Mutations in TRAPPC9 have been identified in patients with Non-Syndromic Autosomal Recessive Mental Retardation (NS-ARMR). These mutations were characterized in separate families of Middle Eastern Arab descent. One separate case involves three consanguineous Israeli Arab girls carried a TRAPP9 truncation (c.1422C>T)156. The second case was identified in a large consanguineous Pakistani family193, patients were characterized with a nonsense mutation R475X in exon 7. Another mutation that resulted in a frameshift and premature truncation causing p.Leu772TrpfsX7 was caused by a homozygous 4bp deletion: c.2311-2314 delTGTT has been identified in Iranian family166.…
Since this disorder is known in Africa, scientists believe that this disorder is caused by the Epstein-Barr virus in children with immune systems weakened by chronic malaria, which is popular in Africa. This is what causes the chromosomal mutation of translocation. Are there prenatal tests for this disorder? You can get a bone marrow biopsy, chest x-ray, and CT scan of the chest.…
The Effects Of Treacher Collins Syndrome Treacher Collins Syndrome is a rare incurable genetic disorder that most often affects the jaw, cheekbones, eyes, chin, and ears. It was identified dating all the way back to Ancient Rome, however, research as to what exactly it was and the causes of TCS was not studied until the 1800s by an English ophthalmologist named Edward Treacher Collins. In 1884, he began an internship at the Royal London Ophthalmic Hospital, a position which later was turned into a career that lasted about 48 years. During the 48 years Collins resided at Royal London Ophthalmic Hospital, he was primarily positioned as the pathologist and curator of the hospital's facilities museum. Collins witnessed several people with the deformities and became extremely interested about the disorder, which began his research on it, but did not describe the genetic disorder in medical literature until 1900.…
There were no accidents or illnesses in the baby’s early development. Also, there were no known environmental factors out of the ordinary that would cause concern. The doctor performed several tests and assessments which resulted in a diagnosis of a form of autism, known as Asperger’s. Even though, for two years, they knew something was wrong, the diagnosis devastated them and they began to blame each other. Once the blaming stopped, they were able to work together, focusing on what was best for…
Angelman Syndrome (AS) is a genetic disorder that causes speech problems, intellectual impairment, sleeping difficulties, and seizures. This condition causes a very happy, excitable personality in the patient resulting in outbursts of laughter and frequent smiles. In children, AS can also cause hyperactivity. With age, the sleeping problems and excitable behavior subside. Curvature in the spine (scoliosis) can also be caused by Angelman Syndrome.…
At one year’s old he had problems eating, at two he was not talking, and at three years of age he was having trans like episodes in which his eyes would glaze over, his mouth would move, and he would rock back and…
Fetal Alcohol Syndrome is a congenital syndrome. It is known to be caused by alcohol consumption by the mother during pregnancy. Intellectual and mental disabilities, stunt of growth, behavioral problems, learning disabilities and a lack of sense for cause and effect are just a few of the characteristics of Fetal Alcohol Syndrome. New research shows that the father's’ drinking habits prior to conception can also contribute to fetal abnormalities. Fetal Alcohol Syndrome is 100% preventable.…
This disorder has had many names now retired due to their social incorrectness; one of those including ‘cat-eye syndrome’. The most recent renaming came in 2005 and workers from the Pennsylvania Medical Center were working on this condition that affects the eleventh chromosome, and one of these doctors was named Dr. Beverly Emanuel, and thanks to her hard work it was renamed after her. “Emanuel syndrome is a condition in which genetic material from two chromosomes are crossed, causing an extra chromosome and numerous health problems,” (Kelly 218). ‘Translocation’ is also a term often used while referring to Emanuel Syndrome (Kelly 218). Some problems caused by Emanuel Syndrome may include poor muscle tone at birth, distinct facial features, ear disorders, cleft palate, failure to thrive, developmental delay, heart defects, kidney issue, sex organ abnormalities, and severe intellectual disabilities.…
Introduction Children with disabilities experience a lot of different environments that help them develop appropriately. In some cases, some children with disabilities have been clinically diagnosed with their disability; however, there are some that are in the beginning process of discovering what disability they have. I had the opportunity to interview two family members of a disabled child named Tanea Pittman. I learned and discussed their involvement with her at home and school. As well as attending and observing an IEP meeting with the family.…
Fragile X syndrome or Martin Bell syndrome is a genetic passed disease that affects the early devolvement of the brain that causes mental retardation and has many of the same physical appearances. Fragile X affects males more often than females. This inherited disease is extremely rare and affects 1 out of 5000 kids. This syndrome is caused by a mutation on the X chromosome more specifically the FMR-1 gene that generally affects the early devolvement of the brain. Many symptoms of this disease include delay in talking, extreme anxiety, and much hyperactive behavior.…
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),…
Symptoms of the disorder are obvious from infancy. Unlike most children eight to ten month old,…
“When everyone's super, no-one is.” Back in 2004, the movie 'The Incredibles' was created by Pixar. The 2 main characters of this movie are Mr incredible and syndrome. Mr incredible is the protagonist, whilst syndrome is the antagonist of this story. They have pretty much the same goal, to save the world and become a popular superhero. Their backstory isn't one if the brightest because Syndrome always tried to help Mr. Incredible but he kept trying to get him to skedaddle away.…
Prenatal exposure to alcohol has a profound effect on development and health. Fetal Alcohol Syndrome (FAS) is an umbrella term referring to the various effects and conditions caused by prenatal exposure to alcohol. Lasting effects may include learning and growth deficits, central nervous system dysfunction, behavioral dysregulation, and sensory integration dysfunction. Early developmental trauma, such as prenatal alcohol exposure, has a persistent effect on a child’s development and can lead to delays in social, behavioral, and neuropsychological development. By recognizing early developmental trauma, parents and caregivers may provide the best support to their child.…