AUTISM SPECTRUM DISORDERS.in.children.pptx

Autism disorder

1. AUTISM SPECTRUM DISORDER Presented by : DR. HEMANTH KUMAR (JR 2) Moderator: DR. NAVREET (AP)

2. CONTENTS Introduction Epidemiology Risk factors Clinical features Investigations Treatment Differential diagnosis Prognosis Refferences

3. INTRODUCTI ON O1

4. Term autism was used by psychiatrist Eugen bleuler in 1908 The Greek word autos meant self and word autism was used by bleuler to mean morbid self administration and “with drawl within self”

5. AUTISM SPECTRUM DISORDER Biologically based Neuro developmental disorder with early onset in childhood with core deficit in two domains 1)SOCIAL COMMUNICATION/INTERACTION. 2)RESTRICTIVE/REPETITIVE patterns of behaviour. No specific biomarker Arise from atypical brain development

6. AUTISM SPECTRUM DISORDER SECTRUM- not all are alike Each individual is affected in different ways Mild to severe symptoms often with overlapping comorbidities Changes with age Symptoms start around 1-2 years of age This is the age when social demands for peer to peer interaction & group participation are high.

7. EPIDEMIOLOGY 02

8. PREVALENCE Prevalence - 1 in 100 world wide 1 in 36 children as per CDC 2024 1 in 68 as per NCAI 3rd most common Developmental disorder . Over 18 million people have Autism in india. Boys >>>> girls Girls with ASD: lower IQ, more cognitive impairment,fewer stereotypes

9. E TIOLOGY 03

10. Risk factors Genetic Sibling recurrence rate : 19% Heterogenous condition-multiple genes identified Chromosome 7q(CADPS2gene) & chromosome 15 q abnormalities Fragile x ,Tuberous sclerosis,Neurofibromatosis Antenatal risk factors:prematurity,hypoxia,bleeding,maternal diabetes,neonatal encephalopathy Exposure to pesticides,thalidomide Advanced maternal age>30, paternal age >50

11. what happens in Autism ? EARLY ONSET IMPAIREMENT IN 3 CORE AREAS 1)RECIPROCAL SOCIAL INTERACTION 2)COMMUNICATION :VERBAL & NON VERBAL 3)PATTERNS OF INTERESTS AND ACTIVITIES

12. AUTISM Impairment in socialization impairement in communication Repetative behaviour-may appear late, may not be present throughout symptoms appear before 3years of age but may be obvious overtime when social demands exceeds limited capacities

13. DSM-V CRITERIA DOMAIN CRITERIA 1 Impairment in social interaction and communication subcriteria (impairment in all 3 required) a.social and emotional reciprocity b.non verbal communication c. creating and maintaining relationships 2 Abnormal and repetitive behaviour,interests and activities subcriteria(impairment in 2 of 4 required) a.stereotyped speech and behaviour b.resistance to change c.fixated interests d.hypersensitivity or hyposensitivity to sensory input 3 presentation in early childhood development 4 symptoms cause clinically significant impairement in social,occupational or other important areas of current functioning

14. Atypical features in development suggestive of ASD social interaction & reciprocal communication behaviours DELAYED Responding & interaction with others DELAYED Eye contact ,pointing & gestures DELAYED Unsual or restricted interest PRESENT Rigid & repetitive behaviours PRESENT stereotypes PRESENT sensory issues PRESENT SPEECH DELAY : is a NATURAL EFFECT.

15. CLINICAL PRESENTATION 04

16. RED FLAG SIGNS OF AUTISM Poor response to name call by one year of age No meaningful words by 18 months of age Doesn’t play with toys appropriately Fixed pattern of interest/activities Decreased interaction with peers/friends Has odd movement patterns &/or repetitive behaviours Demonstrates Echolilia Hyper active Toe walking

17. clinical features in TODDLER Speech delay: 18-24 months poor nonverbal skills: NO NODDING/NO POINTING POOR EYE CONTACT Atypical social interactions:aloof/not interested in others Using others hand to point/show things Not sharing interests Extremely upset by minor changes in routine Repetitive motor movements Distressed by day to day sound sensations

18. clinical features in SCHOOL going age speech may improve-but it will be NEED BASED COMMUNICATION VOICE is robotic/monotonous Immediate/delayed echolilia Lack of spontaneous speech poor imaginative play Narrow interests

19. DIAGNOSIS 5

20. Before ASD assesment The symptoms need to have been present since the early developmental period ,significantly impact the functioning of child. Not be better explained by ID or GDD

21. Screening Accurate diagnosis requires -careful review of history and -Direct observation of childs behaviour M-CHAT : 20 items when to screen?- 16-30 months of age East to administer A questionnaire for parents Combined with clinical evaluation.

22. For most items, YES is a typical response, and NO is an at-risk response. HOWEVER,items 2,5 and 12 are reverse scored, meaning that NO is a typical response and YES is an at-risk response

23. SCORE ANALYSIS Total score 0-2 The score is LOW risk.No follow-up needed.child has screened negative.Rescreen at 24 months if the child is younger than 2 years old(or after 3 months has elapsed) and reffer as needed if developmental surveillance Total score 3-7 The score is MODERATE risk.administer the M-CHAT follow up items that correspond to at risk responses. only those items which were scored at risk need to be completed. if 2 or more items continue to be at risk, refer the child immediately for a)early intervention b)diagnostic evaluation. Total score: 8-20 The score is HIGH risk.it is not necessary to complete M-CHAT-R Follow up at this time.Bypass follow-up , refer the child immediately for a)early intervention b)diagnostic evaluation.

24. M-CHAT BEST 7 Score 0-2 :low risk : no need for follow up M CHAT BEST -7 -follows a point -pretend play -Declarative point -Brings to show -Interest in peers -Responds to name -Seems deaf

25. ITEM-1 As the child is engaged with a toy,call the name (maximum upto 4 times) 0:child looks at you in 1st 2 calls 1:child looks at you 3rd or 4th call 2:child doesn’t look ITEM-2 Point to an object at a distance with your index -first look at child,then object,then child;you can repeat once more if not responding 0:child follows your gaze & turns to object 1:child turns directly to object without making eye contact 2.No interest ITEM-3 Quality of eye contact 0:clear,flexible appropriate;consistent with other gestures&mimics 1:doesn’t use or rarely uses eye contact for social interaction TIDOS- 3 ITEM DIRECT OBSERVATION SCREEN can be done in a short time span in OPD

26. Autism assesment scales Autism behaviour checklist screening parent rated Age group CARS screening Clinician 2 years and above M-CHAT R screening parent rated 16-30 months Autism Diagnostic Interview revised (ADI-R) Diagnostic Clinician Above 2 years Diagnostic interview for social & communication disorders(DISCO) Diagnostic Clinician for all age groups Autism diagnostic observation schedule(ADOS) Diagnostic semi structured interactive session 12-30 months (Toddler modules)

27. Neuro imaging ASD with -Abnormal neurologic examination -seizures -Headache

28. MRI Increased head size & brain volume (mainly frontal and anterior temporal lobes) Reduced volume in bilateral amygdala- Hippocampus complex

29. EEG Sleep deprived EEG Indicated when -History of unusual spells or behaviours frankly s/o seizures -History of significant regression in language skills: Landau-kleffner syndrome(acquired epileptic aphasia)

30. Genetic evaluation Recommended especially in the presence of dysmorphic features or intellectual disability No specific mutation has been identified that is specific for ASD Recommended to test for fragile x syndrome for all children with ASD, especially for boys and children with s/o history of male members with intellectual disability

31. other assesment Medical history- Antenatal,seizures,any genetic/syndromic assosciation Physical examination-neurocutaneous syndromes,vision,hearing any congenital anomalies Anthropometry Any deficiencies

32. INVESTIGATIONS TFT Karyotype Chromosomal microarray: to detect known abnormalities clearly assosciated with ASD 15q11-13 maternal duplications,16p 11.2 deletions/duplications Neuro metabolic workup: PKU,Biotinidase deficiency,folate deficiency ASD Panel- if parents expecting next child

33. TREATMENT 6

34. what next after screening? Once ASD is suspected,confirm EARLY INTERVENTION=BEST RESULTS Refferal for a multi disciplinary intervention Management is Individualised BOTH SOCIAL SKILLS & COMMUNICATION TRAINING

35. How managing ASD is different Need for regular assesment of treatment programmes programmes should be reviewed & modified as childs abilities & needs to change overtime.

36. GOALS OF THERAPY IMPROVE: Social functioning & play skills, communication & adaptive skills DECREASE:Non functional or negative behaviours PROMOTE:Academic functioning & cognition

37. Evidence based approaches APPLIED BEHAVIOURAL ANALYSIS(ABA)-based on principles of direct incremental teaching of skills within a traditional behavioural framework strategies matched to identify behaviour(cognitive,communication,selfcare, employement support) DEVELOPMENTAL RELATIONSHIP BASED INTERVENTION NATURALISTIC DEVELOPMENTAL BEHAVIOURAL INTERVENTION

38. SPEECH & LANGUAGE THERAPY- can inculde non-verbal communication PHYSIOTHERAPY/OCCUPATIONAL THERAPY- Deficits in motor functioning,planning or sensory processing

39. MEDICATIONS PHARMACOTHERAPY First line: BEHAVIOUR & EDUCATIONAL INTERVENTIONS Medications for specific target behaviours 1.Sleep onset: melatonin for regulation 2.Epilepsy:ASM 3.Irritability,aggression,repetitive behaviours: RISPERIDONE &ARIPIPRAZOLE 4.ADHD: stimulants METHYL PHENIDATE & ATOMOXETINE (Decrease hyperactivity &increase attention span) 5.Nutritional supplements:Iron,folate,vit B12,vit D,vit C

40. ROLE OF PAEDIATRICIAN Early suspicion councelling of parents Appropriate referral Regular monitoring to note improvement Avoid Blanked statements.

41. prenatal councelling population risk of having a child with ASD :1% if one child has ASD- risk for UNBORN child-5-8% >90% CHANCE of having typically developing child Risk is higher in children with genetic syndromes

42. Medications not useful L-carnosine PUFA Stem cell therapy-no role Heavy metal chelation-no role Elimination diet-may be useful in assosciated food allergy

43. co-existing comorbidities overlaps with ASD Intellectual disability Attention Deficit Hyperactivity disorder sleep disorders feeding and gastrointestinal symptoms seizures obesity Anxiety wandering

44. DIFFERENTIALDIAGNOSIS 7

45. Differential diagnosis Hearing loss : The child has normal social interaction and non verbal communication,lacking only verbal communication Selective mutism : child is completely mute only in the presence of strangers Global developmental delay/intellectual disability : Development is globally affected. Social communication is effected on par with other domains ADHD :Social communication domain is not significantly effected hyperactivity is usually meaningful,intelligence is not effected.

46. ASD MYTHS vaccination-There is clear evidence that vaccines do not cause ASD Dietary changes and use of other modalities: Gluten free,casien free diet is not recommended for children with ASD unless they have celiac disease or gluten sensitivity similarly complementary and alternative therapies including antimicrobial agents,IVIG,vitamin A,vitamin B6,chelation,hyperbaric oxygen,homeopathy,vagus nerve stimulation and stem cell transplantation are not recommended.

47. PROGNOSIS The prognosis for PROFOUNDLY Autistic individuals : Formal education is often not possible Formal employment is often not possible Assisted living is essential or the duration of the persons life. HIGH FUNCTIONING AUTISTICS : Live totally independent lives Formal education is possible including tertiary qualifications Formal employment is often possible some will go on to get married and have families of their own.

48. REFERENCE Nelson Textbook of Paediatrics 2 2nd edition . IAP Guidelines. https://autism-india.org/Aut/frequently-asked-questions.php

49. NATIONAL CENTER FOR AUTISM IN INDIA FAQ Have 28 questions https://autism-india.org/Aut/frequently-asked-questions.php

50. FAQ Q1.Do people with autism not like other people? Can they make friends? Q2. How do I choose intervention of my child? Q3. Do people with autism have special gifts or talents, and how can I develop these in my child? Q4. If a child has autism and intellectual impairment or any other condition which needs more attention, autism or intellectual impairment (or any other condition)? Q5. Do people with autism also have Intellectual Impairment (mental retardation)?

51. Q6. Will it help my child if I relocate to the U.S. or another country? Q7. Can adults with autism get married and have regular children? Q8. What will happen to my child after me? Is there any hostel for such children? Q9. What are chances of Autism in the next child born to us? Can we have a normal child? Q10. Can speech therapy help my child?

52. Q11. Will my child improve? When and will my child ever speak? Q12. What are the chances of my child going to a regular school? Q13. Can an autistic child ever live an independent life? Q14. How does autism affect play behaviors? Q15. How is ASD different from Intellectual Impairment (Mental Retardation)?

53. Q16. Why is my child so hyperactive? Q17. Why does my child keep playing with his fingers/ rocking himself back and forth/ spinning around etc? Q18. What is the treatment for autism? Q19. Is there a cure for autism? Q20. What is the cause of autism?

54. Q21. What is Asperger's Syndrome? Q22. What is difference between Autism Spectrum Disorder, Autism, and PDD-NOS? Q23. How common is autism? Q24. How autistic is my child? How is severity, degree or level of autism measured? Q25. How do I know whether my child is autistic? Q26. When do we tell our children that they have autism? Q27. Getting a disability certificate Q28. What happens to people with autism when they grow up?