Psychiatric Diagnoses

Autism and Other Pervasive Developmental Disorders

Medicine continues to change and develop as research reveals new knowledge. Psychiatry, as one of the newer branches of medicine, has had significant changes over the past 100 years. Information provided in this document is based on the American Psychiatry Association’s Diagnostic Statistical Manual IV (DSM-IV) definitions of diagnoses and criteria required to meet those diagnoses.

Patients do not always fall into exact categories of medicine. It is always important to consider comorbid psychiatric and other medical diagnoses that may contribute to symptoms. Whenever possible, the information provided and the treatments recommended are based on evidence-based medicine.

EPIDEMIOLOGY AND ETIOLOGY:

Autism and Pervasive Developmental Disorders (PDD) are characterized by patterns of delay or deficits in the development of social skills, communication skills and cognition, that appear during the first years of life.  At the present time, the diagnoses included in DSM-IV are autistic disorder; pervasive developmental disorder, not otherwise specified (NOS); Asperger disorder;childhood disintegrative disorder; and Rett disorder.

In February 2010, the first draft for DSM-V diagnoses was released for comments. The following changes were recommended:  Rett disorder will be viewed as a neurological disorder and removed from DSM-V. Asperger syndrome, autistic disorder, childhood disintegrative disorder and pervasive developmental disorder, NOS, will be subsumed under one diagnosis “Autism disorder.” Distinctions will be made based on the severity of symptoms.

Recent epidemiological data indicate the prevalence of autistic disorder at 0.1% of the population and all other pervasive developmental disorders at 0.6%, both with a significantly higher prevalence among males than females. This means that approximately 1 in 150 children has a diagnosis in the autism spectrum. With the exception of Rett disorder that occurs in patients with XX chromosomes, there is a 4:1 male-to-female ratio.

There is no current research that identifies the etiology of autism, but there is a strong research base that indicates genetic factors increase the risk of a child having an autism spectrum. In previous twin studies, heritability was estimated to be approximately 90%, but more rigorours studies are pending. It is known that up to 30% of adults with Autistic / PD Disorders have a sibling who meets at least some of the criteria on the autistic spectrum.

Factors that have been shown to correlate with an increased risk of developing autism include advanced age of mother and father at the birth of the patient, gestational diabetes, prenatal exposure to viruses such as rubella or cytomegalovirus, and exposure to teratogens.

Previously, there were concerns about vaccinations, specifically, the thiomerisal in vaccinations, causing autistic symptoms. Numerous research studies in a variety of countries have disproved any correlation between thiomerisal or vaccinations causing autistic symptoms.

An April 2010 Pediatrics article by Yiping Shen et al. about clinical genetic testing for patients with autism and pervasive developmental disorders recommended that genetic testing via karyotyping, fragile X testing and chromosomal microarray analysis (CMA) be offered to all patients with a diagnosis in the autism spectrum; however, at the present time, there is nothing in terms of prevention or treatment to offer families based on results of such testing.

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DIAGNOSIS OF AUTISTIC / PERVASIVE DEVELOPMENTAL DISORDERS:

There are several excellent articles that provide guidance about screening and diagnosing autism as well as caring for children with autism spectrum disorders. The Quality Standards Subcommittee of the American Academy of Neurology and the Child Neurology Secion wrote a practice parameter for screening and diagnosis of autism in the journal Neurology in 2000. The online version is at http://www.neurology.org/cgi/content/full/55/4/468.

Chris Plauche Johnson and Scott Myers with the Council on Children with Disabilities wrote two articles in Pediatrics on identifying, evaluating and managing children with autism spectrum disorders that provide excellent information on how primary care providers can screen and provide surveillance of children with autism and pervasive developmental disorders. These online articles are available at http://www.pediatrics.org/cgi/content/full/120/5/1183 and http://www.pediatrics.org/cgi/content/full/120/5/1162.

The American Academy of Pediatrics recommends that developmental surveillance occur at every well-child preventive care visit. Developmental screening should occur at 9, 18 and 24 months and autism-specific screening at 18 and 24 months.

The diagnoses of the autism / pervasive developmental spectrum disorder are frequently associated with the diagnoses of mental retardation and language disorders, but autistic disorders have a distinctive natural course. Diagnosis is made across the lifetime of patients, but it has been shown that early diagnosis with intensive intervention can ameliorate the course.

To make the diagnosis, there needs to be historical information about early developmental delays/deficits.  Information to be reviewed should include pregnancy, neonatal and developmental history; medical history, including any history of seizures, sensory deficits, syndromic features, family medical history of autistic disorders and review of medications.

Family and psychosocial factors are important since there can be significant stress on the family and in-home services will often be required.  Any previous interventions should be noted. 

On physical exam, observation of the patient in terms of ease with transitions, interactions with family and medical team, overall developmental level, and restricted level of interests or behaviors and behavioral problems should be evaluated.  If appropriate, genetic testing to rule out possible conditions such as Fragile X, tuberous sclerosis, etc, should be ordered. If pica is an issue, repeated lead levels should be tested.

Audiological and visual examinations are recommended, as is neurological assessment, if deficits are noted. Speech and language assessments for communication deficits are recommended as early as possible.  If appropriate, intelligence testing and adaptive skills may need to be ordered to determine appropriate recommendations to schools and to obtain services.    

No individual screening tool picks up all children with autistic features, but the Modified Checklist for Autism in Toddlers (M-CHAT) is available for children beginning at 12-16 months; the sensitivity is significantly improved if the parents complete a 5-10 minute interview in addition to the initial checklist use. As a child becomes older, the sensitivity and specificity of this instrument improve. Other screening tools that can be used include the Early Screening of Autistic Traits Questionnaire, the First Year Inventory, the Screening Tool for Autism in Two-Year-Olds and the Pervasive Developmental Disorders Screening Test-II.

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DSM-IV CRITERIA:

Autistic Disorder (299.00):

  • Requires a total of 6 or more items from 1), 2) and 3) with at least 2 from 1) and 1 each from 2) and 3).
    • Qualitative impairment in social interaction, as manifested by at least 2 of the following:
      • Marked impairment in the use of multiple nonverbal behaviors, such as eye-to-eye gaze, facial expression, body postures and gestures to regulate social interactions
      • Failure to develop peer relationships appropriate to developmental level
      • Lack of spontaneous seeking to share enjoyment, interests, or achievements with other people (e.g., by a lack of showing, bringing or pointing out points of interest)
      • Lack of social or emotional reciprocity
    • Qualitative impairments in communications as manifested by at least 1 of the following:
      • Delay in, or the total lack of, development of spoken language (not accompanied by an attempt to compensate through alternative modes of communication such as gesture or mime)
      • In individuals with adequate speech, marked impairment in the ability to initiate or sustain a conversation with others
      • Stereotyped and repetitive use of language or idiosyncratic language
      • Lack of varied, spontaneous make-believe play or social imitative play appropriate to developmental level
    • Restricted repetitive and stereotyped patterns of behavior, interest, and activities, as manifested by at least 1 of the following:
      • Encompassing preoccupation with one or more stereotyped and restricted patterns of interest that is abnormal either in intensity or focus
      • Apparently inflexible adherence to specific, nonfunctional routines or rituals
      • Stereotypes and repetitive motor mannerisms (e.g., hand or finger flapping or twisting, or complex whole-body movements)
      • Persistent preoccupation with parts of objects
  • Requires delays or abnormal functioning in at least one following areas, with onset prior to age of 3 years: 1) social interaction; 2) language as used in social communication or 3) symbolic or imaginative play.

Rett Disorder (299.80):

  • All of the following:
    • Apparently normal prenatal and perinatal development
    • Apparently normal psychomotor development through the first 5 months of birth
    • Normal head circumference at birth
  • Onset of all of the following after the period of normal development:
    • Deceleration of head growth between ages 5-48 months
    • Loss of previously acquired purposeful hand skills between ages 5-30 months with the subsequent development of stereotypes hand movements (e.g., hand-wringing or hand-washing)
    • Loss of social engagement early in the course (although often social interaction develops later)
    • Appearance of poorly coordinated gait or trunk movements
    • Severely impaired expressive and receptive language development with severe psychomotor retardation

Childhood DisintegrativeDisorder (299.10):

  • Apparently normal development for at least the first 2 years after birth as manifested by the presence of age-appropriate verbal and nonverbal communication, social relationships, play and adaptive behavior.
  • Clinically significant loss of previously acquired skills (before age 10 years) in at least 2 of the following areas:
    • Expressive or receptive language
    • Social skills or adaptive behavior
    • Bowel or bladder control
    • Play
    • Motor skills
  • Abnormalities of functioning in at least 2 of the following areas:
    • Qualitative impairment in social interaction (e.g., impairment in nonverbal behaviors, failure to develop peer relationships, lack of social or emotional reciprocity)
    • Qualitative impairments in communication (e.g., delay or lack of spoken language, inability to initiate or sustain a conversation, stereotyped or repetitive use of language, lack of varied make-believe play)
    • Restrictive, repetitive and stereotyped patterns of behavior, interest and activities, including motor stereotypes and mannerisms
  • The disturbance is not better accounted for by another Pervasive Developmental Disorder or Schizophrenia.

Asperger’s Disorder (299.80)

  • Qualitative impairment in social interaction, as manifested by at least 2 of the following:
    • Marked impairment in the use of multiple nonverbal behaviors such as eye-to-eye gaze, facial expression, body postures, and gestures to regulate social interaction
    • Failure to develop peer relationships appropriate to developmental level
    • A lack of spontaneous seeking to share enjoyment, interests, or achievements with other people (e.g., by a lack of showing, bringing, or pointing out objects of interest to other people)
    • Lack of social or emotional reciprocity
  • Restricted, repetitive and stereotyped patterns of behavior, interests and activities, as manifested by at least 1 of the following:
    • Encompassing preoccupation with one or more stereotyped and restricted patterns of interest that is abnormal either in intensity or focus
    • Apparently inflexible inheritance to specific, nonfunctional routines or rituals
    • Stereotyped and repetitive motor mannerisms (e.g., hand or finger flapping or twisting, or complex whole-body movements)
    • Persistent preoccupation with parts of objects
  • The disturbance causes significant impairment in social, occupational or other important areas of functioning
  • There is no clinically significant general delay in language (e.g., single words used by age 2 years, communicative phrases used by age 3 years)

Pervasive Developmental Disorders, Not Otherwise Specified (Including Atypical Autism) (299.80)

This category should be used when there is a severe and pervasive impairment in the development of reciprocal social interaction associated with impairment in either verbal or nonverbal communication skills or with the presence of stereotyped behaviors, interests and activities, but the criteria are not met for another Autistic or Pervasive Developmental Disorder or Psychotic Disorder or Avoidant Personality Disorder.

This category includes presentations that do not meet the criteria for Autistic Disorder because of late age of onset, atypical symptomatology, or subthreshold symptomatology, or all of these.

DSM-V Draft Criteria for the all-encompassing Autism Disorder are as follows:

Must meet criteria 1, 2 and 3:

  • Clinically significant, persistent deficits in social communication and interactions, as manifest by all of the following:
    • Interaction.
    • Lack of social reciprocity.
    • Failure to develop and maintain peer relationships appropriate to developmental level.
  • Restricted, repetitive patterns of behavior, interests and activities, as manifested by at least TWO of the following:
    • Stereotyped motor or verbal behaviors or unusual sensory behaviors.
    • Excessive adherence to routines and ritualized patterns of behavior.
    • Restricted, fixated interests.
  • Symptoms must be present in early childhood (but may not become fully manifest until social demands exceed limited capacities).

These criteria will be based on severity of symptoms.

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DIFFERENTIAL DIAGNOSES:

To Distinguish Specific Autistic/ Pervasive Development Disorders:

In Autistic Disorder, symptoms usually are present in the first years of life. Parents may report that the child appears deaf because language is severely delayed or absent and there is minimal response to the environment. Stereotypical behaviors (e.g., twirling, hand flapping, extended fingers held close to the face) are common and usually begin around 3 years. Mental Retardation (MR) is present in about 75% of patients with Autistic Disorder, approximately 25-30% with mild-to-moderate MR and 45-50% with severe-to-profound MR. Predictive factors of better outcome include communicative speech demonstrated by the age of 5 years and level of intellectual functioning.

In Rett Disorder, early growth and development are normal, but at some point before 4 years, usually during the second half of he first year of life, there is regression of language and motor skills. Head circumference will decelerate, intellectual function will be consistent with marked mental retardation, and many autistic behaviors will emerge. The prevalence is almost exclusively in females since the defective gene is on chromosome X. The few male cases are considered controversial, even those occurring in patients with Klinefelter’s disorder with XXY chromosomes.

In Childhood Disintegrative Disorder, there is a prolonged period of normal development followed by a marked regression in numerous areas of development, including communication. Most cases deteriorate to a lower level of functioning and stabilize. A few make mild or moderate recovery.

In Asperger’s Disorder, language development appears normal, but there are difficulties in social skills, especially after school age. Children have intense interest in a small range of topics and may have stilted or professor-like speech. Patients frequently have early motor deficits with persistent clumsiness.

In Pervasive Development Disorder, NOS, parents may note difficulties in social interactions, rigidity in transitioning from one activity to another, and unusual sensitivities (inability to tolerate clothing tags, sensitivity to food textures, smelling every object) within the first years of life. Additional behaviors, such as stereotypical movements, fascination with parts of objects, and lining up toys may be present. Speech has a pedantic quality.

To Distinguish Autistic / PD Disorders from Similar Presentations:

In Mental Retardation or Borderline Intelligence, social and communication skills are consistent with the overall developmental level. Severe or Profound Mental Retardation may have autistic-like features. Remember that comorbidity of mental retardation with Autistic Disorder ranges from 20-70%.

Patients with language-related disorders, such as Expressive Language Disorder and Receptive Language Disorder generally have intact social skills, no stereotypies and no restricted interests.

Selective Mutism is an anxiety disorder that occasionally is confused with Autistic Disorder because of the lack of communication in social situations. However, families usually report that the selective mutism is not present at home.

Similarly, Social Anxiety Disorder may be confused with PDD, NOS, but does not lack the communication deficits in settings other than those viewed as anxiety-provoking.

Occasionally patients with Obsessive-Compulsive Disorder present with preoccupation with a particular topic, but there usually are no language deficits and most social skills are intact.

Reactive Attachment Disorder patients may demonstrate difficulties with communication and social interactions, but there is usually a history of severe neglect or abuse. When these patients are in a comfortable environment, social skills may be adequate.

Trying to distinguish stereotypical behaviors from motor tics can be difficult. It is important to evaluate communication skills and social skills that are usually normal in patients with Tic Disorders.

Patients with personality disorders, such as Avoidant Personality Disorder and Schizoid Personality Disorder, may present with avoidant behaviors that may appear as deficits in social skills, but there are rarely language deficits noted.

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COMORBIDITY:

ADHD symptoms frequently accompany autistic symptoms, but the current DSM-IV does not allow separate diagnoses.

Mental retardation commonly occurs with Autistic Disorder and may occur with PDD, but not Asperger syndrome. In a British study, 20% of children with Autistic Disorder had severe-to-profound mental retardation and 50% had mild-to-moderate mental retardation. The diagnosis of Fragile X is present in approximately 3-4% of children diagnosed with an autistic disorder.

Anxiety disorders are the most frequent comorbid psychiatric diagnosis in patients with autistic disorders. Perseveration about certain topics and compulsive behaviors are common and may respond to use of an SSRI. Depression, psychosis and eating disorders occur much less frequently.

Sleep disorders frequently occur in children with an autistic disorder and it has been noted that there are melatonin abnormalities in some children.

Very rarely children may have tuberous sclerosis or neurofibromatosis. Children with fetal alcohol syndrome have an increased risk of an autistic disorder as well as other neurodevelopmental disorders. Two other rare comorbidities are Angelman syndrome with deletion of 15q and Smith-Lemli-Opitz syndrome.

Seizure disorder is common in Rett syndrome. Additional symptoms include motor problems, scoliosis and apnea.

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TREATMENT OF AUTISM AND OTHER PERVASIVE DEVELOPMENTAL DISORDERS:

Awareness of developmental delays is extremely important in arranging for early interventions.  While a definitive diagnosis may not be possible before the age of 2, there is increasing awareness of autistic disorders and pediatricians and family physicians are arranging for evaluations by specialty health clinics and early intervention academic programs, especially for social and language skill development,  from a very young age.  Setting up parents with information and access to support groups can be crucial.  For older patients, early planning for possible group living / community day programs / vocational programs can help with transitioning to adulthood.

 In general, because the symptoms are across a wide range of developmental and behavioral problems, the patients and their families are best served by a multidisciplinary team. Multidisciplinary treatment can include evaluations by developmental specialists, speech and language pathologists, neuropsychologists, geneticists, gastroenterologists, social workers and behavioral specialists.  Local Area Educational Agencies (AEA) have specialists who can help parents through the school systems.

Pharmacological Treatment:

Pharmacological treatment is not specific to autistic disorder, but targets symptoms that are significant.

ADHD is a frequent comorbid diagnosis, but there is minimal evidence that stimulants are beneficial.  If stimulants are used, it is better to start at a much lower dose than would be recommended normally for weight.  There may increased stereotypical behaviors after initiation of a stimulant medication.  Clonidine and guanfacine have been beneficial in several studies. There is limited evidence for the efficacy of atomoxetine in controlling ADHD symptoms.

If there are significant aggressive behaviors, usually an alpha-2 agonist, such as guanfacine or clonidine, is tried first, beginning at very small doses and very gradually increasing to 1.5 mg BID of guanfacine and 0.1 TID of clonidine.  Parents must be warned of issues relating to hypotension and the need to maintain hydration, especially in the summer months.  Beta-blockers, such as propranolol, have also been used for explosive outbursts.

If there are persistent problems with aggressive behaviors, use of an antipsychotic medication, such as risperidone or aripiprazole, may be necessary.  Once again starting with a small dose, such as 0.25 or 0.5 mg of risperidone or 2.5 mg of aripiprazole, is recommended.  Lab work should include fasting lipids, prolactin, hemoglobin A1c, AST, and ALT. Mood stabilizers, such as valproic acid, levetiracetam and topiramate, have also been used.  

For rigidity, anxiety or depressive symptoms, use of a selective serotonin reuptake inhibitor (SSRI) is recommended.  Buspirone has been used for anxiety symptoms and mirtazapine has been used for anxiety and depression symptoms with the side effect of increased sedation and increasd appetite.

For sleep disturbances, melatonin, initially 3-6 mg with dinner, has been found beneficial in improving the wake-sleep cycle. It can be increased up to 15 mg with no noted adverse side effects. Ramelteon, diphenhydramine and hydroxyzine have also been used to promote sleep. Usually clonidine or an atypical antipsychotic given at bedtime also promotes sleep.

If language issues are a major issue, memantine has been used at 5 mg BID.

There are documented GI issues associated with autistic diagnoses.  Regular bowel protocols can be recommended to parents as well as methods of introducing more fiber in the diet of individuals who are usually picky eaters.

Educational / Psychotherapeutic Interventions:

There are numerous intervention programs that have been developed to target autistic smptoms, but there is no evidence to support one specific methodology. Available techniques include applied behavioral analysis (ABA), occupational therapy, physical therapy, speech therapy, structured teaching and social skills therapy.

Common features in programs that have documented success in improving cognition, communication and social skills include early and intense intervention programs in a very structured environment, low teacher:student ratios, interactions with similar peers, and parental training and involvement in the therapy.

Applied behavioral analysis (ABA), including Early Intensive Behavioral Intervention (EIBI), uses 1:1 discrete trial teaching involving the classic stimulus – response – reward system. Initially the focus is simply to allow the patient to acquire basic skills, such as attention, responding to cues and imitation. Reviews and metanalyses of interventions for Autistic Disorder / PDD have reported sustained academic growth, improved adaptive behavior and enhanced language skills, especially in working with preschool children.

Parent training programs, such as Parent Education and Behavior Management (PEBM) and Parent-Child Interactive Therapy (PCIT) have also been shown to be effective in randomized controlled trials.

Sensory integration therapy has received significant marketing with parental support, but its efficacy is not supported by scientific research.

Caution should be advised before use of extreme vitamin/supplement programs or diet programs since most have little or no scientific evidence to support efficacy and there is the potential for harm. Chelation therapy also has no evidence-based research to support its use and there has been at least one death associated with it. Other potentially dangerous treatments including aversion therapy and packing.

It is always important to remember the toll that a child with an autistic disorder places on a family. Family members should be monitored for depressive and anxiety symptoms and encouraged to seek help if appropriate.

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BIBLIOGRAPHY:

  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. AACAP. 1999.
  2. American Psychiatric Association. Diagnostic and Statistical Manual. 4th ed. Washington, DC: APA Press, 1994.
  3. Filipek, PA, et al. Practice parameter: screening and diagnosis of autism: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Child Neurology Section. Neurology. 2000. 55:468-479.
  4. Landa, RJ. Diagnosis of autism spectrum disorders in the first 3 years of life. Nature Clinic Practice: Neurology. 2008. 4(3): 138-147.
  5. Myers, SM; Plauche Johnson, C; and the Council on Children with Disabilities. Management of children with autism spectrum disorders. Pediatrics 2007. 120:1162-1182.
  6. Plauche Johnson, C; Myers, SM, and the Council on Children with Disabilities. Identification and evaluation of children with autism spectrum disorders. Pediatrics 2007. 120:1183-1215.
  7. Shep,Y, et al. Clinical genetic testing for patients with autism spectrum disorder. Pediatrics. 2010. 125:e727-e735.
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