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phsychiatrist

A Downs Syndrome diagnosis is confirmed with a genetic test, which looks for the extra chromosome (Downs chromosome) that is present.

Autistic diagnostic tests such as the CARS, CHAT, ADOS, as well as the Bayleys Scale and Monte Griffiths assesment can be carried out by a psychiatrist (because they rely on observation and parental imput in some parts) but I would recommend seeing a developmental paediatrician because they primarily deal with childrens developmental issues, plus they can along with occupational therapists look for other indicators of autism plus look at whether your child has another developmental problem other than Downs syndrome or autism.

They may also test your child's blood for things like lead levels (to rule out lead poisoning) haemogobin levels, and look at if your child may have Fragile X syndrome, or urine testing for metabolic problems or do an EEG to look for indications your child may have had seizures or something else that may have led to regression in your child's development, plus they may get several different tests like hearing tests to rule out deafness or something else that it could be so I would personally recommend a developmental paediatrician because they may take a more wholistic approach and are experts in the field. I hope this has helped you know what to look for. Good luck.

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12y ago
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15y ago

Down syndrome is most commonly diagnosed by a geneticist. They will take a sample of DNA and view it on a micro-array or other similar methods. Ultimately they look for a third copy of chromosome 21. Every human has 2 copies of all (non sex) chromosomes and having a third or trisomy of chromosome 21 is confirmation of Down syndrome.

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13y ago

Down's syndrome is a genetic defect. It can be detected when a child is still in the womb with a test or after the baby is born. Either the gynecologist or the pediatrician would be the doctors who would test and discover this.

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13y ago

You are born with it, and it is a birth defect. Down Syndrome is caused by the addition of one chromosome, in the 21st chromosome.

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13y ago

Amniocentesis, given during the second trimester of pregnancy, is used to detect/diagnose chromosomal disorders including Down's Syndrome.

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14y ago

Neurologist

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11y ago

a karyotype

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Q: How do you get diagnosed with Down syndrome?
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