Genetic Testing in Neurodevelopmental Disorders

The following blog highlights the article, “Genetic Testing for Those with Neurodevelopmental Disorders”.  The reason I say ‘highlights’ is because the article contains a great deal of information that I won’t be addressing in this blog.  I would ask that you please read the article as it is extremely informative. 

The Diagnostic and Statistical Manual of Mental Disorders, 5th Edition (DSM-5), refers to Neurodevelopmental disorders (NDD) as group of conditions that present during a child’s early developmental period and are characterized by developmental deficits that may create challenges in the child’s personal, social, academic, or occupational functioning.  With a combined prevalence of approximately 17% of children ages 3-17 years old in the United States, NDD are the most prevalent chronic medical conditions encountered in pediatric primary care. 

NDD include intellectual disabilities (ID), global developmental delays (GDD), communication disorders (language disorder, speech sound disorder, childhood onset fluency disorders, and social/pragmatic communication disorder), autism spectrum disorders (ASD), attention deficit/hyperactivity disorder (ADHD), specific learning disorders (involving reading, written expression, and/or mathematics), and motor disorders (developmental coordination disorder, stereotypic movement disorder, and tic disorders).

Other conditions, outside of the DSM-5, are also considered as neurodevelopmemtal disorders.  These conditions include cerebral palsy (CP) and epilepsy, and neuropsychiatric disorders where there is strong clinical and biological evidence of developmental origins, such as schizophrenia.

As I mentioned, NDD are the most prevalent conditions encountered in the pediatric setting.  In fact, these disorders are considered to be common, and a significant proportion can be identified by genetic testing. In the last two decades, rapid advances in the development of genetic testing have revolutionized our ability to make specific genetic diagnoses in patients presenting with identification of neurodevelopmental disorders. New genes are being implicated in neurodevelopment at a rapid pace.

So, what do family members want to know?  The answer is that in addition to wanting to know their child’s clinical diagnosis and prognosis, they want to know the cause of their child’s developmental disability. With the development of genetic testing in identifying genetic causes for NDD, physicians can provide information on causes to families, along with a more accurate prognosis for their patients.  This identification can also be used to find, treat and possibly prevent medical comorbidities. 

At this time, genetic testing is considered the standard of care for children and adolescents with Intellectual Disabilities, Global Developmental Delays, and/or Autism Spectrum Disorders, and the future of testing will almost certainly be broadened to include other neurodevelopmental disorders. (Standard of care refers to the attention and care a patient should reasonably be provided.)

It is important that physicians and other medical personnel who provide healthcare to children and adolescents with neurodevelopmental disorders, gain an understanding of these common tests and their role in providing the best medical care for patients.  It is also important for these clinicians to support and facilitate genetic etiologic evaluations (genetic testing showing cause) for these patients by ordering genetic testing or partnering with genetic providers. Article cited:

To follow up, we think the main point from this article is that conditions which were once believed not to be genetic and/or caused by biological factors are now considered to be diseases with well defined genetic factors. We need to promote science so we can someday understand the genetic and epigenetic causes of serious mental health conditions well beyond schizophrenia and better understand how NDD could be related to mental health conditions. Please support our petition for a Moonshot for Mental Health so that we may have the much needed funding to continue this type of life changing research!


Mental Health Disease More Common Than You Might Think

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It seems that any time I speak with someone today about mental health disorders, there is a common theme.  In almost every conversation, each person reluctantly says that either they, a family member(s) or both, suffer or have suffered from a mental health disorder.  I usually bring up the topic because of my work with Cure Brain Disease.  After talking about our coalition’s work, they say something like, “Well …… I have (some type of mental health disorder) , and am on medication for it.”  Then they tell me about other members of their family who have struggled with a mental health disorder.  Some mention that a family member died by suicide.  Even though not all suicides are considered to be the result a mental health condition, many of those who have died by suicide were experiencing some type of mental health condition, such as major depressive disorder or  anxiety. 

The reason I mentioned that those I’ve spoken with ‘reluctantly’ admitted to having a mental health condition of their own, or that of a family member, is because this says to me that we still have so far to go in the area of stigma.  Despite the many celebrities speaking out about their own mental health struggles, there is still an enormous amount of stigma surrounding mental health disease.  This has to stop. 

According to The American Psychiatric Association, stigma and discrimination can contribute to worsening symptoms and reduced likelihood of getting treatment. A recent extensive review of research found that self-stigma leads to negative effects on recovery among people diagnosed with severe mental illnesses, including reduced hope.,reduced%20hope

Something else I notice in speaking with people about mental health are the number of times they mention that their family members also struggle with mental health disorders.  This speaks to the heritability of so many of the serious conditions which we view as brain diseases.

According to NIH, scientists have long recognized that many psychiatric disorders tend to run in families, suggesting potential genetic roots. Such disorders include autism, attention deficit hyperactivity disorder (ADHD), bipolar disorder, major depression and schizophrenia.,disorder%2C%20major%20depression%20and%20schizophrenia.

And according to NCBI, Generalized anxiety disorder (GAD) and major depressive disorder (MDD) are highly comorbid. A possible explanation is that they share four symptoms, according to the Diagnostic and Statistical Manual of Mental Disorders – Fourth Edition – Text Revision (DSM-IV-TR).

So now.  Let’s just think about all of this for a minute.  Almost everyone I come into contact with, when speaking of mental health, tells me they have, and at least one family member has a mental health disorder which they are taking medication for.  That’s a lot of people suffering from mental health disorders!

But remember, they are hesitant to mention this, meaning that there is still a great deal of stigma surrounding mental health conditions.  I find myself wondering, just how many people do have some type of mental health condition, and of those, how many suffer in silence due to stigma?

We must all stand up and do something about this.  Advocate for research.  Educate the children so mental health conditions will become a part of normalized conversations.  And break the stigma.  Talk about your mental health like you would about your physical health.  It’s way past the hour we do this. 

Also, please support our Moonshot for Mental Health petition to Congress, and share with as many people as you can!  Be well!

Research & Education Fight Stigma to End Crisis

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A while back, I blogged about where Science and Stigma must meet.  Now, I am adding where research and education must meet to fight stigma and end our mental health crisis.

In this blog, I will share some personal snapshots. I’ll begin by telling you what started me down this path in working with several others to create our advocacy group.

My son passed away while he was in graduate school studying to become a school psychologist. I have never known a kinder person in my entire life than my son, and I can say this regardless of the fact that I have had, and still have, the great honor of being called his mother.

I had no idea that school psychologists did anything other than test students to see if they had a learning or emotional disability, and then meet as a team to make plans for these students. I didn’t know they could specialize in a particular field.  Well, my son wanted to specialize in the areas of emotional challenges for children and suicide prevention for adolescents.  We found this out after he passed away.

If you can only imagine for an instant the impact of the loss of your child, you would know, without a doubt, that you would want to carry on their desire.  In this instance, it is a wonderful cause.  My son wanted to help young people who suffered with emotional difficulties.  So, of course, now I want to to do the same.

The only difference is that I originally wanted to go about helping in a different way. This way was by advocating for research into mental health conditions, so that we could find the root causes for disorders, develop curative therapies, and cut them off at the pass – so to speak.  In forming a coalition of like-minded individuals, I soon found out what an arduous task this would be.  We formed the ‘Cure Brain Disease Coalition’, and have been advocating for more funding for research in the area of serious mental health conditions, which we deem as Brain Diseases.

I am still focused on this task.  We must find the root causes in order to find curative therapies.

However, the question of education looms overhead.  It seems my son was onto something equally as important as advocating for research.  And this is educating our children.

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I remember as a young girl, in the late 1960’s, going through what I now know was a deep depression. I didn’t know what was happening with me, but I dreaded each day with an ominous feeling, and this increased as each morning wore into late afternoons.  Late in the afternoons were especially bad for me. I developed phobias, and my OCD increased with each passing day.  Of course, no one knew what OCD was at the time, nor had they heard of anorexia, which I developed at age 11.  The only thing that saved my diminishing body was that I was at an age where my parents still had a certain amount of control over me and forced me to eat. Later, we would learn of this eating disorder. 

Between my depression, my phobias, OCD, and anorexia, I can only remember thinking ‘how unusual’ I felt that I was. It seemed that no one else had “my issues”. I had no idea, at the time, that we had a history in my family of major depressive disorder and OCD. Not that it would have ‘cured’ me, but I believe that understanding there may be a genetic “predisposition” for my feelings, as well as knowing I wasn’t alone, would have helped me tremendously.

(Please understand that if you are ‘genetically predisposed’ to a condition, it does not mean you will automatically develop a disorder.)

So, this is where education comes into the picture. Many children and adolescents are going through mental health conditions, but they feel helpless, hopeless, and alone.  Why would they not reach out for help?  One reason is they may feel that they are abnormal, and are, therefore, ashamed of reaching out for help. Another reason is they do not realize they may have a ‘real’ medical disorder affecting their brains. This is because they have never been taught about these mental health conditions. So, they continue to suffer in silence. There are a host of reasons, but it all comes back to the central theme of lack of knowledge which feeds stigma.

My son wanted to help these children.  He wanted to help these adolescents.  Now, upon reflection of my own past, and because of his desire, so do I.  But how do we do it? 

The answer is pretty basic.  As I’ve mentioned in previous blogs, we must have a mental health curriculum, from Kindergarten – 12th grade which is mandated. Teach the children about the signs and symptoms of depression, OCD, anxiety, ADHD, addiction, bipolar disorder, schizophrenia and other serious mental disorders (on age appropriate levels) – just like we do with physical health diseases, such as diabetes, cancer, heart disease, kidney disease, cystic fibrosis, and the list goes on and on.

And in the meantime, tell our young people that there are, indeed, possible genetic links for many of these conditions. We can’t pretend that genetics don’t play a part. They don’t paint the whole picture, but certain genetic links predispose some to a mental disorder. And there is no blame or shame in this.

With more funding, we will continue our research into the causes, and will, hopefully, find cures in the not so distant future. You may ask, ‘But what about now?’ And the answer is that while we wait for research to catch up, there are many specialists who can, indeed, help.  The simple fact of knowing there might be a cause, and knowing you’re not alone is very empowering.  I know this would have helped me.

Please remember to sign our petition!

Why Physical Health Education, But Not Mental Health Education?

Before beginning this blog, I want to say a few things about our coalition’s work.  First, we are working very hard, advocating for far more funding for research into the biological causes for mental health diseases.  There have been many posts on studies to substantiate the roles of genetics and epigenetics in mental health (brain) diseases.  Please look back at the studies that we have blogged about as well as our petition. It’s gaining ground!

Now, I’m switching gears just a bit. In this blog I’ll be talking about the disturbing truth, that even in our schools, mental health is still not taken as seriously as physical health. Throughout the nation, state education systems have mandated that students learn about physical and nutritional health, but with the exception of beginning strides in only a few states, not about mental health.

Supportive programs have been added on social and emotional learning, but this is not the same as mandating mental health education to be a required part of the curriculum for elementary, middle, and high school students. Don’t get me wrong. I’m not suggesting for one moment that physical education is not important. It is very important. But so is mental health education!

Physical education class is required to help children understand about the value of nutrition and exercise. These classes teach about diseases, safe sex, and nutrition. But mental health education? In particular, discussions on mental health disorders? Not there. Is there any question why stigma still surrounds mental health disorders?

This mental health gap in curriculum has a potentially huge impact on society for generations to come, especially when considering that it is estimated that approximately one-fifth of children are experiencing a mental health condition at any given time.

Schools need to be portraying mental health as equally important and crucial as physical health. That starts with making mental health education a required part of education across all schools from kindergarten into high school. When you educate young people about mental health conditions, the conversation is normalized. In doing so, stigma is lifted. And when stigma is lifted, these young people are far more likely to reach out for help and no longer suffer in silence.

Please look at what California is doing in the area of education.  No states’ mandates for mental health education are perfect, but we believe that the following is a great first start. 

Please help us to help our children!

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Where Science and Stigma Must Meet

By now, those who follow us know we are advocating for more research into the biological causes for mental health conditions and suicide. I am now wanting to add a very important point to the conversation. This is that we must make a change in how we are talking to our young people about mental health.  I believe that if the public was made aware that there is in fact a genetic component involved in serious mental health conditions and suicide, this in and of itself, would remove much of the stigma surrounding these topics. 

All major psychiatric disorders have a familial and heritable component. Twin studies have documented significant heritability across the spectrum of psychopathology, with estimates ranging from 20% to 45% for anxiety disorders, obsessive-compulsive disorder, post traumatic stress disorder, and major depressive disorder; from 50% to 60% for alcohol dependence and anorexia nervosa; and from 75% upward for autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), schizophrenia, and bipolar disorder.

Suicide and non-fatal suicide attempts have substantial genetic etiology, which is partially shared and partially distinct from that of related psychiatric disorders.

Of course, genetics isn’t the only factor. However, in many cases, it does account for the predisposition to serious mental health disorders and suicide.  Maybe, young people would be more open to reaching out for help if they knew, based on these statistics, that their conditions quite possibly have a biological basis, a “scientific” foundation.  As it stands, far too many still suffer in silence due to the stigma of (pardon me for the very stigmatized phrase),  ’It’s all in your head’

Do researchers have all of the answers to the causes of these genetic predispositions, and better yet, effective treatments and curative therapies?  No, sadly, not yet.  What we need is far more research and far more funding for this research.  

However, while we wait for science to catch up, we need to take advantage of the help we do have at this time, and that is in working with qualified mental health professionals. Our young people will know that there is a ‘scientific’ reason behind their mental health conditions, and that these conditions are ‘real’, all the while learning valuable coping strategies. I believe people (of all ages) will feel more comfortable in taking that first step forward to reach out for help if they feel they have a real biological condition, and not just something that’s ‘all in your head’, so to speak.

So what am I saying?  We must advocate for biological and genetic research, and we must reduce mental health stigma.  

But, which comes first???

That’s a good question.  I think both need to work simultaneously.  In order to reduce stigma, we must have far more research into the biological causes for these brain diseases.  On the other hand, in order to gain support for research into the biological causes, we must reduce the stigma surrounding them.  Each goes hand in hand. 

We all need to work together – scientists, educators, parents, community leaders, and Congress.  We must all come together to end our mental health crisis!  This is not only for today, but for generations to come. Please join us.

“Moonshot for Mental Health!”

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“A Simple, but Life Changing Request” – Please Sign!

Hello to everyone who is concerned about our mental health crisis, and who wants to truly be a part of making a change. The following is a very simple request!

I’m attaching a link (directly below the blog) where you may sign a petition. This petition will go to the Appropriations Committee, requesting for more funding for research into the biological causes for mental health disease. I ask that you please sign this petition so we will have a strong, united voice. If you sign, and I hope you do, please do not donate any money. That is not what this is about. This is about coming together as a united voice for a real ‘Moonshot for Mental Health’. United, we can make a difference. Thank you!!!

Change The Forecast for 2030!

By the year 2030, ‘Depression’ is Projected to Be The Biggest Burden on Health in the World!

*** Note: Please make sure to click on the link at the bottom of this blog to see how you can help! ***

According to the World Health Organization (WHO), depression will be the single biggest burden on health in the world by 2030.  People with depression normally have several of the following: a loss of energy; a change in appetite; sleeping more or less; anxiety; reduced concentration; indecisiveness; restlessness; feelings of worthlessness, guilt, or hopelessness; and thoughts of self-harm or suicide. 

WHO has identified that depression has strong links to other disorders and diseases such as diabetes, heart disease, and raises the risk for substance abuse. Depression is also an important risk factor for suicide, which claims hundreds of thousands of lives a year. More than 800,000 people die by suicide a year. It is the leading cause of death in the 15 -19 year-old age group, and the second leading cause of death in the 20-34 year-old age group.

On December 7th, U.S. Surgeon General Dr. Vivek Murthy issued a new Surgeon General’s Advisory to highlight the urgent need to address the nation’s youth mental health crisis. Before the COVID-19 pandemic, mental health challenges were the leading cause of disability and poor life outcomes in young people, with up to 1 in 5 children ages 3 to 17 in the U.S. having a mental, emotional, developmental, or behavioral disorder. Additionally, from 2009 to 2019, the number of high school students who reported persistent feelings of sadness or hopelessness increased by 40%, to more than 1 in 3 students. Suicidal behaviors among high school students also increased during the decade preceding COVID, with 19% seriously considering attempting suicide, a 36% increase from 2009 to 2019, and about 16% having made a suicide plan in the prior year, a 44% increase from 2009 to 2019. Between 2007 and 2018, suicide rates among youth ages 10-24 in the U.S. increased by 57%, – PDF and early estimates show more than 6,600 suicide deaths – PDF among this age group in 2020. The pandemic added to the pre-existing challenges that America’s youth faced. This Fall, a coalition of the nation’s leading experts in pediatric health declared a national emergency.

What Can We Do to Help?

With this information, you might ask, “What can I do?”  The good news is that you can actually do a great deal. The answer is to let your legislators know we must have a “Moonshot for Mental Health”, just like we did for cancer research 50 years ago! We need far more funding for mental health research so that we can get to the biological root causes of mental health diseases. In this way, we can develop new effective treatments and cures with the aim of treating people who are predisposed to mental health conditions early on so that these conditions don’t advance to serious levels. Just think of the advances we’ve made with cancer. Can’t we do the same with the most important organ in our body, our brain?

Funding for mental health research is far below funding for other conditions. This must change.

We CAN make a difference.  In fact, WE are the only ones who can.  Let’s change the forecast for 2030. “Moonshot for Mental Health!”

**** Please take a few minutes to write to your legislators.  If you wish, a sample letter is provided for your use, as well as contact information for your state legislators.  Please click on the following link for the letter and contact information for your legislators. ****

Thank you!

Please click this link.

New Study Linking Genes to Mental Health Disorders

We now have a new piece in the puzzle linking genes to a range of mental health disorders:

New research shows our genes influence the way our brains are ‘wired up’ in childhood making us more vulnerable to a range of mental health conditions in later life.

Scientists have long recognised that genes are a significant factor in most mental illnesses. But the mechanisms at play remain largely mysterious.

However, research from the NIHR Oxford Health Biomedical Research Centre (BRC) sheds new light on the link between genetics and mental health. A new study has revealed a common pattern of connections in the brains of people whose genes predispose them to mental health problems.

The findings show that brains ‘wired up’ in this way are associated with not just one but a whole range of mental health conditions – a list including schizophrenia, autism, depression, anxiety, and bipolar disorder.

Dubbed a ‘vulnerability network’, this pattern of connections may help us to understand why different mental health conditions seem to run in the same families and explain what makes a patient with one psychiatric disorder more likely to be diagnosed with another.

Psychiatric illnesses tend to have a lot in common and many share symptoms and genetic risk factors. The discovery of the ‘vulnerability network’ is another piece in the puzzle of how they relate to one another.  Dr Max Taquet who has lead the research explains ‘what’s really exciting about this research is that it gives us a better understanding of the way mental health conditions emerge’.

The research team studied the brain scans of a group of nearly 700 healthy children. By using data from a young and healthy population they aimed to limit the impact on their findings from pre-existing illness or treatment and from environmental factors.

They went on to show that, as well as predisposing people to a number of mental health disorders, the same vulnerability network is associated with behaviours that make people more vulnerable to mental health problems, such as  marijuana and alcohol misuse and impulsive behaviour.

Looking to the future, Dr Taquet is optimistic about the study’s implications for patients “we hope that this discovery holds the potential to inform the development of better interventions to treat and prevent psychiatric disorders.”

The research published in Molecular Psychiatry is available here 

Published: 6 May 2020



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What’s Going On In My Mind and Body?

Have you ever experienced an unexplained, life-altering, mystery condition that didn’t go away in spite of searching for answers from numerous physicians and specialists? Did it remain a mystery that became more than a mere inconvenience? So much so that it became a debilitating or life-threatening condition? If so, you are not alone. These are sometimes known as “medically unexplained symptoms” when they last for more than a few weeks, but doctors can’t find a problem with the body that may be the cause. Not understanding the cause can make them even more distressing and difficult to cope with.

Now, let’s look at mental health conditions in the same context as these “medically unexplained symptoms”. I would like to give you an example of a “possible scenario” for someone who is experiencing a mental health disorder.

You may find yourself suddenly becoming forgetful, unable to produce simple words, you may become anxious, paranoid, and deeply depressed, and you may have embarrassing physical symptoms such as sudden jerking movements in your body. People laugh at you, and you are humiliated. You spend years trying to figure out what’s actually going on and how to cure this mystery disease of the mind. However, there is no cure because you are told that at this time, there is no definitive diagnosable disease, and your symptoms are, just ‘all in your head’. The advice you are given? “Go home, eat well, get plenty of exercise, plenty of rest, and think positive thoughts”.

The scenario continues, and by now, due to the supposed ‘all in your head’ symptoms, you may find that you need to look for other employment or go on permanent disability. Finally, you begin to isolate yourself, friendships begin to fade, and you think it would just be better if you weren’t here at all. After all, you feel that you are indeed a misfit, and that the whole world is continuing on in its normal way, only without you.

I’ve just described to you the types of struggles that many people with mental conditions go through. Due to lack of knowledge, as well as stigma, many begin to feel hopeless.

You may say, “Oh, but we’ve come a long way in the way we look at mental illness.” But have we? Would you be willing to tell a group of people or a prospective boss that you have a mental disorder? Better yet, someone you were romantically interested in? Would you?

I was having a conversation with a friend of mine today about the possibility of speaking to a group about the role genetics plays in mental health conditions. I feel it helps to de-stigmatize mental health conditions when one understands the biological components behind these mystery diseases. I firmly feel that when someone knows that there is a real scientific basis for our mental health conditions, and that we are searching for cures, it will ease their minds. The reasons? One, they won’t feel completely alone. Two, there is hope. And three, for the first time in their lives, they might actually feel like they can breathe. There is a scientific reason, there is hope, and they are not alone. This is very powerful information.

I’m not going to pretend that we have all of the answers as of yet. We are far from it. But we are finally looking in the right direction; and that is in our genetic make-up, in our brain chemistry, and in our environment.

There is much evidence from recent studies that genetics and epigenetics contribute to many mental health disorders – and in some disorders, to a great degree. However, we still have a long way to go in discovering the complex interplay between genetic predisposition, environment, and situational factors.

While we wait for scientific research to give us more definitive answers, let’s help our children, young adults, and those of all ages know that what many are going through is real (not just in their heads), and that each day, we are learning more and more about the biological causes of mental health conditions. Let’s let those who suffer know that they are not alone. Let’ s let them know there is hope.

Bipartisan Legislation to Help Diagnose and Treat Genetic Disorders Like Cancer and RARE Diseases, Particularly in Children

Here is some very good news:

Today, Representatives Eric Swalwell (D-CA), Scott Peters (D-CA), and Tom Emmer (R-MN) introduced bipartisan legislation to better diagnose and treat genetic disorders like cancer and rare diseases, particularly in children. This legislation was included in Representatives DeGette and Upton’s CURES 2.0, legislation that was introduced today, which would improve how drug treatments and therapies are delivered to patients. Bipartisan legislation will help diagnose and treat genetic disorders like cancer and RARE diseases, particularly in children. This is extremely good news being that nearly 80% of rare diseases are genetic and 70% begin in childhood. 

“This much-needed legislation will help provide hope and relief to millions of children living with a mysterious and rare disease,” said Rep. Eric Swalwell.”

Although a significant number of rare diseases are genetic, they have a varied etiology:  infectious, autoimmune, nutritional, and environmental diseases and cancers. Regardless of etiology, living with a rare disease can have a detrimental effect on mental well-being. While this could be said of any disease or chronic condition, the mental impact can be amplified in the case of rare diseases. Anxiety, stress, low mood, emotional exhaustion, and suicidal thoughts, have all been identified in the rare disease population.

“Genetic and genomic testing technology is improving every day, and this bill provides a critical step forward for making these tests more accessible to pediatric patients.”“Genetic and genomic testing options are the future of medicine. Offering this service will help us understand the individual needs of patients and ensure we can provide answers for millions of families with children struggling with unknown illnesses. Making these tests more accessible will save lives, revolutionize our health care industry, and ease the burden on our system through prevention instead of treatment,” said Rep. Tom Emmer.