The Face of Mental Illness

girl-in-shadows-istockI love working in a psychiatric hospital because it’s rarely boring. The type of people who come through the door are everyday people, no different from you or me, it’s just that what they are dealing with at the time is more than they or most likely any of us can handle.

I remember when I first started working here, a senior co-worker said that the only thing separating us from the patients is that we have the keys that let us in and out.

That’s one reason customer service, even in a mental hospital is so important. We strive on treating everyone, no matter what their circumstances or mental state, fairly and therapeutically because you never know when we or one of our family members or friends will end up in a place like this and it’s fairly easy.

Say the “magic words” to the right person and you may find yourself involuntarily hospitalized. Have an over exaggerated emotional or behavioral reaction and you may end up placed in a mental hospital to help you calm down.

Since I’ve been here I’ve seen correction officers, police officers, teachers, college students, professional athletes, lawyers, daughters of politicians, doctors, nurses and business owners come through our doors under involuntary hospitalization statuses.

People are placed here everyday who feel like they shouldn’t be and some may very well not be, but the majority at least need a cool down period.

For example, last week a college student got into a fight with his girlfriend and someone reported he threatened to kill himself. He denied does accusations, but he was emotionally upset enough that law enforcement thought it was best that he was brought here for his safety and the safety of those around him.

Now that he was here he didn’t want to be here and wanted to leave. He kept trying to convince me and everyone that he didn’t need to be here, but in doing so, he was getting more and more upset and therefore appearing more and more like he needed to be here for his safety and those around him.

I kept trying to talk to him and tell him that if he truly didn’t think he should be hospitalized then he needed to be calm and relaxed, otherwise he was risking looking like every other patient in the hospital who truly needed to be there.

However, he was so agitated and insistent on leaving that we had to place him on an elopement risk which lessened the chance of him being released sooner than he would have been otherwise.

When people think of the patients in a mental hospital, they almost automatically get an image in their head as if mental illness has a face. Those of us who work in the field or know someone or are ourselves suffering from a mental illness know that this couldn’t be further from the truth.

This morning I spoke with the mother of one of our patients who just graduated with an advanced degree and has an extremely high IQ, but has a long history of bipolar disorder and hasn’t been on her medication in over a year.

This is a beautiful young lady who was found sitting outside naked, stating that her old self had died and given birth to her new self with a new name she was calling herself by and a new age. She also believed she had God like powers.

Here at the hospital, for the most part, this young lady was selectively mute and at times appeared catatonic. We even had to carry and pose her limp body at one point when we had to transport her to another part of our facility.

She was definitely in need of some medication to help her start getting back to her “normal” self.

I was really hoping to speak with her, I throughly enjoy talking to people who both have a long history of mental illness and the ability and awareness to really talk about it and analyze their experiences, but she wasn’t speaking to anyone, so I spoke with her mother for a while about her history of treatment and tried to help calm her mother’s fears about her daughter’s recent deterioration.

This young lady reminds me that mental illness is all around us and it’s nothing to be ashamed of or to run from. Sometimes it’s in your face like the guy talking to himself while begging for change or it’s wrapped in the package of a pretty grad school graduate who on most days could hold the most intellectual conversations, but today she’s just staring into out of space unresponsive to the world around her.

 

Childhood PTSD AND Trauma: Part 1

BW portrait of sad crying little boy covers his face with handsImagine a four-year-old child found covered in blood, lying over her mother’s naked, dead body, whimpering incoherently. She’s witnessed her mother being raped and murdered, and her own throat had been cut, twice in an attempt to leave behind no witnesses. She’s alone with her mother for approximately eleven hours before she is discovered.

After being hospitalized she is released as a ward of the state and put into foster care with no follow up treatment for the trauma she experienced.

How will she go on through life with those images etched in her mind? How will she survive psychologically? How will her mind protect her from such traumatic experiences?

This story is unfortunately a very true story, one of several stories of childhood trauma that can be found in the book, The Boy Who Was Raised As A Dog by Bruce Perry and Maia Szalavaitz.

Tragedies like this occur across our nation and the world everyday, leaving behind sometimes physical, but always emotional and psychological scars.

Post Traumatic Stress Disorder is a condition that 30 or so years ago was reserved only for soldiers who had experienced traumatic events at war. It was later recognized that rape survivors, people who had been through terrible accidents or natural disaster, also exhibited symptoms of PTSD including flashback, hyper-vigilance and avoidance behaviors.

When it came to children however, the mental health and medical fields were slow to realize the impact of trauma on their lives.

Children were thought to be naturally resilient and would “bounce back” without the aid of any type of support or treatment. Those same children who had experienced trauma would often later develop psychiatric problems, depression and attention issues that would sometimes led to medication.

We know  now that children who have live through tragedies, are just as affected as adults, perhaps even more so. This is evident in the great way the mental health community around the nation responded to the Sandy Hook Elementary School tragedy.

What Causes PTSD?

PTSD can occur in anyone who has lived through an event in which they could have been killed or severely hurt or where they witnessed someone else getting killed or severely hurt. These can include violent crimes, physical or sexual abuse, someone close to them committing suicide, car crashes, shootings, war and natural disasters just to name a few.

Approximately 40% of children by the age of 18 will experience a traumatic event, which includes the loss of a parent or sibling and domestic violence. In the United States, child protective services receives an estimated 3 million reports of abuse and neglect yearly, involving approximately 5.5 million kids. About 30% of all those cases show proof of abuse:

  • 65% neglect
  • 18% physical abuse
  • 10% sexual abuse
  • 7% psychological (mental) abuse

This of course doesn’t include the estimate 66% of child abuse cases that are never reported.

The Likely Hood Of PTSD Developing

Girls are more likely than boys to develop PTSD symptoms. Approximately 3-15% of girls and 1-6% of boys who experience a trauma will develop PTSD. The chances of developing PTSD are higher depending on the type of trauma experienced. Some of the risk factors for PTSD include:

  • How severe the trauma was
  • How the parents react to the trauma
  • How close or far away that child is from the trauma

Of course children who go through the most severe traumas have the highest level and severity of PTSD symptoms. Incidents where people are hurting other people such as assault and rape, tend to result in PTSD more frequently. Children who have healthy support systems tend to have less severe symptoms.

The age of the child during the traumatic experience doesn’t seem to effect rather PTSD symptoms will develop, however PTSD looks different in children of different ages.

What Does PTSD Look Like In Children Ages 5-12?

  • children may not have flashbacks or problems remembering parts of the trauma like adults with PTSD often do.
  • Children might, however put the events of the trauma in the wrong order.
  • They might also think there were signs that the trauma was going to happen and thus they think that they will see these signs again before another trauma happens.
  • They think that if they pay attention, they can avoid future traumas which can lead to hyper-vigilance.

Children around this age may also show signs of PTSD during their play. They may keep reenacting part of the trauma. For instance, a child who has seen a shooting may want to play video games involving shootings or carry a gun to school.

Teens (ages 12-18)

In teens, some of the PTSD symptoms may be similar to those of adults including flashbacks, reoccurring nightmares about the event, hyper-vigilance and exaggerated startle responses. Teens are more likely than children or adults to show aggressive and impulsive behavior.

What are the other effects of trauma on children?

Other effects of trauma on children from PTSD comes from research done with children who have been through sexual abuse. They include:

  • fear
  • worry
  • sadness
  • anger
  • feeling alone and apart from others
  • feeling as if people are looking down on them
  • low self-worth
  • not being able to trust others
  • undesired behaviors such as aggression, out-of-place sexual behavior, self-harm, and abuse of drugs or alcohol

For many children, PTSD symptoms go away on their own after a few months. Yet some children show symptoms for years and possibly a lifetime  if they do not get treatment.

How Is PTSD Treated In Children?

For some children, the symptoms of PTSD will go away on their own with healthy supports and when they aren’t being re-traumatized by anxious parents or the media. For others, they may need professional help including:

  • Cognitive-Behavioral Therapy such as Trauma-Focused Cognitive Behavioral Therapy
  • Psychological first aid/crisis management
  • Eye movement desensitization and reprocessing (EMDR)
  • Play therapy
  • Special treatments may be necessary for children who show out-of-place sexual behaviors, extreme behavior problems, or problems with drugs or alcohol.

What Can You Do To Help?

Educated yourself on PTSD and pay attention to your child for signs such as anger, avoidance of certain places and people, problems with friends, academic changes and sleep problems. If you need professional help, find a therapist in your area that treats PTSD and that your child feels comfortable with.  Where to Get Help .

 

Sources: The National Center for PTSD

Combating Depression: 10 Tips

depressionistockDepression affects about 17. 5 million Americans and out of those, an estimated 9.2 million will have what is considered major or clinical depression.

What’s the difference between depression and major depression?

Major depression is categorized as:

  1. a depressed mood, most of the day, nearly everyday for at least two weeks. In children, adolescence and some adults, depression may present as irritation or anger.
  2. Marked diminished interest in or pleasure in all, or nearly all activities most of the day, nearly everyday.
  3. Significant weight loss (when not dieting), decrease in appetite, or significant weight gain or appetite nearly everyday.
  4. Insomnia or hypersomnia nearly everyday.
  5. Psychomotor agitation or retardation (i.e. moving extremely slow or faster than normal) nearly everyday.
  6. Fatigue or loss of energy nearly everyday.
  7. Feelings or worthlessness or excessive or inappropriate guilt nearly everyday.
  8. Decreased ability to think or concentrate, or indecisiveness nearly everyday.
  9. Recurrent thoughts  of death, suicidal thoughts with or without a plan or a suicide attempt.

A person doesn’t have to have all of these symptoms to be diagnosed as having major depression, but they have to have the majority of these symptoms for at least two weeks and they can’t be accounted for something else, such as bereavement (i.e., losing someone close to them recently).

Depression has been given a bad name and so many people who feel depressed don’t like to admit to it and may not seek help or even the comfort of a friend when they are feeling depressed. The thing about depression in general is that it is not always a bad thing.As a matter of fact, very often, depression is your minds way of telling you that something in your life is not going the way you want it to go.

Instead of ignoring that feeling or trying to make it go away immediately, it may be a good time to sit with it and evaluate your life and see what is it that is not going the way you want it to go, and if you can change it, then change it, if you can’t, then try to change the way you think about it.

More often then not, this is what depression is and it is possible for a person who is in tune with themselves, to take this self-evaluation, correct the problem(s) and eliminate their symptoms. Other times, a depressed person may need the help of a professional to help them analyze what’s going wrong in their lives and help them learn how to deal with it. And yet, still there are times when medication is needed due to chemical imbalances or if a person gets to the point where they are so depressed that they don’t have the capacity to be introspective.

While most of us have or will experience depression at least once in our lifetimes, major depression can be a very dark and dangerous place. The Center for Disease Control has intentional suicide as the number ten cause of death in the United States last year, killing an estimated 38, 364 people.

10 Tips To Fighting Depression

**First off… if you or someone you know is suicidal, don’t be afraid to call 911 or 1-800-suicide for immediate help**

  • Opposite Actions is a technique from Dialectical Behavior Therapy that basically says, do the opposite of what the depression is telling you to do. If you feel like staying in bed all day, get up and do something. If you feel like blowing off your friends, don’t, call them and force yourself to be out with them.  One of the things about depression is that it is a self-feeding disease. It zaps a persons motivation, makes them want to isolate themselves and stop doing things like going to the gym, all of which end up making the person feel more depressed.
  • Set an alarm that will help you wake up, that will remind you to eat, or to do whatever it is you need to do.
  • Take care of yourself by getting out of your bed, making it, and taking a shower. Letting yourself go is one of the hallmarks of being depressed and will make it easier for you to start avoiding other people.
  • Go outside for at least ten minutes a day. It doesn’t matter where you go, or if you don’t go anywhere. Going outside, getting some fresh air, some sun even, can do natural miracles when battling depression.
  • Exercise. You won’t feel like it, but it will be good for you and will get your blood flowing and your endorphin and dopamine (natural feel good hormones) going.
  • Make a list of activities to do, hopefully some will involve other people.
  • Keep a schedule, that way you can stay on track during the days you don’t feel like doing anything.
  • Make a daily necessity schedule if needed that reminds you when to eat, take  a bath, brush your teeth, etc. Yes, in the middle of severe depression, it’s easy to neglect all these things.
  • Visit people like healthy family and friends. Once again, you will feel like isolating yourself, but having good family and friends around will help pull you out of the fog.
  • Last, but not least, if all self-help fails, do not be afraid to see your doctor or a psychotherapist.  80% of people with major depression who received treatment had significant improvements.

Depression will affect us or someone we know to some degree, and it’s always good to have some idea of what you’re dealing with and how to begin fighting it.

The Most Commonly Diagnosed Mental Disorders

We are bombarded all the time with the depressing number of people diagnosed with illnesses such as cancer and heart disease, but did you know that mental illness is even more prevalent?

Like cancer and heart disease, mental illness is a medical condition that does not discriminate by age, sex, race/ethnicity or socioeconomic status.

Mental disorders often strike people when they less expect it, when they are in the prime of their lives and are often associated with other high risk behaviors such as gambling and substance abuse.

Like any other illness, they also vary in degree from mild, moderate and severe. In developed countries, these are the top 10 diagnosed mental disorders:

10. Autism Spectrum Disorders (Pervasive Developmental Disorders)

I’ve written a previous post on pervasive developmental disorders. They start when children are very young and are often difficult to diagnose. As a matter of fact, I know a parent who has just acknowledged (after much denial) that  her 17 year old son has Asperger’s, something he should have been tested for and began treatment for years ago.

9. Schizophrenia

To me, schizophrenia is one of the most interesting mental illnesses. I used to enjoy working with schizophrenic patients when I worked in the mental hospital, although I did feel very bad for them.

Imagine being tormented by voices telling you bad things about yourself, thoughts that someone is trying to poison you, or seeing visions of dead bodies everywhere. That’s just some of the things people with schizophrenia I’ve worked with were tortured by.

To be diagnosed with schizophrenia, a person has to have two or more of the following:

  • Delusions
  • Hallucinations
  • Disorganized speech
  • Disorganized or catatonic behavior
  • Emotional flatness

Contrary to popular believes, most people with schizophrenia are harmless.

8. Bipolar Disorder

Most people with bipolar disorder are diagnosed by age 25, although different things can bring out underlying bipolar symptoms, such as pregnancy.

“Bipolar” is a term loosely used these days, usually to describe someone who seems to have mood swings, although in most cases, people with bipolar disorder don’t change their moods from moment to moment, and if you ever get to meet someone with severe bipolar disorder and they are not on their medication, you will know it and probably never forget it.

I’ve seen grown men swinging from trees and women drop from exhaustion after running ragged for four days straight, partying, sleeping with half a dozen men and charging thousands of dollars on credit cards they can’t afford.

7. Panic Disorder

Sweating, rapid heart beat, nausea, shortness of breath, dizziness, fear, loss of control, chest pains, tingling, smothering sensation, these are all symptoms of panic disorder.

Panic disorder and panic attacks are common, and can be triggered by certain events such as riding in an elevator, being in a crowd, having to give a speech or being in a place where there is no easy escape (agoraphobia).

1 out of 3 people with agoraphobia become housebound and are basically held hostage in their own homes by their illness.

6. Anxiety Disorders

Anxiety disorders include obsessive compulsive disorder (OCD), post traumatic stress disorder (PTSD), and generalized anxiety disorder (GAD).

OCD is a combination of reoccurring thoughts (obsessions) and actions (compulsions) that a person performs because they believe it gives them control. For instance, a person may believe they have to take 50 baths a day or they aren’t clean and they may lose their job, friends and family to this behavior.

PTSD occurs after a person experiences a terrifying even in which they face great bodily harm, death, fear or helplessness. They may then have reoccurring thoughts, nightmares, heighten fear and avoidance behaviors. Many rape victims and soldiers coming back from war experience PTSD, but so do people who have been robbed, beaten or in a car accident.

GAD is basically when someone has anxiety, stress and worry for at least 6 months period for no specific reason. Some of these people are considered “worry worts” in layman terms, but their anxiety can cause them to have a host of physical systems and a decreased quality of life.

5. Phobias

Phobias are related to anxiety disorders and there is almost a phobia for everything although social phobia is one of the more common phobias.

In social phobia, everyday situations causes the person to become self-conscious and nervous, often leading to physical responses such as sweating which then causes the person to become even more self-conscious and nervous.

Children with social phobia often go through great lengths to avoid going to school and once at school may either be super anti-social or go to extremes to avoid other students by skipping, or staying in the clinic and feigning and illness.

A person can pretty much have a phobia of anything. Check out http://www.phobalist.com

4. Attention Deficit/Hyper Activity Disorder

This is another one I’ve written about previously. ADHD is very common and most children learn to manage their illness or outgrow it altogether, but some will have ADHD throughout their adult life.

3. Eating Disorders

Anorexia nervosa,  bulimia nervosa and binge-eating are common illnesses, usually affecting females.

People suffering from anorexia, when a person looks in the mirror, no matter how thin they are, all they see is a fat person. They then go through great lengths to restrict their food and burn calories until often they are on the verge of starving themselves to death, and sadly many do just that.

People suffering from bulimia are often of normal body weight, but binge on large quantities of food, then feel guilty about it and then may try to vomit it back up, exercise obsessively, or use laxatives to try to get rid of the food and calories.

People who suffer from binge-eating are caught in a vicious cycle of over-eating, feeling guilty about the over-eating, and then over-eating to try to self-soothe themselves, which all of course leads to weight gain and shame.

2. Personality Disorders

All humans have personality traits, most which are relatively fluid, based on our culture, upbringing and experiences. Many of us even have some traits of personality disorders, but people with true personality disorders have traits that are so rigid that they impair their ability to function and get along with people in their everyday life.

Some of the most common personality disorders diagnosed include:

  • Antisocial personality disorder– these people don’t follow rules of society, often care little about other people unless they can use them for their own gain, they can’t empathize or feel sorry for people, they generally show no remorse. They often have criminal behavior.
  • Avoidant personality disorder– these people are anxious, usually over-controlled and fear criticism, making them hesitant to become involved with other people. There for, they tend to avoid people as much as possible.
  • Borderline personality disorder– these people are generally impulsive, unstable, suicidal at times, fear abandonment while at the same time they tend to push people away from them, resulting in tense, unstable relationships.

1. Mood Disorders

Mood disorders are the number one most diagnosed mental illness in developing countries and something that nearly everyone can relate to in one form or another.

Mood disorders are sustained emotions that go beyond the usual, normal feelings of sadness, to deeper feelings such as dysthymic disorder and major depression.

One Mother’s Experience with Bipolar Disorder and the Importance of Support Groups for Caregivers

The other day I was fortunate to have the opportunity to speak with a former client’s mother about her experiences dealing with her now 19 year old daughter, who was diagnosed with bipolar disorder at the age of 8.

This girl from what I knew of her was extremely unstable, as could be expected from a teenager suffering from bipolar disorder.

Unlike other people suffering from bipolar disorder, teenage girls tend to be even more fickle when you factor in the normal hormones of teenagers as well as social pressures that make even some non-bipolar teens act and feel erratic.

This girl was prone to bouts of depression, mania, impulsivity and explosive anger.

At home her mom had done everything she was supposed to do to support her child including psychotherapy, family therapy and medication, but her daughter was still a hand-full.

When she was in her manic states she tended to have anger directed towards her mother and would at times try to get physical with her and had to be hospitalized several times for suicidal/homicidal ideations.

Her mother tried all she could to pacify her daughter, including painting her room the pretty purple she wanted, only to come home one day and find nearlyevery inch of that wall covered in permanent marker with words directed towards her mother such as “bitch”, “whore” and “I hope you die”.

On top of that she was extremely needy, wanting to be up under her mom 24/7 to the point that she got angry whenever her mom left her and would tear up the house or refuse to go to school.

When she was depressed she would self-mutilate and attempt to kill herself. Her mother would be afraid to leave her alone.

“My biggest fear, even today, is that I will come home and find her dead”, the mother told me.

The biggest thing this mother did that made the most difference was getting educating herself on her daughter’s illness and counseling for herself and joining a support group.

Support groups are invaluable resources that often aren’t utilized enough by those living with or taking care of people with mental illnesses or substance issues.

Through counseling and the support group she learned that she was not alone, that many other parents were on the same roller coaster ride she was on.

She also learned how to change the way she had been dealing with her daughter.

If what you are doing isn’t getting you the results you desire, you have to try something different.

She started accepting that her daughter was going to have good days and bad days, and sometimes within the same day. She also had to understand her role and limitations as the mother of a child with bipolar disorder.

She had to accept that some days she might feel like giving up, or not care when her daughter threatens to hang herself, and that doesn’t make her a bad mother, but it is a sign that she needs to take a break, regroup and seek support herself.

At the end of our reunion I was happy to see that a mother, who just a couple of years ago who was so flustered, angry and exhausted, had turned into a woman not only surviving, but thriving with a daughter suffering from bipolar disorder.

Her and her daughter are doing better, but they are still taking it one day at a time.

On Childhood Disintegrative Disorder


We conclude our discussion on the Pervasive Developmental Disorders with a brief overview of Childhood Disintegrative Disorder.

Introduction

Childhood Disintegrative Disorder (CDD), is also known as Heller’s Syndrome and Disintegrative Pschosis.  It is a rare Pervasive Developmental Disorder that affects about 1 in 100,000 children. CDD resembles many of the other disorders on the Autism spectrum in the fact that it involves developmental delays, impairment in communication and social functioning, but most closely resembles Rett syndrome in that it almost exclusively affects boys whereas Rett syndrome almost exclusively affects girls. New research suggest that while CDD affects boys more than girls at a rate of 4 to 1, it is thought that girls diagnosed with CDD most likely should have been diagnosed with Rett. There is also further talk that in the future Rett and possibly even CDD won’t be separate diagnosis, but that they will both be collapsed into the Autistic category as low functioning forms of Autism.

Symptoms

Children with CDD develop normally up until about ages 2 to 4 years of age (rarely there are cases of delayed onset up to 10 years of age), and then start regressing, losing previously acquired developmental skills with in a few months to years, including language, non-verbal communication skills, motor skills and social skills.

Symptoms include:

    • Delay or lack of spoken language
    • Impairment in nonverbal behaviors
    • Inability to start or maintain a conversation
    • Lack of play
    • Loss of bowel and bladder control
    • Loss of language or communication skills
    • Loss of motor skills
    • Loss of social skills
    • Problems forming relationships with other children and family members

Causes

There are no known causes of CDD although abnormal electroencephalograms (EEG), epilepsy, Lipid storage diseases (excess build up of toxic fats in the brain and nervous system), Tuberous sclerosis (benign tumors that may grow in the brain and other vital organs) and Subacute sclerosing panencephalitis (chronic infection of the brain due to a form of the measles that damage the brain) all appear to be associated with CDD.

Treatment

There is no cure for Childhood Disintegrative Disorder and the treatment for it is similar to the treatment for all of the Pervasive Developmental Disorders with the addition of trials with steroid medications to try to slow down the progress of the disorder.

Diagnosis

Physicians will use some of the same assessment tools used to diagnose the other Pervasive Developmental disorders with the inclusion of all the symptoms listed above and impairment in normal function or impairment in at least two of the following three areas:

  • Social interaction
  • Communication
  • Repetitive behavior & interest patterns

The main symptoms to look for in diagnosing CDD is the loss of previous learned skills in at least two of these areas:

  • Expressive language skills (being able to produce speech and communicate a message)
  • Receptive language skills (comprehension of language – listening and understanding what is communicated)
  • Social skills & self-care skills
  • Control over bowel and bladder
  • Play skills
  • Motor skills

If your child has any developmental delays or starts to lose developmental functions previously learned, it is vital to talk with your physician in order to rule out  CDD or any of the Pervasive Developmental Disorders or mental retardation. The faster any illness is discovered and treatment begins, even if there is no cure, the better the prognosis or at least the slowing of the progress of the disorder. Some children with similar, yet less severe symptoms may have a learning disability or something much less serious than a Pervasive Developmental Disorder, but it is important to have everything ruled out for the best care of your child.

On Rett Syndrome

An Introduction to Rett Syndrome

 What separates Rett syndrome from the other Pervasive Developmental Disorders is that it almost exclusively affects girls, whereas Autistic Disorder affects boys at a much higher rate than girls.

Worldwide Rett Syndrome affects 1 in every 10,000 to 15,000 females of all races and ethnicity. Prenatal testing is possible for families who have had a child born with Rett, but since the chances of developing Rett is so low, the chances of a family having two children born with Rett is less than 1%. Most boys born with the genes thought to be responsible for Rett often die shortly after birth. Because Rett syndrome is thought to be caused by a mutation to the X chromosome, girls are thought to be more able to compensate for the mutation because they have two X chromosomes where boys only have one and aren’t able to compensate.

In Rett Syndrome, similar to Asperger’s, there is normal early development and then a slowing of development, distinctive hand movements, lack of purposeful use of hands, and slowed head and brain growth. Problems walking, seizures and intellectual disability are usually also present. This disorder was first described by Dr. Andreas Rett, an Austrian physician in 1966, but it wasn’t until later in 1983 that it was recognized as a disorder after an article about it was written by Swedish researcher Dr. Bengt Hagbeg.

Like all of the Pervasive Developmental Disorders, the severity of symptoms in Rett varies from child to child, but they all start with relatively normal development, although loss of muscle tone (hypotonia), jerkiness in limb movements and difficulty feeding are often noticeable even in infancy. Gradually more apparent physical and mental symptoms become apparent such as the inability to talk and loss of purposefully movement of hands which is followed by compulsive hand movements such as wringing and washing.  Other symptoms such as problems walking, crawling and lack of eye contact may also be early signs. This period of regression is often sudden. The inability to perform motor functions (Apraxia) is one of the most severe disabilities of Rett syndrome, it effects body movement, eye gaze and speech.

Early stages of Rett syndrome often resemble Autistic disorder or one of the other Pervasive Developmental Disorders.  Some symptoms may also include walking on toes, awkward gait, difficulty chewing, teeth grinding, slowed growth, sleep problems, breathing problems, air swallowing, cognitive disabilities and apnea (holding breath)..

Diagnosis

Rett is typically diagnosed by a developmental pediatrician, pediatric neurologist or clinical neurologist using many of the same neurological, physical and psychological assessments used to diagnose the other Pervasive Developmental Disorders with the inclusion of genetic testing to look for the MECP2 mutation on the child’s X chromosome.

The Diagnostic and Statistical Manual of Mental Disorders also has these criteria for diagnosing Rett Disorder.

  • All of the following:
    • apparently normal prenatal and perinatal development
    • apparently normal psychomotor development through the first 5 months after birth
    • normal head circumference at birth
  • Onset of all of the following after the period of normal development:
    • deceleration of head growth between ages 5 and 48 months
    • loss of previously acquired purposeful hand skills between ages 5 and 30 months with the subsequent development of stereotyped hand movements (i.e., hand-wringing or hand washing)
    • loss of social engagement early in the course (although often social interaction develops later)
    • appearance of poorly coordinated gait or trunk movements
    • severely impaired expressive and receptive language development with severe psychomotor retardation

Causes

According to research, nearly all cases of Rett syndrome are due to a mutation in the metyl CpG binding protein 2 (MECP2) gene. The gene was discovered in 1999 and controls many other genes. It may also be responsible for some of the other Pervasive Developmental Disorders. This gene is needed for brain development and helps other genes increase or decrease their own unique expressions and proteins. This genes malfunction causes other genes to become abnormal. The puzzling thing is, not everyone with MECP2 mutation has Rett syndrome, so other genetic mutations are also thought to be responsible and research is ongoing. Rett syndrome is not thought to be genetic. Only about 1% of Rett syndrome cases are thought to be inherited, which means that in the overwhelming majority of cases, the gene mutations are random.

Treatment

Just like all the other Pervasive Developmental Disorders, there is no cure for Rett Syndrome and treatment is pretty similar including medication and therapy to help control and minimize many of the disabling features of Rett syndrome.

Although Rett syndrome can be very disabling, many people with Rett live to be in their 40’s and 50’s and perhaps even longer . 

Resources

International Rett Syndrome Foundation: www.rettsyndrome.org

National Institute of Child Health and Human Development (NICHD): www.nichd.nih.gov

Office of Rare Diseases: www.rarediseases.info.nih.gov

Rett Syndrome Research Trust: www.rsrt.org