Definition of Heller’s syndrome (Childhood disintegrative disorder)
Childhood disintegrative disorder is also known as Heller’s syndrome. It’s a very rare condition in which children develop normally until at least two years of age, but then demonstrate a severe loss of social, communication and other skills.
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.
Treatment for childhood disintegrative disorder involves a combination of medications, behavior therapy and other approaches.
Symptoms of Heller’s syndrome (Childhood disintegrative disorder)
Children with childhood disintegrative disorder typically show a dramatic loss of previously acquired skills in two or more of the following areas:
- Language, including a severe decline in the ability to speak and have a conversation
- Social skills, including significant difficulty relating to and interacting with others
- Play, including a loss of interest in imaginary play and in a variety of games and activities
- Motor skills, including a dramatic decline in the ability to walk, climb, grasp objects and perform other movements
- Bowel or bladder control, including frequent accidents in a child who was previously toilet trained
Loss of developmental milestones may occur abruptly over the course of days to weeks or gradually over an extended period of time.
When to see a doctor
Children typically develop at their own pace, but any loss of developmental milestones is cause for concern. If your child has suddenly lost previously acquired language, social, motor, play, thinking (cognitive) or self-help skills, such as toilet training and feeding, contact your doctor. In addition, if you suspect that your child has gradually shown a loss in any area of development, talk with your doctor.
The cause of childhood disintegrative disorder is not known. There is not enough research on this rare disorder to determine a cause.
Preparing for your appointment
A pediatrician usually performs developmental screenings at regular well-child visits. If you think your child may have a developmental disorder, talk with the pediatrician. If your child’s doctor suspects a developmental disorder, you’ll probably be referred to a team of childhood development specialists for more detailed testing.
What you can do
To get the most from your visit to the doctor, prepare in advance:
- Make a list of any signs and symptoms you’ve noticed in your child, including any that may seem unrelated to growth and development.
- Bring key personal information, including details and dates of when your child reached various milestones. It may help to bring along a baby book or other record of your child’s growth and development. Family videos may help a doctor understand what your child was like before the onset of symptoms. Also, let your doctor know of any family history of developmental disorders.
- Make a list of all medications, as well as any vitamins, herbs or supplements that your child is taking.
- Take a family member or friend along who is familiar with the child, if possible. Someone who accompanies you may remember something that you missed or forgot.
- Make a list of questions to ask your doctor. List your most important questions first, in case time runs out.
- Take a notebook or electronic device with you. Use it to note important information during your visit.
For childhood disintegrative disorder, some basic questions to ask your doctor include:
- What is likely causing my child’s symptoms? Are there other possible causes?
- What kinds of tests will my child need?
- What are the potential outcomes for my child?
- What’s the best treatment for my child?
- What are the alternatives to the primary approach you’re suggesting?
- What is the next step?
- Should my child see a specialist? Which one? Is the specialist to whom you’re referring me experienced in diagnosing or treating childhood disintegrative disorder?
- Does my child need medication? If so, is there a generic alternative to the medicine you’re prescribing?
- Are there any printed materials that I can have? What websites do you recommend?
- What resources are available to me and my family?
Don’t hesitate to ask questions anytime during your appointment.
What to expect from your doctor
Be prepared to answer questions from your doctor. Your doctor might ask questions such as:
- When did your child begin experiencing these symptoms?
- Have your child’s symptoms been continuous or intermittent?
- How severe are your child’s symptoms? Are they becoming more severe?
- What, if anything, seems to improve your child’s symptoms?
- What, if anything, appears to worsen your child’s symptoms?
Tests and diagnosis
For a child to be diagnosed with childhood disintegrative disorder, he or she must meet the criteria in the Diagnostic and Statistical Manual of Mental Disorders (DSM) published by the American Psychiatric Association, summarized below. This manual is used by mental health providers to diagnose mental conditions and by insurance companies to reimburse for treatment.
Normal development for at least the first 2 years of life
Normal development includes age-appropriate verbal and nonverbal communication, social relationships, and motor, play and self-care skills.
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.
Your child’s doctor should perform developmental screenings at well-child visits or if you suspect that there’s a delay in your child’s development or a loss of age-appropriate skills.
If your doctor sees signs or symptoms of a developmental disorder or delay, your child may be referred to one or more specialists for evaluation and diagnosis. These may include a child psychologist, a child psychiatrist, a doctor who specializes in conditions of the brain and nervous system (neurologist), a pediatrician specializing in behavioral and developmental problems, a hearing specialist (audiologist), a speech therapist, a physical therapist, and an occupational therapist.
These professionals may perform some or all of the following tests:
- Medical history. This is an extensive interview with special emphasis on when developmental milestones were reached and the age at which previously learned skills were lost. Baby books, family photo albums and videotapes may help you accurately remember when your child reached specific developmental milestones.
- Neurological exam. A neurologist performs a physical exam to look for abnormalities in your child’s brain and nervous system. Your neurologist may order imaging tests of the brain and tests that measure the brain’s electrical activity.
- Genetic tests. These tests usually involve a blood test to study your child’s chromosomes and determine if there’s an inherited family condition or disease.
- Communication and language tests. In-depth tests can measure how your child communicates with words and nonverbal gestures (facial expressions, posture, rhythm of speech, gestures) and how your child interacts with others (understanding words, body language, social cues, tone of voice).
- Lead screening. A blood test is performed to check for lead poisoning. Lead exposure in children causes damage to the nervous system, developmental delays, hearing loss and behavior problems.
- Hearing (audiology) test. This is an exam to check for hearing loss or hearing-related problems.
- Vision test. This exam checks for vision loss or vision-related problems.
- Behavior inventory. Doctors use formal rating scales and checklists to document the occurrence of specific behaviors, such as repetitive movements, oversensitive or undersensitive responses to normal sights, sounds and touch sensations in the environment, as well as social interactions and play skills.
Your doctor may also want your child to have several developmental tests to measure how your child performs skills compared with other children of the same age. These tests measure the following skills:
- Large motor skills. This includes walking, running, jumping, throwing and climbing.
- Fine motor skills. This is the use of hands and fingers for the manipulation of small objects, such as buttons, pencils and scissors.
- Sensory skills. This is how the brain and body organize and respond to a variety of everyday sounds, sights, smells, tastes and touch (tactile) experiences in the environment.
- Play skills. This involves how your child plays with toys and other objects as well as with children and adults. The style and type of play behavior (imaginative, varied, purposeful, goal-directed) are observed.
- Self-care skills. These skills include toileting, feeding, dressing and brushing teeth.
- Cognitive skills. These skills include the ability to pay attention, follow directions, think, concentrate and solve problems.
Test results allow your health care team to look for underlying medical or neurological conditions that may be causing your child’s signs and symptoms, rule out other conditions or diseases, and make an accurate diagnosis. Then the team can develop the best treatment plan for your child.
Treatments and drugs
There’s no cure for childhood disintegrative disorder. Treatment for the disorder is basically the same as for autism. Treatments to relieve or lessen symptoms may include:
- Medications. There are no medications that directly treat childhood disintegrative disorder. However, severe behavior concerns that can threaten safety, such as excessive impulsiveness or repetitive movements, may sometimes be controlled by medications for anxiety or depression, or antipsychotic medications. Anticonvulsant drugs may help control epileptic seizures.
- Behavior therapy. This therapy technique may be used by psychologists, speech therapists, physical therapists and occupational therapists, as well as parents, teachers and caregivers. Behavior therapy programs may be designed to help your child relearn or minimize the loss of language, social and self-care skills. These programs use a system of rewards to reinforce desirable behaviors and discourage problem behavior. A consistent approach among all health care team members, caregivers and teachers is important in behavior therapy.
Although abilities and behaviors vary greatly for children with childhood disintegrative disorder, the outcome is worse than for children with autism. The loss of language, cognitive, social and self-care skills tends to be severe and unlikely to improve. Children with the disorder generally need lifelong support with the activities of daily living, and may eventually need residential care in a group home or long-term care facility.
Some parents choose to supplement traditional medical treatments and behavior therapy with alternative therapies. The safety and effectiveness of alternative therapies for autism spectrum disorders have not been proved.
Always talk with your doctor before trying a new therapy. Your doctor can help you understand the risks and benefits, and alert you to any possible side effects or interactions with existing medications.
Coping and support
Child disintegrative disorder is a rare, serious condition. As a parent or family member affected by this disorder, you’ll need support to cope with the condition. Here are some suggestions:
- Learn about the disorder. Although there’s limited information about childhood disintegrative disorder, learn as much as you can. Then you can make the best choices and be an advocate for your child.
- Get advice from professionals. Work with an experienced team of doctors, therapists and teachers, so they can guide you as you make decisions related to your child’s care. They can help you keep abreast of new medications and therapies so your child receives the best available treatments.
- Seek support from other families. Other families who have children with autism spectrum disorders (ASD) may be a source of emotional support and provide encouragement and helpful suggestions. Many communities have support groups for parents and families with children who have ASD.
- Take time for yourself and other family members. Caring for a child with childhood disintegrative disorder can be a full-time job that stresses your marriage and family life. It’s important to take care of yourself and spend time with your other loved ones and friends. Schedule time for family activities, enjoy a favorite hobby, exercise or just relax. It may also help to seek respite care on a regular basis to prevent caregiver burnout.