individuals with autistic spectrum conditions 1.1 It is important to recognise that individuals who are on the autism spectrum are seen as individuals. Clients with autism can easily be grouped into an autism grouping when providing support for them. For example‚ two clients who reside in the same property or within the same company could find themselves being provided support for their autism rather than their individualities‚ strengths and interests. This can lead to a blatant disregard for person
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Phenylketonuria (PKU) a) Discuss in molecular detail the genetic and biochemical basis for PKU. Phenylketonuria (an inborn error of metabolism) is characterized by mutations of the phenylalanine hydroxylase (PAH) gene. PAH converts phenylalanine (essential amino acid) into tyrosine and requires the cofactor tetrahydrobiopterin (BH4)‚ molecular oxygen‚ and iron to do so. Loss of PAH activity results in increased concentrations of phenylalanine in the blood and toxic concentrations in the brain
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The traditional phenylketonuria (PKU) is an example of inborn errors in metabolism and this is categorized by a total lack of an enzyme called phenylalanine hydroxylase‚ this enzyme usually converts phenylalanine to tyrosine‚ http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1684467/ if this conversion doesn’t take place in causes the blood to build up with phenylalanine causing a problem in the urinary tracks. The genetic disorder causes mutilation of brain development‚ follow-on with mental retardation
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means that if the mother has the mutated gene and the father has the mutated gene‚ their offspring has 25% chance of having the disorder and a 50% chance of passing the mutated gene on and making their offspring a carrier. According to the National PKU Alliance‚ approximately 1 in every 50 people are carriers of the mutated gene that causes phenylketonuria‚ and phenylketonuria affects approximately 1 out of every 10‚000 to 1 out of every 20‚000 depending upon the country of origin. For some reason
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to take the baby home. Newborn screening revealed that the new baby‚ Jennifer‚ is positive for phenylketonuria (PKU). The Chang’s are confused because their baby looks normal and the pregnancy progressed with few complications. Mrs. Chang even had a normal amniocentesis early in the pregnancy. The Chang family is now looking for answers and advice on how to take care of their child. PKU occurs in about 1 in 10‚000 to 1 in 15‚000 newborns. It is a autosomal recessive trait and is caused when the gene
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Ahmed M .Qarala 10/18 Mrs. Reyes PKU/Phenylketonuria PKU is the rare condition that the baby is born without the ability to break down an amino acid called phenylalanine. This birth defect is rare because it takes 2 parents that are carriers of the disease to have a child and even than its still rare for any of the kids to become anymore than carriers. Babies that are born with PKU are missing an enzyme called phenylalanine hydroxylase which are needed to break down the essential amino
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seems to be is the after effects of the choice to try to have a healthy child. For example‚ let’s say that a husband and wife are ready to have children but they both carry the PKU disease gene. Now the parents have two choices‚ they can either bring their baby with PKU into this world or they can abort their child with PKU. One big negative thing about keeping their affected child is that they will have to see their child suffer from the disease and most likely bury it when the disease consumes
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Phenylketonuria‚ also known as PKU‚ was discovered in the 1920s by a Norwegian doctor named Asbjorn Folling. As the story goes there was a young couple by the name of Harry and Borgny Egeland. Harry was a dentist and Borgny had quit working to be a devote wife and mother. Shortly after their marriage Borgny became pregnant with their first child‚ a beautiful little girl named Liv. As Liv grew and 3 years had passed her parents became concerned with the fact that she hadn’t began talking yet.
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SPED 2: Introduction to Special Education Mental Retardation(intellectual disability) Complex developmental disability It refers to substantial limitation in present functioning. It is characterized by significantly sub-average intellectual functioning‚ existing concurrently with related limitations in two or more of the following adaptive skills area. Substantial limitation in present functioning * Means that the person has difficulty in performing everyday activities. Significantly
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suggests that environmental forces and a child’s biological dispositions enforce development. The activities and interactions in a person’s immediate surrounds allow a person to develop (Berk‚ L.E.‚ 2010). 2. REVIEW: Explain the genetic origins of PKU and Down syndrome. Cite evidence that both heredity
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