ANIMATED CHALKBOARD PRESENTATION

Disorders

By Douaa Soltany

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Charge Syndrome

What is Charge Syndrom

01

Charge Syndrom is a disorder that causes physical and health porblems to multiple systems in the body. They tend to have issues with their 5 senses, sight, smell, hearing, and touch as welll as physical deformations. Its caused by the CHD7 gene mutation. Usually, deafblindess is associated by Charge Syndrom.

What is Charge Syndrom

• skeletal abnormalities
• cleft lip or cleft palate
• heart defects
• genital or uninary abnormalities
• Cognitive abnomarlities​.

• No sense of smell
• difficulty swallowing
• blocked nasal passages
• facial weakness or paralysis
• middle and innder ear malformations, floppy ears, small , or absent earlobes
• short stature
• Low muscle

What are the symptoms?

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Most cases of CHARGE are caused by a mutation, or change, in the gene CHD7. Thismutation usually happens for the first time in the person with CHARGE – it is usually notinherited from either parent. Not all people with CHARGE have a change in the CHD7 gene –other genes for CHARGE may be discovered in the future. CHARGE is NOT caused by anyknown exposures during pregnancy nor is it related to sex, race, nationality, religion, or socio-economic status.

What causes ChARGE syndrome

Charge requires a certain level of exams and ptocedures to be diagnosed *Genetics, opthamology, cardio, audiology, vision exams*IMAGING of kidneys, brain, inner ears, MRI* Genetic tests and dna, ex CHD7 testonce the information is collected, a speciaist uses that data to determine if the child has CHARGE

+ info

How is CHARGE diagnosed?

ChARge Syndrom

• C- Coloboma
• H- Heart Defects
• A- Atresia Choanae
• R- Growth Retardation
• G- Gential abnormalities
• E- Ear and deaf abnormalities

What does CHARGE syndrome stand for?

• Colomba is an area or part of an eye that is missing. This is mosly located in the iris of a child's eye. usually may result in poor vision, light sensitivty, uncontrolable eye movements, and blindness.

• There are 6 types of colombas
• Retinal coloboma: parts of the retina are missing. The retina is the lining behind the eye that senses light and sends nerve signals to the brain
• Eyelid coloboma: part of the upper or lower eyelid is missing or deformed
• Lens coloboma: a piece of the lense missing behind the iris
• Optic nerve Coloboma: This is when thr optic nerve is hollow and cause reduced vision
• Uveal Coloboma: This is when the uvea is missing. Its the middle layer of the eye, including the iris and pupil

Whats Coloboma

• There are not many treatments as this is a gentic deformity. But the common treatments include:
• Cosmetic to fix the appearence of the iris
• Colored contacts as nonsurgical cosmetic treatment.
• Corrective lenses to aid sight
• Vision aids such as magnifiers or screen readers to help read and see.

What some treatments for Colobomas?

• Heart defects are very frequent symptoms when children are being diagnosed. About 75-80% of children with CHARGE have congential heart defects.

• Some examples of heart defects include
• Tetralogy of Fallot- a birth defect that affects blood flow through the heart. about 33% of children with charge has this defect
• Ventricular septal defect- a hole in the wall that separates the two ventricles of the heart
• Atrioventrical canal defects- a whole seperating heart chambers and valves
• Aortic arch anomilies- abnormalities of the heart arches.
• Children can have heart abnormalities like murmmurs, outflow abnormalities. etc.
• Heart defects usually resely in constant medications and or surgery. They can also have more than one surgery throughout their life.

Heart defects

• Chonanal Atresia is a congenital disorder where nasal passagewat are blocked by tissue, bone, or both bevause of failed development during pregnancy.

• Some symptoms of choanal atresia are:
• Respitory discomfort usually relieved through crying
• Noisy breathing
• Feeding difficulties
• Inability to pass cathater ino nasopharynx
• Nasal drainage
• There are not many cures or treatment for Chonanal atresia but some incude surgery to open the nasal passageways, medicines, breathing tubes, sinus procedures, etc.

Atresia Chonae

• Growth Retardation, also known as growth restriction is when the fetus doesnt develop at a normal rate. This is usually occuring intrauterine during the pregnancy. IUGR can happen if the fetus does not get enough nourishment through the placenta or blood flow

• Some risks children with IUGR include
• Low oxygen levels
• Low blood sugar
• Unable to regulate body temp
• low health at birth score
• problems feeding
• neurological issues

• There are not many cures or treatments for the baby as this usually happens in the uterus. Mothers can help level and control IUGR through avoiding drugs, having aa nutritional diet, enough sleeo, etc.

Growth Retardation

• Genital abnormalities are pretty common in childrenwith charge syndrome.
• Males children usually suffer from small penis, undescended testes, or sometimes they dont have an opening at the end of the penis.
• Female childre with charge tent to hve small labias, delayed puberty, and tendency of fertility issues as they grow older.
• Some treatments for various abnormalioties include
• Delayed puberty - Hormonal pills to increase levels of testostorone or estrogen
• Undecented testicles- Surical procedure to drop down
• Micro penis- Testosterone injections, topicals, surgery to stretch etc.

Genital abnormalitlies

• Last but not least one of the most common symptoms that is associated with charge is Ear/ Deafness abnormalities.
• Most children have external ear deformities that include a short and wide ear with little to no earlobes.
• The helix (outer fold) can be reduced in size and miss a chunk of it.
• The Concha (center of the ear) is usually in a triangular shape and is often floppy or stick out due to the weakness of the cartilege
• Both ears on the child vary, they both do not look the same.
• There are also abnormalties associated with the middle ear such as malformed bones and incompleate cochlea, which leads to deafness,

Ear and Deafness abnormalitlies

• There are not many treatments as this is a gentic deformity. But the common treatments include:
• Otoplasty to fix the appearence of the outer
• During the first weeks of life, providers can implement earmolds to help a child's ear reshape gradually
• Cochlear implants to help a child have improved hearing to help communicate

What some treatments for Ear abnormalities?

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Communication with Charge Syndrome

Children with CHARGE syndrome often have behaviour challenges because they find it difficult to communicate effectively and self-regulate.Possible behaviour signs can include:repetitive behaviour – for example, biting, pacing or talkingsensation-seeking – for example, seeking bright colours or strongly flavoured fooddifficulty with self-regulation, especially when children are stressed or overwhelmeddifficulty shifting attention and moving on to new thingsdifficulty with focus and concentration.

Behaviour signs ...

• The best approach for kids with Charge syndrome, is the TOTAL communication approach. This consists of speech, body language, written text, sign lanugage , etc. Charge syndrom causes a variety of issues communicaion wise, so total communication allows a child to learn multiple ways to converse and express themsleves

• Establishing a good relationship with them so that you can learn to recognise their processes and adapt to them.
• Organising their world by providing a safe physical and social environment.
• Establish routines and predictable ways of doing things so that they feel safe.
• Creating interesting situations that will stimulate them.
• Providing enough one-to-one time.
• Allowing them to take the initiative and bring their own to the conversation.

How can we build communication skills?

Here are some educational strategies to help teach students with CHARGE:* Working with organization such as skills, schedules, etc*Negotiating with child to make sure they feel as though they are in charge, provide options*Create interations with peeers, encourage turn taking*Motivate the kids to become interested in materials*take breaks and hear what they have to say* Have child complete as much of the task they possibly could and reward them for it.

CHARGE in classrooms - communication

Any questions?

Got an idea?

Let the communication flow!

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• Generate experiences with your content.
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• Make sure your audience remembers the message.

Why diagnose?

Let the communication flow!

Its important to communicate with your doctor about diagnoses because this creates an opportunity to help your child get the best opportunities to get treatments. Diagnoses provides explanations as to why your child has certain issues and helps us come up with the best medications and treatments for the disorder

Got an idea?

Let the communication flow!

With Genially templates, you can include visual resources to wow your audience. You can also highlight a particular sentence or piece of information so that it sticks in your audience’s minds, or even embed external content to surprise them: Whatever you like!Do you need more reasons to create dynamic content? No problem! 90% of the information we assimilate is received through sight and, what’s more, we retain 42% more information when the content moves.

• Generate experiences with your content.
• It’s got the Wow effect. Very Wow.
• Make sure your audience remembers the message.

Got an idea?

Let the communication flow!

With Genially templates, you can include visual resources to wow your audience. You can also highlight a particular sentence or piece of information so that it sticks in your audience’s minds, or even embed external content to surprise them: Whatever you like!Do you need more reasons to create dynamic content? No problem! 90% of the information we assimilate is received through sight and, what’s more, we retain 42% more information when the content moves.

• Generate experiences with your content.
• It’s got the Wow effect. Very Wow.
• Make sure your audience remembers the message.

Got an idea?

Let the communication flow!

With Genially templates, you can include visual resources to wow your audience. You can also highlight a particular sentence or piece of information so that it sticks in your audience’s minds, or even embed external content to surprise them: Whatever you like!Do you need more reasons to create dynamic content? No problem! 90% of the information we assimilate is received through sight and, what’s more, we retain 42% more information when the content moves.

• Generate experiences with your content.
• It’s got the Wow effect. Very Wow.
• Make sure your audience remembers the message.

Got an idea?

Let the communication flow!

With Genially templates, you can include visual resources to wow your audience. You can also highlight a particular sentence or piece of information so that it sticks in your audience’s minds, or even embed external content to surprise them: Whatever you like!Do you need more reasons to create dynamic content? No problem! 90% of the information we assimilate is received through sight and, what’s more, we retain 42% more information when the content moves.

• Generate experiences with your content.
• It’s got the Wow effect. Very Wow.
• Make sure your audience remembers the message.

Got an idea?

Let the communication flow!

With Genially templates, you can include visual resources to wow your audience. You can also highlight a particular sentence or piece of information so that it sticks in your audience’s minds, or even embed external content to surprise them: Whatever you like!Do you need more reasons to create dynamic content? No problem! 90% of the information we assimilate is received through sight and, what’s more, we retain 42% more information when the content moves.

• Generate experiences with your content.
• It’s got the Wow effect. Very Wow.
• Make sure your audience remembers the message.

Got an idea?

Let the communication flow!

With Genially templates, you can include visual resources to wow your audience. You can also highlight a particular sentence or piece of information so that it sticks in your audience’s minds, or even embed external content to surprise them: Whatever you like!Do you need more reasons to create dynamic content? No problem! 90% of the information we assimilate is received through sight and, what’s more, we retain 42% more information when the content moves.

• Generate experiences with your content.
• It’s got the Wow effect. Very Wow.
• Make sure your audience remembers the message.

Got an idea?

Let the communication flow!

With Genially templates, you can include visual resources to wow your audience. You can also highlight a particular sentence or piece of information so that it sticks in your audience’s minds, or even embed external content to surprise them: Whatever you like!Do you need more reasons to create dynamic content? No problem! 90% of the information we assimilate is received through sight and, what’s more, we retain 42% more information when the content moves.

• Generate experiences with your content.
• It’s got the Wow effect. Very Wow.
• Make sure your audience remembers the message.

Got an idea?

Let the communication flow!

With Genially templates, you can include visual resources to wow your audience. You can also highlight a particular sentence or piece of information so that it sticks in your audience’s minds, or even embed external content to surprise them: Whatever you like!Do you need more reasons to create dynamic content? No problem! 90% of the information we assimilate is received through sight and, what’s more, we retain 42% more information when the content moves.

• Generate experiences with your content.
• It’s got the Wow effect. Very Wow.
• Make sure your audience remembers the message.

Got an idea?

Let the communication flow!

With Genially templates, you can include visual resources to wow your audience. You can also highlight a particular sentence or piece of information so that it sticks in your audience’s minds, or even embed external content to surprise them: Whatever you like!Do you need more reasons to create dynamic content? No problem! 90% of the information we assimilate is received through sight and, what’s more, we retain 42% more information when the content moves.

• Generate experiences with your content.
• It’s got the Wow effect. Very Wow.
• Make sure your audience remembers the message.

Got an idea?

Let the communication flow!

With Genially templates, you can include visual resources to wow your audience. You can also highlight a particular sentence or piece of information so that it sticks in your audience’s minds, or even embed external content to surprise them: Whatever you like!Do you need more reasons to create dynamic content? No problem! 90% of the information we assimilate is received through sight and, what’s more, we retain 42% more information when the content moves.

• Generate experiences with your content.
• It’s got the Wow effect. Very Wow.
• Make sure your audience remembers the message.

Got an idea?

Let the communication flow!

With Genially templates, you can include visual resources to wow your audience. You can also highlight a particular sentence or piece of information so that it sticks in your audience’s minds, or even embed external content to surprise them: Whatever you like!Do you need more reasons to create dynamic content? No problem! 90% of the information we assimilate is received through sight and, what’s more, we retain 42% more information when the content moves.

• Generate experiences with your content.
• It’s got the Wow effect. Very Wow.
• Make sure your audience remembers the message.