Autism for parents and doctors for better understanding

1. AUTISM SPECTRUM
DISORDERS :
CURRENT CONCEPTS
Dr. Lokanadha Reddy M V
Consultant Paediatrician & Neonatologist
Sreenika Children’s Clinic
Bangalore

2. INTRODUCTION
Autistic disorder
Asperger Syndrome
Childhood Disintegrative
Disorder (CDD)
PDD-NOS
Rett syndrome
Pervasive Developmental Disorders-PDD
+
AUTISM
SPECTRUM
DISORDER
Left out as molecular basis is known
and causative gene identified
=
Previous Nomenclature

3. INTRODUCTION
• A life-long disease but
• Early intervention and multidisciplinary approach
improves long-term prognosis
• A good proportion of children have the potential
for favourable adaption in the society
• Recent trend in rising cases because of increased
awareness in doctors, parents and availability of
improved diagnostic facilities

4. AUTISM - THE CORE OF
ASD
• First described by Kanners in 1943
• Complex neuro-developmental and neurobehavioral disability
appearing in first 3 years of life
• 4-32% have GTCS seizures at some point in life
• 70% have Mental Retardation, 1/3rd mild to moderate and 1/2
severe to profound MR
• Autism Day - 8th April
• Organisations - Autism Research Institute, Autism speaks(US),
Action for Autism (India)

5. Impaired Social
Interaction
• Highly withdrawn
• Isolated in his own
world
• Failure to react to
other people
Impaired
Imagination
• Extreme aloofness
• Obsessive desire for
sameness in routine
and surroundings
Impaired
Communication
• Language deficits
• Communication
problems
Comorbiditi
es
• Mental
Retardation
• Seizures
• Learning
disabilities

6. EPIDEMIOLOGY
• 2-6 / 1000 children have autism
• Prevalence in US 1 in 88, South Korea 1 in 38, India 1
in 250
• Currently India has 10 million Autism cases
• Most cases are first born or late born (>4)
• Boys >> Girls
• No association b/n ASD and Socioeconomic status

7. ETIOLOGY
• Regarded as developmental disability like CP, Learning
disability, ADHD etc
• Genetic predisposition appears to have major role
Genetic Predisposition Neurologic Theory Organic Theory
Occurs in Identical and
Fraternal twins
Damage to Reticular
Formation of Brain stem
in Congenital Rubella,
leading to “window of
vulnerability” for ASD
Based on abnormal
brain rhythms in EEG
Family studies - 50-100
times risk in siblings
PKU, Infantile spasms,
Herpes encephalitis
Linkage Analysis - 4-5
contributing genes on
Chr. 2,4,7,15,19
Susceptibility locus on
long arm of Chr 13 & 17

8. ETIOLOGY
• Identical twins - Risk 36-95%
• Non-identical twins - Risk 0-31%
• Sibling (Next pregnancy) - Risk 2-18%
• ASD a/w chromosomal diseases like Down’s, Fragile
X, Tuberous sclerosis etc..
• Majority may not have intellectual disability (IQ<70)
• Bad parenting as a cause is a myth. No role for
family dynamics

9. PATHOPHYSIOLOGY
• NEURO-IMAGING :
• Cerebral cortex abnormalities esp. Prefrontal and Temporal lobes
• Increased volume of occipital, parietal and temporal lobes.
• Temporal lobe is critical in ASD. Autistic like syndrome seen in
people with temporal lobe damage.
• CT Scan: Ventricular enlargement in 20-25%
• EEG : Abnormalities seen in 10-23% cases
• NEUROPATHOLOGICAL : Cerebellar hypoplasia with loss of granule
cells and purkinje cells
• NEURO-CHEMICAL : Abnormalities of dopamine, catecholamine and
serotonin pathways

10. CLINICAL FEATURES
SOCIAL INTERACTION
COMMUNICATION
RIGID/REPETITIVE BEHAVIOUR

11. CLINICAL FEATURES
RESPONDING TO OTHERS
1. Absent or delayed response to name being called, despite normal hearing
2. Reduced or absent responsive social smiling
3. Reduced or absent responsiveness to other people’s facial
expressions or feelings
4. Unusually negative response to the requests of others (“demand
avoidance” behaviour)
5. Rejection of cuddles(hug) initiated by parent or carer, although the child
himself or herself may initiate cuddles

12. CLINICAL FEATURES
INTERACTION WITH OTHERS
1. Reduced or absent awareness of personal space, or unusually intolerant
of people entering their personal space
2. Reduced or absent social interest in others, including children of his or her
own age—may reject others; if interested in others, he or she may approach
others inappropriately, seeming to be aggressive or disruptive
3. Reduced or absent imitation of others’ actions
4. Reduced or absent initiation of social play with others, plays alone
5. Reduced or absent enjoyment of situations that most children
like—for example, birthday parties
6. Reduced or absent sharing of enjoyment

13. CLINICAL FEATURES
SPOKEN LANGUAGE
1. Speech delay Using fewer than 10 words for 2 years age
2. Speech Regression
Not using words which were spoken
previously
3. Unusual sounds
Vocalisations that are not speech-like
Odd or flat intonation
Reference to self by name or “you” or “she” or
“he” beyond age 3 yr
4. Echolalia Frequent repetition of set words and phrases
5. Reduced / infrequent use of words
Use of single words, although able to speak in

14. CLINICAL FEATURES
EYE CONTACT, POINTING AND GESTURES
1. Reduced or absent use of gestures and facial expressions to
communicate (although may place an adult’s hand on objects)
2. Reduced and poorly integrated gestures, facial expressions, body
orientation, eye contact , and speech used in social communication
3. Reduced or absent “joint attention” (when 1 person alerts another to
something by means of gazing, finger pointing, or other verbal or nonverbal
indication for the purpose of sharing interest). This would be evident in the
child from lack of:
○ Gaze switching
○ Following a point (looking where the other person points to)
○ Using pointing at or showing objects to share interestIDEAS AND IMAGINATION
1. Reduced or absent Imagination and pretend play

15. CLINICAL FEATURES
UNUSUAL OR RESTRICTED INTERESTS
RIGID & REPETITIVE BEHAVIOURS
1. Repetitive “stereotypical” movements
Hand flapping
Body rocking
Spinning
Finger flicking
2. Repetitive or stereotyped play Opening and closing doors
3. Over focused or unusual interests
4. Excessive insistence on following own
agenda
5. Extremes of emotional reactivity to
change or new situations
insistence on things being “the
same”

16. CLINICAL FEATURES
JOINT ATTENTION
❖ Following pointing (10-12 months)
❖ Pointing for need or interest (12-16 months)
❖ Sharing enjoyment (12-16 months)
PRE –PLAY SKILL
❖ Imitating gestures (12-18 months)
SOCIAL & EMOTIONAL RESPONDING
❖ Eye contact (3-5 months)
❖ Responding to name (7 months)
❖ Social referencing (10 -12 months)
What is normal
development?
What is
abnormal in
autism?

17. COMORBIDITIES
1. ADHD Hyperactivity, Inattention
2. Disruptive behaviour Self injury, aggression, tantrums
3. Obsessive-compulsive traits
Repetitive behaviour, sticking
than act/thought stubbornly
4. Mood problems Depression/ Mood swings
5. Sleep disturbances
Impaired initiation, maintenance
and early arousal
6. Seizures
GTCS/partial/infantile
spasms/epileptic aphasia
7. Food problems Narrow food preferences
8. Constipation

18. FIRST SCREENING

19. SOCIAL ISSUES

20. SOCIAL ISSUES

21. SOCIAL ISSUES

22. SOCIAL ISSUES

23. SOCIAL ISSUES

24. SOCIAL ISSUES

25. SOCIAL ISSUES

26. COMMUNICATION
ISSUES

27. COMMUNICATION
ISSUES

28. COMMUNICATION
ISSUES

29. REPETITIVE
BEHAVIOURS

30. REPETITIVE
BEHAVIOURS

31. REPETITIVE
BEHAVIOURS

32. REPETITIVE
BEHAVIOURS

33. BIZZARE
BEHAVIOURS

34. BIZZARE
BEHAVIOURS

35. BIZZARE
BEHAVIOURS

36. BIZZARE
BEHAVIOURS

37. BIZZARE
BEHAVIOURS

38. BIZZARE
BEHAVIOURS

39. BIZZARE
BEHAVIOURS

40. BIZZARE
BEHAVIOURS

41. BIZZARE
BEHAVIOURS

42. BIZZARE
BEHAVIOURS

43. MOTOR ISSUES

44. MOTOR ISSUES

45. MOTOR ISSUES

46. MOTOR ISSUES

47. MOTOR ISSUES

48. MOTOR ISSUES

49. MOTOR ISSUES

50. SENSORY ISSUES

51. SENSORY ISSUES

52. SENSORY ISSUES

53. SENSORY ISSUES

54. SENSORY ISSUES

55. SENSORY ISSUES

56. SENSORY ISSUES

57. SENSORY ISSUES

58. SENSORY ISSUES

59. SENSORY ISSUES

60. SENSORY ISSUES

61. SENSORY ISSUES

62. SELF-INJURY
BEHAVIOUR

63. SELF-INJURY
BEHAVIOUR

64. SELF-INJURY
BEHAVIOUR

65. SELF-INJURY
BEHAVIOUR

66. SAFETY ISSUES

67. SAFETY ISSUES

68. SAFETY ISSUES

69. GASTRIC ISSUES

70. SLEEPING ISSUES

71. ALTERED PAIN
RESPONSES

72. SEIZURES

73. DIAGNOSTIC CRITERIA
A. Persistent deficits in social interaction & Communication
1. Social-emotional
reciprocity
2. Non-verbal
communication
3. Developing &
understanding
relationships
1. Abnormal social
approach
2. Failure of normal
back-and-forth
conversation
3. Reduced sharing of
interests, emotions
4. Failure to initiate or
respond to social
interactions
1. Poorly integrated
verbal & nonverbal
communication
2. Poor eye contact &
body language
3. Poor use of gestures
4. Complete lack of
facial expressions
and nonverbal
communication
1. Difficulties in
adjusting behaviour
to suit various social
contexts
2. Difficulties in sharing
imaginative play or
in making friends
3. Absence of interest
in peers

74. DIAGNOSTIC CRITERIA
B. Restricted repetitive patterns of behaviour, interests or activities
(Any Two)
1. Stereotyped or
Repetitive
motor
movements,
use of objects
or speech
2.Insistence on
sameness,
inflexible
adherence to
routines, or
ritualised patterns
of verbal or
nonverbal
behaviour
1. Simple motor
stereotypes
2. Lining up of toys
or flipping objects
3. Echolalia,
Idiosyncratic
phrases
1. Extreme distress
at small changes
2. Difficulties with
transitions
3. Rigid thinking
patterns, greeting
rituals
4. Need to take
same route or eat
same food daily
3. Highly
Restricted, fixated
interests that are
abnormal in
intensity or focus
1. Strong
attachment or
preoccupation
with unusual
objects
2. Excessively
circumscribed or
perseverative
interest
4. Hyper or Hypo-
reactivity to
sensory input or
unusual interests
in sensory aspects
of environment
1. Indifference to
pain/temp
2. Adverse
response to
specific
sounds/textures
3. Excessive
smelling/touching
of objects
4. Visual fascination
with
lights/movements

75. DIAGNOSTIC CRITERIA
C. Symptoms must be present in early developmental period
D. Symptoms cause clinically significant impairment in social,
occupational, or other important areas of functioning
E. These disturbances not better explained by intellectual disability and or
global developmental delay.
+/- Intellectual impairment
+/- Language impairment
+/- Genetic/medical condition/ environmental factor
+/- another neuro-developmental/ mental/ behavioural disorder

76. SEVERITY LEVELS
Level 3
Requiring very
substantial support
Social communication - severe verbal or nonverbal
deficits, very limited initiation, minimal response
Eg: A person with
Few words of intelligible speech
Rarely initiates interaction
Makes unusual social approaches
Responds to only direct social approach
• Inflexibility of behaviour
• Extreme difficulty coping
with change
• Repetitive behaviours
markedly interfere with
functioning in all spheres
• Great difficulty changing
focus/action
Level 2
Requiring substantial
support
Social communication - marked verbal or nonverbal
deficits, limited initiation, abnormal responses
Eg: A person who
Speaks simple sentences
Interaction limited to narrow special interests
Markedly odd non-verbal communication
• Inflexibility of behaviour
• Difficulty coping with
change
• Repetitive behaviours
obvious to casual observer
and interfere with some
functions
• Difficulty changing
focus/action
Level 1
Requiring support
Social communication - Noticeable deficits,
decreased interest in interactions
Eg: A person who
Speaks full sentences and engages in communication
But to & fro conversations fail and attempts to make
friends are odd and unsuccessful
• Inflexibility of behaviour
interferes with one or
more functions
• Difficulty switching b/n
activities
• Problems of organisation
and planning

77. DIFFERENTIAL
DIAGNOSIS• Social Communicative Disorder - SCD vs ASD
• SCD has only communication problems
• Getting very close to others when speaking
• Not modulating their voice
• Not taking turns in conversation
• No repetitive or stereotyped behaviours
• Childhood onset schizophrenia
• Mixed receptive-expressive language disorder

78. TESTING
• Psychological evaluation
• Speech, language and IQ assessment
• Karyotyping, EEG, Neuro-imaging in some cases

79. MULTIDISCIPLINARY
APPROACH

80. MANAGEMENT
• GOALS
• Advancement of normal development, esp.
cognition, language, socialisation
• Promotion of learning and problem solving
• Reduction of behaviours that impede learning
• Treatment of comorbid conditions

81. NON-PHARMACOLOGICAL
MEASURES
• Establishing contact and communication with the child is
the key
• Multidisciplinary approach - Paediatrician, psychologist,
social worker, education specialist and parents
• 3 strategies
• Behavioural modification
• Help for family
• Arrangement for educational and social services

82. PHARMACOTHERAPYComorbidity Drug Dose Adverse effects Remarks
ADHD Methylphenidate 0.3-0.6mg/kg
Anorexia, Headache
Insomnia, tics, emotional
instability
CNS stimulant
Disruptive,
aggressive/self-
destructive
behaviour
Risperidone 0.25-5mg/day
Wt. gain, drowsiness, tardive
dyskinesia, drooling
Atypical NeuroLeptic
(most widely used NL)
Disruptive mood
changes
Fluoxetine
Fluvoxamine
5-40mg/day
12.5-200mg/day
GI upset, Insomnia, headache,
hypomania, easy fatiguability
Somnolence, Tremors, weight
loss
Dryness of mouth, GI upset
Most widely used SSRI
Don’t give with
Astemizole/Cisapride (QT
prolongation)
Anxiety Lorazepam
0.5-2mg/day
÷ 2-3 doses
Drowsiness, sedation, dizziness,
weakness, unsteadiness
High-potency, intermediate
duration BDZ, longterm-
tolerance
Sleep disorder Melatonin 5mg/day
Headache, mental impairment,
mood changes
Efficacy proven in studies
Seizures
Valproate
Levera
Ethosuximide
15-30mg/kg/day
TID
10mg/kg/day BD
Max40mg/kg/day
15mg/kg/day BD
1mg/kg/day OD
Max 3-
Hepatotoxicity, Hyperammonemia,
pancreatitis
Nervousness, somnolence
Skin rash
Ketogenic diet/ steriods in
some cases are used

83. STEM CELL THERAPY
• Showing some benefits in recent trials
• Stem cells can have paracrine effect, immune-
modulatory effects
• Improvement is seen in behavioural problems,
hyperactivity, repetitive movements etc
• Safe in children in some studies

84. MISCELLANEOUS
• VACCINATION : Remains same as routine,
MMR can be given
• PROGNOSIS: With improved care, subjects who
do fairly well in the society is on the rise.
• SPECIAL SCHOOLS : Need to be improved with
infrastructure
• NGO : Action for Autism in India

85. REFERENCES
• Nelson’s Textbook of pediatrics 20th Edition
• Suraj Gupte - Recent advances in Pediatrics
Volume-23
• HANS - Help Autism Now society Handbook of
autism