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  • Fragile X

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    Fragile X syndrome is a genetic disorder caused by an abnormal expansion of the CGG trinucleotide repeat in the FMR1 gene located on the X chromosome. It is the most common inherited cause of intellectual disability and developmental disabilities. Males are typically more severely affected than females. Characteristics include various levels of intellectual disabilities, distinctive physical features, and behavioral/emotional problems such as autism, ADHD, and anxiety. Diagnosis can be made via genetic testing. There is no cure, but symptoms can be managed through educational support, behavioral therapies, and medication depending on the specific issues.

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    Fragile X syndrome is a genetic disorder caused by an abnormal expansion of the CGG trinucleotide repeat in the FMR1 gene located on the X chromosome. It is the most common inherited cause of intellectual disability and developmental disabilities. Males are typically more severely affected than females. Characteristics include various levels of intellectual disabilities, distinctive physical features, and behavioral/emotional problems such as autism, ADHD, and anxiety. Diagnosis can be made via genetic testing. There is no cure, but symptoms can be managed through educational support, behavioral therapies, and medication depending on the specific issues.

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    28 visualizzazioni10 pagine

    Fragile X

    Caricato da

    ryan20e
    Fragile X syndrome is a genetic disorder caused by an abnormal expansion of the CGG trinucleotide repeat in the FMR1 gene located on the X chromosome. It is the most common inherited cause of intellectual disability and developmental disabilities. Males are typically more severely affected than females. Characteristics include various levels of intellectual disabilities, distinctive physical features, and behavioral/emotional problems such as autism, ADHD, and anxiety. Diagnosis can be made via genetic testing. There is no cure, but symptoms can be managed through educational support, behavioral therapies, and medication depending on the specific issues.

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    di 10

    FRAGILE X SYNDROME

    (Martin-Bell’s Syndrome)

    Epriyan Saputra
    Dept. IKA FK Undip-RSUP Dr. Kariadi Semarang
    Overview
    • Fragile X Syndrome 
    genetic disease inherited
    through the X chromosome,
    caused by an abnormal
    expansion in the number of
    the trinucleotide CGG
    repeats located in the
    fragile X mental retardation
    1 gene (FMR1) at Xq27.3
    • X-linked dominant
    • Males > Females (1:2500-
    4000 vs 1:7000-8000)
    • Lead to cognitive and
    Intellectual disability

    Saldarriaga W/et al/Colombia Médica - Vol. 45 Nº4 2014 (Oct-Dec)


    FMR1 (Fragile X-Mental Retardation 1)

    FMR 1

    FMR 1
    Proteins

    Brain Synapse Glutamat


    Develop Plasticity Reseptor

    https://www.youtube.com/watch?v=auIwEV1SiBQ
    <45 CGG : Normal
    45-54 CGG : Grey Zone/Borderline
    55-200 CGG : Premutation
    >200 CGG : Full Mutation
    Slide Title
    • Feature 1 • • Product
    Feature 1 B
    • Feature 2 • Feature 2
    • Feature 3 • Feature 3
    Clinical Features

    Cognitive/Behavioral Craniofacial (60%)


    1. Mental Retardation (Average IQ 40) 1. Large, Protruding Ears
    2. Autism (20-30%) 2. Elongated Face/forehead
    3. ADHD (80%) 3. High arched palate
    4. Anxiety esp. Social (70-100%)
    Endocrine
    1. Macro-orchidism
    Connective Tissue
    1. MVP (Mitral Valve Prolaps) Neurological
    2. Joint Laxity 1. Seizure (20%)
    3. Pes Planus 2. Strabismus (8-30%)
    4. Scoliosis 3. Hypotonia
    DIAGNOSIS

    Diagnose 1. Prenatally, Via amniotic


    fluid
    Fragile
    2. Postnatally, Via blood
    X Syndome

    Molecular Fragile X –
    related
    1. FXPOI
    2. FXTAS
    Analysis Disorder

    Carrier
    Status

    Upon diagnosis patients should sreened for


    heart defect (Commonly MVP)
    Saldarriaga W/et al/Colombia Médica - Vol. 45 Nº4 2014 (Oct-Dec)
    DIFFRENTIAL DIAGNOSIS

    Saldarriaga W/et al/Colombia Médica - Vol. 45 Nº4 2014 (Oct-Dec)


    Management
    • There is no cure for Fragile X Syndrome,
    management is based on symptoms
    – Cognitif deficits – OT, speech therapy,
    special ed support
    – Seizure disorder – Valproate,
    carbamazepine
    – ADHD – Stimulants (methylpenidate)
    – Anxiety – SSRIs(fluoxetine), behavioural
    therapy
    – Aggressive outburst – Atypical
    antipsychotics (Aripiprazole, rispiridone)

    • Parents should see a genetic counselor and


    family member should informed/screened
    THANK YOU

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