Rett Syndrome is defined in infancy, seen mostly in girls, it can also be seen in boys but it’s rare.
Rett Syndrome is defined in infancy, seen mostly in girls, it can also be seen in boys but it’s rare.
Issue: Beth was 13 years old at the time of the case. Beth had been diagnosed with Rett’s syndrome which is a progressive disorder. In Beth’s case the Rett’s caused Beth to have little motor control such that she was confined to a wheelchair.…
Cri du chat Syndrome Cri du chat syndrome is an uncommon genetic condition that is caused by missing genetic material on chromosome 5. Specifically a part on the small arm (p) of chromosome 5 is absent. The disorder occurs in 1 in 20,000 to 50,000 live births according to the US National Library of Medicine. What causes this to happen is currently unknown.…
First, you said only one eye has leukocoria in this infant. Leukocoria is a common clinical feature of retinoblastoma, and this indication is usually a late sign of the disease (Balmer et al., 2006). Retinoblastoma can be either a hereditary disease and a nonhereditary disease. Generally, 60% of the cases of retinoblastoma are nonhereditary, with the remaining 40% being hereditary. Usually, 25% of the hereditary cases have family disease history, which is what we have in this case (NORD).…
The most common form of Tay-Sachs disease is Classic Infantile Tay-Sachs disease where the baby will be able develop normally until they are 3-6 months old (NHS Choices 2015). During the 3-6 month some of the symptoms will appear such as poor vision and being overly startled by noises as well as movement. After 8 months, more symptoms will follow (NHS Choices 2015), -vision will continue to worsen -muscle stiffness and weakness -difficulties swallowing -repeated fit (seizures) Late-Onset Tay Sachs Disease Typically happens with teens and is a rare form of Tay-Sachs Disease. The baby will develop just fine but once they get into their teen year, the symptoms start to show up.…
Rett Syndrome is a genetic mutation that is extremely rare and affects mostly girls. Rett Syndrome messes with the brain development, ability to move, speak, and breath normally. About one in every 10,000 to 15,000 girls can get this terrible disease. Other names for this disorder are RTS, RTT, Cerebral Atrophic Hyperammonemia, Autism-dementia-ataxia-loss of purposeful hand use syndrome, and etc. Rett Syndrome is caused by a mutation in a particular gene in the X chromosome.…
In this Research paper I will be providing basic information about Turner Syndrome (TS). People with Turner Syndrome or wishing to learn about this genetic disorder will find my paper useful for further research. Turner Syndrome is a random genetic disorder that affects women. Usually, a woman has 2 X chromosomes. However, women with Turner Syndrome, one of these chromosomes is absent or abnormal.…
There are three sexes in Salinas where being a pseudohermaphrodite is so common it’s accepted alongside male and female. The small village of Salinas in the Barahona Province of the southwestern part of the Dominican Republic, is like many other Caribbean hideaways. But there is one peculiarity that sets it apart from the rest of the world. At puberty one in 90 children born there make a natural transformation from girl to boy.…
Usher syndrome is a rare genetic disease that is the leading cause of inherited deaf-blindness, accounting for more than 50% cases.1 The prevalence of Usher syndrome is increasing with an estimated 4 per 100,000 births.2 It is an autosomal recessive, genetically heterogenous disease with three subtypes; usher subtype two being the most common and accounting for more than half of the cases. 3…
The Children’s Hospital of Philadelphia claimed that ¨Similarly, children with congenital rubella syndrome are at increased risk for development of autism. Risk is associated with exposure to rubella before birth but not after birth¨. MedlinePlus Medical Encyclopedia defined congenital rubella syndrome as ¨a condition that occurs in a baby whose mother is infected with the rubella virus¨. Withholding immunizations could result in dire consequences to the infant if the mother is not covered. Diseases that have been devastating in the past have disappeared by giving shots. The World Health Organization has certified that small pox was completely gone in 1979 due to vaccination.…
Rett syndrome is when gene “…MeCP2, a protein that dims the activity of many genes in nerve cells that influence synapse formation or function. The Absence of MeCP2 causes dendrites, tree-like structures on neurons that receive incoming messages, to contain fewer spines, or spots for synapses to grow. The synapses that do develop do not function normally” (Bilimoria). Affecting mostly females this syndrome causes the connections to be extremely weak. Rett syndrome causes slow growth, loss of normal movement and coordination, loss of communication abilities, abnormal hand movements, unusual eye movements, breathing problems, agitation and irritability, cognitive disabilities, seizures, scoliosis, irregular heartbeat, and pain (“Rett syndrome”).…
Turner's syndrome is a rare condition that affects females. It results when a sex chromosome (X chromosome) is either missing or partially missing. Turner’s syndrome can cause a lot of different medical problems such as short height, puberty failure, heart defects, learning disabilities and social adjustment problems. It is sometimes diagnosed before birth, during infancy or during their early childhood. Occasionally the diagnosis is delayed until the teen or young adult years in those who have mild signs and symptoms of Turner syndrome.…
Fragile X Syndrome it is an inherit mental retardation. It is cause by a gene on the X chromosome. It also depends on the number of CGG repeats (cytosine and guanine) which can affect physical, intellectual and behavioral effects. The physical feature include large testicles, high foreheads, large jaws and long face. It affect more males than females and affect males more severely.…
This is caused by the “complex disorder of brain development” (What is Autism). The U.S. Center for Disease Control and Prevention (CDC) says that there is a 1 and 68 chance that a child is diagnosed with autism. Also stated by the CDC boys are about one fourth as likely to have autism than girls are. There are ways to prevent autism and be able to control it, however if someone is diagnosed with autism there is no cure for this mental disease. People can take pills as the mother expecting a child if their is a history of autism in the family.…
Background Neurodevelopment is defined as “the dynamic inter-relationship between genetic, brain, cognitive, emotional, and behavioral processes across the developmental lifespan [1].” Neurodevelopmental disorders are defined as a group of conditions caused by damage to the neurological development process which cause long term delays in development. These disorders normally begin in infancy, when development is most crucial, and remain fairly consistent throughout adulthood. Neurodevelopmental disorders include but are not limited to the following: autism spectrum disorder (ASD), Rett Syndrome (RTT), developmental coordination disorder (DCD), cerebral palsy, intellectual disabilities (ID), attention-deficit/hyperactivity disorder (ADHD),…
Asperger Syndrome (AS) is a one of five autistic spectrum disorders. AS is also recognized by some as a neurological disorder. Sufferers of this syndrome share many of the same characteristics of autism except the accompanying disabilities. The syndrome can exhibit a variety of characteristics ranging from mild to severe. Those afflicted with AS have difficulty understanding what people around them think and feel.…