Tag Archives: autism

Schizophrenia And Autism

Scientists have found evidence of a genetic link between autism and schizophrenia, demonstrating that a relationship exists between the two conditions, and possibly others. The first signs of a connection between the the mental illnesses on the genetic level were observed in 2012, but research published earlier this year was able to pinpoint a specific mutation that is a causative factor in both schizophrenia and autism.

"This is a really exciting finding as it suggests that neurodevelopmental disorders such as schizophrenia and autism, which hitherto have been seen as different diseases may involve common underlying disease mechanisms," said Aiden Corvin, a professor at Trinity College in Dublin, Ireland, and a lead researcher in the study, in a statement. "This may have implications in the future for how we conceptualize and treat these conditions." It might mean, for instance, that treatments can be developed that specifically act on the effects of the mutation, the underlying problem, rather than the current hit-or-miss approach designed to address the symptoms of schizophrenia, and the training and cognitive treatments used for autism.

Schizophrenia may be the prototypical mental illness—it is the symptoms of schizophrenia that the phrase "mental illness" brings to mind for many people. This is because it is among the most common. However, autism is diagnosed in one in 88 people, a number growing as awareness of autism spectrum disorders spreads and people become more familiar with the condition and better able to recognize the signs. The conditions do have some overlap in symptoms. Neither schizophrenic nor autistic people have an easy time functioning normally in social situations. People with schizophrenia have difficulty because they are not properly perceiving reality; autistic people have trouble reading social cues.

In fact, in some cases, the difference between autism and schizophrenia may be down to what the person offering the diagnosis is looking for. The scientists involved in the 2012 study recognized the similarities. They also found that not only are the relatives of a schizophrenic person more prone to schizophrenia themselves, siblings of people who ha also have 12 times the risk of autism.

Autism Awareness

It’s difficult to pin down how many people have autism. The question is highly political, and people with different agendas will attempt to justify different numbers. In addition, the exact boundaries of the condition are difficult to define—particularly around the question of how severe autism needs to be before it counts, and of whether Asperger’s syndrome is a form of autism or an entirely separate thing, and if it’s a form of autism where the line is and whether Asperger’s and autism cases should be grouped together. Current thinking is that autism is a spectrum, ranging from Asperger’s on one end to people facing quite profound obstacles on the other, but even this view is not without controversy. In addition, and in part because it is so nebulous, autism is underdiagnosed, particularly in adults.

Added to this is a question of what it means to be autistic. In recent years especially, there has been a move away from the medical model, and from classifying autism as a disease. Some advocates say the experiences of autistic people should not be distinguished from those of people who are not autistic, not pathologized. There is definitely a great deal of push back against the notion of curing autism, or treating it; frequently, advocates speak of dealing with it as more like a compromise, with people with autism asking that the rest of the world meet them halfway.

However autism is classified, researchers are continuing to investigate its origins. The idea that autism is caused by vaccines has been thoroughly put to rest by the scientific community, with only people who reject science still maintaining the claim, but what the causes are has proved more difficult to pin down. The most recent hypothesis is that autism originates in utero, as the brain is built while a fetus is in the womb. In the fetuses of autistic children, critical pieces are omitted.

This finding suggests that early intervention—in infancy and toddlerhood, when the brain is at its most malleable—may help ease the child’s adjustment by coaxing the brain to repair these lacunae. This will help the child best adjust to living in a world of non-autists, and dealing with the differences that entails. Unfortunately, autism, particularly in milder forms, isn’t easy to recognize during this period.

Neurological Conditions, Mental Illness, And Developmental Disability

Scientists investigating developmental disability have come to the conclusion that these disabilities, mental illnesses, and neurological disease are all aspects of the same type of disorder. Under current models, the three types of condition are perceived as clinically distinct, meaning that they are treated as different and unrelated disorders, with different causes, different prognoses, and different courses of treatment. However, there is a growing body of opinion that, rather than being distinct, these conditions exist along a continuum, and are all fundamentally linked.

"Recent genetic studies conducted in thousands of individuals have shown that identical genetic mutations are shared among neurodevelopmental disorders that are thought to be clinically distinct," said autism researcher Andres Moreno De Luca, M.D., a co-author of a recent article laying out this new model, in a statement. "What we have seen over the past few years is that genetic mutations that were initially found in individuals with one disorder, such as intellectual disability or autism, are then identified in people with an apparently different condition like schizophrenia, epilepsy, or bipolar disorder."

This model means that the research techniques and approaches used for mental illnesses such as schizophrenia can also be brought to bear on intellectual disabilities. It means the treatment approaches used for mental illnesses may also have application for neurological disorders thought to be untreatable. Perhaps more importantly, demonstrating an underlying genetic or biological abnormality linking all these conditions could go a long way towards eroding the stigma attached to them, a stigma which in some cases does more to impede people in society than the conditions themselves.

As for what this underlying cause is, this remains unclear. However, recent studies have found a link between treatments for male infertility and both developmental issues and autism in the resultant offspring. The risk was associated with an in vitro technique called intracytoplasmic sperm injection, in which a miniature syringe is used to inject a single sperm cell directly into an ovum under a microscope. This procedure is reserved for severe cases of male infertility.

The Complexities Of Oxytocin

It’s called the love hormone, but oxytocin isn’t that, exactly. It is heavily involved in the mental processes behind both maternal and romantic bonding, but it’s also involved in a broad and diverse spectrum of human mental and emotional activities, including labor and childbirth, sexual response, wound healing, social behavior, stress reduction, trust, and generosity. Some scientists even think the hormone can, paradoxically, have the opposite effect, promoting racist attitudes by drawing groups closer together and uniting them against perceived outsiders.

That aside, due to the importance of oxytocin in social functioning, there has been some investigation of the therapeutic use of the hormone in helping people with autism better adjust to the outside world. In a recent study, autistic children who received oxytocin showed improvement in emotional understanding and performed better on social tasks. Oxytocin also boosted what psychologists call "social attunement," meaning the capacity to recognize situations in which social interaction is necessary and to behave accordingly.

Synthetic oxytocin has several therapeutic uses already. As an injection, oxytocin is sometimes administered to women undergoing difficult labor, to help in that process or to help stimulate contractions and minimize bleeding. Nursing mothers are sometimes given oxytocin as an injection or nasal spray to improve lactation. In addition, people with anxiety can sometimes benefit from oxytocin nasal spray in difficult situations.

On the other hand, too much oxytocin is also a danger. In addition to strengthening the sometimes undesirable ingroup/outgroup dichotomy, the boost to social reasoning skills, especially in people who don’t have any sort of prior deficit in that area, can lead to an oversensitivity to the emotional states of other people. In particular, people with too much oxytocin—generally as a result of being administered a dose of synthetic hormone, rather than an excess being produced by the brain itself—overreact to emotional cues and may tend to over-interpret them, reading between the lines unnecessarily.

Lupus and Pregnancy

In studies, the autoimmune disease lupus strikes different people at different rates. It has long been known to be primarily a disease affecting women, African Americans, and teenagers and adults under 40, but a recent study at the University of Michigan found that the risk for people in all three of these groups is higher than was previously recognized. In addition, young African-American women are at higher risk than other groups for life-threatening complications from the condition, even with treatment. Scientists could not say definitively why this population was more prone to complications, though they said it might be related to being diagnosed younger.

The complications include kidney failure, anemia, blood clotting, stroke, and cardiovascular disease. Lupus is characterized by non-localized inflammation, which can cause a host of health problems, for example when it affects the brain, heart, or lungs. Among the more severe complications are bone necrosis that weakens the bone, usually in the hip, and infections due to a lupus-ravaged immune system. People with lupus are prone to urinary tract infections, salmonella, shingles, and herpes. In addition, lupus increases the risk of cancer.

Lupus patients are also more vulnerable to complications during pregnancy, such as preeclampsia, and are more likely to miscarry or to deliver prematurely. Their children are also more likely to have autism spectrum disorders. Prenatal exposure to certain types of the proteins called cytokines is a significant risk factor for autism, and women with lupus frequently have the cytokines involved, and children of lupus sufferers were diagnosed with spectrum disorders more than twice as often as children of healthy women.

Treatment for lupus includes immune suppression to stop the immune system from attacking healthy tissue. Antimalarial drugs can also help fight the disease, as can anti-inflammatories. These medications can be costly, and can have severe side effects—immune suppression can boost infection risk, like lupus itself does—and some patients have been found to be taking only a third of the prescribed amount of medication.. The medication not only treats the symptoms of the disease but also slows its progress.

New Research For Autism Treatment

One in 88 children born in the U.S. is diagnosed with autism, and scientists are not sure why—but they do know that number is on the rise. The condition is the leading cause of delayed development in children. Autism spectrum disorders generally become apparent before age three, with impairments in communication, difficulty with socialization, and repetitive behavior.

There is no known cure for autism. In fact, there is some controversy over whether the condition should be cured. However, there is broad agreement that people with autism need help integrating into the broader society, and the earlier treatment is started, the more successful it generally is. Interventions generally focus on resolving or accommodating the communications difficulties and maladaptive behavior patterns, and teaching children techniques for better socialization.

There is now some speculation that autism spectrum disorders may have an autoimmune component, and research into that possibility, and what it could mean for treatment, is ongoing. One study is looking at stem cells in umbilical cord blood to investigate the possibility of using these stem cells in therapies. The notion is that they can repair the altered neurochemistry that specifically causes difficulties in communication.

“This is the start of a new age of research in stem cell therapies for chronic diseases such as autism, and a natural step to determine whether patients receive some benefit from an infusion of their own cord blood stem cells,” said Michael Chez, M.D., director of Pediatric Neurology with the Sutter Neuroscience Institute, in a statement. Cord blood stem cells have been used to treat cancer and immune diseases.

“We have evidence to suggest that certain children with autism have dysfunctional immune systems that may be damaging or delaying the development of the nervous system,” Dr. Chez said. “Cord blood stem cells may offer ways to modulate or repair the immune systems of these patients which would also improve language and some behavior in children who have no obvious reason to have become autistic.”

Possible Treatment For Fragile X

According to new research, some neurological disorders may be reversible. In a study, doctors were able to counter the effects of a genetic disorder called fragile X syndrome in the brains of mice.

The most common inherited intellectual disability in boys and men, fragile X, caused by an abnormality in a gene found on the X chromosome, can lead to delayed crawling, biting or clapping the hands, impulsive behavior, language delay and avoidance of eye contact. It affects about one in 3600 boys, with about six times as many men being carriers for the condition.

Currently, fragile X is untreatable, although treatments for the attention deficit, hyperactivity, and anxiety often stemming from it are effective. However, in mice, a drug targeting the proteins in the brain associated with fragile X proved effective not only in juveniles but also in full-grown adults.

Although the drug in question is not expected to be tested in human patients, other drugs targeting the same protein, which is called mGlu5, are being investigated. The results of the mouse study strongly suggest that these researchers are on the right track.

Improvement in Autism

According to recent reports, autism diagnoses are on the rise. that doesn’t necessarily mean the condition is getting more prevalent, however. It is likely that more parents of autistic children are recognizing the syndrome, and particularly milder forms of it, than previously, and are more apt to have their children diagnosed.

Autism typically manifests before the autistic individual turns three. It causes a deficit in social and communication skills, such as appropriate social interactions and responses to stimuli such as sound and touch. Autistic people, particularly children, have a strong need for routine and are frequently observed to engage in repetitive movements.

Although it is not something people outgrow, autism is associated with normal to high intelligence and except in the severest cases adults and older children are often able to learn and explain coping and compensating mechanisms. Autism is not the inability to learn social skills; rather, it is the need to do so, and while those skills do not come as easily to autistic people as to people without autism, they can usually be acquired with effort to a certain degree.

The course of the condition is not fully understood. About ten percent of children initially diagnosed with severe autism are able to become high-functioning, in many cases as a result of the right kind of therapy and adult interactions between diagnosis and around age eight.