Abnormal Facies

Group Therapy
1. Disadvantages
  1. Limited Privacy
  2. Personality Clashing
  3. Loss of trust
2. Advantages
  1. Diversity of Opinions
  2. Establishing friendship and Social Support
  3. Group Interaction
Support
1. Special education
2. ِAddress the needs of parents and child
3. Provide parents with information about disabilities
4. Parent to Parent is a program
2 ways to diagnose chromosomal abnormalities in newborns
1. Karyotyping
  1. Test to identify and evaluate the size, shape, and number of chromosomes in a sample of body cells.
  2. How performed
    1. The cells to be tested are acquired, the sample is placed in a dish and is cultured, the division is arrested during metaphase, the sample is then examined under the microscope after being stained. Stained sample is photographed. A computer software is used to arrange them.
  3. When performed
    1. When a woman experiences miscarriages or infertility.
    2. When an infant has congenital abnormalities.
    3. To check a developing baby for chromosomal abnormalities before birth.
2. Physical Examination
  1. Checking for distinctive facial features
  2. Measuring
    1. Head circumference \\ Distance between the eyes \\ Length of the arms and legs \\ Neurological or ophthalmological tests.
  3. X-rays, Computerized tomography (CT) scans, or Magnetic resonance imaging (MRI)
Test to detect chromosomal abnormalities
1. Diagnostic Tests
  1. Amniocentesis
  2. Chorion villus sampling
  3. Percutaneous umbilical blood sampling (PUBS)
  4. Placental biopsy
  5. Cordocentesis
2. Screening Tests
  1. Blood test + Ultrasound (nuchal translucency) = 1st trimester
  2. Blood test = trimester 2
  3. Risks
    1. Losing the pregnancy (miscarriage) \\ Emotional, social, or financial consequences of the test results \\ Tension within the family .
Breaking bad news guidelines
Down Syndrome
1. Complication
  1. Heart defects \\ Leukemia \\ Infectious diseases \\ Dementia \\ Sleep apnea \\ Obesity
2. Physical features
  1. Low muscle tone
  2. Flat facial features
  3. Upward slant to the eyes.
  4. Small skin folds on the inner corner of the eyes.
3. Mode of inheritance
  1. Trisomy 21
  2. Translocation Down syndrome
  3. Mosaic Down syndrome
4. Risk factor
  1. Advancing maternal age. \\ Having had one child with Down syndrome. \\ Being carriers of the genetic translocation for Down syndrome.
5. Psychosocial effects
  1. Repetitive and obsessive-compulsive behaviors
  2. Sleep-related difficulties
  3. Depression
  4. Oppositional, impulsive, and inattentive behaviors
  5. General anxiety.
Dysmorphic feature
1. Difference of body structure, can be related to a congenital disorder , genetic , or birth defect.
Chromosomal abnormalities
1. Number
  1. Eupliod : Normal (2n)
  2. Polypliody : Extra set of the entire genome (3n , 4n)
  3. Aneuploidy – the number of chromosomes is not a multiple of the normal haploid number.
  4. Monosomy – one member of a chrmosome pair is missing (2n-1)
  5. Trisomy – one chrmosome set consists of 3 copies of a chromosome. (2n+1)
2. Structure
  1. Deletion- loss of a segment of a chromosome.
  2. Inversion– Reversed order of a segment.
  3. Dublication– an extra copy of a chromosomal segment.
  4. Translocation -Transfer of a segment of a chromosome to another one.
3. Turner syndrome \\ Down syndrome \\ Edward syndrome \\ Patau syndrome
Genetic counseling
1. Process by which the patients or relatives at risk of an inherited disorder nature of the disorder, the options open to them in management and family planning. This complex process can be separated into diagnostic and supportive aspects.
Neonatal resuscitation
1. the intervention after a baby is born to help it breathe and to help its heart beat
  1. Helping with ABC
    1. Airway
    2. Breathing
    3. Circulation
2. To whom it's done?
  1. Pre-term baby \ Forceps or ventouse delivery \ Vaginal breech birth \ Suspected fetal distress
3. Elements
  1. Drying and covering the newborn baby to conserve heat \ Assessing the need for any intervention \ Opening of the airway \ Aerating the lung \ Rescue breathing \ Chest compression Administration of drugs (rarely) .
Intellectual Disabilities

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Abnormal Facies

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Medienanhänge

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