Fragile X syndrome is a common cause of inherited mental retardation and is the second most common cause of genetically associated mental deficiencies after trisomy 21.
Fragile X syndrome occurs because the mutated gene cannot produce enough of a protein that is needed by the body’s cells, especially cells in the brain, to develop and function normally.
More than 80 percent of males with Fragile X have an IQ (intelligence quotient) of 75 or less.
In 1943, Martin and Bell investigated a family with multiple male members who had mental retardation. They were able to link the cognitive disorders to an unidentified mode of X-linked inheritance.
Who Are At Risk ?
Fragile X syndrome is an inherited disorder and is present at birth.
Females carry the gene abnormality 2-4 times more often than males.The pattern of inheritance most closely resembles X-linked dominance with variable penetrance.
• Fragile X is a change in a single gene, the Fragile X Mental Retardation 1 (FMR1) gene, which is found on the X chromosome.
• Down syndrome
• Repeat in a genetic code
PKU ( phenylketonuria )
During Pregnancy -excessive use of alcohol, exposure to poisons in the environment, and diseases such as rubella.
Genes contain the information used by other parts of a cell to make proteins. Proteins are the body’s building blocks. Each protein performs a specific job. They make up the structure of your organs and tissues and are needed for all of your body’s chemical functions.
Each gene contains information for making at least one protein. If this information is changed, then the cell may not be able to make that protein, or it may not be able to make a form of the protein that the body can use. Fragile X occurs because the FMR1 gene is unable to make normal amounts of usable Fragile X Mental Retardation Protein or FMRP.
The amount of FMRP in the body is one factor that determines how severe the effects of having Fragile X are. A person with nearly normal levels of FMRP usually has mild or no symptoms, while a person with very little or no normal FMRP has more severe symptoms.
• Elongated face, large/protruding ears (one or both)
• Low muscle tone ( hypotonic )
• Flat feet, soft skin
• Middle ear infections
• Stereotypic movement (hand –flapping)
• Limited eye contact
• Memory problems
• Large testes in men after puberty
• Social anxiety
• ADHD in the majority of males
• Lazy eye ( strabismus )
• High risk of seizures
• IQ ( intelligence quotient )
• Neuropsychological history
• Family, developmental, cognitive, and neuropsychological histories
• Screening and diagnosis in utero or during infancy
• The first year of life, delays in speech and language are notable, and fine motor skills are impaired.
• Expressive language ability, short-term memory, and attempts at problem-solving are significantly impaired.
• Intelligence quotient (IQ) frequently indicates mild-to-severe mental retardation (20-70).
• Patients have many neuropsychological features, including depression, general and separation anxiety, and oppositional defiant disorder.
• Genetic counseling is important to inform patients and families.
• Speech and language therapist
• Occupational and physical therapist
• Special education professional: Consultation with a special education professional is appropriate to assess the level of cognitive functioning, attention deficit hyperactivity disorder (ADHD) symptoms, and aggressiveness and to initiate sensory integration therapy for behavior problems.
• Neurologist: Consult a neurologist if seizures persist.
• Ophthalmologist: An ophthalmologic referral is important for patients with strabismus.
• Folic acid supplementation
• Trials of medications, such as fenobam, that act as mGluR5 antagonists are underway.
There is no shortening of life expectancy
• Shy, timid and easily embarrassed
• Blush easily, dread the company of unfamiliar people
• Anxious about what people think of them and wanted to be left alone
• Forgetful and dreamy, they may also jump from one subject to another
• Confusion of personal identity
• Time passes too slowly, sense of unreality
• Senility, unable to think clearly, irresolute with alternating moods
• Timid and dependent en defiant, fastidious, sense of guilt.
• Fear insanity, worse if must hurry, morning. Better as the day goes on
• Weak memory, forgets names, people, events, things are seen or even roads
• Indecisive, feels like two wills warring inside one good, one evil.
• Senility, confusion, absentmindedness, weak senses, dream-like states
• Cruel, malicious and abusive, cursing, suspicious, fear insanity
• Loss of confidence attempts to prove oneself, eventually apathetic
• Disorientation, parts of the body feels as if floating.
• Forgetful, often unable to finish a sentence and has a fear of losing control and of insanity
• Confused and lose their way even in well-known streets.
• Weak memory, wrong words, omits or cannot find words syllables, misspells words.
• Slow speech, difficult to express, loss their direction
• Cannot concentrate, foggy, dull, vanishing thoughts, aversion to people
• Time seems too short or long.
• Hurried, irritable, self-hatred feels ugly
• Fixation or fanatic ideas.
• Body feels fragile as if body and mind separated.
• Special education is needed for patients with fragile X syndrome
• Behavioural therapy and speech therapy helps in leading easy life
• Genetic counseling helps
• Prophylactic treatment is suggest such as antidepressants, stimulants, anticonvulsants and antipsychotics
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