Friday, July 6, 2012

Scientists identify gene linked to facial, skull and cognitive impairment

A gene whose mutation results in malformed faces and skulls as well as mental retardation has been found by scientists. Credit: Phil Jones

A gene whose mutation results in malformed faces and skulls as well as mental retardation has been found by scientists.

They looked at patients with Potocki-Shaffer syndrome, a rare disorder that can result in significant abnormalities such as a small head and chin and intellectual disability, and found the gene PHF21A was mutated, said Dr. Hyung-Goo Kim, molecular geneticist at the Medical College of Georgia at Georgia Health Sciences University.

The scientists confirmed PHF21A's role by suppressing it in zebrafish, which developed head and brain abnormalities similar to those in patients. "With less PHF21A, brain cells died, so this gene must play a big role in neuron survival," said Kim, lead and corresponding author of the study published in The American Journal of Human Genetics. They reconfirmed the role by giving the gene back to the malformed fish – studied for their adeptness at regeneration – which then became essentially normal. They also documented the gene's presence in the craniofacial area of normal mice.

While giving the normal gene unfortunately can't cure patients as it does zebrafish, the scientists believe the finding will eventually enable genetic screening and possibly early intervention during fetal development, including therapy to increase PHF21A levels, Kim said. It also provides a compass for learning more about face, skull and brain formation.

The scientists zeroed in on the gene by using a distinctive chromosomal break found in patients with Potocki-Shaffer syndrome as a starting point. Chromosomes – packages of DNA and protein – aren't supposed to break, and when they do, it can damage genes in the vicinity.

"We call this breakpoint mapping and the breakpoint is where the trouble is," said Dr. Lawrence C. Layman, study co-author and Chief of the MCG Section of Reproductive Endocrinology, Infertility and Genetics. Damaged genes may no longer function optimally; in PHF21A's case it's about half the norm.

"When you see the chromosome translocation, you don't know which gene is disrupted," Layman said. "You use the break as a focus then use a bunch of molecular techniques to zoom in on the gene." Causes of chromosomal breaks are essentially unknown but likely are environmental and/or genetic, Kim said.

Little was known about PHF21A other than its role in determining how tightly DNA is wound in a package with proteins called histones. How tightly DNA is wound determines whether proteins called transcription factors have the access needed to regulate gene expression, which is important, for example, when a gene needs to be expressed only at a specific time or tissue. PHF21A is believed to primarily work by suppressing other genes, for example, ensuring that genes that should be expressed only in brain cells don't show up in other cell types, Kim said.

Next steps include using PHF21A as a sort of geographic positioning system to identify other "depressor" genes it regulates then screening patients to look for mutations in those genes as well. "We want to find other people with different genes causing the same problem," Layman said, and they suspect the genes PHF21A interacts with or regulates are the most likely suspects. It's too early to know what percentage of Potocki-Shaffer syndrome patients have the PHF21A mutation, Kim noted. "Now that we know the causative gene, we can sequence the gene in more patients and see if they have a mutation," Layman said.

They also want to look at less-severe forms of mental deficiency, including autism, for potentially milder mutations of PHF21A. More than a dozen of the 25,000 human genes are known to cause craniofacial defects and mental retardation, which often occur together, Kim said.

Provided by Georgia Health Sciences University

"Scientists identify gene linked to facial, skull and cognitive impairment." July 5th, 2012. http://medicalxpress.com/news/2012-07-scientists-gene-linked-facial-skull.html

Posted by
Robert Karl Stonjek

What is the difference between schizophrenia and multiple personality disorder?

What is Multiple Personality Disorder

One of the biggest confusions people have is - 'what is multiple personality disorder, and how is it different from schizophrenia'. In reality, these two mental illnesses are quite different. While schizophrenia impairs the ability of an individual to think and function properly, multiple personality disorder (MPD) leads to several split personalities. In schizophrenia, a person may have hallucinations and delusions; however, in MPD, the person is completely lost and detached from emotions and feelings.

Definition

Now known as dissociative personality disorder (DID), multiple personality disorder is a medical condition that affects an individual to such an extent that his lifestyle is spent in daydreaming, and he or she is completely lost in the moment. We all often experience mild dissociation from our thoughts and surroundings. There are moments when we're completely lost in our thoughts. Still, in multiple personality disorder cases, there is a complete alienation of the person's thoughts, feelings, memories, actions, and sense of identity, and he/she cannot make any possible connections with any of his thoughts and feelings in the real world. Some of the most prominent symptoms of split personality are disassociating himself from any emotions, violent trauma or painful experience from himself and remaining aloof from any feelings.

Causes

Multiple personality disorder is believed to stem from severe mental trauma during childhood, especially repetitive forms of physical and sexual abuse. In fact, theoretically, this disorder is linked to the interaction of some overwhelming stress due to any form of abuse in childhood or poor upbringing (parental neglect, poor child care) of the child in formative years. Statistics state that most patients suffering from dissociative personality disorder have gone through some form of child abuse during their formative years.

The theory that is related to the causes of multiple personality disorder is known as developmental theory. According to this theory, split personality symptoms begin to appear during adulthood or teenage; the person consciously tries to avoid relating to or thinking of any feelings of sexual abuse and torture during his childhood. This avoidance creates deep dissociation of the person from the surroundings and from any emotions. The development theory also states that the memories and feelings of any traumatic experience may go into the subconscious mind and resurface in the later years of life. Besides these, the development theory also signifies that the alienation from past occurs many times in the child's growing phase, leading to the development of split personalities during adulthood.

Treatments Multiple personality disorder treatment is complicated owing to the difficulties in diagnosing this disorder, which is done with the help of a multiple personality disorder test. Psychotherapy is the primary tool for the treatment of MPD. While dealing with MPD or DID, therapists and psychologists help patients get comfortable with people related to them. They first try to open the person emotionally so that they can express themselves without any fear of the past. This is very important because the person can become very pessimistic and suffer severe attacks of past trauma and may go more into depression and anxiety.

Many therapists work together to help the person co-exist in many personalities which is a very difficult task. Developing techniques that help to heal patients from memory lapses, forms the most essential part of a medical treatment. Medications are other options for the treatment of MPDs. However, they've to be carefully monitored. In recent years, self-help groups for MPDs are coming openly on online communities to help each other with these disorders.

Understanding multiple personality disorders is very difficult, and cases of MPD must be referred to experts who have treated people with such disorders. Only experts have the ability and understanding of various symptoms and solutions of this disorder. So expert consultation is a must.

By Kundan Pandey

"What will I have for dinner?"

"Is it going to rain later?"

"I wonder what she meant by that."

Questions or comments silently passing through our minds reflect how most of us think; they’re normal. When the comments heard internally are the voices of other people, however, then psychiatrists suspect schizophrenia.

Among the myths surrounding schizophrenia, one of the most persistent is that it involves a "split personality," two separate and conflicting identities sharing one brain. A National Alliance on Mental Illness survey found that 64 per cent of the public shares this misconception.

"It’s a widespread misunderstanding," says Randon Welton, assistant professor of psychiatry at Penn State Milton S. Hershey Medical Center. "It’s based on the name. If you go to the Greek roots of the word—schizein, meaning splitting and phren, meaning mind—you have "split brain" or "split mind." However, the intended reference is to a split between rationality and emotions, not a split within a personality, explains Welton.

More appropriately, Split personality is an old name for multiple personality disorder, which is an outdated name for dissociative identity disorder (DID), an officially recognized but still controversial diagnosis. Welton notes that DID came to the public’s attention following the release of books and films such as The Three Faces of Eve and Sybil, accounts of women who developed multiple, distinct personalities following severe abuse as children.

"I would describe DID as a trauma-based illness," Welton says. Those affected by it have "at least two and often more distinct identity states which each have fairly consistent patterns of relating to the environment." The American Psychiatric Association definition specifies that "at least two of these identities or personality states recurrently take control of the person's behaviour."

By contrast, Welton describes schizophrenia as "a largely genetic illness that seems to be clustered within families. It seems to be more neurodevelopmental, influenced by how the brain develops. It usually presents in late teens to young adulthood and is more common than DID, with 2.2 million Americans living with the disease. Explains Welton, "You see a gradual, overall decrease in functioning with acute exacerbation, lasting weeks or months, of overtly psychotic symptoms--unless they are caught and treated."

While trauma is associated with both disorders, Welton explains that "the traditional difference is that with schizophrenia, the trauma tends to follow the disease. It is a consequence of the illness; it is not causative. Trauma doesn’t make someone have schizophrenia, whereas it is a reaction to the trauma for almost everyone with DID I’ve ever heard about." Schizophrenia is classified as a psychotic disorder and managed primarily through drugs, whereas DID is considered a developmental disorder more responsive to psychotherapy and behavioural modifications.

On the surface, the difference between the two disorders seems clear-cut. But some psychiatrists, such as Brad Foote of the Albert Einstein College of Medicine, warn their peers that it may be possible to confuse the two conditions early in treatment. This may happen if voices of alternate personalities in a case of DID "leak through" and comment on events or talk directly to the core, central personality without completely taking it over.

"Traditionally, any time a patient reports hearing voices like this, it was a strong indication of schizophrenia," Welton says. "Psychosis is not a diagnostic key for DID, but it is a common finding in that they will hear one personality talking to another or a personality commenting on them."

If these observations are accurate, Welton says "it would be very easy to put that person into a psychotic disorder category because you did not ask the right questions or you didn’t ask in the right way."

Hearing voices may be more complicated than doctors or patients knew.

—Dean A. Haycock

Schizophrenia is NOT Multiple Personality Disorder

“Acting is not that far from mental disease: An actor works on splitting his character into others. It is like a kind of schizophrenia.” -Vittorio Gassman

Most people erroneously believe schizophrenia is a mental disorder characterized by alter egos or multiple personalities. This is probably because of simple linguistic confusion and the recurring mistakes in popular culture and online. I just want to set the record straight because it’s important not to perpetuate misinformation.

“Schizophrenia beats dining alone.” -Oscar Levant

Schizophrenia is characterized by emotional numbness, auditory hallucinations, paranoid or grandiose delusions, and disorganized thoughts and speech. People with schizophrenia have a diminished sense of reality – a completely different experience than multiple personalities.

“Never get into an argument with a schizophrenic person and say, ‘Who do you think you are?’” -Ray Combs

In fact, the terms multiple personalities, split personalities, or alter egos are all outdated. Dissociative Identity Disorder is the current name for this disorder.

“Roses are red, violets are blue, I’m schizophrenic, and so am I.” -Oscar Levant

So where did the confusion come from? It may have been from the translation of the Greek words “skhizein” and “phren,” from which “schizophrenia” is derived. The former means “split,” and the latter means “mind,” but the word was intended to mean that the functions of the mind were split.

“The idea of stardom was difficult to grasp. It was like being schizophrenic; there was her, the woman on television, and the real me.” -Jessica Savitch

And nowadays, people use the word “schizophrenic” colloquially, which makes even less sense. For example:

“I’m really schizophrenic about that, because on the one hand I would say, yes there is, there’s something inherently, even violent about it, it’s wild and raw and all this.” -Lester Bangs

“I feel a little schizophrenic because my life is so totally different from here, obviously. And the French values are so different from American values.” -Adrian Lyne

“In Poland, my audience is all women between 18 and 30. At U.S. conventions, you have the fantasy and science fiction crowd. At Harvard you have an entirely different audience. It’s so schizophrenic.” -Jonathan Carroll

As Ann Kring – a clinical psychology professor at the University of California at Berkeley – says, it’s a little bit like saying “Oh, quit being so diabetic about it.” It makes no sense. Furthermore, Kring says we should not label people as schizophrenics but “people with schizophrenia.” Dehumanizing someone with a stigmatic label should obviously be avoided, just as misusing schizophrenia should. As HealthyPlace aptly puts it, Dissociative Identity Disorder and schizophrenia “are not even remotely the same. Continuing to treat them as such perpetuates gross misunderstandings that isolate people with both of these disorders.”