Lifes Little Surprises: Moasic Down Syndrome- still learning
Lifes Little Surprises: Moasic Down Syndrome- still learning | mild form of down syndrome

6 Unbelievable Facts About Mild Form Of Down Syndrome | Mild Form Of Down Syndrome

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“The Memory Keeper’s Daughter,” Lifetime premiere April 12, 9 p.m.

The premise: In 1964, Nora Henry (Gretchen Mol) goes into activity in the average of a snowstorm and her husband, David, a physician, charge bear his own child. Dr. David Henry (Dermot Mulroney) delivers congenial twins, a boy and a girl, and the babe has Mongoloid features. Nora is befuddled from anesthesia and is not acquainted of what is accident as David, who endured watching his own sister die of bearing defects, decides to accelerate the Down adolescent (in 1964 it was still alleged Mongolism) abroad with his nurse, Caroline (Emily Watson), to additional his wife the affliction of adopting a mentally disabled child. David tells his wife that her babe died, and Caroline raises the baby, Phoebe, as her own daughter. The adolescent is alone agilely retarded, has no affection defects or added aloft medical problems and, at age 6, can dress herself, address the alphabet and calculation to 50. Caroline fights to get her into school, which was about not provided for accouchement with Down affection at that time.

The medical questions: What is Down affection and are accouchement with the action anon identifiable at birth? Is the action accessible with twins? Do these bearing defects tend to run in families? Was amniocentesis, or added screening methods that can anxiously ascertain Down syndrome, frequently accessible in 1964? What are the best accepted medical and acoustic manifestations of Down syndrome? Are there cases as balmy as Phoebe’s?

The reality: Down affection is a abiogenetic action that after-effects from the attendance of an added chromosome 21, so that there are three rather than two of these chromosomes in every cell. Genetically this is accepted as trisomy 21. Affection malformations action in about half; Phoebe is in the accumulation that lacks them. The affection has appropriate concrete appearance including epicanthic folds (extra bark on the aing ancillary of the eyelid), a collapsed nose, up-slanted palpebral fissures (the eyes camber up), a low aerial in the back, baby ears, a bulging tongue, brachycephaly (extra advanced head), nuchal folds (skin folds at the aback of the neck), a bulge beyond the approach of the hand, and a ambit of the fifth feel against the fourth. Those with Down affection ache from brainy amentia and poor beef tone, abnormally back they are young. An accomplished eyewitness can about analyze Down affection at bearing based on acquainted some of the aloft appearance — in Phoebe’s case, David Henry appears to apprehension her slanted eyes and channelled hands, as able-bodied as her added advanced head.

Down affection is absolutely accessible in twins, but if identical, both would about be affected, and if fraternal, as is the case with Phoebe, alone one would usually be affected. Down affection doesn’t run in families, admitting in a baby allotment of cases, actual from one chromosome 21 gets ashore assimilate addition chromosome, and the action can again be inherited. But the bearing birthmark that acquired the aboriginal afterlife of David Henry’s sister, “hole in her heart,” is not accompanying to Down syndrome.

Amniocentesis, which is one of the accepted tests to ascertain abiogenetic abnormalities in utero, was not frequently acclimated until the 1970s, so it is not hasty that Phoebe wasn’t diagnosed until birth.

“Mental amentia is consistently present in a Down affection child, admitting there is abundant airheadedness in cerebral abilities and balmy cases like Phoebe’s absolutely occur,” says Dr. Charles J. Epstein, a pediatrics assistant at UC San Francisco. “I accept apparent and accepted bodies with Down affection who cannot allocution at all and ones who can accord a motivational lecture, address a book, or comedy the piano.” David, by abandoning his child, doesn’t get to see the adorable activity adolescent developed she develops into.

Since the 1960s, bigger medical care, amusing accepting and bigger educational opportunities accept helped bodies with Down affection ability their potential. Unfortunately, adults with Down affection accept a aerial accident of developing aboriginal Alzheimer’s disease, and by the time they ability their 60s, aing to 50% appearance affirmation of dementia.

Dr. Marc Siegel is an internist and an accessory assistant of anesthetic at New York University’s Academy of Medicine. He is additionally the columnist of “False Alarm: The Truth About the Epidemic of Fear.” In the Unreal World, he explains the medical facts abaft the media fiction. He can be accomplished at [email protected]

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