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Childhood disintegrative disorder is a condition in which children develop normally until age 3 or 4, but then demonstrate a severe loss of social, communication and other skills.

Doctors sometimes confuse this disorder with late-onset autism. Both conditions involve normal development followed by significant loss of language, social, play and motor skills. Childhood disintegrative disorder and autism are among several disorders known as pervasive developmental disorders or autism spectrum disorders.

Autism typically occurs at an earlier age than childhood disintegrative disorder. There's also a more dramatic loss of skills with childhood disintegrative disorder and a greater likelihood of mental retardation. In addition, childhood disintegrative disorder is far less common than autism.

Treatment for childhood disintegrative disorder involves a combination of medications, behavior therapy and other approaches.

Children with childhood disintegrative disorder typically show the following signs and symptoms:

Normal development for at least the first two years of life
This includes normal development of age-appropriate verbal and nonverbal communication, social relationships, and motor, play and self-care skills.

Significant loss of previously acquired or learned skills
This loss occurs before age 10, 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 of normal function or impairment
This lack or impairment occurs in at least two of the following areas:

• Social interaction. This may include impairment in nonverbal behaviors, failure to develop peer relationships, and lack of social or emotional reciprocity — an inability to share, recognize, understand and respond to social cues and interactions or to feelings of others.
• Communication. This may include delay or lack of spoken language, inability to initiate or sustain a conversation, stereotyped and repetitive use of language, and lack of varied imaginative or make-believe play.
• Repetitive and stereotyped patterns of behavior, interests and activities. This may include hand flapping, rocking, spinning (motor stereotypes and mannerisms); development of specific routines and rituals; difficulty with transitions or changes in routine; maintaining a fixed posture or body position (catatonia); and preoccupation with certain objects or activities.

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, or if you suspect that your child has gradually shown a loss in any area of development, talk to your doctor.

There's no known cause of childhood disintegrative disorder, also known as Heller's syndrome. Most experts agree that there's likely a genetic basis for autism spectrum disorders. The theory is that an abnormal gene is switched on in the early stages of development, before birth, and that this gene affects other genes that coordinate a child's brain development. Environmental exposures, such as to a toxin or infection, may contribute to these effects.

It's also possible that an autoimmune response may play a role in the development of childhood disintegrative disorder. In an autoimmune response, your body's immune system perceives normal body components as foreign and attacks them.

Comprehensive medical and neurological examinations in children diagnosed with childhood disintegrative disorder seldom uncover an underlying medical or neurological cause. Although the occurrence of epilepsy is higher in children with childhood disintegrative disorder, experts don't know whether epilepsy plays a role in causing the disorder.

Childhood disintegrative disorder has also been associated with:

• Tuberous sclerosis. In this condition, noncancerous (benign) tumors grow in the brain.
• Lipid storage diseases. In this rare group of inherited metabolic disorders, a toxic buildup of excess fats (lipids) occurs in the brain and nervous system.
• Subacute sclerosing panencephalitis. This chronic infection of the brain is caused by a form of the measles virus that results in brain inflammation and the death of nerve cells.

Further studies are needed to investigate the causes of childhood disintegrative disorder, but this is difficult due to the limited number of children diagnosed with the disorder.

Developmental screenings are usually performed at regular well-child visits. But even if you specifically want your child's social and cognitive development evaluated, you're likely to start by first seeing your child's regular doctor. If after preliminary testing, your child's doctor suspects a developmental disorder, you'll probably be referred to a team of childhood development specialists for more detailed developmental testing.

Here's some information to help you get ready for your initial appointment, and what to expect from your doctor.

What you can do

• Write down any signs and symptoms you've noticed in your child, including any that may seem unrelated to growth and development.
• Write down key personal information, including details and dates of when your child reached various milestones, if you have them. It may help to bring along a baby book or other record of your child's growth and development. At some point, family home videos may help a doctor understand what your child was like before the onset of symptoms. Also, let your doctor know of any history in your family of developmental disorders.
• Make a list of all medications, as well as any vitamins or supplements, that your child is taking.
• Take a family member or friend along, if possible. Sometimes it can be difficult to soak up all the information provided to you during an appointment. Someone who accompanies you may remember something that you missed or forgot.
• Write down questions to ask your doctor.

List your questions from most important to least important in case your time with your doctor runs out. 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 is the best course of action 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 you're referring me to experienced in diagnosing or treating autism spectrum disorders?
• Does my child need medication? If so, is there a generic alternative to the medicine you're prescribing?
• Are there any brochures or other printed material that I can take home with me? What Web sites do you recommend visiting?
• What local and regional resources are available to me and my family?

In addition to the questions that you've prepared to ask your doctor, don't hesitate to ask questions during your appointment at any time that you don't understand something.

What to expect from your doctor
Your doctor is likely to ask you a number of questions. Being ready to answer them may reserve time to go over any points you want to spend more time on. Your doctor may ask:

• When did your child first begin experiencing symptoms?
• Have your child's symptoms been continuous, or intermittent?
• How severe are your child's symptoms?
• What, if anything, seems to improve your child's symptoms?
• What, if anything, appears to worsen your child's symptoms?

What you can do in the meantime
While you're waiting to see your doctor, keep in mind that childhood disintegrative disorder is a rare disorder. Furthermore, if your child is eventually diagnosed with an autism spectrum disorder, remember that there are therapies and resources available. If you've noticed that a set schedule helps your child know what to expect and prevents outbursts of emotion or temper tantrums, consider making a regular routine a priority.

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. The purpose of a developmental screening is to identify whether your child has the signs or symptoms of a developmental delay and needs referral for a comprehensive evaluation.

Developmental screening tools are designed to use parent reports and observations along with direct observations by a doctor of your child's language, social, motor, play and self-help skills to determine if they're developing normally.

If your doctor sees signs or symptoms of a developmental disorder or delay during the screening, your child will be referred to a specialist for a formal evaluation and diagnosis. Further referrals may be needed as a result of this evaluation.

A formal and comprehensive evaluation is performed by a team of doctors and health care specialists that usually includes 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 birth, developmental, medical and family health history with special emphasis on when developmental milestones were reached and the age at which previously learned skills were lost. You may find it helpful to look at baby books, family photo albums and videotapes so that you can accurately remember when your child reached specific developmental milestones.
• Neurological examination. A neurologist performs a physical examination to look for abnormalities in your child's brain and nervous system. Your neurologist may order tests including computerized tomography (CT), magnetic resonance imaging (MRI) and an electroencephalogram (EEG). CT and MRI are imaging techniques that provide doctors with pictures of the brain's anatomy. An EEG is a test that measures the brain's electrical activity to determine the presence of seizures.
• 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 examination to check for hearing loss or hearing-related problems.
• Vision test. This examination 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.

Developmental tests
Your doctor will also want to have your child undergo a number of developmental tests to measure how your child performs skills compared with other children of the same age. These tests will measure the following skills:

• Large-motor skills. This includes walking, running, jumping, throwing and climbing.
• Fine-motor skills. This is the use of the 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 tactile (touch) experiences in the environment.
• Play skills. This involves how your child plays with toys and other objects as well as 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 attention, following directions, thinking, concentration and problem-solving abilities.

The results of your child's tests will allow your health care team to look for any underlying medical or neurological conditions that may be causing your child's signs and symptoms, rule out other conditions or diseases that may share the same features as childhood disintegrative disorder, and make an accurate diagnosis. An accurate diagnosis helps the team of health professionals develop the best treatment plan for your child.

There's no cure for childhood disintegrative disorder. Treatment for the disorder is basically the same as for autism. Treatment options may include:

• Medications. There are no medications that directly treat childhood disintegrative disorder. However, severe behavior problems such as aggression and 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 learn or relearn 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 very important in behavior therapy.

The outcome for children with childhood disintegrative disorder is usually very poor, worse than for children with autism. The loss of language, cognitive, social and self-care skills tends to be severe and permanently disabling. As a result, children with the disorder 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.

Complementary therapies may include special diets, vitamin and mineral supplements, art therapy, music therapy, and sensory integration, a therapy technique used by occupational therapists to help children adapt to normal sensory experiences in the environment.

It's important to thoroughly investigate complementary treatment approaches and discuss them with your doctor because there's limited scientific proof that they're effective.

Child disintegrative disorder is a rare, devastating condition. As a parent or family member affected by this disorder, you'll find it important to have support to cope with the condition. Here are some suggestions:

• Learn about the disorder. There's limited information about the cause of childhood disintegrative disorder. However, learning about treatment options will give you the knowledge to be an advocate for your child.
• Find a team of trusted professionals. You'll find it helpful to have a knowledgeable team of doctors, therapists and teachers to guide you as you make decisions related to your child's care. They can help you keep abreast of new medications and therapies so that you can give your child the best available treatments.
• Seek support from other families. Other families who have children with autism spectrum disorders may be a source of emotional support and provide encouragement and helpful suggestions. Support groups are available in many communities for parents and families with children who have autism spectrum disorders.
• Take time for yourself and other family members. Caring for a child with child disintegrative disorder can be a full-time job that places stress on your marriage and family life. It's important to take care of yourself and spend time with other family members. Schedule time to participate in family activities, a favorite hobby, exercise or just relax. It may also be beneficial to seek respite care on a regular basis in order to prevent caregiver burnout.