AAP issues guidelines on autism

(Below is a news release on a policy statement published in the May issue of Pediatrics, the peer-reviewed scientific journal of the American Academy of Pediatrics (AAP). An except of the guidelines follow)

In a new policy statement, the American Academy of Pediatrics offers guidance of pediatricians on recognizing the early symptoms of autism and helping direct its diagnosis and management. Children with autism have some degree of impairment in reciprocal social interaction and communication. They also have repetitive behaviors or restricted range of interests and activities. They may vary widely, showing a spectrum of skills and behaviors from mild peculiarities to severe disability.

The term "Autistic Spectrum Disorder" (ASD) is often used to include severe classic autism and other related conditions in the autism spectrum. Autism is not a specified disease, but rather a collection of disorders of brain development with a strong genetic basis. Although its exact cause is not entirely known, it has been well established that early diagnosis and intervention are associated with better long-term results for management of the disorder.

Early diagnosis of ASD is challenging in the context of primary care visits because there is no laboratory test to detect it, nor one set of primary symptoms that defines it. Therefore, doctors have to make the diagnosis based on the presence or absence of a group of symptoms. Pediatricians must often rely on what parents tell them, clinical judgment and the ability to recognize behaviors that define ASD.

In examining the diagnostic challenges facing the pediatrician, the policy states that, "there must be a high index of suspicion, especially when parents have concerns about their child's language and social development, and extra attention should be given to subsequent siblings of children with isolated ASD. The importance of early diagnosis cannot be overemphasized." Among the recommendations from the AAP regarding diagnosis and management of ASD: Pediatricians should listen carefully to parents when discussing their child's development. They are reliable sources of information and their concerns should be valued and addressed immediately. Pediatricians should consider using screening and diagnostic tools specific for ASD. Such tools should be ethno culturally and linguistically appropriate. If a pediatrician feels unable to do so, the child should be promptly referred to a specialist or, preferably, a multidisciplinary team of specialists with expertise in ASD.

Pediatricians should continue to promote immunizations for all children.

Continued high immunization rates are crucial in preventing an increase in life-threatening infectious diseases. Parents should be reassured that at the present time, there is no scientific evidence to support claims that the measles/mumps/rubella (MMR) vaccine or any combination of vaccines causes ASD.

Lead screening indicated, even in an older child, in the presence of risk factors such as when a child has an appetite for substances not fit as food. Examples include dried paint, clay or starch.

Once the diagnosis of ASD is made, the family and caregivers should be provided with current literature and information regarding parent support groups, specific autism intervention programs and other available community services. Families should receive genetic counseling appropriate to the diagnosis. Parents of a child with apparently isolated ASD should be counseled regarding the increased recurrence risk (3 percent to 7 percent) in subsequent children. When following a younger sibling of a child with known ASD, pediatricians should demonstrate a high level of vigilance and monitor the child closely for any developmental or behavioral concern.

Because many parents of children with ASD pursue alternative therapies, pediatricians are encouraged to become familiar with the more popular ones and approach the issue objectively and compassionately. The statement emphasizes the fact that early diagnosis resulting in early, appropriate and consistent intervention has been shown to be associated with improved long-term outcomes.

EDITOR'S NOTE: The supporting document, "Technical Report: The Pediatrician's Role iin the Diagnosis and Management of Autistic Spectrum Disorder" can also be found in the May issue of Pediatrics. The technical report provides the scientific data with which the policy statement was written. See excerpt of report below.

Technical Report: The Pediatrician's Role in the Diagnosis and Management of Autistic Spectrum Disorder in Children (Excerpt)

Autism and its milder variants are not rare. Most pediatricians will have the opportunity to provide a medical home for a child with autism. This technical report serves to complement and expand on the information in the accompanying policy statement to increase the pediatrician's fund of knowledge and comfort level in caring for children with autism. In so doing it is anticipated that earlier diagnosis and referral for appropriate intervention will be possible and that this will, in turn, have a positive effect on long-term outcomes for children with autism and their families.

In 1943, Dr. Leo Kanner first described autism in a small group of children who demonstrated extreme aloofness and total indifference to other people.

Additionally, the children made little eye contact and had severe language deficits associated with the apparent lack of desire to communicate. They reacted to the environment in very unusual ways and demonstrated no pretend or imaginative play. The term "infantile autism" first appeared as a diagnostic label in the Diagnostic and Statistical Manual of mental Disorders (DSM), Third Edition.

Throughout the years, the definition and criteria for diagnosis have been revised and broadened to include milder and more common forms of the disorder. The newest criteria are published in the DSM, Fourth Edition 3 and the DSM for Primary Care, Child and Adolescent Version.

These criteria differ from previous DSM versions in that the term "Qualitative" has been added to reflect the recent view that a range of qualitative abnormalities exists. Autistic disorder (AD) is currently listed as 1 to 5 pervasive developmental disorders (PDDs). The remaining 4 PPDs are pervasive developmental disorder-not otherwise specified (PDD-NOS), Asperger syndrome, Rett syndrome, and childhood disintegrative disorder.

Although clinical patterns vary depending on severity, all children with autism demonstrate some degree of qualitative impairment in reciprocal social interaction, qualitative impairment of communication, and restricted, repetitive, and stereotypic patterns of behaviors, interests and activities. Table 1 lists the 12 DSM criteria that currently characterize AD. Diagnosis is dependent on the presence of at least 6 criteria, with at least 2 relating to disorders of social development and 1 each relating to disorders of communication and stereotypic behavior patterns. Delays or deviances in at least 1 of these areas must have an onset before 3 years of age. Although onset of symptoms for most children with autism occurs during late infancy, it is well recognized that some children demonstrate regression in speech and social skills, withdraw, and become indifferent to their surroundings during the second year of life after a period of relatively typical development.

A diagnosis of PDD-NOS is made when a child meets some but not all criteria for AD. The DSM criteria were developed for children 3 years and older: a very young child may not demonstrate all of the criteria. In such cases, a diagnosis of PDD-NOS is given, which may later be revised to AD if additional symptoms appear later and the child meets full criteria.

Aasperger syndrome is characterized by poor peer relationships, lack of empathy, and a tendency to over focus on certain topics. In contrast to AD, Asperger syndrome is associated with a typical IQ and relatively typical language skills. Controversy exists as to whether Asperger syndrome represents a high-functioning form of autism or a separate entity. Nevertheless, Asperger syndrome, AD, and PDD-NOS are generally included under the umbrella of autistic spectrum disorder (ASD), a term that is also used at times to refer to all of the PDDs discussed here.7-9 The mildest forms of ASD may overlap with other language, behavior, and learning disorders, such as semantic-pragmatic language disorder, obsessive-compulsive disorder, or right hemisphere learning disorder.

Rett syndrome is a neurodegenerative disorder that had recently been associated with a defined etiology (mutation in the gene MECP2).10 The condition occurs almost exclusively in girls with onset during the first or second year of life after a period of typical development. It is characterized by loss of purposeful hand skills accompanied by stereotypic hand movements, particularly hand wringing: gross motor and coordination skills associated with ataxia and tremor: language and cognitive skills: and social interaction skills. Abnormalities are detected on electroencephalograms for almost all children with Rett syndrome.

The fifth PDD is childhood disintegrative disorder. This is extremely rare and is characterized by later onset (older than 24 months) and more profound losses in language, social, play and motor skills than those seen in AD or PDD-NOS.

There is no single pathognomonic developmental deficit or behavior that is characteristic of all children with autism: however, most children have some degree of impairment in joint attention and pretend play.11 Joint attention is the ability to use eye contact and pointing for the social purpose of sharing experiences with others. Several steps occur before it is fully developed at approximately 18 months old. At approximately 9 months of age, most typically developing children will follow a point when the caregiver points and exclaims, "Oh, look at the (familiar object)!" At approximately 1 year of age, a typically developing child will attempt to obtain an object out of reach by getting the caregiver's attention through pointing, verbalizing, and making eye contact. This is often labeled "protoimperative pointing." The child will look alternatively at the object and the caregiver in an effort to communicate his or her desire. The object is the goal; the caregiver is the means to the goal. The goal and means to the goal are reversed when a few months later, the typically developing child demonstrates "protodelarative pointing". The child will point to an interesting object, verbalize and look alternatively between the object and the caregiver not to obtain the object but simply to direct the adult's attention to the object or event of interest. At about the same time, typically developing children also begin bringing objects to adults just to show them. Children with ASD demonstrate impairments in some or all of these joint attention activities.

As noted above, ASD represents a heterogeneous neurogenetic disorder, with milder forms being more common than classic AD. Several excellent subject reviews and practice parameters describe the heterogeneous array of symptoms characteristic of ASD. 8,9,12-20. Briefly, children with ASD may indeed make no eye contact and seem totally aloof. Others may demonstrate intermittent awareness of their environment, make some eye contact, smile and hug. However, these seemingly affectionate gestures usually occur on the child's own terms and may be difficult to elicit by another person. Children with ASD may be nonverbal or they may demonstrate seemingly advanced speech, which includes imitation of songs, rhymes, or television advertisement jingles. However, these utterances rarely have communicative intent. Intellectural functioning ranges from severe mental retardation to superior intellectual functioning, with performance skills often more advanced than verbal ones. However, formal intelligence testing can be challenging and test results are not always reliable. Some children with autism demonstrate islands of developmentally typical abilities in certain areas of functioning. A few children may be particularly talented in specific areas, such as puzzles, art, music, reading, computer skills, or mathematical calculations. Many demonstrate highly visible stereotypic behaviors, such as hand flapping, finger flicking, or compulsive sniffing; others blend into group settings without any outward signs of underlying abnormalities in thought processes.

Older studies estimated the prevalence of autism to be 4 to 5 in 10,000 children. 21 The majority of studies conducted through 1998 showed the prevalence to be 1 in 1000 children and the prevalence of the broader ASD to be more than 1 in 500 children.22,23 There have been a few recent studies that have shown higher rates. 24-28 These studies with higher rates have been in communities where intense case finding was used to try to identify every possibly affected child in the area. Population-based US prevalence data are not yet available, however, even if the conservative rates apply, pediatricians should expect to care for at least 1 child with ASD. ASD, especially isolated ASD, is more common in boys than in girls, with a relative boy-to-girl ratio of approximately 4:1. 14,21,29 Depending on the study and criteria used for diagnosis, recurrence rates for isolated ASD in subsequent offspring range from 3% to 7%, representing a recurrence risk approximately 50 times the general population. 14,30,31 Whether ASD associated with a known etiology incurs an increase in recurrence risk for siblings (independent of the syndrome risk) is undetermined.


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