eMedicine Specialties > Pediatrics: Developmental and Behavioral > Medical Topics

Pervasive Developmental Disorder: Childhood Disintegration Disorder

Author: Bettina E Bernstein, DO, Assistant Professor, Department of Psychiatry, Philadelphia College of Osteopathic Medicine; Attending Staff, Department of Child and Adolescent Psychiatry, Children's Hospital of Philadelphia; Private Practice at the Wynnewood House, Consultant to Child Guidance Resource Centers
Contributor Information and Disclosures

Updated: Nov 27, 2007

Introduction

Background

Childhood disintegrative disorder is a rare disorder, occurring in fewer than 5 in 10,000 children. It generally manifests by the fourth year of life, after a period of at least 2 years of normal development. Childhood disintegrative disorder manifests with a loss of previously acquired language and social skills and results in persistent delay in these areas. For example, a child previously able to speak in 2- or 3-word phrases gradually or abruptly loses the ability to communicate using words or uses only fragments. Social and emotional development also regress, resulting in impaired ability to relate with others. For example, a child previously able to accept reassurance from his or her parent (eg, a hug) loses the ability to be consoled and even may withdraw from human (tactile) contact.

Overall, the social, communicative, and behavioral features of childhood disintegrative disorder resemble those of autistic disorder. Distinct qualitative impairments in social interaction and communication are present. In addition, restricted, repetitive, or stereotyped patterns of behavior, interests, and activities occur. Motor loss of previously acquired skills (eg, child previously toilet trained soils during the day and night, child previously able to pedal a tricycle or draw shapes can no longer do so) is present. Additional symptoms may include the onset of difficulty in the transition of waking from sleep. Social interactions become compromised (eg, aggressiveness, tantrums, withdrawal from peers), as does motor function, resulting in poor coordination and possible awkwardness of gait.

Pathophysiology

No clear-cut pathophysiology is proven to cause this disorder; debate within the developmental disabilities field regarding long-term outcome of children with this disorder is noted. Some researchers hypothesize that predisposing genetic factors combined with environmental stressors (eg, prenatal or postnatal virus exposure, birth trauma) result in brain deposition of amyloid and disruption of synaptic transmissions, possibly involving interleukin-1 or beta-endorphins.

Frequency

United States

Frequency is very rare (<5 in 10,000 children). Childhood disintegrative disorder is much less common than autistic disorder.

International

No current studies are large enough to determine international frequency.

Mortality/Morbidity

  • No mortality or morbidity is caused directly by childhood disintegrative disorder. Indirectly, an increased risk of mortality and morbidity may be present because of a comorbid medical condition, such as a neurodegenerative disorder. The clinician should be alert to the possibility of Landau-Kleffner syndrome (LKS).
  • LKS is a rare condition of unknown etiology that is more common in boys who generally present with more severe language impairment and later than those with childhood disintegrative disorder; LKS has a mean onset of 5.5 years. Determining the presence of this syndrome is important because it is generally associated with seizure disorder and may respond to treatment with anticonvulsants such as valproic acid or steroids, in some cases.

Sex

This disorder is slightly more common in males than in females.

Age

Childhood disintegrative disorder, as defined by the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV), occurs only after a period of at least 2 years of normal development, when the child is younger than 10 years.1 Onset generally occurs in children aged 3-4 years and may be insidious or abrupt.

Clinical

History

  • Obtain a thorough history.
  • The child is developmentally normal prior to the age of onset. This is similar to Landau-Kleffner syndrome (LKS); however, in LKS, the onset tends to be later (eg, age 5.5 y), whereas, in childhood disintegrative disorder, the onset is usually by age 3-4 years.
  • Developmental delays in language, social, emotional, cognitive, or motor areas are not apparent to either the parent or pediatrician prior to the onset of the disorder.
  • 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 but not as severe as in LKS.

Physical

  • Perform a thorough physical examination.
  • Occasionally after diagnosis, mild neurologic abnormalities (eg, mild macrocephaly, microcephaly, motor incoordination) are detected upon neurologic examination.
  • Specific physical abnormalities are not diagnostic of this disorder.

Causes

No single causal factor for childhood disintegrative disorder is known. Current research emphasizes that a combination of genetic susceptibility and prenatal (or environmental) stress may explain the finding of higher-than-expected brain deposition of amyloid and disruption of synaptic transmission, possibly involving interleukin-1 or beta-endorphins.

  • Environmental risk factors
    • Viral exposure (usually intrauterine transmission) - Toxoplasmosis, other infections, rubella, cytomegalovirus infection, and herpes simplex (TORCH)
    • Birth trauma
    • Toxin exposure
    • Prematurity
  • Genetic factors
    • Possible susceptibility to chromosomal breakage or disruption
    • Family history of autism or Asperger disorder
  • Associated disorders
    • Autoimmune disorders
    • Allergy or asthma

More on Pervasive Developmental Disorder: Childhood Disintegration Disorder

Overview: Pervasive Developmental Disorder: Childhood Disintegration Disorder
Differential Diagnoses & Workup: Pervasive Developmental Disorder: Childhood Disintegration Disorder
Treatment & Medication: Pervasive Developmental Disorder: Childhood Disintegration Disorder
Follow-up: Pervasive Developmental Disorder: Childhood Disintegration Disorder
References
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References

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Further Reading

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Keywords

childhood disintegrative disorder, Heller syndrome, dementia infantilis, disintegrative psychosis, language loss, loss of social skills, social development regression, emotional development regression, neuroleptic malignant syndrome, NMS, loss of motor skills, autistic disorder, autism, tantrums, Landau-Kleffner syndrome, LKS, seizure disorder, pervasive developmental disorder, birth trauma, Asperger disorder, asthma

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Contributor Information and Disclosures

Author

Bettina E Bernstein, DO, Assistant Professor, Department of Psychiatry, Philadelphia College of Osteopathic Medicine; Attending Staff, Department of Child and Adolescent Psychiatry, Children's Hospital of Philadelphia; Private Practice at the Wynnewood House, Consultant to Child Guidance Resource Centers
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.

Medical Editor

Carol Diane Berkowitz, MD, Executive Vice Chair, Department of Pediatrics, Professor, Harbor-University of California at Los Angeles Medical Center
Carol Diane Berkowitz, MD is a member of the following medical societies: Alpha Omega Alpha, Ambulatory Pediatric Association, American Academy of Pediatrics, American College of Emergency Physicians, American Medical Association, American Pediatric Society, and North American Society for Pediatric and Adolescent Gynecology
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine.com, Inc
Disclosure: Pfizer Inc Stock Investment from broker recommendation

Managing Editor

Caroly Pataki, MD, Professor of Clinical Psychiatry, Department of Psychiatry and Biobehavioral Sciences, Division Chair of Child and Adolescent Psychiatry, Director of Training, Child and Adolescent Psychiatry Residency Program, University of Southern California Keck 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, and Physicians for Social Responsibility
Disclosure: Nothing to disclose.

CME Editor

Daniel Rauch, MD, FAAP, Director, Pediatric Hospitalist Program, Associate Professor, Department of Pediatrics, New York University School of Medicine
Daniel Rauch, MD, FAAP is a member of the following medical societies: Ambulatory Pediatric Association, American Academy of Pediatrics, and Society of Hospital Medicine
Disclosure: Nothing to disclose.

Chief Editor

Caroly Pataki, MD, Professor of Clinical Psychiatry, Department of Psychiatry and Biobehavioral Sciences, Division Chair of Child and Adolescent Psychiatry, Director of Training, Child and Adolescent Psychiatry Residency Program, University of Southern California Keck 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, and Physicians for Social Responsibility
Disclosure: Nothing to disclose.

 
 
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