CHARGE syndrome, a term describing infants and young children born with severe abnormalities ( British Medical Journal, Vol. 304, No. 6840), occurs in one of about nine to ten thousand births and involves both physical and medical disabilities that differ between different children. In a majority of cases, CHARGE syndrome may not be found in any previous family medical history. Breathing problems and heart defects are examples of some life-threatening birth defects that are associated with CHARGE syndrome. Multiple surgeries and treatments are conducted after staying in hospitals for months; life at home may be hard for the patients if they encounter health issues such as difficulty breathing and swallowing. Delayed development as well as …show more content…
CHD7, a gene that has the role of turning other genes “on and off”, is the most common gene mutation that causes CHARGE, but other genes may also be mutated and have similar effects (CHARGE Syndrome Foundation, 1993-2015). CHD7, after further evaluations and genetic studies, was established as a vertebrate development regulator (Karim Bouazoune and Robert E. Kingston, 2012). After previous studies, results concluded that CHD7 functions as a regulator for both nucleoplasmic and nucleolar genes, paving a path into the investigation of pathogenesis in CHARGE syndrome (Chapter 1, Paragraph 3). Due to the birth defects caused by the gene mutation of CHD7, the name of this condition was given as the following: “Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and development, Genital and urinary abnormalities, and Ear abnormalities and deafness” (CHARGE Syndrome Foundation, …show more content…
Studies that were aimed to find the relationship between specific phenotypic and genotypic traits were not conducted by an otolaryngologist’s position, causing a lack of a detailed analysis of the senses tested. The goal of these studies was to make a connection between the genotype and phenotype while respecting the radiologic, audiometric, vestibular, gustatory, and olfactory parameters. A careful and close observation of the CHARGE phenotype and CHD7 will result in a better prediction of the function and deficits of a newly diagnosed patient. The goal of this study was to correlate genotypic information with phenotypes and the following: assessment of temporal bones and cranial nerves by radiology; audiometric data; and vestibular, olfactory, and gustatory testing and evaluation (Assessment of the Sensory Deficits in Individuals with CHARGE Syndrome and Correlation with Genotypic Data,
Purpose- To identify the functions of the cranial nerve of the peripheral nervous system such as the olfactory, optic, oculomotor, trochlear, trigeminal, abducens, facial, vestibulocochlear, glossopharyngeal, vagus, accessory, and the hypoglossal nerves. I will examine these functions with a series of behavior tests on my partner who is Jazmine Cooley to see if all nerves are functioning properly and if they are not, then this will be considered an identified dysfunction of a cranial nerve which is a diagnosis.
Aside from the pedagogical implications of such a striking phenotype, many pioneering studies relating to PTC and the taster/non-taster phenotype have been conducted since its discovery (Wooding 2006). Directly after Fox presented his findings for the National Academy of Sciences, Blakeslee also presented his large-scale study of PTC inheritance within families and saw a similar phenomenon of taster and non-taster phenotypes. Furthermore, Blakeslee classified the tasters according to their taste acuity using dilutions at which the bitte...
Spina Bifida is the most common permanently disabling birth defect in the United States. It is a birth defect in which a developing baby's spinal cord fails to develop properly. The term Spina bifida comes from Latin and means "split" or "open" spine. This disorder occurs when the fetus is growing in the womb and its spine doesn’t form correctly. Some of the vertebrae don’t close to make their normal ring shapes around the spinal cord. This defect happens at the end of the first month of pregnancy, when a baby's spine and spinal cord are developing. Causes of Spina Bifida Causes that cause this disorder are low levels of the vitamin folic acid during pregnancy. Not having enough folic acid in the diet before and during early pregnancy can increase a woman's risk of Spina bifida and possibility of other neural tube defects. A high fever during pregnancy may increase a woman's chance of having a baby with Spina bifida. Some evidence suggests that genes may be a cause of Spina Bifida, but most babies born with Spina bifida have no family history of the condition. Also, women with epilepsy
Most serious structure with regards to Osteogenesis Imperfecta , the greater part of these cases are endless in great conditions, which means the vast majority of the cases wind up in premature birth by the guardians or unnatural birth cycle by nature . In any case, a portion of the uncommon cases that do survive present breathing challenges much of the time deadly at or soon after birth, regularly because of respiratory
Wolf-Hirschhorn syndrome (WHS), first described by Wolf et al[1] and Hirschhorn et al[2], results from the hemizygous deletion of the distal short arm of chromosome 4. Due to the complex and unmarked expression of this disorder, the WHS syndrome is presumed to be a contiguous gene syndrome with an indeterminate number of genes responsible for the phenotype i.e. a multigenic etiology. [3][4]
Sufferers feature severe cranial and facial deformities. The ears may be very poorly developed or absent entirely, as may the nose. The eyelids may be everted, which leaves the eyes and the area around them very susceptible to infection. Babies with this condition often bleed during birth. The lips are pulled
The occurrence of synaesthesia in the adult population has been estimated between 1 in 2,000 and 1 in 25,000. There has been evidence that women are more likely to have it, with around six times more females than males. Findings state there can be a genetic predisposition transmitted by an X-linked autosomal dominant gene. Through the more recent studies of synaesthesia they have researched a possible biological cause instead of damage to the brain. One of the propositions is the connectivity between brain areas that help to further the relevant sensory modalities. For example, color-phonemic synaesthesia might result from additional synaptic connections between brain regions that are responsible for processing auditory inputs and those involved in color perception.
At birth the neonate goes through many physical changes (Fraser & Cooper, 2009). The most dramatic and difficult being when the newborn takes its first breath (Meeks & Hallsworth, 2010). This breathing triggers change within the heart, lungs, blood flow and every other system of the neonate (Coad & Dunstall, 2009). During the first few minute until 6 hours of life, the neonate is considered to be transitioning from intrauterine to extra-uterine life (Sinha, Miall, & Jardine, 2012). It is within this time that the neonate needs close observations to evaluate their progress into their new life, thus showing the importance of newborn examinations within neonatal care (Fraser & Cooper, 2009).
This can be diagnosed during the pregnancy or after the baby is born. “Anencephaly would result in an abnormal result on a blood or serum screening test or it might be seen during an ultrasound.” This birth defect is more common in girls than boys. There is also no cure or standard treatment since most die shortly after birth. As a way to offer support to these families, many hospitals offer perinatal hospice care. A perinatal hospice approach helps these families through the process: pregnancy, birth, and death. ("Facts about
According to Lucile Packard Children’s Hospital, “In the United States, nearly thirteen percent of babies are born preterm, and many of these babies also have a low birth weight.” The baby may be put into the NICU for varies reasons. However, the most common reason that a child is put into the NICU is because he or she is premature. Premature means the baby was born before the 36 weeks. It is never good for a baby to be born early, as this could mean that the baby is not fully developed. There are other factors as to why a child may need to be put into the NICU after birth. For instance, birth defects can be the cause of why a baby is put into the NICU. A baby may be born with an infection such as herpes or chlamydia which can damage the newborns immune system at such a young age. Low blood sugar or hypoglycemia can also cause an infant to be put into the NICU. Some maternal factors of why a baby may be put into the NICU is if the mother is “younger than 16 or older than 40.” If the parent may be an alcoholic or expose the baby to drugs, this can put the child into NICU care. If the parent has an STD or sexual transmitted disease, the baby is most likely going to have to be put into the intensive care unit. “Twins, triplets, and other multiples are often admitted into the NICU, as they tend to be born earlier and s...
According to Hassold and Sherman (2002), the probability of giving birth to a child with DS is not linked to any race, ethnicity, socioeconomic status or geographic location. Maternal age seems to be the only etiological factor that may cause DS. Some characteristics of DS include: deep folds at the corners of the eyes, hypotonia, short stature, flexible joints, small oral cavity and heart defects (Taylor, Richards, & Brady, 2005). Most individuals with DS have a moderate intellectual disability, although there is a range of disability, from severe to high functioning (IQ above 70). Since DS is a birth defect and not a disease, there are no treatment options.
The neurological disorder is generally diagnosed in children aged between six and twelve years, the condition affecting boys three times more often than girls (Hamilton, 2002; Gardner, 2008). Despite the fact that DCD affects roughly 6.4 percent of children, few individuals are familiar with the condition (Hamilton, 2002). In fact, a study by Kirby, Davies, & Bryant (2005) revealed that only 54.3% of teachers and 26.7% of general practitioners could accurately define DCD (p. 124). In response, the condition will be briefly outlined here.
Epilepsy is a condition characterized by recurrent seizures which are unprovoked by any immediately identifiable cause (Hopkins & Shorvon, 1995). It is also known as a seizure disorder. A wide range of links and risk factors are associated with the condition, but most of the time the cause is unknown. Epilepsy is one of the most common neurological disorders, affecting approximately two and half million people in the US and about 50 million worldwide. Though seizures can occur at any age, epilepsy is most commonly seen in children and the elderly. Most respond well to treatment and can control their seizures, but for some it is a chronic illness. A clinical diagnosis is the first step to finding a potential cure for the disorder.
Girls with this syndrome may have many middle ear infections during childhood; if not treated, these chronic infections could cause hearing loss. Up to the age of about 2 years, growth in height is approximately normal, but then it lags behind that of other girls. Greatly reduced growth in height of a female child should lead to a chromosome test if no diagnosis has already been made. Early diagnosis is very importance in order to be able to give enough correct information to the parents, and gradually to the child herself, so that she has the best possibilities for development. Early diagnosis is also important in case surgical treatment of the congenital heart defect (seen in about 20 per cent of cases) is indicated.
Treacher Collins syndrome also has a diagnosis like the other ones but it can be discovered when the baby is in the stomach but it relies on clinical radio graphic findings. Sometimes the signs of this syndrome can be found when the baby is in the stomach. To be diagnosed the doctor would have to examine the baby carefully so signs are discovered. It is suspected to be a ribosomopathy (Any disease or malfunction of ribosomes or cell organelles that consist of RNA and proteins ), where a genetic abnormally causes impaired ribosome biogenesis & function resulting in a special clinical prototype.