Thursday, March 10, 2011

Sources:


"Characteristics of CLS." Clsf.info. Coffin-Lowry Syndrome Foundation. Web. 5 Mar. 2011. <http://www.clsf.info/>.

 "Coffin Lowry Syndrome." Http://rarediseases.info.nih.gov. National Institutes of Health. Web. 5 Mar. 2011. <http://rarediseases.info.nih.gov/GARD/Condition/6123/CoffinLowry_syndrome.aspx>.

 "Coffin Lowry Syndrome." Rarediseases.org. National Organization for Rare Disorders. Web. 5 Mar. 2011. <http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Coffin%20Lowry%20Syndrome>.

 "Coffin-Lowry Syndrome." Ghr.nlm.nih.gov. Genetics Home Reference. Web. 27 Feb. 2011. <http://ghr.nlm.nih.gov/condition/coffin-lowry-syndrome>.

 "Coffin-Lowry Syndrome." Ncbi.nlm.nih.gov. National Center for Biotechnology Information. Web. 27 Feb. 2011. <http://www.ncbi.nlm.nih.gov/books/NBK1346/>.

 "Genetic Counselors." Learn.genetics.utah.edu. The University of Utah. Web. 28 Feb. 2011. <http://learn.genetics.utah.edu/content/disorders/whataregd/counselors/>.

 "Physician FAQs." Nsgc.org. National Society of Genetic Counselors. Web. 27 Feb. 2011. <http://www.nsgc.org/Home/PhysicianPage/PhysicianFAQs/tabid/341/Default.aspx>.

 "Prevalence and Incidence of Coffin-Lowry Syndrome." Wrongdiagnosis.com. WrongDiagnosis.com. Web. 27 Feb. 2011. <http://www.wrongdiagnosis.com/c/coffin_lowry_syndrome/prevalence.htm>.

 "RIBOSOMAL PROTEIN S6 KINASE, 90-KD, 3; RPS6KA3." Ncbi.nlm.nih.gov. Online Mendelian Inheritance in Man. Web. 5 Mar. 2011. <http://www.ncbi.nlm.nih.gov/omim/300075>.

Saturday, March 5, 2011

How possible is it that a cure will be found?

Although the mutated gene that causes CLS is known, there is no cure currently in sight. There are ongoing studies evaluating other genes that might be manipulated.

What are some organizations that can help a family cope with CLS?

The Coffin-Lowry Syndrome Foundation is a wonderful site for families of affected patients. It offers a forum exclusive to families in which members can exchange ideas, advice, stories, information, etc.

For general information about diagnosis, treatment, inheritance, etc:
Coffin-Lowry Syndrome - Genetics Home Reference
Madisons Foundation - Moms And Dads In Search Of Needed Support

What limitations does a person have?

Limitations vary greatly in individuals. Writing, for example, depends on the level of fine motor control. Many learn a few simple words such as their own name and the names of their family members. Some do not learn to read or write at all. Still others do much better. According to parents of affected children, patients can memorize facts well, but are not able to apply them. For example, they could count to 20, but could not tell you how many fingers you are holding up.

What is everyday life like? What is the quality of life?

Everyday life is pleasant. According to parents, walking is learned by 2-3 years, and abnormalities are mild in many children. Speech abilities vary, but are always impaired. Children range from inability to communicate (usually in combination with hearing loss) to very good communication skills. Social and emotional interactions are the least affected. Patients express a range of emotions just like everyone. Generally polite and outgoing, only a few have behavior issues.

How can CLS be treated?

There is no cure for Coffin-Lowry syndrome. Treatment is symptomatic and specific to the individual.

What is the life expectancy of a CLS patient?

According to the Coffin-Lowry Syndrome Foundation, "Life span is reduced in some individuals with CLS. Of individuals reported in the literature, death occurred in 13.5% of males and 4.5% of females at a mean age of 20.5 (range: 13-34) years"

What are the physical symptoms of CLS?

Symptoms include physical, and intellectual delays. There are also behaviors symptomatic of this disorder.
For example, affected children have delayed sitting, crawling, and walking. The child’s gait may be clumsy or off-balance. Often, patients have “stimulus-induced drop episodes” or SIDE’s. Unexpected touch or sounds or excitement triggers a brief collapse but no unconsciousness.
Most patients with CLS are happy, pleasant individuals with good communication skills despite limited verbal abilities. Some behaviors overlap with characteristics of autism. On occasion, patients display temper tantrums, especially in transitioning from favorite activities. Some patients have a dislike of being touched, general anxiety, and language delays.
The typical  curved spine can cause back pain, and the short fingers can limit manual dexterity.

How is CLS diagnosed?

The diagnosis is usually made among males who show delayed development. Physical findings supporting the diagnosis include craniofacial abnormalities, fleshy hands with short tapered fingers, curvature of the spine, short stature, large ears and a prominent forehead. There is a genetic test involving the gene RPS6KA3 which can be used to confirm but not rule out CLS as a diagnosis.

What are the chances of an affected individual passing CLS to his or her children?

As I stated before, CLS follows an X-linked dominant inheritance pattern. Here are several scenarios:
If an unaffected male (XY) has children with a heterozygous female (X`X), half of their girls and half of their boys will have CLS. The affected girls will be heterozygous, and may or may not display CLS.
If an unaffected male (XY) has children with a homozygous affected female (X`X`), all boys will have CLS and all girls will be heterozygous and may or may not display the disorder.
If an affected male (X`Y) has children with an unaffected female, all daughters will be heterozygous for CLS, while all sons will remain unaffected.
To repeat what I said before, however, most cases (70-80 percent) occur from spontaneous mutations on the X-chromosome, not from inheritance.

How Prevalent is CLS in the population?

In the United States, about 1 per 14,285 people, or 19,040 individuals are affected by CLS. This is about 0.01% of Americans who have CLS. The National Institute of Health Office of Rare Diseases Research defines a rare disease as affecting less than 20,000 people in the United States. Coffin-Lowry Syndrome fits that description and is on their list of rare diseases which can be found here.

Sunday, February 20, 2011

What are some possible genotypes for parents?

Geneticists use 2 by 2 tables, called Punnett Squares, to predict the possible genetic traits (or genotypes) for children. Below are two Punnett Squares depicting possible CLS inheritance.
Table 1: Affected father (X`Y), unaffected mother (XX).

X`
Y
X
X`X
XY
X
X`X
XY
Male children in this scenario will not be affected. Female children will be affected by the dominant trait on the X chromosome.

Table 2: Affected mother, heterozygous (X`X), unaffected father (XY).

X
Y
X`
X`X
X`Y
X
XX
XY
In this scenario, 50 percent of daughters and 50 percent of sons will be affected.

In short: If the mother is heterozygous (X`X) she will pass it on to about half (50 percent) of her children.
If the mother is homozygous (X`X`) she will pass it on to ALL of her children.
If the father is affected (X`Y) he will pass the trait on to his daughters, but not to his sons.

Depending on the severity of the disorder, however, many CLS patients do not have children. Instead, CLS is often the result of a new mutation on the X chromosome.