autism is a treatable disease nowadays, so early diagnosis can prevent or treat autism by intensive behavior modification setting . the aim of the lecture is to suggest red flags for early diagnosis of autism

1. AUTISM :AUTISM : REDRED
FLAGSFLAGS FORFOR
EARLY DIAGNOSISEARLY DIAGNOSIS
PROF DR HUSSEIN ABDELDAYEM
MEMBER OF AAN, AAP, ICNA
FACULTY OF MEDICINE, ALEX

3. 1994
2013

4. 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.

5. DSM-V
No pervasive developmental
disorder term
But
ASDSEVERE MILDCARS
60-30/
29-16/
15 AND LESS

6. 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 &

7. 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 difficulties
2.Repetitive behavior

10. ASD

11. ASD

13. 1/60 (2016)

14. EGYPT 2015

15. The Molecular Puzzle of Autism:
Genetic Factors
Environmental Factors

17. 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

18. IS IT POSSIBLE
TO CURE
AUTISM?

19. 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
ICNA
Amsterdam 2016
IPSC
South Africa 2013
ICNC 2016 Satellite Symposium
Is Autism a
treatable
disorder ?
April 29th
, 2016
Roma (Italy)

20. 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

21.  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

22.  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

23. SOMETIMES
WITH ADEQUATE INTENSE REHABILITATION
CHILDREN WITH HIGH RISK FOR DEVELOPING ASD
DON’T DEVELOP IT .

24. 
(Who?)

25. 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

26. Genetics
__________
 High concordance
rate in monozygotic
twins
 Increased
incidence in siblings
 Candidate genes :
3-7 genes identified
in family studies

27. 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%.

28. Tuberous sclerosis with ASD

33. OUR ROLE
 1- early diagnose
 2- full assessment
 3- explain , support
 4- progress , not regress

34. Early Identification
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?

35. Problem
 Autistic children are
normal in appearance

36. Early Identification
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?

37. ? PARENT FIRST CONCERN
 Language
 Social
 behavior
 Emotional
 General delay

38. ? PARENT FIRST CONCERN

LANGUAGE √
 Social
 behavior
 Emotional
 General delay

39. ? PARENT FIRST CONCERN
 6 mo
 12 mo
 18 mo
 24 mo

40. ? PARENT FIRST CONCERN
 6 mo
 12 mo

18 mo √
 24 mo

41. Early Identification
VARY FROM CHILD
TO CHILD Age
 Delayed onset of LANGUAGE usually first parent
concern ( 18 mo.)
 SEVERITY
 COGNITIVE FUNCTION

42. Early Identification
how to do it?
 Parent observation
 Direct observation
 Video-tape
 Professional multi-setting Assessment

43. Milestones :
6 -8mo Attend to human
voice
 Show interest in
faces
 Reciprocal social
smile
 Coo or babble

44. 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

45. 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

46. 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

47. Language red flags
No: 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

48. 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)

49. 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, USA
2007

50. 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

51. Restricted Activities/ interests
red flags
less: functional play, especially
with dolls/cars
less: imaginative play
possibly: repetitive motor behaviors
 Unusual : visual interests

52. red flags
Less specific
repetitive behavior
Possibly, reliable
social and communication abnormalities
(difficult)

53. 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

55. OUR ROLE
 1- early diagnose
 2- full assessment
 3- explain , support
 4- progress , not regress

56. 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.

57. 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.

58. Level one of
evaluation ObserveObserve
ListenListen
M-CHATM-CHAT

59. 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:

60. 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

61. 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

62. 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?

63. 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
-

64. 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?

66. Scoring M-CHAT Screen

69. Level two: Diagnosis and
evaluation of autism
1-formal Diagnostic
procedures
2- developmental
profile
3- specific language
assessment

70. Formal diagnosis

72.  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

73. 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

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

75. 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

76. difficulty for diagnosis
Current methods of screening for autism may
not identify:
 1) children with milder variants of the
disorder
 2) parent denial .

77. Summary : Red flags

78. 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