Showing posts with label Genetic Disorder. Show all posts
Showing posts with label Genetic Disorder. Show all posts

Tuesday, March 27, 2012

ADHD Challenges Those Seeking a Driver’s License

The first time Jillian Serpa tried to learn to drive, the family car wound up straddling a creek next to her home in Ringwood, N.J.

Ms. Serpa, then 16, had gotten flustered trying to sort out a rapid string of directions from her father while preparing to back out of their driveway. “There was a lack of communication,” she said. “I stepped on the gas instead of the brake.”

On her second attempt to learn, Ms. Serpa recalled, she “totally freaked out” at a busy intersection.

It was four years before she tried driving again. She has made great progress, but so far has still fallen short of her goal: Two weeks ago she knocked over a cone while parallel parking and failed the road test for the fourth time.

Learning to drive is hard and scary for many teenagers, and driving is far and away the most dangerous thing teenagers do. But the challenges are significantly greater for young people who, like Ms. Serpa, have attention problems.

A number of cognitive conditions can affect driving, and instructors report a recent increase in the number of teenagers with Asperger syndrome seeking licenses.

But the largest group of challenged teenage drivers and the mostly closely studied, appears to be those with attention deficit hyperactivity disorder (ADHD, ADD).

A 2007 study, by Russell A. Barkley of the Medical University of South Carolina and Daniel J. Cox of the University of Virginia Health System, concluded that young drivers with ADHD are two to four times as likely as those without the condition to have an accident, meaning that they are at a higher risk of wrecking the car than an adult who is legally drunk.

Researchers say that many teenagers with attention or other learning problems can become good drivers, but not easily or quickly, and that some will be better off not driving till they are older or not at all.

The most obvious difficulty they face is inattention, the single leading cause of crashes among all drivers, said Bruce Simons-Morton, senior investigator at the National Institute for Child Health and Human Development in Bethesda, Md.

“When a driver takes his eyes off the road for two seconds or more, he’s doubled the risk of a crash,” he said.

Inexperienced drivers usually are distractible drivers. Dr. Simons-Morton cited a study on a closed course in which teenagers proved much more adept than adults at using cellphones while driving and missed more stop signs.

The situation isn’t helped by how “noisy” cars have become, with cellphones, iPods and Bluetooth devices, said Lissa Robins Kapust, a social worker and coordinator of a driving program at Beth Israel Deaconess Medical Center in Boston. “Driving is so busy on the inside and the outside of the car it’s the most complex thing we do.”

But ADHD involves more than distractibility (?). Its other major trait is impulsiveness, which is often linked to high levels of risk-taking, said Dr. Barkley.

“It’s a bad combination” for young drivers, he said. “They’re more prone to crashes because of inattention, but the reason their crashes are so much worse is because they’re so often speeding.” Many drivers with ADHD overestimate their skills behind the wheel, Dr. Barkley noted.

Thursday, March 15, 2012

Prosopagnosia - Face Blidness

Prosopagnosia is a disorder of face perception where the ability to recognize faces is impaired, while the ability to recognize other objects may be relatively intact.

The term originally referred to a condition following acute brain damage, but a congenital form of the disorder has been proposed, which may be inherited by about 2.5% of the population.

The specific brain area usually associated with prosopagnosia is the fusiform gyrus.

Few successful therapies have so far been developed for affected people, although individuals often learn to use 'piecemeal' or 'feature by feature' recognition strategies.

This may involve secondary clues such as clothing, gait, hair colour, body shape, and voice. Because the face seems to function as an important identifying feature in memory, it can also be difficult for people with this condition to keep track of information about people, and socialize normally with others.

Some also use the term prosophenosia, which refers to the inability to recognize faces following extensive damage of both occipital and temporal lobes.

Children with Prosopagnosia
Developmental prosopagnosia can be a difficult thing for a child to both understand and cope with. Many adults with developmental prosopagnosia report for a long time they had no idea that they had a deficit in face processing, unaware that others could distinguish people solely on facial differences.

Children with prosopagnosia can be hard to find. They may just appear to be very shy or slightly odd due to their inabilities to recognise faces.

Children with prosopagnosia may have a hard time making friends, as they may not recognize their classmates. They often make friends with children with other distinguishing features.

Children with prosopagnosia may also have difficulties following the plots of television shows and movies, as they have trouble recognizing the different characters.

They tend to gravitate towards cartoons, where the characters always wear the same thing and have other distinguishing features.

Prosopagnosiac children may also have a hard time telling family members apart or recognizing people out of context (i.e. the teacher in a grocery store).

Additionally, those children with prosopagnosia can have a difficult time with the public school system, as many school professionals are not well versed in prosopagnosia, if they are aware of the disorder at all.

Resources
Resources to help parents and professionals cope with prosopagnosia in children are also being developed, such as Understanding Facial Recognition Disorders in Children by Nancy L. Mindick

Oliver Sacks, famous neuroscientist, author of many books including The Man Who Mistook His Wife for a Hat; although he knew what prosopagnosia was and had studied it, he did not realise he had it until people became shocked that he confused one of his brothers with the other and then, discussing it with family members, learned that a number of them had similar difficulties with face.

Dame Jane Goodall, British primatologist, ethologist, and anthropologist, best known for her 45-year study of social and family interactions of wild chimpanzees.

Thursday, February 23, 2012

Levels of protein SIRT6 appear to impact lifespan of mice

Researchers in Israel have found that genetically altering male mice to cause them to express more of the protein SIRT6 allowed them to live up to fifteen percent longer.

Haim Cohen and colleagues at Bar-Ilan University in Ramat-Gan, describe in their paper published in Nature, how they veered from following the crowd studying SIRT2 and instead chose to look at SIRT6.

In so doing, they discovered that when the mice under study were caused to express more SIRT6, the older males tended to metabolize sugar at a faster rate than normal, which led, they believe, to protecting them from metabolic disorders and a longer lifespan.

They found that the median lifespan for the transgenic male mice was fourteen and a half percent longer than normal in one line and almost ten percent in another, while there was no statistical difference in the females.

They also measured maximum lifespan and found it grew by nearly sixteen percent in one line of the mice and just over thirteen percent in another. This the group says, shows that mice tend to live longer if they express more SIRT6.

Levels of protein SIRT6 appear to impact lifespan of mice

Saturday, March 27, 2010

UK Boy has world's rarest Genetic Disorder


Every little boy is unique to their parents but six year old Mackenzie Fox-Byrne is also special to the scientific world. He is thought to have the world's rarest genetic disorder because he is the only person on earth known to suffer from it.

Mackenzie, whose condition has given him learning difficulties and left him unable to speak, is the result of a gene mutation doctors have never seen before.

his development appeared to be behind that of her other children, Kamara, 14, and Katie, 12.

At three months old, he was still not lifting his head from his cot, he found it difficult to hold down food and had trouble sleeping.

Doctors initially feared he might have the muscle-wasting disease Muscular Dystrophy, but instead tests results showed a much more bewildering picture.

Mrs Fox-Byrne, 40, of Market Drayton, Shropshire, said: "They knew it was unique and told me excitedly that they had found something rare that no one else has.

"Unfortunately, that was all they could tell me. They couldn't tell me how he is going to progress or whether he might fall ill in the future.

"No one else on earth has ever had this condition."

Mackenzie's test results showed he had a triplication of a small region on the long arm of his X-chromosome.

At the moment the little boy cannot speak, has low muscle tone, is still in nappies and has no sense of danger.

He also has learning difficulties which mean he has the mental age of a two-year-old and goes to a special school in Shrewsbury.

Mrs Fox-Byrne, who lives with her partner Andy, 47, said: "It's quite terrifying to be told he is the only person in the world to have this condition.

"Although we worry about what might happen to him in the future, I just try to put it out of my mind. You could go crazy thinking about it."

Karen Temple, professor of medical genetics at Wessex Clinical Genetics Service confirmed Mackenzie was a totally unique case.

She said: "We have to learn what we can from the little boy as he grows up.

"The problem with Mackenzie isn't that he has got genes missing – as is the case sometimes – it's that he has got extra parts.

"This little boy has had this chromosome problem since he was conceived, we can learn from how he is now and that helps us to predict his future."