Autism/Pervasive Developmental Disorders Update Kimberly Macferran, MD Pediatric Subspecialty for the Primary Care Provider December 2, 2011
Overview Diagnostic criteria for autism spectrum disorders Screening/referral Associated medical problems Treatments/therapies
Prevalence Prevalence is 1 in 110 children Four times more common in males
Pervasive Developmental Disorders Autistic Disorder PDD- NOS Asperger s s Disorder Rett s s Syndrome Childhood Disintegrative Disorder
Autism Spectrum Disorders (ASD) Autistic Disorder PDD- NOS Asperger s s Disorder
Autistic Disorder (A) Qualitative impairment in social interaction Marked impairments in the use of multiple nonverbal behaviors such as eye-to-eye gaze, facial expression, body posture, and gestures to regulate social interaction Failure to develop peer relationships appropriate to developmental level Lack of spontaneous seeking to share enjoyment, interests, or achievements with other people Lack of social or emotional reciprocity
Autistic Disorder (B) Qualitative impairments in communication Delay in, or total lack of, the 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
Autistic Disorder (C) Restricted repetitive and stereotyped patterns of behavior, interests and activities 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 Stereotyped and repetitive motor mannerisms Persistent preoccupation with parts of objects
Autistic Disorder 6 Total Deficits: 2 or more deficits with Social Interactions 1 or more deficits with Communication 1 or more Repetitive/stereotypic behaviors Onset prior to 3 years of age
Asperger s Disorder Deficits with Social Interactions Repetitive/stereotyped behavior or interests No clinically significant delay in language Clinically significant impairment in social, occupational, or other important areas of functioning No clinically significant delay in cognitive development
Pervasive Developmental Disorder Not Otherwise Specified (PDD-NOS) Severe and pervasive impairment in the development of reciprocal social interaction Associated with impairment in either verbal or nonverbal communication skills OR Presence of stereotyped behavior, interests, and activities Do not meet criteria for either Autistic Disorder or Asperger s Disorder
Proposed DSM-V Criteria for Autism Spectrum Disorder Must meet criteria A, B, C, and D: A. Persistent deficits in social communication and social interaction across contexts, not accounted for by general developmental delays, and manifest by all 3 of the following: 1. Deficits in social-emotional reciprocity; ranging from abnormal social approach and failure of normal back and forth conversation through reduced sharing of interests, emotions, and affect and response to total lack of initiation of social interaction, 2. Deficits in nonverbal communicative behaviors used for social interaction; ranging from poorly integrated- verbal and nonverbal communication, through abnormalities in eye contact and bodylanguage, or deficits in understanding and use of nonverbal communication, to total lack of facial expression or gestures. 3. Deficits in developing and maintaining relationships, appropriate to developmental level (beyond those with caregivers); ranging from difficulties adjusting behavior to suit different social contexts through difficulties in sharing imaginative play and in making friends to an apparent absence of interest in people
Proposed DSM-V Criteria for Autism Spectrum Disorder B. Restricted, repetitive patterns of behavior, interests, or activities as manifested by at least two of the following: 1. Stereotyped or repetitive speech, motor movements, or use of objects; (such as simple motor stereotypies, echolalia, repetitive use of objects, or idiosyncratic phrases). 2. Excessive adherence to routines, ritualized patterns of verbal or nonverbal behavior, or excessive resistance to change; (such as motoric rituals, insistence on same route or food, repetitive questioning or extreme distress at small changes). 3. Highly restricted, fixated interests that are abnormal in intensity or focus; (such as strong attachment to or preoccupation with unusual objects, excessively circumscribed or perseverative interests). 4. Hyper-or hypo-reactivity to sensory input or unusual interest in sensory aspects of environment; (such as apparent indifference to pain/heat/cold, adverse response to specific sounds or textures, excessive smelling or touching of objects, fascination with lights or spinning objects). C. Symptoms must be present in early childhood (but may not become fully manifest until social demands exceed limited capacities) D. Symptoms together limit and impair everyday functioning.
Surveillance/Screening Developmental surveillance at every health supervision visit Family history Parental concerns regarding development and behavior Developmental milestones Observation during clinic visit Screening with standardized developmental tool Anytime concerns are raised through surveillance process ASD-specific screening at the 18 and 24 month visits Physician estimates of developmental status are much less accurate when based only on clinical impressions compared to using formal screening tools
Johnson CP, Myers SM, American Academy of Pediatrics Council on Children With Disabilities. Identification and evaluation of children with autism spectrum disorders. Pediatrics. 2007; 120: 1183-1215.
Screening Tools M-CHAT (Modified Checklist for Autism in Toddlers) Most commonly used 23 yes/no items For children 16 to 30 months Follow-up interview if fail 2 critical items or 3 total items Available in many different languages Available online Other tools Checklist for Autism in Toddlers (CHAT) Pervasive Developmental Disorders Screening Test-II, Primary Care Screener (PDDST-II PCS) Childhood Autism Spectrum Test (CAST) for children ages 4-11 years
Next Steps Refer for Comprehensive evaluation Early Childhood Intervention (ECI) if less than 3 Special education department of the local school if older than 3 Preschool Program for Children with Disabilities (PPCD) in Texas Audiologic evaluation Talk to parents about your concerns and provide education
Comorbid Conditions Cognitive Impairment/Mental Retardation/Intellectual Disability Sensory Problems ADHD symptoms Mood Disorders Anxiety Disorders
Associated Medical Problems Seizures GI problems Constipation Diarrhea Limited food preferences Sleep problems
Therapies Speech/Communication Therapy Sign Language Picture Exchange Communication System (PECS) Electronic Communication Devices Occupational Therapy Behavioral Therapy Applied Behavior Analysis Treatment and Education of Autistic and Related Communicationhandicapped Children (TEACCH) Social Skills Training Social Stories
Medications Target specific symptoms No medications to treat the core symptoms ADHD symptoms Stimulant medications Methylphenidate Amphetamine salts, dextroamphetamine Less effective than in neruotypical children More side effects Alpha-2 agonists Clonidine Guanfacine Atomoxetine
Medications Aggressive behaviors or irritability Atypical antipsychotics Risperidone (Risperdal) Aripiprazole (Abilify) Alpha-2 agonists Selective Serotonin Reuptake Inhibitors Anxiety Selective Serotonin Reuptake Inhibitors Sleep problems Melatonin Clonidine Antihistamines
Medical Home Maintain open communication with the family Management of coexisting medical problems Consider medical problems when there are new or worsening behaviors Know about local resources Family support groups Special Olympics
References American Academy of Pediatrics. Understanding autism spectrum disorders (ASDs). 2006. American Psychiatric Association. Diagnostic and statistical manual of mental disorders: DSM-IV-TR. Fourth Edition, Text Revision. Washington, DC: American Psychiatric Association, 2000. Johnson CP, Myers SM, American Academy of Pediatrics Council on Children With Disabilities. Identification and evaluation of children with autism spectrum disorders. Pediatrics. 2007; 120: 1183-1215. Myers SM, Johnson CP, American Academy of Pediatrics Council on Children With Disabilities. Management of children with autism spectrum disorders. Pediatrics. 2007; 120: 1162-1182. www.dsm5.org