Cerebral Palsy Research Paper

Cerebral Palsy Research Paper
Cerebral palsy is a neurological disorder that impairs the musculoskeletal system and motor control. Cerebral palsy is an umbrella term that covers
many variations of the disorder. This disorder is caused by brain damage. This brain damage typically occurs pre–birth, during birth, or just after birth.
The brain damage that causes cerebral palsy can also occur by traumatic brain damage or after a stroke, but those are often characterized as a traumatic
brain injury with cerebral palsy–like symptoms. Cerebral palsy is a non–progressive disease meaning that the disease will not worsen over time. There
is no cure for cerebral palsy, but it is not a disorder that completely restricts the individual's participation in activities of daily living; ... Show more
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Because cerebral palsy does not have a cure, there is not a therapy that will completely alleviate the symptoms of cerebral palsy. There are also a
number of surgeries that can help to alleviate the symptoms of cerebral palsy. Physical therapy is a common form of therapy to help improve a
variety of characteristics such as gait, range of motion at a joint, flexibility, balance, and posture. There are several approaches a therapist can do to
help a patient who has cerebral palsy. Stretching, kneading of the muscles, and other exercises can help a patient to improve their strength, balance, and
range of motion in their spastic muscles. The stretching and kneading of the muscles can often help to reduce pain that the individual might be
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18q Deletion Syndrome
RESULTS The karyotype showed 46, XY, del(18)(q23) and the FISH result is .ish del(18)(q23q23)(VIJrRM2050
–), both representing the deletion of
the region 23 from the q arm of chromosome 18. The microarray displays an outstanding result: .arr 18q22.3q23(72,363,115–78,012,800)x1 which
identifies more precisely in which the abnormal genes lie than the karyotype or FISH. (Figure 1, Figure 2) Figure 2 FISH analysis Around 1 in
40,000 live births suffers from 18q deletion syndrome, which is the most common chromosome 18 abnormalities, induced by loss of distal genetic
substance from the q (long) arm of chromosome 18. 4,9 Within the range of 18q22.3–q23, genes can be associated with dysmyelination, failure of
growth hormone stimulation, aural... Show more content on Helpwriting.net ...
Usually, in early foetal development or cell division, the deletion occurs as genetic mutations.9 However, the deletion can be passed through
generations in some cases.2 There might be potential anomalies involved in patient's family. Genetic counselling and prenatal testing can reduce the
rates of birth defects. On the one hand, a genetic testing can be advantageous to other family members, not only for possible future descendants but also
long–term health care issues. For extended family members of the patient, cytogenetic testing can prepare for possible risks as well. At the present, no
effective treatment is found for 18q deletion syndrome, the main direction of treatment is the corresponding signs and symptoms. Due to the fact that
features can be variable on different individual, on the other hand, routine screenings for mentioned symptoms are beneficial to the patient in the long
run.1 Such as testing for thyroid, vision and hearing problems, Congenital Aural Atresia (CAA), kidney anomalies, dysmyelination, growth hormone
deficiency etc. which can relate 18q deletion syndrome. Testing on Immunoglobulin A (IgA) level is also vital for preventing possible immunologic
defects.

Deleterious Med12 Mutation Of Fg Syndrome
Deleterious MED12 Mutation in a Patient with Mitochondrial Dysfunction Expands the Phenotype of FG Syndrome ABSTRACT: Mutations in the
MED12 gene are associated with X–linked intellectual disability (ID) which present phenotypically as FG syndrome or Lujan syndrome. The two
disorders have overlapping features of ID, hypotonia, and corpus callosum abnormalities but physical features differ . Carrier females are typically
unaffected. Mitochondrial dysfunction has not been previously described. Herein, we report a 7 year old male with features of FG syndrome,
hypogammoglobulinemia, mitochondrial dysfunction, and normal IQ found to have a de novo deleterious MED12 mutation on whole exome
sequencing. This case expands the phenotype of MED12–related disorders. In addition, hypogammoglobulinemia documented in this patient may
explain the frequent infections reported in other patients with MED12 mutations. INTRODUCTION: The definition of FG syndrome is based on
original observations by Opitz and Kaveggia in 1974. They described a case of 3 brothers and their 2 male first cousins with an undescribed X– linked
mental retardation syndrome. They were also affected with macrocephaly, imperforate anus and congenital hypotonia and agenesis of the corpus
callosum . In 1977, Riccardi et al reported another male in the original family and 3 affected brothers from an unrelated family . They had short stature,
joint contractures, seizures, characteristic personality and facial features,

Cri Du Chat Syndrome Research Paper
Lauryn Trammell Cri du chat Cri du Chat syndrome–also known as cat cry syndrome– a genetic condition that is caused by a genetic material on the
fifth chromosome. Discovered in 1963 by french geneticist named Jerome Lejeune. Cri du chat was described as a syndrome that consists of congenital
anomalies and mental retardation, microcephaly, and abnormal face. In younger patients the cry similar to mewing of a cat is the main diagnostic
feature of the syndrome. The syndrome got its name high–pitched tone of their cry.The syndrome is commonly mentioned as deletion 5p–syndrome/
chromosome 5 short arm deletion. Most cases are said to have evolved in the egg or sperm. The syndrome causes irregular development of a child's
larynx it becomes most distinct when the child gets older around age 2 and makes the diagnosis WAY more stressful. Cri du chat syndrome is known
as an uncommon disease by the OORD ... Show more content on Helpwriting.net ...
Women are more likely to get cri du chat the ......males. There are no for sure treatment plans/cures for the syndrome. Doctors will most likely
recommend physical therapy, speech therapy,occupational therapy, sign language, genetic counseling,and behavior modification programs. Physical
Therapy is the attempt to cure physical retardation or injury by physical procedures like heat treatment exercise. Speech Therapy is the training to help
others speech and communication problems to speak with more clarity.Occupational Therapy is for people who are recovering from physical or mental
sickness that motivates rehabilitation through performance of activities that are ideal needs for everyday life. Sign language is a language used to
communicate . Genetic counseling is advice to potential ..parents concerning the possibilities of genetic disorders in the

Central Core Disease Research Paper
"Doak realizes there are many people with muscle diseases who are far worse off than she. 'But,' she says, 'In my mind, I used to be able to do things
that now I can't. It's still bothersome,'" –Sandy Doak, victim of Central Core Disease. Central Core Disease, or CCD, affects one the body's most
major systems –muscular, in a way that everyday people cannot imagine from infancy to adults. Patients with Central Core Disease go through more
than muscle weakness but also more complications that come along with this disease. Central Core Disease affects the muscle system, and although it
is typically not progressive, it can also cause poor fetal movement, scoliosis, hip dislocation and joint contractures. The muscle system is very important
to... Show more content on Helpwriting.net ...
There are main ways of diagnosing this disease physically; early–onset and later–onset. In early–onset, doctors look for hypotonia – poor fetal
movement, respiratory insufficiency; delayed motor milestones, scoliosis, congenital hip dislocation, high–arched palate, foot deformities and joint
contractures, such as spondylocostal dysostosis. For later–onset, which is more rare, they look for mild symmetric myopathy, mildly affected facial
muscles and occasional involvement of the extraocular muscles, (Quinlivan 3). With the early–onset diagnosis, physical therapy would benefit from the
patients experiencing hypotonia, scoliosis and joint contractures. Respiratory support, breathing exercises and chest physiotherapy would be used for
those with breathing problems caused from Malignant Hyperthermia. "Iannaccone also recommends consultations with a nutritionist to make sure
patients are getting enough fluid, potassium and calcium, because a lack of any of these can contribute to cramping episodes," (Wahl 3). Getting
calcium back into your body is a major key while having this disease, as your body's regular circulation of calcium is off. As of right now, there is
no cure for Central Core Disease, only supportive and rehabilitation measures. "MDA's current commitment to research in CCD, as of Jan. 25, 2010,
is $1,156,989, spread over seven grants," (Wahl 1). In the past six years, the research has grown and will

Characteristics Of A Chromosomal Disorder Essay
A chromosomal disorder is caused by an abundance or reduction of genes on the chromosomes. This type of disorder may also be caused by structural
changes within these chromosomes; this is known as an aneuploidy (Porth, 2015). The most common chromosomal disorder is Down syndrome of
which there are three types: complete trisomy 21, translocation, and mosaicism (Porth, 2015). Since its first identification in 1866, researchers have
become more knowledgeable about the etiology of Down syndrome. When one studies etiology, pathogenesis, and clinical manifestations of Down
syndrome, he or she will begin to understand multiple chromosomal disorders. Typically, the nucleus of each cell stores forty–six chromosomes. Half of
these chromosomes derive from each parent cell. However, in those with Down syndrome, the cells contain forty–seven chromosomes. Researchers'
knowledge of the etiology of Down syndrome has grown since it was first described in 1866 by John Langon Down (National Down Syndrome
Society, 2012). According to the National Down Syndrome Association (2012), 95% of the Down syndrome cases are caused by a fault in cell
division. Although it is clear that this disorder occurs because of an alteration during cell division, the cause as to why this occurs is unknown.
However, the pathogenesis of this disorder is clear. The pathogenesis of this disorder begins with nondisjunction during meiosis, which is failure of the
chromosomes to separate. Today, it is known that there

WhatВґs Xyy Syndrome?
XYY Syndrome XYY Syndrome is a condition where a male has an extra Y chromosome in his genes. This can be known as "Jacob's Syndrome,
XYY Karyotype or YY Syndrome". Having this condition does not mean that an individual life would have a massive impact although there are
some factors that may cause issue such as being taller than an average height person of the specific age, learning difficulties, speech problems, minor
physical differences such as weaker muscles and bones. The condition can cause delayed puberty, which is why when a male is older he could fact
fertility issues, and complications related to low testosterone levels. Saying this, XYY Syndrome does generally distinctive physical features or
complications and have a normal sexual

Dup15q Research Paper
Short description: People with dup15q share many symptoms, although the intensity of these symptoms varies from person to person. This page will
explain the most common symptoms of dup15q and the challenges that come with them.
Physical Features
Hypotonia
Babies with dup15q syndrome often have poor muscle tone, known as hypotonia. They may appear "floppy" and have difficulty sucking and feeding.
Some parents report that their baby with dup15q syndrome has an unusual, weak cry. Motor milestones such as rolling over, sitting up, and walking are
significantly delayed, although most children achieve independent walking after two to three years (younger in children with an interstitial duplication).
When walking, a wide–based or uncoordinated (ataxic)

Infant Development
This study is based on Dr. Heidi Als' Synactive Theory of Infant Development which provides a framework for understanding the behaviour of
premature infants. The infants behavior are grouped into 5 subsets which are:
A. Motor – where the infants movement, posture, activity, and motor tone are observed. Signs of stresses are generalized hypotonia, frantic flailing
movements, finger splaying, hyperextension of extremities.
B. Autonomic – which is the basic physiological functioning of the body necessary for survival. Early indicators are skin color, tremors, heat rate, and
respiratory rate. Signs of stresses are color changes, changes in vital signs, visceral responses, sneezing, and yawning.
C. States – this is a way of categorizing the level of central nervous system arousal. Signs of stresses are diffused ... Show more content on
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If an inappropriate stimulus persists the infant will no longer be able to maintain a stable balance of subsystems. If properly timed and appropriate in
complexity and intensity, stimulation will cause the infant to search and move toward the stimuli, while maintaining him / herself in a stable balance.
In healthy full term infants these systems generally work smoothly supporting and promoting each other. In the preterm infant these systems are not
fully developed and ready to function. Therefore, the preterm infant's behaviors are generally characterized by disorganization and signs of stress. The
preterm infant is more dependent, than the full term infant, on its environment to help support and maintain balanced equilibrium.
In relation to the study, the Recorded Lullaby will be perceived as the appropriate stimuli that will help a premature infant maintain a stable balance of
subsystems. However, in the study we focus on the Autonomic– Vital Signs and State – Sleep

Causes Of Rett Syndrome
Rett syndrome is defined as "A progressive neurodevelopmental disorder mainly caused by mutations in the gene encoding the methyl–CpG–binding
protein 2 " – Cortealzo et al(2013)This condition mainly targets females however in rare cases males can also develop it. Onset of classic Rett
syndrome usually occurs during infancy, specifically between the ages of six to eighteen months. Numerous manifestations take place including motor,
as well as social impairment, while microcephaly is more commonly associated with either Hanfeld or Rolando variation. Though the majority of cases
are associated with mutations taking place on the MECP2 X chromosome other variations have different genetic origins. Variations including Rolando,
Hanfeld & Zapella are... Show more content on Helpwriting.net ...
Advanced stages show signs of extreme muscle rigidity akin to Parkinson's accompanied by seizure activity in early, as well as late stages. Numerous
neural abnormalities are also present, specifically reduced branching, size, density, spines and global hypoprofusion indicative of potential atrophy
accompanied by white, as well as grey matter & thalamic abnormalities(Burroni et al., 1997) Dopaminergic, as well as cholinergic abnormalities are
thought to be in part associated with potential cerebral cortical impairment & production of microtubule protein 2 (Kauffmann, Naidu & Budden.,1995)
Dendritic spine dysgenesis is also present, which according to Xu, Miller & Miller (2014) is thought to be influenced in part by reduced brain derived
neurotrophic growth factor. Such growth protein is essential, as well as essential for numerous functions including plasticity, neurogenesis, neuron
survival, becoming functionally integrated following migration & differentiation of progenitor cells during critical development

Essay on Prader-Willi Syndrome
Prader–Willi Syndrom
Prader–Willi Syndrome is a serious genetic disorder that begins at birth with no known cure ; causing mental retardation,short stature,low muscle
tone,incomplete sexual development,and its main charecteristic,the desire to eat everything and anything in sight.
Prader–Willi syndrome was first known as Prader–Labhart–Willi Syndrome after three Swiss doctors who first described the disorder in 1956. The
doctors described a small group of kids with obesity, short stature and mental deficiency , neonatal hypotonia (floppiness) and a desire to constantly eat
because they are always hungry. Many other features of PWS have since been described, but extreme obesity and the health problems associated with
being fat are the ... Show more content on Helpwriting.net ...
The average IQ testing shows that people with PWS are mildly retarded, the range is from severely retarded to not retarded, with 40% having
borderline retardation or just a low normal intelligence. Most affected children, besides their IQ scores, will have many, severe learning disabilities,and
will show poor academic performance no matter what their IQ shows to their mental abilities.
There are many signs and symptoms of PWS that show up before birth.some are decreased fetal movement in 80–90% and having an abnormal delivery
in 20–30% due to having a really floppy baby. There are two distinct clinical stages of
PWS.
Stage 1
Babys with PWS are called "floppy babies" a lot. Thats because they have weak muscles, officially it is known as hypotonia. This
hypotonia,which almost always occurs, could be mild to severe. Neonatal hypotonia makes sucking difficult, and a special feeding method called a
gavage is used.A gavage the placing of a tube into the stomach through the mouth.They use it during the first days of life a lot.. Decreased caloric
intake from the special feeding difficulties may lead to failure to gain weight. To keep the baby's weight under control supervision by a professional
nutritionist or a specialist who understands the

Congenital Muscular Dystrophy: Article Analysis
In this article, the authors discussed the different types of Congenital Muscular Dystrophy: Fukuyama Congenital Muscular Dystrophy, Muscle Eye
Brain disease, and Walker Warburg Syndrome. Congenital muscular dystrophies tend to be less common than other muscular dystrophies. Patients that
are diagnosed with Congenital muscular dystrophy show symptoms before they are even born. Most rarely move in the womb, due to neonatal
hypotonia. Neonatal hypotonia is known as "floppy baby syndrome", in which patients do not have enough strength in their muscles to move
voluntarily. Then once the patients are born, the symptoms only progress and muscles continue to deteriorate. Patients who are diagnosed with
Fukuyama Congenital Muscular Dystrophy, show

Patient Empowerment Essay
Your statement about patient empowerment causing fear and anxiety made me realize why a mother would not want her child to be admitted after he
had an ALTE in my clinic one night.
The patient had a history of being a 32 weeks premature, Macrocephaly, BPD, Hypotonia, receiving oxygen, and had an apnea monitor. The well
check appointment went well and the vaccines were received without incident. Mom yelled out for help when she placed him in the car seat. The
baby's head had slumped forward cutting off the oxygen supply and he was blue when the doctor arrived to the room. As soon as the doctor removed
him from the car seat, he began to perk up but his color never improved and he was very listless. Mother became very agitated and upset with us

Hypotonia Case Studies
Hypotonia is decreased muscle tone. Muscle tone is the amount of tension or resistance to movement in a muscle while at rest. Muscle tone is
different from muscle strength, which is how much force a muscle can apply. Often, a person with hypotonia will also have weak muscles. Hypotonic
infants are referred to as "floppy" infants because of their abnormally limp bodies and lack of control over their movements.
Hypotonia can be a short–term condition, such as when a baby is born prematurely, or a lifelong (chronic) condition. It is often a symptom of a serious
underlying condition or a problem at birth.
CAUSES
In some cases, the exact cause of hypotonia is not known. Possible causes include:
Trauma. Hypotonia can often be caused by injury that occurred before, ... Show more content on Helpwriting.net ...
This records brain activity.
Removal of a small number of muscle or nerve cells that are examined under a microscope (biopsy).
Genetic testing.
Based on the results of these tests, you may have additional testing to diagnose the underlying condition that caused your hypotonia. You may be
referred to a health care provider who specializes in CNS disorders (neurologist). If no cause is found, the condition may be referred to as benign
congenital hypotonia.
TREATMENT
Treatment for this condition depends on the cause. If an underlying condition is the cause, it will be treated. If there is no cure for the underlying
condition, treatment focuses on managing symptoms of hypotonia. Treatment options for hypotonia include:
Physical therapy to improve motor skills and functional strength. This may involve sensory stimulation for infants and young children.
Occupational therapy to improve skills needed for everyday activities, such as fine motor skills (dexterity) using the hands and face.
Speech–language therapy to overcome difficulty swallowing and talking.
HOME CARE INSTRUCTIONS
Take over–the–counter and prescription medicines only as told by your health care

Physical Therapy Essay examples
According to the Bureau of Labor and Statics, in 2008, there were about 185,000 practicing Physical Therapists. It is predicted that in year 2018,
there will be 241,700 practicing Physical Therapists (Bureau...). A physical therapist is a healthcare professional that can diagnose and treat a person.
Physical therapists work with people of all ages that have a problem or disease that limits their ability to perform daily tasks. To become a physical
therapist, you need either a Masters of Physical Therapy or a Doctorate of Physical Therapy. There are 212 accredited physical therapist programs. Of
those, 203 are doctorate programs and nine are masters. However, starting in the year 2016, The Commission on Accreditation in Physical Therapy...
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It is predicted that by the year 2020, more than 40 million people in the world will have this progressive neurological condition (Morris 579). This
disease occurs when the nerve cells that create dopamine are slowly destroyed. Without dopamine, the nerve cells in that part of the brain cannot
properly send messages and it leads to a loss of muscle function (Kantor 3). The goal of physical therapy for people with Parkinson's Disease is to
help them perform every day activities with the disease. Walking is one of the most common difficulties people with Parkinson's Disease encounter,
and is one of the areas physical therapist spend a lot of time with. One way physical therapist help their patients walk is by using visual cues. An
example of a visual cue is white lines on the floor spaced at step length. Another area of concern that a physical therapist would address is turning
around. An elderly person without Parkinson's Disease can do a 360п‚° turn in fewer than six steps. A person with Parkinson's Disease usually needs
to take twenty steps. A physical therapist would address this by training the person to concentrate in a larger arc of movement and to use a full body
movement (Morris).
According to the National Institute of Neurological Disorders and Stroke, there are more than 700,000 strokes every year, and about two–thirds of
these individuals survive and

Assistive Technologies For The Classroom
Introduction
Assistive technologies are any device or aid that makes completing a task easier. From something as simple as large print for the vision impaired, to
more complex assistive technologies like hearing aids for the hearing impaired. Assistive technologies are designed to make life and learning easier.
The use of assistive technologies inside the classroom is dependent upon many factors. From what support is provided by the school and other agencies,
to the standards and regulations that schools must obeyed by. The most important factor though is the needs of the students and whatassistive
technology best supports their needs. Finding and deciding which assistive technologies best support a student can be difficult and ... Show more
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Inclusive Education
Every child has a right to an education and equal opportunity. Special needs schools are becoming a thing of the past and students are being integrated
into mainstream schools. In 1994 ninety–two governments and twenty–five international organisations gathered with the belief that all students,
including those with special education needs, are entitled to an education delivered by mainstream schools (United Nations Educational, Scientific and
Cultural Organisation, 1994). These like–minded governments and international organisations came together to outline a guide for all those schools
who believe in inclusive education. Stated in the guidelines schools and support services were to receive resources to support student's learning and
ensure teachers are well trained (UNESCO, 1994). Assistive technologies, from Ipads to wheelchairs, would fall under the category of resources.
Assistive Technologies
Assistive technologies are designed and manufactured to make life and learning easier. AT supports both the teacher of special needs students and the
student's development. There is a wide range of AT available and the appropriate AT is dependent on the student's needs. Foreman and Arthur
–Kelly
(2014) stated, the task of finding the appropriate AT for students can be complicated and drawn
–out. The task of finding the appropriate AT can be
demanding and appear to be extra work

Symptoms And Symptoms Of Prader Willi Syndrome And Prader-...
Imagine never feeling full, no matter how much you eat. Imagine also being so hungry that you eat dog food or even a toy car. That is what can
happen to people with Prader–Willi
Syndrome. Prader–Willi Syndrome is defined as "a rare disorder present at birth that results in a number of physical, mental and behavioral problems.
A key feature of Prader–Willi syndrome is a constant sense of hunger that usually begins at about 2 years of age." [Mayo April 2014]
Although it is unpreventable and often difficult, research and new treatments have made this disorder more manageable.
Prader–Willi Syndrome is known by several other names including Labhart–Willi
Syndrome, Prader's Syndrome and Prader– Labhart–Willi–Fanconi Syndrome. It is often abbreviated as PWS. The first patient described with PWS
was in 1887 by Langdon Down but it was not recognized as a syndrome until 1956, getting its name from the researchers responsible for identifying it.
Although scientists knew what the disorder looked like, it wasn't until 1981 that high–resolution images showed that patients were missing one section
of chromosome 15.
Prader–Willi Syndrome is caused by a loss of function of specific genes on chromosome 15. It usually occurs when there is a deletion in the father's
genes. A deletion is a kind of mutation where part of a chromosome is lost duringDNA replication. In this case, the DNA sequence that is lost during
the deletion is responsible for PWS. In normal births, although

Biotinidase Deficiency, Pediatric
Biotinidase Deficiency, Pediatric Biotinidase is an enzyme that helps the body break down the vitamin biotin into a form it can use. Biotinidase
deficiency occurs when the body does not produce enough biotinidase. The deficiency is present at birth. Without treatment it can lead to
complications, such as: Seizures. Developmental delays. Eczema. Hearing loss. CAUSES This condition is caused by a genetic mutation. The
condition develops in people who inherit the mutation from each of their parents. SYMPTOMS Symptoms of this condition develop in the first few
weeks or months of life. They include: Low muscle tone (hypotonia). Seizures. Hair loss. Skin rash. Developmental delays. Greasy, scaly

A Brief Note On Children With Down 's Syndrome
Shanleigh Blackburn – 670207Paediatrics Assignment: Down's Syndrome I believe that children with Down's Syndrome can benefit greatly from
Physiotherapy, due to the physical impairments often associated with their condition. What is Down's Syndrome?: Down's Syndrome is a genetic
condition affecting one in every 1000 births world wide. It is estimated that 700 babies are born with Down's Syndrome annually. (Robertson, 2016)
Typically, there are 23 pairs of chromosomes in a normal, healthy human being. One pair from the mother, one from the father. Chromosomes are
found in every cell of the human body, they carry a genetic code that determines specific traits in every human being. (Park 625 – 627, 2014)
Occasionally, one of the chromosomes may be missing or an extra copy of a chromosome forms. When this happens, it results in a multitude of
genetic abnormalities. These abnormalities are classified as syndromes. (ndds.org/DownsSyndrome, 2016) Downs Syndrome (Trisomy 21) is a
genetic disorder caused by a third copy of chromosome 21. (Park 625 – 627, 2014) There are three different types of Down's Syndrome; Trisomy 21,
the most common form of Down's Syndrome, where an extra copy of chromosome 21 exists in every cell. In Mosaicism, there is an extra copy of
chromosome in some of the cells, these children often present with fewer symptoms. And lastly, Translocation, where there is an extra segment
attached to chromosome 21 itself, often only affects one set of chromosomes.

Nursing Case Study Hypotonia
Based on the information I gathered, my primary differential diagnosis is hypotonia, followed by my secondary differential failure to thrive and the
third differential is dehydration. Hypotonia is decreased muscle tone, which can be a result of genetic, muscle or central nervous system disorders
(National Institute of Neurological Disorders and Stroke ([NINDS], 2017). Hypotonia can affect the infant's ability to have an adequate suck tone
during feeding (Hurst, & Pilgrim, 2017). The 5–month old in this case is having difficulty holding her head up, not able to weight bear and is having
difficulty or prolonged feeding time. My reasoning for choosing hypotonia was the baby's inability to hold her head up, lack of weight–bearing and
feeding taking an hour. According to (NINDS, 2017), the treatment for infants and younger children should include physical therapy, sensory
stimulation programs... Show more content on Helpwriting.net ...
The similarities with FFT and the 5–month–old is the lack of weight gain, a small head circumference and low growth percentile on the growth chart.
The treatment for Failure to thrive (FFT) first is to identify the problem and implement early treatment (Hurst, & Pilgrim, 2017). Once FFT is
determined, the family will receive appropriate nutritional, such as increased caloric intake and other essential intervention from their provider (Hurst,
& Pilgrim, 2017). According to Hurst, & Pilgrim (2017), even though both FFT and hypotonia can occur independently, they can adversely affect the
other (Gupta, Podolnick, & Mazur, 2017). The 5–month old baby's poor inability to feed and her slow weight gain can be due to her possible
hypotonia causing failure to thrive because of a lacking of strong suck for adequate

Omnitrope: Prader-Willi Syndrome
Introduction
Omnitrope is an intravenous injection used in the treatment of Prader–Willi Syndrome, or PWS. PWS, is a genetic condition which disturbs many
growth developments in the body. This condition is nominally characterized by hypotonia – a syndrome classified by weaker or reduced muscle tone,
developmental growth problems, developmentally delaying features, and difficulties in feeding. The drug is used to treat both children and adult patients
displaying these physiognomies.
Dosages
Omnitrope is administered in three different dosage forms:
–The Omitrope© Pen 5 casing – a 5 milligram/1.5 ounce syringe ready for site–injection
–The Omitrope© Pen 10 casing – a 10 milligram/3 ounce syringe ready for site–injection, and
–A 5.8 milligram

Congenital Condition Of Congenital Heart Defects
INTRODUCTION Congenital Heart Defects (CHDs) include all structural anomalies of the heart and the intrathoracic great vessels resulting
from the errors in morphogenesis, during development. The incidence of CHDs among live births is estimated to be 3.7 to 7.7 per 1000 (Ferencz
et al. 1985). CHDs are etiologically heterogenous and it could be due to genetic (single gene defects, chromosomal abnormality) and or
environmental (multifactorial, teratogens) or unknown factors (Michels and Ricardi 1990). From literature, it is seen, that 6 percent of CHDs are
due to chromosomal abnormality (Greenwood et al. 1975). Conversely, the reported incidence of CHDs among individuals with chromosomal
abnormality is around 30 percent. Objectives: In this paper, it is aimed to find out the occurrence of the chromosomal abnormality and its
association to CHDs in consecutively referred patients to Division of Human Genetics, St John's Medical College, Bangalore. MATERIAL AND
METHODS A total of 65 patients with CHDs were referred for karyotyping and counseling, during a period of 5 years. There were 33 male and 32
female patients and their age ranged from neonate to 16 years. Patients' details were recorded in a proforma. Chromosomal preparations were done
from the modified leucocyte microculture method (Arakaki and Sparkes 1963) followed by Giemsa–Trypsin–Giemsa banding technique (Seabright
1971), automated photography and karyotyping.

Why Does The Use Of Magsulfate Increase Risk Of Supc Essay
NU 413 Quality Care and Patient Safety Discussion Board response to student Heidi Felt by Kathryn Moultrie
Good afternoon Heidi,
I find your posting on SUPC (Sudden Unexpected Postnatal Collapse), very interesting, and I am enjoying reading and learning more from you
during this course. One of our classmates' made two very interesting statements in regards to your post; "While you may not realize it, you are helping
to exemplify many of the reasons that we are going back to school for our BSN's. Because higher learning really does improve our nursing practice and
cultivate the learning culture of nurses in our institutions.
Your post generated a few questions for me.
Why does the use of MagSulfate increase risk of SUPC?"
While going back ... Show more content on Helpwriting.net ...
"Why does the use of MagSulfate increase risk of SUPC?" As you reported "guidelines must be established to ensure proper newborn monitoring
occurring during skin to skin contact during the first two hours of life (Pejovic, 2013).
Guidelines in our nursing practice must be accompanied by knowledge, critical thinking, and clinical reasoning based on scientific rationale (why's),
(things that are learned) in order to be effective, in the areas of quality and safe patient care. Nursing implications; are also important, the
nursing–related consequences of something (a disease, a medication, a procedure), but the things which may occur which are up to the nurse to
understand about the medication the nursing–related consequences of something (a medication, a procedure).
Our nursing interventions are the things we do as nurses do on behalf of patients, both independent and collaborative interventions, both direct and
indirect care, "any treatment, based upon clinical judgment and knowledge, which a nurse performs to enhance patient/client outcomes." The fetus
may show a decreased baseline heart rate. A newborn who have been exposed to magnesium sulfate may seem drowsy; have a weak cry and a
decreased sucking rate in the early postpartum period. The mother and fetus should be monitored while on this medication, and infants closely
post–natal. Feghali, M. 2016. et al and

Long Strand ECG Role In ALTE
Long strand ECG role in ALTE Introduction: Apparent life threatening events(ALTE) is no longer called aborted crib death" or "near
–miss" sudden
infant death syndrome (SIDS,:its defined an episode of events that is frightening to the observer formed of a combination of apnea,change in color
,cough and change in the muscle tone that may present by hypotonia or hypertonia ,its Incidence is up to 1 in 400 infants. The mean age 1.9,
SDВ±2.2 months ALTE has many underlying causes < 5%traumatic and s hospitals when it comes to cardiac diagnoses of ALTE patients and
ordering ECGs. Some hospitals almost never ordered an ECG, and others almost 100 percent of the time ordered an ECG," in average it was

What Cause Neonatal Meningitis?
NEONATAL MENINGITIS: This is the term use to describe meningitis that occurs within the first twenty
–eight(28) days of life. Many organisms can
cause neonatal meningitis , broadly grouped as bacteria,virus and fungi. However, bacteria are the most common cause of this disease. The following
bacteria are known cause neonatal meningitis:
Group B streptococcus( streptococcus agalactaie)
Escherichia coli
Listeria monocytogenes
Streptococcus pneumoniae
ESCHERICHIA COLI (E.COLI) MENINGITIS The bacteria live in the small intestine all healthy people as part of the normal flora. Infection in new
born babies occur during delivery, or from bacteria acquired in the hospital or at home. Premature or low weight babies are at higher risk of contracting

Peroxisomes: Zellweger Syndrome
Peroxisomes are a membrane bound organelles which find in cytoplasm of eukaryotes. The main role of peroxisome is to break down biological
compounds (such as fatty acids, foreign materials...) by transferring the hydrogen atoms from these compounds to molecular oxygen. As a result,
peroxisomes generate hydrogen peroxides. Then, in order to protect the cell from the damage of hydrogen peroxides, they will be degraded by catalase,
one of the most important enzymes of peroxisome, to water and oxygen. As a result, peroxisomes have many functions such as beta oxidation of fatty
acids from a long chain of fatty acids to a small chain (have approximately 10 carbons). Peroxisomes also play an important role in the synthesis of
bile acid because peroxisomes help shortening of the side chain and conjugation in that process. ... Show more content on Helpwriting.net ...
Because peroxisomes play a significant role in cell, the deficiency of peroxisomes are dangerous. One of the most life–threatening diseases which are
caused by the absence of peroxisomes is Zellweger syndrome. This condition is also called peroxisome deficiency disorders. In the patients with
Zellweger syndrome, there are mutations in PEX genes which encoded for peroxisome assembly. Because peroxisomes help cell oxidize the long
chain fatty acids, these patients can not oxidize fatty acids and build up bile acid precursors. As a result, the symptoms or peroxisome deficiency
disorder are neonatl hypotonia, neurological manifestations such as psychological and motor retardation, seizures; liver diseases such as cirrhosis,
hepatomegaly... The outcome of this disease is poor. There are many infants die in the first year of life because of respiratory compromise from

Joint Hypermobility Case Study
The first of the major types, classical type, previously type one and two,is an autosomal dominant type five collagen disorder. In more than 50 percent
of patients the gene abnormality responsible is either COL5A1 or COL5A2. The disease is diagnosed through clinical examination using the beighton
diagnostic scale, a test to determine joint hypermobility as well as family history. Classical type is determined by in order of occurrence; skin
hyperelasticity, Wide atrophic scars, joint hypermobility, velvety skin, easy bruising, subluxations and dislocations, flat feet,muscle hypotonia, gross
motor disease, postoperative complications, tissue fragility. Although there is no cure for any type of EDS the symptoms can be treated and
complications ... Show more content on Helpwriting.net ...
Diagnosis is made based on an increase of the ratio of deoxypyridinoline to pyridinoline crosslinks in urine measured by high–performance liquid
chromatography, as well as family history, and clinical examination. There is also a connection to the gene PLOD1. Kyphoscoliosis type is classified in
order of occurrence by; joint laxity, severe hypotonia at birth, delayed gross skill development, progressive scoliosis, scleral fragility, tissue fragility,
thin scars, easy bruising, spontaneous aortic rupture. Treatment involves, management of scoliosis by an orthopedic surgeon, physical therapy to
strengthen large muscle groups, bracing of joints, pads and helmets for active sports. Cardiovascular monitoring, routine checkups, avoidance of high
impact sports, monitoring during

Aicardi Syndrome
Aicardi Syndrome Aicardi Syndrome is a spontaneous genetic mutation that affects the X chromosome, meaning that it is almost exclusively seen in
girls ("Aicardi syndrome – NORD (national organization for rare disorders)," n.d.). The three main characteristics of Aicardi Syndrome are agenesis of
the corpus callosum, chorioretinal lacunae (holes in the retina), and seizures ("Aicardi syndrome – NORD (national organization for rare disorders),"
n.d.). Signs and symptoms include muscle spasms, epilepsy, intellectual disability, hypotonia, microcephaly, microopthalmia, colobomas (incomplete
development of the retina and optic nerve), musculoskeletal abnormalities ("Aicardi syndrome – NORD (national organization for rare disorders),"
n.d.), Hypertonia

Trisomy 13 Or Patau Syndrome
Trisomy 13, also known as Patau Syndrome, is a genetic disorder occurring in about 1 in 12,000 to 16,000 newborns. Trisomy 13 is the second most
common trisomy, behind Trisomy 21, or Down Syndrome. Patau Syndrome is caused when a zygote develops with three copies of chromosome 13
instead of the normal two copies. Although Trisomy 13 is usually the result of three copies ofchromosome 13, it can also be caused by part of an extra
chromosome 13 (partial trisomy 13), or the presence of extra chromosome in only some cells (mosaic trisomy 13), although the latter two forms are rare.
Trisomy 13 is usually not inherited, but instead a result of chromosomal nondisjunction during gamete formation. In the rare cases that it is inherited, it
is a result

Canavan Disease Essay
Canavan disease
Introduction
Canavan disease, also called , aspartoacylase deficiency , is an autosomal recessive degenerative disorder that causes progressive damage to nerve cells
in the brain. Leukodystrophies disrupt the growth or maintenance of the myelin sheath, which is the covering that protects nerves and promotes the
efficient transmission of nerve impulses. Recent research has indicated that the cells in the brain responsible for making myelin sheaths, known as
oligodendrocytes, cannot properly complete this critical developmental task. Myelin sheaths are the fatty covering that act as insulators around nerve
fibres in the brain, as well as providing nutritional support for nerve cells. In Canavan disease, many oligodendrocytes do not mature and instead die,
leaving nerve ... Show more content on Helpwriting.net ...
Macrocephaly:– Macrocephaly occurs when the head is abnormally large; this includes the scalp, the cranial bone and the contents of cranium.
Hypotonia:–
Hypotonia is a state of low muscle tone, often involving reduced muscle strength.
Risk Factors/ Probability в—Џ Having a family history of Canavan disease increases the risk of a person to certain diseases.
в—Џ It is most commonly found in infants.
Causes:–
The cause of the disease is a genetic disorder that causes oligodendrocytes to remain immature and then die, thereby not completing the synthesis of
myelin sheaths. The mutation is in the gene that synthesizes an enzyme called aspartoacyclase.
It is caused by an inherited genetic abnormality; the lack of an essential enzyme causes deterioration of the white matter in brain thereby preventing the
proper transmission of nerve signals.
Treatment / cure There is no cure nor is there a standard course of treatment. Treatment is symptomatic and

How Reagan Changed My Life
According to National Down Syndrome Society statistics, approximately one in every seven hundred babies in the United States is born with
Down Syndrome. My youngest sister, Reagan, happens to be that one in seven hundred. Excited and happy, Reagan always has a smile on her
face (BE1). She loves to dance and sing, play games and watch television, roll her eyes and make sassy jokes (SC6). Reagan being born has
changed my life for the better. Since Reagan was born, I have been able to look at people with disabilities differently, I have learned how to respect
any person for being who they are, and her being born has helped my family to become closer. As a child grows up, what they hear about people
with disabilities is usually ridden with negative connotations. They hear about how kids with disabilities cannot read, cannot walk "right", cannot talk
"right", cannot learn as fast compared to students in their grade (SC4). After Reagan was born, my entire perspective on people with disabilities
changed. I no longer only look at the negatives of a disability, and I focus more on the positives. Reagan has been given the chance to participate in
sports, and learn in a normal classroom environment, and experience what a... Show more content on Helpwriting.net ...
Why do we focus so much on how they are different, when we could be focusing on how they are the same? Characteristics of being human include, but
are not limited to the following list: humility, equality, nobility, integrity, companionship, compliant, heroism, and truthfulness. People with disabilities,
like Down Syndrome, are capable of all of these things. So I ask again, why do we focus so much on how they are different, when we share all the same
characteristics? I have been able to change my viewpoint on people with disabilities because of Reagan's birth, and for that I will be forever

Prader-Willi Syndrom
Prader–Willi Syndrom Prader–Willi Syndrome is a serious genetic disorder that begins at birth with no known cure ; causing mental retardation,short
stature,low muscle tone,incomplete sexual development,and its main charecteristic,the desire to eat everything and anything in sight. Prader–Willi
syndrome was first known as Prader–Labhart–Willi Syndrome after three Swiss doctors who first described the disorder in 1956. The doctors
described a small group of kids with obesity, short stature and mental deficiency , neonatal hypotonia (floppiness) and a desire to constantly eat
because they are always hungry. Many other features of PWS have since been described, but extreme obesity and the health problems associated with
being fat are the... Show more content on Helpwriting.net ...
As soon an the kid has improved muscle tone, and has increased its appetite, and is old enough to get move on the floor,than any food that can be
easily gotten must be moved to a safer,out–of–reach place. To make inappropriate "food" unavailable to the kid with PWS, parents must learn special
patterns of food storage and handling Sleepiness during the day and napping a lot are some of the common features of PWS. Recently, studies have
show that there is a strong link between this and sleep quality. Some of the types of sleep disorders that have been described in PWS affected people
are: disturbance to the sleep wake cycle, obstructive sleep apnea, hypoventilation syndromes and narcolepsy. Although patients with PWS fall asleep
very quickly, their sleep period is significantly disrupted with frequent awakenings and abnormal patterns of rapid eye movements sleep (rems).
Obstructive sleep apnea occurs with increased upper airways resistance, either from enlarged tonsils , relaxation of the upper airway musculature, or
from structural airway anomalies. Sometimes actual pauses in breathing during sleep can

Sandhoff Disease Essay
Sandhoff disease is a severe form of Tay–Sachs disease but Sandhoff disease is not limited to any ethnic group. Onset of the disorder usually occurs at
six months of age, infant's present normal for the first three to six months of life. Neurological symptoms may include progressive nervous system
deterioration, problems initiating and controlling muscles and movement, increased startle reaction to sound, early blindness, seizures, spasticity, and
myoclonus.3 Other symptoms may include macrocephaly, cherry–red spots in the eyes, respiratory infections, doll–like facial appearance, and an
enlarged liver and spleen. The defective gene is passed by each parent who must be a carrier of the disease. However, if one parent is a carrier of the
disease, ... Show more content on Helpwriting.net ...
The gene that causes Sandhoff is located in chromosome 5. Sandhoff disease is typically caused by mutations in the HEXB gene. This gene provides
instructions for making a protein that a part of two enzymes in the nervous system, beta–hexosaminidase A and beta–hexosaminidase B. These two
enzymes are located in lysosomes, which are in the cells that break down toxic substances.4 Sandhoff disease, like Tay Sach's, is classified into
infantile, juvenile, and adult forms. Infantile onset is the most rapidly progressive neurologic dysfunction and normally causes death by age three.
Symptoms of infantile onset generally begin the first six to 18 months of life, which include; psychomotor retardation, cherry red spot, blindness, and
hypotonia. After the age of two is when the symptoms of macrocephaly and spasticity are demonstrated. Seizures usually begin after the first year of
life and are mostly tonic–clonic or myoclonic.11 Juvenile Sandhoff begins to appear around the age of

Sepsis Case Study Essay
Sepsis is one of the main causes of mortality and morbidity in preterm babies and is responsible for 45% of late deaths in the neonatal intensive care
units (NICUs).1 early diagnosis and management of sepsis are a great challenge facing neonatologists. Clinical diagnosis is difficult due to non specific
symptoms and signs while laboratory diagnosis is time consuming.2
Blood culture is the gold standard diagnostic method of neonatal sepsis. However, technical problems as insufficient blood sample or maternal use of
antibiotics can be an obstacle in isolating the responsible pathogens.
In recent years, there has been great interest in studying new indicators of infection such as interleukin–6 (IL–6), IL–8, and procalcitonin (PCT) and
their

Ntrk1 Research Paper
Congenital insensitivity to pain with anhidrosis is a hereditary gene that comes from a mutation in the NTRK1 gene. The NTRK1 gene provides
instructions for making a receptor protein that binds to another protein called NGFB. NTRK1 is important for the survival of the nerve cells. It is
found on the surface of cells, mostly neurons that transmit pain, temperature, and touch. The mutations mean it can't transmit signals to the neurons
then they die by self destruction, it is called apoptosis.
Loss of the sensory neurons lead to the inability to feel pain and also leads to the loss of the nerves that lead to the sweat glands, which causes
anhidrosis. It is inherited in an autosomal recessive pattern both copies in each cell have the mutations. Parents of an individual with an autosomal
recessive condition each carry one copy of the mutated gene, but don't typically show symptoms or signs of the condition.
C.I.P.A is very rare with there being less than 100 known cases in the United States. It is more common in people that live in Northern Israel,... Show
more content on Helpwriting.net ...
The inability to feel pain and temperature can lead to repeated severe injuries. Unintentional self–injury is normal, typically by biting the tongue, lips,
and fingers. This can sometimes lead to spontaneous amputation. People afflicted with C.I.P.A heal slowly from skin and bone injuries, and repeated
trauma can lead to chronic bone infections (osteomyelitis), or charcot joints (bones and tissue surrounding joints are destroyed).
Anhidrosis can cause high fevers (hyperpyrexia) and febrile seizures. Many also have leathery skin (lichenification) on palms of hands, misshapen
fingernails or toenails, patches on their scalp where hair doesn't grow (hypotrichosis), hyperactivity or emotional instability, intellectual instability, and
weak muscle tone (hypotonia) which becomes more normal as they grow

Aniridia Research Paper
There are some people who are perceived to be demon–like or to be possessed simply because their eyes are predominately black and they look almost
liquefied. When you come across people with eyes like this it definitely makes you take a double look. Although all of the supernatural shows on
television make us wonder about these people the truth is they may be suffering from a genetic condition that causes the eye to be underdeveloped.
Aniridia is a rare genetic eye condition that is an extreme form of Iris Hypoplasia (the underdevelopment of the iris or colored part of the eye).
Aniridia runs in families, you're born with it and it occurs in both eyes. The Greek meaning of Aniridia is "without iris".
Aniridia is caused by the Pax6 gene. This gene is responsible for eye development and when it doesn't function correctly the eye stops developing too
early and this causes the baby to be born with underdeveloped eyes. Eyes that are affected by Aniridia look like the pupil is extremely large and the
color of the eye can barely be seen. In rare cases the color of the eye (the iris) can't be seen at all. ... Show more content on Helpwriting.net ...
Aniridia does not always cause vision loss, but it is

Marker X Syndrome
FRAGILE X SYNDROME Fragile X Syndrome (FXS) also known as , the Martin–Bell, or the marker x syndrome. This genetic disorder is an
autosomal dominant. It is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment.
Majority of the time males are in more risk than females to getting this genetic disorder. For more proof of this fact statistics say that 1 in 4,000 males
and 1 in 8,000 females tend get this disorder.This disorder is caused by the expansion of lengthening of FMR1 gene on the X chromosome. When it
lengthens it turns off the production of a protein that is involved in brain development and other functions. This Fragile X gene can be passed down
through generation.

Hydrocephaly-MASA Spectrum Analysis
Hydrocephaly–MASA Spectrum is the most common XLID syndrome with a structural malformation of the central nervous system. Isolation of
mutations in L1CAM has allowed inclusion of four entities that were previously thought to be separate entities in the spectrum; these include X–linked
hydrocephaly, MASA syndrome, XLID–clasp thumb and complicated spastic paraplegia (Stevenson RE., 2013). Hypotonia is usually present initially
and replaced by spasticity in the late childhood. Interestingly, the degree of intellectual development of these individuals appears to be correlated with
the severity of hydrocephaly. Hydranencephaly represents the most severe form of ARX–associated XLID. In most cases it is coupled with
abnormalities of neuronal migration,

Down Syndrome As A Cognitive Disorder Essay
Down syndrome as a cognitive disorder
Down syndrome (DS) is relatively well known as a genetic disorder to the general public and children with this syndrome form one of the most
readily identifiable groups of children with moderate to severe learning difficulties. It has been over 130 years since Langdon Down first described
DS and 30 years since the presence of the defining extra copy of chromosome 21 was identified by Lejeune and his team of
French geneticists. Delay in the development of cognitive capacities is a primary consequence of Down syndrome. Despite such cognitive delay,
however, young children with Down syndrome can be empathic, affectionate and engaging (Wishart & Pitcairn, 2000).
What is Down Syndrome Down syndrome is a chromosomal disorder that is typically caused when a baby is conceived with 47 chromosomes instead
of the normal 46. Starting in the womb, this additional genetic material alters the course of the child's development. The most common form of Down
syndrome, Trisomy 21, occurs when a child is born with a full three copies of the 21st chromosome, rather than the normal two. In rare cases, Down
syndrome is caused by other chromosomal arrangements.
Children with Down syndrome typically have intellectual disabilities, hypotonia (low muscle tone) and characteristic facial features, such as upward
slanted eyes and a flattened nasal bridge. Except

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