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Pervasive Developmental Disorders

Introduction

The Pervasive Developmental Disorders (PDD), which also are referred to as the Autism Spectrum Disorders, are characterized by varying degrees of impairment in communication skills, social interactions, and by restricted, repetitive and stereotyped patterns of behavior. Children with these disorders share a common delay or deviance in their social, language, motor, and cognitive development. Five disorders fall under the category of Pervasive Developmental Disorders: (1) Asperger’s Disorder, (2) Autistic Disorder, (3) Childhood Disintegrative Disorder, (4) Rett's Disorder, and (5) Pervasive Developmental Disorder Not Otherwise Specified.

Prevalence

The Pervasive Developmental Disorders are common. The current estimate is that they occur in from 2 to 6 per 1,000 children. This is more common than some of the better know childhood disorders, such diabetes, spinal bifida, or Down’s syndrome.

The Five Categories of PDD

Although Pervasive Developmental Disorders are divided into five conditions, there are no clear diagnostic boundaries separating these conditions. It is often difficult to distinguish one from the other.

Asperger's Syndrome

These children exhibit difficulties in social relationships and communication. They are reluctant to make eye contact, do not respond to social or emotional interactions, do not initiate play activities with peers, and do not give or receive attention or affection. Children with Asperger’s Syndrome tend to develop normal language, thinking, and coping skills. Their deficits are primarily in the area of social relationships. Also, they may have poor muscle coordination and appear to be clumsy. This condition is four times more common in boys than girls.

Autistic Disorder

Autistic disorder is usually evident within the first year of life. Three quarters of these children are moderately retarded. These children shun social contact, refusing to be held, rocked, or cuddled. They attach themselves to objects, rather than people or pets. They do not respond to affection, avoid eye contact, and show no interest in others. They use gestures rather than words to express their needs. Their actions, which are repetitive, routine and restricted, include rocking, hand and arm flapping, and unusual hand and finger movements. They tend to be overactive, aggressive, and self-injurious. They are often highly sensitive to touch, noise, and smells and do not like changes in routine. This condition is four times more common in boys than girls.

Childhood Disintegrative Disorder

Childhood Disintegrative Disorder, also called Heller's disease, develops after the age of two. These children are normal until two to three years of age, when they begin to regress rapidly. They lose their ability to speak and understand language to the point where they are unable to carry on a conversation. They lose interest in play and other social activities. They also lose bladder and bowel control. In the end they resemble children with autistic disorder. This disorder is very rare and is much more common in boys.

Rett's Syndrome

Rett's syndrome is a rare disorder found almost exclusively in girls. This disorder is distinguished in that the child’s head growth lags behind that of her body. These children are usually mentally retarded. They also have deficits in motor skills and a little interest in social activities.

Pervasive Developmental Disorder Not Otherwise Specified

This disorder is also referred to as atypical personality development, atypical PDD, or atypical autism. This is a catchall diagnosis to include children who share some of the signs and symptoms of the pervasive developmental disorders, but do not meet the diagnostic criteria of any particular disorder.

Causes

No specific cause has been identified. The current feeling is that PDD is a result of abnormal brain development. Evidence suggests that there are genetic factors involved. Studies are under way to identify the specific genes involved.

Abnormalities of serotonin metabolism also seem to play a role. Serotonin synthesis is typically decreased in some areas of the brain and increased in others. A third of the children with these disorders have an overall elevation of serotonin in the brain. Further evidence suggests that serotonin receptors and transporters do not function properly in individuals with PDD.

Signs and Symptoms

Children with PDD show deficits in development, social skills, and communication. They also display abnormal responses to sensory stimuli and repetitive behaviors. These symptoms vary widely from child to child and run the gamut from mild to severe. One child with PDD can appear almost normal with a few personality quirks, while another can be completely nonfunctional. Yet both children carry the same diagnosis.

Some Indicators of PDD

The following are indicators that a child may have PPD. Most children will not have symptoms in all the categories. Not every child that has these indicators should be thought of as having PDD. (Albert Einstein displayed a number of these indicators as a child, but in the end he turned out okay.)

Developmental Indicators
  • Doesn’t babble or make meaningful gestures by 1 year of age.
  • Doesn’t speak one word by 16 months.
  • Doesn’t combine two words by 2 years.
  • Doesn’t respond to his name.
  • Doesn’t make normal eye contact.
  • Doesn’t know how to play with toys.
  • Doesn’t smile.
  • Doesn’t seem to hear.
  • Becomes overly attached to one particular toy.
Social indicators
  • Seems to prefer being alone.
  • Seems indifferent to other people.
  • Resists hugs or cuddling.
  • Doesn’t respond to parents’ display of affection or anger.
  • Doesn’t read or observe social cues.
  • Has difficulty regulating his emotions
  • Displays "immature" behavior such as inappropriate crying or verbal outbursts.
  • Is disruptive and physically aggressive.
  • Loses control in a strange environment.
  • Loses control when angry or frustrated.
  • Acts aggressively, including breaking things or attacking others.
  • Hurts himself by banging his heads, pulling his hair, or biting his arms.
Communication Difficulties

A hallmark of PDD is communication problems. These children often have delayed or abnormal language development. Some children never learn to speak. Others develop language late. Still others seem to develop language normally, but are unable to use it to communicate. These children also have difficulty with non-verbal communication. Their facial expressions, movements, and gestures rarely match the content of what they are saying. Their tone of voice does not reflect their feelings. The result is that these children are at a loss to express their needs. As a result, they may simply scream or grab what they want. As these children grow they become aware of their inability to communicate and often become anxious or depressed.

Repetitive Behaviors

Even when these children may have good muscle control, their odd repetitive motions may set them off from other children. These abnormal motor behaviors may be extreme or subtle. Some children flap their arms or walking on their toes. Others suddenly freeze in position.

Sometimes repetitive behaviors take the form of a persistent, intense preoccupation. For example, the child might be obsessed with learning all about automobiles, subway schedules, or trees.

Associated Problems

Sensory problems

Many children with PDD have sensory integration defects. They may be extremely hypersensitive to sounds, smells or certain textures.

Mental retardation

Many of these children have some degree of mental impairment. They tend to be intellectually unbalanced, strong in some areas and deficient in others.

Seizures

One in four children with PDD will develop seizures.

Fragile X Syndrome

This is the most common inherited form of mental retardation. This is caused by a genetic defect in the X chromosome. 5% of children with PDD have this syndrome.

Tuberous Sclerosis

This is a rare genetic disorder that causes benign tumors to grow in the brain as well as in other vital organs. Up to 4% of children with PDD have Tuberous Sclerosis.

Diagnosis

Currently, there are no laboratory tests for PDD. The diagnosis is based on a history of the child's development and clinical observation of the child.

Prognosis

In general, the prognosis in all of these conditions is tied to the severity of the illness. Children with higher IQ’s and the better communication skills tend to do better. In general, the earlier the diagnosis is made and intervention is begun the better the outcome. Current research indicates that intensive early intervention in optimal educational settings for at least 2 years during the preschool years results in improved outcomes.

Treatment: Conventional

Treatment for children with Pervasive Developmental Disorder is limited.

The main treatment is through structured and highly personalized educational programs. Social skills training and psychotherapy can also be helpful. Treatment may also include physical and occupational therapy.

There is no medication specifically for PDD. When medications are used it is to target specific symptoms such as agitation, mood instability, and self-injury.

Treatment: Alternative

Here is a list of some common alternative treatments used for PDD. There are a lot of good anecdotes supporting these techniques, but none of them are backed by any solid research.

Facilitated Communication

This is a technique that encourages people with communication impairments to express themselves. A therapist helps the child spell words using a keyboard. The child initiates the movement while the therapist offers physical support.

Auditory Integration Therapy

Although we discussed this in a previous article in the context of ADHD, this therapy was primarily developed for PDD, particularly autism.

Sensory Integration Therapy

This therapy is directed toward improving how the child’s senses process stimulation.

The Lovaas Method

This was developed by psychologist Ivar Lovaas at UCLA. It is an intensive intervention program for preschool-aged children with autism. It employs the certain behavioral therapy techniques. Therapy usually consists of 4 to 6 hours per day of one-on-one training, 5 to 7 days a week. About half the children involved in this program make significant progress.

Vitamin Therapy

There are anecdotal reports that Vitamin B6 and magnesium help children with autism. Both of these nutrients are involved with serotonin metabolism.

Dietary Intervention

Food sensitivities can contribute to child behavior problems. Although I have found this to be very helpful in ADD ADHD child treatment, I do not expect the same type of results in PDD. Still, if some child behavior problems can be addressed by diet and food sensitivity elimination, then it is certainly worth it.

Anti-Yeast Therapy

Children with PDD are more likely to have higher yeast levels. Some preliminary studies suggest that giving anti-yeast medication can decrease some of the negative behaviors.

Conclusion

I feel a little uncomfortable when discussing PDD. After reading the current research and reviewing the medical literature on the topic, I still feel that I know very little about these disorders. I think most physicians feel this way.

One of the problems is that the diagnostic criteria are not clear. There is a wide range of symptoms that fit under this label. The diagnosis of PDD can include a child with a slight communication deficit and a child who is completely unable to communicate. It can include a child who is a bit more withdrawn than most children, but is may also be used to describe a child who is completely unaware and uninterested in those around him.

Unfortunately, what I have told you seems to be our current state of knowledge about this very common and sometimes very debilitating group of disorders.



Anthony Kane, MD

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