Phelan McDermid Syndrome News and Research

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New molecule is one step closer to becoming a treatment for Phelan-McDermid syndrome

A molecule created at the University of Auckland is one step closer to becoming a treatment for an extremely rare and severely debilitating neurological disorder called Phelan-McDermid syndrome.

2 Feb 2024

Pioneering study could transform the treatment landscape for babies with infantile spasms

Infantile spasm (IS) is a severe epileptic syndrome of infancy and accounts for 50% of all epilepsy cases that occur in babies during the first year of life.

20 May 2022

New NPO formed to accelerate development of therapies for Shankopathies

Parents of children affected by Phelan-McDermid syndrome (PMS) announce the formation of CureSHANK, a nonprofit organization on a mission to accelerate drug development in PMS and other diseases related to the SHANK genes for which there are currently no FDA approved treatments.

23 Oct 2019

Scientists reverse social traits associated with autism in mouse model

Research has been ongoing in the field of genetic mutations and changes and brain and other neural disorders including Autism Spectrum Disorders (ASD) and a new study in mice models of autism has shown a possible link between mutations or deletions of the SHANK3 gene and a rare disorder called Phelan-McDermid syndrome and ASD.

29 Jul 2019

Study provides clues to neural circuits underlying social deficits linked to ASD

Although psychiatric disorders can be linked to particular genes, the brain regions and mechanisms underlying particular disorders are not well-understood.

26 Jul 2019

Sleep problems in autism may be linked to gene mutation

Up to 80 percent of children with autism spectrum disorder experience sleep problems.

29 Apr 2019

Zebrafish offers clue to alleviate gastrointestinal distress related to autism

University of Miami researchers have discovered a clue in the humble zebrafish's digestive tract that, one day, could help people on the autism spectrum alleviate one of the most common yet least studied symptoms of their disorder: gastrointestinal distress.

7 Feb 2019

Mount Sinai study characterizes genetically modified rat model of autism and intellectual disability

Researchers at The Seaver Autism Center for Research and Treatment at Mount Sinai have generated and characterized a genetically modified rat model of autism and intellectual disability, according to a study conducted at the Icahn School of Medicine at Mount Sinai and published January 31 in the journal eLife.

31 Jan 2017

New mouse model reveals underlying brain changes linked to autism's social, learning problems

A new mouse model of a genetically-linked type of autism reveals more about the role of genes in the disorder and the underlying brain changes associated with autism's social and learning problems.

11 May 2016

Study: Growth hormone can improve social impairment in patients with Phelan-McDermid syndrome

A growth hormone can significantly improve the social impairment associated with autism spectrum disorder (ASD) in patients with a related genetic syndrome, according to a pilot study conducted at the Icahn School of Medicine at Mount Sinai and published yesterday on Pub Med, a public database of biomedical topics maintained by the National Institutes of Health (study originally published in the December 12 issue of the journal Molecular Autism).

20 Feb 2015

New nationwide effort seeks to find novel approaches to treat ASD, intellectual disability

Some of the genetic diseases that can cause autism spectrum disorder (ASD) and intellectual disability (ID) are so rare that even physicians who specialize in treating them can't be certain they have seen every possible symptom.

19 Dec 2014

Global scientists to discuss latest findings on diagnosis, causes and treatments of ASD

The International Society for Autism Research (INSAR), a scientific and professional organization devoted to advancing knowledge about autism spectrum disorders, convened more than 1700 researchers, delegates, autism specialists and students from 40 countries for the 13th Annual International Meeting for Autism Research (IMFAR), the world's largest scientific gathering on autism research, from May 15 through May 17 at the Atlanta Marriott Marquis in Atlanta, GA.

15 May 2014

Mount Sinai scientists receive NIH grant to study clinical benefit of IGF-1 in children with PMS

Scientists at the Seaver Autism Center at the Icahn School of Medicine at Mount Sinai have received a grant from the National Institutes of Health to study Insulin-Like Growth Factor-1, a promising treatment for a subtype of autism called Phelan McDermid Syndrome.

27 Aug 2013

Scientists receive NIH grant to study commercially-available drug for treatment of PMS

Scientists at the Seaver Autism Center at the Icahn School of Medicine at Mount Sinai have received a grant from the National Institutes of Health (NIH) to study Insulin-Like Growth Factor-1 (IGF-1), a promising treatment for a subtype of autism called Phelan McDermid Syndrome (PMS).

26 Aug 2013

Understanding Phelan-McDermid Syndrome

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.

12 Jun 2013

Mount Sinai experts to educate families on identifying signs, symptoms of ASD

The latest report from the US Centers for Disease Control and Prevention estimates that one out of 50 school-aged children has an autism spectrum disorder.

30 Mar 2013

Clinical trial to evaluate IGF-1 in children with SHANK3 deficiency

In an important test of one of the first drugs to target core symptoms of autism, researchers at Mount Sinai School of Medicine are undertaking a pilot clinical trial to evaluate insulin-like growth factor (IGF-1) in children who have SHANK3 deficiency (also known as 22q13 Deletion Syndrome or Phelan-McDermid Syndrome), a known cause of autism spectrum disorder (ASD).

25 Apr 2012

Autism Speaks announces 47 new ASD research grants

Autism Speaks, the world's largest autism science and advocacy organization, today announced the awarding of 47 new research grants totaling $13,242,279 in funding over the next three years.

22 Dec 2011

Scientists find new tools to help understand neurodevelopmental disorders

Research released today shows that scientists are finding new tools to help understand neurodevelopmental disorders like autism and fragile X syndrome. These studies show in new detail how the brain's connections, chemicals, and genes interact to affect behavior.

15 Nov 2011

IGF1 drug improves nerve cell communication in PMS mouse model

Researchers from Mount Sinai School of Medicine have identified a drug that improves communication between nerve cells in a mouse model of Phelan-McDermid Syndrome (PMS).

21 May 2010