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Autism and early diagnosis (red flags)
The document discusses the early diagnosis of autism spectrum disorder (ASD), outlining essential red flags for identifying the condition in children, including social, communication, and behavioral milestones. It emphasizes the importance of early intervention, noting that intensive behavioral modifications can significantly improve outcomes for those diagnosed early. Additionally, the document addresses misconceptions regarding treatment and highlights genetic factors associated with autism risk.
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Autism and early diagnosis (red flags)
- 1. AUTISM :AUTISM :REDRED FLAGSFLAGS FORFOR EARLY DIAGNOSISEARLY DIAGNOSIS PROF DR HUSSEIN ABDELDAYEM MEMBER OF AAN, AAP, ICNA FACULTY OF MEDICINE, ALEX
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- 4. DSM-5 Field TrialProfessional 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 disorderterm But ASDSEVERE MILDCARS 60-30/ 29-16/ 15 AND LESS
- 6. Autism Spectrum DisorderAutismSpectrum 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 ASDDiagnosisof 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
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- 15. The Molecular Puzzleof 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 TOCURE AUTISM?
- 19. Translational neurobiology inShank 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 TREATMENTOF 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 wasconsidered 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 LITERATURESAYS 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 INTENSEREHABILITATION CHILDREN WITH HIGH RISK FOR DEVELOPING ASD DON’T DEVELOP IT .
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- 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 ratein monozygotic twins Increased incidence in siblings Candidate genes : 3-7 genes identified in family studies
- 27. Is there anincreased 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%.
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- 33. OUR ROLE 1-early diagnose 2- full assessment 3- explain , support 4- progress , not regress
- 34. Early Identification 1. Whywe 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 childrenare normal in appearance
- 36. Early Identification 1. Whywe 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 FIRSTCONCERN Language Social behavior Emotional General delay
- 38. ? PARENT FIRSTCONCERN LANGUAGE √ Social behavior Emotional General delay
- 39. ? PARENT FIRSTCONCERN 6 mo 12 mo 18 mo 24 mo
- 40. ? PARENT FIRSTCONCERN 6 mo 12 mo 18 mo √ 24 mo
- 41. Early Identification VARY FROMCHILD TO CHILD Age Delayed onset of LANGUAGE usually first parent concern ( 18 mo.) SEVERITY COGNITIVE FUNCTION
- 42. Early Identification how todo it? Parent observation Direct observation Video-tape Professional multi-setting Assessment
- 43. Milestones : 6 -8moAttend 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 , 24mo 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 forearly 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 redflags less: functional play, especially with dolls/cars less: imaginative play possibly: repetitive motor behaviors Unusual : visual interests
- 52. red flags Less specific repetitivebehavior Possibly, reliable social and communication abnormalities (difficult)
- 53. Emerging symptoms ofAutism 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 withautism 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 withautism 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 evaluationObserveObserve 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 forAutism in Toddlers a quick screen for referral - 9 questions for parents - 5 observations by pediatrician at 18 mo checkup
- 62. Pediatrician CHAT Probes Does thechild: 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 All5 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 yourchild: 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?
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- 69. Level two: Diagnosisand evaluation of autism 1-formal Diagnostic procedures 2- developmental profile 3- specific language assessment
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- 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 forAutism (+/-) 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 forAutism Young children - serum AA - urine organic acids - pyruvate, lactate - karyotype with fragile X Older children: - karyotype with fragile X MRI
- 75. When and whatlaboratory 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 Currentmethods of screening for autism may not identify: 1) children with milder variants of the disorder 2) parent denial .
- 77. Summary : Redflags
- 78. please refer Notrespond 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
Editor's Notes
- #7 NON VERBAL COMMUNICATION
- #11 MALE TO FEMALE 4:1
- #12 Adult ASD
- #22 MUCH PROGRESS HAS BEEN MADE IN THE PAST 10 YEARS IN THE TREATMENT OF ASD, A NEURODEVELOPMENTAL DISORDER DEFINED BY DSM5 AS DEFICIT IN SOCIAL COMMUNICATION AND THE PRESENCE OF REPETITIVE BEHAVIORS AND/OR INTERESTS
- #61 Also, during screening, check body features. Head circumference may be elongated, but this is usually only in a subset of kids. It may be pronounced in first few years of life and may resolve by adolescence. The Palmer crease is a single line across the palms which is seen specifically in autistic children.