At a young age of four months, little Aidan had to get a surgery to repair his abdominal muscle. In the surgery the doctors also discovered some distinct facial issues that was the problem that they diagnosed was the reason why Aidan had feeding issues. While time passed by Aidan’s mother and his preschool teacher began to grow more and more concerned. They both noticed that Aidan was far behind with his developmental setbacks. Aidan’s mother decided to bring Aidan to numerous clinical and genetic specialists, they weren’t able to come up with a diagnosis for poor Aidan.…
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.…
Since as early as 1980 much attention and discussion has been centered around the “Willie Lynch Speech”. This “speech” has been shared in every black arena ranging from barbershop prattle to collegiate lectures and discussions. Unfortunately, this piece is often digested without question of its legitimacy. Many readers believe that this single speech, delivered at a vaguely revealed location by an untraceable man has successfully predicted the future of African-Americans.…
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.…
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…
“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.…
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.…
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.…
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…
Angelman syndrome is a rare genetic disorder that affects around 1 in around 12,000-20,000 live births and affects both males and females equally. Angelman syndrome is very often misdiagnosed as autism or cerebral palsy. Angelman syndrome is not an inherited disease, and is instead caused by a change in the E3 ubiquitin protein ligase gene (UBE3A) on the maternal chromosome 15. This change prevents the chromosome from functioning properly. It occurs as a random event during the formation of eggs and sperm, or in the early stages of embryonic development.…
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),…
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.…
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.…
Symptoms of the disorder are obvious from infancy. Unlike most children eight to ten month old,…