Child With Spina Bifida Essay

Case study #2: Child with Spina Bifida, Myelomeningocele, Chiari II Malformation, and Hydrocephalus

ORDER  HERE A PLAGIARISM-FREE PAPER HERE

Drew is admitted to the neonatal intensive care unit (NICU) immediately after delivery. The admitting diagnosis is a neural tube defect. Drew was full term at birth, with a birth weight of 3.2kg (50th percentile) and length of 19.8 cm (50th percentile). Drew’s mother is a 37 year old with a history of three miscarriages. Drew is her first child. The pregnancy was a “surprise,” and the mother was not aware she was pregnant until 12 weeks post-conception. She was financially unable to receive consistent prenatal care and has had no prenatal screening. Upon admission to the NICU a complete evaluation of the defect is performed. Spina bifida cystica is visible at birth. When the defect is accompanied by a Chiari II malformation, resulting hydrocephalus is expected and signs of increasing ICP are assessed. The neonatologist will perform a complete examination of Drew to evaluate the lesion (sac on back), nerve involvement, and degree of motor and sensory function. Child With Spina Bifida Essay

1. The following are the physical examination findings. Identify what these findings indicate:
1. The defect is located at the level of the lumbar spine (L1).
2. The sac is intact, without CSF leakage.
3. The cranial sutures are expanded.
4. The anterior fontanel is bulging.
5. The head circumference is 37.5cm.
6. The lower extremities are atrophied.
7. Muscle tone of the lower extremities is poor (limp and flaccid)
8. The bladder is full and tense. Child With Spina Bifida Essay

2. Drew is scheduled for surgical closure of the sac the following day. The NICU staff begins preoperative care measures for prevention of the infection. The focus of the preoperative care for the neonate or the child with myelomeningocele is on maintaining integrity of the sac to prevent CSF loss and infection (meningitis).

The following care interventions are instituted. Provide a rationale for each intervention.
a. Position the neonate on the abdomen.
b. If the child is prone, place a cloth roll under the hips.
c. h. Intermittent urinary catherization is performed.
d. There is assessment for signs and symptoms of meningitis.

3. Explain the additional preoperative care considerations for Drew:
a. Nothing by mouth (NPO)
b. Fluids at two-thirds maintenance rate.
c. Latex precautions
d. Neurologic assessment every 2 hours.

4. Could the defect have been detected before delivery (prenatal diagnosis)? Child With Spina Bifida Essay

Spina bifida is a birth defect involving the incomplete development of the spinal cord or its coverings. Normally, it occurs towards the end of the first pregnancy a time when both sides of the embryo’s spine do not succeed to join together thereby resulting in an open area. There are also cases when the other membranes or the spinal cord may push through this opening in the back. This condition however is detectable before the baby is born and it can be treated right away. It is the most common of a group of defects known as neural tube defects which basically is the structure of the embryo that develops into the spinal cord and brain.
– Types of Spina Bifida
Causes of spina bifida are unknown although some evidence suggests that there is a possibility of genes playing a role, where in most cases there is no familial connection. During pregnancy, a high fever could increase chances of a woman having a baby with spina bifida. Also, there is an increased risk of having a baby with spina bifida particularly for women with epilepsy who have taken the valproic acid drug to control epilepsy. There are two forms of spina bifida; spina bifida manifesta and spina bifida occulta (Diseases 135). Child With Spina Bifida Essay
Spina bifida occulta; It is actually the mildest form of spina bifida. The term ’Occulta’, means hidden, which means that the defect is not open but covered with by the skin. The majority of the children with this particular condition do not have health problems and their spinal cord is usually unaffected. If the hidden defect is severe, some may have numerous symptoms.

Spina bifida manifesta; This type includes,
Meningocele; This defect involves ‘meninges’, the membranes responsible for protecting and covering the spinal cord and the brain. If in the vertebrae the meninges push through the hole, then this defect is formed. Child With Spina Bifida Essay
Myelomeningocele; This is actually the most severe form of spina bifida which occurs when the spinal cord pushes through and the meninges push through the hole in the back. The majority of the babies born with this type of spina bifida also has a certain fluid accumulating around and in the brain. Due to the damage done and the abnormal development of the spinal cord, a child suffering from myelomeningocele normally has some kind of paralysis. Seemingly, the degree of this paralysis mainly depends on the particular area in the spine where the opening occurs. The more severe the paralysis tends to be, the higher the opening. Most often, children with spina bifida have problems with bladder and with bowel control, while others seem to have attention deficit hyperactivity disorder (ADHD) including other difficulties associated with learning such as eye and hand coordination problems. Spina bifida could cause intellectual and physical disability which ranges from mild to severe. However, its severity majorly depends on whether part of the nerves and spinal cord are affected, and the location and size of the opening in the spine (Ö̈zek 117). Child With Spina Bifida Essay

ORDER  HERE  NOW

– Causes
Causes of spina bifida have not been understood yet. During the 1st month of life, the baby developing in the womb ‘embryo’ develops a structure known as the neural tube which eventually forms the nervous system and the spine. Scientists believe that both environmental and genetic factors act together to causing this disorder as well as other NTDs. Studies show that 95% of babies with this disorder are normally born to parents who have no family history of these disorders. In addition, women with diabetes or those who are obese are more likely to bear a child with spina bifida. However, there are risk factors that have been identified; the most significant of them is the lack of folic acid before and during the first phase of pregnancy. Possible complications associated with spina bifida results from the production of too much amniotic fluid which is caused by swallowing reflex of the baby. If the water breaks and comes out fast, there are increased chances of placental abruption. Child With Spina Bifida Essay
– Symptoms
A child’s symptoms largely depend on how severe the defect is. With a mild defect, a child could develop symptoms or problems or they could also have a birthmark, a dimple or a hairy patch on their back. In severe cases, nerves may come out of the child’s back or swelling on the spine. Children with severe defects could have nerve damages which could affect their daily lives. Additionally, these children could have no or little feelings in the feet, legs or arms and also, they could not be able to move those ill parts of the body. Children who are born with a severe defect are in some cases born with fluid build-up in the brain which is known as hydrocephalus. After birth, these children could have problems which could cause intellectual disability, seizures or sight problems. In some cases, some children get ‘scoliosis’ a curve in the spine. Child With Spina Bifida Essay

Major symptoms of spina bifida are;
– Reduced sensation particularly in the lower body, feet and legs causing leading to pressure sores and possibility of burns
– Arnold Chiari malformation and hydrocephalus
– Learning difficulties
– Degree and types of urinary incontinence
– Types and degrees of urinary incontinence
– Abnormal joints
– A degree of paralysis of the lower body and legs
– Diagnosis
Spina bifida can be diagnosed during pregnancy or probably after the baby is born. During pregnancy, screening tests serve as prenatal tests to check for birth defects including spina bifida. Among these prenatal tests are;
AFP-AFP: This stands for alpha-fetoprotein, a certain protein that is produced by the baby. It is a simple blood test which measures the amount of AFP passed into the mother’s bloodstream from the baby. In addition to that, a high level of AFPA could mean that the baby really has spina bifida. Child With Spina Bifida Essay
Ultrasound: An ultrasound is basically a type of picture of the baby. There are cases when the doctor can find reasons that there could be a high level of AFP or can actually see if the baby has spinal bifida. After this diagnosis, spinal bifida can be seen frequently with this test.
Amniocentesis: For this test, the physician or doctor takes some sample of the amniotic fluid which surrounds the baby in the womb. The baby could have spina bifida if there are higher than average levels of AFP.

After the Baby is born
Spina bifida in some cases might not be diagnosed until the baby is born. A doctor could use an image scan like the MRI or the X-ray to view the baby’s bones in the back and spine better if there is a hairy patch of a dimple or skin on the back of the baby. In other cases, spina bifida is not diagnosed until the baby is born for reasons that an ultrasound did not show clear pictures of the particular part that is affected by the spine. Child With Spina Bifida Essay
– Treatment

Treatment options include;
– Surgery – could be used to reduce the risk of infection and close the lesion
– Shunt Insertion – Hydrocephalus is treated by inserting a tube known as a shunt into the ventricles in the brain. This is where spinal fluid is produced which allows excess cerebro-spinal fluid out of the brain .
– Bladder surgery – this operation is done to tighten muscles and increase bladder size
– Orthopedic surgery – children with spinal bifida normally undergo operations of the feet and legs in order to improve mobility (Watson 341).
A number of different treatments can be used to treat conditions or symptoms associated with spina bifida. Though not all people born with spinal bifida have the same needs, treatment is different for each individual. Certain people have more serious problems than others. Treatment options include; Child With Spina Bifida Essay
Occulta; There is no treatment for this condition. However, the majority of individuals never realizes that indeed they are affected unless they are diagnosed for some other reasons during an X-ray. Surgery is occasionally recommended to prevent these problems.

Meningocele; This defect is surgically prepared and affected babies normally have no paralysis.
Myelomeningocele; It requires surgery within 24-48 hours after birth. Physicians and doctors insert the exposed spinal cord and nerves back inside the spinal cord while covering them with skin and muscle. Punctual surgery assists in preventing additional infection and nerve damage. Immediately after the surgery, a physical therapist teaches parents various ways of exercising their baby’s feet and legs in order to prepare for walking with crutches and leg braces. Child With Spina Bifida Essay

Prevention
Vitamin AB also known as folic acid can greatly help in preventing spina bifida as well as other NTDs. Eating healthy includes, eating certain foods that are fortified with foods and folic acid which contain foliage (natural form of folic acid which is found in foods). Women with babies with spina bifida ought to consult a health care provider before getting pregnant for a second time about the exact amount of folic acid to take. Persons with this disorder ought to take 400 micrograms of folic acid each day. Women who at one time had a pregnancy affected by spina bifida ought to talk to their doctor concerning a prescription to take 4,000 mg. In some cases, folic acid has been found to prevent spina bifida. Individuals with medical conditions such as obesity and diabetes should ensure that it is under control before getting pregnant. People are advised to avoid overheating their bodies like in saunas or when using a hot tub (Wynbrandt 412). Child With Spina Bifida Essay

Things to Remember
Spina bifida is among the most common birth defects with a worldwide incidence of 2 cases per one thousand births on average. It happens in the 1st few weeks of pregnancy just before a woman is aware of her pregnancy. Though folic acid does not guarantee that a woman would have a healthy pregnancy, taking folic acid could greatly help in reducing the chances of having a pregnancy that is affected with spina bifida. Since most of the pregnancy is un-planned, it is of paramount importance that every woman who becomes pregnant takes folic acid during pregnancy and before pregnancy.

There are four stages of early embryonic development that takes place as soon as fertilisation takes place. These stages are morula, blastula, gastrula and neurula stages, where important morphogenic changes take place, in creating all the essential layouts and plans for later embryonic development. Such as body plan axis, germ layers and CNS (Central Nervous System).Child With Spina Bifida Essay  Failure can occur within any of these stages that lead to very serious consequences, such as Spina bifida (SB), which is caused by the failure of neural tube closure in neurulation. It is estimated that 5%-10% of the population may have spina bifida without realising, and the most severe form of spina bifida is very rare, in affecting around 1 out 2,000 pregnancies. The neural tube is the precursor of the brain and spinal cord. It is formed from the ectoderm region of the germ layer, which consists of endoderm, mesoderm and ectoderm. In normal embryogenesis, the neural tube is made by the bilateral folding of the neural plate, where folds elevate and come into contact in the midline and fuse to create the neural tube. This process consists of cellular events and precise molecular control, to create the initial structures for the brain and spinal cord. Errors that occur in these events and controls lead to neural tube defects (NTD). NTDs include, Anencephaly, which is where the head end of the neural tube fails to close, leading to stillborn due to absence of main part of forebrain, Encephaloceles, Hydranencephaly, Iniencephaly and spina bifida, which is the failure of closure at the lower back region which usually leads to problems with walking, amongst other issues. Spina bifida can range from mild, where it’s usually accidentally identified, to severe as it affects the nerves and therefore leads to complications. There are two types of Spina bifida; Spina bifida cystica (SBC) and spina bifida occulta (SBO). Spina bifida cystica has two subsets, which are Meningocele and Myelomeningocele. SBO is the mildest form of SB, the spinal cord does not protrude so the skin appears normal, but might be characterised by hair growth there, a dimple or birthmark. This is diagnosed from spinal x-rays, to identify the splits in the vertebrae as it hadn’t closed properly during neurulation. Meningocele SBC is the least common form of spina bifida, where the meninges herniate between the vertebrae but doesn’t damage the nervous system. Myelomeningocele SBC results in the most severe complications as it affects the meninges and nerves. Unfused part of the neural tube protrudes through an opening. A sac is present at the site containing spinal parts such as cerebrospinal fluid and parts of the spinal cord. 68% of children who have spina bifida, also presents a latex allergy. This essay with be going into the details of processes that occurs, that leads to spina bifida and its functional consequences, also what clinical therapies can be proposed to prevent or treat spina bifida. Child With Spina Bifida Essay

Cellular and genetic processes

There are multiple cellular events and molecular processes that take place in controlling the morphogenesis of the embryo in creating the neural tube. Cellular events include, convergent extension, apical constriction and interkinetic nuclear migration, and the precise molecular control that takes place are, non-canonical Wnt pathway (planar cell polarity pathway), SHH/BMP signalling and the control of transcription factors like Grhl2/3, Pax3, Slug and Zic2. (Nikolopoulou et al, 2017) These are very important early embryonic developmental mechanisms required to, later on, create the brain and spinal cord. These processes are part of the neurulation stage which is the coordinated morphogenetic movements within the primitive streak. This consists of a primary neurulation, which takes place during weeks 3 and 4 of gestation, and secondary neurulation, which occurs in weeks 5 and 6 of gestation. Primary neurulation is when the neural tube forms by the shaping, folding and midline fusion of the neural plate. This is done by the induction of the neural plate to differentiate, it undergoes bending to create the neural folds which lift into the dorsal midline, and finally, the tips fuse to have a complete closure of the neural tube. This becomes roofed by surface ectoderm and creates the brain and most of the spinal cord. This process differs between species, but all species go through similar secondary neurulation process, in making the cordial part of the spinal cord. (Copp et al, 2003) This is when the tail-bud cells condense in the midline to form the medullary cord, which then undergoes epithelialisation around a lumen, forming a neuroepithelium which goes to make the rest of the spinal cord. The cellular events of the tissue movements in neurulation involve changes in the behaviour of the cells, such as changes in cell number, position, shape, size and adhesion. The mechanisms involved are found in the neuroepithelium, non-neural ectoderm, mesoderm and notochord, take part in regulating the neural tube closure. (Colas and Schoenwolf, 2001) The failure in this led to NTD development. Convergent extension, a cellular event that occurs, which is where the tissues narrow along its mediolateral axis and elongate along the anteroposterior axis.Child With Spina Bifida Essay  It is responsible for shaping the neural plate before closure and is linked to the non-canonical Wnt pathway, which is precisely controlled. Mutations in this Wnt signalling has proven to cause failure of neural tube closure as it prevents the neural plates from elevating to the midline and fusing. This results in the most severe case of NTD (Craniorachischisis) which essentially leads to death. (Coop et al, 2003) The heterozygote mutation of this Wnt signalling results in the development of spina bifida. Coordinated morphogenetic movements within the primitive streak and nascent primary germ layer, signalling occur between them causing the initiation of neurulation, through induction of the neural plate. Majority of the molecular basis of neurulation remains unknown. Some of the genes involved in neurulation, which when mutated causes a development of spina bifida is, Pax3, which is known to be a haplotype associated with an increased risk for NTD, as it is a transcription factor important for specification of neural crest-derived structures during patterning of the neural tube. (Lu et al, 2007) Another gene, when mutated is Zic2, which is a zinc finger transcriptional regulator of sonic hedgehog activity. (klootwijk et al, 2004) Sonic hedgehog is an important signalling molecule needed for embryonic development. Mutation in Slug, zinc finger transcription factor, causes a defect in the dorsalisation of the neural tube. (Stegmann et al, 1999) Aldehyde dehydrogenase (ALDH1A2) and cytochrome P450 enzyme are needed for synthesis and metabolism of retinoic acid during the patterning of the neural tube. (Deak et al, 2005) Mutations in genes involved in this result in the increased risk of developing NTD. This and other genetic mutation lead to a defective development of the neural tube during neurulation, leading to conditions like spina bifida.

ORDER  NOW

Causes of spina bifida

The specific causes of spina bifida are not fully understood but many studies have shown that there are environmental such as teratogens, and genetic factors, which are heterogeneous, including chromosome abnormalities, single gene disorder that leads to an increased risk of spina bifida. (Mitchell et al, 2004) The main factor seen in patients that give birth to individuals with spina bifida is known to have had lower doses of folic acid during the pregnancy, and many studies have shown that 70% of cases have been prevented by the correct daily intake of folic acid during pregnancy in reducing prevalence spina bifida cases. (Mitchell et al, 2004) Evidence has indicated that the minimal intake of 0.4mg of folic acid reduces the number of NTD cases. (Hewitt et al, 1992) Folic acid doesn’t prevent all NTD cases as there is folic acid non-responsive NTD that can occur, this shows that there is a genetic influence on the increased risk of spina bifida. Research done on mice has shown that mice lacking inositol kinases have a higher prevalence of NTD. This kinase is important for intracellular signalling, interaction with cytoskeletal proteins and regulation of membrane identity in trafficking and cell division. (Greene et al, 2017) Spina bifida has proven to have a genetic component to is as well. Research has shown that two mutations in methylenetetrahydrofolate reductase (MTHFR) gene, leads to a risk of NTDs such as spina bifida, occurring. Mothers with elevated plasma homocysteine have shown to have children with NTDs. Homocysteine is an amino acid that comes from the demethylation of an important amino acid, methionine. This demethylation or homocysteine is remethylated, by the use of MTHFR enzyme and adequate supply of folic acid. The mutations in the MTHFR gene causes dysfunctional enzyme of this and causes an elevated concentration of homocysteine. (van der Put et al, 1998) Spina bifida has shown to have a genetic inheritable component in the family history of spina bifida causes an increased risk of this malformation occurring. Child With Spina Bifida Essay Chromosomal abnormalities such as triploidy and trisomy have also shown to have a carried link causes spina bifida in offspring, but the reason for this is not fully understood. Maternal age and health have also shown to be linked to increased risk of spina bifida, as maternal obesity have also shown to be a risk factor for NTDs. The intake of medications such as thalidomide and valproic acid have shown to be teratogen to embryos in causes congenital malformations like spina bifida. (Chen. C. P, 2007) As most cases of spina bifida can be prevented through improved maternal health, nutrition like folic acid intake and avoidance of teratogens, the prevalence of spina bifida has reduced throughout the years, in areas that this can be maintained. Child With Spina Bifida Essay

Clinical therapies

Most spina bifida cases present with a development of weakness or paralysis in the legs, urinary and bowel incontinence, lack of sensation in the skin and build up cerebrospinal fluid causing pressure on the brain, which may lead to brain damage. Some cases have their nervous system prone to infections which can be life-threatening. Myelomeningocele has further symptoms that will be present, such as cognitive problems and learning difficulties, as it impacts brain development. Other problems that arise from spina bifida is a higher risk of meningitis, have latex allergies and skin problems. Majority of spina bifida cases, around 90%, are identified during ultrasound scan at 18 weeks of pregnancy (third trimester), other ways of detections are maternal blood test which measures alpha-fetoprotein (AFP) or use of MRI. Although very mild cases of spinal Bifida have no symptoms and may never be detected. Child With Spina Bifida Essay

The main treatments used for spina bifida are surgical intervention and physical and therapy. There are also ways to treat the symptoms that spina bifida individual has. Surgery is done to repair the spine, which is usually done within 2 days of birth. Surgery is also done to remove the build-up of cerebrospinal fluid in the brain (hydrocephalus), usually using a permanent shunt that drains excess fluid away. (Lorber and Salfield, 1981) There are various treatments and tools used for bowel and urinary incontinence such as drugs or further surgery. Studies have shown that infants with untreated open spina bifida, passed away within 6 months of birth. Main causes of mortality in those with spina bifida are hydrocephalus and meningitis. (Smith and Smith, 1973) But with these treatments those with spina bifida can live past 40 years old, with follow up treatments along the years, the majority can live active and productive lives. Child With Spina Bifida Essay

Conclusion

To conclude, understanding the precision in the mechanisms and cellular activities that takes place during early embryogenesis will allow us to create better ways in which we can prevent congenital health defects, for spina bifida the current and best suggested to altogether prevent spina bifida from occurring is for the pregnant individual to take folic acid and to maintain a healthy diet, and for those who have spina bifida cases in their family is to take a little more folic acid than what an individual without spina bifida cases in their family. This will allow a normal development of the foetus and prevent surgery or other interventions after birth, and improve the quality of life for both the infant and family and prevent the passing on of spina bifida to further generations. There are future studies looking to expand our understanding on the mechanisms and pathophysiology of spina bifida, to evaluate the long-term impact of in utero intervention and to refine timing and technique of spina bifida surgery using tissue engineering technology. (Adzick. N.S, 2013) With recent spinal surgery technology, even those with severe spina bifida stands a chance at having a long and productive life with minimal complications. Child With Spina Bifida Essay

One common motor functional problem children and adults suffer from today is a condition called Spina Bifida. Spina Bifina is a physical condition people suffer from which, results in a failure of fusions of the caudial neural tube, which produces a malformation that losses motor functions in the human structure (Sival, Viles, Weerden, 2004, p.427).  Child With Spina Bifida Essay
The body mass index was used as an indication that meant women with a body mass index of about 29 has a 1.5 to 3.5- times the higher risk than women with low body mass index (2004, p.1887). “Data from one study suggest that the increase risk of spina bifida in the offspring of obese women might be attributable to hyperinsulinaemia might precede or coexist with obesity and diabetes this metabolic state provides a potential link between these two maternal risk factors” (2004) Surgery is a much more effective alternative for pregnant women because it decreases the risk of producing a child with spina bifida. Gastric bypass surgery may be less effective because spina bifida could reduce the intake of nutrients which is essential for the development of the embryo (Adzick, Melchionne, and Mitchell, 2004, p.1887). The researchers found sufficient evidence to support the negative risk factors associated with spina bifida, which include the use of saunas, hot tubs, and tanning beds (2004, p.1887).  Child With Spina Bifida Essay