False Diagnoses

Despite the fact that autism was first discussed in the 1940s, very little was known about the disorder until recent decades. Today, scientists are still unsure of the exact cause. Research suggests that genetics and the environment both play a role and that there is not a single cause. The case for genetics is supported by the fact that children are two to eight percent more likely to have autism if they have a sibling with autism. Studies have also been done on the link between vaccines and autism, but currently there is not enough evidence to suggest a correlation exists between the two (National Institute of

While there are many theories there is no single cause of autism. One theory assumes multiple factors interacting in complex ways (i.e. genes, environment and brain) can cause autism. Genetics play a role but do not explain the full picture or the recent increase in reported cases. According to Volkmar and Weisner (2009), "Identical twins have identical genes, while fraternal twins share only some genes. The implication of this finding was that there was potentially a very strong genetic contribution in autism. A number of studies have shown that this is the case. " (p. 26). There are medical conditions associated with autism which include, phenylketonuria, congenital rubella, tuberous sclerosis, and Fragile X. The strongest associations are with Fragile X, a genetic condition causing intellectual disability and tuberous sclerosis, a genetic disorder that causes tumors to form in many different organs, primarily in the brain, eyes, heart. There is no strong evidence that environmental etologies cause autism. Some researchers assume that environmental toxins can increase the rate of autism, but evidence proposed for environmental factors is based on a case by case report which is difficult to interpret (Volkmar & Weisner,

Doctors misdiagnose between 10-15% of medical cases each year. These misdiagnosed patients have been linked to physicians being too overconfident. According to Psychology Today, in a study performed by a cognitive research psychologist, Ashley Meyer, Ph.D. and her colleagues, the researchers gave 118 physicians four cases to diagnose with two cases being easy to diagnose and the other two being difficult. The researchers asked the physicians how confident they were in their diagnosis. The results indicated that the physicians got 55% of the diagnoses correct for the two easy cases; 5% of the diagnoses were correct for the difficult cases. When asked to rate their confidence on a scale of 0-10, the physicians rated their confidence

Secondary causes of autism include pre-natal care, environmental factors, chromosomal abnormalities and genetic disorders. Environmental factors most notably, are the role of vaccinations, specifically those with the preservative thimerosal (Caronna, Milunsky, & Tager-Flusberg, 2008). The most common genetic disorder associated with autism is fragile X syndrome. Scientists continue to investigate the etiology of ASD. Current research seems to support two etiologies of autism: Early Onset of Autism vs. Regressive Autism (Bristol-Power, 2006). There is optimism that specific causes and risk factors will be identified. The results of future investigations will facilitate enhanced screening, prevention, and therapy for "at risk" and autistic patients (CMN, 2010).

Parents try their best to keep their children from getting hurt or sick, but no matter how hard they try, sometimes something will always go wrong. We cannot avoid all uncertainties; Autism is among one of these uncertainties that parents try their best to avoid. According to the center for disease control One out of every one hundred and fifty children are born with autism each year in America, that is one percent of American children with autism, eighty percent of which are male and about forty to twenty percent of females (CDC). One point five million children have already been living with this diagnosis, of autism long before the media brought into public attention, so as the rise of autism increases it is also important that the knowledge of autism increase.

Symptoms typically are apparent before children turn 3 years old. (7). When individuals are born as an identical twin or have first degree relatives who have autism, they are automatically at a higher risk for developing it themselves. Other risk factors include immune dysregulation, altered short chain fatty acids, genetic mutations involving the metabolism of vitamin D, infections, teratogens, or antibodies maternally. For every 68 boys who are born, 1 will likely have autism, as boys are about five times more likely to present with autism than girls are. (3). When the brains of patients with Autism Spectrum Disorder are studied and compared with those who do not have the disorder, there are obvious differences. In the Autism Spectrum Disorder brain, there are alterations to the striatal circuits, a dysfunction in canonical neural circuits, and an abnormal basal ganglion connectivity. These striatal dysfunctions of the brain are evidence as to why abnormal behaviors occur in autistic patients (repetitive grooming, stereotypic motor routines, and deficits in social interaction and decision-making). There may even be evidence that links genetics to these specific neural circuits. (8). When MRI’s are taken on young autistic patients, the hyperplasia of their cerebral cortex can often be seen. Because the frontal and temporal lobes are important for social functioning and language development, these anatomical anomalies are likely to underlie the pathophysiology of autism.

Misdiagnosing is something that happens often and can result in medical malpractice. When seeking medical advice you put your trust into the health care provider to take the appropriate measures to determine the correct diagnosis. However, there are times that providers can make mistakes which leads to an improper or delayed diagnosis. Failing to properly diagnose a patient can prevent patients from receiving the correct treatment. By receiving improper treatment patients are at a risk of further injuries and possible fatalities. “The most common missed diagnoses for adults were cancer and heart attacks. Other that were commonly-occurring were appendicitis, ectopic pregnancy, and bone fractures. For children, the most missed diagnoses were

Mistakenly most of us see Autism as a genetic disease and it is not, so it is time for the parents of autistic children to stop blaming themselves.

Autism spectrum disorder (ASD) refers to a group of neurodevelopmental disorders that is characterized by abnormalities relating to social, behavioral, cognitive and language skills. The genetic architecture of ASD is comprised of a variety of rare mutations. These mutations include monogenic conditions involving autistic symptoms. Furthermore, single nucleotide variants and de novo copy number variants add to disease susceptibility.

The number of children diagnosed with autism spectrum disorders, commonly abbreviated as ASDs, is gradually increasing. Today, about one in sixty-eight children have been diagnosed with one of these four disorders, which is a huge increase from one in one hundred fifty, as seen in 2000 (“Data & Statistics” 1). ASDs often coincide with other developmental, psychiatric, neurological, chromosomal, and genetic diagnosis, such as an intellectual disability, attention-deficit hyperactivity disorder (ADHD), epilepsy, Down syndrome, or cystic fibrosis (“Data & Statistics” 1). The four different types of ASDs are autistic disorder, also known as classical autism, Asperger’s syndrome, pervasive developmental disorder, not otherwise specified (PDD-NOS),

They also discovered that these individuals with severe autism hardly ever married or had children, so the parenting offspring resemblance is not observed. Their findings is an important impact for genetics research more then just looking zt autism as the main

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Its general knowledge that people who suffer from autism have low levels of communication if they can communicate at all and struggle with social interaction. But Baron-Cohen believes that a child is more likely to have autism if born to

Researchers all over the world are devoting considerable time, and energy into finding the answer to the critical question, “What exactly causes autism?” Although a single specific cause of autism is not known, researchers believe several genes as well as environmental factors such as viruses or chemicals, contribute to the disorder. “But finding the genes that cause the disorder has proven far more complicated than originally thought” (DeNoon). Scientists estimate that, in families with one autistic child, the risk of having a second child with the disorder is approximately 5%, or 1 in 20, which is greater than the risk for the general population. This genetic basis is believed by researchers to be highly complex, probably involving several genes in combination.

Dawson’s et al., (2002) research shows how individuals with autism have abnormal brain developments and can pin point multiple brain regions that are affected. Evidence also shows that these developmental abnormalities in the brain can be caused by both environmental and genetic factors. Within autism there are two distinct ways