Showing posts with label Phelan-McDermid Syndrome. Show all posts
Showing posts with label Phelan-McDermid Syndrome. Show all posts

Thursday, December 26, 2013

Childhood Autism: English Arsonists destroy boy's Xmas surprise treat

An arson attack which destroyed a sensory room built as a Christmas present for a severely autistic boy has been condemned as a "disgusting and cowardly crime".

Fiona and Wesley Ratcliff, from Woodhouse Park in Wythenshawe, Manchester, had spent the last two weeks transforming the summer house into a safe play space for their seven -year-old s on Harvey, who suffers from Phelan-McDermid syndrome, (22q13) a rare genetic disorder.

They had planned to show Harvey the sensory room for the first time on Christmas Day, but instead they discovered it had been destroyed in an arson attack.

Wesley Ratcliff, 32, said: "Everyone was devastated. We had family come down from Scotland. They had put in the money towards helping us build it. They had all come down to see his face.

"We are all in shock. The consequence with what could have happened; it being so close to the house - I think we are lucky."

A guinea pig hutch next to the summer house had also been set alight, but the two guinea pigs escaped unharmed.

Mr Ratcliff, who is a support worker with autistic adults, said: "We bought the summer house at the beginning of the month, and the idea was to get it up and ready for Christmas.

"We painted it, put the flooring down, put the lights in, decorated it with pictures and painted it sky blue because Harvey is a Manchester City fan. It was just somewhere where he could go when he was having a hard time. I had put the final touches in on Christmas Eve."

But yesterday morning Mr Ratcliff found that the summer house had been destroyed by a fire.

He said: "The disco lights and a digital radio had been stolen. We had put soft floor mats inside which were completely burnt by the fire. The bean bag chair and a little stool and easel table were all destroyed as well.

"My opinion is that we have not been targeted, but that it was just a random attack. It was probably just some drunk teenagers, a one off. My wife is really upset and she is scared about being alone with the kids in the house."

Detective Inspector Jane Curran said: "This truly is heartbreaking, the family, like every other family across Greater Manchester, were really looking forward to showing their son his Christmas present when they woke on Christmas Day.

"Whoever did this really has no morals whatsoever.

"It is a disgusting and cowardly crime and I really would like anyone who may have seen anything or who has any information about this to contact us.

"Thankfully we think that the weather overnight extinguished the fire otherwise we may have been dealing with a much more serious incident yesterday."

Wednesday, June 12, 2013

Phelan-McDermid Syndrome (PMS): Researchers provide first prospective characterisation

In the first prospective study of its kind, Seaver Autism Center researchers at the Icahn School of Medicine at Mount Sinai provide new evidence of the severity of intellectual, motor, and speech impairments in a subtype of autism called Phelan-McDermid Syndrome (PMS).

The data are published online in the June 11 issue of the journal Molecular Autism.

Mutation or deletion of a gene known as SHANK3 is one of the more common single-gene causes of autism spectrum disorders and is critical to the development of PMS, a severe type of autism.

To date, clinicians have relied on case studies and retrospective reviews of medical records to understand the features of this disorder and how the clinical presentation relates to the extent of the genetic changes in the SHANK3 region.

In the first systematic and comprehensive prospective trial, researchers led by Alex Kolevzon, MD, Clinical Director of the Seaver Autism Center, under the direction of Joseph Buxbaum, PhD, Director of the Seaver Autism Center, enrolled 32 participants with SHANK3 deletions to comprehensively assess their clinical symptoms and examine how the size of the SHANK3 deletion correlated to those symptoms.

"Previous studies have not utilized prospective assessments to understand Phelan-McDermid Syndrome, and the prevalence of autism spectrum disorder has never been examined using gold-standard instruments" said Dr. Kolevzon.

"There is no established standard for assessing this type of autism, and our study provides important guidance in developing such a standard."

Of the 32 patients enrolled, 84 percent met criteria for an autism spectrum disorder. Seventy-seven percent of patients exhibited severe to profound intellectual disability, with 19 percent using some form of verbal communication.

Other common features included low muscle tone, gait disturbance, and seizures. The researchers also found that patients who had larger SHANK3 deletions had more severe disease.

"Our findings provide additional evidence of the significant impairment associated with SHANK3 deficiency," said Dr. Kolevzon.

"Also, knowing how large the deletion of the SHANK3 gene is may have important implications for medical monitoring and individualizing treatment plans. Results also provide much-needed guidance in developing a standardized methodology for evaluating the features of this disorder."

Read more of this article here