eMedicine Specialties > Pediatrics: Developmental and Behavioral > Medical Topics

Pervasive Developmental Disorder: Differential Diagnoses & Workup

Author: Sufen Chiu, MD, PhD, Assistant Clinical Professor (Volunteer Faculty), University of California Davis Medical School; Consulting Staff, Child and Adolescent Psychiatry of Sacramento County; Consulting Staff, Sutter Center for Psychiatry; Consulting Staff, Transcultural Wellness Center
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; Henrietta Leonard, MD, Program Director, Child and Adolescent Psychiatry, Professor of Psychiatry and Human Development, Division of Child and Adolescent Psychiatry, Rhode Island Hospital and Brown University
Contributor Information and Disclosures

Updated: Mar 26, 2008

Differential Diagnoses

Failure to Thrive
Hearing Impairment
Mood Disorder: Depression
Schizophrenia and Other Psychoses

Other Problems to Be Considered

Reactive attachment disorder
Landau-Kleffner syndrome
Schizotypal personality disorder
Mental retardation

Workup

Laboratory Studies

  • Fragile-site mental retardation 1 gene (FMR1) DNA testing for fragile X syndrome is indicated.
  • High-resolution cytogenetic studies with fluorescence in situ hybridization (FISH) is used to test for 15q duplication.
  • If the history or physical findings suggest additional concerns, consider the following:
    • High-resolution cytogenic studies with 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

Imaging Studies

  • Brain MRI and not head CT may be helpful in the clinical assessment of global developmental delay, as the Practice Committee of the Child Neurology Society outlined in 2003.7
  • Functional MRI, magnetic resonance spectroscopy (MRS), positron emission-tomography (PET) and single photon CT (SPECT) remain research tools. MRS is growing in promise as a tool in screening for conditions such as a deficiency in the creatine transporter gene.8

Other Tests

  • 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.
  • Hearing test9
  • 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.10
    • Testing may reveal verbal and nonverbal learning disabilities.

More on Pervasive Developmental Disorder

Overview: Pervasive Developmental Disorder
Differential Diagnoses & Workup: Pervasive Developmental Disorder
Treatment & Medication: Pervasive Developmental Disorder
Follow-up: Pervasive Developmental Disorder
Multimedia: Pervasive Developmental Disorder
References

References

  1. APA. Diagnostic and Statistical Manual of Mental Disorders. 4th ed. Washington, DC: APA; 1994.

  2. Redcay E, Courchesne E. When is the brain enlarged in autism? A meta-analysis of all brain size reports. Biol Psychiatry. Jul 1 2005;58(1):1-9. [Medline].

  3. Fombonne E. Epidemiological surveys of autism and other pervasive developmental disorders: an update. J Autism Dev Disord. Aug 2003;33(4):365-82. [Medline][Full Text].

  4. Luyster R, Richler J, Risi S, et al. Early regression in social communication in autism spectrum disorders: a CPEA Study. Dev Neuropsychol. 2005;27(3):311-36. [Medline].

  5. Chandler S, Charman T, Baird G, et al. Validation of the social communication questionnaire in a population cohort of children with autism spectrum disorders. J Am Acad Child Adolesc Psychiatry. Oct 2007;46(10):1324-32. [Medline].

  6. Challman TD, Barbaresi WJ, Katusic SK, Weaver A. The yield of the medical evaluation of children with pervasive developmental disorders. J Autism Dev Disord. Apr 2003;33(2):187-92. [Medline].

  7. Shevell M, Ashwal S, Donley D, et al. Practice parameter: evaluation of the child with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and The Practice Committee of the Child Neurology Society. Neurology. Feb 11 2003;60(3):367-80. [Medline].

  8. Newmeyer A, Cecil KM, Schapiro M, et al. Incidence of brain creatine transporter deficiency in males with developmental delay referred for brain magnetic resonance imaging. J Dev Behav Pediatr. Aug 2005;26(4):276-82. [Medline].

  9. Cunningham M, Cox EO,. Hearing assessment in infants and children: recommendations beyond neonatal screening. Pediatrics. Feb 2003;111(2):436-40. [Medline].

  10. Bryson SE, Rogers SJ, Fombonne E. Autism spectrum disorders: early detection, intervention, education, and psychopharmacological management. Can J Psychiatry. Sep 2003;48(8):506-16. [Medline].

  11. McDougle CJ, Scahill L, Aman MG, et al. Risperidone for the core symptom domains of autism: results from the study by the autism network of the research units on pediatric psychopharmacology. Am J Psychiatry. Jun 2005;162(6):1142-8. [Medline].

  12. Consensus Development Conference on Antipsychotic Drugs and Obesity and Diabetes. Diabetes Care. Feb 2004;27(2):596-601. [Medline].

  13. Siegel B. The World of the Autistic Child: Understanding and Treating Autistic Spectrum Disorders. Oxford, UK: Oxford University Press; 1996.

  14. Sutcliffe JS, Delahanty RJ, Prasad HC, et al. Allelic heterogeneity at the serotonin transporter locus (SLC6A4) confers susceptibility to autism and rigid-compulsive behaviors. Am J Hum Genet. Aug 2005;77(2):265-79. [Medline].

  15. Volkmar F, Cook E Jr, Pomeroy J, et al. Summary of the Practice Parameters for the Assessment and Treatment of Children, Adolescents, and Adults with Autism and other Pervasive Developmental Disorders. American Academy of Child and Adolescent Psychiatry. J Am Acad Child Adolesc Psychiatry. Dec 1999;38(12):1611-6. [Medline].

Further Reading

Keywords

personality developmental disorder, PDD, autistic disorder, autism, Rett disorder, Rett syndrome, childhood disintegrative disorder, Asperger disorder, Asperger syndrome, pervasive developmental disorder not otherwise specified, childhood disintegration, obsessive compulsive disorder, OCD, attention deficit hyperactivity disorder, ADHD, schizophrenia, anxiety, regression, language delay, epilepsy, cerebral palsy, tuberous sclerosis, phenylketonuria, neurofibromatosis, Down syndrome, congenital rubella

Contributor Information and Disclosures

Author

Sufen Chiu, MD, PhD, Assistant Clinical Professor (Volunteer Faculty), University of California Davis Medical School; 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: Janssen Honoraria Speaking and teaching

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: Nothing to disclose.

Henrietta Leonard, MD, Program Director, Child and Adolescent Psychiatry, Professor of Psychiatry and Human Development, Division of Child and Adolescent Psychiatry, Rhode Island Hospital and Brown University
Henrietta Leonard, MD is a member of the following medical societies: American Academy of Child and Adolescent Psychiatry, American Psychiatric Association, and Association for Academic Psychiatry
Disclosure: Nothing to disclose.

Medical Editor

Carol Diane Berkowitz, MD, Executive Vice Chair, Department of Pediatrics, Professor, Harbor-University of California at Los Angeles Medical Center
Carol Diane Berkowitz, MD is a member of the following medical societies: Alpha Omega Alpha, Ambulatory Pediatric Association, American Academy of Pediatrics, American College of Emergency Physicians, American Medical Association, American Pediatric Society, and North American Society for Pediatric and Adolescent Gynecology
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine.com, Inc
Disclosure: Pfizer Inc Stock Investment from broker recommendation; Avanir Pharma Stock Investment from broker recommendation

CME Editor

Carrie Sylvester, MD, MPH, Director of Education in Child and Adolescent Psychiatry, Professor, Departments of Psychiatry and Pediatrics, Northwestern University Medical School
Carrie Sylvester, MD, MPH is a member of the following medical societies: American Academy of Child and Adolescent Psychiatry, American Academy of Pediatrics, American Medical Women's Association, American Psychiatric Association, and American Society for Adolescent Psychiatry
Disclosure: Nothing to disclose.

Chief Editor

Caroly Pataki, MD, Professor of Clinical Psychiatry, Department of Psychiatry and Biobehavioral Sciences, Division Chair of Child and Adolescent Psychiatry, Director of Training, Child and Adolescent Psychiatry Residency Program, University of Southern California Keck School of Medicine
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.

 
 
HONcode

We subscribe to the
HONcode principles of the
Health On the Net Foundation

All material on this website is protected by copyright, Copyright© 1994- by Medscape.
This website also contains material copyrighted by 3rd parties.

DISCLAIMER: The content of this Website is not influenced by sponsors. The site is designed primarily for use by qualified physicians and other medical professionals. The information contained herein should NOT be used as a substitute for the advice of an appropriately qualified and licensed physician or other health care provider. The information provided here is for educational and informational purposes only. In no way should it be considered as offering medical advice. Please check with a physician if you suspect you are ill.