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"Is my child different?" PBL Week 3, are - Coggle Diagram
"Is my child different?"
PBL Week 3
Chromosomal Abnormalities
First is
Abnormalities
They are
Wolf-Hirschhorn
Is caused by
Deletion of Chromosome 4
It causes
Delayed growth ,intellectual disability, and seizures.
Cat eye syndrome
Is caused by
Trisomy 22
Angelman syndrome
It causes
Intellectual disability, frequent smiling and laughing, and exciting personalities.
Is caused by
Chromosome 15 deletion.
Causation
Genetically
Chromosomal Non-disjunction
Enviromentally
Teratogens
Diagnosis
Karyotyping
of the following
Chorionic villus sampling
Amniocentesis
Blood Sample
FISH
Treatment
Genetic Counselling
can lead to
IVF
Treating vital symptoms
such as
Heart defects
Education
especially about
Tetragens
Research
allowing us to
Find causes & treatments for Tetragens/abnormalities.
5 Strateges
Dealing with Down Syndrome
Reward
promising something in
order to persuade a child
to perform a certain behavior
Choice
give your child a choice
This will help them feel
empowered
it will minimize negative behavior
Routine
giving structure to small daily activities
getting dressed
bathroom activities
meal times
Sticking with the routine
Redirection
spending some time with them
playing
reading a book
coloring
Consistency
Children naturally test boundaries and make unconscious notes of how their behavior is dealt with and how that made them feel
challenges faced when raising them
Delay in speech
Self care skills
like feeding
Dressing
Using the toiler
Affects ability to learn
Mild to moderate intellectual disability
Down Syndrome
Physical Features
Small ears and mouth
Short fifth finger
Almond-shaped eyes that slant up
tiny white spots on the iris
Poor muscle tone or loose joints
Shorter in height
Other Health Problems
Vision Problems
include
Cataracts
Rapid and involuntary eye movements
Heart Defects
most common
Atrioventricular Septal Defect
Atrial Septal Defect or Ventricular Septal Defect
Blood disorders
Leukemia
Polycythemia
Thrombocytopenia
affect the brain
Mental retardation and increased risk of Alzheimer
Epilepsy
Hormonal Disorder
risk for type 1 diabetes
not sufficient thyroid hormone
Intellectual Disability and Qatar centers for children with special needs
Intellectual disability
Means
Having mental problems that affects the intellectual functiong and adaptive functioning
signs
The child to walk lated than other normal children
Hard to remember things
have trouble solving problems
Trouble speeking
Caused by
Exposure to toxins
Head Truama
Chromosomal Abnormalities
Infections or problems during pregnancy
Qatar center for children with special needs
Vision is
raising awareness about the causes of disability
Responsibilities are
Enhancing the capabilities of our disabled boys and girls
Includes
Shafallah
Aamal Center for Special Needs
Genetic counseling
is
The professional interaction between a healthcare provider with a specialized knowledge of genetics and an individual/ family
Types
Prospective
Retrospective
Benefits
Reduce family anxiety
Prevention of disease
Provide psychological support
Discuss options available to deal with the disorder
Role of genetic counselor
Risk assessment
information gathering
communication
Diagnosis
long term contact and support
investigations
decision making
relation between maternal age and genetic disorders
increase in maternal age
is accosiated with lower levels of
Cohesion
proteins that assure the stability of chromosomes and prevent premature seperation during meiosis
securin
karyotyping
is
Chromosomal studies that determine the number and structure of the chromosomes, also detect common abnormalities.
used to
To confirm a diagnosis of suspected chromosomal anomaly / genetic disorder.
genetic inheritance of trisomy 21
cause can be
Nondisjunction
depends on
maternal age
translocations
depends on
karyotyping of the parents
Suppporting families of Down syndrome
Breaking the news
Is
The most crucial and difficult step
Includes
Being realistic
Explain the challenges and possible solutions
Supportive
Ensure a staff member is available to provide support
Respectful
Correct terminology
Educating
In
Understanding
Strengths
Learning visually
Weakness
Motor skills
Accepting
Adapting
Rehabilitation
Such as
Physical therapy
Occupational therapy
Speech therapy
are