61. Mader down syndrome is fairly well known among the public to cause mental retardation,but there is another genetic disorder, the Fragile X syndrome, that is more http://www.mhhe.com/biosci/genbio/maderinquiry/crit24.html

Critical Thinking Activity - Chapter 24 COMMENTS/DISCUSSION There are many human disorders that are either entirely genetically based, or genetically influenced. Some of these, such as Down Syndrome and Cystic Fibrosis, are well known to the general public. Others, even more common and not so well-studied, can pose grave dangers to us. One of these, Hemochromatosis , is almost unknown to the layman. For a second excellent article on this extremely important disease, go to What You Don't Know About Iron Can Kill You Down Syndrome is fairly well known among the public to cause mental retardation, but there is another genetic disorder, the Fragile X Syndrome , that is more common. For answers to specific questions about this disease, click here Hemophilia or "Bleeder's Disease" is a heavily studied, genetic disorder well known to affect mostly males. But there is a strange and very distressing inherited disease apparently affecting only females, and that is not familiar to the public, called Rett Syndrome Click here for more information on this serious disorder.

62. Down Syndrome In fact, it is the most frequently occurring genetic disorder, happening once in theUnited States alone, according to the National down syndrome Society (NDSS http://www.stayinginshape.com/3osfcorp/libv/k35.shtml

HEART CANCER WOMEN CHILDREN ... LOOK IT UP Down Syndrome Down syndrome is the most common chromosomal abnormality. It results in mild to moderate mental retardation and other medical conditions. In fact, it is the most frequently occurring genetic disorder, happening once in every 800 to 1,000 live births, and affects 350,000 people in the United States alone, according to the National Down Syndrome Society (NDSS). What causes it? Down syndrome is a chromosomal disorder caused by the presence of excess chromosomal material. A human being normally inherits 23 chromosomes from each of his or her parents, for a total of 46; when there is an extra copy of chromosome number 21, or excess genetic material from this chromosome, it results in Down syndrome. Most of the time, the occurrence of Down syndrome is due to a random event that happened during formation of the reproductive cells, the egg or sperm. Currently, it is not known to be caused by environmental factors or any behavior on the part of the parents. However, maternal age does seem to play a part in the incidence of Down syndrome, according to NDSS. Maternal age a factor The likelihood that a woman under age 30 will have a baby with Down syndrome is less than 1 in 1,000, but those odds increase with age. Here's a look at how the risk increases, from NICHD:

63. The Arc's Q&A On Down Syndrome eye problems than other children who do not have this chromosome disorder. biologymake it feasible now to examine the genetic basis for down syndrome. http://www.thearc.org/faqs/down.html

Down Syndrome by Siegfried M. Pueschel, M.D., Ph.D., M.P.H What is Down syndrome? People with Down syndrome are first and foremost human beings who have recognizable physical characteristics and limited intellectual endowment which are due to the presence of an extra chromosome 21. The estimated incidence of Down syndrome is between 1 in 1,000 to 1 in 1,100 live births. Each year approximately 3,000 to 5,000 children are born with this chromosome disorder. It is believed there are about 250,000 families in the United States who are affected by Down syndrome. How do children with Down syndrome develop? Children with Down syndrome are usually smaller, and their physical and mental developments are slower, than youngsters who do not have Down syndrome. The majority of children with Down syndrome function in the mild to moderate range of mental retardation. However, some children are not mentally retarded at all; they may function in the borderline to low average range; others may be severely mentally retarded. There is a wide variation in mental abilities and developmental progress in children with Down syndrome. Also, their motor development is slow; and instead of walking by 12 to 14 months as other children do, children with Down syndrome usually learn to walk between 15 to 36 months. Language development is also markedly delayed. It is important to note that a caring and enriching home environment, early intervention, and integrated education efforts will have a positive influence on the child’s development.

64. Patau Syndrome Or Trisomy 13 Trisomy 13 is a genetic disorder caused by the triplication of their discoverers (trisomy18 is Edward's syndrome, and trisomy 21 is down's syndrome). http://thibs.menloschool.org/~sweaglesw/school/t13/

Patau Syndrome or Trisomy 13 Web Page by Woodley Note: the author is NOT an expert on this subject. He researched it on the web. Trisomy 13 is a genetic disorder caused by the triplication of chromosome 13. This isn't particularly surprising, because as we all know 13 is an unlucky number. The word "trisomy" means triplitude [of chromosomes]. Also known as Patau Syndrome, the disorder was first identified by Dr. Klaus Patau in 1960. Several other trisomies, such as trisomy 18, are also named after their discoverers (trisomy 18 is Edward's Syndrome, and trisomy 21 is Down's Syndrome). A trisomy can occur on any chromosome; but 13, 18, and 21 are the most common. Patau Syndrome occurs in about one in 20,000 births. Although not as well known as some other syndromes, it is a fairly common disorder, third only to Down Syndrome and Edward's Syndrome; it shows up just as much as cystic fibrosis and muscular dystrophy. A person with Patau Syndrome may have the following special characteristics as a result of the genetic disorder: Sloping forehead Small head Small eyes Cleft lip and/or palate Line across palm Faulty retina Extra dactyls (fingers or toes) Special thanks to Susannah Scruggs for the following information: Nearly 3/4ths of T-13 infants die within their first year of life. For those who survive longer, their physical pathologies ensure that procreation is not possible. Therefore, their offspring definitely could not have the syndrome because they can't have offspring. An adult who carries the gene for T-13 may or may not pass it to their child, while the adult his/herself is NOT afflicted by the genetic disorder. His/her 13th chromosome is attached to the 14th chromosome, causing this trait to be passed possibly to the child as well as causing a duplicate 13th to be formed in cases of Trisomy 13.

65. DOWN SYNDROME down syndrome is a genetic disorder. In almost all cases, it is not passed downthrough families. Instead, it is the result of a single faulty egg or sperm. http://www.utmbhealthcare.org/hil/GENE4593.asp?header=

66. Granada Learning: SIS: SEMERC Information Service down syndrome. down syndrome is a genetic disorder which affects aboutone in six hundred births. It has been the most common cause http://www.granada-learning.com/special_needs/library/librd/down.jhtml

Down Syndrome Down Syndrome is a genetic disorder which affects about one in six hundred births. It has been the most common cause of severe learning difficulties and was first described in 1866 by John Langdon Down. In 1959 Lejeurne discovered that there is an extra chromosome in the body cells of individuals with Down Syndrome. There is evidence of a link to the mother's age as pregnancies of mothers over 44 years are most frequently affected. There is also some evidence that older men are more likely to father Down children. Genetic screening can be used to identify those at risk of having a child with Down syndrome early enough in pregnancy for an abortion to be considered. However, there is a risk that a healthy foetus might be harmed when taking a tissue sample. The features of Down's Syndrome are not always obvious at birth. Many appear as the child gets older. The most striking characteristic is in the face where the upward slope of the eyes gave rise to the old name for the condition, "mongolism". Often people with Down's Syndrome also have a rather pointed and apparently large tongue although this is most likely to be the result of a small mouth. Controversial treatment involving plastic surgery to remodel the eyes and tongue has recently been undertaken. Heart defects are present in about a fifth of cases, leukaemia is more frequent than in other children, and infections, especially ear and chest, are common. Although severe learning difficulties are likely there is a great deal of evidence that early educational intervention can have a significant and positive effect.

67. 74(R) HCR 102 Introduced Version - Bill Text quality of life for 13 people with down syndrome; and 1-4 WHEREAS, Approximately5,000 children are born each year with 1-5 this genetic disorder, and this http://www.capitol.state.tx.us/tlo/74R/billtext/HC00102I.HTM

By Brimer H.C.R. No. 102 74R6305 KMP-D CONCURRENT RESOLUTION 1-1 WHEREAS, Advancements in education, medical research, and 1-2 public awareness are continuing to improve the quality of life for 1-3 people with Down syndrome; and 1-4 WHEREAS, Approximately 5,000 children are born each year with 1-5 this genetic disorder, and this number is projected to double 1-6 within the next decade as a result of improved clinical treatment 1-7 and the increasing number of couples who choose to postpone 1-8 parenting until their later years; and 1-9 WHEREAS, Individuals with Down syndrome are becoming more 1-10 fully integrated into society and are having greater access to 1-11 public institutions, with the result that more and more Americans 1-12 will need to understand and support their fellow citizens; and 1-13 WHEREAS, Myths, prejudices, and stereotypes regarding Down 1-14 syndrome can be overcome only through increased awareness and 1-15 education; and 1-16 WHEREAS, Greater public understanding of Down syndrome will 1-17 increase access to community housing, employment, and social and 1-18 recreational opportunities for people with this genetic disorder; 1-19 already, improved awareness has helped thousands of people with 1-20 Down syndrome to attend school, perform fulfilling and productive 1-21 jobs, and participate in sports and community events; and 1-22 WHEREAS, In recent years the Congress of the United States of 1-23 America has designated October as "National Down Syndrome Month" in 1-24 an effort to promote education, awareness, and understanding of 2-1 this genetic disorder; it is indeed appropriate for the Lone Star 2-2 State to join with families and individuals throughout the country 2-3 in recognizing this important event; now, therefore, be it 2-4 RESOLVED, That the 74th Legislature of the State of Texas 2-5 hereby designate October 1995 and October 1996 to be Down Syndrome 2-6 Months in Texas and encourage their observance in communities and 2-7 public institutions throughout the state.

68. Excerpt | A Parent's Guide To Down Syndrome: Toward A Brighter Future, Revised E the genetic counselor often can tell parents whether the fetus does or does not havea specific genetic syndrome or chromosome disorder such as down syndrome. http://www.pbrookes.com/store/books/pueschel-4528/excerpt.htm

Learn More About This Book: Table of Contents Read an Excerpt: What are the indications for prenatal diagnosis? Related Titles: Adolescents with Down Syndrome: Toward a More Fulfilling Life The Special Child: A Source Book for Parents of Children with Developmental Disabilities, Second Edition Prenatal Diagnosis and Genetic Counseling Excerpted from A Parent's Guide to Down Syndrome: Toward a Brighter Future, Revised Edition, by Siegfried M. Pueschel, M.D., Ph.D., J.D., M.P.H., with invited contributors Material Alpha-Fetoprotein Screening and the Triple/Quad Tests In addition, ultrasound examinations of the fetus's neck (nuchal thickening), a series of measurements including the length of the upper arm bone (humerus) and thigh bone (femur), and the size of the head can assist in the prenatal diagnosis of Down syndrome. During the late 1990s, investigations revealed that ultrasound examinations together with maternal age and determination of the B unit of hCG and pregnancy-associated plasma protein A (PAPP-A) during the end of the first trimester can identify approximately 80% of fetuses with Down syndrome. Indications for Prenatal Diagnosis Some techniques used in prenatal diagnosis have an associated risk to both the mother and the fetus; therefore, specific indications for using these procedures should be present. Currently, several factors are associated with an increased risk for having a child with Down syndrome:

69. Company Template down syndrome, A group of genetic muscle disorders that slowly weakens and degeneratesthe A disorder of the central nervous system in which nerve cells in the http://www.dynavoxsys.com/company/media_center/disease_disorder_facts.html

Home Contact DynaVox Disease/Disorder Fact Sheet Amyotrophic Lateral Sclerosis (ALS) Commonly known as Lou Gehrig's disease, it is a fatal disease that attacks the nerve cells and pathways on the brain and spinal cord. As the nerve cells die, patients progressively lose voluntary muscle control and movement and eventually become paralyzed although their minds often remain sharp. Occurring in 2 out of every 100,000 people, its causes are unknown. Autism A neurological disorder occurring in varying degrees and types that severely affects the patient's ability to socially interact and communicate and relate to the outside world. Although it is thought to be a genetic disorder, the definitive cause is unknown. It is seen in 2 to 6 of every 1,000 individuals. Brain Injury A general term used to describe damage to the brain due to impact, internal damage or loss of oxygen. Some examples of causes include Shaken Baby Syndrome, penetrative brain injuries (i.e., gunshot), stroke, and carbon monoxide poisoning. Over 1.8 million Americans suffer or die from brain injuries every years. Cerebral Palsy A broad term used to describe a group of chronic disorders that impairs the ability to control movement and posture. The disorder usually appears in the first few years of life and does not worsen over time. It is caused by faulty development or damage to the motor areas of the brain. Over 500,000 Americans are thought to have some form of cerebral palsy.

70. Health Supervision For Children With Down Syndrome (RE0016) may be asked to counsel a family in which a fetus has a genetic disorder. In addition,parents may have received information from a down syndrome program, a http://www.aap.org/policy/re0016.html

Policy Statement Pediatrics Volume 107, Number 2 February 2001, pp 442-449 Health Supervision for Children With Down Syndrome (RE0016) AMERICAN ACADEMY OF PEDIATRICS Committee on Genetics ABSTRACT. These guidelines are designed to assist the pediatrician in caring for the child in whom the diagnosis of Down syndrome has been confirmed by karyotype. Although the pediatrician's initial contact with the child is usually during infancy, occasionally the pregnant woman who has been given the prenatal diagnosis of Down syndrome will be referred for counseling. Therefore, these guidelines offer advice for this situation as well. PDF FORMAT, 236K (get Adobe Acrobat Reader software) It is recommended to use this PDF file for printing this policy statement because of the graphics and the horizontal table layout. It will be printed as eight pages. Medical management, home environment, education, and vocational training can significantly affect the level of functioning of children and adolescents with Down syndrome and facilitate their transition to adulthood. The following outline is designed to help the pediatrician to care for children with Down syndrome and their families. It is organized by the issues that need to be addressed in the various age groups (see Table 1 Several areas require ongoing assessment throughout childhood and should be reviewed periodically at developmentally appropriate ages. These include the following:

71. Robert Beltran - Home Page Adults with DS may be at greater risk for Alzheimer's disease. Mythsand Facts MYTH down syndrome is a rare genetic disorder. FACT http://www.robertbeltran.com/down.html

Welcome Robert Beltran E-mail: rabeltran@sbcglobal.net

72. Blood Test For Down's Syndrome In First Trimester hormones, can give signs of down's syndrome in the first 14 weeks of pregnancy,earlier than nearly all other screening methods for the genetic disorder. http://www.gentlebirth.org/archives/downs14w.html

Blood Test for Down's Syndrome in First Trimester From: C-upi@clari.net (UPI) Subject: Two tests find Down's syndrome earlier Date: Wed Apr 01 15:05:44 PST 1998 UPI Science News BOSTON, April 1 (UPI) Scientists say a blood test can give pregnant women an early warning that they are carrying a baby with Down's syndrome. The test, which measures abnormal levels of pregnancy-related hormones, can give signs of Down's syndrome in the first 14 weeks of pregnancy, earlier than nearly all other screening methods for the genetic disorder. A second study reported independently today, showed that an ultrasound procedure developed in England can identify Down's syndrome and other fetal chromosomal abnormalities even earlier, in the first 10 to 14 weeks of pregnancy. Doctors at the University of California, San Francisco, say the ultrasound procedure measures the fluid accumulation in the neck of the fetus that causes the swelling that's characteristic of a chromosomal defect. In the first study, which involved 4,412 women, the scientists from

73. Genetic Diseases Deficit disorder Understanding Attention Deficit disorder DIABETES LINKS Diabetesgeneticsyndromes New down syndrome Targeted Nutritional Intervention The http://www.lincoln-academy.pvt.k12.me.us/libraryweb/Documents/class_connect/gene

Genetic Diseases - General Resources Genetic Web Sites Office of Rare Diseases: Site Index National Human Genome Research Institute Resources ... Search the NORD Databases Specific Genetic Diseases Addiction Genetic Factors Linkage Studies OTA Report: Biological Basis for Substance Abuse and Addiction Albinism International Albinism Center NOAH-What is Albinism? Alcoholism Excerpts from Understanding and Overcoming Alcohol Dependence Alzheimer's Genetics/Alzheimer's Attention Deficit Disorder Attention Deficit Disorder Attention Deficit Disorder: Beyond the Myths Perspectives on Attention Deficit Disorder Understanding Attention Deficit Disorder Blindness Select Entries from OMIM Online Mendelian Inheritance in Man Cancer Genetics Information for Health Professionals NCI's CancerNet Cancer Information OMIM Home Page Online Mendelian Inheritance in Man Cystic Fibrosis Cystic Fibrosis Foundation http://www.dircsa.org.au/pub/docs/facthunt.txt Depression Clinical Depression Mood Disorders Research PsychREF(tm): Resources in Psychology on the Internet [Pt. 3b] Diabetes AADE DIABETES LINKS Diabetes-Genetic Syndromes New Gene Linked To Type II Diabetes Down's Sydrome Down Syndrome Targeted Nutritional Intervention The National Down Syndrome Society Duchenne Muscular Dystrophy Are clinical trials of cell transplantation for Duchenne Muscular Dystrophy ethical?

74. Internet Public Library Genetic Disorders and learning problems associated with down syndrome; sponsors internationally supportand encouraging research of Marfan syndrome, a genetic disorder of the http://www.ipl.org/div/aon/browse/hea14.34.00/

75. 2 Questions About Down Syndrome down syndrome (DS) is a genetic disorder that is caused by an extra chromosome21 that is present in all or some of the individual's cells. http://www.pediatricservices.com/answers/015-2down.htm

Your Questions, My Answers Features of Down Syndrome When a visitor sends me a question of general interest, I will share that information with all visitors. In the interest of privacy, no names will be revealed here without the permission of the person who asked the question. To ask a question, click here Julie Loe Question: My 1 month 1week old baby girl might have Down Syndrome. They said she has "features". I have to take her for a blood test to determine if she has it or not. Does this mean she just has features and no other medical problems? Answer: The simple answer is no. The distinct features of a child with Down Syndrome, whether great or small are not an indication of which other features of the syndrome are present , or the other features severity. I have attached some additional information and resources for you regarding Down Syndrome, and also links for new mothers. Also, I don't want to make the assumption that you have been introduced to Early Start Services. It is very important that you baby get the additional help she will need to acquire developmental milestones. If you tell me what state you live in I will give you a contact to initiate services.

76. Postdoctoral Research Training 6th month of life, as happens in both down syndrome and Alzheimer's develop specifictreatments to lessen the phenotypic consequences of this genetic disorder. http://www.uchsc.edu/sm/psych/postdoc/fcrnic.html

Linda S. Crnic, Ph.D. Linda.Crnic@UCHSC.edu Work in Dr. Crnic’s laboratory focuses on genetic causes of cognitive dysfunction. Mouse models of Down syndrome, fragile X syndrome glutaric acidemia and homocystinuria are currently under study. The goal of the Down syndrome project is to determine the genes responsible for the cognitive phenotype of Down syndrome. The mouse model used, the Ts65Dn mouse, shows cognitive deficits similar to those of humans with Down syndrome. In addition, medial septal cholinergic neurons are lost by the 6th month of life, as happens in both Down syndrome and Alzheimer's disease. Thus, this mouse model, combined with a variety of transgenic and knockout mice are a valuable tool for determining the genes responsible for the phenotype. The ultimate goal of this work is to develop specific treatments to lessen the phenotypic consequences of this genetic disorder. Work on the model ranges from behavioral to molecular. The fragile X syndrome project seeks to define the behavioral phenotype so that pharmacologic and genetic treatments can be screened. In glutaric acidemia, a metabolic crisis early in life results in the death of many striatal neurons. The goal of current studies is to determine the mechanism of the cell loss so that preventive treatments can be selected. Recent Publications: 1. Tassone, F., Lucas, R., Slavov, D., Kavsan, V., Crnic, L., and Gardiner, K.

77. Alfigen/The Genetics Institute | Patient Information | Amniocentesis time of delivery The risk of having a child with down syndrome or other Parents arecarriers of a prenatally diagnosable genetic disorder These couples have an http://www.alfigen.com/patient-amniocentesis.htm

Amniocentesis What is Amniocentesis? Amniocentesis is a procedure where a small amount of amniotic fluid (fluid surrounding the developing baby) is removed from the uterus through a thin needle, using ultrasound guidance. This procedure is typically performed during 15 to 20 weeks of pregnancy. It can be done as early as 12 to 14 weeks and as late as near term. Some women say amniocentesis does not hurt, while others say they feel pressure or a cramp. What Tests can be Performed on Amniotic Fluid Specimen? Different tests can be done on amniotic fluid, the most common tests are listed below. Chromosome analysis to detect chromosome abnormalities such as Down syndrome, which is caused by an extra copy of chromosome 21. Individuals with Down syndrome have three copies (trisomy) instead of the normal two copies of this particular chromosome. AFP (alpha-fetoprotein) and AChE (acetylcholinesterase) measurements to detect neural tube defects such as spina bifida and anencephaly. In spina bifida there is an opening in the back/spinal cord, usually requiring multiple surgeries, and may be associated with physical disabilities. In anencephaly the brain development is incomplete, usually resulting in death. Genetic diseases that can be diagnosed prenatally, including cystic fibrosis, fragile X syndrome, hemophilia, sickle cell disease, thalassemia, and Tay-Sachs disease.

78. Media RelationsNews Releases increased reproductive risk for a conception with a genetic disorder because of thesecond trimester that screens for spina bifida, down syndrome and other http://www.northwestern.edu/univ-relations/media/news-releases/1998-99/*scimed/b

CONTACT: Elizabeth Crown at (312) 503-8928 or by e-mail at e-crown@nwu.edu FOR RELEASE: Immediate Combined Use of New, Non-Invasive Screening Techniques in First Trimester of Pregnancy May Yield Earlier Evidence of Fetal Birth Defects CHICAGO - First-trimester tests for two proteins in the blood of pregnant women, combined with ultrasonography measurements of fetal neck skin, may provide the earliest diagnosis yet of fetal birth defects in at-risk women. The combined-risk assessment method has an estimated detection rate of Down syndrome of about 90 percent and is completely non-invasive. Northwestern University Medical School researchers are evaluating the combined-risk assessment method, factoring in duration of pregnancy and maternal age at the time of screening, to determine the test's value in predicting fetal abnormalities. The National Institutes of Health-sponsored study also will assess if such a screening system could be implemented nationwide. "Overall, we may end up with an earlier test (first vs. second trimester), with a higher detection rate (90-plus percent vs. 60 percent), doing less-invasive procedures and losing fewer normal pregnancies than might have been lost as a direct consequence of invasive procedures," said Eugene Pergament, M.D., principal investigator on the study and a professor of obstetrics and gynecology and director of the reproductive genetics program at the Medical School. Birth defects such as Down syndrome occur more commonly in pregnancies in women aged 35 and older. For women at advanced maternal age, two procedures, chorionic villus sampling (CVS) in the first trimester (first 12 weeks of pregnancy) and amniocentesis in the second trimester (12 to 24 weeks of pregnancy), are offered. The accuracy of CVS and amniocentesis is very close to 100 percent. However, both procedures carry a risk of losing the pregnancy because they are invasive.

79. Welcome To Kohai Educational Centre A nondenominational, co-educational centre providing intensive remedial education for students with neurodevelopmental and genetic disorders (PDD, Autism, down syndrome, LD, ADD, ADHD)from age 2 to adult. http://www3.sympatico.ca/kohai

80. Special Child: Disorder Zone Archives Asperger syndrome Attention Deficit Hyperactivity disorder Autism Cerebral s syndromeDiGeorge/Velocardiofacial syndrome down syndrome Fetal Alcohol http://www.specialchild.com/disorder.html

Disorder Zone Archives Angelman Syndrome Apert Syndrome Arthrogryposis Multiplex Congenita Asperger Syndrome ... Williams Syndrome The Disorder Zone has been created for educational purposes only and is not intended to serve as medical advice. The information provided in The Zone should not be used for diagnosing or treating a health problem or disease. It is not a substitute for professional care. If your child has any health concerns, please consult your health care provider. Welcome Editor's Note Success Stories Horror Stories ... The Resource Foundation for Children with Challenges By using Special Child and related services, you agree to abide by the terms and conditions

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