Tag Archives: Neurological Deficits

Question?: Rett Syndrome Research

Chris asks…

Does anyone know why Rett Syndrome girls start off “normal” & then regress?

Okay I’m aware of what Rett Syndrome is & how it works (for the most part anyway) but what has me confused the most is that most of these girls develope normally for about the first 6-18 minths & then start to regress/lose skills they’ve already learned (i.e. talking, walking, eye contact) . I know this is due to a mutation in the MEPc2 gene but why/how is it they can learn things & then lose them later on. I relize the gene is responsible for turning on/off certian protiens but what is making these girls funtion properly in the beginning then? another gene maybe?

admin answers:

To quote a passage from wikipedia:
“The recent studies demonstrating that neurological deficits resulting from loss of MeCP2 can be reversed upon restoration of gene function are quite exciting because they show that neurons that have suffered the consequences of loss of MeCP2 function are poised to regain functionality once MeCP2 is provided gradually and in the correct spatial distribution. This provides hope for restoring neuronal function in patients with RTT. However, the strategy in humans will require providing the critical factors that function downstream of MeCP2 because of the challenges in delivering the correct MeCP2 dosage only to neurons that lack it, given that the slightest perturbation in MeCP2 level is deleterious. Thus, therapeutic strategies necessitate the identification of the molecular mechanisms underlying individual RTT phenotypes and picking out the candidates that can be therapeutically targeted. The next phase of research needs to assess how complete the recovery is. Clearly, lethality, level of activity, and hippocampal plasticity are rescued, but are the animals free of any other RTT symptoms such as social behavior deficits, anxiety, and cognitive impairments? Since postnatal rescue results in viability, it will be important to evaluate if even the subtler phenotypes of RTT and MECP2 disorders are rescued when protein function is restored postnatally. This is particularly important given emerging data about early neonatal experiences and their long-term effects on behavior in adults.”

What I get from that is that the nerves become damaged by the defective gene, resulting in a loss of abilities that have already been learned.

Sorry if you’ve already read this, but this is just about all I could find as far as the reason for the decline period.
Hope this helps!

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All About Aspergers Syndrome

If your child has recently been diagnosed with Aspergers Syndrome, then you likely have more questions than answers about this little-known diagnosis.

This article presents answers to some of parents’ most common questions about Aspergers Syndrome.

What IS Aspergers Syndrome?

Aspergers Syndrome, named for Hans Asperger, an Austrian physician, is a milder form of autistic disorder. Both conditions are part of a larger group of neurological disorders known in the US as Pervasive Developmental Disorders, or PDD for short. The 2 most common symptoms are eccentric behavior and self-imposed social isolation. Sometimes speech is affected as well as gait and motor skills. Your child may also be exclusively focused on a particular area of interest, such as cars or astronomy. The social isolation comes from the child wanting to know everything about his or her area of interest and little else. Conversations are usually focused only on that area as well.

What causes Aspergers Syndrome?

Experts believe that Aspergers and autism have underlying biological causes, but are not clear yet on what those causes are. They do know that there are certain brain structure abnormalities, but do not know why they occur.

How are Aspergers Syndrome and autism different?

Aspergers usually begins later in childhood and has a more hopeful outlook. The child tends to function at a higher level with Aspergers too. Aspergers children tend to be clumsy, but overall have less neurological deficits than autistic children.

How does the doctor know for sure that my child has Aspergers Syndrome?

Diagnosis of most any mental/emotional disorder tends to be one of ruling out other conditions and noting certain patterns of behavior. There is no definitive test for Aspergers, but there are certain patterns, including:

Significant impairment in social interaction, as demonstrated by: – impaired nonverbal communication – failure to develop age-appropriate peer relationships – lack of shared enjoyment of activities/surroundings with others – unable to reciprocate socially and/or emotionally
Repeated patterns of behavior or interest, such as: – abnormal intensity of interest in one or two specific areas – rigid rituals that serve no functional purpose – repetitive mannerisms, such as hand or finger flapping – persistently preoccupied with parts of objects
Significant impairment in developmental areas of functioning (social, occupational and other areas)
No significant delay in language
No significant delay in cognitive development or learning of age-appropriate self-care skills

If your child meets one or more of the above criteria, then your doctor may suspect Aspergers.

Is my child crazy or mentally ill?

Aspergers Syndrome in and of itself is not a mental illness; it is a developmental disorder. However, it is fairly commonly associated with the following conditions:

Attention Deficit Hyperactivity Disorder (ADHD)
Oppositional Defiant Disorder (ODD)
Depression
Bipolar Disorder
Generalized Anxiety Disorder
Obsessive Compulsive Disorder (OCD)

How is Aspergers Syndrome treated?

There aren’t any treatments for Aspergers that will make it “go away.” However, by using a combination of approaches that address the three core symptoms of the disorder (poor communication skills, obsessive or repetitive routines and physical clumsiness); you can help your child live a fairly normal life. It’s also important to start treatment as early as possible. The treatment approaches your doctor recommends may include:

Psychotherapy
Parent education & training
Behavior modification
Social skills training
Educational interventions
Medications, such as stimulants, mood stabilizers, antidepressants, and SSRIs

Is there any cure for Aspergers Syndrome?

Unfortunately, there is no cure for this condition, and children do not “grow out” of it either. It is likely that your child will always find social situations and personal relationships to be challenging. But many adults with Aspergers are able to live healthy, productive lives, although they may always need support to do so.

What do I need to do as a parent of a child with Aspergers Syndrome?

The most important thing you can do is to get your child into a treatment regime early and then stick with it, even during the tough times. It will be worth it in the long run if you take steps to support your child’s progress and help him or her adjust and adapt. You can serve as case manager or coordinator, and try to involve all of your child’s caregivers in treatment as much as you can. You should teach your child self-help skills as he/she grows and develops. Look for treatment and educational programs that address your child’s problem areas. Get support for yourself too. You won’t be at your best with your child if you’re exhausted and frustrated.

Hopefully, these answers have addressed some of your most pressing questions. To learn more, search for information on the Web at reputable sites or look for a book at your local bookstore. Also, talk with your pediatrician and never be afraid to keep asking questions until you get answers you can understand.

For more Aspergers Articles by Ian Williamson please visit http://www.real-articles.com/Category/Add/212
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