| Fragile X - What is fragile X - fragile X behaviors. Bright Tots - Information on child development - Autism information. |
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| Fragile X |
Fragile X Syndrome is a genetic defect. It is the absence of a functional fragile X gene (FMR1) that shuts down the production of a special protein in the brain needed for normal cognitive development. Without this protein, children with the syndrome will never learn normally, despite hours of therapy and rehabilitation. Fragile X syndrome is a hereditary disorder which causes a wide range of mental impairment, from mild learning disabilities to severe mental retardation. Fragile X syndrome is the leading hereditary cause of developmental disabilities. In addition to mental impairment, fragile X syndrome is associated with a number of physical and behavioral characteristics.
In 1991, scientist discovered the gene called (FMR1) which causes Fragile X. Fragile X Syndrome, a defect in which the absence of a functional fragile X gene (FMR1) shuts off production of a special protein in the brain needed for normal cognitive development. Cognitive development is defined as thinking, problem solving, concept understanding, information processing and overall intelligence. Without this protein, children with the syndrome will never learn normally, despite hours of therapy and rehabilitation.
The exact frequency of Fragile X is unknown. The full mutation appears in approximately 1 in 2000 males and 1 in 4000 to 6000 females. The carrier, usually a transmitting male, passes the pre-mutation gene (FMR1) to all their daughters, but none of their sons. Females are also be affected, approximately 30% of females with full mutations are mentally retarded, and their level of retardation is, on average, less severe than that seen in males. Approximately one third of female carriers of full mutation gene (FMR1) will have mild to moderate mental disabilities. Each child of a carrier woman has a 50% chance of inheriting the gene. The Fragile X pre-mutation gene can be passed silently down through generations in a family before the syndrome affects one child. A DNA blood test identifies both carriers and affected individuals.
Some of these children may have certain facial features which include everted ears and elongated faces. Behaviors may include hyperactivity and autistic characteristics may be present. Such as chewing on skin, clothing, or objects, which may be connected to sensory processing problems and anxiety.
Sensory processing problems may manifest themselves as tactile defensiveness, such as oral motor defensiveness, sensitivity to sound or light, and poor eye contact. About 90% of boys with fragile X syndrome are reported to have some type of sensory defensiveness. Tantrums may be a result of anxiety and a feeling of being overwhelmed. Crowds and new situations may cause boys to whine, cry, or misbehave, in attempts to get out of the overwhelming settings.
Like many developmental disorders such as autism, Fragile X syndrome include all ranges of impairment from profound mental retardation (MR) to mild learning difficulties, as well as developmental delays, autistic-like behavior, hyperactivity and other behavior disturbances.
The poor eye contact and difficulty sustaining a conversation can cause many social weaknesses. Perseverative speech and self-talk may be symptoms of anxiety.
Some behaviors that overlap with the diagnosis of autism are often reported. The majority of children with fragile X syndrome do not have all the characteristics of autism, but about 15% to 33% are diagnosed as autistic. More often, children have "autistic-like" features, such as poor eye contact, hand flapping, and poor social skills.
Girls with the full mutation of the fragile X gene appear to have some specific areas of concern in the area of behavioral and emotional difficulties. Shyness, anxiety, depression and difficulties with social contacts are most often mentioned as characteristics of girls with fragile X.
Some behaviors include:
• Mental retardation
• Hyperactivity
• Short attention span
• Tactile defensive / touch sensitivity
• Hand-flapping
• Hand-biting
• Poor eye contact
• Repetitive Speech
• Double Jointed
• Large or prominent ears
• Large testicles
• Simian crease - a single horizontal crease on the palm instead of the usual two
What is the Fragile X gene (FMR1)?
The FMR-1 gene is located on the X chromosome. This gene is responsible for instructing the cell to make FMRP, a protein assumed to be essential for normal brain functioning.
Fragile X is the leading form of autism: 90 % of Fragile X patients have autistic features, 50% of pre-school Fragile X children meet autism diagnostic criteria, and 6% of all autistic individuals turn out to have fragile X. Fragile X also gives rise to anxiety disorders, attention deficit hyperactivity disorder, psychosis, obsessive-compulsive disorder, and many other problems.
A Cure for Fragile X?
There is currently no cure for Fragile X Syndrome, although appropriate education and medications can help maximize the learning potential of each child. However, most boys and many girls remain significantly affected throughout their lives. The need for treatment and special education are significant. The need for research aimed at treatment is urgent.
Recent significant progress has been made in understanding mechanisms and developing potential treatments for inherited diseases that are caused by a single gene, such as Fragile X.
Current medical research focuses on: Gene Therapy - studying the gene that causes Fragile X in order to determine whether a healthy gene may be inserted into the cells of affected individuals, thereby replacing the mutated, ineffective gene.
Protein Replacement Therapy - studying the protein product that is lacking due to the mutation, in hopes that the protein may be supplemented from an external source.
Psychopharmacology - treating the symptoms of the disorder with medications.
Many researchers believe that medical treatment, when it becomes available, will be able to help Fragile X individuals of all ages. Experts think that the missing FMR protein has a regulatory function in the brain, rather than a structural function, and that this protein is needed throughout a person's life.
In 1991, scientist discovered the gene called (FMR1) which causes Fragile X. Fragile X Syndrome, a defect in which the absence of a functional fragile X gene (FMR1) shuts off production of a special protein in the brain needed for normal cognitive development. Cognitive development is defined as thinking, problem solving, concept understanding, information processing and overall intelligence. Without this protein, children with the syndrome will never learn normally, despite hours of therapy and rehabilitation.
The exact frequency of Fragile X is unknown. The full mutation appears in approximately 1 in 2000 males and 1 in 4000 to 6000 females. The carrier, usually a transmitting male, passes the pre-mutation gene (FMR1) to all their daughters, but none of their sons. Females are also be affected, approximately 30% of females with full mutations are mentally retarded, and their level of retardation is, on average, less severe than that seen in males. Approximately one third of female carriers of full mutation gene (FMR1) will have mild to moderate mental disabilities. Each child of a carrier woman has a 50% chance of inheriting the gene. The Fragile X pre-mutation gene can be passed silently down through generations in a family before the syndrome affects one child. A DNA blood test identifies both carriers and affected individuals.
Some of these children may have certain facial features which include everted ears and elongated faces. Behaviors may include hyperactivity and autistic characteristics may be present. Such as chewing on skin, clothing, or objects, which may be connected to sensory processing problems and anxiety.
Sensory processing problems may manifest themselves as tactile defensiveness, such as oral motor defensiveness, sensitivity to sound or light, and poor eye contact. About 90% of boys with fragile X syndrome are reported to have some type of sensory defensiveness. Tantrums may be a result of anxiety and a feeling of being overwhelmed. Crowds and new situations may cause boys to whine, cry, or misbehave, in attempts to get out of the overwhelming settings.
Like many developmental disorders such as autism, Fragile X syndrome include all ranges of impairment from profound mental retardation (MR) to mild learning difficulties, as well as developmental delays, autistic-like behavior, hyperactivity and other behavior disturbances.
The poor eye contact and difficulty sustaining a conversation can cause many social weaknesses. Perseverative speech and self-talk may be symptoms of anxiety.
Some behaviors that overlap with the diagnosis of autism are often reported. The majority of children with fragile X syndrome do not have all the characteristics of autism, but about 15% to 33% are diagnosed as autistic. More often, children have "autistic-like" features, such as poor eye contact, hand flapping, and poor social skills.
Girls with the full mutation of the fragile X gene appear to have some specific areas of concern in the area of behavioral and emotional difficulties. Shyness, anxiety, depression and difficulties with social contacts are most often mentioned as characteristics of girls with fragile X.
Some behaviors include:
• Mental retardation
• Hyperactivity
• Short attention span
• Tactile defensive / touch sensitivity
• Hand-flapping
• Hand-biting
• Poor eye contact
• Repetitive Speech
• Double Jointed
• Large or prominent ears
• Large testicles
• Simian crease - a single horizontal crease on the palm instead of the usual two
What is the Fragile X gene (FMR1)?
The FMR-1 gene is located on the X chromosome. This gene is responsible for instructing the cell to make FMRP, a protein assumed to be essential for normal brain functioning.
Fragile X is the leading form of autism: 90 % of Fragile X patients have autistic features, 50% of pre-school Fragile X children meet autism diagnostic criteria, and 6% of all autistic individuals turn out to have fragile X. Fragile X also gives rise to anxiety disorders, attention deficit hyperactivity disorder, psychosis, obsessive-compulsive disorder, and many other problems.
A Cure for Fragile X?
There is currently no cure for Fragile X Syndrome, although appropriate education and medications can help maximize the learning potential of each child. However, most boys and many girls remain significantly affected throughout their lives. The need for treatment and special education are significant. The need for research aimed at treatment is urgent.
Recent significant progress has been made in understanding mechanisms and developing potential treatments for inherited diseases that are caused by a single gene, such as Fragile X.
Current medical research focuses on: Gene Therapy - studying the gene that causes Fragile X in order to determine whether a healthy gene may be inserted into the cells of affected individuals, thereby replacing the mutated, ineffective gene.
Protein Replacement Therapy - studying the protein product that is lacking due to the mutation, in hopes that the protein may be supplemented from an external source.
Psychopharmacology - treating the symptoms of the disorder with medications.
Many researchers believe that medical treatment, when it becomes available, will be able to help Fragile X individuals of all ages. Experts think that the missing FMR protein has a regulatory function in the brain, rather than a structural function, and that this protein is needed throughout a person's life.
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