This document addresses various tools used in the screening and assessment of individuals with suspected Pervasive Developmental Disorders (PDD).  PDDs include:

• Autism Spectrum Disorders (or Autistic Spectrum Disorders, ASD) which is a subcategory including Autistic Disorder, Asperger's Disorder, and Pervasive Developmental Disorder NOS
• Childhood Disintegrative Disorders (CDD)
• Rett syndrome

NOTE: Please see the following related documents for additional information:

• BEH.00004 Behavioral Health Treatments for Pervasive Developmental Disorders
• DRUG.00003 Chelation Therapy
• GENE.00021 Comparative Genomic Hybridization (CGH) Microarray Testing for Developmental Delay, Autism Spectrum Disorder and Mental Retardation
• MED.00107 Medical and Other Non-Behavioral Health Related Treatments for Pervasive Developmental Disorders
• RAD.00002 Positron Emission Tomography (PET) and PET/CT Fusion
• RAD.00019 Magnetic Source Imaging and Magnetoencephalography
• RAD.00022 Magnetic Resonance Spectroscopy (MRS)
• RAD.00023 Single Photon Emission Computed Tomography (SPECT) Scans for Noncardiovascular Indications
• RAD.00042 SPECT/CT Fusion Imaging
• RAD.00044 Magnetic Resonance Neurography
• RAD.00045 Cerebral Perfusion Imaging Using Computed Tomography
• RAD.00051 Functional Magnetic Resonance Imaging (fMRI)

Medically Necessary: 

1. Assessment for autism, Asperger's syndrome, Rett syndrome, childhood disintegrative disorder, and pervasive developmental disorders not otherwise specified (NOS) is considered medically necessary when any of the following criteria are met:
   • No babbling by 12 months; or
   • No gesturing (e.g., pointing, waving bye-bye) by 12 months; or
   • No single words by 16 months; or
   • No 2-word spontaneous (not just echolalic) phrases by 24 months; or
   • Any loss of any language or social skills at any age; or
   • None-to-little mutual gaze or joint attention.

Note: The following services may be included in the assessment of the individuals with suspected PDD:

1. Medical evaluation (complete medical history and physical examination).
2. Evaluation by speech-language pathologist.
3. Formal audiological hearing evaluation including frequency-specific brainstem auditory evoked response.
4. Measurement of blood lead level if the child exhibits developmental delay and pica, or lives in a high-risk environment. Additional periodic lead screening can be considered if the pica persists.
5. Genetic testing, specifically high resolution chromosome analysis (karyotype) and DNA analysis for fragile X syndrome in the presence of mental retardation (or if mental retardation cannot be excluded) if there is a family history of fragile X or mental retardation of undetermined etiology, or if dysmorphic features are present.
6. Parent and/or child interview (including siblings of children with autism).
7. Neuropsychological evaluation including developmental testing in the areas of social skills, intellect, adaptation and an Autism Spectrum Disorder specific screening tool.
8. Selective metabolic testing if the child exhibits any of the following:
   • Clinical and physical findings suggestive of a metabolic disorder (e.g., lethargy, cyclic vomiting, or early seizure); or
   • Dysmorphic or coarse features; or
   • Evidence of mental retardation; or
   • Mental retardation cannot be ruled out; or
   • Occurrence or adequacy of newborn screening for a birth defect is questionable; or
   • History of developmental regression.
9. Genetic counseling for parents of a child with autism.
10. Sleep-deprived EEG study only if the child exhibits any of the following conditions:
    • Clinical seizures; or
    • High suspicion of subclinical seizures; or
    • Symptoms of developmental regression (clinically significant loss of social and communicative function) at any age, but especially in toddlers and pre-schoolers. 

Not Medically Necessary: 

The following tests/tools are considered not medically necessary for the assessment of autism, Asperger's syndrome, Rett syndrome, childhood disintegrative disorder, and pervasive developmental disorders not otherwise specified (NOS):

1. Allergy testing (including but not limited to food allergy for gluten, casein, Candida, and other molds).
2. Erythrocyte glutathione peroxides studies.
3. Event-related brain potentials (other than frequency-specific brainstem auditory evoked response, as noted above).
4. Hair analysis for trace elements.
5. Intestinal permeability studies.
6. Stool analysis.
7. Tests for celiac antibodies.
8. Tests for immunologic or neurochemical abnormalities.
9. Tests for micronutrients such as vitamin levels.
10. Tests for mitochondrial disorders including lactate and pyruvate.
11. Tests for urinary peptides.

The following codes for treatments and procedures applicable to this document are included below for informational purposes.  A draft of future ICD-10 Coding (effective 10/01/2014) related to this document, as it might look today, is included below for your reference.  Inclusion or exclusion of a procedure, diagnosis or device code(s) does not constitute or imply member coverage or provider reimbursement policy.  Please refer to the member's contract benefits in effect at the time of service to determine coverage or non-coverage of these services as it applies to an individual member.

Description of Pervasive Developmental Disorders (PDD)

The term pervasive developmental disorders (PDD) refers to a group of disorders characterized by severe and pervasive impairment in several areas of development:  reciprocal social interaction skills, communication skills, or the presence of stereotyped behavior, interests, and activities.  The qualitative impairments that define these conditions are distinctly deviant relative to the individual's developmental level or mental age.  Parents may note symptoms as early as infancy, although the typical age of onset is before 3 years of age. Symptoms may include problems with using and understanding language; difficulty relating to or reciprocating with people, objects, and events; lack of mutual gaze or inability to attend events conjointly; unusual play with toys and other objects; difficulty with changes in routine or familiar surroundings, and repetitive body movements or behavior patterns. Autism is the most characteristic and best studied PDD, but there are many other types of PDDs including Asperger's syndrome, Rett syndrome, and childhood disintegrative disorder (CDD). 

The specific causes of PDDs are unknown. It is known that they are due to biological and neurological problems in the brain, but other possible causes under investigation include genetic mutations, food allergies, excessive amounts of yeast in the digestive tract, and exposure to environmental toxins.

It's important to note that all children can exhibit unusual behaviors occasionally, or they can seem shy around others sometimes – without having a PDD. What sets children with PDDs apart is the consistency of their unusual behaviors.  Symptoms of the disorder are present in all settings, not just at home or at school, and over considerable periods of time. With PDD, there is a lack of social interaction, impairment in nonverbal behaviors, and a failure to develop normal peer relations. A child with a PDD tends to ignore facial expressions and may not look at others; other children may fail to respect interpersonal boundaries and come too close and stare fixedly at another person. 

Description of Autism

Autism is a complex developmental disorder that affects the brain's development in the areas of social interactions and communication.  Symptoms typically appear in the first 3 years of life, although diagnosis frequently is not made until much later.  Symptoms of autism vary significantly in severity, but there are several core features to the condition, including gross and sustained impairment in reciprocal social interactions, impaired verbal and nonverbal communication, and restricted or repetitive patterns of behavior.  In most cases, there is an associated diagnosis of Mental Retardation, commonly in the moderate range (IQ 35-50). 

Most parents of autistic children suspect that something is wrong by the time the child is 18 months old and seek help by the time the child is 2.  However, some children with autism appear normal before age 1 or 2 and then suddenly "regress" and lose language or social skills they had previously gained. This is called the regressive or disintegrative type of autism and is seen in a minority of cases.

People with autism may perform repeated body movements, show unusual attachments to objects or have unusual distress when routines are changed. Individuals may also experience sensitivities in the senses of sight, hearing, touch, smell, or taste. Such children, for example, will refuse to wear "itchy" clothes and become unduly distressed if forced because of the hyper-sensitivity of their skin or hyper-reactivity to other sensations.

The exact causes of autism are unknown, although genetic factors are strongly implicated.  A recent study released by the Center for Disease Control and Prevention (2012) indicates that the incidence of Autism Spectrum Disorders was as high as 1 in 88. 

Description of Asperger's Syndrome

Like autism, Asperger's syndrome (AS) is a developmental disorder characterized by impairment in communication skills, as well as repetitive or restrictive patterns of thought and behavior, but without significant language or cognitive delay.  Parents usually sense there is something unusual about a child with AS by the time of his or her third birthday, but typically clinical concern does not arise until the time the child enters a preschool setting.  Unlike children with autism, children with AS retain their early language skills, although its presentation is abnormal, while a higher cognitive function tends to be preserved.  Motor development delays such as crawling or walking late, clumsiness, etc. are sometimes the first indicator of the disorder.

In addition to the preservation of some aspects of language functioning, another of the most distinguishing symptoms of AS is a child's obsessive interest in a single object or topic to the exclusion of any other.  Children with AS want to know everything about their topic of interest and their conversations with others will be about little else.  Their expertise in some areas of interest, high level of vocabulary, and formal speech patterns make them seem like "little professors."  Other characteristics of AS include repetitive routines or rituals, peculiarities in speech and language, socially and emotionally inappropriate behavior and the inability to interact successfully with peers, problems with non-verbal communication, and clumsy and uncoordinated motor movements.

Children with AS usually have a history of developmental delays in motor skills such as pedaling a bike, catching a ball, or climbing outdoor play equipment.  They are often awkward and poorly coordinated with a walk that can appear either stilted or bouncy.

The incidence of AS is not well established.  Boys are three to four times more likely than girls to have AS.

Although diagnosed mainly in children, AS is being increasingly diagnosed in adults who seek medical help for mental health conditions such as depression, obsessive-compulsive disorder (OCD), and attention deficit hyperactivity disorder (ADHD).  They should have a childhood history consistent with the diagnosis.  No studies have yet been conducted to determine the incidence of AS in adult populations.

Description of Rett Syndrome

Rett syndrome is a disorder of the nervous system that leads to regression in development, especially in the areas of expressive language and hand use. In most cases, it is caused by a genetic mutation. It occurs almost exclusively in girls and may be misdiagnosed as autism or cerebral palsy.

Seventy-five percent of Rett syndrome cases have been linked to a specific genetic mutation on the X chromosome. This gene contains instructions for creating methyl-CpG-binding protein 2 (MeCP2), which regulates the manufacture of various other proteins.  Mutations in the MeCP2 gene causes these other proteins to be produced incorrectly, which damages the maturing brain. Studies link mutations in this gene with the development of Rett syndrome.  Most cases of the mutation arise spontaneously without any traceable cause. However, there also seem to be some clusters within families and certain geographic regions, for example Norway, Sweden, and Northern Italy.

A child affected with Rett syndrome normally follows a standard developmental path for the first 5 months of life.  After that time development in communication skills and motor movement in the hands seems to stagnate or regress.  After a short period stereotyped hand movements, gait disturbances, and slowing of the rate of head growth become apparent.  Other problems may also be associated with Rett syndrome, including seizures, disorganized breathing patterns while awake and apraxia/dyspraxia (the inability to program the body to perform motor movements).  Apraxia/dyspraxia is a key symptom of Rett syndrome and it results in significant functional impairment, interfering with body movement, including eye gaze and speech.

Childhood Disintegrative Disorder

Childhood disintegrative disorder (CDD) is a condition similar to autism, but with onset after the age of 3 and is characterized by a period of clearly normal development prior to onset of severe developmental regression and onset of behaviors suggestive of autism. Children with CDD vary widely in abilities, intelligence, and behaviors. Some children do not speak at all, others speak in limited phrases or conversations, and some have relatively normal language development. Repetitive play skills, resistance to change in routine and inability to share experiences with others, and limited social and motor skills are generally evident. Unusual responses to sensory information, such as loud noises and lights, are also common. 

Description of Pervasive Developmental Disorder Not Otherwise Specified

The essential feature of Pervasive Developmental Disorder not otherwise specified is a marked regression in multiple areas of functioning following a period of at least 2 years of apparently normal development.  Apparently normal development is reflected in age-appropriate verbal and nonverbal communication, social relationships, play, and adaptive behavior.  After the first 2 years of life (but before age 10 years), the child has a clinically significant loss of previously acquired skills in at least two of the following areas:  expressive or receptive language, social skills or adaptive behavior, bowel or bladder control, play, or motor skills.  Individuals with this disorder exhibit the social and communicative deficits and behavioral features generally observed in Autism.  There is qualitative impairment in social interaction and in communication, and restricted, repetitive, and stereotyped patterns of behavior, interests, and activities.  The disturbance is not better accounted for by another specific pervasive developmental disorder or by schizophrenia.

Description of Technology

The diagnosis of PDD can be complex and difficult due to the diversity of the presentation of symptoms and their severity. Due to the multitude of possible causes, and potential confusion with other conditions, many tests exist that may or may not be appropriate.  It is vital that parents of children suspected of having a PDD seek early diagnosis and care for their child to increase any potential benefits of treatment.  The recommendations for evaluation and assessment of Autism Spectrum Disorders as published by the American Academy of Neurology (Filipek, 2002) and the Child Neurology Society and the American Academy of Pediatrics (Johnson, 2007) are good resources to utilize.

Dysmorphic: A characteristic that is abnormally formed. 

Echiolaic: A symptom of some medical conditions characterized by an individual repeating things they hear.

Pica: A symptom of some medical conditions characterized by eating earth, clay or chalk.

Peer Reviewed Publications:

1. Baird G, Cass H, Slonims V. Diagnosis of autism. BMJ. 2003; 327(7413):488-493.
2. Charman T, Baird G, Simonoff E, et al. Efficacy of three screening instruments in the identification of autistic-spectrum disorders. Br J Psychiatry. 2007; 191:554-559.
3. Witwer AN, Lecavalier L. Autism screening tools: an evaluation of the Social Communication Questionnaire and the Developmental Behaviour Checklist-Autism Screening Algorithm. J Intellect Dev Disabil. 2007; 32(3):179-187.

Government Agency, Medical Society, and Other Authoritative Publications:

1. American Academy of Child and Adolescent Psychiatry. Practice parameters for the assessment and treatment of children, adolescents, and adults with autism and other pervasive developmental disorders. Academy of Child and Adolescent Psychiatry Working group on Quality Issues. J Am Acad Child Adolesc Psychiatry. 1999; 38(Supp 12):55S-76S. Available at: http://www.aacap.org/cs/root/member_information/practice_information/practice_parameters/practice_parameters. Accessed on May 31, 2012.
2. Autism and Developmental Disabilities Monitoring Network Surveillance Year 2002 Principal Investigators; Centers for Disease Control and Prevention. Prevalence of autism spectrum disorders--autism and developmental disabilities monitoring network, 14 sites, United States, 2002. MMWR Surveill Summ. 2007; 56(1):12-28.
3. Centers for Disease Control and Prevention. Prevalence of Autism Spectrum Disorders — Autism and Developmental Disabilities Monitoring Network, 14 Sites, United States, 2008.  March 20, 2012.  Available at: http://www.cdc.gov/mmwr/pdf/ss/ss6103.pdf.  Accessed on May 31, 2012
4. Filipek PS, Accardo PJ, Ashwal S, et al. American Academy of Neurology and the Child Neurology Society. Practice parameter: screening and diagnosis of autism: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Child Neurology Society. Neurology. 2000; 55(4):468-479. Guideline-reaffirmed 07/28/2006. Available at: http://www.neurology.org/content/55/4/468.full.pdf. Accessed on May 31, 2012.
5. Johnson C, Meyers SM: American Academy of Pediatrics Council on Children with Disabilities.  Identification and evaluation of children with autism spectrum disorders.  Pediatrics 2007; 120(5):1183-1215.
6. Miller DT, Adam MP, Aradhya S, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 2010; 86(5):749–764.
7. New York State Department of Health Early Intervention Program. Clinical Practice Guideline Report of the Guideline Recommendations – Autism / Pervasive Developmental Disorders – Assessment and Intervention For Young Children (Age 0-3 Years).  Available at: http://www.health.state.ny.us/nysdoh/eip/autism/index.htm#Table_of_Contents. Accessed on May 31, 2012.
8. Shen T, Dies KA, Holm IA, et al.; Autism Consortium Clinical Genetics/DNA Diagnostics Collaboration.  Clinical genetic testing for patients with autism spectrum disorders. Pediatrics. 2010; 125(4):e727-e735.
9. Shevell M, Ashwal S, Donley D, et al. Practice parameter: evaluation of the child with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology. 2003; 60(3):367-380. Guideline reaffirmed 10/15/2005. Available at: http://aan.com/professionals/practice/guidelines/guideline_summaries/Global_Devlopmental_Delay_Clinicians.pdf. Accessed on May 31, 2012.
10. Yeargin-Allsopp M, Rice C, Karapurkar T, et al. Prevalence of autism in a US metropolitan area. JAMA. 2003; 289(1):49-55.

Asperger's Syndrome
Autism
Fragile X
Pervasive Developmental Disorder (PDD)