Autistic behaviors among girls with fragile X syndrome.

Mazzocco MM, Kates WR, Baumgardner TL, Freund LS, Reiss AL.

Source

Kennedy Krieger Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

Abstract

Reports of autistic behaviors were examined for 30 school-age girls with fragile X (fraX) and 31 age- and IQ-matched controls through a structured interview administered to each girl's parent(s). IQ scores were obtained for each participant; anxiety, neuroanatomical, and molecular-genetic data were derived for girls with fraX. Girls with fraX had significantly more autistic behaviors than controls. These behaviors were qualitatively similar to those reported for boys with fraX, but were not correlated with IQ. Anxiety in girls with fraX was positively correlated with abnormal social and communication behaviors; posterior cerebellar vermis area was negatively correlated with measures of communication and stereotypic/restricted behaviors. Severity of stereotypic/restricted behaviors was negatively correlated with the prevalence of active non-fraX chromosomes. Thus anxiety and posterior cerebellar area measures had distinct associations with subsets of autistic behaviors; these associations may have important implications for understanding the neurobiology of autism.

A Doctor's Voice

http://youtu.be/gQGtLV5uuKg

Workings of brain protein suggest therapies for Fragile X Syndrome and autism

Workings of brain protein suggest therapies for Fragile X Syndrome and autism

Prenatal Testing

Three prenatal tests can determine if Fragile X is present in the fetus. Chorionic villi sampling (CVS) involves extracting a tiny amount of fetal tissue at 9 to 11 weeks of pregnancy. CVS is not widely used and carries a 1-2 percent risk of miscarriage following the procedure.
Amniocentesis is the removal and analysis of a small sample of fetal cells from the amniotic fluid. Amniocentesis is widely available and involves a lower risk of miscarriage. However, amniocentesis cannot be done until the 15th to 18th week of pregnancy and it usually takes an additional 2 to 4 weeks for the cells to grow and be analyzed. So a woman may have to wait until the 17th to 22nd week of her pregnancy to have the results of this test.
The third method, percutaneous umbilical blood sampling (PUBS), is the most accurate method and can be used to confirm the results of CVS or amniocentesis. However, PUBS is not widely available, PUBS is not done until the 18th to 22nd week and carries the greatest risk of miscarriage.

Medication & Fragile X

Children and adults with fragile X syndrome often present a variety of behavioral problems. These problems are typically seen in fragile X syndrome so they are presumed to be caused by a lack or a deficiency of normal FMR-1 protein (FMRP) production from the FMR1 gene which is dysfunctional in fragile X syndrome. Although there is presently no cure for fragile X syndrome, there are a variety of medications that can improve the behavior problems seen in fragile X syndrome. Not every fragile X child will have difficulty with the behaviors and not every child will respond to medication. When problems occur, a medication is usually prescribed on a trial basis and often two or more trials of medication are needed before finding one that works. Sometimes more than one medication is used to treat a combination of problems and sometimes medications are used together for a more effective outcome.  An open line of communication along with follow up visits is needed in order to adjust the medication level and monitor the side effects.

It is important to remember that medication is not the only treatment for fragile X syndrome. *The use of therapy in the motor and language areas and special education intervention are essential in the treatment program for a child with fragile X syndrome. In addition, counseling and behavior modification programs with positive reinforcement can be extremely important for children with significant behavior problems.

*Some of the more common behavior problems that respond to medication include: hyperactivity, impulsive behavior, attention difficulties, mood fluctuations, aggressive outbursts, anxiety and obsessive or compulsive behavior.

Oral presentation-11-08-11

Facts about Fragile X

·       Fragile X is a genetic condition that is caused by gene changes within the same gene called FMR1

·       Fragile X syndrome is the most common cause of inherited mental impairment

·       Fragile X is the most common cause of autism or “autism-like” behaviors

·       Both males and females are affected; however females are mildly affected.

·       Their currently is no cure for Fragile X, however with early intervention and supports in the area of ADL skills, education, speech and language, behavior, sensory integration and gross motor development an individual is more likely to adjust to typical settings.

·       Just a few physical characteristics; large/protruding ears, soft skin, flexible joints, low muscle tone, flat feet, long face, seizure disorder.

·       Just a few behavioral characteristics; speech and language delay, motor delay, hand flapping and biting, impulsivity, poor eye contact, ADHD, mental retardation, cognitive impairment.  

* For more interesting facts/videos/stories, please visit my blog @ factsaboutfragilex.blogspot.com

Very interesting video; I plan to show it again during my oral presentation