Developmental Disorders – Sam Rhine Genetics

FAS pic The prevalence of the Fetal Alcohol Spectrum Disorder (FASD) has been estimated to be:

1/100 newborns, with about 1/500 with the full blown Fetal Alcohol Syndrome (FAS)
4/500 with less severe effects referred to as partial Fetal Alcohol Syndrome (pFAS)

However, a new evaluation of first grade students in Sioux Falls, South Dakota indicates these numbers may have been underestimated.

FASD is on a continuum from very mild effects, due to small amounts of alcohol consumption during pregnancy, to very severe effects (FAS) from heavy maternal alcohol consumption. This new study looked at first graders with both cognitive and dysmorphologic testing and found pFAS to be present in 2.4% to 4.8% of students evaluated = ~1/35!

Read a related SCIENCE DAILY Article

The UK’s Deciphering Developmental Disorders (DDD) is the world’s largest nationwide and genome-wide diagnostic sequencing program which has lead to the discovery of twelve previously unknown genetic syndromes and their causative genes.

An evaluation of 1133 families, the beginning of 12,000 future family tests, found 12 new causative genes for syndromes that had been previously unrecognized. The analysis was done by trio exome analysis – comparing the genome of an affected child with the genomes of their normal parents. All of the newly discovered disorders were caused by new ‘de novo’ mutations that were present in the child but not in the parents – indicating the mutation probably occurred in the formation of an egg or sperm in the parents. This is an example of a condition that is genetic but not inherited!

To read related SCIENCE DAILY article CLICK HERE

To read related article in NATURE, CLICK HERE

New Estimates of Fetal Alcohol Spectrum Disorder Prevalence

Twelve New Genetic causes of Developmental Disabilities

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