A Couple in Their Twenties With An Autistic Child
I have long felt that genetics plays the biggest role in my son's autism. My husband's youngest brother has autism. Our son has autism. About five years after my son was diagnosed, my cousin's son was diagnosed and a year after that, his second child - a daughter - was diagnosed with autism. My money is on genetics.
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FROM READING THE RESEARCH ABSTRACT FROM THE INTERNATIONAL MEETING FOR AUTISM RESEARCH IN SEATTLE MAY 3- MAY 5TH 2007 I HAVE NOTICED THAT A SEGMENT OF RISK FOR AUTISM IS FAMILY HISTORY OF PSYCHIATRIC PROBLEMS OR ADHD OR OBSESSIVE COMPULSIVE DISORDER AND THEY REPORT BIPOLAR DISORDER SO I AM JUST REPORTING WHAT I READ AND HERE IS AN OLD STUDY THAT HAS TO DO WITH FAMILY GENETICS THE MOTHER HAS A DISOMY (UPD) OF CHROMOSOME 1. SHE PROBABLY GOT THAT MUTATION FROM AN OLDER FATHER SOMEWHERE DOWN THE LINE.
Hum Genet. 2005 Jul;117(2-3):200-6. Epub 2005 May 11. Links
A case of autism and uniparental disomy of chromosome 1.Wassink TH, Losh M, Frantz RS, Vieland VJ, Goedken R, Piven J, Sheffield VC.
Department of Psychiatry, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA. thomas-wassink@uiowa.edu
We report a male child with autism found to have maternal uniparental disomy (UPD) of chromosome 1. The child met diagnostic criteria for the three symptom domains of autism: language impairment, deficient social communication and excessively rigid and repetitive behaviours. He also had a variety of features often associated with autism, including mild mental retardation, small head circumference, hyperactivity, poor fine motor skills, slightly dysmorphic facial features and a heightened interest in olfactory stimulation. His brother, who did not have chromosome 1 UPD, was also autistic. The mother, but not the father, had a history of psychiatric illness and a number of personality and social traits similar to the core features of autism. The discovery of the cytogenetic abnormality was made during the course of a genome-wide linkage screen, wherein genotypes at 6 out of 17 chromosome 1 markers were non-Mendelian and all transmissions were consistent with UPD. Further genotyping (a total of 54 markers) revealed alternating regions of heterodisomy and isodisomy. Whereas chromosome 1 UPD has not been shown to cause disease by effects on imprinting, numerous reports exist of the abnormality unmasking recessive disease-causing mutations. In agreement with this, one of the regions of isodisomy overlaps an emerging chromosome 1 region of interest in autism located at 150-160 Mb.
Labels: familial autism, familial schizophrenia
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