Autism spectrum disorder

According to the American Psychiatric Association's DSM-IV the category of pervasive developmental disorders (PDDs) includes autistic disorder, Asperger's disorder, pervasive developmental disorder not otherwise specified (PDD-NOS), childhood disintegrative disorder (CDD, Heller's syndrome), and Rett's disorder. This group of disorders is characterized by a shared spectrum of qualitative impairments in social interaction, associated with varying degrees of deficits in communication and marked repetitive behaviors and restricted interests. PDDs are now commonly referred to as autism spectrum disorders (ASDs). Diagnosing ASD requires a comprehensive, systematic, and structured approach. Besides meeting the goal of identifying the disorder, the diagnostic assessment provides important information on the child's relative strengths and weaknesses identifies which maladaptive behavior and comorbid difficulties are present, clarifies the impact of the child's condition on the family, and benchmarks the developmental skills of the patient. In this way, the assessment should establish a roadmap for treatment by identifying the capabilities and challenges for the child and providing useful information on the needs and skills that must be addressed by intervention.

Diagnostic criteria

The current specific criteria for ASD diagnoses are drawn from three domains:

1. Impaired social interaction, as shown by:

• Marked impairment in the use of non-verbal communicative behaviors (such as eye-to-eye gaze, facial expression, body postures);
• Failure to develop age-appropriate peer relationships;
• A lack of spontaneous sharing of affect and interests with others; and
• Lack of social or emotional reciprocity (limited interest in or awareness of others' reactions, interests, or feelings).

2. Qualitative impairments in communication skills, as shown by:

• Delays in, or lack of, language acquisition (absence or reduced frequency of early language development as babbling and playing with sounds, and later, absence of phrase speech)
• Inability to initiate or maintain a conversation
• Stereotyped and repetitive use of language or idiosyncratic language (echolalia, oddly formal speech, neologisms)
• Lack of development of age appropriate pretend play or social imitative play.

At present, both retrospective and prospective studies have investigated behaviors of ASD children during infancy, informed by parents’ descriptions, early home videos, screening tools and sibling studies. The most common early signs involve joint attention, eye contact, orienting to verbal call, facial expression, social smile and deficit or poor quality of movements. Few studies have investigated autistic features in the neonatal period, although some authors have examined preterm infants prospectively.

Different data are reported about the age at onset of the early signs: for example, the first decline of social interactions may occur between 2 and 6 months; more generic alterations in sleep, feeding and temperament may occur during the first year in children at risk for ASD. The onset mode is characterized sometimes by a regression concerning language and social interaction around 16-20 months. Sometimes by a psychomotor delay or even by developmental stagnation.

At present, retrospective, prospective and review analyses have reached various conclusions. Zwaigenbaum and collaborators underscore that it is important both to consider all the data reported so far and to promote future research.

Future research regarding early diagnosis cannot ignore medical comorbidities such as ID, early onset epilepsy and genetic/other medical conditions frequently associated with ASD. For example, it is important to comprehend if, above and beyond any contribution from ID, autism and epilepsy have a relationship.

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Regards,
Nancy Ella
Dual Diagnosis: Open Access
Email: dualdiagnosis@emedsci.com
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