Autism diagnosis

PRESENTER
AFIDAH ABDULLAH DL1419224
ANIS EMYSHARIDA OTHMAN DL 1413640

Pervasive developmental disorders

• Diagnostic Criteria for Autism:
• A. 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):
(1). Qualitative impairment in social interaction,
(2). Qualitative impairments in communication,
(3). Restricted, repetitive, and stereotyped patterns of behavior,
interests, and activities
• B. Delay or abnormal functioning in at least 1 of the following areas,
with onset < age 3 yr:
(1) social interaction,
(2) language as used in social communication, or
(3) symbolic or imaginative play
• C. The disturbance is not better accounted for by Rett disorder or
childhood disintegrative disorder

a. Marked impairment in use of multiple nonverbal behaviors, such as
eye-to-eye gaze, facial expression, body postures, and gestures to
regulate social interaction
b. Failure to develop peer relationships appropriate to developmental
level
c. 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)
d. Lack of social or emotional reciprocity

a. Delay in, or total lack of, development of spoken language (not
accompanied by an attempt to compensate through alternative modes
of communication, such as gesture or mime)
b. In individuals with adequate speech, marked impairment in ability
to initiate or sustain a conversation with others
c. Stereotyped & repetitive use of language or idiosyncratic language
d. Lack of varied, spontaneous make-believe play or social imitative
play appropriate to developmental level

a. Encompassing preoccupation with ≥1 stereotyped and restricted
pattern of interest that is abnormal in either intensity or focus
b. Apparently inflexible adherence to specific, nonfunctional routines
or rituals
c. Stereotyped and repetitive motor mannerisms (e.g., hand or finger
flapping or twisting or complex whole body movements)
d. Persistent preoccupation with parts of objects

• Autistic Disorder
• CLINICAL FEATURES.
• Neurodevelopmental disorder.
• Clinical presentation varies with severity of impairment.
• Despite the variability in the clinical pattern, all children with autism
manifest :
-Some degree of impairment in areas of
-Reciprocal social interaction,
-Communication,
-Restrictive and repetitive stereotypical patterns of
-Behavior,
-Interests, or
-Activities.

• Although no pathognomonic symptom or behavior is seen
in all children with autism, most children have some impairment
in ‘joint attention’ or ‘pretend play’.
• Joint attention is
“ the ability to use eye contact & pointing for the purposes of
sharing experiences with others ”.
(Develops by 18 mo)

• Other precursor skills to joint attention that are often absent in
children with autism are
• Protoimperative pointing
“ Pointing to obtain an object of desire”
and
• Protodeclarative pointing
“ Pointing to an object of interest ,simply to have another
person share in the interest with him or her).

Some children with autism
Make no eye contact and Show intermittent engagement
seem totally aloof. with their environment :
May make inconsistent eye contact,
smile, and hug.

Varying verbal abilities
Nonverbal Have advanced speech,
imitate songs, rhymes.
-Most notable is the quality of speech and language.
-Speech may have an odd intonation.
-May be characterized by echolalia, pronoun reversal, nonsense
rhyming, other idiosyncratic language forms.

Intellectual functioning
Mental retardation -Superior intellectual functioning in
select areas.
-Some show development in certain
skills.
-May even show areas of strength in
specific areas. Eg: puzzles,art,music.

• Play skills are typically aberrant.
• Characterized by little symbolic play, ritualistic rigidity, and
preoccupation with parts of objects.
• Stereotypical body movements, a marked need for sameness,
and a very narrow range of interests.
• Often withdrawn . Spends hours in solitary play.
• Ritualistic behavior prevails, reflecting the child's need to maintain a
consistent, predictable environment.

• Disruptions of routine  Tantrum-like rages.
• Eye contact is minimal or absent.
Sensitivity to stimuli
Heightened sensitivity Lowered sensitivity
to some stimuli to other stimuli.
(Visual scanning of hand and (Diminished responses to pain
finger movements, and lack of startle responses
mouthing of objects, to sudden loud noises)
and rubbing of surfaces)

• NEUROANATOMIC FINDINGS.
• Retrospective analysis of Head circumference & MRI studies, have
shown differences in brain structure in autism.
• Abnormal neurochemical findings also associated; Dopamine,
catecholamine, and serotonin levels or pathways implicated.
• Head circumference in Autistic children:
• AT BIRTH, UPTO 2 MONTHS AGE: Normal or slightly smaller than
normal.
• FROM 6-14 MONTHS, UPTO END OF 2ND YEAR: Abnormally rapid
increase in head circumference.

• NEUROANATOMIC FINDINGS.
• MRI studies in autistic children:
• At 2–4 yr of age: Increased brain volume (increased volume of
cerebellum, cerebrum, and amygdala.)
• Abnormal growth in first 2 yr is most marked in frontal, temporal,
cerebellar, and limbic regions of the brain, the areas of brain
responsible for higher-order cognitive, language, emotional, and
social functions, which are most impaired in autism.
• This period of early, accelerated brain growth stops early in childhood
and is followed by abnormally slow or arrested growth
Areas of underdeveloped & abnormal circuitry in parts of brain.

• DIAGNOSIS.
• Hallmark of Autistic Spectrum Disorders: Aberrant social skill
development.
• Early social skill deficits:
-Abnormal eye contact, -Failure to orient to name,
-Lack of interactive play, -Lack of sharing,
-Failure to smile, -Lack of interest in other children
-Failure to use gestures to point or show
• Combined language and social delays and regression in language or
social milestones are important early red flags for ASD.

• DIAGNOSIS.
• Early signs :
• Unusual use of language or loss of language skills,
• Nonfunctional rituals,
• Inability to adapt to new settings,
• Lack of imitation, and
• Absence of imaginary play.
• Absence of expected social, communication & play behaviors
precedes
Emergence of odd or stereotypical behaviors or unusual language.

• Screening
• Autism varies widely in its severity and sysmptoms and may go
unrecognized ( in mildly affected children or when it is masked by
more debilitating handicaps )
• Doctors rely on a core group of behaviors to alert them to the
possibility of a diagnosis of autism.
• Doctors will often use a questionnaire or other screening instrument
to gather information about a child’s development and behavior.
• Some screening instrument rely solely on parent observations
( combination of parent and doctor observations )
• Doctors will ask for more comprehensive evaluation if screening
instrument indicate the possibility of autism

• Screening
• Comprehensive evaluation requires a multidisciplinary team including
a psychologist, neurologist, psychiatrist, speech therapist and other
professionals who diagnosis children with ASDs
• The team members will conduct a thorough neurological assessment
and in-depth cognitive and language testing.
• Because hearing problems can cause behaviors that could be
mistaken for autism, children with delayed speech development
should also have their hearing tested
• After a thorough evaluation, the teams usually meets with parents to
explain the results of the evaluation and present the diagnosis

• DIAGNOSIS: Screening tools for early detection.
• Checklist for Autism in Toddlers (CHAT):
• Screening tool for 18 mo old children in primary care settings.
• CHAT combines parent responses + direct observation in Clinic.
• High positive predictive value, but low sensitivity.
• Modified Checklist for Autism in Toddlers (M-CHAT):
• 23-item parent questionnaire.
• Good sensitivity and specificity (0.87% and 0.99%, respectively).

• DIAGNOSIS: Screening tools for early detection.
• Pervasive Developmental Disorders Screening Test (PDDST):
• Parent-completed survey for children from birth–3 yr of age.
• Incorporates 3-tiered approach:
-1 for the primary care clinic,
-1 for the developmental clinic, and
-1 for the multidisciplinary autism clinic.
• All 3 tiers measure aspects of language, social skills, pretend play,
attachment, sensory responses, and motor stereotypies.

• DIAGNOSIS.
• Intelligence, as measured by conventional psychologic testing, falls in
the functionally retarded range;
• Deficits in language and socialization make it difficult to obtain an
accurate estimate of intellectual potential.
• Some autistic children perform adequately in nonverbal tests.
• Those with developed speech may show adequate intellectual
capacity.

• DIAGNOSIS.
• “Lack of a theory of mind.”
• Autistic children show deficits in understanding what the other
person might be feeling or thinking:
• “Lack of central coherence”
• On some psychologic tests, they pay more attention to specific
details, while overlooking the entire gestalt of the object.

• DIAGNOSIS.
• Physical examination.
• Head circumference.
• 25% of ASD have macrocephaly, but may not be apparent until after
2nd yrs age.
• In the absence of dysmorphic features or focal neurologic signs,
additional neuroimaging for investigation of the macrocephaly is not
indicated.
• Audiologic evaluation;
• Speech and language evaluation;

• DIAGNOSIS.
• Look for other physical stigmata.
• Examination of skin with a Wood lamp for hypopigmented lesions of
Tuberous sclerosis.
• Look for dysmorphic features of
-Fragile X syndrome (long face, large ears, large testes)
-Angelman syndrome (ataxic gait, broad mouth)

• DIAGNOSIS.
• Check Lead level if child shows pica etc.
• Chromosomal analysis if child has mental retardation / dysmorphic
features;
• EEG in developmental regression or seizures.

Autism diagnosis

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Autism diagnosis