Of course, the condition will most likely involve a heart problem, which is discovered at birth, along with a webbed neck, chest deformities, many birth marks, also known as café-au-lait spots, and a short stature. The features of this syndrome are not fully known, considering the fact that there are numerous characteristics and no two infected individuals have the same exact features. Like in most other disease cases, there are lists of more minor symptoms that can occur in an individual. In infants and newborns, feeding problems are present, due to a poor sucking reflex. Behavioral problems and developmental delays can occur, which causes the individual to achieve milestones slower, such as sitting and walking.
Obstructive uropathy occurs rather frequently (1 in 1000 live births). Prenatal intervention with vescioamniotic shunts is used to bypass or directly treat the obstruction to restore the amniotic fluid to normal levels. Amniotic band syndrome may result in amputations, constrictions and postural deformities secondary to immobilization. This abnormality is caused by the early rupture of the amnion and mesodermic bands originating from the chorionic side of the amnion and inserting on the fetal body. Some incidences of this disease may be fixed by
Spinal muscular atrophy, (Also known as SMA) is a genetic disease that affects voluntary muscle movement. Spinal Muscular Atrophy is caused by the mutation of the 5th chromosome. SMA usually affects the proximal muscles, such as shoulders, thighs, hips and upper back. This worsens over time. There are four types of Spinal Muscular Atrophy: Type one is the most common and severe and effects the baby while it is still inside the womb.
RARE PEDIATRIC DISEASE DESIGNATION FOR THE POTENTIAL TREATMENT OF DUCHENNE MUSCULAR DYSTROPHY Duchenne muscular dystrophy (DMD) is a serious and rare genetic disorder characterized by progressive muscle degeneration and weakness, primarily affecting boys. According to the Centers for Disease Control and Prevention, 15 out of every 100,000 males, aged between 5 and 24 years are affected. Symptoms usually start appearing in early childhood between 3 and 5 years of age. Gradually, the disease progresses with the weakening of skeletal or voluntary muscles in the arms, legs, and trunk. Due to this progressive muscle weakness, often the patients become bound to the wheelchair at an early age.
We should be concerned about Spina Bifida because the average life span for an individual with the condition is 30-40 years, with renal failure as the most typical cause of death. 80% - 90% of children with Spina Bifida will also develop hydrocephalus. The substance that shields the brain and spinal cord is called cerebral spinal fluid. When a child has hydrocephalus, cerebral spinal fluid is not able to move freely and will later on build up inside the head causing force inside the brain. What steps are societies taking in order to cope with new challenges in this condition in
Symptoms may range from a localized, limited form (ocular myasthenia), which affects the eye muscles, to a generalized, severe form, which affects many muscles, including those involved in breathing. Eye symptoms may manifest as drooping of the eyelids, blurred vision, or double vision. Other symptoms of myasthenia gravis include waddling or unstable gait, changes in facial expression, difficulty swallowing, impaired speech, shortness of breath, and weakness of the arms, hands, legs, and neck. When to See a Doctor Consult your doctor immediately if you experience difficulty
It is s a chromosomal condition associated with severe intellectual disability and physical abnormalities in many parts of the body. This case was interesting because it really showed the significant impact of parenting and access of care. I was involved in a case that could be easily addressed and managed if the parents were agreed about the treatment of their baby, since they had pervious baby with the same condition Trisomy 13 and he died at age 2months.
Are Youth Sports too Serious? Did you know children ages “5 to 14 account for nearly 40 percent of all sports-related injuries treated in hospitals”(Inetwork, 2017)? Youth sports are taken too seriously. It causes too many injuries, and puts too much stress on the kids. Also, it takes away from family time because they will always be playing their sport.
In 2012, 163,670 student-athletes ranging from middle through high school, were seen in emergency rooms for concussions. Injuries aren’t the only problem in these sports though. From 2008 to 2015, there were over 300 deaths caused from injuries that occured in sporting events in America (“At Your Own Risk”). Recently, a new kind of “unseen” injury is being reported in these high contact sports. Chronic Traumatic Encephalopathy (CTE) is caused by trauma to the brain and is an injury that needs to be studied more
Symptoms Some of the common symptoms of Shaken Baby Syndrome include fussiness or irritability, breathing problems, and pale or bluish skin. The baby may also start vomiting or refuse to eat. In some cases, the baby may have seizures, have difficulty staying awake, or experience paralysis. A baby who has fallen into a coma may have Shaken Baby Syndrome and needs medical attention right away. While some babies who have Shaken Baby Syndrome will show other symptoms of physical abuse, such as bruises, bleeding, or broken bones, sometimes you will not see physical symptoms of the injury.