Childhood Disintegrative Disorder Differential Diagnoses

Updated: Nov 20, 2018
  • Author: Bettina E Bernstein, DO, DFAACAP, DFAPA; Chief Editor: Caroly Pataki, MD  more...
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Diagnostic Considerations

In addition to the differential diagnosis (see below), other problems to be considered include the following:

  • Intellectual disability (idiopathic or due to a known cause, such as lead poisoning, aminoacidopathy, iodine deficiency, or hypothyroidism)

  • Brain tumor

  • Heavy metal intoxication

  • Insecticide overdose

  • Long-chain or medium-chain fatty acidopathy

  • Neurodegenerative disorders

  • Psychoactive substance poisoning

  • Seizure disorder

  • Unusual presentation of neurologic manifestation of

  • HIV/AIDS, Landau-Kleffner syndrome (LKS), or adrenoleukodystrophy

  • Rett syndrome

  • Schilder syndrome or other progressive central nervous system (CNS) storage or metabolic disorders

  • Aminoacidurias

  • MECP2 gene mutations

  • Semantic pragmatic syndrome

  • Multidimensional impairment

  • Hydrocephaly

  • Pathologic demand avoidance (PDA) syndrome

  • Nonverbal learning disorder

  • Teratogenicity [16]

  • Catatonia: In situations in which symptoms of catatonia are present (silence [mutism], tenseness and rigidity [holds back acts that are compelled by memories], refusal to obey commands, and displacing rising emotions and tension into motor acts that shut out reality [posturing, grimacing, staring, stereotypes]) and that appear to worsen or not respond to other medications, treatment with benzodiazepines should be considered. If a positive response occurs, the diagnosis of catatonia should be included in the differential diagnosis, especially because a state of extreme excitement can cause potentially fatal medical illness such as pneumonia, blood clotting problems (thrombosis), malnutrition or dehydration, concussion (due to head banging), or other cutaneous infection due to self-injurious behaviors while catatonic. [37]

Differential Diagnoses