Joubert Syndrome Essay

Prader-Willi syndrome (P.W.S.) is a genetic condition that affects various body parts and is caused by loss of function of genes in a particular region of chromosome 15 (15q11-q13 region). P.W.S affects an estimated 1 in every 10,000 - 30,000 people worldwide. P.W.S. in some cases can be inherited or caused by maternal uniparental disomy or the deletion of chromosome 15. The genetic changes occur during the formation of reproductive cells (eggs and sperm) or in early embryonic development. This development most likely affects families without any former history of the disorder. There are currently no treatments for Prader-Willi syndrome or prenatal testing for this genetic disorder but there are ways to detect it in the child’s infancy.

and type 0 (prenatal). With an incidence of 1 in 10,000 births, it is anautosomal recessive disorder associated with severe neuromuscularweakness and premature death in the majority of

Rett syndrome is considered one of the autism spectrum disorders. Rett syndrome is a developmental disability disorder resulting in severe mental and physical deficits in female children. Rett syndrome is grouped as a pervasive developmental disorder (PDD) in which conditions are severe and pervasive, and that begin in early life and influence multiple areas of development. Rett syndrome, including the age of onset and the severity of symptoms, varies from child to child. Before the symptoms begin, however, the child generally appears to grow and develop normally, although there are often subtle abnormalities even in early infancy, such as loss of muscle tone (hypotonia), difficulty feeding, and jerkiness in

Source http://www.epilepsy.com/learn/types-epilepsy-syndromes/dravet-syndrome The majority of Dravet mutations are not inherited from either parent, as is the case with Jayden whose parents do not carry the gene that causes Dravet syndrome. It is common for patients with this condition to exhibit cognitive impairment, behavioral disorders, and motor

Johnson-Munson syndrome is a rare syndrome identified by missing abnormal vertebrae, fingers and toes and various deformities of the heart, lungs, intestines, pancreas and intestines. Ophanet a consortium of European partners defines a condition as rare. In the US population, less than 200,000 people can possibly be affected by Johnson Munson Syndrome or second type of Johnson Munson syndrome. (Orphanet 2015)

Rett syndrome (RTT) is a rare random brain & nervous system disorder that only affects girls due to it being an X-linked mutation and although it is genetic, it is not hereditary; it rarely affects boys, when it does the symptoms are more severe and the “babies rarely live past birth” (Bhandari, 2017). The babies usually go through a normal pregnancy and start to show symptoms after the first six months; they become more prominent at “12 and 18 months, and they can be sudden or progress slowly.” (Bhandari, 2017). Symptoms include “slowed growth, trouble with breathing, no language skills, problems with hand movements, muscles, and coordination” (Bhandari, 2017). There is no cure, but the best available treatments include “standard medical care

Kim Jong Un’s son, K.J. Jr. shocked the world by being born with the Noonan Syndrome! The Noonan syndrome is a condition that normally involves disabilities such as a heart problem found from the start of birth, short stature, a webbed neck, or chest deformities may be seen as well (. This is extremely depressing because K.J. Jr. amazingly beat the odds of one in 1000-2500 births that will have this type of genetic syndrome (Noonan Syndrome Support Group)! The Noonan syndrome is inherited along with birth and anyone may be born with the syndrome regardless of gender. This disease is often found in Canada, Holland, and the United States (Noonan Syndrome Support Group).

Spina bifida is a lifelong disability that affects the spinal column. In regards to childhood speech and language disorders, spina bifida affects different people in various ways. Although spina bifida is a disorder affecting the spinal cord, certain types may affect speech and language development, which may require speech therapy depending on the severity. Evaluation tools and methods are used to determine those individuals in need of speech therapy. Once evaluations have been administered individuals receiving proper treatment can hope to achieve age appropriate or at least functional language skills.

Rett Syndrome is a neurodevelopmental disorder often misdiagnosed as autism, cerebral palsy or a developmental disorder. Rett Syndrome affects girls and is characterized by normal early growth and development followed by a slowing of development and loss of hand skills, acquired speech, and slowing of head growth. It affects one in every 10,000 to 15,000 live female births and all races and ethnic groups. Rett Syndrome is not inherited or passed through generations, most cases are considered spontaneous. Most girls will live only to their mid twenties. With recent technology and medicine some girls are able to live up to thirty-five. This disease will leave affected females dependent on caregivers or family members for the entirety of their

scoliosis, cataracts , scars, overweight, Chrohn diseasChromosome Patterns The normal female has 46 chromosomes, of

Some of the diagnostic test Jennifer may expect would be a maternal blood test, amniocentesis, and a chorionic villus sampling test. These tests can tell her whether her baby has birth defects of the brain and spine (maternal blood test), also to see if the baby has chromosomal birth defects such as, Down syndrome, muscular dystrophy, and cystic fibrosis (amniocentesis test), and CVS test, which tests for the same birth defects as amniocentesis, the results just come back quicker, but do not give enough information, therefore an amnio test is recommended as well. The risks associated with these diagnostics can result in a miscarriage.

In addition, she states that her son who delivered in 2013 has developed seizures and she has an appointment with Vanderbilt in the next couple of weeks to where they may do genetic testing to see if there is any genetic basis for the seizures. She was told that there are some gene disorders that can be detected prenatally but we would need to know the exact tests or gene defect if indeed if her son has a genetic basis for his seizures. She will inform you or our office of the results of this

The main medical issues, in this case, are right arm and leg weakness along with speech and word-finding difficulties.

In a women’s 2nd trimester of her pregnancy, she can have a blood test called the “quadruple screen” to determine if her child has spina bifida. The fetus and placenta give off a protein called AHP (maternal alpha-fetoprotein), which will appear in the mother’s bloodstream. If the test shows a higher than average level of AFP (maternal alpha-fetoprotein) then it may indicate that the baby has a spinal opening. Sometimes doctors can diagnose with an ultrasound on the baby in utero, many times the malformation can be seen. However, the baby may not be diagnosed until birth. In this case, the doctor would run an MRI, CT, or X-ray to confirm the status of the

To discuss many of the issues relevant to this disorder, and to further expose the difficulties faced by the parents whom children suffer from this same condition, this interview report displays an extensive Q&A session