Fragile-x Sentence Examples
Patients with fragile X syndrome are also at increased risk of developing mitral valve prolapse, which may be causing his breathlessness.
Mental retardation may be caused by an inherited abnormality of the genes, such as fragile X syndrome.
There are many causes of mental retardation, including identified genetic syndromes such as Down syndrome, Williams syndrome, or fragile X syndrome.
In about 5 percent of cases, retardation is transmitted genetically, usually through abnormalities in chromosomes, such as Down syndrome or fragile X syndrome.
People who carry a premutation do not usually have symptoms of fragile X syndrome, although there have been reports of individuals with a premutation who have subtle intellectual or behavioral symptoms.Advertisement
Individuals who carry a fragile X premutation are at risk for having children or grandchildren with the premutation.
Premutation carriers may exist through several generations of a family though no symptoms of fragile X syndrome appear.
Individuals who carry the full mutation may have fragile X syndrome.
A female's normal X chromosome may compensate for her chromosome with the fragile X gene mutation.
Another feature of fragile X syndrome is that mosaicism is present in 15 to 20 percent of those affected by the condition.Advertisement
Individuals with fragile X syndrome appear normal at birth, but their development is delayed.
Most boys with fragile X syndrome have mental impairment.
Children with fragile X syndrome often have frequent ear and sinus infections.
Many babies with fragile X syndrome may have trouble with sucking, and some experience digestive disorders that cause frequent gagging and vomiting.
A small percentage of children with fragile X syndrome may experience seizures.Advertisement
Children with fragile X syndrome also tend to have loose joints, which may result in joint dislocations.
If a child exhibits delayed development and mental impairment and has other symptoms typical of fragile X syndrome, the doctor should be consulted to determine the cause of the problems.
A birth, there may be few outward signs of fragile X syndrome in the newborn infant.
However, fragile X symptoms may include a large head circumference and oversized testes in males.
However, any child with signs of developmental delay of speech, language, or motor development with no known cause should be considered for fragile X testing, especially if there is a family history of the condition.Advertisement
Behavioral and developmental problems may indicate fragile X syndrome, particularly if there is a family history of mental retardation.
Definitive identification of the fragile X syndrome is made by means of a genetic test to assess the number of CGG sequence repeats in the FMR-1 gene.
Genetic testing for and detection of the fragile X mutation can be performed on the developing baby before birth through amniocentesis, chorionic villus sampling (CVS), and percutaneous umbilical blood sampling.
Prenatal testing is recommended after the fragile X carrier status of the parents has been confirmed, and the couple has been counseled regarding the risks of recurrence.
Early diagnosis and intensive intervention offer the best prognosis for individuals with fragile X syndrome.Advertisement
Adults with fragile X syndrome may benefit from vocational training and may need to live in a supervised setting.
Neither the fragile X premutation nor mutation is preventable as of 2004.
Genetic counseling may help prospective parents with a family history of fragile X syndrome.
A child with fragile X syndrome requires many services, so parents must be prepared to invest significant time and resources to ensure the child receives the help that he or she needs.
Support groups are often good sources of information about fragile X syndrome; they can offer helpful suggestions about living with it as well as emotional support.
Educating Children with Fragile X Syndrome.
Autism has also been shown to occur more frequently among individuals who have certain medical conditions, including fragile X syndrome, tuberous sclerosis, congenital rubella syndrome, and untreated phenylketonuria.
Since autism is shown to run in families, there is most certainly a genetic component, specifically with Fragile X Syndrome, to these disorders.
These include Phenylketonuria, Williams Syndrome, Tuberous Sclerosis, and Fragile X syndrome.
A family of genetic syndromes that are caused by changes in the same gene, Fragile X can result in impairments in a spectrum that ranges from mild learning problems with a normal range IQ to severe developmental disabilities.
For this reason, girls are less likely to be affected by Fragile X than boys are, and those who do develop the syndrome are often more lightly affected than males with the disorder.
A father who carries the Fragile X mutation can only pass the milder, premutation form of the FMR1 gene to his daughters, even if he carries the full mutation gene.
Fathers cannot transmit Fragile X to sons, since they contribute only Y chromosomes to male children.
Mothers who have one mutated X chromosome and one normal copy have a 50 percent chance of passing the mutation to each child they bear, though they are very likely to show no symptoms of fragile X themselves.
However, with each generation, the chances of having a child born with Fragile X syndrome from that altered gene increases.
The most consistent effects of Fragile X are seen in cognitive or intellectual development.
Cognitive effects in females with Fragile X tend to be less severe, with only about one third having an IQ score that indicates mental retardation.
Physical characteristics commonly associated with Fragile X can include an elongated face or jaw, prominent ears, a broad forehead, and a slightly larger than average head.
Many individuals with Fragile X will be shorter than average, and loose, flexible joints are common.
Males with Fragile X may develop enlarged testicles at the onset of puberty, and those with this syndrome can be prone to certain medical conditions, such as hernia, middle ear infections, and heart murmur, among others.
Individuals with Fragile X have a higher than average risk of developing autism spectrum disorders.
In fact, Fragile X is the most common known single gene cause of ASD.
About one third of children who are diagnosed with Fragile X also have autism, accounting for approximately 2-6 percent of overall autism cases diagnosed.
The relationship between autism and Fragile X Syndrome has proven to be both definite and complex.
Not everyone with Fragile X syndrome is autistic, and not every autistic child has Fragile X Syndrome.
Taking the latter first, Fragile X Syndrome is a genetic disorder carried by the X chromosome (the female one).
If she has a son, he only inherits one X chromosome, which means there is a high chance that he will have Fragile X Syndrome.
However, there is one major difference in the majority of males with Fragile X in terms of socialization.
According to the Child Development Institute, it has been shown that children with Fragile X who are integrated into "normalized" educational and social environments "achieve above the level that would have been predicted from measured IQ".
Because it is a definite genetic abnormality, it is completely possible for anyone, male, female, adult or child to be tested for the Fragile X gene.
Many of the strategies used by teachers and therapists for autistic children can also benefit children with Fragile X Syndrome.
People with Fragile X Syndrome, or FXS, may also have autism, and many people with autism also have FXS.
Discovering whether a child has Fragile X syndrome is very easy.
Discovering whether a child has Fragile X Syndrome or not, is simply a matter of doing a genetic test.
Boys with Fragile X often have difficulty with language, whether spoken or written.
For some reason, girls with Fragile X Syndrome usually don't have this problem.
While this is not a complete list of symptoms, anyone familiar with ASD can see why people with Fragile X Syndrome can also be suspected of being autistic.
According to the Fragile X Foundation, the syndrome is the most common single gene cause of autism, being the sole cause in 2-6% of all children who have autism.
At the same time, around 33% of all children who have Fragile X syndrome also have some form of autism.
There are, however, some key differences in the symptoms and the treatment of autism and Fragile X Syndrome.
Children who have Fragile X Syndrome but do not have autism are usually very social, and thrive in group environments.
At this point, the Fragile X Foundation along with other medical professionals believes that any child who shows signs of autism or retardation should be tested genetically for Fragile X Syndrome.
Unlike autism, people with Fragile X Syndrome can be easily identified genetically even before birth, and this can help parents prepare for the steps necessary to help their child thrive.
Many support groups for Fragile X exist, sometimes overlapping with autism support groups as concerned individuals come together to help those with ASD, FXS, or both.
Since other pervasive developmental disorders, such as Fragile X Syndrome, have genetic causes and autism appears to run in some families, researchers have looked for possible genetic connections to autism.
Both fragile X and mitochondrial disorder are distinct conditions that may or may not appear with the symptoms of autistic disorders.
Nervous system diseases include conditions like Alzheimers, Fragile X syndrome and Rett's disorder.