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Frequently Asked Questions

The right reflexes

What warning signs should alert me to seek consultation on an emergency basis?

Those suffering from Down syndrome are as likely as the general population to have certain medical emergencies and the signs are the same, with some slight differences:

  • They complain little and don’t describe their pain very much. It is therefore important to question family and friends carefully and to undergo a thorough medical examination.

  • Pain can sometimes be expressed through behavioural problems; before seeking a psychiatric cause, a medical examination should be done first.

  • Some, when they are hurting, will object to medical examination. It may be wise to do the examination under sedation in a hospital.

What illnesses require emergency consultation?

Some illnesses specific to those with Down syndrome require emergency consultation:

  • In the first year of life, the appearance of West syndrome (epilepsy manifested by flexion or extension of the trunk, neck or fingers and also a loss of eye contact, etc.)

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    From 2 to 3 years, any abnormal fever or fatigue which may suggest the possibility of acute leukaemia.

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    At all ages, any manifestation which may suggest a compression of the cervical rachis: stiff neck, cervical pain, sudden swallowing distress, etc. 

How should I prepare for the medical consultation?

On the first visit to the physician, you must bring all medical documents so he may re-create the patient’s medical history and list which medical examinations have or have not been done. The documents that may be necessary include:

  • Your child’s health record (even if the person is already adult)

  • Medical reports

  • Complementary examination results (for x-rays, it is better to bring the x-ray images themselves)

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    Karyotype results

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    Recent prescriptions and, if possible, a letter from the primary physician

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    Educational and psychological reports, which can be useful for the doctor to have an overview of the patient

If the physician has already been consulted, bring all the documents dating since the last consultation.

How do I assemble and maintain a medical file?

The simplest method is for the parents to progressively collect, in a binder or folder for example, all important documents concerning their child. The Jérôme LejeuneInstitute has created the Book of Life in which parents can keep updates of all important information on their child; this will be useful after they are gone: daily habits, important family moments, friendships to maintain, etc. You can get one from the Jérôme Lejeune Institute (Paris 15e), or from one of the distributing associations.

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