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

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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Neo Mervyn Monaheng
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115 views

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

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.

Uploaded by

Neo Mervyn Monaheng
Copyright
© © All Rights Reserved
Available Formats
Download as PDF, TXT or read online on Scribd
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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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