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  • Developmental Delay (DD) or Intellectual Disability (ID) Testing Algorithm

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    Neo Mervyn Monaheng
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    This document provides guidance on testing for developmental delay or intellectual disability. It recommends ordering a Fragile X test for males presenting with neurocognitive dysfunction. It lists risk factors that increase the likelihood of a genetic cause. Initial testing should include a cytogenomic SNP microarray to detect most developmental delay syndromes. Additional single-gene testing is available for conditions like Rett syndrome, Angelman syndrome, and X-linked intellectual disability depending on clinical findings. The evaluation involves identifying risk factors, neurological exam findings, and imaging before determining appropriate genetic testing.

    Originalbeschreibung:

    Developmental Delay Diagnostic Algorithm

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    This document provides guidance on testing for developmental delay or intellectual disability. It recommends ordering a Fragile X test for males presenting with neurocognitive dysfunction. It lists risk factors that increase the likelihood of a genetic cause. Initial testing should include a cytogenomic SNP microarray to detect most developmental delay syndromes. Additional single-gene testing is available for conditions like Rett syndrome, Angelman syndrome, and X-linked intellectual disability depending on clinical findings. The evaluation involves identifying risk factors, neurological exam findings, and imaging before determining appropriate genetic testing.

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    57 Ansichten1 Seite

    Developmental Delay (DD) or Intellectual Disability (ID) Testing Algorithm

    Hochgeladen von

    Neo Mervyn Monaheng
    This document provides guidance on testing for developmental delay or intellectual disability. It recommends ordering a Fragile X test for males presenting with neurocognitive dysfunction. It lists risk factors that increase the likelihood of a genetic cause. Initial testing should include a cytogenomic SNP microarray to detect most developmental delay syndromes. Additional single-gene testing is available for conditions like Rett syndrome, Angelman syndrome, and X-linked intellectual disability depending on clinical findings. The evaluation involves identifying risk factors, neurological exam findings, and imaging before determining appropriate genetic testing.

    Copyright:

    © All Rights Reserved
    Als PDF, TXT herunterladen oder online auf Scribd lesen
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    von 1

    Developmental Delay (DD) or

    Intellectual Disability (ID) Testing


    Click here for topics associated with this algorithm

    IF male with neurocognitive dysfunction


    ORDER
    Fragile X (FMR1) with Reflex to
    Methylation Analysis

    RISK FACTORS
    Family history of genetic disorders/ID
    Neurocognitive dysfunction
    Cerebral palsy and static encephalopathy
    Hypotonia
    Seizure disorder
    Birth defects (eg, cardiac defect, cleft palate, club feet)
    Growth abnormalities
    Nonfamilial dysmorphic features
    Family history of recurrent miscarriages

    Note: test more likely to be positive in


    the following cases:
    Physical features characteristic of
    Fragile X
    Family history supportive of Xlinked ID
    Maternal family history of
    premature ovarian failure, ataxia
    and/or tumor

    Evaluation for DD/ID


    Identify family history of risk factors

    Family history of metabolic


    disorder
    Sufficient minor or major dysmorphic (atypical) features

    Episodic deterioration
    Yes

    No

    No

    Yes

    Metabolic testing
    Refer for metabolic consult
    Refer for
    genetics
    consultation

    Presence of
    Microcephaly
    Macrocephaly
    Focal findings on
    neurologic exam
    Cerebral palsy
    Hypotonia
    Seizures
    Autism/ASD

    Yes

    Order
    MRI/CT

    Negative

    No

    May want to consider


    Cytogenetic and/or
    molecular testing
    based on clinical
    presentation
    Genetics
    consultation

    Cytogenomic SNP Microarray or Cytogenomic SNP Microarray Buccal


    Swab first line testing for most developmental delay syndromes
    OR
    Cytogenomic SNP Microarray with Five-Cell Chromosome Study,
    Peripheral Blood useful if chromosome and array tests would
    otherwise have been ordered concurrently
    OTHER AVAILABLE TESTING
    X Chromosome Ultra-High Density Microarray (consider this test if FMR1
    testing is negative)
    Chromosome Analysis, Peripheral Blood
    Chromosome FISH, Metaphase
    Fragile X (FMR1) with Reflex to Methylation Analysis
    Rett Syndrome (MECP2), Sequencing and Deletion/Duplication
    Rett Syndrome (MECP2), Full Gene Sequencing
    Rett Syndrome (MECP2), Deletion and Duplication
    Angelman Syndrome and Prader-Willi Syndrome by Methylation-Sensitive
    PCR
    Angelman Syndrome (UBE3A) Sequencing
    Angelman Syndrome and Prader-Willi Syndrome by Methylation-Sensitive
    PCR, Fetal
    CDKL5-Related Disorders (CDKL5) Sequencing and Deletion/Duplication
    CDKL5-Related Disorders (CDKL5) Sequencing
    CDKL5-Related Disorders (CDKL5) Deletion/Duplication
    PTEN-Related Disorders (PTEN) Sequencing and Deletion/Duplication
    X-Linked Intellectual Disability Panel, Sequencing, 76 Genes
    Abnormal

    Genetics consultation
    Treat symptomatically

    2006 ARUP Laboratories. All Rights Reserved. 01/22/2014

    www.arupconsult.com

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