FRAGILE – X SYNDROME---By Sudha Hariharan
Mohit, a two-year-old boy visited the pediatrician for a routine visit. At his last visit, at 15 months of age, the history and physical examination were normal, but he was not talking. Today, Mohit still has no expressive language. He appears to hear normally and follows simple commands. His development appears normal for his age. He is described as shy. Parents note that he is not communicative with other children or adults and consistently avoids eye contact. He is frequently irritable and hyperactive at home.
A simple blood test confirmed that Mohit was having Fragile–X Syndrome.
The diagnosis of Fragile X syndrome is suspected in males and females with otherwise unexplained developmental delay or mental retardation. Certain behavioral features (hyperactivity, social anxiety, perseverative speech) increase concern for Fragile–X Syndrome.
Cause
Fragile–X is caused by an abnormality in the X chromosome, a copy of which is present in all individuals. Boys are usually more severely affected by the syndrome, as they have only one X chromosome. Girls have a second X chromosome, which can be used instead of the faulty one, and may have only mild disabilities. They may not exhibit any symptoms and may be carriers of the condition.
Symptoms
Individuals with Fragile X syndrome have normal growth, appearance, and birth. However, developmental milestones are typically delayed, particularly speech development. Between the toddler and preschool years, certain behaviors may become noticeable, such as hyperactivity, short attention span, and autistic-like behaviours (difficulty adjusting to change, poor eye contact, hand biting or flapping, hypersensitivity to sound or light); also, anxiety and mood swings.
Affected males may have characteristic facial features such as a large head circumference, long face, prominent forehead, large ears, and prominent jaw. But these features are not always presented in young children with Fragile X syndrome. Females can have similar physical and behavioural characteristics, but typically have milder involvement.
Fragile X affects females in some different ways. About 16 to 19 per cent of females who are normal carriers experience premature ovarian failure (POF); meaning their ovarian function stops before normal menopause, sometimes well before the age of 40. Some may experience POF as early as their mid-twenties. POF affects a woman's ability to get pregnant.
Occurrence
Fragile X syndrome is seen in approximately one in 1,200 males and one in 2,500 females. Fragile X appears in families of every ethnic group and income level.
Pre-natal testing is indicated to test the unborn baby if the mother has been confirmed to be a carrier. Experts inform parents of the chances of having an infant with abnormalities. They DO NOT try to convince or advise the parents to terminate the baby as it is not life threatening. Also termination is not recommended as the scope and availability of therapies minimizes the need for the same.
A number of tests are used to diagnose Fragile X. Each test has its limitations, so in many cases more than one test may be used. The most common tests are Chromosome Studies. DNA studies being sensitive can also pick up carriers. The two main DNA tests include Polymerase Chain Reaction (PCR) and Southern Blot Analysis.
However, a comprehensive genetic evaluation (including routine Cytogenetic analysis) is critical since it can also pick up other chromosome abnormalities besides Fragile X mutations in individuals referred with developmental delays.
Benefits of testing
A diagnosis of Fragile X Syndrome has important implications for the patient and his family, providing them with:
1. An explanation for child’s developmental delay
2. Prognostic information. The diagnosis of Fragile X Syndrome helps the family to understand that the subject will have permanent disability rather than to hope unrealistically that he will recover from his "delay."
3. Access to educational and/or social services. Information about genetic risks for other family members, who could consider molecular genetic testing.
4. Information to the family about their future reproductive risk as well as risk to other family members.
Doctor’s guide and counsel parents to cope up and inform the options available. They also provide detailed explanation if the awareness level is low.
Inheritance of Fragile X Syndrome is complex; parents of an affected child are likely to benefit from genetic counselling before pursuing testing. Genetic counselling would provide them with the opportunity to learn about Fragile X Syndrome as well as about testing options available to them. In addition to considering recurrence risk for the parents, genetic counselling would include the implications of a Fragile X syndrome diagnosis for other family members, particularly those of reproductive age.
Finding out that a child has a condition associated with serious learning problems can be difficult for parents, especially when the cause of the problem is hereditary. The mother will learn that the child’s problems are a result of a gene inherited from her, and she may feel guilty, or her husband and/or his family may blame her. Counselling can help in overcoming this feeling of guilt.
Cure
As yet there are no specific treatments or a cure for Fragile X, but emotional and educational support for children and their families are vital to help them reach their best potential. To date research continues and knowledge about Fragile X and its characteristics grows.
Interventions
Care for Fragile X Syndrome consists of special education, occupational therapy, and speech therapy. One important factor in developing a child's long-term potential is early intervention. The sooner a child begins to get help, the more opportunity for learning. Because a young child's brain is still forming, early intervention gives children the best start possible and the best chance of developing their full potential. Even so, no matter when a person is diagnosed with Fragile X, it's never too late to benefit from treatment.
Any child (male or female) with delay of speech, language, or motor development of unknown etiology should be considered for Fragile X Syndrome testing, especially in the presence of a positive family history of mental retardation, a consistent physical and behavioral phenotype, and absence of structural abnormalities of the brain or other birth defects.
Currently, though there is no definitive, single treatment for Fragile X, there are a variety of ways to help minimize the symptoms of the condition. Children with Fragile X who receive appropriate education, behavioral or physical therapy, and medication have the best chance of using their individual capabilities and skills. Even those with significant mental retardation can learn to master many self-help skills.
No matter what their IQ or areas of intelligence, all children and adults with Fragile X are capable of learning. Most children will progress in school and develop basic academic skills. Many adults can learn to take care of themselves and work at a job. People with Fragile X may need more time to learn, special teaching methods, or a specially tailored environment, but they usually can and do make steady progress.
SUGGESTIONS FOR WORKING WITH INDIVIDUALS WITH FRAGILE X:
· Know the learning style of the individual.
· Develop a consistent daily schedule or routine.
· Use visual signs (pictures, sign language, logos, words) and concrete examples or materials to present ideas, concepts, steps, etc.
· Prepare the individual for any changes in routine by explaining them ahead of time, possibly using visual signs.
· Include functional goals with academic goals; for instance, teaching the individual the names of different pieces of clothing as well as how to dress him/herself.
· Provide opportunities for the child to be active and move around.
· Use computers and interactive educational software.
· Provide a quiet place where the child can retreat and regroup
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IF I FIND OUT SOMEONE IN MY FAMILY HAS FRAGILE X SYNDROME?
· If someone in your family, a child or an adult, is diagnosed with Fragile X, you may also want to be tested to see if you have a mutated FMR1 gene. It is now possible to test for Fragile X in people of any age, as well as before birth. These tests are simple and accurate.
· At present, testing for Fragile X is not done routinely. The tests are often done to help diagnose a child who is developmentally delayed or shows signs of autism or mental retardation. Couples who have one or more relatives with mental retardation of unknown cause may also want to be evaluated before deciding to have a child.
· An evaluation for Fragile X may also be recommended in a person with one of the following traits:
o Any person who has mental retardation of unknown cause, developmental delay, or learning disability
o Any person with autism or showing autism-like behaviors
o Any person with a relative who has Fragile X or mental retardation of unknown cause
o Women with premature ovarian failure (POF) or with a family history of POF.
Metropolis Health Services (I) Ltd. was founded by Dr. Sushil Shah in 1981. India’s first corporate diagnostic centers chain with global presence like Srilanka, UAE, South Africa,
1 comment:
Nice Educative Post...
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