Autism Spectrum Disorders
Girls with ASD
There is relatively little research on girls on the autism spectrum. Some research suggests girls are over-represented in the lower IQ portion of the spectrum. However, it is also possible that less severely affected girls are being missed because their behavior is somewhat less disruptive than that of boys.
Practice Parameters for the Assessment and Treatment of Children, Adolescents and Adults with Autism and Other Pervasive Developmental Disorders (1999) --- treatment
Accepted modalities of treatment include: 1) Psychosocial treatments such as education, parent training, speech language therapy, occupational and physical therapy, and behavioral modification (Applied Behavior Analysis). 2) Medical interventions, including medications: many are treated with stimulants for ADHD symptoms, or selective serotonin re-uptake inhibitors (SSRI's) for depression, anxiety or OCD. Some receive atypical antipsychotics such as *Risperdal* ----- Goal of treatments with medication is to reduce symptoms, not cure autism.
Associated disorders
Attention Deficit Hyperactivity Disorder anxiety disorders mood disorders
How is a thorough diagnosis done? --- gold standard
Autism Diagnostic Interview- Revised Autism Diagnostic Observation Schedule-2 ADI-R can be used with children and adults *4 and older* ADOS-2 with children and adults *18 months and older* Note: Both of these instruments require *special training* to use, are relatively expensive to buy from the publisher and are *not suitable for office screening* They are usually used as part of a full assessment battery done by an autism assessment specialist.
Possible causes of Autism -- developmental brain disorder
Current research shows ASD is related to differences in neurodevelopment. These differences in the brain interact with child's experiences and learning over time to produce different developmental outcomes.
ASD red flags in Very Young Child
# Regression # "In his own world" # Lack of showing, sharing interest or enjoyment # Using the caregiver's hands like a tool to obtain needs # Repetitive movements with objects # Lack of appropriate gaze # Lack of response to name # Unusual prosody/pitch of vocalizations # Repetitive movements or posturing of body
How is a thorough diagnosis done? --- other instruments
(support diagnosis in older children & adults) Social Responsiveness Scale-2 Autism Spectrum Quotient Empathy Quotient Ritvo Autism Asperger's Diagnostic Scale Childhood Autism Rating Scale (CARS) Of these, the SRS-2 and CARS must be purchased from the publisher. The others are available at no cost. However all should be used by professionals trained to interpret them
Some other areas that may be developmentally different in autism spectrum disorders include
*cerebellar vermis* *corpus callosum* *fusiform gyrus* • Recent research also suggests problems in connectivity among different areas of the brain in autism: areas that should work together rapidly and efficiently do not.
Criteria of Autism (must be met for dx)
1. starts in early in life & persists 2. difficulty in social relationships (difficulty understanding what other think or feel & behaving appropriately) 3. difficulty in social communication (often but not always delayed in language, and they usually have trouble using gesture to communicate, particularly early in life. Even if they have a great deal of language (many do), they communicate in ways that are unusual (e.g., stereotyped or repetitive speech, socially inappropriate speech, odd intonation, poorly developed gesture and eye contact)) 4. restricted or focused interests (ranging from stereotyped or repetitive behaviors such as rocking or flapping, to elaborate fixations on specific topics or activities. Many people with autism have difficulty accepting changes or transitions.)
Screening in the doctor's office:
Baron-Cohen et al (2000) devised a brief screening instrument (the CHAT) for use with young children (about *18 months* old) to identify those at high risk for autism. It has been revised and updated into the M-CHAT. More recently the American Academy of Pediatrics has recommended early screening procedures for all children in order to identify autism as early as possible.
The Brain in Autism: Problems to be addressed
Can a model of brain development account for the social and emotional deficits in ASD's? Can a brain model account for the great range of outcomes among persons on the autistic spectrum of disorder, or for differences in course of development?
Intellectually Able (Higher IQ) Children with ASD
Can be missed because they are verbal and bright, may even have special talents such as very early reading. May sound "pedantic", have very focused interests, be socially insensitive to other people ("lack of empathy"), be prone to anxiety and fears. **These children especially are at risk for bullying by peers and not getting their needs met in school. **
Autism
Developmental Disorder: it starts very early in life and continues to develop and change along with the person affected.
Practice Parameters for the Assessment and Treatment of Children, Adolescents and Adults with Autism and Other Pervasive Developmental Disorders (1999) --- basic elements of assessment
Historical information psychiatric examination of the child medical assessment psychological assessment speech/language/communication assessment occupational and physical therapy assessments.
How early can Autism be diagnosed?
In the past diagnosis often did not occur until school age. Now more commonly diagnosed by age 4 and quite often by 2 or 3 years. Recent study of baby siblings of children with known autism suggests unresponsiveness to their name in the first year of life (ruling out deafness) is a risk factor for autism diagnosis later on.
Educational Issues in ASD
Individual needs, individual programs. Adapting to changing needs over time is important; individual educational needs vary, there is no one program that fits all with autism spectrum disorders; great care is needed in the evaluation of profiles of ability for children with autism spectrum disorders. Many intellectually able students with autism spectrum disorders do not have significant delays in basic reading, spelling and arithmetic. Others have significant learning problems or mental retardation that result in educational needs. Verbal children with autism spectrum disorders may have an advantage in some aspects of reading (phonological decoding) and a disadvantage in others (comprehension). School issues often center on behavior, socialization. Peer relationships and appropriate behavior are major issues. However, bullying is also now recognized as a major risk. Social skills training and educating teachers and peers can help.
Risk Factors for Autism --- Genetics
Intensive recent research finds multiple candidate genes that may be involved but none that suggests a single genetic factor more likely a complex genetic contribution reflecting multiple traits It is likely some genes increase susceptibility to autism, while others may bring about specific symptoms such as language problems. Areas on chromosomes *2, 7, 13, 15, 16, 17* have been identified as likely loci of genetic risk. Risk of autism spectrum disorder is elevated in persons with a sib with autism (*2-8%*). Although identical twins are often concordant for autism (*60%*), they are not necessarily so. Thus, other factors than genetics must play a role.
Prognosis
Language in any form before age 5 years, including echolalic language, is a good sign. However, a small number of children with no language before age 5 do develop it later on. Early intervention *does* make a difference in outcome, and thus early screening and assessment should not be delayed.
Autism & emotion
People on the autism spectrum typically have problems in emotion regulation Difficulty modulating responses to stress --> extended outbursts or withdrawal --> anxiety and distress, often chronic
Possible causes of Autism -- bad parenting?
The "refrigerator mother". --- Not likely a cause, however families with a child with ASD are usually affected by the experience of caring for the child. --- Family relationships, sibs can be adversely affected by stress, time pressures, re- direction of resources, etc. --- Divorce is common. Research suggests children with ASD do have attachment to their caregivers, but that does not mean their relationships are the same as those of typically developing children.
Additional symptoms often but not always associated with autism include:
Sensory differences (e.g. highly reactive to smells, noises, textures etc.) toe walking or other gait differences gross motor incoordination and fine motor problems odd vocal intonation tactile defensiveness echolalic or stereotyped (repetitive) speech dysgraphia (writing deficiency) intellectual disability (mental retardation) or specific learning disabilities problems in executive functioning (planning, organizing, remembering, attention and concentrating).
Specifiers for DSM5 diagnosis of ASD
With or without accompanying intellectual impairment With or without accompanying language impairment Associated with a known medical or genetic condition or environmental factor Associated with another neurodevelopmental, mental, or behavioral disorder With catatonia (refer to the criteria for catatonia associated with another mental disorder, pp. 119-120, for definition)
Autism spectrum disorders are associated with disorders that:
can affect the temporal lobe (temporal lobe epilepsy, tuberous sclerosis)
Practice Parameters for the Assessment and Treatment of Children, Adolescents and Adults with Autism and Other Pervasive Developmental Disorders (1999) --- clinicians plan of action
clinician should establish target symptoms for intervention and goals for educational intervention should prioritize target symptoms and co-morbid conditions should monitor multiple domains of the child's functioning, such as behavioral adjustment, adaptive skills, academic skills, social interaction, and communication should monitor any medications for efficacy and side effects.
The Child Development Inventories.
consist of 3 tests all of which are intended to be completed by parents. The first is a screening questionnaire for parents that surveys PPD (pervasive dev. disorders) symptoms *without regard to age appropriateness* The second, known as the Infant Developmental Inventory (IDI), is appropriate for administration to young children, *18 months or less* ---- measures important milestones by months as per normal development. --- Parents can use the IDI chart as a general guide for tracking their child's relative developmental progress. The third test in this series, called the Child Development Inventory, is appropriate for toddlers and preschoolers.
The Parents' Evaluation of Developmental Status (PEDS)
designed to assist *parents* determine whether their children are developmentally delayed. It is appropriate for use with children *under eight years old* The questionnaire contains only *10* questions so it is completed very quickly. PEDS is usually administered before the CHAT and M-CHAT screening tests.
Social Communication Questionnaire
formerly known as the Autism Screening Questionnaire contains 40 items that are useful in identifying possible pervasive developmental disorders This test focuses on social interaction and language development and is appropriate for *most age groups* This test should be considered a screening test only.
Recent findings suggests brain impairment in:
frontal & temporal lobes People with autism and Asperger syndrome have deficits in executive functioning (frontal cortex), emotion recognition and expression (amygdala and other limbic structures).
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*
How children with ASD often present: --- ages 3 and younger
little or no language, or with unusual-sounding or repetitive language (echolalia) repetitive play poor eye contact behavior problems such as tantrums and hyperactivity unusual behaviors such as motor stereotypies (e.g., flapping, twirling around) sensory differences (e.g., strong negative reactions to certain sounds or tastes/textures strong desire to touch certain things or put them in the mouth tendency to watch certain things such as own moving fingers, fans, toilets flushing etc.).
Risk Factors for Autism --- Environmental factors
no strong evidence for any particular environmental teratogens. Studies of vaccines and Thimerosal (a preservative containing mercury that was used in some vaccines) in relation to autism have not found evidence of an association. This does not rule out the possibility that other teratogens could play a role, or that a subset of children have special vulnerabilities to particular environmental agents.
Brains of young children with autism appear to have
overgrowth early and are less discrepant from peers at later ages. Eric Courchesne and Cynthia Schumann have published data in the Journal of Neuroscience that suggest the excess brain growth starts in the first year of life. Using cross-sectional MRI scans, they found overgrowth in brains of children as young as one and a half. At *two and a half*, the children with autism's brains were *7 percent* larger on average than the control group's. Overgrowth may reflect a lack of normal developmental "pruning" especially in frontal and temporal regions.
Practice Parameters for the Assessment and Treatment of Children, Adolescents and Adults with Autism and Other Pervasive Developmental Disorders (1999) --- unproven 'treatments'
secretin auditory training facilitated communication chelation therapy Some people have reported success with interventions that have less evidence: e.g., diets, vitamins, equine therapy These are being researched.
fMRI studies
show frontal lobe activation is linked to performance on cognitive tasks on reasoning about others' mental states persons with autism spectrum disorders have reduced activation. Structural MRI studies found smaller volumes of tissue found in amygdala and hippocampus in autism spectrum disorders.
Severity of diagnosis based on:
social communication impairments & restricted repetitive patterns of behavior
The Ages and Stages Questionnaire
unique in that it has 19 variations which are selected according to the subject child's age. The variations cover ages between *4 - 60 months* old. This test focuses on communication, motor skills, social skills and problem solving. Parents responses determine if their child should receive further evaluation.
How children with ASD often present: --- older children
unusual social behavior or lack of relatedness with peers be prone to outbursts and anxiety have focused interests or repetitive behaviors social immaturity strong ADHD characteristics
Outcomes for People with ASD
• Changing needs with development; vocational and residential issues all are problematic for people with autism • The "bad news": autism cases are increasing in number. ----- Reasons for increase in cases are still controversial ----- No evidence to support a source such as vaccinations, although teratogens have not been ruled out ---- Changes in ascertainment of cases (broader diagnostic criteria, increased public awareness and medical screening) have contributed • The "good news": More people with autism are living independent lives than ever before. There is a great deal of ongoing research on treatments for autism.
While the first four criteria above must be met for the dx of Autistic Disorder to be given, not all of these symptoms are specific only to people with autism.
• For example, language delay in young children may be related to diverse conditions ranging from hearing loss to specific language disorders to severe intellectual disability (mental retardation). • Repetitive behaviors of various kinds can be present in persons with severe intellectual disability, and also in persons with Obsessive and Compulsive disorders or Tourette syndrome, where they do not necessarily mean autism is also present. • The deficits in social communication are the most central and characteristic of autistic disorder.
Some issues that complicate our search for a brain model of autism:
• Heterogeneity of autism spectrum disorders • Brain impairment in autism is likely to be distributed rather than localized • The impaired brain changes with development • Model of autistic development must account for not only brain but behavior and environment
Variations in Autism Spectrum
• Intellectual level (varies from very profound disability to intellectually superior) • Verbal ability (profoundly disabled to superior) • Social skills (by definition, below expected level for IQ and developmental level). • Repetitive/stereotyped behaviors and interests (ranging from motor stereotypies such as rocking and flapping to elaborate specialized interests). • Presence, type and degree of sensory differences • Presence and degree of motor differences • Developmental course ("regressors" in second year of life, vs. those with clear early signs) • Presence of other medical issues such as seizures, gastrointestinal problems (constipation, diarrhea, encopresis, pain) • Severity and type of co-morbid psychiatric conditions including attention deficit/hyperactivity symptoms, anxiety disorders, aggressive behaviors, etc. • Longer term outcome: some people remain severely disabled, whereas others go on to live much more independent lives.
DSM 5 - Major changes to the autism categories compared to DSM-IV
• No more Asperger's or Pervasive Developmental Disorder -NOS or Autistic Disorder • "Autism Spectrum Disorder" - with modifiers related to language and intellectual level • Social deficits and communication deficits collapsed into "social communication deficits" • Concerns about removing the Asperger's category and about possibility of excluding more mildly affected individuals
