autism and early diagnosis (red flags)
TRANSCRIPT
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 [email protected] 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