AUTISM

By:Dr Inayat UllahResident 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.

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

SNO

2. Does your child take an interest in other children? YES

NO

3. Does you child like climbing on things, such as up stairs? YES

NO

4. Does your child enjoy playing peek-a-boo / hide-and-seek? YES

NO

5. Does your child ever pretend, for example, to talk on the phone, take care of dolls or pretend other things?

YES

NO

6. Does your child ever use his/her index finger to point, to ask for something? YES

NO

7. Does your child ever use his/her index finger to point, indicate interest in something? YES

NO

8. Can your child play properly with small toys (e.g.: cars or blocks) without just mouthing, fiddling, or dropping them?

YES

NO

9. Does your child ever bring objects over to you (parent), to SHOW you something? YES

NO

10. Does your child ever look you in the eye for more than a second or two? YES

NO

11. Does your child ever seem over sensitive to noise? (e.g. plugging ears)? YES

NO

12. Does your child smile in response to your face or your smile? YES

NO

13. Does your child imitate you? (e.g. you make a face-will your child imitate it?)? YES

NO

14. Does your child respond to his/her name when you call? YES

NO

15. If you point at a toy across the room, does your child look at it? YES

NO

16. Does your child walk? YES

NO

17. Does your child look at things you are looking at? YES

NO

18. Does your child make unusual finger movements near his/hear face? YES

NO

19. Does your child try to attract your attention to his/her own activity? YES

NO

20. Have you ever wondered if your child is deaf? YES

NO

21. Does your child understand what people say? YES

NO

22. Does your child sometimes stare at nothing or wander with nor purpose? YES

NO

23. Does your child look at your face to check your reaction when faced with something unfamiliar?

YES

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

SNO

2. Does your child take an interest in other children? YES

NO

3. Does you child like climbing on things, such as up stairs? YES

NO

4. Does your child enjoy playing peek-a-boo / hide-and-seek? YES

NO

5. Does your child ever pretend, for example, to talk on the phone, take care of dolls or pretend other things?

YES

NO

6. Does your child ever use his/her index finger to point, to ask for something? YES

NO

7. Does your child ever use his/her index finger to point, indicate interest in something? YES

NO

8. Can your child play properly with small toys (e.g.: cars or blocks) without just mouthing, fiddling, or dropping them?

YES

NO

9. Does your child ever bring objects over to you (parent), to SHOW you something? YES

NO

10. Does your child ever look you in the eye for more than a second or two? YES

NO

11. Does your child ever seem over sensitive to noise? (e.g. plugging ears)? YES

NO

12. Does your child smile in response to your face or your smile? YES

NO

13. Does your child imitate you? (e.g. you make a face-will your child imitate it?)? YES

NO

14. Does your child respond to his/her name when you call? YES

NO

15. If you point at a toy across the room, does your child look at it? YES

NO

16. Does your child walk? YES

NO

17. Does your child look at things you are looking at? YES

NO

18. Does your child make unusual finger movements near his/hear face? YES

NO

19. Does your child try to attract your attention to his/her own activity? YES

NO

20. Have you ever wondered if your child is deaf? YES

NO

21. Does your child understand what people say? YES

NO

22. Does your child sometimes stare at nothing or wander with nor purpose? YES

NO

23. Does your child look at your face to check your reaction when faced with something unfamiliar?

YES

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

DoesSurveillance DemonstrateRisk?

Is this a 9-, 18-,or 30-month* visit?

Schedule NextRoutine Visit

Visit Complete

Administer Screening Tool Are the Screening

Tool Results Positive / Concerning

Schedule EarlyReturn Visit

Visit Complete

AdministerScreening Tool

Make Referrals for:

Developmental andMedical Evaluations&Early DevelopmentalInterventions / EarlyChildhood Services

DevelopmentalMedical Evaluations

Identify as a Child with Special Health Care Needs

Initiate Chronic Condition Management

Perform Surveillance

Visit Complete

Is aDevelopmentalDisorderIdentified?

Visit Complete

Are the ScreeningTool Results Positive / Concerning

1

2

3

4

5a

5b

6a

6b

7

8

910

YES

YES

YES

YES

YES

NO

NONO

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-140-50 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

Associated Gene(s)

Patients With Syndrome Who Have Autism, %

Patients With Autism Who Have Syndrome, %

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, microcephaly

MECP2 All females, but with DSMV will be considered separate disorder

Rrae EEG, MECP2 gene testing

DSM–V WorkgroupSeverity Level for ASD

SocialCommunication

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

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 symptomsII. 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 effectsIII. 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

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 Karachi.

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). 6. Provision of structured home based programs for the children.

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.eduwww.firstsigns.org www.aap.orgwww.cdc.gov/ncbddd/autism/screeningwww.cdc.gov/ncbddd/autism/actearlywww.nichd.nih.gov/autism www.ibis-network.orgwww.autismspeaks.org

Thank you