A Child with Abnormal Facies

A Child with Abnormal Facies

1. Breaking bad news

   • Autonomy
     • freedom from external control or influence; independence.
   • Practice what you're going to say
     • Ensure that the physical setting is comfortable and private
     • Choose the right time if possible
   • dont give false hope

2. NEONATAL INTENSIVE CARE UNIT

   • Resuscitation
     • Ventilation
     • Endotracheal Intubation
   • Oxygenation, Observation, Protection from cold, Provision of nutrition, Administration of medications, Maintaining fluid balance

3. CHROMOSOMES

   • STRUCTURE
     • TYPES
   • ABNORMALITIES
     • Numerical
       • How?
       • Euploidy: Normal set, (2n)
       • Polyploidy: extra set of the entire genome. (3n, 4n etc)
         • caused by dispermy or failure of cytokinesis
       • Aneuploidy: the number of chromosomes is not a multiple of the normal haploid number (trisomy, monosomy)
         • DOWN'S
           • Symptoms
             • epicanthal folds
             • Brushfield spots
             • vision problems
             • short neck
             • upslanted eyes
             • Congenital heart defects
               • 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.
             • palmar crease
           • DEVELOPMENTAL MILESTONES
             • they learn, progress, and develop more slowly than most other children since their brains develop differently because of the extra chromosome
           • Cause & risks
             • Mostly, is not inherited
             • Risk increases with woman’s age, with a rise at 35-40 years of age
           • COMPLICATIONS
             • Mild to moderate intellectual Disability
               • IQ Assessment
                 • Reasoning; Problem solving, Abstract thinking, Judgment, Academic learning, Experiential learning
                   • 90 & above is normal
                   • 70 -90 is borderline impaired or delayed
                   • <70 is intellectually impaired
               • disability that covers significant limitations like  intellectual functioning and adaptive behavior.
             • Epilepsy
             • Alzheimer-like dementia
           • Dealing with down's syndrome
             • Social Aspects
               • Sharjah City for Humanitarian Services
                 • 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
               • Impact on family
                 • Poor parent-child relationship
                 • low self-esteem and self-confidence, passive and ineffective coping strategies
             • Financial Aspects
               • The medical costs for a child with Down syndrome were 12 to 13 times higher than a child without Down syndrome
                 • medical and dental expenses, and annual independent check-ups
                 • equipment
                 • programs of training
                 • education
         • Edward's: Trisomy 18
         • Patau's: Trisomy 13
     • Structural
       • Deletion: loss of a segment of a chromosome
       • Inversion: Reversed order of a segment
       • Duplication: an extra copy of a chromosomal
       • Translocation: Transfer of a segment of a chromosome to another one.
       • Insertions: a part of one chromosome is removed and added to another.
     • Screening tests
       • looks at the risk in this pregnancy of the baby being born with a genetic disorder
         • ULTRASOUND
         • MATERNAL SERUM SCREENING
       • Genetic Counselling
         • evaluating family history and medical records, ordering genetic tests, evaluating the results
   • TESTS
     • Karyotyping: test to examine chromosomes in a sample of cells
       • help identify genetic problems as the cause of a disorder or disease
       • can be performed on almost any tissue
       • Count the number of chromosomes, Look for structural changes in chromosomes
     • FISH Test: test that “maps” the genetic material in a person’s cells
       • 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.
       • doesn't have to be performed on cells that are actively dividing

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