One in 68 Children has Autism

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QSAC CEO Pledges $1 Per Staff Pound Lost

January 8, 2010 8:12 pm Published by

QSAC CEO, Gary A. Maffei is challenging his staff to get fit by loosing weight and pledges $1 for every pound they loose. The funds will benefit the autism community of New York City and Long Island served by Mr. Maffei’s organization.
The challenge concurs with QSAC’s preparation of its annual 5K run/walk scheduled for April 17 in Astoria Park, Astoria, NY. The “biggest loser” will be announced at the 5K event after all participants have been weighed.  The winner receives a cash prize.
“In this tough economy, we need to be very creative to raise the necessary funds to continue our vital work. While deciding on my new year resolution to improve my general health, it occurred to me to put the two together and the challenge idea was born,” said Maffei. “I invite others to join me in challenging the QSAC staff and make a donation for every pound lost,” continued Maffei.
To join Maffei in challenging the staff or for more information on the 5k, contact Daniele Favre-Panayotatos, Director of Development, tel. 212-244-5560 x2016 or danielefp@qsac.com.
QSAC, one of the largest agencies dedicated specifically to autism and an award-winning organization, provides comprehensive services and programs to individuals with autism spectrum disorders (ASD) and their families in New York City and Long Island.  Founded in 1978, QSAC today has 21 facilities in Manhattan, The Bronx, Queens, and Nassau County. Over 2,000 people benefit yearly from its programs, including about 894 individuals who receive direct services. Many of QSAC’s participants represent challenging cases referred to QSAC by the Boards of Education and New York State Office of Mental Retardation and Developmental Disabilities. All of QSAC services are geared towards providing people with autism with the opportunity to develop the skills necessary to lead a more independent, productive and fulfilled life. Among its many recognitions for contributions to individuals with autism and their families QSAC has received the prestigious Mental Hygiene Services Award for Excellence from New York City.

Epigenetics in Autism: An Agenda for the Study of SAM-e supplements

January 4, 2010 1:32 pm Published by

The past few years have seen advances in our understanding of genetic and epigenetic basis of autism spectrum disorder. Epigenetic regulation refers to the study of heritable changes in gene expression that do not involve changes in the DNA sequence (van Vlietv, et al. 2007). These are changes that, for instance, can regulate which genes can be turned “on” and which are turned “off.” According to Sweatt (2009), epigenetics can explain the biologic puzzle in a person’s body of how different cells can have the exact same DNA but different gene expression. In other words, epigenetics can help explain how a muscle cell and a fat cell can have the same DNA, but function completely different.

A number of neuropsychiatric disorders and phenotypes have been associated to epigenetic variations such as Rett syndrome (caused by mutations in the transcriptional repressor MECP2), Fragile X syndrome (FXS – Mutations in the FMR1), Angelman syndrome (loss of function of a gene called UBE3A) and Prader-Willi syndrome (loss of genes in a specific region of chromosome 15), depression, schizophrenia, and addiction (Tsankova, et al. 2007). Epigenetic may help to understand how identical twins with the exact same DNA can have one member with autism or schizophrenia and the other not. Theoretically, the abnormal gene is silenced in the normal twin but activated in the twin with autism or schizophrenia. (Stahl, 2008, Nestler, 2009, Abdolmaleky, et al. 2008, 2004).

Methylation of DNA not only serves to mediate repression of gene expression in imprinted domains, but also provides a mechanism through which environmental factors can have long-lasting effects on the genome. Methylation is an epigenetic event that affects cell function by altering gene expression. During Methylation, methyl groups are transferred from the cofactor, S-adenosyl-L-methionine, to the fifth-carbon of cytosine in a Cytosine-phosphate-Guanine dinucleotide. This reaction is catalyzed by one of the DNA methyltransferase enzymes. DNA Methylation is an epigenetic event that affects cell function by altering gene expression. (Schanen, 2006).

Several studies have demonstrated some abnormalities in the metabolic functioning of children with autism with defects or significantly lower baseline plasma concentrations of methionine, S-adenosylmethionine (SAMe), homocysteine, cystathionine, cysteine, and total glutathione and significantly higher concentrations of S-adenosylhomocysteine (SAH), adenosine, and oxidized glutathione (James, 2004; Levitt, 2005). This metabolic profile is consistent with impaired capacity for Methylation (significantly lower ratio of SAMe to SAH) and increased oxidative stress, which refers to the presence of any of a number of reactive oxygen species (ROS) which the cell is unable to counterbalance. The result is damage to one or more biomolecules including DNA, RNA, proteins and lipids (Ming X, et al. 2008).

Autism is a complex neurodevelopmental disorder whose cause is unknown and which is diagnosed solely on behavioral criteria (Lord, et al. 2000). The incidence of autism has been increasing and is now thought to be present in ~1 in 110 children in the United States (CDC, 2009). There is a hypothesis that autism may be caused by a lack of methyl donors that impairs the process of Methylation during critical points in the early development process. However, there are too many things that can cause a shortage of methyl donors in the body, the two leading are toxins and poor nutrition and defective adulterated food. S-adenosyl-L-methionine could be a fast and effective means of countering methyl donor shortages (Gerber, 2009).

S-Adenosylmethionine (SAMe) is a compound found in all living cells that is involved in essential methyl group transfers. S-adenosyl-L-methionine (SAMe) is the most important methyl donor in the brain and is essential for polyamine synthesis. Methyl group deficiency in the brain has been implicated in depression. It is the principal methyl donor in the one-carbon cycle, with SAMe levels depending on levels of the vitamins, folate and B12. SAMe is involved in the Methylation of neurotransmitters (norepinephrine, serotonin, and dopamine), nucleic acids, proteins, hormones, and phospholipids (Mischoulon & Nierenberg, 2004; Mischoulon & Fava, 2002; Spillmann & Fava, 1996).

There are evidence-based studies that show SAM-e as being superior to placebo and equivalent to the Tricyclic antidepressants [e.g. Imipramine / Tofranil] and Citalopram [Celexa] and Escitalopram (Lexapro) (SSRI antidepressants) in efficacy as monotherapy for patients with mood disorders (Fava, 2007, 2004; Spillmann & Fava,1996; Benelli, Filaferro, Bertolini & Genedani, 1999).

Research studies suggested that some children with autism spectrum disorder have abnormalities in the brain system that makes serotonin, which plays an important role in early brain development. Children with obsessive compulsive disorder (OCD) and mood dysregulation disorders may also have serotonin abnormalities and have repetitive or inflexible behaviors (Archives of General Psychiatry, 2009).

Over recent decades, the use of complementary and alternative medicine (CAM) such as S-adenosyl-methionine (SAMe), Omega-3 fatty acids, Folic acid, Vitamin B12 and St. John’s Wort (all over-the-counter supplements) has increased among patients with psychiatric disorders and in the general population.

S-adenosyl-methionine (SAM-e) therefore is a natural medication that appears to be relatively safe and shows promise as an antidepressant. The epigenetic hypothesis and the impressive literature extending back three decades suggest the antidepressant efficacy of S-adenosyl-methionine (SAM-e). Perhaps some researchers may want to conduct investigations of the role of S-adenosyl-methionine (SAM-e) in autism spectrum disorders.

ABOUT US

QSAC is a New York City and Long Island based nonprofit that supports children and adults with autism, together with their families, in achieving greater independence, realizing their future potential, and contributing to their communities in a meaningful way by offering person-centered services.

QSAC pursues this mission through direct services that provide a supportive and individualized setting for children and adults with autism to improve their communication, socialization, academic, and functional skills.