4. Definition
A disorder in which
There is substantial delay in
communication and social interaction
associated with development of "restricted,
repetitive and stereotyped" behavior,
interests, and activities.
5. Autism is a developmental disorder that appears in the first
3 years of life, and affects the brain's normal
development of social and communication skills.
By: Brittany Allen
6. What Is Autism?
The so-called ‘triad of impairment’ summarises the
difficulties of the autistic child but the actual
manifestation of these can vary.
Restricted, repetitive and
stereotyped patterns of
behaviour.
Impairment
in social interaction.
Impairment in verbal
and non verbal
communication.
7. Early signs of Autism
o Delayed or lack of
speech.
o Repetitive movement
of body such as
Arms, and head.
o Impaired social skills.
o Less Interest in
activities or play.
o Seldom eye contact
with others.
8.
9.
10.
11. Children and Autism
o Autism affects boys 3-
4 times more than
girls.
o Family income,
education, and
lifestyle don't seem to
effect the risk of
autism.
o Exact number of
children living with
autism is not known.
15. Autistic Disorder
There is substantial delay in
communication and social interaction
associated with development of "restricted,
repetitive and stereotyped" behavior,
interests, and activities
16. Childhood Disintegrative Disorder
Children develop normally for the first two
years of life, but then lose skills in areas
such as language, play, and bowel control.
Children manifest impaired social
interaction and communication associated
with "restrictive, repetitive, stereotyped"
behaviors.
17. Rett's Disorder
Children develop normally at first, but their
head growth slows.
There is also psychomotor retardation and
impairment of language development.
18. Asperger's Disorder (AD)
Language, curiosity, and cognitive
development proceed normally while there is
substantial delay in social interaction and
"development of restricted, repetitive
patterns of behavior, interests, and activities.
19. Pervasive Developmental Disorder – Not
Otherwise Specified (PDD-NOS)
Often referred to as atypical autism
Used when a child does not meet the criteria for
a specific diagnosis, but there is severe and
pervasive impairment in specified behaviors
All the above mentioned categories are now
subcategorized as a part of Autism Spectrum
Disorder ASD in DSM-V.
21. Well-child visits for ALL children should include:
Developmental Screening
Use of a validated screening tool at
9, 18, 24 or 30 months
ASD-specific screening
18 and 24 or 30 months
If concern identified:
1. Refer for intervention
2. Refer for evaluation
AAP Policy Statement (2006)
22. Surveillance
Surveillance factors
Sibling with ASD
Parent concern, inconsistent hearing,
unusual responsiveness
Other caregiver concern
Pediatrician concern If 2 or more, refer for
ASD Evaluation, and Audiology
simultaneously.
23. Modified Checklist for Autism in Toddlers
(M-CHAT)
23 yes-no questions
Measures social reciprocity, language,
some motor
18 months to 4 years of age
Detects ASD, language impairment, MR
Available in over 20 languages
24. M-CHAT and Autism screening
Failing score if 2 or more critical items or
any 3 items are failed
Free download at firstsigns.org
2 page scoring guide
Takes 5 minutes to complete, 1-5 to score
Autism screen recommended by AAP
Autism Expert Panel for use at 18-24
month well-child visit
25. M-CHAT (18-30 months)
1. Does your child enjoy being swung, bounced on your knee, etc.? YE
S
NO
2. Does your child take an interest in other children? YE
S
NO
3. Does you child like climbing on things, such as up stairs? YE
S
NO
4. Does your child enjoy playing peek-a-boo / hide-and-seek? YE
S
NO
5. Does your child ever pretend, for example, to talk on the phone, take care of dolls or pretend other things? YE
S
NO
6. Does your child ever use his/her index finger to point, to ask for something? YE
S
NO
7. Does your child ever use his/her index finger to point, indicate interest in something? YE
S
NO
8. Can your child play properly with small toys (e.g.: cars or blocks) without just mouthing, fiddling, or dropping them? YE
S
NO
9. Does your child ever bring objects over to you (parent), to SHOW you something? YE
S
NO
10. Does your child ever look you in the eye for more than a second or two? YE
S
NO
11. Does your child ever seem over sensitive to noise? (e.g. plugging ears)? YE
S
NO
12. Does your child smile in response to your face or your smile? YE
S
NO
13. Does your child imitate you? (e.g. you make a face-will your child imitate it?)? YE
S
NO
14. Does your child respond to his/her name when you call? YE
S
NO
15. If you point at a toy across the room, does your child look at it? YE
S
NO
16. Does your child walk? YE
S
NO
Please fill out the following about how your child usually is. Please try to answer every question. If the behavior
is rare (e.g. you’ve only seen it once or twice), please answer as if the child does not do it.
26. M-CHAT (18-30 months)
1. Does your child enjoy being swung, bounced on your knee, etc.? YE
S
NO
2. Does your child take an interest in other children? YE
S
NO
3. Does you child like climbing on things, such as up stairs? YE
S
NO
4. Does your child enjoy playing peek-a-boo / hide-and-seek? YE
S
NO
5. Does your child ever pretend, for example, to talk on the phone, take care of dolls or pretend other things? YE
S
NO
6. Does your child ever use his/her index finger to point, to ask for something? YE
S
NO
7. Does your child ever use his/her index finger to point, indicate interest in something? YE
S
NO
8. Can your child play properly with small toys (e.g.: cars or blocks) without just mouthing, fiddling, or dropping them? YE
S
NO
9. Does your child ever bring objects over to you (parent), to SHOW you something? YE
S
NO
10. Does your child ever look you in the eye for more than a second or two? YE
S
NO
11. Does your child ever seem over sensitive to noise? (e.g. plugging ears)? YE
S
NO
12. Does your child smile in response to your face or your smile? YE
S
NO
13. Does your child imitate you? (e.g. you make a face-will your child imitate it?)? YE
S
NO
14. Does your child respond to his/her name when you call? YE
S
NO
15. If you point at a toy across the room, does your child look at it? YE
S
NO
16. Does your child walk? YE
S
NO
Please fill out the following about how your child usually is. Please try to answer every question. If the behavior
is rare (e.g. you’ve only seen it once or twice), please answer as if the child does not do it.
27. M-CHAT (18-30 months)
“AT RISK” NEEDS FURTHER
EVALUATION IF: FAILS 2 CRITICAL
ITEMS OR ANY 3 ITEMS.
Robins, D., Fein, D., Barton, M., & Green, J. (2001). The Modified Checklist for
Autism in Toddlers: An initial study investigating the early detection of autism and
pervasive developmental disorders. Journal of Autism and Developmental Disorders,
31 (2), 131-144.
28. Legend
= Start
= Action/Process
= Decision
= Stop
Increasing Developmental Concern
Pediatric Patient at
Preventive Care Visit
Perform
Surveillance
Does
Surveillance Demonstrate
Risk?
Is this a 9-, 18-,
or 30-month* visit?
Schedule Next
Routine Visit
Visit
Complete
Administer
Screening Tool
Are the Screening
Tool Results Positive /
Concerning
Schedule Early
Return Visit
Visit
Complete
Administer
Screening Tool
Make Referrals for:
Developmental and
Medical Evaluations
&
Early Developmental
Interventions / Early
Childhood Services
Developmental
Medical Evaluations
Identify as a Child with
Special Health Care Need
Initiate Chronic
Condition Management
Perform
Surveillance
Visit
Complete
Is a
Developmental
Disorder
Identified?
Visit
Complete
Are the Screening
Tool Results Positive /
Concerning
1
2
3
4
5a
5b
6a
6b
7
8
9
10
YES
YES
YES
YES
YES
NO
NO
NO
NO
Related Evaluation
and Follow Up Visit
DEVELOPMENTAL SURVEILLANCE AND SCREENING PATHWAY
NO
29. Medical & Genetic evaluation of
ASD
Recommended evaluations
Careful physical examination to identify
dysmorphic physical feature
Macrocephaly
Wood’s lamp examination for tuberous
sclerosis
Formal audiologic evaluation
Lead test; repeat periodically in children
with pica Chromosomal microarray
30. Medical & Genetic evaluation of
ASD (Cont’d)
Consider if results of above evaluation
are normal and if accompanying
intellectual impairment
FISH test for region 15q11q13 to rule out
duplications in PraderWilli/Angelman
syndrome
(FISH) test for telomeric abnormalities
Test for mutations in MECP2 gene (Rett
syndrome) in females
DNA testing for fragile X syndrome
31. Medical & Genetic evaluation of
ASD (Cont’d) Metabolic testing
Done in case of (emesis, hypotonia, lethargy,
ataxia, coarse facial features of a storage
disease, multiple organs involved)
FBS, Plasma amino acids NH3 and lactate
Fatty acid profile, Carnitine Acylcarnitine,
quantitative Homocysteine Urine amino acids
Urine organic acids Urine purine/pyrimidines
Urine acylglycine, random Plasma 7-
dehydrocholesterol (Smith-Lemli-Opitz disease
screening
32. Medical & Genetic evaluation of
ASD (Cont’d)
Medical testing to consider based
on clinical features
Complete blood cell count
Liver enzymes
Biotinidase T4, TSH
Ceruloplasmin/serum copper
EEG in case ofClinically observable
seizures History of significant regression in
social or communication functioning
33. Syndromes associated with Autism.
Autism-Related
Syndrome
Physical
Examination
and/or History
Findings
Associated
Gene(s)
Patients With
Syndrome Who
Have Autism, %
Patients With
Autism Who Have
Syndrome, %
Testing to
Consider
Tuberous sclerosis Ash leaf spots,
adenoma
sebaceum,
shagreen patches,
tubers, seizures,
and intellectual
disability
TSC1 and TSC2 20-40 1 MRI,
ophthalmology,
cardiac and renal
evaluation
Neurofibromatosis 2 criteria of the
following: 6 cafe ´
au lait spots, ‡2
neurofibromas or 1
plexiform, axillary
or inguinal
freckling, optic
glioma, ‡2 Lisch
nodules, sphenoid
dysplasia or tibial
pseudoarthrosis,
first-degree relative
with neurofibroma
type 1
NF-1
40-50 in some studies
0.3 Ophthalmology
consultation, MRI,
spinal examination
for scoliosis,
cardiac for
murmurs, and
blood pressure for
hypertension
34. Syndromes associated with Autism.
Autism-
Related
Syndrome
Physical Examination and/or
History Findings
Associate
d Gene(s)
Patients With Syndrome
Who Have Autism, %
Patients
With
Autism
Who
Have
Syndro
me, %
Testing to
Consider
Angelman
syndrome
Language and Intellectual
deficits, seizures, hypermotoric
and ataxic movements,
paroxysms of laughter, and
happy disposition
UBE3A 50 Rare FISH or microarray
testing for 15q11.2-
q13, EEG, MRI
Fragile X
syndrome
Inconsistent physical
examination findings,
microcephaly and
macrocephaly, large jaw, large
hands, macro-orchidism
FMR1 25 (males) and 6 (females) 1-2 Fragile X testing
looking for CGG
repeats >200
Rett syndrome Regression in development,
hand-wringing behavior, female,
MECP2 All females, but with DSMV
will be considered separate
Rrae EEG, MECP2 gene
testing
35.
36. DSM–V WorkgroupSeverity Level for
ASD
Social
Communication
Restricted Interests
and Repetitive
Behaviors
Level 1
Requiring support
Without supports in place,
deficits in social
communication cause
noticeable impairments.
Has difficulty initiating
social interactions and
demonstrates clear
examples of atypical or
unsuccessful responses to
social overtures of others.
May appear to have
decreased interest in
social interactions.
Rituals and repetitive
behaviors (RRB’s) cause
significant interference
with functioning in one or
more contexts. Resists
attempts by others to
interrupt RRB’s or to be
redirected from fixated
interest.
Severity Levels-proposed
Jerri Maroney, Andrea Kliss, Edward Toyer, AmeriHealth Mercy Family of Companies
37. DSM–V WorkgroupSeverity Level for
ASD
Social
Communication
Restricted Interests
and Repetitive
Behaviors
Level 2
Requiring substantial
support
Marked deficits in verbal
and nonverbal social
communication skills;
social impairments
apparent even with
supports in place; limited
initiation of social
interactions and reduced
or abnormal response to
social overtures from
others.
Marked deficits in verbal
and nonverbal social
communication skills;
social impairments
apparent even with
supports in place; limited
initiation of social
interactions and reduced
or abnormal response to
social overtures from
others.
Jerri Maroney, Andrea Kliss, Edward Toyer, AmeriHealth Mercy Family of Companies
Severity Levels-proposed
38. Severity Level for
ASD
Social
Communication
Restricted Interests
and Repetitive
Behaviors
Level 3
Requiring very substantial
support
Severe deficits in verbal
and nonverbal social
communication skills
cause severe impairments
in functioning; very limited
initiation of social
interactions and minimal
response to social
overtures from others.
Preoccupations, fixated
rituals and/or repetitive
behaviors markedly
interfere with functioning in
all spheres. Marked
distress when rituals or
routines are interrupted;
very difficult to redirect
from fixated interest or
returns to it quickly.
Jerri Maroney, Andrea Kliss, Edward Toyer, AmeriHealth Mercy Family of Companies
Severity Levels-proposed
39.
40.
41. Referrals for positive M-CHAT
Evaluation and Diagnosis:
Also, if concern regarding global delays,
intellectual disability, or suspect Genetic or
neurologic disorder:
D&B Pediatrician/Geneticist/Neurologist
Early Intervention Services (Part C)
Audiologic Evaluation: Pediatric Audiologist
42. Goals of Treatment
Minimize core features
Maximize functional independence
Maximize quality of life
Maximize family function
43. Traetment is comprehensive
Intervention as soon as diagnosis
suspected; do not wait for definitive
diagnosis
25 hours per week, 12 months per year in
“systematically planned, developmentally
appropriate educational activities.”
Low student:teacher ratio.
Inclusive experience with typically
developing peers.
44. Educational Interventions are
Foundation of Treatment
Applied Behavioral Analysis
Structured teaching – TEACCH
Developmental
Relationship focused
Speech and Language Therapy, including use of
augmentative and alternative communication
Social Skills Instruction – joint attention
OT (Sensory Integration) Therapy – evidence
base not yet established
45. Common Behavioral Issues
Disruption/aggression 15-64%
Self-injurious 8-38%
Eating 25-52%
Sleeping 36%
Toileting 40%
Problems correlate with rigidity/restricted
interests/need for sameness
46. Behavioral treatment
Positive Behavioral Support
Proactive arrangement of the physical
environment to prevent occurrence of
problem behavior
Routine curriculum incorporates social skill
development
Functional behavioral analysis used for
individualized behavior management plans
47. Medical Management
Challenges in routine health care due to
difficulties with social interaction,
communication, and negotiating a new and
unfamiliar environment.
Average visit requires twice as much time
as for a child without an ASD.
Strategies in the office to promote
familiarity
48. Associated medical conditions
Gastrointestinal: chronic
constipation/diarrhea, recurrent abdominal
pain. Studies inconsistent, with rates of
9% to 70%
Seizures: 11 – 39%. More likely with
comorbid severe global delays and motor
deficits.
Sleep problems
49. Psychopharmacology
Goal is to minimize core symptoms and
associated behaviors, and facilitate interventions.
Be sure environmental and behavioral strategies
are in place
Pharmacotherapy is not the primary treatment
50. Psychopharma management cont’d
Consider psychotropic medication on the basis of
the presence of the following:
I. Target symptoms are interfering with learning or
academic progress, socialization, health or
safety (of the patient and/or others around him
or her), or quality of life
II. Suboptimal response to a behavioral
interventions and environmental modifications
III. Research evidence that the target behavioral
symptoms or coexisting psychiatric diagnoses
are amenable to pharmacologic intervention
51. Psychopharma management cont’d
Choose the medication on the basis of the
following:
I. Likely efficacy for the specific target symptoms
II. Potential adverse effects
III. Practical considerations, such as formulations
available, dosing schedule, and cost and
requirement for laboratory or
electrocardiographic monitoring
IV. Informed consent (verbal or written) from parent
or guardian and, when possible, assent from the
patient
52. Psychopharma management cont’d
Establish plan for monitoring of effects
I. Identify outcome measures
II. Discuss time course of expected effects
III. Arrange follow-up telephone contact,
completion of rating scales, reassessment of
behavioral data, and visits accordingly
IV. Outline a plan regarding what might be tried
next if there is a negative or suboptimal
response or to address additional target
symptoms
53.
54. Complementary Alternative Medicine
(CAM)
High use of CAM in ASD
Many of these therapies have not been rigorously
studied, and parents develops false hope.
Nutrition: Gluten free diet, B6 magnesium, vitamin
C, carnosine,
Immunomodulation: Abx probiotics, prebiotics
Detoxification: chelation
Manipulative and body based services: massage
Sensory integration therapy
Music and other expressive therapies
55. Clinician response to CAM
1. If a CAM therapy is safe and effective
then recommend.
2. If a CAM therapy is safe but
effectiveness is unknown then tolerate.
3. If a CAM therapy has a concern for
safety but is effective then monitor closely.
4. If a CAM therapy is unsafe and not
effective then advise against.
57. Some Facts
Autism Spectrum Disorder : 1:120 kids
No Diagnostic and Rehabilitative means even in the
major cities of Pakistan.
No understanding of early detection, sensory issues and
home based interventions by child care specialists.
Lack of awareness and means of Learning for the
Medical & Rehabilitation Teams
Lack of awareness and means of Learning for the
Special Education and support staff teams.
58. Autism Resource Center Karachi
@
Ma Ayesha Memorial Medical Center
Location Ma Ayesha Memorial Centre
SNPA-22,block 7/8 near commercial area
K.M.C.H.S off Tipu Sultan road, Karachi
021-4542685, 4541281
Autism Meetup Forum , June 2003.
Professional/paraprofessional Meetings, since July 2005
Workshops since October 2005
ARC Founded in July 2006
One on one counselling setup, Sept. 2007
Have proudly served parents from all corners of Pakistan via
forums and web.
By appointments locals and others who could travel to ARC
59. Services Provided
@ ARC Karachi
Open from 2pm to 4pm , everyday except Fridays .
One on one counselling by appointment, on Wednesdays only,
with Mrs. Irum Rizwan, the educational supervisor.
Parent, professionals group meetings once a month .
Teaching Workshops open to all interested 2-3 times a year,
in Karachi & Lahore since 2005 and at Rawalpindi and Quetta,
this year.
A Resource Library with books, display of sensory toys,
educational kits , CD rom and materials for an easy access
with minimal photocopying charges.
Professional paid consultations from the neurologist,
paediatricians, and therapists working at the adjoining
MAMC.
60. Autism Resource Center Islamabad
@ Step To Learn
489, Street # 106, I-8/4, Islamabad.
Tel: 0514446086, 03005131154.
Open five days a week from Monday to Friday, 8am-1pm and 5pm-
7pm.
Maj. Umair Director/ Educational Supervisor
Mrs. Aayesha Umair, Speech and Language Therapist
Mrs. Kiran Andleeb Tahir, Speech and Language Therapist
Services Provided:
1. Relevant books on the subject. (For reading and copying)
2. DVDs/CDs on the subject. (For reading and copying)
3. Meet ups. (Regularly on quarterly basis from Jan 2009, schedule
given from time to time)
4. Counselling and guidance of parents.
5. Facilities of speech, behaviour, occupational and sensory therapy
along with academic skills(paid).
61. Venue Requirements
for Establishing an ARC
Space for the Center : 2 medium sized rooms
* A Resource /Study Room and a Play/Work Room.
Materials: Books, Educational CDs , DVDs, Teaching kits, Sensory Kits.
Appliances : Computer with a Printer, Scanner, Photo copier, phone line,
Internet connection, TV, vhs/dvd player.
Furniture: Shelves, Filing cabinets, desk, table, chairs
Carpet, cushions, play/work tables cubicles.
Open for approx. 8 – 10 hours/ wk., some hours in the morning and some
in the evening/weekend.
62. Personnel Requirements
for the Center
* Trained Parent Workers for providing once a week support
services to other parents, teachers.
* A part time paid worker for the resource room management,
accounting and filing needs.
*Voluntary/ selected learners (2-3) from medical college students,
dept. of special education, therapists, like SLP, OT, PT. ,
psychologists.
* A half time paid worker, an educator or a therapist with good
computer skills and who has trained and learned for 6 months at
least and has proven enough skills.
