What is Fragile X Syndrome?
Fragile X syndrome is the most common cause of inherited mental retardation.
It 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
Who is at risk of getting affected by Fragile X syndrome?
Fragile X syndrome is an inherited disorder which is present at the time of birth.
Females carry the gene abnormality 2-4 times more often than males. The pattern of inheritance most closely resembles X-linked dominance.
What are the causes of Fragile X syndrome?
• Fragile X is a change in a single gene called the Fragile X Mental Retardation 1 (FMR1) gene, usually found on 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.
What are the signs and symptoms of Fragile X syndrome?
• Elongated face, large/protruding ears (one or both)
• Low muscle tone ( hypotonic )
• Flat feet, soft skin
• Middle ear infections
• Sinusitis
• Stereotypic movement (hand –flapping)
• Limited eye contact
• Memory problems
• Large testes in men after puberty
• Social anxiety
• ADHD in the majority of males
• Hyperactivity
• Lazy eye ( strabismus )
• High risk of seizures
What investigations are advised for Fragile X syndrome?
• IQ ( intelligence quotient )
• Neuropsychological history
• Family, developmental, cognitive, and neuropsychological histories
• Screening and diagnosis in utero or during infancy
• Delayed Milestones in the first year of life, like delays in speech and language, are notable, and impairment of fine motor skills.
• Impairment of Language Expressive ability, short-term memory, and problem-solving skills.
• Patient’s (IQ) also is an indicator of the presence of mental retardation (20-70) which could be mild-to-severe
• Patients have many neuropsychological features, including depression, general and separation anxiety, and oppositional defiant disorder.
What is the differential diagnosis of Fragile X syndrome?
• ADHD
• Asperger Syndrome
• Marfan Syndrome
• PDD (Pervasive Developmental Disorder)
• PDD (Rett Syndrome)
What treatment is advised in cases of Fragile X syndrome?
• Genetic counselling is important to inform patients and families.
• Speech and language therapist
• Occupational and physical therapist
• Special education professional behavior problems.
• Neurologist: Consult a neurologist if seizures persist.
•An ophthalmologist’s opinion is important for cases affected by strabismus.
• Gastroenterologist
• Folic acid supplementation
• New medication trials, such as fenobam, that act as mGluR5 antagonists are still in process.
What is the prognosis for Fragile X syndrome?
There is no shortening of life expectancy
What are commonly indicated Homeopathic remedies for Fragile X syndrome?
• Ambra grisea
• Alumina
• Anacardium orientale
• Cannabis indica
• Thuja
What is dietary advice for patients suffering from Fragile X syndrome?
• Special education is needed for patients with fragile X syndrome
• Behavioral therapy and speech therapy help in leading an easy life
• Genetic counseling helps
• Prophylactic treatment is suggested such as anti-depressants, stimulants, anti-convulsants, and anti-psychotics
