Doctor insights on:
Down Syndrome Without Mental Retardation
Mental retardation is an old fashioned term now replaced with the term “Intellectual Disability”. It is defined as a measured intelligence below the normal range (less than 70) combined with inability to perform activities of daily living. For this designation a person must, in addition to having low measured ability, be significantly limited in at least two of the following areas: self-care, communication, home living, social/interpersonal skills, self-direction, use of community resources, functional academic skills, work, leisure, health, and safety. The four degrees of intellectual disability are mild, (IQ between 55-70) moderate, (between 35 and 50), severe and profound. In the severe and profound ranges individuals have language, communication and motor impairments and cannot be tested. Profound disability, is usually associated with a neurological condition. In addition to the categories of mild, moderate, severe, and profound, categories are sometimes used to designate those intellectually disabled persons who can benefit from some degree of academic training. Those designated "educable” can handle academic work at a third-to sixth-grade level, and usually have IQs that fall between 50 and 75. The designation “trainable” refers to those who can progress as far as second grade work and can live in a sheltered string without one on one constant care. It is important to know that a measured IQ is not as important as the access to and ability to respond to emotional, ...Read more
Prior to my birth, the doctors said I had spina bifida down syndrome, they said I would be retarded, what does this mean?
If you don't have either of these things it suggests that:
1) Doctors aren't always right
2) Ultrasounds weren't nearly as good in those days ...Read more
Early Intervention: Programs for infants with DS accelerate attainment of motor, communication, self-help/adaptive & cognitive skills through OT, PT, cognitive, behavioral & Speech/Language Therapy from 0-3, then Early Childhood Special Education beginning at age 3 + individual therapies, if possible. Ask teachers & therapists what skills your child has mastered, what he's ready to do next & how to motivate him. ...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
My grandaughter has lost volume in the front of her brain. She has Down syndrome and west syndrome. How will this affect her physical and mental deve?
Misunderstanding?: A question like this is too important, and takes more knowledge of her individuality, for us to be able to answer. Down syndrome brains are shaped slightly differently from the rest of us and almost all of them have less volume in the front, which tends to be squared. Might it be that she has always been like this? ...Read more
Some do some don't: Most older kids and adults will be aware of their learning and performance difficulties when they have milder forms of intellectual impairment. The more profound the impairment, the less likely they are aware of the ramifications. ...Read more
They are both "genetic" conditions but they are different in the spectrum of issues they present-.
People with fragile x may have subtle cognitive impairments all depending on how affected the fmr1 gene is.
People with downs have an extra chromosome and kids have delayed cognition as well as physical growth and frequently heart problems. They both may exhibit autistic traits, more so fagile x. ...Read more
Extra 21 chromosome: The majority of Down syndrome develops when the fertilized egg gets an extra number 21 chromosome from the mother. When that cell divides and forms an embryo, every one of the cells in the baby's body have that extra 21 chromosome. There are rare cases where a baby inherits an extra part of the 21 chromosome from one of it's parents. The extra genes on the 21 chromosome cause the down syndrome. ...Read more
For an assessment:
Of the child's developmental needs & toilet-training readiness, if < 3 yrs. Old, call Pam Barton,
Franklin County Help Me Grow Coordinator at (614) 227-9860. If 3-5 yrs. Old, call Lynn Brannon, Director of Early Childhood Special Education at (614) 542-4106.
At the same time, call (614) 355-8080 for an evaluation at the Down Syndrome Clinic, Nationwide Children's Hospital, (614) 355-8080. ...Read more
Every cell affected: Down syndrome is caused by having an extra copy of chromosome 21. Typically, this is caused by having three full copies of chromosome 21, also known as trisomy 21. Every cell in the body has an abnormal number of chromosomes, so it's easy to imagine that multiple organ systems would be affected. A valuable resource for Down syndrome health supervision is available from the aap. Www. Aap. Org. ...Read more
Blood test: The confirmation of this diagnosis is best done with a blood test with chromosome analysis. This is the best way to confirm or exclude the diagnosis. It also allows for sub-classification into the several forms. There is classical, mosaic, and translocation forms of ds. ...Read more
Downs Syndrome: Downs syndrome affects the nervous system like intelectual disability. It can affect heart with congenital heart disease.Thyroid may be affected like congenital hypothyroidism, increased incidense of hirschsprung disease, duodenal atresia, gastro esophagial reflux disease. I fertility in men and women have increase incidence of misscarriage, prematurity. Risk of epilepsy, eye and ear diorders&hearing loss. ...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 more
Accounts for 1% DS: Mosaicism is encountered in ds patients & I have followed one in the past. By definition, some tissues are composed of cells with normal information & other tissues have the abnormal, but the mix could vary greatly in the percentage of either. Functional outcome depends on that blend & whether the abnormally derived tissues compose critical structures like brain, blood, reproductive organs, etc. ...Read more
DEPENDS ON SEVERITY-: Poor muscle tone; flat face ; nasal bridge; upward slanted eyes w/epicanthic folds; low set ears; open mouth w/protruding tongue; short neck w/excessive skin on nape; short, broad hands; incurved 5th finger; transverse palmar crease; wide gap betn 1st ; 2nd toe; joint hyper flexibility; intellectual/ developmental delay w/mental retardation; congenital heart ; GI malformation, short stature etc. ...Read more
ACOG charts show the: Risk of having a fetus with a Trisomy 21, Down Syndrome, at prenatal diagnosis vs. The risk of having a live-born infant with DS because ~ 25% are lost. If there is no family history or prior infant with DS, at age 42 at delivery, the risk is 1/63; risk at 16 weeks' gestation is 1/50 - 1/55. Risk of any chromosomal disorder at term is 1/42. If 43 at term, DS risk is 1/49; of any trisomy, 1/33. ...Read more
Neither: 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. ...Read more
Several possible: The features of Down syndrome seem to be dependent on the addition of one extra segment of a 21 chromosome. You can get there several ways. The traditional ds (~95%) has 3 copies of a 21 chromosome. About 4% have the specific extra 21 piece stuck on a regular chromosome. About 1% have a mosaic of some normal and some 21 trisomy in variable amounts. ...Read more
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