Childhood Disintegrative Disorder Clinical Presentation

Updated: Nov 20, 2018
  • Author: Bettina E Bernstein, DO, DFAACAP, DFAPA; Chief Editor: Caroly Pataki, MD  more...
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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 (CDD) 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 CDD usually occurs by age 3–4 years. [28] 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, 2]

Children diagnosed with CDD 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 CDD it is not as likely as in LKS. [12, 34]


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. [35, 19]


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.

There have been case reports of a seasonal pattern to the speech loss (mutism). [36]