Pervasive Developmental Disorder Workup

  • Author: Sufen Chiu, MD, PhD; Chief Editor: Caroly Pataki, MD   more...
 
Updated: Jun 7, 2011
 

Approach Considerations

If the history or physical findings suggest additional concerns, consider the following:

  • High-resolution cytogenic studies with fluorescence in situ hybridization (FISH) testing for Prader-Willi, Angelman, and Williams syndromes
  • Creatine phosphokinase measurement - To rule out muscular dystrophy
  • Determination of lead level - To rule out lead poisoning
  • Urine organic acid test
  • Plasma amino acid test
  • Lactate and/or pyruvate test - To rule out mitochondrial disorders
  • Serum ammonia test - To rule out urea cycle defects
  • Test for very long fatty acids - To rule out peroxisomal disorders
  • Test of thyroid-stimulating hormone - To rule out hypothyroidism
  • Gene sequencing for MECP2

Hearing testing

A hearing test should be administered.[24] A hearing test should be performed by a pediatric audiologist and should be repeated even if the test results were normal at birth. Testing of children usually requires the presence of 2 pediatric audiologists.

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DNA Testing and High-Resolution Cytogenetic Studies with FISH

Fragile-site mental retardation 1 gene (FMR1) deoxyribonucleic acid (DNA) testing for fragile X syndrome and premutation involvement is indicated.[13]

High-resolution cytogenetic studies with FISH are used to test for 15q duplication, which has been found in 3%-5% of individuals with autism.[4]

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Comparative Genomic Hybridization

Comparative genomic hybridization (CGH) is now often recommended to identify a greater number of subtle cytogenetic abnormalities in pervasive developmental disorder (PDD). Up to 20% of individuals with a PDD may have these slight abnormalities.[3]

Genetic testing should be considered, even if no obvious dysmorphic features are found in the physical examination. Many individuals with fragile X syndrome appear physically normal (see the image below).

Young child with fragile X syndrome who does not hYoung child with fragile X syndrome who does not have obvious dysmorphic features.
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Imaging Studies

Brain magnetic resonance imaging (MRI), but not head computed tomography (CT) scanning, may be helpful in the clinical assessment of global developmental delay, as the Practice Committee of the Child Neurology Society outlined in 2003.[25]

Functional MRI, magnetic resonance spectroscopy (MRS), positron emission-tomography (PET) scanning, and single photon CT (SPECT) scanning remain research tools. MRS is growing in promise as a tool in screening for conditions such as a deficiency in the creatine transporter gene.[26]

Also see PET Scanning in Autism Spectrum Disorders.

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Electroencephalography

Results are abnormal in 25% of children with autism.

Results are abnormal in all children with Rett syndrome.

Results can be diagnostic for children with Landau-Kleffner syndrome, because seizure activity in the brain speech centers often causes this rare disorder.

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Psychological and Neuropsychological Testing

In older children, testing may help distinguish pervasive developmental disorder (PDD) not otherwise specified from a mood disorder, early presentation of schizophrenia, or schizotypal personality disorder.[27]

Testing may reveal verbal and nonverbal learning disabilities.

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Contributor Information and Disclosures
Author

Sufen Chiu, MD, PhD  Assistant Clinical Professor (Volunteer Faculty), University of California, Davis, School of Medicine; Consulting Staff, Child and Adolescent Psychiatry of Sacramento County; Consulting Staff, Sutter Center for Psychiatry; Consulting Staff, Transcultural Wellness Center

Sufen Chiu, MD, PhD is a member of the following medical societies: American Academy of Child and Adolescent Psychiatry, American Academy of Pediatrics, American Psychiatric Association, California Medical Association, and Sierra Sacramento Valley Medical Society

Disclosure: Nothing to disclose.

Coauthor(s)

Randi Jenssen Hagerman, MD, FAAP  Professor of Pediatrics, Medical Director MIND Institute, Endowed Chair in Fragile X Research, Division of Developmental/Behavioral Pediatrics, University of California Davis Medical Center

Randi Jenssen Hagerman, MD, FAAP is a member of the following medical societies: American Academy of Pediatrics, American Society of Human Genetics, Society for Developmental and Behavioral Pediatrics, Society for Pediatric Research, and Western Society for Pediatric Research

Disclosure: Roche Grant/research funds PI on study; Novartis Grant/research funds PI on study; Seaside therapeutics Grant/research funds PI on study; Johnson and Johnson Grant/research funds PI on study; Forest Grant/research funds PI on study; curemark Grant/research funds PI on study

Specialty Editor Board

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Chief Editor

Caroly Pataki, MD  Professor of Clinical Psychiatry and Behavioral Sciences, Department of Psychiatry, Division Chair, Child and Adolescent Psychiatry, Keck School of Medicine of the University of Southern California

Caroly Pataki, MD is a member of the following medical societies: American Academy of Child and Adolescent Psychiatry, New York Academy of Sciences, and Physicians for Social Responsibility

Disclosure: Nothing to disclose.

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Young child with fragile X syndrome who does not have obvious dysmorphic features.
 
 
 
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