Navigation Links
Mount Sinai researchers provide 1st prospective characterization of a genetic subtype of autism
Date:6/11/2013

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 diseas
'/>"/>

Contact: Press Office
newsmedia@mssm.edu
212-241-9200
The Mount Sinai Hospital / Mount Sinai School of Medicine
Source:Eurekalert

Page: 1 2

Related medicine news :

1. David H. Koch donates $10 million to Mount Sinais Jaffe Food Allergy Institute
2. Great recession reflux amounts to more hunger among seniors
3. Mount Sinai presents treatment trends, vaccine research, prognosis data at ASCO
4. Mount Sinai researchers develop a multi-target approach to treating tumors
5. Mount Sinai is first in New York state to perform new Alzheimers imaging test in clinical setting
6. Limited amounts of alcohol during pregnancy do not harm children
7. Mount Sinai researcher finds timing of ADHD medication affect academic progress
8. Americans Already Consuming the Right Amount of Salt
9. Mount Sinai finds common factors in autism spectrum disorders, schizophrenia, and bipolar disorder
10. Be Present Welcomes Wanderlust Festival to Copper Mountain, Colorado
11. Is acetazolamide effective and safe for preventing acute mountain sickness?
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:7/13/2014)... 13, 2014 The North American water storage ... 2013 to $5,450 million by 2018, at a CAGR of ... is expanding at a rapid pace in North America. The ... laws on water & wastewater storage and collection, and the ... market is expanding at a healthy rate in Canada, and ...
(Date:7/13/2014)... (PRWEB) July 13, 2014 The ... Copper, Molybdenum, Iron), Form (Chelated & Non Chelated), ... Geography - Global Trends and Forecast to 2018” ... with an analysis and forecasting of the global ... identifies the driving and restraining factors for the ...
(Date:7/13/2014)... (PRWEB) July 13, 2014 Fuel additives ... as gasoline, diesel, jet fuel, kerosene, and so on, ... also responsible for reducing the corrosion effects caused by ... when added to any fuel, provide economies of scale ... these escalate the overall cost of the fuel products. ...
(Date:7/13/2014)... 2014 MarketsandMarkets recently conducted a ... 3D Scanning; 3D rendering; Layout and Animation; Image ... - 2018)”, which analyzes and studies the major ... Western Europe, Eastern Europe, Middle East and Africa, ... the competitive landscape of the 3D imaging market, ...
(Date:7/13/2014)... Serena Gordon HealthDay ... A new type of sensor for people with diabetes ... using saliva instead of blood, researchers report. Scientists at ... tested it using artificial saliva. It uses light, metal and ... sugar. "Everybody knows that diabetics have to prick their ...
Breaking Medicine News(10 mins):Health News:North American Water Storage Systems Market is Expected to Reach $5,450 million by 2018 - New Report by MicroMarket Monitor 2Health News:North American Water Storage Systems Market is Expected to Reach $5,450 million by 2018 - New Report by MicroMarket Monitor 3Health News:Micronutrient Market Worth $6,474.6 Million by 2018 - A Report by MarketsandMarkets 2Health News:Micronutrient Market Worth $6,474.6 Million by 2018 - A Report by MarketsandMarkets 3Health News:Micronutrient Market Worth $6,474.6 Million by 2018 - A Report by MarketsandMarkets 4Health News:North America Fuel Additives Market is Expected to Reach $8,100 Million by 2017 - New Report by MicroMarket Monitor 2Health News:North America Fuel Additives Market is Expected to Reach $8,100 Million by 2017 - New Report by MicroMarket Monitor 3Health News:North America Fuel Additives Market is Expected to Reach $8,100 Million by 2017 - New Report by MicroMarket Monitor 4Health News:3D Imaging Market Worth $9.82 Billion By 2018 - Report by MarketsandMarkets 2Health News:3D Imaging Market Worth $9.82 Billion By 2018 - Report by MarketsandMarkets 3Health News:3D Imaging Market Worth $9.82 Billion By 2018 - Report by MarketsandMarkets 4Health News:Saliva Test Might Someday Replace Needle Prick for Diabetics 2Health News:Saliva Test Might Someday Replace Needle Prick for Diabetics 3
... joint researchers continue to seek better ways to diagnose ... following total joint arthroplasty. Their latest research shows ... tract infections, can also have a role in rapid ... previous work conducted by Javad Parvizi, MD, FRCS, director ...
... HealthDay Reporter , MONDAY, Feb. 6 (HealthDay News) -- ... like those found on the tongue -- that can "taste" ... foods and beverages. Nutrition experts have warned that Americans take ... bolster their concerns. In lab studies of pancreas cells ...
... , MONDAY, Feb. 6 (HealthDay News) -- Treatment with ... a slightly increased risk of death, a new analysis ... be taken into account by doctors and patients, according ... investigators analyzed the findings of 10 clinical trials that ...
... A recent discovery by Van Andel Research Institute (VARI) ... drug therapies for glioblastoma the most common and ... study, published in January in the Proceedings of ... characterized by cell signaling activation and gene amplification for ...
... for 30 years, has finally provided convincing evidence that ... symptoms of painful menstrual periods reports scientists from the ... published in Europes leading reproductive medicine journal Human ... have suggested that the combined oral contraceptive pill could ...
... Infectious disease has joined poaching and habitat loss as ... apes as they have become restricted to ever-smaller populations. ... our closest living relatives from ecological extinction are largely ... major threats and find innovative solutions. In response ...
Cached Medicine News:Health News:Rothman Institute at Jefferson research suggests use of LE strips to diagnose PJI 2Health News:Pancreas May 'Taste' Fructose, Hinting at Links to Diabetes 2Health News:Pancreas May 'Taste' Fructose, Hinting at Links to Diabetes 3Health News:Certain Cancer Drugs May Have Fatal Side Effects: Analysis 2Health News:Discovery predicts patient sensitivity to important drug target in deadly brain cancer 2Health News:Combined oral contraceptive pill helps painful periods 2Health News:Combined oral contraceptive pill helps painful periods 3Health News:Combined oral contraceptive pill helps painful periods 4Health News:Researchers examine consequences of non-intervention for infectious disease in African great apes 2Health News:Researchers examine consequences of non-intervention for infectious disease in African great apes 3
(Date:7/10/2014)... Integrated Silicon Solution, Inc. (Nasdaq: ... IC solutions, today announced that it will host its ... 7:00 a.m. Pacific Time (10:00 a.m. Eastern Time) to ... third quarter ended June 30, 2014. To ... 6:50 a.m. Pacific time on July 24, 2014.  The ...
(Date:7/10/2014)... --  Ventana Medical Systems, Inc.  (Ventana), a member of ... an agreement with Merck KGaA, Darmstadt, Germany ... the United States and ... division on the development and commercialization of a companion ... diagnostic assays. In alignment with Merck KGaA,s strategic approach ...
(Date:1/15/2014)... 15, 2014 Sono-Tek Corporation (OTC BB: SOTK) today announced ... 2013, compared to sales of $2,202,000 for the prior year ... quarter has also shown growth over the preceding quarter,s sales, ... this fiscal year. Markets that experienced sales increases over the ...
Breaking Medicine Technology:Ventana Medical Systems, Inc. and Merck KGaA, Darmstadt, Germany to develop companion diagnostic test for cancer treatment 2Ventana Medical Systems, Inc. and Merck KGaA, Darmstadt, Germany to develop companion diagnostic test for cancer treatment 3Sono-Tek Announces Third Quarter Results 2Sono-Tek Announces Third Quarter Results 3Sono-Tek Announces Third Quarter Results 4
... YORK, May 11, 2011 Reportlinker.com ... report is available in its catalogue: ... Trends 2011 – Generics Market Overview: ... generic uptake despite tougher market conditions ...
... TOKYO, May 11, 2011 Daiichi Sankyo announced that ... (PLX4032/RG7204) for the treatment of metastatic melanoma to the ... Medicines Agency (EMA).  Additionally, a pre-marketing application for approval ... the U.S.; the test also will be registered in ...
Cached Medicine Technology:Reportlinker Adds Pharmaceutical Key Trends 2011 - Generics Market Overview: Patent cliff set to drive global generic uptake despite tougher market conditions 2Reportlinker Adds Pharmaceutical Key Trends 2011 - Generics Market Overview: Patent cliff set to drive global generic uptake despite tougher market conditions 3Reportlinker Adds Pharmaceutical Key Trends 2011 - Generics Market Overview: Patent cliff set to drive global generic uptake despite tougher market conditions 4Reportlinker Adds Pharmaceutical Key Trends 2011 - Generics Market Overview: Patent cliff set to drive global generic uptake despite tougher market conditions 5Vemurafenib New Drug Application Submitted to FDA for Melanoma 2Vemurafenib New Drug Application Submitted to FDA for Melanoma 3Vemurafenib New Drug Application Submitted to FDA for Melanoma 4
... ARUP Laboratories is a national reference ... laboratory research and development. ARUP offers an ... unique medical tests in clinical and anatomic ... ARUP Laboratories' clients include more than half ...
... a national reference laboratory and a worldwide ... ARUP offers an extensive test menu of ... clinical and anatomic pathology. Owned by the ... more than half of the nation's university ...
... national reference laboratory and a worldwide leader ... offers an extensive test menu of highly ... and anatomic pathology. Owned by the University ... than half of the nation's university teaching ...
... Laboratories is a national reference laboratory and ... and development. ARUP offers an extensive test ... tests in clinical and anatomic pathology. Owned ... clients include more than half of the ...
Medicine Products: