Childhood Disintegrative Disorder (Heller's Syndrome)

This PatientPlus article is written for healthcare professionals so the language may be more technical than the condition leaflets. You may find the abbreviations list helpful.

Synonyms: CDD, dementia infantalis, disintegrative psychosis, social development regression

Childhood disintegrative disorder (CDD) or Heller's syndrome is a pervasive developmental disorder (PDD). PDDs are a spectrum of behavioural problems associated with autism and autism-like syndromes and may also be referred to as autistic spectrum disorders (ASD).

Childhood disintegrative disorder (CDD) differs from classical autism in that it occurs in children who have had previously normal development who then appear to regress.[1] Some consider the condition to be a childhood dementia, suggesting that brain deposition of amyloid is the cause of the condition, although no clear-cut pathophysiology is proven.[2]

This is extremely rare with an incidence of 2 per 100,000 children.[3]

  • Prevalence of pervasive developmental disorder (PDD) is approximately 30 per 10,000 children and only 1 child out of 175 children with PDD has childhood disintegrative disorder (CDD).
  • This makes it sixty times less frequent than autism.[4]

Symptoms

Affected children show clinically significant losses of earlier acquired skills in at least two of the following:

  • Language, social skills or adaptive behaviour
  • Bowel or bladder control
  • Play
  • Motor skills

The child presents after at least two years of apparently normal development. This occurs usually between the ages of 3 to 4 years, but generally before the age of 10 years.

  • The onset may be abrupt or gradual.
  • Usually parents and professionals have noticed no previous abnormalities in terms of language and non-verbal communication, social relationships, play, adaptive behaviour or emotional development.
  • A typical presentation would be a child able to communicate in two- or three-word phrases, losing this ability. They would then stop talking altogether or retain only fragments of their former speech.
  • There may be social and emotional problems, such as a child previously happy to be cuddled becoming averse to physical contact.

The patient shows similar social and communication deficits as those associated with autism. However, it is clearly distinguishable from autism on the basis of the normal antecedent developmental history.

  • Children with childhood disintegrative disorder (CDD) are more likely than autistic children to show fearfulness and early stereotypical behaviours.[5]
  • Epilepsy occurs much more frequently in children with CDD compared with autism.[6]
  • The degree of intellectual impairment in children with CDD appears to be more 'even' than when compared with autism, although the overall degree of impairment and outcome appears to be similar in both groups.

Signs

  • There are no specific confirmatory signs and physical abnormalities are not usually found, although there may be minor abnormalities such as microcephaly or motor incoordination.
  • Careful CNS examination including fundoscopy is important to detect other possible causes of the symptoms.

Any of the other pervasive developmental disorders (PDDs), childhood schizophrenia, or causes of mental retardation:

Tests to exclude reversible underlying causes of the condition:

  • FBC
  • U&E/glucose
  • LFT
  • TFT
  • Heavy metal levels
  • HIV testing
  • Urine screening for aminoaciduria

These are normally carried out during initial assessment in secondary care. EEG, MRI or CT scan are likely to be used to ensure an alternative diagnosis has not been missed.

General measures

Therapy is given, as with autism, tailored to the child's disabilities, needs and educational objectives.

Pharmacological

  • Risperidone may be effective in improving behavioural symptoms in pervasive developmental disorder (PDD),[3] but there is little evidence of specific efficacy in childhood disintegrative disorder (CDD), due to its rarity.[7]
  • There is a significant risk of neuroleptic malignant syndrome with the use of neuroleptic medication.[8]
  • Other antipsychotics, stimulants and selective serotonin reuptake inhibitors (SSRIs) may be used in expert hands to help in the control of problematic behaviour.
  • Epilepsy may require antiepileptic medication.
  • Loss of skills often reaches a plateau and then there may be some limited improvement.
  • In other cases there is progressive loss of skills.
  • Those with moderate-to-severe mental retardation or with an inability to communicate tend to do worse than those left with a higher IQ and some verbal communication.[8]
  • The disorder is lifelong with long-term impairment of behavioural and cognitive functioning.
  • Risk of seizures increases throughout childhood, peaking at adolescence and seizure threshold may be lowered by SSRIs and neuroleptics.

In 1908 a Viennese remedial teacher, Theodor Heller, described six children who had insidiously developed a severe mental regression between the 3rd and 4th years of life after previously normal development. He called it dementia infantilis.

Further reading & references

  1. Zwaigenbaum L, Szatmari P, Mahoney W, et al; High functioning autism and Childhood Disintegrative Disorder in half brothers. J Autism Dev Disord. 2000 Apr;30(2):121-6.
  2. Nunn K, Williams K, Ouvrier R; The Australian Childhood Dementia Study. Eur Child Adolesc Psychiatry. 2002 Apr;11(2):63-70.
  3. Fombonne E; Epidemiological surveys of autism and other pervasive developmental disorders: an update. J Autism Dev Disord. 2003 Aug;33(4):365-82.
  4. Fombone E; Prevalence of childhood disintegrative disorder. Autism. 2002 Jun;6(2):149-57.
  5. Kurita H, Koyama T, Setoya Y, et al; Validity of childhood disintegrative disorder apart from autistic disorder with speech loss. Eur Child Adolesc Psychiatry. 2004 Aug;13(4):221-6.
  6. 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.
  7. McDougle CJ, Holmes JP, Bronson MR, et al; Risperidone treatment of children and adolescents with pervasive developmental disorders: a prospective open-label study. J Am Acad Child Adolesc Psychiatry. 1997 May;36(5):685-93.
  8. Bernstein BE; Pervasive Developmental Disorder: Childhood Disintegration Disorder. eMedicine, November 2009.

Disclaimer: This article is for information only and should not be used for the diagnosis or treatment of medical conditions. EMIS has used all reasonable care in compiling the information but make no warranty as to its accuracy. Consult a doctor or other health care professional for diagnosis and treatment of medical conditions. For details see our conditions.

Original Author:
Dr Sean Kavanagh
Current Version:
Last Checked:
21/06/2010
Document ID:
2248 (v21)
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