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Level 2: Diagnosis

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Stephanie Obusan

on 19 September 2014

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Transcript of Level 2: Diagnosis

Assessment should be performed by an experienced clinician
screen older children (school-age) as well
clinical judgement + diagnostic tools such as the
, checklists, etc.
Teamwork/Collaboration effort

Autistic Spectrum Disorder vs. Autistic Disorder
ASD is not that different with AD when it comes to the severity or presence of receptive/sensory behaviors
ASD have higher verbal skills than AD

Expanded Medical & Neurological Evaluation
includes birth, medical, developmental & family histories
also includes general, physical, neurological, cranial nerve & motor examination
Expanded Medical & Neurological Evaluation
Autism Diagnostic Tools
Diagnostic Parental Interviews/Questionnaires:
Autism Diagnostic Tools
Direct, Structured Observation:
Level 2 laboratory investigation
Metabolic testing
Genetic testing
Electrophysiologic testing
Tests of unproven value

Level 2 laboratory investigation
to be continued...
Verenice Orozco
Allison Li
LeeAnn Tran
Stephanie Obusan

Level 2: Diagnosis & Evaluation of Autism
Birth History
increase of only mild obstetrical complications
no association was found between autism and gestational age or occurrence between
infection, diabetes, toxemia etc
no association between autism and birth weight, Cesarian delivery, prolonged labor etc.
possible mild association between autism and increased obstetrical risk factors
Medical & Developmental History
developmental milestones,
developmental regression at any age,
encephalopathic events
attention deficit disorder
seizure disorder
troublesome behavior
Family History
autism, fragile X syndrome, tuberous sclerosis
Fragile X
association of fragile x and autism is
Tuberous Sclerosis Complex
affects other organ systems such as the
heart and kidneys.
have been strongly associated with autism
Physical & Neurological Examination
head circumference
general examination
mental status examination
cranial nerve
motor examination
twin studies
affective and anxiety disorder
what is
demonstrate significant intellectual disability, behavioral and learning challenges
males are more frequently affected than females
According to the
National Fragile X Foundation
Head circumference
larger for children with Autism
it appears in early to mid-childhood
General Examination
using a hand held ultraviolet light (Wood’s Lamp)
unusual features (of facies, limb, stature) should be also noted as well
Mental Status Examination
social interactions, play, language, and communicative function.
hallmark of autism:
Cranial Nerve Examination
abnormalities were uncommon in a large sample of children with autism
Motor Examination
impairments of _____ and ______
motor function have been reported
limb apraxia
motor stereotypes were also found
first visible sign
of TSC.
Specific Evaluations to determine
the Developmental Profile
• Speech-Language Communication Evaluation
• Receptive Language and Communication
• Expressive Language and Communication
• Voice and Speech Production
• Cognitive Evaluation
What additional evaluations are needed?
• OT evaluation
• Behavioral and Academic Assessment
• Neurophsychological Evaluation

Speech-Language-Communication Evaluation
• At level 2, SLP’s responsibility is the
diagnosis and evaluation of autism.
• A variety of strategies should be used – – Examples.
Receptive Language and Communication
• What question do we ask?
• People often assume that a child understands others’ communication! as a result, they interpret lack of response as noncompliant or uncooperative behavior.
Expressive Language and Communication
– Preintentional children: nonverbal, vocal behaviors, facial expression, directed gaze
and gaze aversion, and vocalizations.
– Developmentally more advanced children: intentional use of idiosyncratic and
conventional gestures, vocalizations and
emerging word forms.
Children with autism...
• ... have limited repertoire and
conventional gestures and vocalizations.
• In addition, document the ability to
persist in repairing communication
Voice and Speech Production
• What is their quality and variety of
communicative ability?
– May not be able to acquire and
use speech as a primary mode of
Widely Used Tests for Children with
Language and Communication Disorders
Bangs & Dodson
Others on table V; pg. 463
OT evaluation
Behavioral and Academic Achievement
Assessment of Family Functioning
and Resources
• Family is best resource
• Have a strong impact on child
• Determine level of understanding
• Support?
• Families readiness
• Need and availability of social services
Differential Diagnosis of Autistic Spectrum Disorders
The differentiation of autism from other developmental disorders is established during Level 2
Includes intellectual disabilty, specific developmental disorders, and other psychiatric conditions
Comorbid Conditions
Often coexists with autism
Specific Developmental Disorders
Onset in early childhood
Lack of typical social development
Selective Mutism
Ability to speak is preserved in some situations, but child is mute in other situations
Stereotyped Movement Disorder
Motor mannerisms
Presence of intellectual disability
Obsessive Compulsive Disorder (OCD)
Avoidant Personality Disorder
Anxiety in dealing with social situations
Intellectual Disability
May mimic autism
Primary deficits
Language or communication, and social skills
Onset in childhood
Progressive deterioration in
mental and motor functioning
Unusual interests and behaviors
Social/Language/Communication skills are preserved
Schizoid Personality Disorder
Relative isolation
Relates normally in some contexts
Reactive Attachment Disorder

History of severe neglect/abuse
Remits in appropriate environments
Metabolic testing
biochemical analyses( urine, blood, cerebrospinal fluid)
Identify a specific metabolic abnormality in individuals with autism
the percentage of identifiable metabolic disorder is probably less than 5%.
Genetic testing
Involving the proximal long arm of chromosome 15(15q11-q13)
Angelman syndrome
DNA analysis for fragile X and high resolution chromosome studies
there is no current method to detect autism prenatally
Electrophysiologic testing
EEG test

the prevalence of epilepsy in a large cohort
of preschool children with autism

There is inadequate evidence at the present time to recommend EEG studies in all individuals with autism.

the use of CT in the 1970s and 1980s

Routine clinical neuroimaging does not have any role in the diagnostic evaluation of autism

Test of unproven value
There is inadequate evidence to support routine clinical testing of individual with autism for hair analysis for:
trace elements
celiac antibodies
allergy testing( in particular food allergies for gluten, casein, candida and other molds)
immunological or neurochemical abnormalities,
stool analysis
urinary peptides
mitochondrial disorders( including lactate and pyruvate),
thyroid function tests, or erythrocyte glutathione peroxidase studies.
Referral to early intervention
Reevaluation at least within a year of initial diagnosis and continued monitoring is an expected aspect of clinical practice, because relatively small changes in
developmental level affect the impact of autism in the preschool years.

Other recommendations
Existing managed-care policy
Existing governmental agencies
To public
To health-related and educational-related professionals
Recommendations for future research
Further research focused on..
requires more time to conduct
Discussion Questions
1) What are some common features found in those with Autism?
2)What is selective mutism?
3) In referral to early intervention, when should we reevaluate the individual?
4) Which gender is frequently affected by those who have Fragile X?
5)As future SLPs, what would you suggest the future research to focus on?

Fragile X Syndrome. (n.d.). Retrieved September 18, 2014, from http://www.fragilex.org/fragile-x-associated-disorders/fragile-x-syndrome/
McCaffrey, P. (n.d.). Apraxia: Definition and Description/Site of Lesion. Retrieved September 18, 2014, from http://www.csuchico.edu/~pmccaffrey/syllabi/SPPA342/342unit8.html
Filipek. , Accardo, , Baranek, , & cook, (1999). The screening and diagnosis of autistic spectrum.Journal of Autism and developmental disorders,29(6),
Cognitive Evaluation

• Knowing the child’s cognitive status is important in determining his overall level of functioning.
– Key criterion in the diagnosis of autism
Adaptive Behavior Evaluation
• A psychologists should measure adaptive function.
• In order for children to be considered to have an intellectual disability they should have a subaverage IQ and a concurrent deficit in adaptive functioning.
• The Vineland Adaptive Behavior Scales
• The Scales of Independent Behavior-Revised
Sensorimotor Assessment and Praxis

• Not enough research!
– Use parent report and observations as a guide
• Focus: underlying neurological deficits
• We can see stereotypies behaviors specifically during preschool
• Not part of routine evaluation
• Recommended on an individual basis
• Ages 4-9 y.o.
– detect specific patterns of sensory integrative dysfunction.
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