A child with Down syndrome

Normal chromosomes
1. DNA and histone proteins are packaged into structures called chromosomes
  1. 23 pairs = 46 chromosomes (2n)
Chromosomal Abnormalities
1. Numerical
2. Structural
  1. Deletion
    1. Duplication
      1. Inversion
        Translocation
Karyotyping
1. Test to see and identify the chromosomes
  1. Arranged according to length , Banding and centromere location
  2. Other tests
    1. FISH
    2. Chromosomal microarray
2. Down syndrome karyotype
Breaking bad news
1. These news negatively effect the patients health
2. Right methods of delivery
  1. Don’t argue
    1. Don’t ever try to lie
      1. Prepare emotionally
a condition in which a person has an extra chromosome (21)
Complications
1. Neurocognitive
  1. intellectual disability
  2. Hypotonia
  3. Growth
    1. Microcephaly
    2. Short stature
    3. Increased weight in adolscence
2. Hands and feet
  1. Brachydactyly
  2. Clinodactyly
  3. Single palmar crease
  4. Sandal gap
3. Ears
  1. Eyes
    1. brushfield spots
    2. GI
      1. TEF
      2. Pyloric stenosis
      3. Imperforate anus
      4. duodeno arterias
  2. Hearing loss
Risk factors
1. Advanced Maternal Age
2. Carrying Translocation Gene
3. Previous Child with Down Syndrome
management
1. Develop a care team that include
  1. Medical specialists
  2. Speech therapists
  3. physical therapists
  4. Behavioral therapists
Effects of having a child with a disability
1. Financial effects
2. Psychological effects
3. Social effects

Resource summary

	Created by Mohammad Alshammari over 2 years ago