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Autism
AUTISM
By:
Dr Inayat Ullah
Resident Pediatric Medicine
Shifa International Hospital Islamabad.
OUTLINES
 DEFINITION
 CLASSIFICATION
 SCREENING/CASE FINDING
 ASSOCIATED SYNDROMES
 MANAGEMENT
 PHARMACOTHERAPY
 AUTISM IN PAKISTAN.
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.
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
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.
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.
Autism
Autism
Autism
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.
All I can do
is be me!
ASD Etiology
 Mainly genetic in origin, and genetic
mechanisms are complex
 Environmental factors may modulate
phenotypic expression. Probably during
fetal brain development.
 Implicated genetic sites on chromosomes
2, 3, 6, 7, 13, 15, 16, 17, 22
Autism Spectrum Disorder(ASD)
 Autistic Disorder
 Childhood Disintegrative Disorder
 Rett’s Disorder
 Asperger Syndrome
 Pervasive Developmental Disorder
Autistic Disorder
 There is substantial delay in
communication and social interaction
associated with development of "restricted,
repetitive and stereotyped" behavior,
interests, and activities
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.
Rett's Disorder
 Children develop normally at first, but their
head growth slows.
 There is also psychomotor retardation and
impairment of language development.
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.
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.
SCREENING.
 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)
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.
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
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
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.
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.
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.
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
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
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
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
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
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
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
Autism
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
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
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
Autism
Autism
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
Goals of Treatment
 Minimize core features
 Maximize functional independence
 Maximize quality of life
 Maximize family function
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.
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
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
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
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
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
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
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
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
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
Autism
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
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.
Autism in
Pakistan
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.
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
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.
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).
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.
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.
Some Useful Links (Pakistan)
http://www.actcommunity.net/
http://autismsolutions.info/
http://maayesha.com/
http://autism.meetup.com/77/
http://www.autism-pakistan.org/
http://www.shelfari.com/o1518103380/shelf#firstBook=0&list=2&
sort=dateadded
Useful links (International)
TEACCH: www.teacch.com
FSN (Family Support Network) http://fsnnc.med.unc.edu
www.firstsigns.org
www.aap.org
www.cdc.gov/ncbddd/autism/screening
www.cdc.gov/ncbddd/autism/actearly
www.nichd.nih.gov/autism
www.ibis-network.org
www.autismspeaks.org
Autism

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Autism

  • 2. AUTISM By: Dr Inayat Ullah Resident Pediatric Medicine Shifa International Hospital Islamabad.
  • 3. OUTLINES  DEFINITION  CLASSIFICATION  SCREENING/CASE FINDING  ASSOCIATED SYNDROMES  MANAGEMENT  PHARMACOTHERAPY  AUTISM IN PAKISTAN.
  • 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.
  • 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.
  • 12. All I can do is be me!
  • 13. ASD Etiology  Mainly genetic in origin, and genetic mechanisms are complex  Environmental factors may modulate phenotypic expression. Probably during fetal brain development.  Implicated genetic sites on chromosomes 2, 3, 6, 7, 13, 15, 16, 17, 22
  • 14. Autism Spectrum Disorder(ASD)  Autistic Disorder  Childhood Disintegrative Disorder  Rett’s Disorder  Asperger Syndrome  Pervasive Developmental Disorder
  • 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
  • 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
  • 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
  • 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.
  • 63. Some Useful Links (Pakistan) http://www.actcommunity.net/ http://autismsolutions.info/ http://maayesha.com/ http://autism.meetup.com/77/ http://www.autism-pakistan.org/ http://www.shelfari.com/o1518103380/shelf#firstBook=0&list=2& sort=dateadded
  • 64. Useful links (International) TEACCH: www.teacch.com FSN (Family Support Network) http://fsnnc.med.unc.edu www.firstsigns.org www.aap.org www.cdc.gov/ncbddd/autism/screening www.cdc.gov/ncbddd/autism/actearly www.nichd.nih.gov/autism www.ibis-network.org www.autismspeaks.org