Heller’s Syndrome is a rare developmental disorder characterized by late onset of developmental delays in language, social function, and motor skills. CDD has some similarity to autism and is sometimes considered a low-functioning form of it. CDD is similar to dementia skills already learned and acquired suddenly disappear and regress; the difference is CDD is occurring in toddlerhood, commonly in 3 years of age.
Childhood disintegrative disorder is part of a larger category called autism spectrum disorder. However, unlike autism, someone with childhood disintegrative disorder shows severe regression after several years of normal development and a more dramatic loss of skills than a child with autism does. In addition, childhood disintegrative disorder can develop later than autism does.
History of Heller’s Syndrome
The disorder was first described in 1908 by Austrian educator Thomas Heller. However, because the disorder is rare, occurring in one in every 50,000–100,000 individuals, it was not officially recognized as a developmental disorder until the 1990s. Today, CDD is classified as a pervasive developmental disorder, a group that also contains the autism spectrum disorders and Rett syndrome. Similar to autism spectrum disorders, CDD affects boys more frequently than girls.
The exact cause of this disorder is not known. Many things may play a role, such as:
- A build-up of fat in the brain and nervous system
- Infections or tumors in the brain
- Abnormal activity in the brain
- Certain genes or chemical imbalances in the body
A child with CDD is also more likely to have food allergies, attention deficit hyperactivity disorder, or epilepsy. How these are related is not yet known.
Symptoms of Heller’s Syndrome
Affected children show clinically significant losses of earlier acquired skills in at least two of the following:
- Expressive language skills
- Receptive language skills
- Social skills and self-care skills
- Bowel or bladder control
- Play skills
- Motor skills
The abnormal function also occurs in at least two of:
- Social interaction
- Repetitive interests or behaviors
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.
- It can be severe enough that children are aware themselves of the regression, and may ask what is happening to them.
- Usually, parents and professionals have not previously noticed abnormalities in terms of language and non-verbal communication, social relationships, play, adaptive behavior or emotional development.
- A typical presentation would be of a child who is able to communicate in two- or three-word phrases losing this ability. They would eventually 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.
- Some children describe or seem to be reacting to hallucinations.
Significant loss of previous skills
Loss of previous skills, after at least two years of normal development, in at least two of the following areas:
- Ability to say words or sentences (expressive language)
- Ability to understand verbal and nonverbal communication (receptive language)
- Social skills and self-care skills (adaptive behavior)
- Bowel and bladder control
- Play skills
- Motor skills (ability to voluntarily move the body in a purposeful way)
Lack or loss of normal function
Lack or loss of normal function occurs in at least two of the following areas:
Social interaction: This may include a wide range of problems with social connectedness. Your child may have difficulty with nonverbal interactions, may not make friends with peers, and may lack the ability to share, recognize, understand and respond to others’ social cues and feelings.
Communication: This may include a delay or loss in the ability to speak or to start and maintain conversations. Your child also may use the same words over and over, and may not “get” imaginative or make-believe play.
Repetitive and stereotyped patterns of behavior, interests, and activities: Your child may flap his or her hands, rock or spin (motor stereotypes and mannerisms); may become attached to specific routines and rituals, or may have difficulty with transitions or changes in routine. Many children with the disorder develop a fixed posture or body position (catatonia) and may become preoccupied with certain objects or activities.
Diagnosis of Heller’s Syndrome
CDD is most commonly diagnosed when the parents of the affected child consult the pediatrician about the child’s loss of previously acquired skills. The doctor will first give the child a medical examination to rule out epilepsy or other medical conditions.
The child’s head may also be x rayed to rule out head trauma or a brain tumor. Following the medical examinations and tests, the child will be referred to a psychiatrist who specializes in treating children and adolescents. The psychiatrist will then make the differential diagnosis of CDD.
To be diagnosed with CDD, a child must show loss or regression in at least two of the areas listed below. Usually, regression occurs in more than two areas. These are:
- Receptive language skills (language understanding)
- Expressive language skills (spoken language)
- Social or self-help skills
- Play with peers
- Motor skills
- Bowel or bladder control, if previously established
CDD must be differentiated from autism and such other specific pervasive developmental disorders as Rett’s disease. It also must be differentiated from schizophrenia. One of the differences between CDD and other PDDs is that to be diagnosed with CDD, a child must develop normally for at least two years before the loss of skills occurs, and the loss must occur before age ten.
Parents’ reports of the child’s development, records in baby books, medical records kept by the child’s pediatrician, and home movies are often used to document normal development through the first two years of life.
Treatment of Heller’s Syndrome
There is no cure for CDD, but early intervention and therapy is essential to lessen the severity of the symptoms. Treatment for CDD is about slowing the loss of acquired skills and therapy to re-learn what has been lost. Some children respond better than others, but every little bit counts. Before treatment begins, the child must be evaluated and diagnosed.
The therapies are the same as those used for the treatment of autism. Medication such as anti-convulsant may be used is seizures are diagnosed, and antipsychotics may be prescribed to control other severe behavioral problems that may develop. Therapy for CDD includes:
Behavior therapy is a type of therapy that is used to slow down the loss of skills and help re-learn when possible. Qualified, certified professionals develop plans for slowing loss and re-learning using a system of rewards for desired behavior. Speech therapists, occupational therapists, and physical therapists have different levels of expertise to deliver customized therapy. A behavior analysis will first study the child’s behaviors and then use that analysis to develop a care plan.
This therapy is designed to provide sensory enrichment that can ease the symptoms of CDD. Sensory enrichment therapy is used to better the quality of life for those with spectrum disorders. The exact type of sensory enrichment is developed by a specialist to provide the right type of enrichment for a customized experience. This therapy is not designed to slow down the loss of skills or re-learn skills that are lost; it is meant to provide a means of interaction and communication that improves quality of life.
Family and In-Home Care Givers
Children with this disorder can respond well to therapy; it is not known why some respond better than others. This condition is rare; research is based on the limited number of cases available to study. Support for parents of children with CDD is essential. Support groups for families are a great resource, they can help in many ways, and they are an invaluable source of understanding and information.
Family therapists are also an invaluable resource for families of children diagnosed with CDD. The diagnosis can be overwhelming for loved ones, talking with a qualified family therapist can help everyone through this emotional time. Family therapy or group talk therapy can provide an outlet and support for the all the changes the family is facing after diagnosis.
There are no medications available to directly treat CDD. Antipsychotic medications are used to treat severe behavior problems like aggressive stance and repetitive behavior patterns. Anticonvulsant medications are used to control seizures.
Prevention of Heller’s Syndrome
Since the causes of CDD are unknown, there are no known ways to prevent this disorder.