Clinical UM Guideline
|Subject:||Screening and Testing for Autism Spectrum Disorders and Rett Syndrome|
|Guideline #:||CG-BEH-01||Current Effective Date:||01/01/2015|
|Status:||Reviewed||Last Review Date:||08/14/2014|
This document addresses various tools used in the screening and testing of individuals with suspected Autism Spectrum Disorders (ASDs) and Rett syndrome. ASDs, as defined in the fifth edition of the American Psychiatric Association's (APA) Diagnostic and Statistical Manual of Mental Disorders (DSM-5), include disorders previously referred to as:
NOTE: Please see the following related documents for additional information:
Note: The following services may be included in the testing of the individuals with suspected ASDs and Rett syndrome:
Not Medically Necessary:
The following tests/tools are considered not medically necessary for the testing of Autism Spectrum Disorder and Rett syndrome:
The following codes for treatments and procedures applicable to this document are included below for informational purposes. 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.
|Codes include, but are not limited to, the following:|
|81243||FMR1 (Fragile X mental retardation 1) (eg, fragile X mental retardation) gene analysis; evaluation to detect abnormal (eg, expanded) alleles|
|81244||FMR1 (Fragile X mental retardation 1) (eg, fragile X mental retardation) gene analysis; characterization of alleles (eg, expanded size and methylation status)|
Molecular pathology procedure, Level 2 (eg, 2-10 SNPs, 1 methylated variant, or 1 somatic variant [typically using nonsequencing target variant analysis] or detection of a dynamic mutation disorder/triplet repeat) [when specified as the following]:
Molecular pathology procedure, Level 5 (eg, analysis of 2-5 exons by DNA sequence analysis, mutation scanning or duplication/deletion variants of 6-10 exons, or characterization of a dynamic mutation disorder/triplet repeat by Southern blot analysis) [when specified as the following]:
Molecular pathology procedure, Level 6 (eg, analysis of 6-10 exons by DNA sequence analysis, mutation scanning or duplication/deletion variants of 11-25 exons, regionally targeted cytogenomic array analysis) [when specified as the following]:
|88245-88264||Chromosome analysis [includes codes 88245, 88248, 88249, 88261, 88262, 88263, 88264]|
|88280-88289||Chromosome analysis [includes codes 88280, 88283, 88285, 88289]|
|92521||Evaluation of speech fluency (eg, stuttering, cluttering)|
|92522||Evaluation of speech sound production (eg, articulation, phonological process, apraxia, dysarthria);|
|92523||Evaluation of speech sound production (eg, articulation, phonological process, apraxia, dysarthria); with evaluation of language comprehension and expression (eg, receptive and expressive language)|
|92524||Behavioral and qualitative analysis of voice and resonance|
|92550, 92552-92588||Audiologic function tests with medical diagnostic evaluation [includes codes 92550, 92552, 92553, 92555, 92556, 92557, 92558, 92559, 92560, 92561, 92562, 92563, 92564, 92565, 92567, 92568, 92570, 92571, 92572, 92575, 92576, 92577, 92579, 92582, 92583, 92584, 92585, 92586, 92587, 92588]|
|95816||Electroencephalogram (EEG); including recording awake and drowsy|
|96040||Medical genetics and genetic counseling services, each 30 minutes face-to-face with patient/family|
|96105||Assessment of aphasia (includes assessment of expressive and receptive speech and language function, language comprehension, speech production ability, reading, spelling, writing, eg, by Boston Diagnostic Aphasia Examination) with interpretation and report, per hour|
|96110||Developmental screening, (eg, developmental milestone survey, speech and language delay screen), with scoring and documentation, per standardized instrument|
|96111||Developmental testing, (includes assessment of motor, language, social, adaptive, and/or cognitive functioning by standardized developmental instruments) with interpretation and report|
|96116||Neurobehavioral status exam (clinical assessment of thinking, reasoning and judgment, eg, acquired knowledge, attention, language, memory, planning and problem solving, and visual spatial abilities), per hour of the psychologist's or physician's time, both face-to-face time with the patient and time interpreting test results and preparing the report|
|96118||Neuropsychological testing (eg, Halstead-Reitan Neuropsychological Battery, Wechsler Memory Scales and Wisconsin Card Sorting Test), per hour of the psychologist's or physician's time, both face-to-face time administering tests to the patient and time interpreting these test results and preparing the report|
|96119||Neuropsychological testing (eg, Halstead-Reitan Neuropsychological Battery, Wechsler Memory Scales and Wisconsin Card Sorting Test), with qualified health care professional interpretation and report, administered by technician, per hour of technician time, face-to-face|
|96120||Neuropsychological testing (eg, Wisconsin Card Sorting Test), administered by a computer, with qualified health care professional interpretation and report|
|99201-99215||Evaluation and Management services [includes codes 99201, 99202, 99203, 99204, 99205, 99211, 99212, 99213, 99214, 99215]|
|Codes include, but are not limited to, the following:|
|G0451||Development testing, with interpretation and report, per standardized instrument form|
|S0265||Genetic counseling, under physician supervision, each 15 minutes|
|S9152||Speech therapy, re-evaluation|
|ICD-9 Diagnosis||[For dates of service prior to 10/01/2015]|
|299.10-299.11||Childhood disintegrative disorder|
|299.80-299.81||Other specified pervasive developmental disorders (Asperger's disorder)|
|299.90-299.91||Unspecified pervasive developmental disorder|
|330.8||Other specified cerebral degenerations in childhood (Rett syndrome)|
|ICD-10 Diagnosis||[For dates of service on or after10/01/2015]|
|F84.3||Other childhood disintegrative disorder|
|F84.8||Other pervasive developmental disorders|
|F84.9||Pervasive developmental disorder, unspecified|
In May 2013, the American Psychiatric Association (APA) released the 5th edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5). This edition of the DSM includes several significant changes over the previous edition, including combining several previously separate diagnoses under the single diagnosis of "autism spectrum disorder" (ASD). This diagnosis included the following disorders, previously referred to as: atypical autism, Asperger's disorder, childhood autism, childhood disintegrative disorder, early infantile autism, high-functioning autism, Kanner's autism, and pervasive developmental disorder not otherwise specified. All of these conditions are now considered under one diagnosis, ASD. It should be noted that Rett syndrome is not included in the new DSM-5 ASD diagnostic group but is included in this discussion due to similar condition presentations and diagnostic work up.
The DSM-5 describes the essential diagnostic features of autism spectrum disorders as both a persistent impairment in reciprocal social communication and restricted and repetitive pattern of behavior, interest or activities. These attributes are present from early childhood and limit or impair everyday functioning. Parents may note symptoms as early as infancy, and 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. Children with childhood disintegrative disorder are an exception to this description, in that they exhibit normal development for approximately 2 years followed by a marked regression in multiple areas of function.
Children with ASD 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. Children unaffected by ASDs can exhibit unusual behaviors occasionally or seem shy around others sometimes without having ASD. What sets children with ASD apart is the consistency of their unusual behaviors. Symptoms of the disorder have to be present in all settings, not just at home or at school, and over considerable periods of time. With ASD, there is a lack of social interaction, impairment in nonverbal behaviors, and a failure to develop normal peer relations. A child with an ASD 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.
The exact causes of autism are unknown, although genetic factors are strongly implicated. A study released by the Center for Disease Control and Prevention (2014) indicates that the incidence of ASD was as high as 1 in 68.
The specific DSM-5 diagnostic criteria for ASD are provided below:
DSM-5 Criteria for Autism Spectrum Disorder*
Note: Individuals with a well-established DSM-IV diagnosis of autistic disorder, Asperger's disorder, or pervasive developmental disorder not otherwise specified should be given the diagnosis of autism spectrum disorder. Individuals who have marked deficits in social communication, but whose symptoms do not otherwise meet criteria for autism spectrum disorder, should be evaluated for social (pragmatic) communication disorder.
Specify current severity:
With or without accompanying intellectual impairment
With or without accompanying language impairment
Associated with a known medical or genetic condition or environmental factor (Coding note: Use additional code to identify the associated medical or genetic condition)
Associated with another neurodevelopmental, mental, or behavioral disorder. (Coding note: Use additional code[s] to identify the associated neurodevelopmental, mental, or behavioral disorder)
With catatonia (refer to the criteria for catatonia associated with another mental disorder, pp. 119-120 for definition). (Coding note: Use additional code 293.89 [F06.1] catatonia associated with autism spectrum disorder to indicate the presence of the comorbid catatonia)
* From: Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition. DSM-5. American Psychiatric Association. Washington, DC. May 2013. Page 50-51.
|Table 2 Severity levels for autism spectrum disorders*|
|Severity Level||Social Communication||Restricted, repetitive behaviors|
"Requiring very substantial support"
|Severe deficits in verbal and nonverbal social communications skills cause severe impairments in functioning, very limited initiation of social interactions, and minimal response to social overtures from others. For example, a person with few words of intelligible speech who rarely initiates interaction and, when he or she does, makes unusual approaches to meet needs only and responds to only very direct social approaches.||Inflexibility of behavior, extreme difficulty coping with change, or other restricted / repetitive behaviors markedly interfere with functioning in all spheres. Great distress / difficulty changing focus or action.|
"Requiring substantial support"
|Marked deficits in verbal and nonverbal communication skills; social impairments apparent even with supports in place; limited initiation of social interactions; and reduced or abnormal responses from others. For example, a person who speaks simple sentences, whose interaction is limited to narrow special interests, and who has markedly odd nonverbal communication.||Inflexibility of behavior, difficulty coping with change, or other restricted / repetitive behaviors appear frequently enough to be obvious to the casual observer in a variety of context. Distress and or difficulty changing focus or action.|
|Without supports in place, deficits in social communication cause noticeable impairments. Difficulty initiating social interactions, and clear examples of atypical or unsuccessful responses to social overtures of others. May appear to have decreased interest in social interactions. For example, a person who is able to speak in full sentences and engages in communications but whose to-and-fro conversation with others fails, and whose attempts to make friends are odd and typically unsuccessful.||Inflexibility of behavior cases significant interference with functioning in one or more context. Difficulty switching between activities. Problems of organization and planning hamper independence.|
* From: Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition. DSM-5. American Psychiatric Association. Washington, DC. May 2013. Page 52.
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 cause these other proteins to be produced incorrectly, which damage the maturing brain. Studies link mutations in this gene. 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.
Asperger's Syndrome: A developmental disorder that affects the parts of the brain that control social interaction and communications.
Assessment instruments: Specialized and standardized diagnostic test used to evaluate an individual's performance in specific areas of functioning such as those recommended in the guidelines of the AAP, AAN and the AACAP (e.g., learning and communications skills, social interaction, etc.).
Autism Spectrum Disorders: A collection of associated developmental disorders that affect the parts of the brain that control social interaction and verbal and non-verbal communication.
Childhood Disintegrative Disorder: A developmental disorder characterized by marked regression in multiple areas of functioning following a period of at least 2 years of apparently normal development.
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.
Rett syndrome: A developmental disorder that affects the parts of the brain that control social interaction, communications, and motor function.
Peer Reviewed Publications:
Government Agency, Medical Society, and Other Authoritative Publications:
Autism Spectrum Disorder
Pervasive Developmental Disorder (PDD)
|02/02/2015||Clarified position statement. Replaced the term "mental retardation" with "intellectual developmental disorder."|
|01/01/2015||Updated Coding section with 01/01/2015 CPT descriptor changes for 96110.|
|Reviewed||08/14/2014||Medical Policy & Technology Assessment Committee (MPTAC) review.|
|Reviewed||08/08/2014||Behavioral Health Subcommittee review. Replaced the term "assessment" in document title and clinical indications section with the term "testing". Revised Discussion and Reference sections.|
|01/01/2014||Updated Coding section with 01/01/2014 CPT changes; removed 92506 deleted 12/31/2013.|
|Revised||07/26/2013||Behavioral Health Subcommittee review. Revised title and clinical indications sections to replace "Pervasive Developmental Disorders" with "Autism Spectrum Disorders". Revised Description, Discussion, Reference, and Index sections.|
|07/01/2013||Updated Coding section with 07/01/2013 CPT changes.|
|Revised||08/03/2012||Behavioral Health Subcommittee review. Revised title to delete "Screening" and "Tools". Clarified role of other services in Clinical Indications section. Deleted quantitative plasma amino acid assays to detect phenylketonuria from MN section. Deleted radiological NMN services that are referred to in other company documents. Revised Discussion, Reference, and Index sections. Updated Coding section to remove CPT 84030 (no longer addressed).|
|01/01/2012||Updated Coding section with 01/01/2012 CPT and HCPCS changes.|
|Reviewed||08/12/2011||Behavioral Health Subcommittee review. No change to position statement.|
|Revised||05/19/2011||MPTAC review. Moved content related to chromosomal microarray testing to new policy GENE.00021 Comparative genomic hybridization (CGH) microarray testing for developmental delay, autism spectrum disorder and mental retardation. Updated Coding section; removed 88384, 88385, 88386, S3870.|
|Revised||11/18/2010||MPTAC review. Added chromosomal microarray testing to not medically necessary section. Updated Rationale and Reference sections. Updated Coding section; removed 92569 deleted 12/31/2009.|
|Reviewed||08/19/2010||MPTAC review. Revised document title. No change to position statement. Coding updated.|
|Reviewed||08/27/2009||MPTAC review. No change to position statement.|
|Reviewed||07/25/2008||MPTAC review. Deleted "and treatment" from medically necessary statement regarding services appropriate to screen for PDDs. Updated Discussion and Reference section.|
|Reviewed||11/29/2007||MPTAC review. No change to Clinical Indications. Added Definitions section.|
|07/01/2007||Updated Coding section with 07/01/2007 HCPCS changes.|
|Reviewed||12/07/2006||MPTAC review. No change to Clinical Indications.|
|New||12/01/2005||MPTAC initial guideline development.|