted to show the ‘before and after’ effects within families.
The syndrome is passed from parents to children. Marfan syndrome is a mutation in FBN1 gene located on chromosome 15q21.1. Marfan syndrome is heredity cause if you’re one of your parents has it you can get it. Some sign and symptoms starting with the skeleton are arms, legs, toes, fingers that are longer than normal. If your face is long and narrowed and if your teeth are crowded cause you have an arch on the top roof.
There are many reasons why someone would argue these reasons for instance mental health could be argued by someone who supports the nature debate that someone can be born with genes that can make them more susceptible to problems in this area. From another angle though, someone arguing for the sake of the nurture debate could say that this was false and that someone has to have had the influence of bad things happening to them during their life to be this way and cannot be born that way. Mental disorders account for a large proportion of the diseases in young people from all societies (s1). Most start at an early age but are not picked up until later in life, and it is of great concern as it notably results in lower educational achievements, substance abuse, violence and poor reproductive and sexual health (s3). This issue with mental health is a huge problem to our society.
Brain scans can be used to help diagnose some disorders. Furthermore, the genes we are born with, from our parents, provide the blueprint for our bodies and brains. A slight abnormality in our genes can affect the functioning of our brains. Also to operate properly the brain relies on hundreds of chemicals to operate in the correct balance, these chemicals are used to send messages around the brain. Therefore if there are chemical imbalances abnormality may occur, for example low levels of serotonin are linked to depression and schizophrenia is linked with high levels of dopamine.
Smith and Ellen Magenis, the syndrome results from a deletion on chromosome 17, specifically referred to as deletion 17p11.2 ( Fundukian, 2010). Smith-Magenis Syndrome (SMS) for Dummies Smith-Magenis syndrome is one of the many genetic disorders babies have a risk of being born with. SMS is a relatively rare genetic mutation in the general population that is caused by the deletion on chromosome 17. There are several distinct features of the body parts with SMS including mental retardation. Body parts that are usually directly affected are facial parts, the toes, the fore head, the ears, and the hands.
The role of both genetic and environmental influences has a large part in the physical, psychosocial and cognition development of infants. Even an infant’s temperament can easily be determined by those same influences. Their temperament can also affect the manner in which they proceed through Piaget’s six sensorimotor substages. Since the moment a baby is conceived, both the genes from the mother and father, plus the environmental factors will play a role on an infant’s physical development. Genes can determine an infant’s eye color, skin tone, body size and health condition, such as, heart disease passed on from a parent.
Similar disorders include Nager Sydrome and Miller Syndrome. Mutations in the TFOC1 gene are most commonly the cause for Treacher Collins. Mutations in this gene have been proven to affect the production of rRNA. Decreased production of rRNA causes the death of cells affecting the development of facial structure, causing the abnormalities of the face seen in Treacher Collins. Treacher Collins causes downward sloping eyes (these can lead to vision issues), ears may be undersized or completely absent, no ear canal, middle ear bones can be missing affecting hearing, missing cheek bones, underdeveloped jaw, cleft pallet can occur, these facial issues can lead to problems with speech, swallowing, and sometimes breathing.
Many people with FASD are not referred for diagnosis until relatively late (if ever) and miss out on the benefits of early intervention. By the time these individuals are identified and receive treatment a pattern of significant behavioral and emotional problems, poor school functioning, and negative family interactions may already be well established (Paley, et al, 2011). A recently recognized problem of FASD is among people in the criminal justice system (Kinney, 2012, p.164). Behavioral interventions can include behavior consultations, educational and cognitive interventions, cognitive control therapy, language and literacy training, self regulation intervention as well as other methods (Paley, et al., 2011). There would be great value in tracking individuals with FASD after they are no longer receiving intervention to demonstrate gains in controlled settings and non-controlled settings (Paley, et al., 2011).
Alteration of self-image Children with genetic diseases may suffer a loss of self-esteem during a critical period when children's self-identity is developing. 3. Impact on family relationships Pre symptomatic diagnosis in children also has the potential to alter the relationships that exist between parents and their offspring and among siblings. 4. Impact on life planning Genetic test results may have financial implications for retirement planning and for obtaining life, disability, and health insurance.