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Childhood Disintegrative Disorder Clinical Presentation

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

History

Obtain a thorough history. If the family has home movies, this may help with early identification of a departure from normal development.[4]

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.[25] 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)[32] , 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.

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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.[33, 17]

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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.

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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.

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