1. CHARACTERISTIC SYMPTOMS
1.1. The most characteristic symptoms in newborns with DS are:
1.2. 1. Flat facial profile.
1.3. 2.Inclined palpebral fissures.
1.4. 3.Ears anomalous.
1.5. 4.Hypotonia.
1.6. 5.Reflection of Moro deficient.
1.7. 6.Fifth finger median phalange dysplasia.
1.8. 7.Transverse palmar fold.
1.9. 8.Excessive skin on the back of the neck.
1.10. 9.Hyperflexibility of the joints and pelvic dysplasia.
1.11. Other common are: small head,short neck, protruding tongue, unusual-shaped eyes, brushfield spots on the eye,relatively short fingers, gap between the first and second toes.
2. RISK FACTORS
2.1. The older there is a probability of incorrect chromosome division risk.
2.1.1. Probability at age 35: 1 in 400
2.1.2. Probability at age 45: 1 en 35
2.2. Maternal health before and during pregnancy.
2.3. Women with gestational diabetes twice as likely to have offspring with chromosome abnormalities.
2.4. Short intervals between pregnancies.
3. DIAGNOSIS AND TEST
3.1. Principal method:
3.1.1. Genetically is through a karyotype.
3.1.2. Requires 10 to 14 days to get results.
3.1.3. Use of FISH.
3.2. Types of DS:
3.2.1. Trisomy 21 by no disjunction.
3.2.1.1. 95% cases.
3.2.2. The partial trisomy 21.
3.2.2.1. 1%-5% cases.
3.2.3. Mosaicism.
3.2.3.1. 1%-4%
3.3. Chapman y Hesketh:
3.3.1. Difficulty in expressive language.
3.3.2. Speech Intelligibility.
3.3.3. Short term memory.
3.3.4. Behavior.
4. TREATMENT
4.1. After birth they are referred to:
4.1.1. Physical Therapy.
4.1.2. Speech Therapy.
4.1.2.1. Help to:
4.1.2.1.1. Communicate through speech and sign language.
4.2. Medical treatment improves the quality of life and health.
4.3. The corrective surgery to:
4.3.1. heart defects.
4.3.2. Gastrointestinal irregularities.
4.3.3. Detection of visual impairment.
4.3.4. Ear infections.
4.3.5. Hearing loss.
4.3.6. Hypothyroidism and obesity.
5. PREDOMINANCE
5.1. Newborn.
5.1.1. DS cases increase relative to the rate of mothers aged 35 and over.
5.1.2. Vary by race and ethnicity in the United States.
5.1.2.1. Less probability in blacks.
5.1.2.2. More probability in Hispanics.
5.2. Differences according to the study:
5.3. Reduced the prevalence of births with DS:
5.3.1. Use of prenatal diagnosis.
5.3.2. Interruption of pregnancy.
6. EVOLUTION OF THE DISEASE
6.1. Noetzel:
6.1.1. The first symptoms of dementia:
6.1.1.1. Behavioral.
6.1.1.2. Such as apathy.
6.1.1.3. Lack of attention.
6.1.1.4. Decreased social interaction.
6.1.1.5. Spatial disorientation.
6.2. Deb y Braganza:
6.2.1. Compared the diagnosis of dementia with:
6.2.1.1. International Classification of Diseases.
6.2.1.2. Clinical Qualification, Dementia Scale for Down Syndrome.
6.2.1.3. Dementia Questionnaire for People with Mental Retardation.
6.2.1.4. Mini Mental Status Examination.
6.3. Nieuwenhuis-Mark:
6.3.1. Recommendations:
6.3.1.1. Annual detection of dementia for all people with Down syndrome aged 35 or older.
6.3.1.2. Classification systems modified to capture early and atypical symptoms of Down syndrome dementia.
6.3.1.3. The Evaluations of people with Down syndrome should also include a medical history and a physical exam.
7. PATHOPHYSYOLOGY
7.1. Volumes reduced brain and brachycephaly with disproportionately smaller volumes in the frontal and temporal areas.
7.2. Morphometric studies:
7.2.1. Show fewer neurons.
7.2.2. Decreased neural densities and distribution abnormal neuronal.
7.2.3. Synaptic density.
7.2.4. Synaptic length.
7.3. Cognitive Profile:
7.3.1. Deficiency in morphosyntax.
7.3.2. Short-term verbal memory and long-term explicit memory.
7.3.3. Associative learning.
7.3.4. Implicit are typically preserved.
7.4. Pennington and his colleagues
7.4.1. They tested the prefrontal and hypocampal functions.
7.4.1.1. Children with DS performed worse in each hippocampus measurement, but not in any of the prefrontal measurements.
7.4.2. As a result, there is evidence of a dissociation between two neuropsychological functions.
8. HEALTH IN DEMENTIA
8.1. Hypertension:
8.1.1. Have a lower than normal heart rate and blood pressure may have a risk of cerebrovascular disease.
8.2. Overweight:
8.2.1. With DS can have a 45-79% men and 56% and 96% women.
8.3. Diabetes:
8.3.1. May promote inflammation, in the general population type I diabetes may occur at age 22 and type II at a lower rate.
8.4. Cerebrovascular disease:
8.4.1. Cognition, inflammation and hypoperfusion may also be lower risk in adults with DS.
8.5. Thyroid dysfunction:
8.5.1. It has a cofactor of risk of vascular dementia this has a percentage of 35-40% where it will be able to be seen in adults with an incidence that increases with age.
8.6. Seizures:
8.6.1. It begins with the myoclonic epilepsy gene on chromosome 21, the rate increases with age at the Down syndrome from 7% to 46% to 84% of people with DS and dementia.