Progeria is also known as the Hutchinson Gilford Syndrome. The first time this showed up was at England in 1886 discovered by Jonathan Hutchinson. A child who has progeria body will age eight to ten year for every year the child is alive. Progeria Syndrome is caused by a mutation in gene called LMNA. This gene produces Lamin A, protein which help the structural scaffolding that holds the nucleus cell together. When a defective Lamin A makes the nucleus unstable this seems to lead to the process of premature aging.
Progeria starts to show sign after 18-24 months other than that the child born looks really healthy. This syndrome is rare and can be fatal genetic condition known only in children. Progeria is a harsh condition because the symptoms the children have are: short in stature, low weight or loss of body fat, facial is smaller than the head, underdeveloped jaw, malformation, crowding teeth, abnormally prominent eyes, small “beak-like” nose, absent earlobes, tight, wrinkled skin, and voices are higher pitched than normal.
In the 1st of 2nd year s of life the children go through loss of scalp hair, eyebrows, and eyelashes, very prominent veins of the scalp, loss of layer of fat beneath the skin, skeletal and nail defects, joint stiffness and hip dislocation, and the child can suffer from a stroke, heart attack, chest pain, high blood pressure, non healing fractures, heart disease, and enlarge heart. Doctors predicted that a child with progeria will not make it past their thirteenth birthday.
There are about 1 in 48 million newborns that are diagnosed with progeria. Only a few people with progeria survive past the age of thirteen. These children’s bodies are so old making it easy to fracture. Barbara Walters did an interview with couple young children with progeria.
As Barbra Walters mentions in the interview and according to my research there is a trial drug program that some of the kids are taking. The progeria drug trial is where the children are taking pills that were originally designed for cancer. The pill is supposed to reverse the dramatic instability in their cells. As shown in the video Hayley say she thinks the trial is working. Some scientists say they don’t know how we age, but the progeria syndrome is teaching them right now. Collins believes that the thing stopping the kids from producing protein that makes their cells unable to divide is the same protein that is being produced by all of us. These might be the cause from preventing humans from being immortal. As of right now in the trial there has been no proven fact that is working right now.
Autistic children tend to have a hard time developing socially. For the most part, if their autism is severe enough, they tend to live in their own little world. Some parents choose not to invite autistic children and their families to events; for fear their child may “catch” autism. The noises they make and things that autistic children sometimes do can freak other kids out, which makes those parents even less likely to invite them back. Simple tasks such as transitioning from play time to meal time are hard sometimes hard for autistic children to make, which makes these times very stressful on parents and siblings who have to be patient and wait for the autistic child to be ready to function and make that transition. It makes it hard to even have family outings anymore.
This video shows a child who has autism, he says a lot of words twice and doesn't completely understand what autism actually is. It wasn't filmed in the United States, but the same challenges he faces are faced by children here.
Autism doesn’t only take a toll on a family’s social outings. It takes a huge emotional toll, especially on the parents. Parents tend to feel a close emotional bond with their children. But, with autistic children who are unable to sustain those close relationships because of communication barriers and unsocial behavior, parents can’t form those close emotional bonds. This puts a stress on both their relationship with their children and also with their spouses. Siblings of children with autism generally have trouble forming relationships as they get older too. They tend to act and out and become aggressive towards others around the age of ten. However, research has shown that some siblings of autistic children have a higher level of maturity and self-reliance that other kids don’t have. Their parents have to spend so much time worrying about the autistic child in their household that the siblings will have to pretty much take care of themselves.
This video explains how a family with autism dealt with one of their siblings severe autism.
Many doctors have been working with the Gluten-Free/Casein-Free diet in order to reduce the symptoms of autism. Trying to use this diet in families requires that everyone in the family has to be on the same diet. It can cost money which puts a monetary stress on parents to go along with the emotional and social stress that autistic children place on them. For most children their symptoms will improve with time while on this diet. It has also shown a positive effect on other children and members of the family as far as allergies and digestive problems go.
There is not a cure for autism. That statement alone puts a huge amount of stress on parents and siblings of autistic children. People can try interventions, medications, or other therapies such as the GF/CF diet. Treatment and medication can help as the child gets older, but people with autism will never be completely “normal.” These children can be withdrawn, depressed, antisocial; they can mix up their words or repeat them a lot. Many different symptoms of autism can be shown or repressed, it just depends on the child.
Play Therapy was developed in the 20th century. There are different methods of play therapy out there but the most common is where the child plays and the therapist helps the child address and resolve the child’s own problems. Through this therapy children learn to communicate with others, express feelings, modify behavior, develop problem-solving skills, and learn many ways to relate to others. It may sound odd to use play as a therapy, but with kids it might be the only way to know what’s going on and if you can help them. In recent years a growing number of mental health professionals have seen that play is important to human happiness. Play theorists have discovered that play is a fun, enjoyable activity that heightens our spirits and brightens our outlook on life. In play therapy the toys are like the child’s words and play is the child’s language. This is also to help with cognitive development and to get insight about and resolution of inner conflicts or dysfunctional thinking in the child.
It starts by the child being referred to a play therapist to resolve their problems. Play therapy allows a therapist to assess and understand children's play. The therapy is utilized to help children cope with difficult emotions and find solutions to problems. Everyone can benefit from play therapy but especially children ages three through twelve years old. Teens and adults have also benefited from play techniques and recreational processes. Play therapy is also a good way for children because their language development usually lags behind their cognitive development. In play children are able to express through symbolic play better than verbalizing a traumatic event or experience. Each play therapy session varies in length but usually last 30 to 50 minutes. Sessions are usually weekly and it’s said that it takes a child 20 sessions to resolve a problem, however, some children improve a lot faster.
Another way therapists use to help children is sand tray therapy. Sand tray therapy is a method used for adults and children by analyzing how they express themselves through the manipulation of objects in the small table sandbox. The participants create a story inside the tray by arranging people, animals, and other items in the sand tray. The therapist can then evaluate the choices of objects they have made to better understand the issue and help the participant. Although it just depends on how the therapist is trained on how they will perceive what is in the tray.
Imaginary friends? Schizophrenia? Tied Together?
by Trey Dunsirn
There are two words that you do not hear very often in the same sentence: children, and schizophrenia. That’s because it is rare that it happens. In fact, it is only less than 1/16 of the entire population of the world1! But, I think I can prove that it is more common than you think. I’m going to mess with your mind
Do you know what the symptoms of schizophrenia are? They are strange thinking, abnormal feelings, and unusual behavior. I know that explains most of us at any point in time of our life, but it is more of a serious case. The same symptoms apply to that of children (obviously). Now, if you really start to think about it, compare these effects to kids with imaginary friends. See the relationship?
Hallucinations and delusions are the most common symptoms of schizophrenia. When a child tells you about their imaginary friends, what do they say? They give you the name, and what the imaginary friend said about you. This can only conclude that imaginary friends are a sign that some kids might have a predisposition to schizophrenia. The following videos are conclusive evidence of the argument of whether or not imaginary friends are a sign of schizophrenia (or if imaginary friends ARE schizophrenia).
Fragile X Syndrome, also know as Martin-Bell Syndrome is a common disability that is genectically inherited from the parents. Fragile X is a disability that prevents the body form producing enough protein that is needed for most of the body's cells, mainly the brain. It prevents them from functioning normally, and depends on the patient. Mosty on the gender and how sever the symptoms are.
Working with a Fragile X patient I have first hand experience on how the symptoms affect someone. Basically the body does't tell the patient when they're are full so they constantly eat with out stopping. This cause problems in other areas to. Patients can be overweight. Also they eat so much that the food they eat gets backed up into their intestines during breakdown process and they can't go to the bathroom for days. This could cause the intestines to shut down.
Fragile X can also cause other disorders in patients such as ADD (Attention Deficit Disorder) or even autism. The patient I work with happens to have autism as well. Fragile X affects men more than women. One out of 4,000 men are born with it compared to one of 8,000 women.
Fragile X is uncurable although therapists and specialist can help patients live normal healthy lives. Fragile X doesn't prevent the patient from learnig new things. They can learn basic academic skills and learn most basic household skills such as washing the dishes or doing the laundry. It does take them a little more time to learn than most people so you'd have to be an extremely patient person to work with them.
Down syndrome, or Trisomy 21, occurs when an infant is born with an extra chromosome on the 21st pair. This genetic disorder is present in 1 in every 500 babies, affecting the way they develop both mentally and physically. Although the infant is born with Down syndrome, each case is very different, and each child’s rate of development varies widely. Some children with DS are considered to be very dependent on their caregivers and doctors, while others lead potentially normal lives with little to no help from others.
Trisomy 21, or DS, is caused by a genetic mutation at conception. Normally, at conception the baby inherits a total of 46 chromosomes, 23 from mom, and 23 from dad. In most cases Down syndrome occurs in the formation of an extra chromosome attaching to the 21st pair, creating a total of 47 chromosomes instead of 46. However, in rare cases, an extra chromosome can attach to the 15th pair, but instead of the 21st pair having three chromosomes and every other pair having two, one set will only have one chromosome and the 15th will have three, leaving the body with its normal number of 46 chromosomes. This type of Down syndrome is called Translocation Down Syndrome. Although the infant or child may test positive for Down syndrome, they will not display any of the physical or developmental characteristics of this disorder. When a child is born with this type of Down syndrome, one of the parents must also have this disorder, but may never know this because the body is developing properly and there was never a need for testing. The third type of Down syndrome is called Mosaicism. Mosaicism occurs in 2% to 5% of cases of Down syndrome. A person with Mosaic Down syndrome may exhibit all, some, or none of the characteristics of Down syndrome depending on the percent of cells carrying the extra chromosome and where these cells are located.
Although Down syndrome cannot be prevented, or treated with medical attention, it can be detected before the child is born, giving the parents the option to terminate, or continue, the pregnancy. If the parents decide to keep the baby, most doctors will provide information to the parents for both best and worst case scenarios with the child. The doctor will also give the parents information on medical conditions that may occur in a Down syndrome baby such as a congenital heart defect. The most common heart defect in infants with DS is called CAVC, or a complete atrial ventricular canal defect. This heart defect must be surgically repaired before the infant is six months of age, otherwise the infant may die of congestive heart failure.
Aside from the heart defect, other physical affects in children with DS include, a fat tongue, a gap between the first and second toe, upward slanted eyes, one straight line across the palm of the hand, low set eyes or ears, a large forehead, and/or a flat facial profile. Low muscle tone is also a characteristic in infants with DS causing them to seem especially “floppy”. Because of the low muscle tone and delay in development of motor skills, some facilities will do in-home therapy on the infant at the parent’s request and free of charge.
Other developmental delays a child with DS may encounter are those affecting areas such as their speech, fine and gross motor skills, toileting, dressing themselves, etc. However, just because these children may be slower at performing these types of tasks, does not mean that they cannot learn to do so at their own pace. Many children with DS can learn to do most everything a normal child can, just with a little more practice and help, over time.
At birth there is no way of determining the rate at which the child will develop, but studies have shown that attention, love, and the consideration of the child as a normal part of the family have had great affects on the rate of development in that child. Like all other children do, a DS child wants to be loved, given attention, and the opportunity to learn and explore their world in a safe environment. Other studies in the development of children with DS have shown that those born with older, “normal”, siblings will develop much fast than those who are the oldest or only child. Just as any other toddler does, the DS child will want to follow, play with, and do exactly what their older sibling does.
As the DS child ages into adolescents, they will undergo the same hormonal changes that any other adolescent does, however, DS males cannot reproduce because they lack the production of sperm. Females on the other hand, can reproduce. They will also begin to develop feelings for the opposite sex, and want a boyfriend/girlfriend just as most other normal children do. After adolescents, if the DS individual is considered to be highly functional, they may go on to college, earn a degree, marry, and have children just as any other functioning adult would.
WORKS CITED
CBS News. Learning about Down Syndrome. YouTube. Web. 08 December 2010
Heyn, Sietske N., PhD. Down Syndrome. MedicineNet. Web. 07 December 2010
Scott, Charles I., MD. Down Syndrome. KidsHealth. Web. 07 December 2010
Alcohol and Pregnancy
by April Scott
Alcohol plays a major role in society today. It is constantly being in our minds through advertisements, whether its commercials or billboards, holidays, or even just at the social scene. Alcohol is consumed for many purposes, such as celebrations, to increase romance or a way to relax. Alcohol is a drug that is depended upon by the majority of our society. Alcohol has very damaging effects, not only does it cause self-inflicted diseases resembling alcoholism or cirrhosis of the liver, but it harms unborn fetuses as well. Many women drink alcohol when they do not even know that they are pregnant yet. Alcohol can cause disorders such as Fetal Alcohol Syndrome and Fetal Alcohol Effects.
Fetal Alcohol Syndrome is a congenital disorder which is characterized by a variety of physical and behavioral traits that result from maternal alcohol consumption during pregnancy. Fetal Alcohol Effects indicates that alcohol is being considered as one of the possible causes of a patient's birth defects. In other words, FAE is a less severe form of FAS. Both FAS and FAE are the results of the use of teratogens, which are nongenetic influences that can potentially complicate fetal development.
Many people do not think that Fetal Alcohol Syndrome is common. This statistic however is widely varied. Studies show that FAS rates range from 0.2-1.5 per 1,000 births in different areas of the United States. I think that the odds of a child suffering from FAS is low because most mothers that have children are smart about their choices, if you know you’re having a child then you must give up the alcohol. Fetal Alcohol Syndrome is only based on the mothers care of herself and if she chooses to endanger the life and well being of her children.
There are many signs of which may be able to tell you if you or your child suffers from Fetal Alcohol Syndrome. They may exhibit the following behaviors; small in height or weight in comparison to others of the same age, abnormal facial features such as small eye openings, poor coordination, hyperactive behavior, learning disabilities, developmental disabilities, mental retardation or low IQ, problems with daily living, poor reasoning and judgment skills, and sleep and sucking disturbances in infancy. Children with who suffer from FAS are also said to be at risk for psychiatric problems, criminal behavior, unemployment, and incomplete education. These are known as “secondary conditions” which are problems that children are not born with and may acquire throughout life but do not necessarily have to. These are very serious risks that a child suffering from FAS might deal with. However there are some ways to help prevent these problems. A child who is diagnosed with FAS early in life can be placed in classes that help the child learn and behave better. In addition children with FAS need a loving, nurturing, and stable home in order to avoid any disruptions in their life or that may cause harmful relationships. Children with FAS who grow up around violence and hostility are much more likely to develop the “secondary conditions” as mentioned before which are a huge risk to the outcome of the child’s behavior the child grows up and enters the world outside the home.
Mothers have a huge role in whether or not their child will suffer from FAS but they are not the only ones who can prevent it. The fathers’ role can also be very important in helping the woman abstain from drinking alcohol during pregnancy. He can encourage non-alcoholic behavior by avoiding situations with alcohol present and abstaining himself. To reduce the problem or Fetal Alcohol Syndrome, women who are already pregnant and are drinking should not be the only ones targeting for prevention, but also women who could become pregnant and are drinking.
Although many women are aware that heavy drinking during pregnancy can cause birth defects, many do not realize that even just a little bit also may harm the fetus. In fact, no level of alcohol use during pregnancy is proven safe. When a pregnant woman drinks, alcohol passes through the placenta to her fetus. In the fetus’s immature body, alcohol is broken down much more slowly than in an adult’s body. The result is the alcohol level of the baby’s blood can be higher and remain elevated longer than the level in the mother’s blood. This sometimes causes the baby to suffer lifelong damage. When you drink your unborn child drinks too.