A Child with Abnormal Facies

Descrição

Medicine Mapa Mental sobre A Child with Abnormal Facies, criado por rania khalil em 30-09-2016.
rania khalil
Mapa Mental por rania khalil, atualizado more than 1 year ago
rania khalil
Criado por rania khalil aproximadamente 8 anos atrás
25
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Resumo de Recurso

A Child with Abnormal Facies
  1. Breaking bad news
    1. Autonomy
      1. freedom from external control or influence; independence.
      2. Practice what you're going to say
        1. Ensure that the physical setting is comfortable and private
          1. Choose the right time if possible
          2. dont give false hope
          3. NEONATAL INTENSIVE CARE UNIT
            1. Resuscitation
              1. Ventilation
                1. Endotracheal Intubation
                2. Oxygenation, Observation, Protection from cold, Provision of nutrition, Administration of medications, Maintaining fluid balance
                3. CHROMOSOMES
                  1. STRUCTURE
                    1. TYPES
                    2. ABNORMALITIES
                      1. Numerical
                        1. How?
                          1. Euploidy: Normal set, (2n)
                            1. Polyploidy: extra set of the entire genome. (3n, 4n etc)
                              1. caused by dispermy or failure of cytokinesis
                              2. Aneuploidy: the number of chromosomes is not a multiple of the normal haploid number (trisomy, monosomy)
                                1. DOWN'S
                                  1. Symptoms
                                    1. epicanthal folds
                                      1. Brushfield spots
                                        1. vision problems
                                          1. short neck
                                            1. upslanted eyes
                                              1. Congenital heart defects
                                                1. septal defect can cause a build-up of blood in one or more of the heart's chambers, which causes the heart to work harder to pump blood.
                                                2. palmar crease
                                                3. DEVELOPMENTAL MILESTONES
                                                  1. they learn, progress, and develop more slowly than most other children since their brains develop differently because of the extra chromosome
                                                  2. Cause & risks
                                                    1. Mostly, is not inherited
                                                      1. Risk increases with woman’s age, with a rise at 35-40 years of age
                                                      2. COMPLICATIONS
                                                        1. Mild to moderate intellectual Disability
                                                          1. IQ Assessment
                                                            1. Reasoning; Problem solving, Abstract thinking, Judgment, Academic learning, Experiential learning
                                                              1. 90 & above is normal
                                                                1. 70 -90 is borderline impaired or delayed
                                                                  1. <70 is intellectually impaired
                                                                2. disability that covers significant limitations like  intellectual functioning and adaptive behavior.
                                                                3. Epilepsy
                                                                  1. Alzheimer-like dementia
                                                                  2. Dealing with down's syndrome
                                                                    1. Social Aspects
                                                                      1. Sharjah City for Humanitarian Services
                                                                        1. Mission :They are aiming at the inclusion and empowerment of persons with disabilities through education, rehabilitation, and job placement to shape independent, self-reliant individuals in society
                                                                        2. Impact on family
                                                                          1. Poor parent-child relationship
                                                                            1. low self-esteem and self-confidence, passive and ineffective coping strategies
                                                                          2. Financial Aspects
                                                                            1. The medical costs for a child with Down syndrome were 12 to 13 times higher than a child without Down syndrome
                                                                              1. medical and dental expenses, and annual independent check-ups
                                                                                1. equipment
                                                                                  1. programs of training
                                                                                    1. education
                                                                              2. Edward's: Trisomy 18
                                                                                1. Patau's: Trisomy 13
                                                                              3. Structural
                                                                                1. Deletion: loss of a segment of a chromosome
                                                                                  1. Inversion: Reversed order of a segment
                                                                                    1. Duplication: an extra copy of a chromosomal
                                                                                      1. Translocation: Transfer of a segment of a chromosome to another one.
                                                                                        1. Insertions: a part of one chromosome is removed and added to another.
                                                                                        2. Screening tests
                                                                                          1. looks at the risk in this pregnancy of the baby being born with a genetic disorder
                                                                                            1. ULTRASOUND
                                                                                              1. MATERNAL SERUM SCREENING
                                                                                              2. Genetic Counselling
                                                                                                1. evaluating family history and medical records, ordering genetic tests, evaluating the results
                                                                                            2. TESTS
                                                                                              1. Karyotyping: test to examine chromosomes in a sample of cells
                                                                                                1. help identify genetic problems as the cause of a disorder or disease
                                                                                                  1. can be performed on almost any tissue
                                                                                                    1. Count the number of chromosomes, Look for structural changes in chromosomes
                                                                                                    2. FISH Test: test that “maps” the genetic material in a person’s cells
                                                                                                      1. using a sample of the patient's tissue, special colored dyes are attached to specific parts of certain chromosomes in order to visualize and count them under a fluorescent microscope and to detect cancer-promoting abnormalities.
                                                                                                        1. doesn't have to be performed on cells that are actively dividing

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