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Childhood Disintegrative Disorder Workup

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

Laboratory Studies

The following laboratory studies should be ordered:

  • Complete blood count (CBC)
  • Thyroid function testing – Triiodothyronine (T 3), thyroxine (T 4), and thyroid stimulating hormone (TSH)
  • Glucose testing – Hemoglobin A1c (HbA1c), fasting glucose, and 2-hour postprandial glucose
  • Liver function tests – Gamma-glutamyltransferase (GGT), alanine aminotransferase (ALT), and aspartate aminotransferase (AST)
  • Kidney function tests –Blood urea nitrogen (BUN) and serum or 24-hour creatinine
  • Heavy metal screening – Mercury and arsenic
  • HIV test
  • Urine for aminoacidopathy screening

Chromosome analysis may be done to exclude coexisting genetic syndromes.

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Psychological, Occupational, and Educational Tests

Psychological tests that may be performed include the following:

  • Children’s Autism Rating Scale (CARS) – This test yields information on the probability that the child’s behavior pattern resembles that of children of commensurate developmental age who are autisticlike
  • Kaufman Assessment Battery for Children (KABC) – This test yields information on mental processing, sequential processing, and an intelligence quotient (IQ) equivalent composite score
  • Vineland Adaptive Behavior Scale – This test yields information regarding the child’s level of adaptive functioning; it has limitations, including the variable reliability of the informants (eg, parents and caregivers)
  • PDD Behavior Inventory – This assessment is a rating scale for evaluating the response to intervention in children with pervasive development disorder (PDD) [35]
  • Intelligence scales – These measures are not specifically helpful for diagnosing childhood disintegrative disorder but can be used to exclude other diagnoses

Occupational therapy evaluation may be helpful for determination of the presence of tactile sensitivity (eg, intolerance of hugs or discomfort with sensory input on skin) and for assessment of motor delays. A Grandin hug box is used by some occupational therapists.

Educational and achievement testing should be done to determine the patient’s academic level and appropriate educational setting. Such testing should include language testing and consideration of a nonverbal learning disability if the verbal intellectual capacity is much higher than shown by performance testing, especially in the setting of impaired gesture communication, decreased visual contact, abnormal facial expression, and prosody.[33]

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MRI, PET, and CT

Magnetic resonance imaging (MRI), positron emission tomography (PET), or computed tomography (CT) may be used to exclude brain tumors or obstructive abnormalities in the brain parenchyma. Researchers have found functional MRIs to be helpful in localizing the areas of the brain experiencing audiovisual asynchrony.[12]

Avoid performing tests that may expose the developing brain to radiation or radioactive compounds if other tests (eg, neuropsychological tests) are available that can be diagnostically useful without imposing a risk of harm. The dye used for MRI and CT scanning also has the potential to impair kidney function.

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Other Tests

Careful screening of the cranial nerves and a funduscopic examination are warranted.

Electroencephalography (EEG) may be performed as part of the neurologic workup to exclude seizure disorders such as Landau-Kleffner syndrome (LKS). Obtain both sleep (with nasopharyngeal leads) and awake EEGs. To exclude seizure disorder, a 24-hour EEG is the most sensitive test.

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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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