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A 43-year-old member asked:

what is the difference between angelman syndrome and down syndrome?

1 doctor answer3 doctors weighed in
Dr. Johanna Fricke
Developmental and Behavioral Pediatrics 50 years experience
Neurodevelopmental : Disorders like AS & DS that cause Intellectual Disability differ in etiology, signs & symptoms & Neurobehavioral profiles including motor, language, cognitive & social/ adaptive skills. The genetic accident that causes DS gives a fetus 3 copies of Chromosome 21; a fetus with AS may lack a maternal UBE3A gene, have 2 copies of the gene from dad, or only dad's gene is active at Chr.15 q11.2-q13.

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A member asked:

How can I tell if my baby has down syndrome?

3 doctor answers2 doctors weighed in
Dr. Michael Amster
Specializes in Pediatrics
Physical and genetic: Down's syndrome is a genetic disorder having one too many of the 21 chromosome. Most are detected on the triple screen, followed by genetic testing on amniocentesis. However, there are physical signs to look for: a single palmar crease, very weak musculature, distinct facial features, and heart defects. There are other smaller signs. There will be developmental delay, and other health issues later.
A 39-year-old member asked:

Can I take a test to see if my fetus will have down syndrome?

2 doctor answers5 doctors weighed in
Dr. Craig Keathley
Obstetrics and Gynecology 24 years experience
Yes: The diagnostic test for Down syndrome is a fetal chromosome analysis or karyotype with fetal cells obtained by either chorionic villus sampling or amniocentesis. Both tests have complication risks. There are less invasive tests using ultrasound and blood tests that can suggest an elevated risk, but they only assess risks and are not diagnostic.
A 30-year-old member asked:

If I am 23yo, why would my doctor tell me I have a high risk of having a Down syndrome baby?

3 doctor answers7 doctors weighed in
Dr. Golder Wilson
Specializes in Clinical Genetics
Affected relative: Younger (under 16) and "older" (arbitrarily over age 35) have higher risks for a child with down syndrome--about 1% increasing to ~2% for women over 40. Mid-twenties to early thirties is a risk of 1 in 2000 or less. If you had a prior child with down syndrome, or someone in the family had a child with translocation down syndrome, your risks could be higher.
A 41-year-old member asked:

What is the difference between Angelman syndrome and autism?

1 doctor answer5 doctors weighed in
Dr. Johanna Fricke
Developmental and Behavioral Pediatrics 50 years experience
Angelman Syndrome = : intellectual disability,puppet-like, jerky movements, hand-flapping, laughter outbursts, sociability, & severe language deficits from lack of maternal genes, 2 sets of paternal genes or only active paternal genes on Chromosome 15q11.2-q13. A few kids with AS lack social communication & reciprocity + their stereotypical movements, warranting additional diagnosis of Autistic Spectrum Disorder.
A 48-year-old member asked:

What is the difference between Angelman syndrome and Williams syndrome?

1 doctor answer3 doctors weighed in
Dr. Alan Ali
Dr. Alan Alianswered
Psychiatry 32 years experience
Williams/Angelman: Williams show distinct facial features, Cardiovascular abnormalities, Hypercalcemia & Hyperactivity. Angelman show severe intellectual impairments, Seizures, Ataxia, Speech impairment. Both are rare genetic diseases involving Chromosomal abnormalities (Chromosome 15 in Angelman, 7 in Williams).

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Last updated Feb 14, 2017
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