Tag Archives: Childhood Disorder

In Mouse Model Of Rett Syndrome, Bone Marrow Transplant Arrests Symptoms

Main Category: Autism
Also Included In: Pediatrics / Children’s Health;  Neurology / Neuroscience;  Transplants / Organ Donations
Article Date: 19 Mar 2012 – 2:00 PDT

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A paper published online in Nature describes the results of using bone marrow transplant (BMT) to replace faulty immune system cells in models of Rett Syndrome. The procedure arrested many severe symptoms of the childhood disorder, including abnormal breathing and movement, and significantly extended the lifespan of Rett mouse models. Exploring the function of microglia deficient in methyl-CpG binding protein 2 (Mecp2), the protein encoded by the “Rett gene,” principal investigator Jonathan Kipnis, Ph.D. and his team at the University of Virginia School of Medicine uncovered a completely novel approach to this devastating neurological syndrome. The work was funded by the Rett Syndrome Research Trust and the Rett Syndrome Research Trust UK.

Rett Syndrome, the most physically disabling of the autism spectrum disorders, is caused by random mutations in the gene MECP2. Predominantly affecting girls, symptoms usually manifest between 6 and 18 months of age, when a frightening regression begins. Children lose acquired language skills and functional hand use; movement deteriorates as other Rett symptoms appear. These may include disordered breathing, Parkinsonian tremors, severe anxiety, seizures, digestive and circulatory problems and a range of autonomic nervous system and orthopedic abnormalities Although most children survive to adulthood, many are wheelchair-bound, rely on feeding tubes, are unable to communicate and require total, lifelong care.

Kipnis was drawn to Rett Syndrome from his perspective as a neuroimmunologist. “What began as intellectual curiosity,” he explains, “has become an intense personal commitment to studying the correlation between neurological function and the immune system in Rett Syndrome. The impact of BMT on so many different symptoms has triggered a flood of experiments we are now pursuing at full speed.”

The brain is largely comprised of several types of glial cells, which have diverse and complex functions that include sustaining a healthy environment for neuronal growth and maintenance. Microglia are small glial cells that participate in the brain’s immune response. One of their roles is to clean up normal cellular debris in the brain through the process of phagocytosis. Kipnis and his team discovered that when microglia lack properly functioning Mecp2, they are unable to perform this crucial duty efficiently. Because microglia are derived from immune progenitor cells, it is possible to replace them via a bone marrow transplant.

First author Noël Derecki and his colleagues began their work with male Rett mouse models, which lack any Mecp2. These Mecp2-null mice mimic the human disorder, with neurological symptoms beginning to appear at about 4 weeks of age and an approximate life expectancy of only 8 weeks. Radiation treatment was administered at 4 weeks, followed by a bone marrow transplant from normal (wild-type) mice. As engraftment – the migration and repopulation of new microglia – took place, the Rett mice began to grow instead of fail. Body and brain sizes approached those of wild-type mice, gait improved and mobility increased significantly. There were no signs of the severe tremors seen in untreated mice. Apneas and other breathing irregularities were markedly diminished. The oldest of these mice is now almost a year. Work with female Rett mouse models at more advanced stages of disease is currently underway.

Gail Mandel, Ph.D., whose Rett research focuses on astrocytes, another type of glial cell impaired by mutations in MECP2, comments, “A fascinating aspect of these findings is the data suggesting that deficits in the engulfing properties of microglia are a crucial aspect of Rett neuropathology. It will now be necessary to develop cellular assays to determine all the ways these immune cells are bolstering neuronal functions and whether they can be therapeutically harnessed.” Dr. Mandel is a Senior Scientist at the Vollum Institute and a Professor in the Department of Biochemistry and Molecular Biology in the School of Medicine at Oregon Health & Science University and an Investigator of the Howard Hughes Medical Institute.

Monica Coenraads, Executive Director of the Rett Syndrome Research Trust added, “I’ve been in almost daily contact with Dr. Kipnis since he brought his very original proposal to RSRT, and have been amazed to see the development of this brutal disease stopped in its tracks. A question that arises, of course, is whether replacing faulty immune cells with healthy microglia through bone marrow transplant would arrest or ameliorate already existing symptoms in humans. We do know of a case in which a girl with Rett Syndrome who was treated for leukemia gained considerable communication skills after a bone marrow transplant, and was able to converse with her mother for the first time in their lives. RSRT is in the process of exploring bone marrow transplant as a treatment modality, with full awareness of the serious nature of such a trial. In research, we are risk-takers. In clinical application, we are conservative and will be examining this carefully as more information emerges.”

Adds Noël Derecki, “Our encouraging results point to how surprisingly tractable this severe disorder proves to be, at least in the lab. We are currently exploring how bone marrow transplantation might affect Rett symptoms once they have become more advanced, and whether there are other effective ways of modulating immune responses and subsequent effects in the central nervous system.”

Article adapted by Medical News Today from original press release. Click ‘references’ tab above for source.
Visit our autism section for the latest news on this subject. The paper, authored by Noël C. Derecki, James C. Cronk, Zhenjie Lu, Eric Xu, Stephen B.G. Abbott, Patrice G. Guyenet and Jonathan Kipnis, is entitled Wild type microglia arrest pathology in a mouse model of Rett Syndrome. doi:10.1038/nature10907
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Autism Spectrum Disorder

INTRODUCTION

Every parent has hopes and dreams for their children and all parents want their kids to

be the best and even though no one is ever perfect, they would still try to make them

perfect, But all this may be shattered once this little boy or girl gets diagnosed with

one of the most alarming disorders in the world of childhood disorders which is not

only a serious disability; but is also a bewildering one this disorder is called Autism.

A. Title:

Autism Spectrum Disorder

B. Why Autism?

there were six childhood psychological disorders other then autism that any person would find very interesting to do a research about, but autism is found to be one of the most dangerous and confusing childhood disorder any parent can find also learning a bit about autism in Oman made it very important to talk and explain this disorder to Omani parents and the Omani community as a whole.

C. Purpose:

To spread awareness on the Autistic Spectrum Disorder in Oman and this will have a great and positive impact on the treatment of the Omani children that were diagnosed with Autism.

 

 

D. Objectives:
To give the reader a clear and detailed information on the Autistic Spectrum Disorder.
To spread awareness on the Autistic Spectrum Disorder to the Omani people in specific.
E. Limits and Difficulties:
The time given before the dead-line was not enough.
References like books, articles, etc… Related to the subject were very limited.

 

F. Methodology:

The methods used to complete this report included reading from different sources including: Books, Magazines, and Web sites also visiting The Muscat Autism Center was very helpful.

 

 

 

 

 

Autism Spectrum Disorder

The Root of the word “Autism:

The word Autism comes or drives from the Greek word “Auto” which means self, and the adjective word “Autistic” literally means alone.

In the world of psychology and psychiatry autism or Autistic Spectrum Disorder is defined as:

A life-long brain disorder that is normally diagnosed in early childhood.
A disorder that causes kids to experience the world differently from the way most other kids do.
A complex developmental disability that typically appears during the first three years of life and affects a person’s ability to communicate and interact with others.

The history of Autism:

The word “Autism” was first used in 1943 by a psychiatric and physician called Leo Kanner who wrote a paper on “Autistic Disturbance of Attitude contact ” for a journal called: nervous child” which does not exist anymore, Dr. Leo wrote that article after conducting a research on 11 children of ages between two to eight years old who had similar symptoms which included difficulties communicating with others, difficulties interacting with others, and having unusual interests. Before the publication of that article children with the previous symptoms were labeled as “schizophrenic”. (Kocgel & Lazebnik)

 

Types of Autism

 

There are many types of autism some are known while others are not known, but there are 5 main types that most researchers agree with, which are:

1) Classic Autism:

This type can be recognized before the age of 3 years, but can be diagnosed later in life. Children diagnosed with classic autism show lack of eye to eye contact, lack of affection or emotional contact with others, difficulty to socialize and interact with others, intense wish for sameness in routine, and develop language late or not at all.

Children diagnosed with Classic autism also show high levels of Visio -spatial skills* but major difficulties in other areas.

2) Autism Spectrum Disorder (ASD) which  includes:

A)    Aspergers Syndrome:

Is a form of autism in which speech development and IQ are normal, but in which social disabilities can be compounded by depression and mental health problems [1]. This syndrome is a higher functioning disorder than classic autism and can range from mild to saver. A child diagnosed with Aspergers Syndrome can exhibit a number of characteristics, show deficiencies in social skills and have difficulties with transition or change ( they compulsively stick to rituals and any changes in their routine can upset them), they also find it difficult to read body language and to determine the proper body space.

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Some of the kids that were diagnosed with Aspergers Syndrome have shown reduced sensitivity to pain & an increased sensitivity to bright light and loud noises.

*Visual Spatial Learners have a very wide imagination, that helps them make a whole movie just by reading something, that is because they can draw a picture in their mind about anything they read or hear.

 

B)  Rett Syndrome or Rex Syndrome:

This is a neurological & developmental disorder that is marked by poor head growth. Some doctors claim that Rett or Rex Syndrome is not a part of autism spectrum disorder, the reason behind this claim is that Rett or Rex Syndrome is a disorder that mostly occurs in females whereas autism affects mostly males.

Children suffering from this syndrome show loss of muscle tone, diminished eye contact, and crawling or walking problems, they also stop using their hands and often develop stereotyped hand movements such as: wringing, clapping, or patting their hands. Kids diagnosed with Rett or Rex Syndrome loses the ability to perform motor skills.

C) Childhood Disintegrative Disorder (CDD):

This disorder occurs a little late in the child’s life, first the child seems perfectly normal then by the age of 2-4 years they start to regress, where they stop socializing with people, loss potty-training skills, stop playing, and stop making friends. The difference between autism and CDD is the long period of normal development below age 2. (Bock & Stauth, 1999)

D) Pervasive Developmental Disorder-Not Otherwise Specified (PDD-NOS):

A child that exhibits some but not all of the classic autism symptoms is said to have PDD-NOS.

Children with PDD-NOS either do not fully meet the criteria of symptoms used to diagnose any of the four specific types of autism or do not have the degree of impairment described in any of the above four specific types.

Causes of Autism

Until this very day no one knows what the exact cause of autism is the only thing that is clear is that autism affects 1 of 150 kids.

The brain contains over 100 billion nerve cells called neurons. Each neuron may have hundreds or thousands of connections that carry massages to other nerve cells in the brain and body. The connections and the chemical messengers (called neurotransmitters) let the neurons that help you see, move, remember, and work together as they should, but for some reason some of the cells and connections in the brain of a kid with autism –especially those that affect communication, emotion, and senses- don’t develop properly or get damaged. Scientists are still trying to understand how and why this happens [1].

Is lack of a mother’s affection a cause for autism?

While the definite causes of autism is not yet found or clear, it is clear that there is no any connection between bad parenting or having a cold mother and the development of autism.

At first Dr. Leo Kanner, the psychiatrist who first described autism as a unique condition in 1943, believed that it was caused by cold, unloving mothers. Bruno Bettelheim, a renowned professor of child development supported this misinterpretation of autism. Their promotion of the idea that unloving mothers caused their children’s autism created a generation of parents who carried the tremendous burden of guilt for their children’s disability.

In the 1960s and 70s, Dr. Bernard Remand, the father of a son with autism, who later founded the Autism Society of America and the Autism Research Institute, helped the medical community understand that autism is not caused by cold parents but rather is a biological disorder.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

The diagnosis of Autism

There are no any biological tests that can be done to detect if a child is suffering from autism or not, the diagnosis of autism depends solely on observation and also educational and psychological testing.

An autism-specific screening tool, such as the Modified Checklist of Autism in Toddlers (MCHAT) should be used. The MCHAT is a list of simple questions about the child. The answers determine whether he or she should be referred to a specialist, usually a Developmental Pediatrician, a Neurologist, a Psychiatrist or a Psychologist, for further evaluation.

What do doctors do?

Often, specialists work together as a team to figure out what is wrong. The team might include a pediatrician, a pediatric neurologist, a pediatric develop- mentalist, a child psychiatrist, a child psychologist, speech and language therapists, and others. The team members study how the child plays, learns, communicates, and behaves. The team listens carefully to what parents have noticed, too. Using the information they have gathered doctors can decide whether a child has autism or not.

DSM-IV criteria for a diagnosis of Autism:

A total of six (or more) items from heading (A), (B), and (C), with at least two from (A), and one each from (B) and (C):

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

• 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.
• Failure to develop peer relationships appropriate to developmental level.
• A lack of spontaneous seeking to share enjoyment, interests, or achievements with other people, (e.g., by a lack of showing, bringing, or pointing out objects of interest to other people).
• A lack of social or emotional reciprocity.

(B) Qualitative impairments in communication as manifested by at least one of the following:

• Delay in or total lack of, the development of spoken language (not accompanied by an attempt to compensate through alternative modes of communication such as gesture or mime).
• In individuals with adequate speech, marked impairment in the ability to initiate or sustain a conversation with others.
• Stereotyped and repetitive use of language or idiosyncratic language.
• Lack of varied, spontaneous make-believe play or social imitative play appropriate to developmental level.

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

• Encompassing preoccupation with one or more stereotyped and restricted patterns of interest that is abnormal either in intensity or focus.
• Apparently inflexible adherence to specific, nonfunctional routines or rituals.
• Stereotyped and repetitive motor mannerisms (e.g. Hand or finger flapping or twisting, or complex whole-body movements).
• Persistent preoccupation with parts of objects.

II. Delays or abnormal functioning in at least one of the following areas, with onset prior to age 3 years:

(A) Social interaction.
(B) Language is used in social communication.
(C) Symbolic or imaginative play.

III. The disturbance is not better accounted for by Rett’s Disorder or Childhood Disintegrative Disorder.[1]

 

 

 

 

 

[1] (diagnostic and statistical manual of mental disorders , fourth edition)

 

Treatments used to cure clients diagnosed with Autism

There is no cure for autism but there are treatments that will help reduce the intense of the disorder and help the child and the family cope with the disorder.

Treatment for autism is a very intensive, comprehensive undertaking that involves the child’s entire family and a team of professionals. Some programs may take place in the child’s home with professionals and trained therapists and may include Parent Training for the child under supervision of a professional. Some programs are delivered in a specialized center, classroom or preschool.

There are many therapies and treatments for autism here are some of the most common ones [1] :

Applied Behavior Analysis (ABA)
Pivotal Response Therapy (PRT)
Verbal therapy
Floor time
Relationship Development Intervention

 

 

 

 

 

[1] (http://www.autismspeaks.org/treatment/floortime.php)

Autism in Oman

As mention in the beginning of the report the main objective from this report is to spread introduce the “Autism Spectrum Disorder” to the Omani people, because after a field research that was made in Oman on children suffering from autism the number 4000,200,1, and 0 was the result of this research.

What does 4000, 200, 1, and 0 stand for?

4000 = number cases of autism in Oman.

200 = number of cases diagnosed in Oman.

1 = number of child psychiatry clinic in Oman.

0 = the future number of undiagnosed cases of autism in Oman.

After reading and understanding the above number it is belived that no more words or discussion is need accept:

“There is a problem you are the solution. There is a dream, you make it real”

Dr. Yahya Al-Farsi

 

 

 

 

 

 

 

 

 

 

 

Conclusion

Autism Spectrum Disorder is a very scary developmental disorder that deserves special attention, and having as much knowledge about this disorder makes it easier to notice it and diagnosing it earlier and this will help lower the risk of it becoming a sever and un-curable disorder.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 


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