114 Childhood Disintegrative Disorder (299.1)

Introduction

• This disorder is also known as Heller’s syndrome for the educator Theodore Heller who discovered the disorder in 1908 (Hoffman, 2009).
• However, the research on this disorder is limited and rare.

DSM-IV-TR criteria

• A. Apparently normal development for at least the first two years after birth as manifested by the presence of age- appropriate verbal and nonverbal communication, social relationship, play, and adaptive behavior.
• B. Clinically significant loss of previously acquired skills (before the age 10 years) in at least two of the following areas:
  Expressive or receptive language, Social skills or adaptive behavior, Bowel or bladder control, Play, Motor skills.
• C. Abnormalities of functioning in at least two of the following:
  • Qualitative impairment in social interaction (e.g., impairment in nonverbal behaviors, failure to develop peer relationships, lack of social or emotional reciprocity).
  • Qualitative impairments in communication (e.g., delay or lack of spoken language, inability to initiate or sustain a conversation, stereotyped and repetitive use of language, lack of varied make-believe play).
  • Restricted, repetitive, and stereotyped patterns of behavior, interest and activities, including motor stereotypes and mannerisms.
• D. The disturbance is not better accounted for by another specific pervasive developmental disorder or by schizophrenia.

Associated features

A child’s development progresses around the same speed as his/her peers, but still he/she will develop their skills at their own rate. A diagnosis of CDD should be considered with either development stops or begins to decline. A parent might notice that their child is no longer toilet trained. The child may lose the ability to speak normally (expressive or receptive language) or walk. Parents may notice that their child does not play as he/she did before. With CDD, a child slowly begins to lose both previously learned skills and the ability to learn new ones. Control over bowel and bladder processes, and play skills are also known to be correlated with the development of CDD. This typically occurs after the first 2 years but prior to 10 years of age.

Children with childhood disintegrative disorder are usually linked with severe mental retardation. EEG abnormalities and seizure disorders increases with Childhood Disintegrative Disorder. CDD can also be associated with certain medical conditions such as metachromatic leukodystrophy, Schilder’s disease, tuberous sclerosis, and nuerolipidoses (Hoffman, 2009).

Symptoms of CDD are more commonly diagnosed between 3 – 5 years of age. However, symptoms can onset rapidly within days or weeks or they can onset gradually over weeks to even months (Hoffman, 2009).

This disorder is sometimes misdiagnosed as autism. Autism is by far the more common of the two and is slightly different. The symptoms of CDD occur more rapidly. The skills are lost in shorter time period. Autism usually presents itself much sooner than CDD tends to.

Child vs. adult presentation

This disorder follows a period of approximately two years of normal development with regression occurring in multiply areas of functioning. After two years of life, but before ten years, the child’s loss of previously required skills are clinically and significantly lost. This usually occurs before the age of ten and typically does not occur after the age of ten and adulthood. The age of onset in most cases is between the ages 3 and 4 years and this condition may develop abruptly. Increased activity levels, irritability, and anxiety followed by a loss of speech and other skills are indications that help parents identify this disorder and seek treatment.

Gender and cultural differences in presentation

Researcher had thought that CDD was the same in boys and girls, but it has been found to be four times more common in boys than girls. The girls were misdiagnosed and they had the Retts Disorder.

CDD has shown to be sporadic in families that have not been diagnosed with other members showing signs and symptoms of this disorder (Hoffman, 2009).

Epidemiology

Statistical data has been difficult to compile due to the variable diagnostic criteria used. It has been found that it is at least one tenth as common as autistic disorder. It is estimated that there is one case in 100,000 of boys. It is also estimated that it is occurring in one girl to four to eight boys. In one study, it is shown that 1.7 per 100,000 subjects have Childhood Disintegrative Disorder. CDD it is said to be rare and has a prevalence 60 times less than autism.

The onset can be insidious or abrupt. Pre-monitory signs include increased activity levels, irritability, and anxiety followed by a loss of skills. The child may also lose interest in his environment. The loss of skills usually reaches a plateau, after which there may be some limited improvement. The loss of skills is often progressive, especially when the disorder is associated with a neurological condition.

Deterioration does reach a plateau with CDD but produces minimal gains and a “limited recovery.” Some cases do show deterioration to be progressive but this is only apparent in a minority of patients (Hoffman, 2009).

Etiology

Etiology of childhood disintegrative disorder has not been determined. It has been connected with other neurological conditions such as tuberous sclerosis, seizures and metabolic disorder.There is some evidence that CDD is linked to insult to a growing central nervous system ,however, this has not been proven inclusively.

Genetic studies are limited providing inconclusive results as to a specific abnormal gene that would identify a family trigger (Hoffman, 2009).

Empirically supported treatments

There is currently no cure for CDD. Because of the neurological complications such as epilepsy occur the children with CDD function at a severe to profound level of mental retardation, an approach from multiple disciplines must be used. Although their are no medications that can reverse the negative affects of CDD, there is medication available that can control associated behaviors such as aggression, seizures and iterative movements. Behavior therapy can also be used help treat CDD. The treatment for CDD is very similar to Autism and even with the best treatment the outcome is usually negative.

Some parents choose not to go the usual drug route and add various forms of therapy such as art or music therapy. Parents should be skeptical, however, of these added therapies because they are not very well supported and as noted above, the prognosis of CDD is not a good one.