Autism

Published on 21/03/2015 by admin

Filed under Pediatrics

Last modified 22/04/2025

Print this page

rate 1 star rate 2 star rate 3 star rate 4 star rate 5 star
Your rating: none, Average: 0 (0 votes)

This article have been viewed 1096 times

Chapter 6 AUTISM

Jonathan M. Wong

General Discussion

Autistic disorder is a pervasive developmental disorder defined behaviorally as a syndrome consisting of abnormal development of social skills (withdrawal, lack of interest in peers), limitations in the use of interactive language (both speech and nonverbal), and sensorimotor deficits (inconsistent responses to environmental stimuli).

The development of impairments is varied and characteristically uneven, resulting in good skills in some areas and poor skills in others. Common impairments include deficiencies in social skills, the use of interactive language, sensorimotor skills, symbolic thinking, protodeclarative pointing, and delays in developmental milestones. These delays in developmental milestones may include slow development, development out of sequence, or regression of previously attained milestones.

Common behaviors in autistic disorder include stereotypic behaviors such as rocking or nonproductive movements of the hands and fingers as well as self-injurious behaviors and self-stimulation. Seizure disorders and mental retardation are also seen frequently in autistic disorder. Table 6-1 below lists the Diagnostic and Statistical Manual (DSM)-IV Diagnostic Criteria for Autistic Disorder.

Table 6-1 DSM-IV Diagnostic Criteria for Autistic Disorder

I. A total of six (or more) items from (A), (B), and (C), with at least two from (A), and one each from (B) and (C)

II. Delays or abnormal functioning in at least one of the following areas, with onset before age 3 years:

III. The disturbance is not better accounted for by Rett’s disorder or childhood disintegrative disorder

Autistic disorder occurs at a rate of 5 to 10 in 10,000 persons. The male-to-female ratio is 2:1 in severely handicapped individuals and 4:1 in moderately handicapped individuals. The occurrence rate in siblings is suspected to be from 3% to 7%, representing a 50- to 100-fold increase in risk.

Autism can be thought of as a spectrum of disorders in which patients may range from very highly functioning (e.g., Asperger syndrome) to severely mentally retarded. Most individuals with autism manifest some degree of mental retardation, which typically is moderate in severity.

Suggested Work-up

Figure 6-1 provides an algorithm for evaluating patients suspected of having autism. The work-up begins with recognition and screening done at well-child visits. Indications for formal developmental evaluation include the following:

image

Figure 6-1 Developmental surveillance and screening algorithm within a pediatric preventive care visit. Because the 30-month visit is not yet a part of the preventive care system and is often not reimbursable by third-party payers at this time, developmental screening can be performed at age 24 months.

1. Pediatric Patient at Preventive Care Visit. Developmental concerns should be included as one of several health topics addressed at each pediatric preventive care visit throughout the first 5 years of life.

2. Perform Surveillance. Developmental surveillance is a flexible, longitudinal, continuous, and cumulative process whereby knowledgeable health care professionals identify children who may have developmental problems. Developmental surveillance has five components: (a) eliciting and attending to the parents’ concerns about their child’s development, (b) documenting and maintaining a developmental history, (c) making accurate observations of the child, (d) identifying the risk and protective factors, and (e) maintaining an accurate record and documenting the process and findings.

3. Does Surveillance Demonstrate Risk? The concerns of both parents and child health professionals should be included in determining whether surveillance suggests the child may be at risk of developmental delay. If either parents or the child health professional express concern about the child’s development, a developmental screening to specifically address the concern should be conducted.

4. Is This a 9-, 18-, or 30-Month Visit? All children should receive developmental screening using a standardized test. In the absence of established risk factors or parental or provider concerns, a general developmental screen is recommended at the 9-, 18, and 30-month visits. Additionally, autism-specific screening is recommended for all children at the 18-month visit.

5a and 5b. Administer Screening Tool. Developmental screening is the administration of a brief standardized tool that aids in the identification of children at risk of a developmental disorder. Developmental screening that targets the area of concern is indicated whenever a problem is identified during developmental surveillance.

6a and 6b. Are the Screening Tool Results Positive or Cause of Concern? When the results of the periodic screening tool are normal, the child health professional can inform the parents and continue with other aspects of the preventive visit. When a screening tool is administered as a result of concerns about development, an early return visit to provide additional developmental surveillance should be scheduled even if the screening tool results do not indicate a risk of delay.

7-8. Make Referrals for Developmental and Medical Evaluations and Early Developmental Intervention/Early Childhood Services (7). Developmental and Medical Evaluations. (8). If screening results warrant concern, the child should be scheduled for developmental and medical evaluations. Developmental evaluation is aimed at identifying the specific developmental disorder or disorders affecting the child. In addition to the developmental evaluation, a medical diagnostic evaluation to identify any underlying causes should be undertaken. Early developmental intervention/early childhood services can be particularly valuable when a child is first identified to be at high risk of delayed development because these programs often provide evaluation services and can offer other services to the child and family even before an evaluation is complete. Establishing an effective and efficient partnership with early childhood professionals is an important component of successful care coordination for children.

9. Is a Developmental Disorder Identified? If a developmental disorder is identified, the child should be identified as a child with special health care needs, and chronic condition management should be initiated (see no. 10 to follow). If a developmental disorder is not identified through medical and developmental evaluation, the child should be scheduled for an early return visit for further surveillance. More frequent visits, with particular attention paid to areas of concern, will allow the child to be promptly referred for further evaluation if any further evidence of delayed development or a specific disorder emerges.

10. Identification of a Child With Special Health Care Needs. Initial Chronic Condition Management. When a child is discovered to have a significant developmental disorder, that child becomes one with special health care needs, even if that child does not have a specific disease etiology identified. Such a child should be identified by the medical home for appropriate chronic condition management and regular monitoring and entered into the practice’s registry of children and youth with special health care needs.

(From Council on Children with Disabilities, Section on Developmental Behavioral Pediatrics, Bright Futures Steering Committee and Medical Home Initiatives for Children with Special Needs Project Advisory Committee. Identifying infants and young children with developmental disorders in the medical home: an algorithm for developmental surveillance and screening. Pediatrics 2006;118:405–420, with permission.)

A number of resources are available for screening, such as the following:

Additional Work-up

Referral to an appropriate developmental disorders center is appropriate if the diagnosis of autism spectrum disorder is entertained. A medical evaluation should also be performed in certain situations to exclude other etiologies of symptoms:

Genetic testing If indicated by family history
Wood’s lamp examination of skin to identify depigmented macules If tuberous sclerosis is suspected
Lead level If lead poisoning is suspected
Metabolic screening If an inborn error of metabolism is suspected
Electroencephalography If seizure disorder is suspected
Central nervous system (CNS) imaging If malignancy, hemorrhage, infection, or inflammation is suspected
Formal hearing evaluation If there is any suspicion of hearing deficit because deafness and profound hearing loss can mimic autism
Vision screening If any visual disturbance is suspected