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Pervasive Developmental Disorder: Differential Diagnoses & Workup
Updated: Mar 26, 2008
- Overview
- Differential Diagnoses & Workup
- Treatment & Medication
- Follow-up
- Multimedia
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 |
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References
APA. Diagnostic and Statistical Manual of Mental Disorders. 4th ed. Washington, DC: APA; 1994.
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].
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].
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].
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].
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].
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].
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].
Cunningham M, Cox EO,. Hearing assessment in infants and children: recommendations beyond neonatal screening. Pediatrics. Feb 2003;111(2):436-40. [Medline].
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].
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].
Consensus Development Conference on Antipsychotic Drugs and Obesity and Diabetes. Diabetes Care. Feb 2004;27(2):596-601. [Medline].
Siegel B. The World of the Autistic Child: Understanding and Treating Autistic Spectrum Disorders. Oxford, UK: Oxford University Press; 1996.
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].
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
Differential Diagnoses & Workup: Pervasive Developmental Disorder