6519641
Description
Mind Map by rania khalil, updated more than 1 year ago
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Created by rania khalil
over 7 years ago
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A Child with Abnormal Facies
- Breaking bad news
- Autonomy
- freedom from
external control
or influence;
independence.
- 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
- Ensure that the physical setting
is comfortable and private
- dont give false hope
- Autonomy
- NEONATAL INTENSIVE CARE UNIT
- Resuscitation
- Ventilation
- Endotracheal Intubation
- Ventilation
- Oxygenation, Observation, Protection from cold, Provision of
nutrition, Administration of medications, Maintaining fluid balance
- Resuscitation
- CHROMOSOMES
- STRUCTURE
- TYPES
- 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
- 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.
- 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
- epicanthal folds
- DEVELOPMENTAL
MILESTONES
- they learn, progress, and
develop more slowly
than most other
children since their
brains develop
differently because of
the extra chromosome
- 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
- Mostly, is not
inherited
- 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
- 90 &
above is
normal
- Reasoning; Problem
solving, Abstract
thinking, Judgment,
Academic learning,
Experiential learning
- disability that covers significant
limitations like intellectual
functioning and adaptive behavior.
- IQ Assessment
- Epilepsy
- Alzheimer-like dementia
- Mild to moderate intellectual Disability
- 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
- 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
- Poor parent-child
relationship
- Sharjah City for Humanitarian Services
- 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
- medical and dental
expenses, and annual
independent check-ups
- The medical costs for a child
with Down syndrome were 12
to 13 times higher than a
child without Down syndrome
- Social
Aspects
- Symptoms
- Edward's: Trisomy 18
- Patau's: Trisomy 13
- DOWN'S
- How?
- 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.
- Deletion: loss
of a segment
of a
chromosome
- Screening
tests
- looks at the risk in this
pregnancy of the baby being
born with a genetic disorder
- ULTRASOUND
- MATERNAL SERUM
SCREENING
- ULTRASOUND
- Genetic Counselling
- evaluating family history and
medical records, ordering genetic
tests, evaluating the results
- evaluating family history and
medical records, ordering genetic
tests, evaluating the results
- looks at the risk in this
pregnancy of the baby being
born with a genetic disorder
- Numerical
- 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
- help identify genetic problems as
the cause of a disorder or disease
- 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
- 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.
- Karyotyping: test to examine
chromosomes in a sample of
cells
- STRUCTURE
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