05-31-2006, 10:40 PM
This is about a prenatal test -
It is therefore important for pediatricians to be able to educate families regarding recurrence risks. A survey conducted at the New England Medical Center found that parents are confused about the causes of autism but would like prenatal testing and diagnosis.30 It is necessary to inform parents of the known causes of autism and that, whereas prenatal diagnosis is possible in the case of defined disorders such as FXS, there is no prenatal test to identify "idiopathic" autism. Given the recurrence rate of 2% to 8% in siblings of affected children and that the initial diagnosis of autism is made between 1 and 4 years of age, it is especially important to offer parents information about their recurrence risks before they conceive another child.219 Physicians must also be attentive to the psychological concerns of the family and be prepared to inform the parents of individuals with autism about available state and federal services.212
For research purposes, exhaustive causative investigations in families who have given informed consent are required to exclude known associated conditions that might cloud the interpretation of the data. It is crucial for pediatricians to try to involve families with multiple affected members in such formal projects, as family studies are key to unraveling the causes of autism. Many families must be screened to untangle the subtle genetic differences from the environmental influences that contribute to its complex causation, and studies can be validated only by the replication of results in multiple different populations.132,134 These studies are required to identify the underlying genetic mutations associated with autistic phenotypes that target potential candidate genes. With an understanding of the many genetic causes of autism, prenatal screening and counseling may one day become available for affected families as more autism-causing conditions become diagnosable.
http:// pediatrics.aappublications.org/cgi/content/full/113/5/e472
It is therefore important for pediatricians to be able to educate families regarding recurrence risks. A survey conducted at the New England Medical Center found that parents are confused about the causes of autism but would like prenatal testing and diagnosis.30 It is necessary to inform parents of the known causes of autism and that, whereas prenatal diagnosis is possible in the case of defined disorders such as FXS, there is no prenatal test to identify "idiopathic" autism. Given the recurrence rate of 2% to 8% in siblings of affected children and that the initial diagnosis of autism is made between 1 and 4 years of age, it is especially important to offer parents information about their recurrence risks before they conceive another child.219 Physicians must also be attentive to the psychological concerns of the family and be prepared to inform the parents of individuals with autism about available state and federal services.212
For research purposes, exhaustive causative investigations in families who have given informed consent are required to exclude known associated conditions that might cloud the interpretation of the data. It is crucial for pediatricians to try to involve families with multiple affected members in such formal projects, as family studies are key to unraveling the causes of autism. Many families must be screened to untangle the subtle genetic differences from the environmental influences that contribute to its complex causation, and studies can be validated only by the replication of results in multiple different populations.132,134 These studies are required to identify the underlying genetic mutations associated with autistic phenotypes that target potential candidate genes. With an understanding of the many genetic causes of autism, prenatal screening and counseling may one day become available for affected families as more autism-causing conditions become diagnosable.
http:// pediatrics.aappublications.org/cgi/content/full/113/5/e472