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Down Syndrome In African Americans
Old world term: Before the chromosome defect was found in '60's, the the facial structure of down syndrome kids/adults, reminded folks of the features of mongolian race. Original scientific publications used that terminology. It was well into the '70's before the descriptions began to change ; the public began to use the term down syndrome exclusively. ...Read more
Before/after birth ?: There are a variety of screening or confirmatory tests that can be done during pregnancy. After birth, many physical features are suggestive of the diagnosis, but the physician involved would order a chromosome test to confirm or exclude the issue.Over the years,some had signs so mild many would miss the diagnosis.Others looked so different I didn't believe it. ...Read more
None of the above: Down syndrome happens when an extra 21 chromosome is present in all the cells of the body. It happens before conception when the donor egg fails to shed one of its 21 chromosomes in the formation of the egg; the male 21 joins the female pair & creates an embryo with 3 number 21's. It has nothing to do with traits or mutations in the gene code. ...Read moreSee 1 more doctor answer
If Mom is 36 at term: risk of having a fetus with DS at 16 weeks' gestation is 1:200; risk of having a full-term baby with DS is 1:275. If mom is 37 at term, risk at 16 weeks is 1:150; at term, 1:225, because some pregnancies are lost. Comprehensive 1st trimester screening & integrated 1st & 2nd trimester screening calculate risk by specific hormone & protein levels in mom's blood + fetal ultrasound + maternal age. ...Read more
Variable: A thorough assessment of anyone's risks for pregnancy includes age, pre-pregnancy health ; medications, and an assessment of the genetic input from both parents. A 43 yo has ~1/30 risk of a trisomy 21 down syndrome birth, added to a general 4% risk with any pregnancy for an unexpected event (cleft, premi, illness). A consultation with a genetic counselor could define your specific risks. ...Read more
Chromosome test: Down syndrome is a pattern of malformation ; disordered development related to extra chromosome material carried by the patient. It's most common form involves an extra 21 chromosome, (trisomy 21) in every cell in the body.Less than 10% are mosaics that have a percentage of t21 and some normal.Others have cells with extra 21 material stuck on another chromosome.It is confirmed by a chromosome test. ...Read more
Trisomy 21: Down syndrome is the classic presentation clinically of the congenital malformation syndrome also known as Trisomy 21. Classic features may include simian creases, epicanthal folds, upslanting palpebral fissures, flat nasal bridge, hypertelorism, low set ears, endocardial cushion defects of the heart, atlanto-axial joint instability, blood dyscrasia, mental retardation, etc... ...Read more
Institutionalized: A common approach to ds patients in the 40's was to reccomend institutionalization.Up to 1/3 had a potentially lethal heart defects that could not be fully assessed or fixed at the time & many other issues that seemed futile. Families were encourages to house them in specialized centers where they would be given basic care for what was expected to be a short life of 2-30 yrs. ...Read more
DS Phenotype: flattened face, upward-slanting eyes, skin folds at inner corners of eyes, transverse palmar crease, & more. Many have congenital anomalies of the heart, intestine, skeletal system & other organs, along with hearing loss, vision problems & certain blood & neurological disorders. Intellectual Disability is usually mild-moderate. Guidelines for medical & developmental care are well-established. ...Read more
Early Intervention : Improves development, especially in fine-motor, social & self-help skills. Early childhood special ed at 3, with iep's including long-term speech & language, occupational, physical & behavioral therapy. Visual organizers, schedules & written/pictorial instructions work well because of strengths in visual motor skills & weakness in verbal short-term memory. Balance inclusion & special ed classes. ...Read more
About 70% of people : with DS have mild -moderate Intellectual Disability (ID) by standardized tests of abstract thinking, problem-solving, planning, academic learning, etc. & of adaptive ability in cognitive, social & practical areas. Mild ID = IQ 50-70; moderate ID = IQ 35-49. Some have IQ's in the Borderline Range of normal, 70-79; others, severe ID = IQ 20-34 or profound ID = IQ l<20. See www.ndss.org for more. ...Read more
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