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PostSubject: Childhood disintegrative disorder   Childhood disintegrative disorder EmptyThu Jan 20, 2011 1:14 pm

Childhood disintegrative disorder
Filed under: Children's Health
Childhood disintegrative disorder, also known as Heller's syndrome, is a
condition in which children develop normally until ages 2 to 4, but
then demonstrate a severe loss of social, communication and other

Childhood disintegrative disorder is very much like autism. Both are
among the group of disorders known as pervasive developmental disorders,
or autism spectrum disorders. And both involve normal development
followed by significant loss of language, social, play and motor skills.
However, childhood disintegrative disorder typically occurs later than
autism and involves a more dramatic loss of skills. 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:

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 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 to
your doctor.


There's no known cause of childhood disintegrative disorder. 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.

Childhood disintegrative disorder often occurs along with other conditions, including:

* 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.

It's unknown whether these conditions play a part in triggering
childhood disintegrative disorder or share genetic or environmental risk

Preparing for your appointment

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 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 recorded or
can recall 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 of
developmental disorders in your family.
* 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'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 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 websites 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 anytime during your appointment.

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 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?

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

Tests and diagnosis

Diagnostic criteria
For a child to be diagnosed with childhood disintegrative disorder, he
or she must meet the criteria spelled out in the Diagnostic and
Statistical Manual of Mental Disorders (DSM). This manual is published
by the American Psychiatric Association and is used by mental health
providers to diagnose mental conditions and by insurance companies to
reimburse for treatment.

Diagnostic criteria for childhood disintegrative disorder include:

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

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 or loss of normal function
This lack or loss 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
* 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

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. 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, your child will be referred to one or more specialists for a
formal 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 examination. A neurologist performs a physical
examination to look for abnormalities in your child's brain and nervous
system. Your neurologist may order imaging tests of the brain's anatomy
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 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
* 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 the ability to pay
attention, follow directions, think, concentrate and solve problems.

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.

Treatments and drugs

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

* 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 important in behavior therapy.

The outcome for children with childhood disintegrative disorder is
usually 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.

Alternative medicine

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 proven. However, some anecdotal reports indicate that some
therapies may be helpful on a case-by-case basis. Scientific studies
are ongoing.

Complementary therapies for disorders on the autism spectrum 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.

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 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
* 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 your spouse or significant other,
as well as other family members. Schedule time to participate in family
activities, enjoy 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.

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