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Childhood Disintegrative Disorder Differential Diagnoses

  • Author: Bettina E Bernstein, DO; Chief Editor: Caroly Pataki, MD  more...
 
Updated: Jun 28, 2016
 
 

Diagnostic Considerations

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

  • Mental retardation (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[14]
  • 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.[34]

Differential Diagnoses

 
 
Contributor Information and Disclosures
Author

Bettina E Bernstein, DO Distinguished Fellow, American Academy of Child and Adolescent Psychiatry; Distinguished Fellow, American Psychiatric Association; Clinical Assistant Professor of Neurosciences and Psychiatry, Philadelphia College of Osteopathic Medicine; Clinical Affiliate Medical Staff, Department of Child and Adolescent Psychiatry, Children's Hospital of Philadelphia; Consultant to theVillage, Private Practice; Consultant PMHCC/CBH at Family Court, Philadelphia

Bettina E Bernstein, DO is a member of the following medical societies: American Academy of Child and Adolescent Psychiatry, American Psychiatric Association

Disclosure: Nothing to disclose.

Chief Editor

Caroly Pataki, MD Health Sciences Clinical Professor of Psychiatry and Biobehavioral Sciences, University of California, Los Angeles, David Geffen 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, Physicians for Social Responsibility

Disclosure: Nothing to disclose.

Acknowledgements

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.

References
  1. Fombonne E. Epidemiology of pervasive developmental disorders. Pediatr Res. 2009 Jun. 65(6):591-8. [Medline].

  2. Barone R, Sturiale L, Fiumara A, Palmigiano A, Bua RO, Rizzo R, et al. CSF N-glycan profile reveals sialylation deficiency in a patient with GM2 gangliosidosis presenting as childhood disintegrative disorder. Autism Res. 2016 Apr. 9 (4):423-8. [Medline].

  3. Volkmar FR, State M, Klin A. Autism and autism spectrum disorders: diagnostic issues for the coming decade. J Child Psychol Psychiatry. 2009 Jan. 50(1-2):108-15. [Medline].

  4. Palomo R, Thompson M, Colombi C, Cook I, Goldring S, Young GS, et al. A case study of childhood disintegrative disorder using systematic analysis of family home movies. J Autism Dev Disord. 2008 Nov. 38(10):1853-8. [Medline].

  5. Rossignol DA, Rossignol LW, Smith S, Schneider C, Logerquist S, Usman A, et al. Hyperbaric treatment for children with autism: a multicenter, randomized, double-blind, controlled trial. BMC Pediatr. 2009 Mar 13. 9:21. [Medline]. [Full Text].

  6. Libbey JE, Coon HH, Kirkman NJ, Sweeten TL, Miller JN, Stevenson EK, et al. Are there enhanced MBP autoantibodies in autism?. J Autism Dev Disord. 2008 Feb. 38(2):324-32. [Medline].

  7. Gottesman II, Gould TD. The endophenotype concept in psychiatry: etymology and strategic intentions. Am J Psychiatry. 2003 Apr. 160(4):636-45. [Medline].

  8. Berry-Kravis E, Sumis A, Hervey C, Nelson M, Porges SW, Weng N, et al. Open-label treatment trial of lithium to target the underlying defect in fragile X syndrome. J Dev Behav Pediatr. 2008 Aug. 29(4):293-302. [Medline].

  9. Jyonouchi H, Geng L, Streck DL, Toruner GA. Immunological characterization and transcription profiling of peripheral blood (PB) monocytes in children with autism spectrum disorders (ASD) and specific polysaccharide antibody deficiency (SPAD): case study. J Neuroinflammation. 2012 Jan 7. 9:4. [Medline]. [Full Text].

  10. Strug LJ, Clarke T, Chiang T, Chien M, Baskurt Z, Li W, et al. Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4). Eur J Hum Genet. 2009 Sep. 17(9):1171-81. [Medline]. [Full Text].

  11. Ortega-Hernandez OD, Kivity S, Shoenfeld Y. Olfaction, psychiatric disorders and autoimmunity: is there a common genetic association?. Autoimmunity. 2009 Jan. 42(1):80-8. [Medline].

  12. Lillywhite LM, Saling MM, Harvey AS, Abbott DF, Archer JS, Vears DF, et al. Neuropsychological and functional MRI studies provide converging evidence of anterior language dysfunction in BECTS. Epilepsia. 2009 Oct. 50(10):2276-84. [Medline].

  13. Posey DJ, Erickson CA, McDougle CJ. Developing drugs for core social and communication impairment in autism. Child Adolesc Psychiatr Clin N Am. 2008 Oct. 17(4):787-801, viii-ix. [Medline]. [Full Text].

  14. Miller MT, Ventura L, Strömland K. Thalidomide and misoprostol: Ophthalmologic manifestations and associations both expected and unexpected. Birth Defects Res A Clin Mol Teratol. 2009 Aug. 85(8):667-76. [Medline].

  15. Tedrus GM, Fonseca LC, Melo EM, Ximenes VL. Educational problems related to quantitative EEG changes in benign childhood epilepsy with centrotemporal spikes. Epilepsy Behav. 2009 Aug. 15(4):486-90. [Medline].

  16. Watemberg N, Leitner Y, Fattal-Valevski A, Kramer U. Epileptic negative myoclonus as the presenting seizure type in rolandic epilepsy. Pediatr Neurol. 2009 Jul. 41(1):59-64. [Medline].

  17. Enstrom AM, Van de Water JA, Ashwood P. Autoimmunity in autism. Curr Opin Investig Drugs. 2009 May. 10(5):463-73. [Medline].

  18. Critchfield JW, van Hemert S, Ash M, Mulder L, Ashwood P. The potential role of probiotics in the management of childhood autism spectrum disorders. Gastroenterol Res Pract. 2011. 2011:161358. [Medline]. [Full Text].

  19. Finegold SM, Downes J, Summanen PH. Microbiology of regressive autism. Anaerobe. 2012 Apr. 18(2):260-2. [Medline].

  20. Jyonouchi H, Geng L, Ruby A, et al. Evaluation of an association between gastrointestinal symptoms and cytokine production against common dietary proteins in children with autism spectrum disorders. J Pediatr. 2005 May. 146(5):605-10. [Medline].

  21. Stigler KA, Posey DJ, McDougle CJ. Ramelteon for insomnia in two youths with autistic disorder. J Child Adolesc Psychopharmacol. 2006 Oct. 16(5):631-6. [Medline].

  22. Malhotra S, Subodh BN, Parakh P, Lahariya S. Brief report: childhood disintegrative disorder as a likely manifestation of vitamin B12 deficiency. J Autism Dev Disord. 2013 Sep. 43(9):2207-10. [Medline].

  23. Rosman NP, Bergia BM. Childhood disintegrative disorder: distinction from autistic disorder and predictors of outcome. J Child Neurol. 2013 Dec. 28(12):1587-98. [Medline].

  24. Creten C, van der Zwaan S, Blankespoor RJ, Maatkamp A, Klinkenberg S, van Kranen-Mastenbroek VH, et al. [Anti-NMDA-receptor encephalitis: a new axis-III disorder in the differential diagnosis of childhood disintegrative disorder, early onset schizophrenia and late onset autism]. Tijdschr Psychiatr. 2012. 54(5):475-9. [Medline].

  25. American Psychiatric Association. Childhood Disintegrative Disorder 299.10. Diagnostic and Statistical Manual of Mental Disorders. 4th ed. 1994. 73-5.

  26. Stigler KA, McDougle CJ. Pharmacotherapy of irritability in pervasive developmental disorders. Child Adolesc Psychiatr Clin N Am. 2008 Oct. 17(4):739-52, vii-viii. [Medline].

  27. Agarwal V, Sitholey P, Mohan I. Childhood Disintegrative Disorder, an atypical presentation: a case report. J Autism Dev Disord. 2005 Dec. 35(6):873-4. [Medline].

  28. Mordekar SR, Prendergast M, Chattopadhyay AK, Baxter PS. Corticosteroid treatment of behaviour, language and motor regression in childhood disintegrative disorder. Eur J Paediatr Neurol. 2008 Jul 13. [Medline].

  29. Russo M, Perry R, Kolodny E, Gillberg C. Heller syndrome in a pre-school boy. Proposed medical evaluation and hypothesized pathogenesis. Eur Child Adolesc Psychiatry. 1996 Sep. 5(3):172-7. [Medline].

  30. Akshoomoff N, Farid N, Courchesne E, Haas R. Abnormalities on the neurological examination and EEG in young children with pervasive developmental disorders. J Autism Dev Disord. 2007 May. 37(5):887-93. [Medline].

  31. Kurita H, Koyama T, Osada H. Comparison of childhood disintegrative disorder and disintegrative psychosis not diagnosed as childhood disintegrative disorder. Psychiatry Clin Neurosci. 2005 Apr. 59(2):200-5. [Medline].

  32. A Message From APA President Dilip Jeste, M.D., on DSM-5. Available at http://www.psychnews.org/files/DSM-message.pdf. Accessed: December 1, 2012.

  33. Young EC, Diehl JJ, Morris D, et al. The use of two language tests to identify pragmatic language problems in children with autism spectrum disorders. Lang Speech Hear Serv Sch. 2005 Jan. 36(1):62-72. [Medline].

  34. Gibson RC, Walcott G. Benzodiazepines for catatonia in people with schizophrenia and other serious mental illnesses. Cochrane Database Syst Rev. 2008 Oct 8. CD006570. [Medline].

  35. Cohen IL, Schmidt-Lackner S, Romanczyk R, Sudhalter V. The PDD Behavior Inventory: a rating scale for assessing response to intervention in children with pervasive developmental disorder. J Autism Dev Disord. 2003 Feb. 33(1):31-45. [Medline].

  36. Findling RL. Atypical antipsychotic treatment of disruptive behavior disorders in children and adolescents. J Clin Psychiatry. 2008. 69 Suppl 4:9-14. [Medline].

  37. Stigler KA, Diener JT, Kohn AE, Li L, Erickson CA, Posey DJ, et al. Aripiprazole in pervasive developmental disorder not otherwise specified and Asperger's disorder: a 14-week, prospective, open-label study. J Child Adolesc Psychopharmacol. 2009 Jun. 19(3):265-74. [Medline].

  38. King BH, Hollander E, Sikich L, McCracken JT, Scahill L, Bregman JD, et al. Lack of efficacy of citalopram in children with autism spectrum disorders and high levels of repetitive behavior: citalopram ineffective in children with autism. Arch Gen Psychiatry. 2009 Jun. 66(6):583-90. [Medline].

  39. Biederman J, Hammerness P, Doyle R, Joshi G, Aleardi M, Mick E. Risperidone treatment for ADHD in children and adolescents with bipolar disorder. Neuropsychiatr Dis Treat. 2008 Feb. 4(1):203-7. [Medline]. [Full Text].

  40. Posey DJ, Aman MG, McCracken JT, Scahill L, Tierney E, Arnold LE, et al. Positive effects of methylphenidate on inattention and hyperactivity in pervasive developmental disorders: an analysis of secondary measures. Biol Psychiatry. 2007 Feb 15. 61(4):538-44. [Medline].

  41. Carlson T, Reynolds CA, Caplan R. Case report: valproic Acid and risperidone treatment leading to development of hyperammonemia and mania. J Am Acad Child Adolesc Psychiatry. 2007 Mar. 46(3):356-61. [Medline].

  42. Chakraborty N, Johnston T. Aripiprazole and neuroleptic malignant syndrome. Int Clin Psychopharmacol. 2004 Nov. 19(6):351-3. [Medline].

  43. Chungh DS, Kim BN, Cho SC. Neuroleptic malignant syndrome due to three atypical antipsychotics in a child. J Psychopharmacol. 2005 Jul. 19(4):422-5. [Medline].

  44. Nielsen J, Bruhn AM. Atypical neuroleptic malignant syndrome caused by olanzapine. Acta Psychiatr Scand. 2005 Sep. 112(3):238-40; discussion 240. [Medline].

  45. Segura-Bruna N, Rodriguez-Campello A, Puente V, Roquer J. Valproate-induced hyperammonemic encephalopathy. Acta Neurol Scand. 2006 Jul. 114(1):1-7. [Medline].

  46. Soares-Fernandes JP, Machado A, Ribeiro M, et al. Hippocampal involvement in valproate-induced acute hyperammonemic encephalopathy. Arch Neurol. 2006 Aug. 63(8):1202-3. [Medline].

  47. Stewart JT. Treatment of valproate-induced hyperammonemia. J Am Geriatr Soc. 2005 Jun. 53(6):1080. [Medline].

  48. [Guideline] Kagan-Kushnir T, Roberts SW, Snead OC 3rd. Screening electroencephalograms in autism spectrum disorders: evidence-based guideline. J Child Neurol. 2005 Mar. 20(3):197-206. [Medline].

  49. Chez MG, Burton Q, Dowling T, Chang M, Khanna P, Kramer C. Memantine as adjunctive therapy in children diagnosed with autistic spectrum disorders: an observation of initial clinical response and maintenance tolerability. J Child Neurol. 2007 May. 22(5):574-9. [Medline].

  50. Leskovec TJ, Rowles BM, Findling RL. Pharmacological treatment options for autism spectrum disorders in children and adolescents. Harv Rev Psychiatry. 2008. 16(2):97-112. [Medline].

  51. Sonnier L, Barzman D. Pharmacologic management of acutely agitated pediatric patients. Paediatr Drugs. 2011 Feb 1. 13(1):1-10. [Medline].

  52. Levy SE, Hyman SL. Complementary and alternative medicine treatments for children with autism spectrum disorders. Child Adolesc Psychiatr Clin N Am. 2008 Oct. 17(4):803-20, ix. [Medline]. [Full Text].

  53. Duncan B, McDonough-Means S, Worden K, Schnyer R, Andrews J, Meaney FJ. Effectiveness of osteopathy in the cranial field and myofascial release versus acupuncture as complementary treatment for children with spastic cerebral palsy: a pilot study. J Am Osteopath Assoc. 2008 Oct. 108(10):559-70. [Medline].

  54. Nye C, Brice A. Combined vitamin B6-magnesium treatment in autism spectrum disorder. Cochrane Database Syst Rev. 2005 Oct 19. CD003497. [Medline].

  55. Murch S. Diet, immunity, and autistic spectrum disorders. J Pediatr. 2005 May. 146(5):582-4. [Medline].

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