Although only three to five percent of individuals are born with a genetic disorder, there are over 6,000 different identified genetic mutations that have been discovered. Different genes affect individuals in different ways. A person may have the gene for a particular genetic disorder and actually have the symptoms of the disease. A person may have the gene for a particular genetic disorder but not show any symptoms either because the onset of the disease will occur later in life such as Huntington disease or because the disease is under control through the use of medication. Some genes make it virtually inevitable that an individual will eventually show the symptoms of the disease whereas other genes merely make an individual more prone to developing a disease. If you are born to parents who both carry an autosomal recessive mutation, you have a 1 in 4 chance of getting the broken genes from both parents and developing the disease. You have a 50% (1 in 2) chance of inheriting one abnormal gene. This would make you a carrier.
There has always been confusion surrounding exactly what a "Related Disorder” is in relation to Joubert Syndrome. In order to clarify this, the evolution of Joubert syndrome in the medical world needs to be understood. The history of Joubert Syndrome is a complex, rich journey. In 1969 Dr. Marie Joubert came across a family with more than one child showing similar symptoms which included abnormal eye movements, ataxia, and retardation, indicating a genetic disorder never before documented. At that time there were no MRI's, no genetic tests, all that they had to go by was what could be observed and what could be understood from a post-mortem examination. In 1977, in Zurich, Switzerland, Dr. Eugen Boltsha...
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...Joubert Syndrome children recently that told a story of flying to New York to attend Joubert Syndrome conference in which other passengers had asked to have the children moved to the rear of the plane, as if the syndrome was catching. The twenty four hour a day care is stressful for parents and caregivers dealing with the physical and the emotional needs of each child. The difficulties of accessing individuals trained to assist with special needs children to relieve the parents is indeed challenging. Sadly, even when respite services are available, the lack of staff communication and working closely with each other, further adds to the problem. Many parents and caregivers of special needs individuals become socially isolated. Although I do not feel any shame for my children being the way they are, I tend to be more introverted now than I was before they were born.
Rett syndrome is a postnatal neurodevelopmental disorder that mainly affects girls but is rarely found in boys as well. Rett syndrome strikes all racial and ethnic groups, and occurs worldwide in 1 of every 10,000 female births. It was first identified by Dr. Andreas Rett, an Austrian physician who described it in an article published in 1966. Even though Rett described the disorder in his 1966 article it went another 17 years until being generally recognized after Swedish researcher Dr. Bengt Hagberg published an article about the disorder in 1983 (Rett Syndrome Fact Sheet).
· genetics: occasionally the disease has a tendency to run in certain families (inherited or genetic predisposition), but this is not common.
Advantages of genetic testing may be helpful in determining whether or not you have a disease or are proba...
Unfortunately, a lot of parents may have a difficult time accepting their child, and coping with their needs and the responsibilities. From the book “The Elephant in the Playroom,” some families dealt with depression and physical and mental deterioration of their health. These struggles were shown in the story by Laura Cichoracki. Laura’s son’s name was Patrick. Patrick was a 6-years-old boy with autism. “I wasn’t eating right, I wasn’t showering regularly, I wasn’t sleeping well” (Brodey, p. 64). I also read the story told by Susan Marrash-Minnerly, which highlighted emotions that parents face. Susan also shed light on how wonderful children with special needs can be to a family, such as her ten-year-old third grader who had autism. Susan talked about how it was normal to feel angry at times, especially with the ups and downs a child’s disability may come with. “When I look back, I want to tell other parents that a child’s future is worth grieving over – but it’s not the end of the world” (Brodey, p. 75). After reading these stories, it became apparent to me that families who are raising kids with special needs, need support, kindness, and available resources. “I was fortunate to be surrounded by other moms who understood my pain…who could be supportive and emphatic.” (Brodey, p. 67). Overall, educators can use this kind of information that was shared in “The Elephant in the Playroom” about family systems and risk/resiliency by creating lines of open communication between families. This is to connect parents together that share similar struggles. By creating open communication is can allows for the teacher and parents to be on the same page when it comes to the issues affecting special needs students and
This genetic disorder is not specific to a certain age, ethnic group, or gender; theref...
Jonathan Juste 4/21/14 Hum. Bio Analysis of Angelman Syndrome In 1965 , Dr. Harry Angelman, an English physician, first described three children with characteristics now known as the Angelman syndrome. Angelman syndrome is a neuro-genetic disorder that is usually diagnosed at a very young age, and it happens within 1 in every 15,000 births.
disorder is a genetic disposition. This has yet to be proven but it is thought
Before we start discussing how genetic tests are developed, let us discuss how genes can trigger disease. A sound body requires the action of many proteins working together. For a protein to function properly, an intact gene must encode for that specific protein. A mutation describes a gene which has been changed. The most common type of mutation is a single change of a nucleotide of DNA. Other types of mutations include the loss or gain of a nucleotide and the disappearance or multiplication of long segments of DNA. Mutations can have three effects: beneficial, harmful, or neutral. Mutations are beneficial if the fitness of an individual is enhanced. Harmful mutations can either slightly alter a protein, where the protein may still minimally function, or they may totally disable a protein. In this instance, the outcome is not only based on how a mutation alters a protein’s function, but on how important the protein is to the body (Understanding Gene Testing).
Along with genetic mutations, there is also genetic diseases. Genetic diseases are an abnormality in the DNA. One of the most known and common genetic disease is “Chromosome 21” or formally known as Down syndrome. It is where a child is born with three sets of the Chromosome 21 instead of being born with only two. How it happens is when a part of a chromosome 21 becomes attached to another one during the stage of reproduction. You are able to tell if a person has Down syndrome or not. Most of the physical features are obvious. By looking at a person’s face you are able to tell, because
Pappas, L. (2013, November 2). Interview by S Pappas. Coping with a Child with Special Needs.
What is a normal family? What would you do if your child seems as if they are developing at a normal pace and then all of a sudden just stops and regresses back to before he or she could walk or talk? Do you think you have what it takes to raise a child with autism? Families of children with autism start to face challenges that set them apart from other families from day one of noticing something is not quite right with their child. When a family first finds out that their child is autistic it is very overwhelming emotionally. Not only is it emotionally overwhelming add some stress to the intense one on one therapy sessions at home and on site, trying to keep focused on other issues outside of the home like a career, and many more issues that arise when given the gift of a child with autism. When a family has a child with autism, the family's life changes (Luther, Canham & Cureton, 2005). While all these issues might be overwhelming for the rest of the ...
For almost all types of Albinism both parents or mates must carry an albinism gene in order for their child to have albinism. Because the body has two sets of genes, a person may have normal pigmentation but carry the albinism gene. If a person has one normal gene and one albinism gene that is still enough to pass the disease on to their children. Even if both parents have the albinism gene it does not mean they have the sickness. The baby will have a one out of four chance of getting the disease. This is inherited by autosomal recessive inheritance.
Klein, M. D., Cook, R. E., & Richardson-Gibbs, A. M. (2001). Strategies for Including Children with Special Needs in Early Childhood Settings. Albany, NY: Delmar.
Most individuals are either related to or know someone who is effected by some type of disability. Many of these disabilities are caused by genetic disorders. Genetic disorders may alter physical appearance and cause mild to severe mental retardation. Fragile X syndrome, Down syndrome, Turners syndrome and many other syndromes result from a mutation of a chromosome, an extra chromosome, or too few chromosomes.
Someone working with special needs children should be aware of the many factors that contribute to a child’s improvement. Although there are many factors, some of the main ones include the child’s social interaction, environment, and also overall health.