A Congenital Malformation Commonly Affecting Children Born With Spina Bifida

The human body is made up of many organ systems that consist of organs and tissues of different anatomies and diverse nomenclature. These organs systems, organs and tissues are prone to thousands of diseases, and one of these diseases is cerebral palsy, which is a disease of the nervous system in simple terms. Research relating to cerebral palsy is carried out, whereby the disorder is described, along with its history, and how it affects the nervous system and the brain. The anatomy of the body systems involves with regard to this disorder, the effects of the disorder on these body systems and other body systems are also researched and discussed. Furthermore, the research focuses on the causes of cerebral palsy, its complications, signs, and symptoms, and the diagnosis of the disorder, along with its treatment and side effects of the treatment. A recap of the research focusing on prevention strategies, the anatomy and physiology of cerebral palsy and the nervous system is presented.

This syndrome is from a mutation of a gene on chromosome 15 and this causes problems in the production of fibrillin-1 which is a protein that is an important part of connective tissue. The name for the gene is FBN1. Basically, it is the “glue” that helps to support the tissues in the human body. A child born to a parent with this syndrome has a 50% of having it. However, in the remaining 25%, neither parent has the disease which gives them a 1 in 10,000 chance of having a child with this disorder. When a child of two unaffected parents is born with it then the genetic mutation occurs in either the egg or sperm cell at the time of conception.

Anencephaly is a congenital birth defect and is characterized by the absence of the prosencephalon (fore-brain), cerebrum, cerebellum, and cranium. Part of the brain-stem is usually present. The head usually stops just above the eyebrows and slopes backwards. Since the head stops so suddenly, many babies appear to have bulging eyes. Some are born with cyclopia, the presence of only one eye centered in the middle of the forehead.

For the past two years, I have been working with a child who was diagnosed with spina bifida at birth. He is paralyzed from the waist down, and uses a manual wheelchair for mobility. Like most twelve-year old boys, he enjoys being outside and loves basketball. The neighborhood he lives in has an outdoor basketball court for the community to enjoy, however; there are many barriers interfering with his ability to access to area. His neighborhood was developed prior to 1990, so the public areas are not in compliance with ADA standards. The basketball court is located down the street from his home, and currently there are no sidewalks available for him to safely maneuver his wheelchair. The parking lot outside the court is an uneven gravel terrain

Chiari Malformation (aka Arnold-Chiari Malformation) is the condition when brain tissue extends into the spinal canal. This occurs when part of the skull is unusually small or misshaped which later causes pressure on the brain and forcing it downwards. There are 3 types of Chiari malformations. Type I develops as the skull and brain are growing, type II and type III are congenital.

Abraham Maslow once said, “In any given moment we have two options: to step forward into growth or to step backward into safety.” My whole life I have had many medical issues typically preventing one from doing a lot of the “normal” things a child can do. But I truly believe that life is not about the circumstances you were given, but much rather how you choose to react to them. So growing up I have always managed to find a way to not let my disabilities hinder me from living my life like everyone else and defy the odds I was handed.

Spina bifida is a type of birth defect called a neural tube defect, it happens if the spinal column of the fetus does not close completely during the first month or pregnancy, that can damage the nerves and spinal cord" (U.S National Library Medicine, 2014). Spina bifida's symptoms are defending on how severe the defect is. Children with mild form of spina bifida do not have any problems. According to WebMD, children with the most severe form often, have spine, and brain issues that cause serious problems (2014). Scientists believed that spina bifida is caused by a condition of genetic and environmental factors such as the mother's nutrition. "The long-term problems associated with spina bifida are; bowel problems, muscles movement, sensation, intellect and education, sexual function, emotional and family support (which are the most, needed on both affected person and their family), and urine and kidney problem; almost all

According to the site Chiari Malformation, “Chiari Malformation is a structured defect in the brain and spinal cord. This happens sometimes during fetal development and is called congenital Chiari Malformation”(Chiari Malformation). Some Chiari can occur later in life when excessive amount of cerebrospinal fluid is drained away due to injury infection and exposure to toxic substances(Chiari Malformation). This is called secondary Chiari Malformation(Tamiz 1). He also said “Chiari is caused by poor diet. The indented bony space at the back of the skull is abnormally small. As results this will build up pressure on the

Dandy-Walker Syndrome or Dandy-Walker Malformation is a congenital malformation of the cerebellum and the fluid filled space surrounding it. The malformation can include an enlargement of the fourth ventricle, a partial or complete absence of the space between the two hemispheres of the cerebellum (called the vermis), and a cyst formation near the lowest part of the skull (National Institute of Neurological Disorders and Stroke [NINDS], 2016). Dandy-Walker Syndrome is found in approximately 1 of 25,000 to 35,000 live births and is more prevalent in females than males (NORD-National Organization for Rare Disorders, 2008). Although an exact case is not known, the syndrome may be a result of defects in the embryonic development of the cerebellum. Research has found that in some cases patients have chromosomal abnormalities. Dandy-Walker may also be caused by genetic abnormalities or environmental factors, teratogens (NORD-National Organization for Rare Disorders, 2008). Maternal diabetes and infections passed through the mother to the fetus may also result in a child born with Dandy-Walker Syndrome (Childrens National Health System, 2016).

When I was younger, I would get frequent headaches, which felt like knives going through my skull to say the least. As I got progressively older, the symptoms would get worse until even the slightest inconvenience, such as coughing, would render me paralyzed for several minutes because of the immense pain felt at the back of my head. In May 2013, I would finally be diagnosed with Chiari Malformation. Chiari, in simple terms, is a brain disorder in which the brain is too large for the skull, so the brain hangs over into the spine. This causes

Craniosynostosis is a birth diseases that may or may not need surgery. Many doctors can’t see is is the baby has craniosynostosis when the baby is in the stomach. Sometimes they can’t even tell if that baby has it or not so they would do a cat scan to see if the baby does. If the craniosynostosis is mild then the baby might not need surgery. Also sometimes the doctors can’t tell until they do a physical on the baby.

The surgical treatment of hydrocephalus includes inserting a shunt with a neurological method. According to this article shunt surgery can be immensely risky with complications such as distal shunt obstruction, infection and migration of the catheter. The risk of shunt failure rises with every fleeting moment. The percentage of failure ranges from 25-40% and reaches its capacity after its first few months. Studies have shown that survival with a shunt had been predicted to be 5

Myelomeningocele is a neural tube defect, resulting from hernial protrusion of a saclike cyst containing meninges, spinal fluid, and a portion of the spinal cord with its nerves. They may involve the entire length of the neural tube or may be restricted to as small area (Perry, Hockenberry, Lowdermilk, & Wilson, 2014, p. 1579). Many babies born with spina bifida get hydrocephalus (water on the brain); this means that there is extra fluid in and around the brain. The extra fluid can cause the spaces in the brain, to become too large and the head can swell (Sandler & Merkens, 2014, p.

Hydranencephaly represents the most severe form of ARX-associated XLID. In most cases it is coupled with abnormalities of neuronal migration,

Spina Bifida is a genetic disorder that results in the baby's spine not forming correctly. The most common cases of Spina Bifida are mild, but some can be severe. Doctors do not know what causes Spina Bifida, but they suspect it is caused by a combination of genetic and environmental risks. Spina Bifida is usually diagnosed by the person getting an x-ray of their back, but in more severe cases, babies may be born with liquid leaking off of the spine.