AUTISM : AUTISM : RED RED FLAGS FLAGS FORFOR

EARLY DIAGNOSIS EARLY DIAGNOSISPROF DR HUSSEIN ABDELDAYEM

MEMBER OF AAN, AAP, ICNA

FACULTY OF MEDICINE, ALEX

19942013

DSM-5 Field Trial Professional Volunteers .From Darrel A. Regier, M.D.To husseindayem@hotmail.com Thank you for participating in the DSM-5 Field Trials in Routine Clinical

Practice Settings! This important part of the DSM-5 Field Trials will test the feasibility and clinical utility of the proposed diagnostic criteria and measures for routine practices. 

DSM-V

No pervasive developmental disorder term

But

ASDSEVERE MILDCARS60-30/29-16/

15 AND LESS

Autism Spectrum DisorderAutism Spectrum Disorder

They are defined as a group of biologically based neurodevelopment disorders that

share two common areas of concern

in social interactions

Restricted and repetitive interests or

behaviors

Qualitative impairments in

communication &

Diagnosis of ASDDiagnosis of ASD

In DSM-IV-TR and ICD-10 diagnosis has been based on deficits in three core domains: (1)social impairments, (2) communication difficulties, and (3) stereotyped and repetitive behaviours

In DSM-5 (and the proposed ICD-11 criteria) diagnosis is based on deficits in two core dimensions: 1.Social-communication difficulties2.Repetitive behavior

ASD

ASD

1/60 (2016)

EGYPT 2015

The Molecular Puzzle of Autism:

Genetic Factors

Environmental Factors

thimerosal is safe

the latest study joins a growing body of literature that shows thimerosal is safe and causes no long-term negative effects on children's health

IS IT POSSIBLE TO CURE AUTISM?

� Translational neurobiology in Shank mutants - mouse models for ASD – Michael Schmeisser (Ulm University, Germany) � Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy – Gaia Novarino (IST, Vienna, Austria) � Autism Spectrum Disorder with or without epilepsy: comparative study of 207 patients – Benedetta Berlese (A.O.U. Verona, Italy) � OSHA protocol for treating autistic children – Hussein Abdeldayem (Alexandria University, Egypt) � Very early parents mediated intervention in TSC infants at risk for Autism – Arianna Benvenuto (Tor Vergata University, Roma, Italy) � Autism Spectrum Disorder associated with Tourette Syndrome: Ariprazole treatment – Leonardo Zoccante (A.O.U. Verona)

ICNAAmsterdam 2016

IPSCSouth Africa 2013

                                  

ICNC 2016 Satellite Symposium

Is Autism a treatable disorder ?

April 29th, 2016Roma (Italy)

RULES FOR TREATMENT OF ASD

PHARMACOLOGICAL DRUGS HAVE NO ROLE IN TREATING OF ASD BUT OF NON SPECIFIC/ SYMPTOMATIC TREATMENT

INTENSIVE BEHAVIOR MODIFICATION SESSIONS OF AT LEAST 25 HOURS PER WEEK IS THE IDEAL TREATMENT NOWADAYS

Autism was considered as disorder without hope, but now it is recognized as treatable for many patients especially who are diagnosed early and receive ,,,,,,

INTENSIVE BEHAVIOR INTERVENTIONS

MEDICAL LITERATURE SAYS NO, BUT NOWADAYS WITH

ADEQUATE INTENSIVE REHABILITATION

SESSIONS

THE IMPROVEMENT CAN BE SO GREAT THAT IT COULD

JUSTIFY THE USAGE OF THE WORD

TREATED > CURE

SOMETIMES

WITH ADEQUATE INTENSE REHABILITATION

CHILDREN WITH HIGH RISK FOR DEVELOPING ASD

DON’T DEVELOP IT .

(Who?)

If your patient /child is

at risk for developing

or

already with ASD ,

and if you are willing to put effort in helping him,,

attend my presentation thoroughly

Genetics __________

High concordance rate in monozygotic twins

Increased incidence in siblings

Candidate genes : 3-7 genes identified in family studies

Is there an increased risk of having another child with autism (recurrence)?

The incidence of autism in the general population is 0.2-1%, but the risk of having a second (or additional) autistic child increases almost 50-fold to approximately 10 to 20%.

Tuberous sclerosis with ASD

OUR ROLE

1- early diagnose

2- full assessment

3- explain , support

4- progress , not regress

Early Identif ication

1. Why we should identify autism at young age?

2. Can we identify accurately autism at young ages?

3. How we go about identifying autism at young ages?

Problem

Autistic children are normal in appearance

Early Identif ication

1. Why we should identify autism at young age?

2. Can we identify accurately autism at young ages?

3. How we go about identifying autism at young ages?

? PARENT FIRST CONCERN

Language

Social

behavior

Emotional

General delay

? PARENT FIRST CONCERN

LANGUAGE √

Social

behavior

Emotional

General delay

? PARENT FIRST CONCERN

6 mo

12 mo

18 mo

24 mo

? PARENT FIRST CONCERN

6 mo

12 mo

18 mo √

24 mo

Early Identif icationVARY FROM CHILD

TO CHILD Age

Delayed onset of LANGUAGE usually first parent concern ( 18 mo.)

SEVERITY

COGNITIVE FUNCTION

Early Identif icationhow to do it?

Parent observation

Direct observation

Video-tape

Professional multi-setting Assessment

Milestones :

6 -8mo Attend to human voice

Show interest in faces

Reciprocal social smile

Coo or babble

Milestones : 9 – 12 mo

Exchange back- & -forth sounds , looks

Respond to pointing / showing gestures

Play peak -a- boo and other social games

Orient to name Bable in consonant –

vowel combinations

Milestones : 12 – 15 mo

Use gestures and sounds to set needs met

Show objects & share interest with others

Use a few words

Show interest in other children

Milestones , 24 mo

Use lots of gestures Use at least 30-40 words 2 words sentences Perform simple pretend

acts Imitates others Enjoying being with

other children

Language red flagsNo : bubbling,

No : pointing by 9 mo,

No : other gestures by 12 mo

No: single words by 16 mo

No : spontaneous two words by 24 mo

Or

Loss of language skills at any age

Communication red flags

less : communication to direct

person’s attention

less: use of gestures to communicate

less : use of eye to eye contact to communicate

Inconsistent response to sounds (name)

Simple test for early screening autism

Infants who don't respond to their name by 1 year of age appear to be more likely to be diagnosed with an autism spectrum disorder or other developmental problem by the age of 2.

University of California Davis M.I.N.D. Institute, USA2007

social red flags

less : response to social overtures

less: participation in Peek-a-Boo play

less : “showing off ” for attention

less : imitation of the actions of the others

less : interest in other children

Restricted Activities/ interests red flags

less : functional play, especially

with dolls/cars

less: imaginative play

possibly : repetitive motor behaviors

Unusual : visual interests

red flags

Less specific

repetitive behavior

Possibly, reliable social and communication abnormalities

(difficult)

Emerging symptoms of Autism

Deficits shown to be present prior to 1 year of age: Detection of eye-gaze

direction Joint attention: point to show

vs. pointing to indicate own need, focusing on object pointed vs. on finger pointing

Imitation of agentive actions Can imitate object actions but

not person actions

OUR ROLE

1- early diagnose

2- full assessment

3- explain , support

4- progress , not regress

Clinically identifying children with autism

Level one

Routine Developmental Surveillance and Screening Specifically for Autism

• Should be performed on all children.

• Involves first identifying those at risk for any type of atypical development, followed by identifying those specifically at risk for autism.

Clinically identifying children with autism

Level Two

Professional Diagnosis and Evaluation of Autism

Involves a more in-depth investigation of already identified children and differentiates autism from other developmental disorders.

Level one of evaluation

ObserveObserve

ListenListen

M-CHATM-CHAT

Level one evidence-base recommendations

1. Observe the child in the clinic: social, communication, behavior

2. Listen to parents , both separately.

3. M- CHAT questionnaire

Further professional Further investigation

Assessment:

Physical Exam Screening

Body Features

Head Features

Elongated circumference

Palmer Crease

Single line across palms seen specifically in autistic children

Body Movement

Choreoathetotic movements

Stereotypies

Motor tics

Hand Flapping

Spinning

CHAT Diagnostic Screen

Checklist for Autism in Toddlers

a quick screen for referral

- 9 questions for parents

- 5 observations by pediatrician at 18 mo checkup

Pediatrician CHAT Probes

Does the child: Make eye contact? Look at object to which you point excitedly? Pretend together? Point, looking at your face, to object requested? Build a tower of bricks?

Scoring CHAT Screen All 5 key items positive: high risk

Lack of pointing per parents and doctors: medium risk

If screen is failed, repeat in 1 month If failed again, refer for comprehensive

assessment -

Parent CHAT Questions

Does your child: Enjoy being bounced on your knee? Have interest in other children? Like climbing? Like playing peek-a-boo? Point to ask for something? Point to show interest? Plays with toys as toys? Brings objects to show you?

Scoring M-CHAT Screen

Level two: Diagnosis and evaluation of autism

1-formal Diagnostic procedures

2- developmental profile

3- specific language assessment

Formal diagnosis

Language skills : especially expressive, receptive is on and off

motor deficits Impairments of gross and fine motor function are common in autistic individuals

Cognitive skills Social skills/behavior

assessment

Work Up for Autism (+/- ) BERA EEG and brain mapping. MRI

Genetic consult if syndrome suspected Lead level if high risk or with pica Blood sensitivity for casein and gluten

Work Up for Autism Young children - serum AA - urine organic acids - pyruvate, lactate - karyotype with fragile X Older children: - karyotype with fragile X MRI

When and what laboratory investigations are indicated for the diagnosis of autism? (continued)

Other tests There is insufficient evidence to support the use of other tests such as: hair analysis for trace

elements celiac antibodies allergy testing (particularly

food allergies for gluten, casein, candida, and other molds)

immunologic or neurochemical abnormalities

micronutrients such as vitamin levels

intestinal permeability studies

stool analysis urinary peptides mitochondrial disorders

(including lactate and pyruvate)

thyroid function tests erythrocyte glutathione

peroxidase studies

difficulty for diagnosis

Current methods of screening for autism may not identify:

1) children with milder variants of the disorder

2) parent denial .

Summary : Red flags

please refer Not respond to name by 12 months age Avoid eye to eye contact Does not share interests with others (children /adults) Has flat or inappropriate facial expressions Failure to point or respond to pointing Avoid or resist physical contact Is not comforted by others during distress Use few or no gestures e.g., does not wave good bye Appears not to listen to others’ speech NO single words by 16 mo or 2 simple sentences by 24 mo Use words in idiosyncratic ways ( classic Arabic, incoherent) Any loss of language or social skills at any age Gives unrelated answers to questions