What is Hyperkalemic Periodic Paralysis?

 

Hello All,

Each day I get a little stronger from my last bout with paralysis a few days ago and for this I am thankful. I have been able to continue my writing, editing and analyzing our survey. Thank goodness I can do those things while sitting in a recliner!! With only one week left until Christmas, I am also relieved to know that my Christmas shopping is completed, and was also done in the comfort of my recliner.

                                      What is Hyperkalemic Periodic Paralysis?

Hyperkalemic Periodic Paralysis is a form of Periodic Paralysis, a very rare, hereditary metabolic disorder also called a channelopathy. If an individual has Hyperkalemic Periodic Paralysis they become partially or fully paralyzed intermittently. The paralysis results from problems with the way the body controls sodium and potassium levels in the cells. It is associated with high levels of potassium (hyperkalemia) during paralytic episodes.

When potassium shifts into higher ranges in normal individuals, it is called hyperkalemia. High potassium levels in the blood will occur for anyone and a myriad of symptoms may be experienced and can be dangerous, even deadly. If an individual has Hyperkalemic Periodic Paralysis and potassium shifts into higher ranges, he or she can and will experience a combination of the same myriad of symptoms as well as paralysis and can be equally as dangerous and deadly.
 

When potassium levels are at a slightly elevated level there may be no symptoms. At a moderately higher level, which is usually between 5.5 and 6.5 mEq/L, there may be some symptoms involving muscles, digestion, kidneys, electrolyte balance, the liver and the heart.

Potassium levels above 6.5 mEq/L are very serious and usually require medical attention.

Muscles: Fatigue, weakness, pins and needles, tingling or numbness in the extremities, muscle contraction, muscle rigidity, muscle cramps, muscles stiffness, muscle twitching, muscle cramping, reduced reflexes, muscle contraction involving tongue, tightness in legs, strange feeling in legs.

Digestion: Discomfort, nausea, vomiting, stomach cramps, diarrhea, vomiting.

Heart: Palpitations, chest pain, irregular heartbeat, slow heartbeat, weak pulse, absent pulse, heart stoppage, small P waves, tall T waves, QRS abnormality, P wave abnormality, QT lengthening, fast heartbeat.

Kidneys:  Breathing problems, wheezing, shortness of breath, fast breathing, feeling hot, low blood pressure.

Liver: The brain function becomes affected: Irritability, sleepiness, confusion, seizures, loss of consciousness.

Paralysis: Episodic muscle weakness, episodic partial paralysis, episodic total paralysis.
Laboratory blood changes: Elevated blood potassium, serum sodium level elevated, Serum CPK (creatine).

 

Laboratory urine changes: Elevated urine pH level.

An individual with Periodic Paralysis may have his or her own individual levels of potassium at which symptoms or paralysis occurs. What may be normal ranges for someone may be high for another. Using a potassium reader to discover one's high, normal and low ranges is suggested, for better treatment.

Factors which can trigger attacks include rest after exercise, potassium-rich foods, stress, fatigue, weather changes, certain pollutants (e.g.: cigarette smoke), periods of fasting, cold temperatures, certain anesthetics, depolarizing muscle relaxants, other medications which increase potassium levels, alcohol and heavy exercise.

Attacks may be reduced by:
Avoiding high potassium foods, drugs known to increase potassium level and fasting.  Also it is important to stay warm, engage in mild regular exercise if possible and avoid known triggers.

Some drugs, which can be effective for treating the symptoms, are available for individuals with Hyperkalemic Periodic Paralysis but they should be used with extreme caution due to serious side effects.
 

https://en.wikipedia.org/wiki/Hyperkalemic_periodic_paralysis 

http://quest.mda.org/series/focus-periodic-paralysis/periodic-paralyses

http://www.med.nyu.edu/content?ChunkIID=96851

Until later...

Hope For Individuals With Periodic Paralysis

Hello All,

I am struggling today, especially with my breathing and speech. Early last evening I went into a full body paralytic episode. It lasted for a few hours, and I was thankful that I was able to fall asleep for part of it. As usual, I could not open my eyes or speak. After I slipped into it, my head fell forward and thankfully Calvin noticed right away because it was getting painful. He reclined my chair back and fixed my head. He put a blanket around it so it could not fall to either side and become painful. Then I fell asleep. After I woke up, it was quite a while before I was able to open my eyes. I could finally see the TV and Christmas tree lights again. It was a little while longer before I could move my fingers. I was surprised at the time; much later than I thought. Calvin helped me to the bathroom...always the most embarrassing for me and then to bed. Thank you Calvin. I love you too.

Hope For Individuals With Periodic Paralysis

What is hope? According to Longman Dictionary of Contemporary English ¹ hope is “a feeling of wanting something to happen or be true and believing that it is possible or likely.” Another dictionary states hope is a "feel[ing] that something desired may happen". Hope is a sense or desire that things will turn out for the best. The word hope may be used as a noun or a verb. ²

In terms of my life with Periodic Paralysis, which is a very rare, debilitating, metabolic disorder, many doctors, including the specialists, have told me that there is nothing they can do for me. I can take no medications, have no surgeries and I am in a gradually declining physical state. I would be dead now if it were not for my husband, Calvin’s research and fight for the things that now keep me alive and are giving me a better quality of life. He found that preparing and feeding me a pH balanced diet with needed supplements, providing me with oxygen therapy, helping me to discover and avoid my triggers, sheltering me from stress, keeping me hydrated, monitoring my vitals and remaining optimistic brought me back from the brink of death and reduced my paralytic episodes from 4 or 5 full body attacks a day lasting several hours at a time to 1 or 2 less severe episodes a month!

He had hope. He had a desire that things would turn out for the best. He was correct in what he did and how he did it and was optimistic that I would get better. He maintained hope that I would improve in all ways and the truth is that I did. Since that time, because of his hope and optimism, we wrote and published, six months ago, the first book about Periodic Paralysis. It is about how he maintained hope and brought me back from near death, to being able to write a book about it.

Not long after Living With Periodic Paralysis: The Mystery Unraveled was published, someone from another PP organization dared to write me and tell me that my book did not provide “hope” for people with Periodic Paralysis. This person obviously did not read all 430 pages; in fact they probably did not read even the front matter of the book or the Table of Contents.

The word “HOPE” first appears on page iv in the Table of Contents where Chapter Eleven, “Reality and HOPE” is listed. It then appears on pages xi, xii, and xiii.  On page xii I write to my brothers: “I hope the things in this book will help you to find a better quality of life.”  Calvin uses the word “HOPE” on page xiii, in the first sentence of his Acknowledgements.

In my Introduction, on pages 4 and 5 I use the word “HOPE” six times in the last paragraph:

”We hope everyone reading this book will have a better understanding of Periodic Paralysis. If you have a form of Periodic Paralysis, we hope you can improve the quality of your life by following our natural and common sense plans and advice. If you do not have a diagnosis we hope our ideas will be instrumental in helping you to get a diagnosis. If you are a doctor or health care provider, we hope you will be able to recognize, diagnose and treat individuals with Periodic Paralysis correctly, in a timely manner. If you are a social worker, therapist, caregiver, family member or friend, we hope you will be able to offer the understanding and support needed to your patient, family member, or friend who has this condition with your newly gained information. We especially hope you will know that you are not alone.”

The final page in which “HOPE” appears is 384, in my Conclusion. I wrote: “Today was a ’“Precious Stone Day.’ I was able to write this and share it with you. I hope that after reading this book you will begin to have more  ‘Precious Stone Days’ and even some ‘Diamond Days.’”

The following are the pages in which the word, “HOPE” appears:

 
hope, xi, xii, xiii, 3, 5, 54, 69, 75, 93, 174, 177, 189,  224, 226, 258, 299, 300, 304, 312, 325, 330, 336, 338, 339, 343, 358, 360, 365, 375, 379, 380, 384

My book, Living With Periodic Paralysis: The Mystery Unraveled was written in four distinct sections. The following is how the sections are described:

”After a lifetime of experience and taking over two and one half years of experimentation, detailed research and tremendous study to write, living with Periodic Paralysis answers all of the questions of the what, when, where, how and why of Periodic Paralysis and unravels all of the mysteries of this rare condition. Part One contains an account of my medical issues from birth until the present, in the hope of creating a scenario for which doctors and patients alike may be able to recognize the disease in its early stages. Part Two of the book covers every aspect of Periodic Paralysis. It is written in an easy to understand format. Each chapter is written with brutal honesty, and contains what the other books, discussion boards or medical sites about Periodic Paralysis on the Internet will not tell you. It is based on my experiences and what we learned through them. Part Three discusses the natural methods and technical information used to manage the symptoms based on years of research and experimentation. Part Four deals with the again brutally honest emotional, psychological and social aspects related to living with Periodic Paralysis for the patient, caregiver and family not found anywhere else.”

Over 200 pages, the entire second and third parts or sections of this book, are entirely devoted to understanding Periodic Paralysis and offer an entire plan to improving ones life by using natural and common sense methods and ways to avoid developing complications.

Part Two: Understanding  Periodic Paralysis

 

Chapter   12:	What is Periodic Paralysis?	73
Chapter 13:	Andersen-Tawil Syndrome	81
Chapter 14:	What is an Ion Channelopathy?	95
Chapter 15:	Description of Paralytic Attacks	103
Chapter 16:	Potassium	115
Chapter 17:	Triggers	121
Chapter 18:	Prognosis	127
Chapter 19:	Complications	135

Part Three: Managing Periodic Paralysis

Chapter 20:	Treating and Managing Periodic Paralysis	181
Chapter 21:	Educating Yourself	187
Chapter 22:	Discovering Your Triggers	193
Chapter 23:	Relieving Your Symptoms	205
Chapter 24:	Monitor Your Vitals	223
Chapter 25:	Finding a Doctor Who Cares	235
Chapter 26:	Getting a Clinical Diagnosis	245
Chapter 27:	Assembling and Directing the Team	261
Chapter 28:	Directing the Paramedics	267
Chapter 29:	Directing the Emergency Room Staff	277

Although I remain in a continual gradual decline, due to several wrong diagnoses, improper treatments and wrong medications over 62 years, which all caused permanent damage, I know that most everyone else with Periodic Paralysis will not end up like me. I have hope and am optimistic that most individuals can tolerate the medications available and maintain a fairly normal and productive life. I remain hopeful that those with forms of Periodic Paralysis, which do not respond to the medications or are made worse by them, can follow the plan laid out in our book, improve their conditions and live a much more normal and productive life. I remain hopeful and optimistic because I see it happening everyday to the people in our PPN Support and Education Group and to those who are reading our book. We share our knowledge and experience and everyday we see and hear about the lives being changed for those who are willing to make the lifestyle changes. It is not an easy path for us. We must walk a constant tightrope, but we do not give up hope.

                      

Living With Periodic Paralysis: The Mystery Unraveled, offers HOPE to everyone with Periodic Paralysis.

1. p://www.ldoceonline.com/dictionary/hope_2
2. "Hope | Define Hope at Dictionary.com". Dictionary.reference.com. 1992-11-27. Retrieved 2012-10-02.
   
   
   Until later…

Conversion Disorder vs Periodic Paralysis

Hello All,

(There are many names for it....conversion disorder, somatization, functional disorder (FND), lying, faking it, and much more...but nearly everyone of us has been treated as if we were faking our symptoms and some of us have been diagnosed with 'conversion disorder'...it is so wrong and we continue to hear the horror stories as our new members join us.....)


The term "conversion disorder" comes up often in our support group. We have all been victims of this mislabel much to our detriment. With each wrong diagnosis and wrong medication we get sicker, more damage is done to our organs and permanent muscle weakness sets in. We risk death each time we go into paralysis. My blog today is about conversion disorder.

Although it took me 62 years to get a diagnosis, statistics indicate it takes approximately 20 years for someone to get a diagnosis for Periodic Paralysis. This is inexcusable and is due to several factors. First, everything else must be ruled out and secondly, because it looks “fake” to doctors. One of the physicians, who originally diagnosed me, told me that of the few patients he has had with Periodic Paralysis, they were all diagnosed with “conversion disorder” before they got their diagnosis. I myself received this diagnosis, as did most of the more than 1,000 members of my Periodic Paralysis Network Support and Education Group.

This did not happen 100 or 50 years ago, but in the past few months. One young woman went into full-body paralysis lasting many frightening hours. She came out of it to discover she was in such a weakened state that she could not walk or even do something as simple as getting dressed without becoming totally fatigued and she was in total body pain. Doctors evaluated her and sent her to a psychiatrist. She was diagnosed with conversion disorder and prescribed a well-known drug used to treat depressive disorders and a well-known pain reliever. She spent the next few months unable to walk and in excruciating pain and in and out of paralytic attacks each lasting many hours. She was unable to work or take care of her young children.

Upon learning of Periodic Paralysis (PP), after much research, her husband discovered the effects of the drugs on someone with PP. He found out that both medications had elements that can actually trigger the paralytic episodes. Immediately she began to taper off of them. Within weeks, the pain began to ease; she was able to stand and walk a few steps with help and became somewhat functional again. After a few more weeks she was walking with the aid of two canes and able to do simple tasks. She did not have any episodes of paralysis for two months. Though she does not have a diagnosis and probably will not get one for some time to come, her psychiatrist now regrets his diagnosis and prescribing the drugs. He has been referred for more tests to possibly diagnose Periodic Paralysis.

Another patient, an older man, has suffered with paralytic episodes for years. Gradual muscle weakness ensued until this person had to give up a teaching career. Testing ruled everything else out and a muscle biopsy revealed damage to muscle fibers consistent with PP. Despite these findings, after being forced to see a psychiatrist, the man was diagnosed with conversion disorder while in the hospital because of almost constant paralytic episodes.

This is just the tip of the iceberg for individuals with Periodic Paralysis. They have unexplained bouts with partial to total body paralysis, which include frightening heart arrhythmia; choking; fluctuating blood pressure and heart rate. While in this state they are unable to communicate, they are given IVs with medications/drugs/compounds, which make it worse. They are able to hear everything going on as the doctors insist they are faking it, insisting they are having pseudoseizures, pinching them or sticking them with needles to make them respond, demeaning and insulting them and their family members. Conversion disorder is written in the charts and comments like, “refused to lift leg when asked” was written rather than the truth, which was “cannot lift his leg when asked.” Some people actually die during these horrific ER or hospital stays and the death certificate may contain any number of false causes.

What is a conversion disorder? According to R.J. Brown,  "Conversion disorder presents with symptoms that typically resemble a neurological disorder such as stroke, multiple sclerosis, epilepsy or hypokalemic periodic paralysis. The neurologist must carefully exclude neurological disease, through examination and appropriate investigations. ¹

According to the DSM-IV-TR (2000) six criteria exist for diagnosing conversion disorder:

• The patient has one or more symptoms or deficits affecting the senses or voluntary movement that suggest a neurological or general medical disorder.
• The onset or worsening of the symptoms was preceded by conflicts or stressors in the patient's life.
• The symptom is not faked or produced intentionally.
• The symptom cannot be fully explained as the result of a general medical disorder, substance intake, or a behavior related to the patient's culture.
• The symptom is severe enough to interfere with the patient's schooling, employment, or social relationships, or is serious enough to require a medical evaluation.
• The symptom is not limited to pain or sexual dysfunction, does not occur only in the context of somatization disorder, and is not better accounted for by another mental disorder.

 http://www.minddisorders.com/Br-Del/Conversion-disorder.html#ixzz2nMNX3sEJ

Brown also suggests, "Another feature thought to be important was that symptoms would tend to be more severe on the non-dominant (usually left) side; there were a variety of theories such as the relative involvement of cerebral hemispheres in emotional processing, or more simply just that it was "easier" to live with a functional deficit on the non-dominant side. However, a literature review of 121 studies established that this was not true, with publication bias the most likely explanation for this commonly held view.[15] Although agitation is often assumed to be a positive sign of conversion disorder, release of epinephrine is a well-demonstrated cause of paralysis from hypokalemic periodic paralysis.[16]" ^{2, 3}

In conversion disorder, it is believed that the patient is unaware that he or she is causing the symptoms and he or she is very frightened. The symptoms come on suddenly and usually get worse. The main symptom is called pseudoparalysis.

“In pseudoparalysis, the patient loses the use of half of his/her body or of a single limb. The weakness does not follow anatomical patterns and is often inconsistent upon repeat examination”.

 http://www.minddisorders.com/Br-Del/Conversion-disorder.html#ixzz2nMhCccgP

These differences are key but problematic. Stress, good or bad, can be a trigger for an episode of paralysis, so an examining doctor may ask and discover there has been some stress in the recent past of the individual. The second issue is that most episodes of paralysis are full-body, but some may only have partial paralysis and only half of the body or only one limb is affected. There is not a person alive who would not be very frightened to become suddenly paralyzed and end up in the ER in need of medical attention. The episode may be inconsistent if the patient is given an IV or medication. This may cause new symptoms. Upon examination in an hour or two, either they are coming out of it or worse with different symptoms. This may all happen if someone has Periodic Paralysis.

 One further thing that needs to be noted; the statement about epinephrine is very concerning. If a medical professional knows that epinephrine can cause a paralytic episode in someone with Hypokalemic Periodic Paralysis or Andersen-Tawil Syndrome, he or she may take it upon themself to use it on the patient to trigger an episode. This can kill someone with PP so should never be done. Seeing it in writing in a study can lead an inexperienced doctor without all of the facts to try it. Provoking an episode to prove or disprove someone has a conversion disorder is absolutely not to be done. One of our young members died last year in this exact manner.

In all of my research, each article I found on the subject of conversion disorder listed Periodic Paralysis or one of its forms as a differential diagnosis; a condition that looks like or mimics it.

 
It makes me wonder if, in fact, individuals who actually had some form of Periodic Paralysis have been mistaken for conversion disorder and were the actual models for it. By that I mean, did people who were in actual full body paralysis due to PP or those who were in partial paralysis become the first individuals seen as having pseudoparalysis and that pseudoparalysis really does not exist?

  

So, as far as I am concerned, when an individual arrives in the emergency room in paralysis with no known cause, it should first be assumed that he or she has a form of Periodic Paralysis and he or she should be treated as such. Never should he or she be considered faking, adding more stress which, then leads to more paralysis. A protocol for treating Periodic Paralysis should then be followed.

1.     Brown, RJ. "Psychological mechanisms of medically unexplained symptoms: an integrative conceptual model." Psychol Bull. 2004 Sep;130(5):793–812.

2.      Roelofs K, van Galen GP, Keijsers GP, Hoogduin CA. "Motor initiation and execution in patients with conversion paralysis." Acta Psychol (Amst). 2002 May;110(1):21–34.

3.      16. Brown, R. J.; Cardena, E.; Nijenhuis, E.; Sar, V.; Van Der Hart, O. (2007). "Should Conversion Disorder Be Reclassified as a Dissociative Disorder in DSM V?". Psychosomatics 48 (5): 369–378. doi:10.1176/appi.psy.48.5.369. PMID 1787849

Until later...

What is Andersen-Tawil Syndrome?

Hello All,

I have been diagnosed with the rarest form of Periodic Paralysis called  Andersen-Tawil Syndrome. I was first diagnosed based on my symptoms and characteristics. This is called a "clinical diagnosis."  I now have a genetic diagnosis (KCNJ5). Andersen-Tawil Syndrome (ATS), given a name in 1971 was the first ion channelopathy discovered. It is a very rare form of Periodic Paralysis, a mineral metabolic disorder. ATS is an autosomal dominant disorder, which means it is usually passed by one parent to the child. If someone is a carrier his or her children have a 50% chance of being born with it or as a carrier. ATS accounts for approximately 10% of all periodic paralysis cases. It is characterized by three particular components: periods of paralysis from high, low or normal potassium levels, distinctive craniofacial and skeletal characteristics and long QT interval heartbeat with a predisposition toward life-threatening ventricular arrhythmia. However, affected individuals may express only one or two of the three components and they may be very subtle.

Some of these components and symptoms were found in my mother, possibly through her father, and many of her descendants; specifically, two of her three sons and me, her only daughter. Many of her grandchildren and great-grandchildren also have varying degrees of the characteristics and symptoms.

Some of the manifestations of this condition are serious and life-threatening. Each family member of someone diagnosed with ATS should be well educated about this syndrome, in particular, regarding the episodes of paralysis (full body or partial), the heart complications, the strange effects of most medications and the serious complications of anesthesia.

An individual is born with Andersen-Tawil Syndrome and symptoms may begin in early childhood or not until later in life. Members of the same family can have varying degrees of it or some of the characteristics without actually having it.

During an attack, brought on by many triggers to include: carbohydrates, sugar, medications, exercise, heat, cold, periods of sitting too long, stress (good or bad), etc; potassium leaves the organs it belongs in and goes into the muscles where it does not belong and paralyzes the muscles (totally or partially). The depletion of the potassium in the other organs can cause symptoms such as irregular heartbeat, weakness, fainting, numbness, tingling, breathing issues, choking/swallowing problems, exercise intolerance, etc. After many years the body can become permanently weakened.

It is important to get a diagnosis for proper treatment to avoid the permanent disabilities. It is also important so one can avoid the triggers and hopefully control the episodes as much as possible. Most over-the-counter medications, as well as those prescribed by physicians, such as antibiotics and painkillers, can cause serious consequences.  Many medications can cause an opposite effect such as sleeping aids can keep you awake and agitated.

Executive Functioning (EF) Disorder can accompany ATS. There are three primary layers of executive functions: self-regulation, organization and high order reasoning skills. It is associated with many disabilities: Attention Deficit Hyperactivity Disorder (AD/HD), Learning Disabilities (LD), Tourette Syndrome (TS), Obsessive-Compulsive Disorder (OCD), Autism, Depression, Bipolar, etc. It is important to have these conditions diagnosed as early as possible for proper treatment, training, and education.

To better explain and describe ATS I am including the following information I have collected over my years of research for the "Characteristics of Andersen-Tawil Syndrome." There are more than the 5 or 6 we typically read. Several articles are sighted for this section due to the differences in symptoms in some of them. Some personal information has been added for clarity.

Symptoms & Characteristics

Several articles are sighted in the following section due to the differences in symptoms in some of them. Some personal information has been added for clarity.

Anderson-Tawil syndrome is a disorder that causes episodes of muscle weakness (periodic paralysis), changes in heart rhythm (arrhythmia), and developmental abnormalities. The most common changes affecting the heart are ventricular arrhythmia, which is a disruption in the rhythm of the heart's lower chambers, and long QT syndrome. Long QT syndrome, is a cardiac channelopathy, which causes the heart (cardiac) muscle to take longer than usual to recharge between beats. If untreated, the irregular heartbeats can lead to discomfort, fainting (syncope), or cardiac arrest.

 

At this time, there are two recognized types of Andersen-Tawil syndrome, Type 1 and Type 2, which are distinguished only by their genetic causes. Type 1 has a known genetic mutation (either one of two forms KCNJ2 and KCNJ5). The other, Type 2, though the symptoms and characteristics are exactly the same, has no known genetic mutation, which has been discovered yet.  

Physical abnormalities associated with Andersen-Tawil syndrome typically affect the head, face, and limbs. These features often include a very small lower jaw (micrognathia), dental abnormalities, low-set ears, widely spaced eyes, and unusual curving of the fingers or toes (clinodactyly). Some affected people also have short stature and an abnormal curvature of the spine (scoliosis).

 

Symptoms

·Widely spaced eyes
· Short stature
· Scoliosis
· Webbed toes or fingers
· Unusual short fingers
· Low set ears
· Broad forehead
· Small jaw
· Protruding jaw
· Broad nasal root
http://en.wikipedia.org/wiki/Andersen–Tawil_syndrome

Disease characteristics.

Andersen-Tawil syndrome (referred to as ATS in this entry) is characterized by a triad of episodic flaccid muscle weakness (i.e., periodic paralysis), ventricular arrhythmias and prolonged QT interval, and anomalies such as low-set ears, ocular hypertelorism, small mandible, fifth-digit clinodactyly, syndactyly, short stature, and scoliosis. Affected individuals present in the first or second decade with either cardiac symptoms (palpitations and/or syncope) or weakness that occurs spontaneously following prolonged rest or following rest after exertion. Mild permanent weakness is common. Mild learning difficulties and a distinct neurocognitive phenotype (i.e., deficits in executive function and abstract reasoning) have been described.
www.ncbi.nlm.nih.gov/pubmed/20301441

Executive Functioning (EF) Disorder

Relates to difficulty in self regulation, organizing, integration, or high order reasoning skills.

"Executive Function disorder, is a disability of not being able to show what you know"

Executive Function disorder is associated with many disabilities: Attention Deficit Hyperactivity Disorder (AD/HD), Learning Disabilities (LD), Tourette Syndrome (TS) , Obsessive Compulsive Disorder (OCD), Autism, Depression, Bipolar, etc.

Most people with AD/HD also have Executive Function Disorder, but someone can have Executive Function Disorder without being diagnosed with a disability. Executive Function program and services would be needed if the student progress in the general growth in the acquisition of knowledge and skills are being negatively impacted.

Eight Pillars of Executive Control

 by Dr. Adam J. Cox, Ph.D., January 2009,

Minuteman Technical High School SEPAC presentation

1. Initiating Action being able to organize one’s thoughts well enough to get started on a particular task without having to be asked multiple times.
2. Flexible Thinking involves learning to adapt by shifting one’s focus and pace as various situations unfold. Imagine how difficult it would be to drive your car if it wouldn’t turn and only went one speed. (About as difficult as parenting a child with only one speed and one direction!)
3. Sustaining Attention focusing long enough and accurately enough to learn important information. By extension, attention also involves the ability to block distraction. A well-orchestrated “executive brain” knows its priorities.
4. Organization is about managing space. It’s also about taking the emotional impact of chaos seriously. Why? Because chronic disorganization undermines forward momentum – a sense of accomplishment.
5. Planning is about managing time, and is more important than any other executive pillar when it comes to finishing things on schedule. A planning mind uses time as a tool to clarify priorities and enhance productivity; indispensable skills to 21st century success, beginning with school and, eventually, careers.
6. Working Memory is the ability to retain information long enough for it to be stored in long-term memory. Our society has a word for this process – learning. Of all the executive controls, working memory is the most pervasive, contributing to the smooth operation of every pillar. (Working memory is the rocket fuel of the modern mind.)
7. Self-Awareness pertains to having both sufficient self-knowledge and an ability to perceive how others see you. This information is essential to making purposeful choices about how to act in situations where one wants to avoid unintended consequences that lead to isolation or ostracism.
8. Regulating Emotions means expressing one’s feelings in proportion to the events that elicited them. When a child under or over-reacts, she is out-of-sync with people or particular events. Socially, people tend to ignore a silent recluse, and run away from an “erupting volcano.”
From his book: No Mind Left Behind: Understanding and Fostering Executive Control- The Eight Essential Brain Skills every Child Needs to Thrive, by Adam J. Cox, Ph.D. Psychologist
Executive Function Skills, by Sarah Ward, MS, CCC-SLP, February, 2007 SPED PAC Presentation

3 Primary Layers of Executive Functions:

1.      Self-Regulation

a.      Awareness

b.      Motivation

c.       Initiation

d.      Emotional Control

2.      Self-awareness

a.     Self monitor the ability to inhibit or delay responding, which permits impulse control resistance to distraction and delay of gratification)

b.      Metacognition (Learning how to learn)

3.      Organization and Integration

a.      Integrate details into a bigger picture

b.     Organize and store information so it can be traced back and retrieved over time (Episodic Memory), (used for planning for the future)

4.      Higher Order Reasoning Skills

a.     Analyze

b.     Draw a conclusion

c.      Solve a problem

d.     Predict an outcome

e.     Reason

f.        Evaluate
http://concordspedpac.org/ExecutiveFunctions.html

Symptoms of Andersen-Tawil Syndrome

 

· Ventricular arrhythmia
· Abnormal heart rhythm
· Long QT syndrome increased time needed for heart to recharge after each heart beat
· Irregular heartbeat
· Discomfort
· Fainting caused by irregular heart beat
· Small lower jaw
· Dental abnormalities
· Low-set ears
· Widely spaced eyes
· Abnormal curving of fingers
· Abnormal curving of toes
· Short stature
· Abnormal curvature of the spine
http://www.wrongdiagnosis.com/a/andersen_tawil_syndrome/symptoms.htm

Distinctive physical features recognized initially included low-set ears, ocular hypertelorism, small mandible, fifth-digit clinodactyly, syndactyly, short stature, broad nasal root, and scoliosis [Andersen et al 1971, Tristani-Firouzi et al 2002, Donaldson et al 2003]. Dental enamel discoloration was noted in two kindreds with the Gly300Asp and Arg218Trp mutations [Davies et al 2005].
Detailed, prospectively collected data in ten individuals with confirmed KCNJ2 mutations have expanded the phenotype to include a characteristic facies and dental and skeletal anomalies [Yoon et al 2006a].
· Characteristic facies include broad forehead, short palpebral fissures, full nasal bridge with bulbous tip, hypoplasia of maxilla and mandible, thin upper lip, and a triangular shape.
· Dental findings include (among others) persistent primary dentition, multiple missing teeth (oligodontia), and dental crowding.
· Skeletal findings include mild syndactyly of toes 2 and 3 as well as fifth-digit clinodactyly.
· Novel findings include small hands and feet (<10th centile for age) and joint laxity.
Isolated reports of renal anomalies include unilateral hypoplastic kidney [Andelfinger et al 2002] and renal tubular defect [Davies et al 2005].
http://www.ncbi.nlm.nih.gov/books/NBK1264/

Dysmorphic Features:

May be very subtle, partial or seen in 'unaffected' family members
Skeletal:
· short stature (often);
· scoliosis

Hands/Feet:
· tapering fingers,
· clinodactyly (inward curvature/ 5th fingers);
· brachydactyly (unusually short fingers);
· syndactyly (webbing between fingers or between 2nd and 3rd toes)

 Facial:
· hypertelorism (widely spaced eyes);
· mandibular hypoplasia (small jaw);
· low-set ears;
· broad forehead;
· malar hypoplasia; (underdevelopment of cheekbones)
· broad nasal root;
· micrognathia (short jaw);
· prognathism (protruding jaw);
· ptosis; (an abnormally low position (drooping) of the upper eyelid)
· cleft palate, high arched palate

Definition of Terms for Symptoms:

· characteristic facies (characteristic appearance of the face in association with a disease or abnormality)
· brachydactyly (unusually short fingers)
· brachydactyly type D (clubbed thumbs) (characterized by a slightly shorter thumb that is round in section and larger at the end)
· clinodactyly (inward curvature/ 5th fingers);
· syndactyly (webbing between fingers or between 2nd and 3rd toes)
· small mandible (lower jaw in which the lower teeth reside and chin)
· hypoplasia of maxilla (small upper jaw)
· short palpebral fissures (short opening for the eyes between the eyelids)
· persistent primary dentition (still have some baby teeth)
· ocular hypertelorism (widely spaced eyes);
· scoliosis (curved spine)
· microcephaly (abnormal smallness of the head)
· delayed bone age (slowed degree of maturation of child's bones)
· joint laxity (looseness of the muscles and soft tissue surrounding a joint)
· broad nasal root (wide space between the inner corners of eyes)
· broad forehead (increased distance between the two sides of the forehead or top to bottom of forehead)
· malar hypoplasia (small cheekbones)
· micrognathia (short jaw);
· prognathism (protruding jaw)
· ptosis (an abnormally low position (drooping) of the upper eyelid)
· cleft palate (a congenital fissure in the roof of the mouth)
· high arched palate (roof of the mouth is high)

Facial Dysmorphology

Drawings are used to depict terminology and to illustrate certain aspects of facial variation.
http://www.peds.ufl.edu/divisions/genetics/teaching/facial_dysmorphology.htm

In most of the textbook or journal articles, Andersen-Tawil Syndrome is described as being so rare that only 100 cases have been diagnosed worldwide. This is incorrect. In a part of France alone, over 90 cases exist. 100 cases of ATS is a gross underestimation. Far more cases exist in varying forms.

 

Until later...