The Common Genetic Birth Defects

Early beliefs suggest that the relationship was rare (Rutter and Hersov 1985). Warner et al (2014) emphasise that the most recent research shows otherwise and there is now a significant minority of patients with DS that make the diagnostic criteria for ASD. Moss et al (2013) state that these patients present with stereotypical behaviours which includes over activity, impulsivity and self-injurious behaviour. This could be a resulting factor as to why children and young people with learning disabilities (LD) have greater hospital admissions an greater lengths of hospital stay than children without LD (Oulton (2013). McDowell and Craven (2011) say that children with DS on average spend 2–3 times more time in hospital than those without Down’s syndrome.

. Down syndrome is not a disease that someone catches and is not caused by difficulties during the pregnancy, it is a genetic condition. This condition is caused by the presence of an extra chromosome in the body’s cells and causes a redundant amount of proteins to be formed. All cells of the body derive from a single cell formed by the fusion of a father’s sperm and a mother’s egg. Each cell carries a nucleus full of genetic material known as genes. These genes are inherited from both the mother and father. Each cell normally contains 46 pairs of chromosomes. 23 chromosomes come from one parent and 23 from the other, hence the 46 pairs. When it comes to children with down syndrome, one of the chromosomes does not separate properly and so the

Downs syndrome-anyone who has downs syndrome is likely to have some level of learning disability, usually children are able to do the majority of tasks themselves, however they may reach certain milestones slightly later than some of their peers. ADD/ADHD-children with this diagnosis can suffer with many difficulties as they grow, they may be irritable, can be

Down syndrome is a birth defect caused by a genetic disorder that affects 350,000 people in the United States. It is caused by abnormalities in the genes and is not inherited, meaning that parents do not pass this onto their children. Genetics is the study of heredity or how certain traits are passed from parents to their children. Genes are the basic unit of heredity. Cells are the building blocks of your body and each one of us has more than 100 trillion cells. Our genes are located in chromosomes. Each cell in your body contains 46 chromosomes or 23 pairs. In a person with Down syndrome, there are 47 chromosomes. In 1956, a French researcher named Jerome Lejeune used a new powerful microscope to view human strands of DNA. DNA is what

Diagnostic and Statistical Manual of Mental Disorders (DSM) is a guidebook used by health care specialists in the United States to diagnose mental disorders. DSM incorporates numerous disorders and their description, symptoms, and other criteria for diagnosing mental disorders. The DSM was recently revised to better characterize symptoms and behaviors of groups of people who are currently seeking clinical help but whose symptoms are not well defined by DSM-IV. For example, the first category of disorders it mentions are Neurodevelopmental Disorders. Neurodevelopmental Disorders are the deterioration of the growth and development of the brain and central nervous system. It is a group of conditions with an outbreak in the developmental system. These disorders usually begin early in development about when a child starts grade school and are recognized when the child lacks personal, social, academic, or occupational functioning. The spectrum of developmental deficits differ from very distinguishing limitations of acquiring information or restraining of manageable activities to overall impairments of social skill and intellect. All disorders are distinctive in their own way. For some Neurodevelopmental Disorders, they have an excess of symptoms while having deficits in others. For example, for those who are diagnosed with Autism Spectrum disorder, usually have deficits in social interaction/communication and their restricted and repetitive practice while having an excess of

The etiology of Down syndrome is due to a genetic mutation within chromosome 21. There are three types of Down syndrome, which include Trisomy 21, Mosaic Down Syndrome, and Translocation Down Syndrome. Trisomy 21 occurs when there are three copies of chromosome 21 in each nucleus, instead of the usual two. This type of Down syndrome occurs 95% of the time. Mosaic Down Syndrome occurs 1% of the time and is characterized by some cells having three pairs of chromosome 21 and others having the normal two. This is caused by abnormal cell division after

Down Syndrome is a genetic disorder that occurs when a persons 46 chromosomes abnormally divides into 47 chromosomes, creating a full or partial 3rd copy of the chromosome 21.

While it is the most common birth defect, the Cleft Palate is not something commonly known until it has been experienced by you or someone you know. Statistics show that is occurs in one in 700 babies worldwide. It is a congenital birth defect in the upper part of the mouth where the roof of the mouth is not joined together, ultimately affecting the shape and function of the mouth. Doctors do believe that genetics and environment both affect the fetus during early pregnancy and cause this condition to occur. Treatment is possible both after birth and throughout a child’s lifetime through surgery and then therapies. Children who do not have access to cleft palate surgery, run the risk for hearing, speaking, social and academic difficulties,

1 in 150 babies is born with a chromosomal condition, otherwise known as a genetic condition because chromosomes hold genes that instruct the body on how to grow and function. These chromosomal conditions can be caused by an alteration in the number of chromosomes an embryo has. Each person has 23 pairs making 46 individual chromosomes, too many or too few chromosomes can result in abnormality. A condition resulting from this kind of alteration is Down syndrome, in which a pair of chromosomes contains one extra chromosome. Down syndrome, along with other conditions resulting from too many or too little chromosomes can result in mental retardation and physical defects. Chromosomal conditions can also be caused by a change in the structure of a chromosome. Parts of the chromosome can be missing, repeated, or rearranged in a way that can cause abnormality. An example of this condition is Fragile X syndrome, in which one segment of a gene is repeated 200 times as opposed to 5 to 40 times. These alterations of chromosomes can be inherited from the

Symptoms of this disorder include clumsiness, difficulties with fine and gross motor skills, as well as sensory integrative dysfunction (Missiuna, p. 2). Physical characteristics the child may exhibit are delayed movements, difficulty learning new motor skills, problems with balance, and difficulties with skills that involve constant feedback to plan new movements such as printing or handwriting (Missiuna, p. 3). Children with DCD must overcome individual constraints when it comes to any task. They commonly have low muscle mass and low muscle tone, reduced motor control, and lack body awareness (Missiuna, p. 3). As for emotional characteristics, children with DCD often show little interest in activities that demand a physical reaction, demonstrate frustration, low self-confidence, and a lack of motivation (Missiuna, p. 3). Functional constraints they regularly struggle with include difficulty judging distance of objects, planning and execution of tasks, attention, and anxiety (Barnhart, 2003, p. 725).

While some kids with DS have no significant health problems, others may experience a host of medical issues that require extra care. For example, almost half of all children born with DS will have acongenital heart defect.

Down syndrome (trisomy 21) is a chromosomal abnormality - change in the number of chromosomes, which lead to physical or mental abnormalities - caused by an error in cell division that is a result of having an extra 21st chromosome. 95% of the time the trisomy is mainly due to an abnormality of the egg of a mother, during fertilisation the 23 chromosomes from

Down syndrome is characterized as a chronic genetic chromosomal disorder which alters one’s cognitive growth, intellectual development, and physical characteristics. This extremely widespread condition is most prominently existent in human beings whose genetic makeup is composed of an additional copy of chromosome 21. Additionally, these human beings are known for acquiring 47 chromosomes rather than the conventional 46 chromosomes. This chromosomal abnormality is extremely common, yet highly spontaneous. To illustrate, the prevalence of Down Syndrome is exhibited as around

Down syndrome is a congenital disorder arising from a chromosome defect, the chromosome causing the problems is Chromosome 21. This disorder affects about 1 in 700 births in the United States. Currently there are about 400,000 Americans that have Down syndrome, with approximately 6,000 babies are born with Down syndrome each year. The disorder forms during fertilization or soon after fertilization. Fertilization occurs when the sperm binds to zona pellucida, then the sperm undergoes acrosome reaction which will lyses a hole in zona pellucida, and then the sperm and egg membrane fuse. Once the membranes fuse, the sperms genetic material gets released and gets combined with the egg’s chromosomes, thus resulting in a 46 chromosome fertilized egg.

Down syndrome is a genetic disorder in which a person is born with an extra copy of chromosome 21. There are three genetic variations that cause Down syndrome: Trisomy 21, Mosaic Trisomy 21 or Translocation Trisomy 21. There are many ways in which theses disorders affect the body.  Trisomy 21 occurs when an egg or sperm comes in with an extra copy of chromosome 21, then, once an embryo is formed and starts to develop, the chromosome is replicated in every single cell of the embryo. Trisomy 21 is the most common type of Down syndrome. About 92% of Down syndrome patients have this type. People with Trisomy usually have physical problems.