Childhood Disintegration Disorder Clinical Presentation

  • Author: Bettina E Bernstein, DO; Chief Editor: Caroly Pataki, MD   more...
 
Updated: Apr 30, 2012
 

History

Obtain a thorough history. If the family has home movies, this may help with early identification of a departure from normal development.[3]

Children with childhood disintegrative disorder are developmentally normal before the age of onset. In this respect, they are similar to patients with Landau-Kleffner syndrome (LKS); however, the onset of LKS tends to be later (eg, age 5.5 years), whereas the onset of childhood disintegrative disorder usually occurs by age 3-4 years.[13] Developmental delays in language, social, emotional, cognitive, or motor areas may not have been previously apparent to either the parent or pediatrician.

Impaired social sensitivity and affect regulation (eg, inability to modulate anger and anxiety, resulting in rage and anxiety attacks) can occur with or without cognitive distortions (eg, vivid grandiose fantasies or idiosyncratic logic) and can result in cascading effects that further decrease adequate socialization and diminish the preferential attention to the eyes of other human beings that is necessary for adequate social interaction.[10, 2]

Children diagnosed with childhood disintegrative disorder tend to have more long-lasting abnormalities of auditory responsiveness and verbal communication than children with pervasive developmental disorder (PDD), but the abnormalities are not as severe as those in children with LKS. Although hyperlexia may be a feature of childhood disintegrative disorder, it is not as likely as in LKS.[10, 14]

Next

Physical Examination

Perform a thorough physical examination. Occasionally after diagnosis, mild neurologic abnormalities (eg, mild macrocephaly, microcephaly, motor incoordination, and impaired sleep-wake cycles) are detected on neurologic examination, necessitating a high index of suspicion for a seizure disorder.

No specific physical abnormalities are diagnostic of this disorder; however, some affected children may have a history of increased ear infections, reflecting possible decreased autoimmunity.[15, 16]

Previous
Next

Special Concerns

Failure to document language and developmental dysfunction in the child with head trauma at the time of presentation is a medicolegal pitfall. For example, a 3-year-old child with a history of normal development may exhibit a regression of language usage and development after a documented head injury. Because it may be difficult to ascertain whether a loss of language and subsequent poor language development is directly related to the trauma, it is important to document the child’s condition at the time of presentation.

Such documentation may include a comprehensive neurologic examination, along with imaging studies. Through appropriate evaluation of the child’s current condition, potential sequelae (eg, seizures) can be excluded or diagnosed right after the trauma occurred. Documenting a reasonable cause for language dysfunction protects against potential liability.

Another potential medicolegal pitfall is failure to notify Child Protective Services (CPS) regarding suspected abuse or other safety issues affecting the presenting child. For example, a child may present with a history of regression in social relatedness that occurs simultaneously with possible physical abuse by a parent.

In such cases, the physician is legally required to involve the local CPS so that the agency can investigate the suspicion of abuse and make a judgment regarding the child’s safety. If this report is not made, the physician may be criminally liable. Therefore, it is important to call CPS regardless of whether the possible abuse is a likely cause of the child’s problems with social relatedness.

Previous
Proceed to Differential Diagnoses
 
 
Contributor Information and Disclosures
Author

Bettina E Bernstein, DO  Consultant at Resources for Human Development

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

Disclosure: Nothing to disclose.

Chief Editor

Caroly Pataki, MD  Professor of Clinical Psychiatry and Behavioral Sciences, Department of Psychiatry, Division Chair, Child and Adolescent Psychiatry, Keck School of Medicine of the University of Southern California

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.

Additional Contributors

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. Jun 2009;65(6):591-8. [Medline].

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

  3. 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. Nov 2008;38(10):1853-8. [Medline].

  4. 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. Mar 13 2009;9:21. [Medline].

  5. 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. Feb 2008;38(2):324-32. [Medline].

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

  7. 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. Aug 2008;29(4):293-302. [Medline].

  8. 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. Sep 2009;17(9):1171-81. [Medline].

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

  10. 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. Oct 2009;50(10):2276-84. [Medline].

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

  12. 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. Sep 1996;5(3):172-7. [Medline].

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

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

  15. 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. Jan 2005;36(1):62-72. [Medline].

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

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

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

  19. Miller MT, Strömland K, Ventura L, Johansson M, Bandim JM, Gillberg C. Autism with ophthalmologic malformations: the plot thickens. Trans Am Ophthalmol Soc. 2004;102:107-20; discussion 120-1. [Medline].

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

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

  22. 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. May 2005;146(5):605-10. [Medline].

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

  24. 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. Feb 2003;33(1):31-45. [Medline].

  25. 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. Feb 2008;4(1):203-7. [Medline]. [Full Text].

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

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

  28. 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. Jun 2009;19(3):265-74. [Medline].

  29. 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. Jun 2009;66(6):583-90. [Medline].

  30. 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].

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

  32. 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. Oct 2008;108(10):559-70. [Medline].

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

  34. 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. May 2007;37(5):887-93. [Medline].

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

  36. 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. Feb 15 2007;61(4):538-44. [Medline].

  37. 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. Mar 2007;46(3):356-61. [Medline].

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

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

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

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

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

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

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

  45. 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. May 2007;22(5):574-9. [Medline].

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

 
Previous
Next
 
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2012 by WebMD LLC.
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.