Thursday, March 27, 2014

Study supports that Autism originates during pregnancy



For moms who worry that autism is somehow vaccine - related, please read. That theory is false and has been thoroughly and clearly debunked by the scientific community. Andrew Wakefield's "study" was completely false and his reputation destroyed. Jenny McCarthy is simply a irresponsible celebrity, not medical authority. Do not refuse to vaccinate your children, there is no link between vaccines and autism. Two strong evidence points suggest that 1) autism begins prenatally and 2) genetics most likely play a role.

Researchers at the University of California, San Diego School of Medicine and the Allen Institute for Brain Science have published a new study that shows new evidence that autism begins during pregnancy. The authors are: Eric Courchesne, PhD, professor of neurosciences and director of the autism Center of Excellence at UC San Diego, Ed S. Lein, PhD, of the Allen Institute for Brain Science in Seattle, and first author Rich Stoner, PhD, of the UC San Diego Autism Center of Excellence. The peer-reviewed study analyzed post-mortem brains of children with autism, finding that key genetic markers were absent in brain cells in multiple layers. "This defect," Courchesne stated, "indicates that the crucial early developmental step of creating six distinct layers with specific types of brain cells -- something that begins in prenatal life -- had been disrupted."

These results add to the already-considerable evidence that autism starts in the womb; according to Professor Stanley Nelson of UCLA's David Geffen School of Medicine, "The overwhelming set of data is that the problems are existing during [very early] brain development, probably as an embryo or fetus." The prenatal origin of autism Spectrum Disorder (ASD) also supports the prevailing view of ASD expressed by Professor Daniele Fallin of the Johns Hopkins Bloomberg School of Public Health: “If there is environmental risk or interaction with genes, it’s likely to either [occur around the time of conception] or very early in development in utero” and thus risk of ASD cannot be attributed to postnatal vaccines.



As noted in this study, autism has been previously associated with abnormal prenatal proliferation of neurons leading to an excess of neurons in prefrontal cortex. Moreover, children who regressed into autism followed an abnormal trajectory of brain growth consistent with this abnormal prenatal development, which is also consistent with the recent data that demonstrates that gene networks associated with autism tend to be expressed during mid-fetal development in pre-frontal cortex. Other children who developed ASD were shown to have abnormal accumulations of fluids in their brains in a pattern previously shown to begin to develop before birth.

Both genetic and environmental data point to early to mid gestation as the critical period for the development of ASD. Both rare and common genetic variations contribute to ASD risk; and both inherited and spontaneous mutations play a role. Environmental factors identified as drivers of ASD risk include maternal infection, preterm birth, advanced parental age, short inter-pregnancy interval, prenatal exposure to air pollution, phthalates and pesticides, and inadequate intake of appropriate prenatal vitamins around the time of conception.

The authors of a recently-published, long-term follow-up of all of the 1.5 million children born in Denmark between 1980-2004 found that "the difference in the recurrence risk between full- and half-siblings supports the role of genetics in ASDs, while the significant recurrence risk in maternal half-siblings [greater than in paternal half-siblings] may support the role of factors associated with pregnancy and the maternal intrauterine environment in ASDs." [Grønborg TK1, Schendel DE, Parner ET. Recurrence of Autism spectrum disorders in full- and half-siblings and trends over time: a population-based cohort study. JAMA Pediatr. 2013 Oct;167(10):947-53.]

Original Study in the NEJM: http://www.nejm.org/doi/full/10.1056/NEJMoa1307491

Tuesday, March 11, 2014

Pretty Olivia Wells Stone Necklaces




Aren't these necklaces incredibly beautiful yet laid back and fun? They are by Olivia Wells and I happened to come upon them on a flash sale site. I fell in love with these two. However they were sold out. I know I will love these for many years, so if I ever come upon them again on such a good sale, I will be sure to pick them up. Don't they remind you of those intricate estate sale necklaces type - but updated and modern?

Sunday, February 23, 2014

Colorful Children's Dishes - Food Inspiration

The facebook page Fun Kid Food has lots of lovely inspiration photos on how to arrange appealing children's food. The dishes are interesting visually but simple enough that no instructions are needed. It seems that the process of arranging the food is quite obvious - also, it seems one could do a lot of substitutions with produce they have on hand at the moment. Like the page on facebook if you wish to see the updates in your newsfeed. Hope your little ones enjoy!






 














2014 - A Snowy New York City Winter


We had an incredible amount of snowstorms in the city this winter season. The children have been dolled up in snowsuits at least a few times and taken to Central Park to enjoy the snow in its full glory. They never go over five minutes of play before they start complaining of being wet and cold - maybe because they are too small yet to keep their gloves on fully. On the upside, they enjoy admiring the pretty, snowed on city. Here, JV is holding a pair of binoculars, getting ready to survey the neighborhood while explaining to his brother that he needs to wait his turn. Which finally came after a very long wait. 


 











Photo Credits: Delia T.

Thursday, February 20, 2014

Simple Trick for Estimating Children's Weight


It's one of those tricks one learns in Med School, when you are bombarded with all kinds of information and charged with remembering it all. Eeeck. It also is quite useful for a mom who wants to stop wasting those 30 precious extra seconds it requires to google, for the millionth time, the CDC growth charts due to "mom stress" inflicted by her child not eating well. ;)

Photo Credit: Residents - UCIrvineEM

Wednesday, February 19, 2014

Briefly, the Current State of Human Whole Genome Sequencing


















 

The cost of sequencing a complete human genome has dropped in 2013 to an astounding low: $1000. Such technology improvements in DNA-sequencing technology (Illumina is the company behind it) are, for the first time in history, disproving Moore's Law (the computing industry's trend of doubling computer power every two years).

 At the moment, or, as of Feb. 19, 2014, there is a striking computational bottleneck - it costs a lot more to computer analyze the results of a sequencing run than the cost of the sequencing run itself. The sequencing run provides a code, your genome, made up of just 4 letters, A,C,T,G, 3 billion of them. But, without the analysis, the results are just a long string of randomly-arranged A,C,T,G, or, meaningless code. Kudos to the E.McNally scientific group who published a groundbreaking study today, aiming at eventually decreasing the cost of human whole genome sequence analysis to, drumroll... about $1000. #thebest2000dollarsiwilleverspend.