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About Noonan Syndrome

Epidemiology

Abstract

This study aims to provide information about Noonan Syndrome. This type of disorder is found in two or more ethnic groups. This condition is inherited in families and follows an autosomal dominant pattern. In either case, males and females are equally affected. Individuals that are affected by this condition usually experienced bleeding, development of puberty delay, hearing problems, learning disabilities, and etc. Diagnosis of this disorder is usually made often until adulthood because some of its features are subtle and hard to identify. Since noonan syndrome has no cure, treatments can help minimize its effects. Treatment of the symptoms and complications depends on type and severity. Growth hormone, for example, is used for short stature problem which is commonly found in patients associated with this disorder.

Introduction

Noonan syndrome is a disorder that involves unusual facial characteristics, short stature, heart defects present at birth, bleeding problems, developmental delays, and malformations of the bones of the rib cage.

Noonan syndrome is inherited in families in an autosomal dominant pattern. This means that a person who has Noonan syndrome has one copy of an altered gene that causes the disorder. In many individuals who have Noonan syndrome, the altered gene happens for the first time in them and neither of the parents has Noonan syndrome. This is called a de novo mutation. The chance for these parents to have another child with Noonan syndrome is very small (less than 1 percent).

This study contains the following objectives:

·         History of Noonan Syndrome

·         Incidence Rate

·         Hallmarks of the Disorder

·         Diagnosis

·         Challenges and Life Expectancy; and

·          Treatment of Disorder

Figure 1.0 Pedigree Analysis of Autosomal Dominant Trait

 History of the Disorder

Noonan syndrome was first recognized as a unique entity in 1963 when Noonan and Ehmke described a series of patients with unusual facies and multiple malformations, including congenital heart disease. These patients were previously thought to have a form of Turner syndrome, with which Noonan syndrome shares numerous clinical features. The observation that patients with Noonan syndrome have normal karyotypes was important in allowing the distinction to be made between the Turner and Noonan syndromes.

Incidence Rate

Noonan syndrome is panethnic - pertaining to a belief, feature, trait or disease that is found in two or more ethnic groups. This syndrome occurs in either a sporadic or autosomal dominant fashion. In either case, males and females are equally affected. The disorder is present from birth, but age impacts the facial phenotype. Infants with Noonan syndrome can be difficult to recognize by facial appearance alone. The phenotype becomes more striking in early childhood, but with advancing age, it may again become quite subtle. Careful examination of an affected child's parents may in fact reveal that they are mildly affected.

 Using Punnet Square:

50% chance of the offsprings will inherit the disorder

50% chance of which will not inherit the disorder

  Hallmarks of the Disorder

Noonan Syndrome can cause variety of signs and symptoms. One of the symptoms of this condition are the following:

Facial appearance is one of the key clinical features that lead to a diagnosis of Noonan syndrome. These features may be more pronounced in infants and young children, but change with age. In adulthood, these distinct features become more subtle. These features include the following:

·         Eyes are wide-set and down-slanting with droopy lids. Irises are pale blue or green.

·         Ears are low-set and rotated backward.

·         Nose is depressed at the top, with a wide base and bulbous tip.

·         Mouth has a deep groove between the nose and the mouth and wide peaks in the upper lip. The crease that runs from the edge of the nose to the corner of the mouth becomes deeply grooved with age. Teeth may be crooked, the inside roof of the mouth (palate) may be highly arched and the lower jaw may be small.

·         Facial features may appear coarse, but appear sharper with age. The face may appear droopy and expressionless. Head may appear large with a prominent forehead and a low hairline on the back of the head.

·         Skin may appear thin and transparent with age.

Heart disease

Many people with Noonan syndrome are born with some form of heart defect (congenital heart disease), accounting for some of the key signs and symptoms of the disorder. Some heart problems can occur later in life.

Growth issues

Noonan syndrome can affect normal growth. Many children with Noonan syndrome don't grow at a normal rate. Issues may include the following:

1.    Birth weight will likely be normal, but growth slows over time.

2.    Eating difficulties may result in inadequate nutrition and poor weight gain.

3.    Growth hormone levels may be insufficient.

4.    The growth spurt that's usually seen during the teenage years may be delayed. But because this disorder causes bone maturity to be delayed, growth sometimes continues into the late teens.

5.    By adulthood, some people with Noonan syndrome may have normal height, but short stature is more common.

Learning disabilities

Intelligence isn't affected for most people with Noonan syndrome. However, individuals may have:

1.    An increased risk of learning disabilities and mild intellectual disability

2.    A wide range of mental, emotional and behavioral issues that are usually mild

3.    Hearing and vision deficits that may complicate learning

Eye conditions

A common sign of Noonan syndrome is abnormalities of the eyes and eyelids. These may include:

1.    Problems with the eye muscles, such as cross-eye (strabismus)

2.    Refractive problems, such as astigmatism, nearsightedness (myopia) or farsightedness (hyperopia)

3.    Rapid movement of the eyeballs (nystagmus)

4.    Cataracts

Hearing problems

Noonan syndrome can cause hearing deficits due to nerve issues or to structural abnormalities in the inner ear bones.

Bleeding

Noonan syndrome can cause excessive bleeding and bruising due to clotting defects or having too few platelets.

Genital and kidney conditions

Many people, especially males, with Noonan syndrome can have problems with the genitals and kidneys.

1.    Testicles. Undescended testicles (cryptorchidism) are common in males.

2.    Puberty. Puberty may be delayed in both boys and girls.

3.    Fertility. Most females develop normal fertility. In males, however, fertility may not develop normally, often because of undescended testicles.

4.    Kidneys. Kidney problems are generally mild and occur in a fairly small number of people with Noonan syndrome.

 Diagnosis

A diagnosis of Noonan syndrome is usually made after a doctor observes some key signs, but this can be difficult because some features are subtle and hard to identify. Sometimes, Noonan syndrome isn't diagnosed until adulthood, only after a person has a child who is more obviously affected by the condition.

In most cases, Noonan syndrome can be confirmed by a blood test for the various genetic mutations. However, in about 1 in 5 cases no specific mutation can be found, so a negative blood test will not rule out Noonan syndrome.

Further testing

If Noonan syndrome has been confirmed or is strongly suspected, further tests are needed to establish the extent of the symptoms. These tests may include:

·         an electrocardiogram (ECG) – where electrodes (small, metallic discs placed on the skin) measure the electrical activity of the heart

·         an echocardiogram – an ultrasound scan of the heart

·         an educational assessment

·         blood tests to check how well the blood clots

·         eye tests – to check for problems such as squints or blurred vision

·         hearing tests – to check for problems such as hearing loss caused by otitis media or damage to the cells or nerves inside the ear

Some of these tests may need to be repeated regularly after the diagnosis, to monitor the condition.

Diagnosis during pregnancy

If a pregnant, it may be possible to test the unborn baby for Noonan syndrome if:

·         She, the partner or a close family member has been found to carry one of the faulty genes associated with the condition

·         routine ultrasound scans detect possible signs of the condition in your baby, such as polyhydramnios (an excessive amount of amniotic fluid), pleural effusion (fluid in the space around the lungs) or a build-up of fluid in certain other parts of the body

Testing for Noonan syndrome during pregnancy involves collecting a sample of your baby's DNA and checking it for any of the faulty genes associated with the condition.

This can be done using either chorionic villus sampling (where a sample of cells is removed from the placenta) or amniocentesis (where a sample of amniotic fluid is removed). Both of these tests carry around a 1% chance of causing a miscarriage.

 Challenges and Life Expectancy

A person with this kind of condition (Noonan Syndrome) have usually short stature. At birth, their height and weight is still normal, but growth slows over time. Another is, individuals with Noonan Syndrome usually experienced excessive bruising, nosebleeds, or prolonged bleeding following injury or surgery. Rarely, women with Noonan syndrome who have a bleeding disorder have excessive bleeding during menstruation (menorrhagia) or childbirth. Meanwhile, adolescent males typically experience delayed in puberty. They go through puberty starting at age 13 or 14 and have a reduced pubertal growth spurt that results in shortened stature. Most males with Noonan syndrome have undescended testes (cryptorchidism), which may contribute to infertility later in life. Females with Noonan syndrome can experience delayed puberty but most have normal puberty and fertility.

 Treatment and Rehabilitation

Although there's no way to repair the gene changes that cause Noonan syndrome, treatments can help minimize its effects. Treatment of the symptoms and complications that occur with Noonan syndrome depends on type and severity. Management guidelines have been developed by an international guideline development group under the guidance of Noonan Syndrome Support Group (NSSG), and age-specific screening and testing is advised for certain problems.

·         Cardiovascular Problems: An expert cardiologist opinion should be taken, further followed by ECG and echocardiogram checking. Followed by a checkup of ejection fraction and certain after evaluation surgical or medical corrections, if any.

·         Growth and Endocrine System Problems: Children should be weighed and their heights measured and the same should be plotted on appropriate growth charts.

 ·         Children with evidence of growth failure should have baseline investigations and nutrition correction by appropriate methods.

·         Thyroid function tests and antibodies should be done in those with symptoms of hypothyroidism or a goiter.

·         Children with delayed puberty should be referred to an endocrinologist for expert opinion.

·         Therapeutic interventions as indicated - growth hormone treatment for growth failure, thyroxin for hypothyroidism, estrogen or testosterone for pubertal growth delays.

·         Growth hormone has been successfully used in the treatment of short stature associated with Noonan syndrome.

·         Problems with the Renal and Genitourinary System: Renal ultrasonography is mandatory; to diagnose undescended testes and corrective surgery for the same should be done at 1 year of age.

·         Nutrition: Consultation for feeding difficulties or recurrent vomiting, with or without bile in the vomitus should be made as early as possible to prevent malnourishment

·         Hematology; A complete blood count should be done to spot problems with the hematological system.

·         Neurological, Cognitive and Behavioral Problems: Developmental screening annually with complete neuropsychological testing if the screening result is not satisfactory.

·         Problems with the Eyes and Ears: A full eye checkup followed by a full audiology and speech checkup should be done.

·         Treatment for Noonan Syndrome - Ear Checkup

·         Orthopedic and Dental Problems: Annual examination of the chest and back should be done. Oral examination is done during each visit.

·         Problems with the Lymphatic System: Those with peripheral lymphoedema should be referred to specialty lymphoedema clinics and associated hospitals.

·         Risk while Undergoing Anesthesia: Individuals with Noonan syndrome are at an increased risk of malignant hyperthermia when receiving general anesthesia compared to the unaffected ones, and certain anesthetic agents need to be stopped and avoided.

 Importance of the Study

    Knowing what is Noonan Syndrome is very important especially for individuals who has this kind of disorder. Through this study, it would help them to be aware of this particular condition. They would be able to know Its cause and symptoms, and how to deal with it.  Morever, this study would help them gain knowledge about the possible treatments that could be done in order to lessen the symptoms' effects since this type of disorder has no cure yet.

 Conclusion

As i go further on my study, i have learned that Noonnan symdrome Is a rare disease. This disorder usually occurs in an autosomal dominant pattern. Noonan syndrome is sometimes compared with Turner disorder because of their similarities in some features such as short stature which is commonly found in two. In contrast, noonan syndrome can affect both males and females meanwhile, turner syndrome only affect females. Noonan syndrome appears to affect more males than females and is thought to affect approximately one in 1,000 to one in 2,500 people. However, other reports indicate that the disorder may affect more than one in 1,000 newborns in the general population. Noonan syndrome may be difficult to confirm in such cases (particularly if there is no family history of the disorder), certain advanced imaging techniques and laboratory tests may be used to detect, confirm, and/or characterize specific abnormalities that may be associated with Noonan syndrome.

  Bibliography

1   Margaret M McGovern, MD, PhD Professor and Chair of Pediatrics, Stony Brook University School of Medicine. Epidemiology from 

 http://emedicine.medscape.com/article/947504-overview#a6

 2  National Human Genome Research Institute. Learning About Noonan Syndrome from

 https://www.genome.gov/25521674/learning-about-noonan-syndrome/#al-3

3  http://www.mayoclinic.org/diseases-conditions/noonan-syndrome/diagnosis-treatment/treatment/txc-20229316

4 U.S National Library of Medicine. Noonan Syndrome from 

https://ghr.nlm.nih.gov/condition/noonan-syndrome#definition

5    Dictionary of Human Evolution and Biology from 

http://human-biology.key-spot.ru/search.php?key=panethnic

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We Filipinos are Bayani-Oriented. The photo from above is Saint Pedro Calungsod who is a Filipino Roman Catholic martyr who was killed while doing missionary work in Guam in 1672. He was then praised by Pope Benedict XVI for his heroic courage in facing death. His desire to win souls for Christ made him resolute in accepting martyrdom.

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“My Kind Of Love”

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Staying mentally Healthy

Dear Kuya Treb,

       Hey bro! How’s your day? I need you to tell something. I have depression. From these past few days, I’ve constantly facing many problems such as school stuffs. For me, doing performance tasks  is so stressful. Sometimes, I find it hard to focus because my head are full of stressful things and it greatly affect my studies.Wish you were here to help me resolve all this problems. Truly Yours, Julbert

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Stress is part of our everyday life and is inevitable. And we cannot always prevent or alter the situations that cause it but we can choose how we respond to stress. 

As a student, one of the cause of my stress is the school stuff. I constantly facing many different challenges/problems and ended up with stress. Below are some strategies of mine busting out stress:

Listening to Music.  The soothing power of music is well-established. It has a unique link to our emotions, so can be an extremely effective stress management tool. Listening to music can have a tremendously relaxing effect on our minds and bodies, especially slow, quiet classical music.

Foods. Eating help relieve our tension. It may help stabilize blood sugar or, better yet, our emotional response.

Get more fresh air.  If you want to feel less stressed, try to get more fresh air by going out, or making use of city parks.

Take the stress in and release it. Literally embrace whatever it is you're going through and then let it go. Doing this allows you to take the good with the bad. Then reverse your hands and push them out, releasing your tension. When you can control stress, it can no longer control you.

Find someone whom you can talk with. Approach someone (it could be your close friend or family) and have conversation with them. By doing so, it would help you feel relieve and reduce the stress.

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The traits of great leadership are to be admired. And often they are a prerequisite to manage a high performing team or to take a start-up from humble beginnings to roaring success. A leader achieves nothing but mediocrity or always at the average level. Below are traits on becoming a good leader:

1. Ambition - Great leaders boldly drive forward, passionately rising to new heights, clearing a path for those who follow.

2. Patience - Great leaders use the wheels of time to their advantage, knowing that fast and first are rarely the attributes of long-term success. 

3. Humility - Great leaders are energized not by being right, but rather by the glory that comes from the entire team reaching the pinnacle of success.

4. Humor - Great leaders never take anything too seriously, especially themselves, knowing full well that people need a congenial environment to succeed.

5. Vision - Great leaders are able to see a future and can articulate, in crystal clear language, a strategic plan to get everyone there.

6. Compliance - Great leaders know how to play by the rules since even a rebel has to build respect and order for sustainability.

7. Tolerance - Great leaders accept that people are individuals who thrive best when allowed to choose their own approach to risk and happiness.

8. Courage - Great leaders blaze a trail in the dark and shed their own light, despite knowing that terror lurks around corners.

9. Accountability - Great leaders take full accountability when their team fails regardless of where mistakes were made or whose performance was substandard.

10. Gratitude - Great leaders demonstrate appreciation loudly and often to those who give of themselves to support the group's success. Great followers show appreciation for those who take the risks, drive the team and charge to a benevolent success.

Having these 10 traits, it will help you become a good leader someday.

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“The Emotion Challenge”

Whilst we feel emotions on an ongoing basis, we sometimes enter a state of arousal, in which our bodies experience heightened physiological activity and extremes of emotion. This can be both powerful and dangerous, both for ourselves and for others. States of arousal can be positive and negative and it include fear, anger, curiosity and love, which are felt with an overpowering intensity that drives us to act, often in an unthinking way.

As human beings, we sometimes carried away by our emotions. As the result, we make incorrect decisions or rather inappropriate decisions which we could have never taken.

So how can we avoid operating on the wrong types of feelings and master our emotions under the harshest of circumstances? Try to follow these tips and you would be able to control your emotions.

Don’t react right away.  Reacting immediately to emotional triggers can be an immense mistake.  Continue to breathe deeply for five minutes, feeling as your muscles untense and your heart rate returns to normal. As you become calmer, affirm to yourself that this is only temporary.

Stop and think before you act.  If you're in a situation where your emotions are building to a point where you may have trouble maintaining control - stop!

Ask for divine guidance. Faith is our saving grace in our darkest moments. No matter your creed, developing a healthy relationship with the divine world will help you surmount your obstacles more easily. When burdened with emotion, close your eyes, envision a positive solution to your problem, and ask the universe to illuminate the best path forward.

Try to release your emotion in a healthy way.  Emotions should never be bottled up. Call or go see someone you trust and recount to them what happened. Hearing an opinion other than your own broadens your awareness. Also, you can transfer your emotions  from your inner self onto the paper.

Think always the brighter side.  Whenever you are confronted with an emotion which is making you feel or think something bad, force it out of your mind and replace it with a different thought. Imagine the ideal resolution to your problem playing out, think about someone who makes you happy or remember an event that makes you smile.

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“The Genogram”

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“This Works For Me Too!”

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“Morale Boosters”

From Jm:

Berto! Salamat sa pagpa minaw sa akong mga nonsense talkings og salamat kay sabay kaayo ka.Gamita na imong pagka sabay in your future career.Amping nunay Berto! God bless.

From Kristine Echeveria:

Hi bert! A friend who's always willing to help people whenever they needed one. You're that type of a person who won't settle for less, but for the best, and maybe that's what most of the people admire about you. You're that type of a person who would always understand everything as much as you can and as best as you can. Just keep being you bert and you'll be able to achieve the things that you want in your life. Don't let negativity stop you from aiming higher. God bless you always!

From Eljay:

“Don't give up on anything. Try it, try everything “

From Ron Marie:

"Don't use failure as an excuse. instead, use it to gain success."

From Gel:

“Engage workshops today, gain confidence tomorrow.” 

From Luz Nina:

Dear Julbert, 

 The world is so beautiful yet people chooses to close their eyes. Choose to open yours, conquer and explore the beauty of the world. Do what you love and be what you want to be.

From Yvonne:

“Smile. You are beautiful”

From Jillian:

Bertyyy 

 Dearest Bertossium. 

I would like to start this letter formally but I figured a good laugh will be off to a great start, so you're ugly. Anyways, You have been a friend of mine for the past three years? And that's enough time for me to know partially about you. You're a person whom has strong thoughts. Let these thoughts continue to wander as a way of knowing yourself. Never ignore your personal traits and unique characteristics embrace them cause they make you who you are. If ever a problem arises I know that you can surpass all of them, you're a strong person I can see that but in times when you've had enough let me tell you that it's okay to seek help and rest, it's not a sign of weakness, it's a sign of a warrior reloading his gun to fight much harder battles. Continue reaching for your goals cause I know that someday you'll get through these problems and achieve all you aspire to be. And if there comes a time where no one will support, I will keep on wandering in your mind saying "You can do it"

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Personal Development and Career Goals

ACHIEVEMENTS:

Graduated Elementary and Junior High School

Able to obtain 3rd honor award

Able to enter the Top 10 in class

RESPONSIBILITIES:

As a student, one of my responsbilities are of course my studies. 

Another thing is doing household chore.

GOALS IN LIFE:

Able to pass all the subjects 

No failling grade

One of the Top10 student in class

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my relationship with God: on my gigantic canvass of life, I am the one throwing all of the brightly-colored paints, creating genuine splatters, authentic whirlpools of color, beautiful patterns, wonderful streaks and stains and wild accents; God is the one with the paintbrush who stands beside my canvass filling all the intricate and amazing details in between the whirlpools and the streaks! "I can do all things through him who strengthens me." -Philippians 4:13

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As the years passed through many changes happened in our lives. It could be our physical appearance and the spiritual aspect that we have.