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What are some organization that can help a family cope with a childs disorder

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What are some organization that can help a family cope with a childs disorder

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The largest organization for Fragile X syndrome is the National Fragile X Foundation. The Nation Foundation raises money for finding a cure for x syndrome the FRAAA Research Foundation has provided over 21 million to help fund a research for treatment. (Fraxa.org) The Fragile X Registry is a database for people who want to be notified about fragile X research studies. (fragileregistry.org)

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Frontpage - National Fragile X Foundation

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How possible is it that a cure will be found?

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How possible is it that a cure will be found?

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There is currently not a cure for Fragile X syndrome, even though research is being done to find one. But hopefully a cure will be found soon.

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A specific genetic test (PCR) can now be performed to diagnose fragile x syndrome. This test looks for an expanded mutation in the FMR1 gene.

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What are the chances of a person with this disease passing the disease to their offspring?

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What are the chances of a person with this disease passing the disease to their offspring?

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With each pregnancy, women have a 50% chance of passing fragile x onto their child (son or daughter).

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Some limitations that people with fragile x syndrome have are delays in learning,speech and communication skills.Also they may have some behaviroral problems and social problems which could affect their social life.

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How prevalent is the disease in the population?

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How prevalent is the disease in the population?

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Fragile x affects 1 in 4000 males and 1 in 6000 females of all races and ethnic groups. About 1 in 259 women carry fragile x and could pass it to their children.

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What is everyday life like?What is the quality of life?

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What is everyday life like?What is the quality of life?

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Everyday life is fine for people with fragile x syndrome however there are many difficulties for people who have it.Some difficulties in their life are learning because it might take the longer to understand.Also they might have mood changes and sometimes they stutter because speech is hard for them

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What are the possible genotypes of the parents?

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What are the possible genotypes of the parents?

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If the genotype is FF then there is a 0% chance that the child will have fragile x syndrome. If the genotype is Ff then there is a 50% chance, same thing goes with ff.

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Fragile x syndrome cannot be treated, however there are many areas of treatment that can improve the lives of the affected people.They can qualify for special education services and a variety of therapies.

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Fragile X syndrome is inherited in an X-linked dominant pattern from your parents. A condition is considered x-linked if the mutated gene that causes the disorder is located on the x chromosomes, one of the two sex chromosomes.

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What is the life expectancy of someone with disease?

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What is the life expectancy of someone with disease?

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The life expectancy of someone with fragile x syndrome is ranged from 5 to 25 years when the symptoms begin.

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What are the physical symptoms of the disease?

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What are the physical symptoms of the disease?

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The symptoms of fragile x syndrome are learning disabilities, also they have a larger fore head and larger ears.They also have mood changes.Another symptom of fragile x syndrome is problems with speech and language also some children with fragile x syndrome are bothered by certain sensations.

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http://syndromepictures.com/fragile-x-syndrome-pictures/
Introduction

Fragile X Syndrome (FXS) is an X-linked disorder primarily characterized by mild to moderate mental retardation, cognitive and behavioral issues, and a characteristic appearance. It is the most common inherited cause of both mental retardation and autism.

Genetics

FXS is caused by an unstable trinucleotide repeat (CGG) at the FMR1 (familial mental retardation) gene locus on the long arm of the X chromosome. This trinucleotide repeat leads to hypermethylation of a CpG island which silences the FMR1 gene. Depending on the amount of methylation, the fragile X mental retardation protein (FMRP) is decreased or absent. In normal individuals, FMRP negatively regulates protein synthesis and is involved in neural synapse maturation.

Normal unaffected individuals have between 5 to 50 CGG triplet repeats in the FMR1 promoter region. Patients with the full mutation have >200 CGG trinucleotide repeats and Fragile X Syndrome. However a third group with 50-200 repeats have a premutation, which can result in premature ovarian failure or Fragile X associated Tremor/Ataxia (intention tremor, cerebellar ataxia, autonomic dysfunction, parkonsonism).

The full mutation has a frequency of 1 in 3,600 in males and 1 in 6,000 in females. The premutation has a frequency of 1 in 250-800 in males and 1 in 100-260 in females.

Men pass on the gene to all of their daughters, but there is no expansion of the repeat in transmission. Women have a 50% chance of passing the gene on to each of their children which can result in an expansion of the repeat. The risk of a premutation expanding to a full mutation in transmission increases linearly with maternal repeat size.

There is a wide phenotypic range from mild to very severe mental retardation; generally, males are more severely affected than females. These phenotypic variations can result from mosaicism for the size of the repeat, the degree of methylation of the gene, and/or lyonization in females. The number of affected family members usually increases with successive generations.

Depiction of the FRM1 gene and impact of the trinucleotide repeat on gene methylation. Image from http://www.fragilex.org/wp-content/uploads/2012/01/FMR1-Gene-Categories.png
Neurocognitive abnormalities
Clinical Features
Anatomic abnormalities:
Fragile X Syndrome should be tested for in any child presenting with developmental delay, hypotonia or autism.

1. Mental retardation: Affected males: IQs average 30-50; females have IQs in the 70s

2. Developmental delay in childhood

3. Autism or Autism-like features: perseverative speech, repetitive chewing, hand flapping, poor eye contact, shyness and intolerance of change

4. Attention deficit-hyperactivity disorder: associated with poor attention and increased activity

5. Speech and language problems, particularly mathematics abilities, visuospatial abilities, attention and executive function, and visual-motor coordination

6. Decline in cognitive level and adaptive behavior skills after early childhood: prepubertal boys generally have higher IQs than adolescents and adults.

1. Characteristic facies: Long and narrow face, prominent forehead and chin, large ears

2. Macrocephaly: associated with underlying structural abnormalities in the brain

3. Macro-orchidism: volume >25mL after puberty with normal testicular function

4. Mitral Valve Prolapse

5. Joint abnormalities: finger laxity, scoliosis, congenital hip dysplasia

6. Patent Eustacian Tube: chronic otitis media

7. Obesity: subgroup with "Prader-Willi phenotype" of FXS

Characteristic phenotype of Fragile X Syndrome. Image from http://upload.wikimedia.org/wikipedia/commons/b/b3/Fragile_x_syndrom.png

Diagnosis

Initially, Fragile X syndrome was diagnosed by karyotyping cells in a folate-deficient medium to look for the fragile site on the X chromosome (thus leading to the disease's name). The current gold standard for diagnosis is either PCR or Southern blot analysis.

There have been pilot studies for inclusion of Fragile X syndrome in newborn screening, however it is not currently included. There is also a commercial test available for screening women prior to pregnancy. It can also be detected by amniocentesis or chorionic villus sampling.

Following diagnosis, genetic counseling should be initiated and family members should be offered testing.

Treatment

Currently, treatment is symptomatic. Individuals diagnosed with FXS should be provided with special educational services to meet their specific cognitive disabilities, PT/OT and consultation with a speech/language pathologist. Seizures should be controlled with carbamazepine or valproic acid. FXS patients may also require referral to a child psychiatrist for treatment of ADHD, either with methylphenidate or clonidine and guanfacine. SSRIs can be used to treat anxiety, risperidone can be used for agression and low dose aripiprazole for behavioral problems.

As more has been learned about the biochemical pathways FRMP is involved in, new therapeutic targets have been identified. Pilot studies and small RCTs have shown promising results in mGluR5 (metabotrophic glutamate receptor 5) antagonists, Lithium (involved in mGluR5 signaling) and GABA agonists, but more trials are needed.

Additionally, women with a child or a family history of Fragile X should be evaluated for carrier status and may undergo pre-implantation or prenatal genetic testing.
Back to Table of Contents
References

1. Phalen, James A. Fragile X Syndrome. Pediatrics in Reivew. 26: 181-182. 2005.

2. Hersh, Joseph H. et al. Health Supervision for Children with Fragile X Syndrome. Pediatrics. 127: 984-1005. 2011.

3. Hagerman, Randi J. et al. Advances n the Treatment of Fragile X Syndrome. 123: 378-385. 2009.

4. Wenstrom, K. D. Fragile X and Other Trinucleotide Repeat Diseases. Obstetrics and Gynecology Clinics of North America. 29: 1367-1376. 2002.

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http://syndromepictures.com/fragile-x-syndrome-pictures/ Fragile X Syndrome (FXS) is an X-linked disorder primarily characterized by mild to moderate mental retardation, cognitive and behavioral issues, and a characteristic appearance. It is the most common inherited cause of both mental retardation and autism.