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

Psychiatric Hospital: A Quick Glimpse Inside the Madness of an Institution

I normally try not to post on Friday through Sunday, so today will be a light post and a short break from our discussion on the Pervasive Developmental Disorders and will continue on Monday with Rett’s Disorder. Today however I’d like to share some of my past work experiences.

For three years I worked overnight in a mental hospital. It was three years I’ll never forget. After spending years in undergrad and grad school learning about all the diagnosis in the Diagnostic and Statistical Manual of Mental Disorders (DSM), it was great to actually get a chance to experience some of those disorders first hand.

Working overnight in a mental health hospital definitely gave me a lot of insight into mental illness and people who are often oppressed by the system that is set up to help them. It is also where I honed my assessment and diagnostic skills as a clinician, being able to work along side other seasoned clinicians, psychiatric nurses and psychiatrists.

The mental health hospital can be a life saver for some (if you have the right insurance/money) or just a revolving door of endless misery and disheartening for those less fortunate, which are usually the ones who need the services the most. With the right resources you get all the help (counseling, medication, case management, etc.) you need, otherwise you just get stabilized and sent back out the door (usually to return again and again without the proper treatment).

Still, for what it is worth, there is nothing like working in a mental health hospital, especially overnight when the clients are usually the most eccentric and usually outnumber the staff 3 to 1. You can go from consoling a woman suffering from post-partum depression one moment, to restraining a highly psychotic person the next, over and over again.

One night in particular I saw a young doctoral candidate who was contemplating suicide due to depression, social anxiety and paranoid thoughts that his peers thought he wasn’t good enough for them. Then I saw a woman who caught her husband in bed with her brother, went out drinking and then decided to try to slash her own throat.

All I could do at 3am in the confines of the mental health hospital was offer those troubled individuals some hope and guidance so that maybe they’d see light at the end of what they perceived to be a dark, endless tunnel of anxiety, depression and despair. So for them, and the other clients, at least for that night, the mental health hospital was a safe place for them to let down their guards, share their fears and lose their minds without judgment or recrimination.

On Asperger’s Disorder

In the 1940s, a pediatrician working in a clinic in Vienna named Hans Asperger treated several patients who displayed similar symptoms. However, because his work was conducted during World War II, none of it was seen amongst the English-speaking world so it wasn’t until the 1980s that his work was discovered by the English-speaking community and was translated in 1991 by Uta Frith. The characteristic first described by Hans Asperger became known as Asperger’s Disorder.

What Is Asperger’s Disorder?

Just like all of the Pervasive Developmental Disorders, children with Asperger’s have trouble relating to others.  In some children this means that they do not like interacting with others, or that they do enjoy interacting with others but lack the non-verbal skills (i.e. eye contact, smiling, facial expression, touching) necessary to have full interaction. Having a two way conversation with a child with Asperger’s is often very difficult because they have trouble understanding figures of speech, sarcasm, subtle suggestions and often take speech very literally.  These children are also often unaware of their own behavior and can’t relate to other children at their developmental level.

Children with Asperger’s also often have unusual behaviors and interests. Some children become almost obsessed with an object or ideal to the point that they exclude everything else. For example, a young man I worked with was very interested in sports and would talk you to death about sports, but only sports and if you tried to talk to him about anything unrelated to sports he would just go back to talking about sports. In other children, they may have extreme reactions to simple changes to their environment (i.e. movement of furniture or objects) or routine.

While all children with Asperger’s have impairment in social and behavior functions, the degree of impairment differs in each child. To be diagnosed with Asperger’s the symptoms have to be severe enough that it impacts their life (i.e. school functioning, family function, or social life).

How Does Asperger’s Differ from Autistic Disorder?

Asperger’s differs from Autistic Disorder in that there are no significant delays in cognition or language development.  Many children with Asperger’s have difficulty with non-verbal communication, hand eye-coordination and may appear clumsy. Some children with Asperger’s have an exceptional vocabulary and may speak earlier than expected. Because children with Asperger’s appear to develop normally, they usually aren’t diagnosed before the age of five while children with Autistic Disorder are generally diagnosed earlier. Some people reach all the way to adulthood without being diagnosed with Asperger’s, whereas children with Autistic Disorder generally aren’t expected to live independently.

Risk for Other Issues

Children with Asperger’s Disorder are often also diagnosed with Attention Deficit/Hyperactivity Disorder. They are also at a higher risk for Obsessive-Compulsive disorder. Undiagnosed children with Asperger’s often experience depression and social isolation, especially in their adolescent years when peer interactions and relationships become more important.

Diagnostic Criteria (Diagnostic and Statistical Manual of Mental Disorders IV)

I) Qualitative impairment in social interaction, as manifested by at least two of the following:

(A) marked impairments in the use of multiple nonverbal behaviors such as eye-to-eye gaze, facial expression, body posture, and gestures to regulate social interaction
(B) failure to develop peer relationships appropriate to developmental level
(C) a lack of spontaneous seeking to share enjoyment, interest or achievements with other people, (e.g.. by a lack of showing, bringing, or pointing out objects of interest to other people)
(D) lack of social or emotional reciprocity

(II) Restricted repetitive & stereotyped patterns of behavior, interests and activities, as manifested by at least one of the following:

(A) encompassing preoccupation with one or more stereotyped and restricted patterns of interest that is abnormal either in intensity or focus
(B) apparently inflexible adherence to specific, nonfunctional routines or rituals
(C) stereotyped and repetitive motor mannerisms (e.g. hand or finger flapping or twisting, or complex whole-body movements)
(D) persistent preoccupation with parts of objects
(III) The disturbance causes clinically significant impairments in social, occupational, or other important areas of functioning.

(IV) There is no clinically significant general delay in language (E.G. single words used by age 2 years, communicative phrases used by age 3 years)

(V) There is no clinically significant delay in cognitive development or in the development of age-appropriate self-help skills, adaptive behavior (other than in social interaction) and curiosity about the environment in childhood.

(VI) Criteria are not met for another specific Pervasive Developmental Disorder or Schizophrenia.”

I Think My Child May Have Asperger’s Disorder, What Do I Do?

If you think your child has symptoms of Asperger’s Disorder, contact your physician, school psychologist or a licensed psychologist to initiate an evaluation. Thorough medical, family and developmental histories will be taken, as well as interviews with the family and child as well as behavioral observations to help determine if a diagnosis of Asperger’s Disorder is correct.

All of the interventions and prognosis for Asperger’s Disorder are basically the same for all the other Pervasive Developmental Disorders and you can find those on my post about Pervasive Developmental Disorders.

Resources

Attwood, Tony. (2006) The Complete Guide to Asperger’s Syndrome. Jessica Kingsley Publishers.

Online Asperger Syndrome Information and Support

(OASIS) http://udel.edu/bkirby/asperger/

Center for Autism and Related Disabilities (CARD): http://card.ufl.edu/

Pervasive Developmental Disorders

Pervasive Developmental Disorders (PDD) are also known as Autistic Spectrum Disorders. They include a group of five neurological disorders characterized by developmental delays of basic functions such as the ability to communicate, understand language, and socialize with others including peers and family. The five developmental disorders are:

  • Autistic Disorder
  • Rett’s Disorder
  • Childhood Disintegrative Disorder
  • Asperger’s Disorder
  • Pervasive Developmental Disorders Not Otherwise Specified

Many parents are often confused by the term Pervasive Developmental Disorders when their child is diagnosed. Often this is because a lot of doctors are hesitant to diagnose very young children with a specific PDD, but PDD is not a true diagnosis, but a category that includes all five of the disorders listed above. The official diagnosis in this case should be Pervasive Developmental Disorders Not Otherwise Specified (PDDNOS) which simple means that there is a pervasive developmental disorder present, but the doctor has yet to narrow down which exact disorder it is.

I could write a very long post that tried to cover all of the PDDs, but that would be very long and perhaps confusing, so what I am going to do is post one at a time over the next few days. To understand each PDD it is good to have a definition of the overall disorder and so we will start with PDDNOS.

Pervasive Developmental Disorders Not Otherwise Specified

All PDDs are neurological disorders that are usually evident by the time the child is three years old. They generally have trouble playing with their peers, socializing and relating to others. They also often have stereotyped behavior, interest and activities, inappropriate fascination with objects and often don’t like changes, even small ones. One parent vented her frustration to me saying that it felt like her child was always rejecting her.

Children with PDDNOS either do not fully meet the criteria of the other PDDs or do not have the degree of impairment usually considered suitable to fulfill the diagnosis of the other four disorders. According to the Diagnosis and Statistical Manual of Mental Disorders IV (DSM-IV), this diagnosis should be used “when there is a severe and pervasive impairment in the development of social interaction or verbal and nonverbal communication skills, or when stereotyped behavior, interests, and activities are present, but the criteria are not met for a specific Pervasive Developmental Disorder, Schizophrenia, Schizotypal Personality Disorder, or Avoidant Personality Disorder” (American Psychiatric Association).

In general, children are usually diagnosed with PDDNOS when they have behaviors that are seen in Autism, but doesn’t meet the full diagnostic criteria.

Part of the confusion with PDDs is that the DSM-IV should be used as a guideline for diagnosing PDDS. Many doctors use it as a checklist. There are no clear guidelines for measure severity of symptoms which cause the lines between Autism and PDDNOS to become blurred. Confusion is also added in the fact that some doctors feel that Autistic Disorder only covers those who show extreme symptoms that meet every single criteria for it, while other doctors are comfortable using Autistic Disorder to define those with a broad range of symptoms related to language and social skills. Therefore, it is not uncommon for an individual to be diagnosed by one doctor as having Autistic Disorder and by another as having PDDNOS. There is growing evidence that PDDNOS and Autistic Disorder aren’t actually separate disorders, but are on a continuum which is why the term Autistic Spectrum Disorders is now frequently used to refer to PDDs. Multisystem Developmental Disorders is another term thrown around seldomly, but it is the same as PDDNOS and Autistic Spectrum Disorder.

Causes of PDDNOS

Studies that include behavioral and biological studies all suggest that PDDNOS is caused by neurological abnormalities (problems with the nervous system). However, no specific cause is known. There’s been controversy about childhood vaccinations being responsible for PDDNOS, but no clear evidence or studies have been able to show consistent evidence supporting that.

Symptoms/Signs of PDDNOS

These are some of the symptoms and signs of PDDNOS. Since it is a spectrum disorder, not all children will show the same symptoms, all of the symptoms or have the same intensity of symptoms as other children with PDDNOS.

  • Impairment in Nonverbal Communication
  • Impairment in Understanding Speech
  • Impairment in Speech Development
  • Abnormal Attachments and Behaviors
  • Unusual Responses to Sensory Experiences
  • Disturbance of Movement
  • Resistance to Change
  • Intellectual and Cognitive Deficits

They may also have associated features such as emotional expressions that are flat, excessive or inappropriate to the situation. They may scream, cry or laugh at any time for no apparent reason. They may not be afraid of real dangers such as falling or getting hit by a car, yet be terrified by a specific doll or stuffed animal.

Diagnosis

The DSM-IV is only one tool used to help diagnose PDDNOS. Medical assessments, occupational assessments (used to determine how the child’s different senses work together), interviews with the child’s parents, teachers, behavioral rating scales, psychological assessments, educational assessments and direct behavioral observations are some of the many other tools used to help diagnose PDDNOS. There are no specific test such as blood tests, or x-ray exams that can determine if a child has PDDNOS or not.

Treatments

Treatments for PDDNOS are usually the same used to treat all PDDs, but no one treatment will help all children and often they need to be individualized. Common treatments include:

  • behavior modification
  • structured educational approaches
  • medications
  • speech therapy
  • occupational therapy
  • counseling
  • family counseling
  • psychological treatment
  • facilitated communication
  • Auditory Integrative Therapy
  • Sensory Integrative Therapy
  • Dietary Therapies
The aim is typically to promote more acceptable and appropriate social and communication behavior as well as to minimize negative behaviors such as repetitive behaviors, self-injury, hyperactivity and aggression.

It is also important for parents of children with PDDNOS or any PDD (just like parents of children with any other disorder) to seek out help in the form of parent support groups in order to educate, remember that they are not alone and also to replenish themselves.

I hope that this post on PDDNOS was helpful. I realized halfway through writing this how tough it was going to be to try to cover PDDNOS in one post, partway through I was like, “What was I thinking” but hopefully I’ve laid out a decent basis to start discussing the other four disorders starting with Autistic Disorder tomorrow.

For those of you who want more information I’ve included the names, contact information and web addresses of some organizations below.

Resources

Autism Coalition
http://www.autismcoalition.com

Autism Patient Center
http://www.patientcenters.com/autism


Autism-PDD Resources Network
http://www.autism-pdd.net


Division TEACCH: http://www.teacch.com


Indiana Resource Center for Autism
http://www.iidc.indiana.edu/irca


National Institute of Child Health and
Human Development
http://www.nichd.nih.gov/publications/
pubskey.cfm

Asperger Syndrome Coalition of the United States, Inc. (ASCU.S.)
2020 Pennsylvania Ave., NW, Box 771, Washington, DC 20006
Telephone: 1-866-427-7747
Web: http://www.asperger.org
 
Autism Society of America
7910 Woodmont Avenue, Suite 300
Bethesda, MD 20814
Telephone: 1-800-328-8476
Web: http://www.autismsociety.org

International Rett Syndrome
Association, 9121 Piscataway Road,
Clinton, MD 20735. Telephone:
1-800-818-RETT; (301) 856-3334.
Web: http://www.rettsyndrome.org