Childhood Disintegrative Disorder Clinical Presentation
- Author: Bettina E Bernstein, DO; Chief Editor: Caroly Pataki, MD more...
Obtain a thorough history. If the family has home movies, this may help with early identification of a departure from normal development.
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. 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.[12, 3]
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.[12, 31]
On December 1, 2012, the American Psychiatric Association approved the final diagnostic criteria for the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) , scheduled for release in May 2013. The new manual will remove the current system of axes used to class diagnoses into broad groups. It will restructure diagnostic groups to bring disorders that are similar in underlying vulnerabilities and symptom characteristics under the same headings. Among the changes is an incorporation of several conditions, including child disintegrative disorder, Asperger syndrome and pervasive developmental disorder, into a single autism spectrum disorder diagnosis.
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.[33, 17]
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.
Fombonne E. Epidemiology of pervasive developmental disorders. Pediatr Res. 2009 Jun. 65(6):591-8. [Medline].
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].
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].
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].
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].
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].
Gottesman II, Gould TD. The endophenotype concept in psychiatry: etymology and strategic intentions. Am J Psychiatry. 2003 Apr. 160(4):636-45. [Medline].
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].
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].
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].
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].
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].
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].
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].
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].
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].
Enstrom AM, Van de Water JA, Ashwood P. Autoimmunity in autism. Curr Opin Investig Drugs. 2009 May. 10(5):463-73. [Medline].
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].
Finegold SM, Downes J, Summanen PH. Microbiology of regressive autism. Anaerobe. 2012 Apr. 18(2):260-2. [Medline].
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].
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].
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].
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].
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].
American Psychiatric Association. Childhood Disintegrative Disorder 299.10. Diagnostic and Statistical Manual of Mental Disorders. 4th ed. 1994. 73-5.
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].
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].
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].
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].
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].
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].
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.
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].
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].
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].
Findling RL. Atypical antipsychotic treatment of disruptive behavior disorders in children and adolescents. J Clin Psychiatry. 2008. 69 Suppl 4:9-14. [Medline].
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].
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].
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].
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].
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].
Chakraborty N, Johnston T. Aripiprazole and neuroleptic malignant syndrome. Int Clin Psychopharmacol. 2004 Nov. 19(6):351-3. [Medline].
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].
Nielsen J, Bruhn AM. Atypical neuroleptic malignant syndrome caused by olanzapine. Acta Psychiatr Scand. 2005 Sep. 112(3):238-40; discussion 240. [Medline].
Segura-Bruna N, Rodriguez-Campello A, Puente V, Roquer J. Valproate-induced hyperammonemic encephalopathy. Acta Neurol Scand. 2006 Jul. 114(1):1-7. [Medline].
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].
Stewart JT. Treatment of valproate-induced hyperammonemia. J Am Geriatr Soc. 2005 Jun. 53(6):1080. [Medline].
[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].
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].
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].
Sonnier L, Barzman D. Pharmacologic management of acutely agitated pediatric patients. Paediatr Drugs. 2011 Feb 1. 13(1):1-10. [Medline].
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].
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].
Nye C, Brice A. Combined vitamin B6-magnesium treatment in autism spectrum disorder. Cochrane Database Syst Rev. 2005 Oct 19. CD003497. [Medline].
Murch S. Diet, immunity, and autistic spectrum disorders. J Pediatr. 2005 May. 146(5):582-4. [Medline].