On Childhood Disintegrative Disorder

We conclude our discussion on the Pervasive Developmental Disorders with a brief overview of Childhood Disintegrative Disorder.


Childhood Disintegrative Disorder (CDD), is also known as Heller’s Syndrome and Disintegrative Pschosis.  It is a rare Pervasive Developmental Disorder that affects about 1 in 100,000 children. CDD resembles many of the other disorders on the Autism spectrum in the fact that it involves developmental delays, impairment in communication and social functioning, but most closely resembles Rett syndrome in that it almost exclusively affects boys whereas Rett syndrome almost exclusively affects girls. New research suggest that while CDD affects boys more than girls at a rate of 4 to 1, it is thought that girls diagnosed with CDD most likely should have been diagnosed with Rett. There is also further talk that in the future Rett and possibly even CDD won’t be separate diagnosis, but that they will both be collapsed into the Autistic category as low functioning forms of Autism.


Children with CDD develop normally up until about ages 2 to 4 years of age (rarely there are cases of delayed onset up to 10 years of age), and then start regressing, losing previously acquired developmental skills with in a few months to years, including language, non-verbal communication skills, motor skills and social skills.

Symptoms include:

    • Delay or lack of spoken language
    • Impairment in nonverbal behaviors
    • Inability to start or maintain a conversation
    • Lack of play
    • Loss of bowel and bladder control
    • Loss of language or communication skills
    • Loss of motor skills
    • Loss of social skills
    • Problems forming relationships with other children and family members


There are no known causes of CDD although abnormal electroencephalograms (EEG), epilepsy, Lipid storage diseases (excess build up of toxic fats in the brain and nervous system), Tuberous sclerosis (benign tumors that may grow in the brain and other vital organs) and Subacute sclerosing panencephalitis (chronic infection of the brain due to a form of the measles that damage the brain) all appear to be associated with CDD.


There is no cure for Childhood Disintegrative Disorder and the treatment for it is similar to the treatment for all of the Pervasive Developmental Disorders with the addition of trials with steroid medications to try to slow down the progress of the disorder.


Physicians will use some of the same assessment tools used to diagnose the other Pervasive Developmental disorders with the inclusion of all the symptoms listed above and impairment in normal function or impairment in at least two of the following three areas:

  • Social interaction
  • Communication
  • Repetitive behavior & interest patterns

The main symptoms to look for in diagnosing CDD is the loss of previous learned skills in at least two of these areas:

  • Expressive language skills (being able to produce speech and communicate a message)
  • Receptive language skills (comprehension of language – listening and understanding what is communicated)
  • Social skills & self-care skills
  • Control over bowel and bladder
  • Play skills
  • Motor skills

If your child has any developmental delays or starts to lose developmental functions previously learned, it is vital to talk with your physician in order to rule out  CDD or any of the Pervasive Developmental Disorders or mental retardation. The faster any illness is discovered and treatment begins, even if there is no cure, the better the prognosis or at least the slowing of the progress of the disorder. Some children with similar, yet less severe symptoms may have a learning disability or something much less serious than a Pervasive Developmental Disorder, but it is important to have everything ruled out for the best care of your child.

On Rett Syndrome

An Introduction to Rett Syndrome

 What separates Rett syndrome from the other Pervasive Developmental Disorders is that it almost exclusively affects girls, whereas Autistic Disorder affects boys at a much higher rate than girls.

Worldwide Rett Syndrome affects 1 in every 10,000 to 15,000 females of all races and ethnicity. Prenatal testing is possible for families who have had a child born with Rett, but since the chances of developing Rett is so low, the chances of a family having two children born with Rett is less than 1%. Most boys born with the genes thought to be responsible for Rett often die shortly after birth. Because Rett syndrome is thought to be caused by a mutation to the X chromosome, girls are thought to be more able to compensate for the mutation because they have two X chromosomes where boys only have one and aren’t able to compensate.

In Rett Syndrome, similar to Asperger’s, there is normal early development and then a slowing of development, distinctive hand movements, lack of purposeful use of hands, and slowed head and brain growth. Problems walking, seizures and intellectual disability are usually also present. This disorder was first described by Dr. Andreas Rett, an Austrian physician in 1966, but it wasn’t until later in 1983 that it was recognized as a disorder after an article about it was written by Swedish researcher Dr. Bengt Hagbeg.

Like all of the Pervasive Developmental Disorders, the severity of symptoms in Rett varies from child to child, but they all start with relatively normal development, although loss of muscle tone (hypotonia), jerkiness in limb movements and difficulty feeding are often noticeable even in infancy. Gradually more apparent physical and mental symptoms become apparent such as the inability to talk and loss of purposefully movement of hands which is followed by compulsive hand movements such as wringing and washing.  Other symptoms such as problems walking, crawling and lack of eye contact may also be early signs. This period of regression is often sudden. The inability to perform motor functions (Apraxia) is one of the most severe disabilities of Rett syndrome, it effects body movement, eye gaze and speech.

Early stages of Rett syndrome often resemble Autistic disorder or one of the other Pervasive Developmental Disorders.  Some symptoms may also include walking on toes, awkward gait, difficulty chewing, teeth grinding, slowed growth, sleep problems, breathing problems, air swallowing, cognitive disabilities and apnea (holding breath)..


Rett is typically diagnosed by a developmental pediatrician, pediatric neurologist or clinical neurologist using many of the same neurological, physical and psychological assessments used to diagnose the other Pervasive Developmental Disorders with the inclusion of genetic testing to look for the MECP2 mutation on the child’s X chromosome.

The Diagnostic and Statistical Manual of Mental Disorders also has these criteria for diagnosing Rett Disorder.

  • All of the following:
    • apparently normal prenatal and perinatal development
    • apparently normal psychomotor development through the first 5 months after birth
    • normal head circumference at birth
  • Onset of all of the following after the period of normal development:
    • deceleration of head growth between ages 5 and 48 months
    • loss of previously acquired purposeful hand skills between ages 5 and 30 months with the subsequent development of stereotyped hand movements (i.e., hand-wringing or hand washing)
    • loss of social engagement early in the course (although often social interaction develops later)
    • appearance of poorly coordinated gait or trunk movements
    • severely impaired expressive and receptive language development with severe psychomotor retardation


According to research, nearly all cases of Rett syndrome are due to a mutation in the metyl CpG binding protein 2 (MECP2) gene. The gene was discovered in 1999 and controls many other genes. It may also be responsible for some of the other Pervasive Developmental Disorders. This gene is needed for brain development and helps other genes increase or decrease their own unique expressions and proteins. This genes malfunction causes other genes to become abnormal. The puzzling thing is, not everyone with MECP2 mutation has Rett syndrome, so other genetic mutations are also thought to be responsible and research is ongoing. Rett syndrome is not thought to be genetic. Only about 1% of Rett syndrome cases are thought to be inherited, which means that in the overwhelming majority of cases, the gene mutations are random.


Just like all the other Pervasive Developmental Disorders, there is no cure for Rett Syndrome and treatment is pretty similar including medication and therapy to help control and minimize many of the disabling features of Rett syndrome.

Although Rett syndrome can be very disabling, many people with Rett live to be in their 40’s and 50’s and perhaps even longer . 


International Rett Syndrome Foundation: www.rettsyndrome.org

National Institute of Child Health and Human Development (NICHD): www.nichd.nih.gov

Office of Rare Diseases: www.rarediseases.info.nih.gov

Rett Syndrome Research Trust: www.rsrt.org

On Autistic Disorder

In my years in the field of mental health, I’ve had the privilege to work briefly with children who had Autistic Disorder. That brief time gave me a tremendous amount of respect for these children, those who work with them regularly as well as the parents who care for them around the clock. The degree of impairment in each child was sometimes drastically different. Some didn’t move from the same spot all day, staring out into space and rocking back and forth while others were very mobile and verbal (even if I couldn’t understand a word they were saying). Most of them were very rigid however in appearance, behavior and psychomotor activity.

If you haven’t done so already, you may want to read the post I wrote on Pervasive Developmental Disorders in order to get a better understanding of Autistic Disorder and all of the other Pervasive Developmental Disorders under the Autism Spectrum.

Autistic Disorder shares a lot in common with all the previously discussed Pervasive Developmental Disorders and is sometimes referred to as early infantile autism or childhood autism. To add to the confusion of labeling, some professionals use Autistic Disorder to describe all five of the pervasive developmental disorders (Autistic Disorder, Rett’s Disorder, Childhood Disintegrative Disorder, Asperger’s disorder, Pervasive Developmental Disorder Not Otherwise Specified) under the Autistic spectrum.

Brief Introduction to Autistic Disorder

Autistic Disorder is four times more common in boys than in girls. Children with Autistic Disorder have a moderate to severe range of communication, behavior problems and socialization abilities. Many of them also have mental retardation. It is also thought to be high genetic.

Like all of the other Pervasive Developmental Disorders, parents of children with Autistic Disorder normally notice signs within the first two to three years of life. They usually develop gradually, but sometimes the child will develop normally at first and then regress.

Early behavioral and cognitive interventions are essential in helping children with Autistic Disorder learn to improve their skills of self-care, communication and socialization. Most children with the disorder will never live independently as adults and while there is no cure, they have been reported cases of children who have appeared to recover from it.

Diagnostic Criteria for Autistic Disorder

The Diagnostic and Statistical Manual of Mental Disorders IV (DSM-IV) uses these criteria to aid in the diagnosis of Autistic Disorder.

  1. Six or more items from (1), (2), and (3), with at least two from (1), and one each from (2) and (3):
      1. qualitative impairment in social interaction, as manifested by at least two of the following:
        1. marked impairment in the use of multiple nonverbal behaviors such as eye-to-eye gaze, facial expression, body postures, and gestures to regulate social interaction
        2. failure to develop peer relationships appropriate to developmental level
        3. a lack of spontaneous seeking to share enjoyment, interests, or achievements with other people (e.g., by a lack of showing, bringing, or pointing out objects of interest)
        4. lack of social or emotional reciprocity
    1. qualitative impairments in communication as manifested by at least one of the following:
      1. delay in, or total lack of, the development of spoken language (not accompanied by an attempt to compensate through alternative modes of communication such as gesture or mime)
      2. in individuals with adequate speech, marked impairment in the ability to initiate or sustain a conversation with others
      3. stereotyped and repetitive use of language or idiosyncratic language
      4. lack of varied, spontaneous make-believe play or social imitative play appropriate to developmental level
    1. restricted repetitive and stereotyped patterns of behavior, interests, and activities, as manifested by at least one of the following:
      1. encompassing preoccupation with one or more stereotyped and restricted patterns of interest that is abnormal either in intensity or focus
      2. apparently inflexible adherence to specific, nonfunctional routines or rituals
      3. stereotyped and repetitive motor manners (e.g., hand or finger flapping or twisting, or complex whole-body movements)
      4. persistent preoccupation with parts of objects
  2. Delays or abnormal functioning in at least one of the following areas, with onset prior to age 3 years: (1) social interaction, (2) language as used in social communication, or (3) symbolic or imaginative play.
  3. The disturbance is not better accounted for by Rett’s Disorder or Childhood Disintegrative Disorder.

For more information visit http://www.autismspeaks.org

Pervasive Developmental Disorders

Pervasive Developmental Disorders (PDD) are also known as Autistic Spectrum Disorders. They include a group of five neurological disorders characterized by developmental delays of basic functions such as the ability to communicate, understand language, and socialize with others including peers and family. The five developmental disorders are:

  • Autistic Disorder
  • Rett’s Disorder
  • Childhood Disintegrative Disorder
  • Asperger’s Disorder
  • Pervasive Developmental Disorders Not Otherwise Specified

Many parents are often confused by the term Pervasive Developmental Disorders when their child is diagnosed. Often this is because a lot of doctors are hesitant to diagnose very young children with a specific PDD, but PDD is not a true diagnosis, but a category that includes all five of the disorders listed above. The official diagnosis in this case should be Pervasive Developmental Disorders Not Otherwise Specified (PDDNOS) which simple means that there is a pervasive developmental disorder present, but the doctor has yet to narrow down which exact disorder it is.

I could write a very long post that tried to cover all of the PDDs, but that would be very long and perhaps confusing, so what I am going to do is post one at a time over the next few days. To understand each PDD it is good to have a definition of the overall disorder and so we will start with PDDNOS.

Pervasive Developmental Disorders Not Otherwise Specified

All PDDs are neurological disorders that are usually evident by the time the child is three years old. They generally have trouble playing with their peers, socializing and relating to others. They also often have stereotyped behavior, interest and activities, inappropriate fascination with objects and often don’t like changes, even small ones. One parent vented her frustration to me saying that it felt like her child was always rejecting her.

Children with PDDNOS either do not fully meet the criteria of the other PDDs or do not have the degree of impairment usually considered suitable to fulfill the diagnosis of the other four disorders. According to the Diagnosis and Statistical Manual of Mental Disorders IV (DSM-IV), this diagnosis should be used “when there is a severe and pervasive impairment in the development of social interaction or verbal and nonverbal communication skills, or when stereotyped behavior, interests, and activities are present, but the criteria are not met for a specific Pervasive Developmental Disorder, Schizophrenia, Schizotypal Personality Disorder, or Avoidant Personality Disorder” (American Psychiatric Association).

In general, children are usually diagnosed with PDDNOS when they have behaviors that are seen in Autism, but doesn’t meet the full diagnostic criteria.

Part of the confusion with PDDs is that the DSM-IV should be used as a guideline for diagnosing PDDS. Many doctors use it as a checklist. There are no clear guidelines for measure severity of symptoms which cause the lines between Autism and PDDNOS to become blurred. Confusion is also added in the fact that some doctors feel that Autistic Disorder only covers those who show extreme symptoms that meet every single criteria for it, while other doctors are comfortable using Autistic Disorder to define those with a broad range of symptoms related to language and social skills. Therefore, it is not uncommon for an individual to be diagnosed by one doctor as having Autistic Disorder and by another as having PDDNOS. There is growing evidence that PDDNOS and Autistic Disorder aren’t actually separate disorders, but are on a continuum which is why the term Autistic Spectrum Disorders is now frequently used to refer to PDDs. Multisystem Developmental Disorders is another term thrown around seldomly, but it is the same as PDDNOS and Autistic Spectrum Disorder.

Causes of PDDNOS

Studies that include behavioral and biological studies all suggest that PDDNOS is caused by neurological abnormalities (problems with the nervous system). However, no specific cause is known. There’s been controversy about childhood vaccinations being responsible for PDDNOS, but no clear evidence or studies have been able to show consistent evidence supporting that.

Symptoms/Signs of PDDNOS

These are some of the symptoms and signs of PDDNOS. Since it is a spectrum disorder, not all children will show the same symptoms, all of the symptoms or have the same intensity of symptoms as other children with PDDNOS.

  • Impairment in Nonverbal Communication
  • Impairment in Understanding Speech
  • Impairment in Speech Development
  • Abnormal Attachments and Behaviors
  • Unusual Responses to Sensory Experiences
  • Disturbance of Movement
  • Resistance to Change
  • Intellectual and Cognitive Deficits

They may also have associated features such as emotional expressions that are flat, excessive or inappropriate to the situation. They may scream, cry or laugh at any time for no apparent reason. They may not be afraid of real dangers such as falling or getting hit by a car, yet be terrified by a specific doll or stuffed animal.


The DSM-IV is only one tool used to help diagnose PDDNOS. Medical assessments, occupational assessments (used to determine how the child’s different senses work together), interviews with the child’s parents, teachers, behavioral rating scales, psychological assessments, educational assessments and direct behavioral observations are some of the many other tools used to help diagnose PDDNOS. There are no specific test such as blood tests, or x-ray exams that can determine if a child has PDDNOS or not.


Treatments for PDDNOS are usually the same used to treat all PDDs, but no one treatment will help all children and often they need to be individualized. Common treatments include:

  • behavior modification
  • structured educational approaches
  • medications
  • speech therapy
  • occupational therapy
  • counseling
  • family counseling
  • psychological treatment
  • facilitated communication
  • Auditory Integrative Therapy
  • Sensory Integrative Therapy
  • Dietary Therapies
The aim is typically to promote more acceptable and appropriate social and communication behavior as well as to minimize negative behaviors such as repetitive behaviors, self-injury, hyperactivity and aggression.

It is also important for parents of children with PDDNOS or any PDD (just like parents of children with any other disorder) to seek out help in the form of parent support groups in order to educate, remember that they are not alone and also to replenish themselves.

I hope that this post on PDDNOS was helpful. I realized halfway through writing this how tough it was going to be to try to cover PDDNOS in one post, partway through I was like, “What was I thinking” but hopefully I’ve laid out a decent basis to start discussing the other four disorders starting with Autistic Disorder tomorrow.

For those of you who want more information I’ve included the names, contact information and web addresses of some organizations below.


Autism Coalition

Autism Patient Center

Autism-PDD Resources Network

Division TEACCH: http://www.teacch.com

Indiana Resource Center for Autism

National Institute of Child Health and
Human Development

Asperger Syndrome Coalition of the United States, Inc. (ASCU.S.)
2020 Pennsylvania Ave., NW, Box 771, Washington, DC 20006
Telephone: 1-866-427-7747
Web: http://www.asperger.org
Autism Society of America
7910 Woodmont Avenue, Suite 300
Bethesda, MD 20814
Telephone: 1-800-328-8476
Web: http://www.autismsociety.org

International Rett Syndrome
Association, 9121 Piscataway Road,
Clinton, MD 20735. Telephone:
1-800-818-RETT; (301) 856-3334.
Web: http://www.rettsyndrome.org