2. AUTISM SPECTRUM DISORDER
Prof. Rai Muhammad Asghar
Head of Paediatric Department
Rawalpindi Medical College

3. AUTISM – through history
The fastest growing diagnoses of childhood (from ‘91 to ‘99-up 1108%)
Very complex, often baffling developmental disability
First described by Leo Kanner in 1943 as early infantile autism
“Auto” – children are “locked within themselves.”
For next 30 years, considered to be an emotional disturbance

4. WHAT IS AUTISM?
A neurodevelopmental disorder characterized, in varying degrees, by difficulties in social interaction, verbal and nonverbal communication and repetitive behaviors.
Very likely neurological in origin – not emotional
4 times more prevalent in boys
No known racial, ethnic, or social boundaries
No relation to family income, lifestyle

5. Prevalence “AUTISM EPIDEMIC”
Old estimate for autism:
~ 1/2500 (1985)
Recent estimates for autism:
~ 1/500 (1995)
Newest estimates for ASD:
1/150 (CDC, 2002)
1/110 (CDC, 2006)
1/88 (CDC, 2008)
NOW- 1/68 (CDC, 2010)
Might want to note 1% estimate in adults in the UK (2% of males)

6. Why are numbers increasing
Diagnostic changes
Categories
Broadening
Better tools and identification process
Awareness
Mental health providers, pediatricians, schools
Media, parents
Previous underestimates
- increased case ascertainment among children who have normal or above average intellectual functioning

7. WHAT IS AUTISM?
First, important to note that autism is a spectrum disorder characterized by:
Impairments in reciprocal social communication
Presence of restricted, repetitive behaviors (RRBs)
Spectrum = variability within and across these areas
1 in 150 children diagnosed with autism includes the entire spectrum

8. Asperger’s Disorder
Impairments in social interactions, and presence of restricted interests and activities
No clinically significant general delay in language
Average to above average intelligence

9. Pervasive Developmental Disorder – Not Otherwise Specified (PDD-NOS)
This category should be used when there is severe and pervasive development of reciprocal social interaction associated with impairment in either verbal or nonverbal communication skills OR with the presence of stereotyped behavior, interests and activities, but the criteria are not met for a specific PDD… For example, this category includes “atypical autism” – presentations that do not meet the criteria for Autistic disorder because of late age at onset, atypical symptomatology, or subthreshold symptomatology

10. CHARACTERISTICS 1. Communication/Language 2. Social Interaction
3. Behaviors
4. Sensory and movement disorders
5. Resistance to change (predictability)
6. Intellectual functioning

12. 1. Communication/language
Broad range of abilities, from no verbal communication to quite complex skills
Two common impairments:
Delayed language
Echolalia

13. A. Delayed language
50% of autistic individuals will eventually have useful speech (?)
Pronoun reversal: “You want white icing on chocolate cake.”
Difficulty in conversing easily with others
Difficulty in shifting topics
Look away; poor eye contact

14. Avoids eye-contact

15. B. Echolalia Characterized as a language disorder
Defined as the repetition in echo of other's speech
Common in very young children (Age 3)
Immediate or delayed (even years)
Children with ASD may use it as a communication device
with use of repetition as confirmation of desire, behavior regulation mechanism or means to speak when they are still unable to use their own words freely.

16. 2. Social Interaction
One of hallmarks of autism is lack of social interaction
Impaired use of nonverbal behavior
Lack of peer relationships
Failure to spontaneously share enjoyment, interests, etc. with others
Lack of reciprocity

17. Lack of peer relationships May show no interest in other children playing

18. May show no interest in Peek-a-Boo or other interactive games

19. May sit alone in crib screaming instead of calling out for mother
May strongly resist being held, hugged or kissed by parents

20. 3. Behaviors
Repetitive behaviors, including obsessions, tics, and perseveration
Impeding behaviors (impede their learning or the learning of others)
Self-injurious behavior
Aggression
Will need positive behavior supports

21. Spinning and hand flapping

22. Seemingly unaware of environment

23. Repetitively stacking or lining up objects

24. No sense of danger

26. Self injurious bahaviour

27. 4. Sensory and movement disorders
Very common
Over- or under-sensitive to sensory stimuli
Abnormal posture and movements of the face, head, trunk, and limbs
Abnormal eye movements
Repeated gestures and mannerisms
Movement disorders can be detected very early – perhaps at birth

28. Over- or under-sensitive to sensory stimuli
Gags at common household smells May have difficulty tolerating music

29. Over- or under-sensitive to sensory stimuli
May appear deaf, not startle at loud noises but at other times hearing seems normal

30. Poor cordination
Fine motor deficits

31. Depth perception deficit
Toe walking

32. Repetitive behaviors like rocking or Obsessively switching light on and off

33. 5. Predictability Change in routine is very stressful
May insist on particular furniture arrangement, food at meals, TV shows
Follows a rigid routine (e.g., insists on taking a specific route to school)
Symmetry is often important

34. Resists having clothes changed
May not like new
experiences such as birthday
candles or balloons

35. 6. Intellectual functioning
Autism occurs in children of all levels of intelligence, from those who are gifted to those who have mental retardation
In general, majority of individuals with autism are also identified as having mental retardation – 75% below 70
Verbal and reasoning skills are difficult
Savant syndrome
Savant syndrome (also known as autistic savant) is a condition in which a person with a developmental disability demonstrates profound and prodigious capacities or abilities far in excess of what would be considered normal.[1][2][3] People with savant syndrome may have neurodevelopmental disorders, notably autism spectrum disorders, or brain injuries. The most dramatic examples of savant syndrome occur in individuals who score very low on IQ tests, while demonstrating exceptional skills or brilliance in specific areas, such as rapid calculation (hypercalculia), art, memory, or musical ability.

36. Exceptional Balance OR
Clumsy

37. Comorbidities Intellectual impairment Epilepsy Sleep dysfunction
Motor delay
Behavioral difficulties like hyperactivity and obsessive compulsive phenomena
ADHD

38. Sleep dysfunction
Children may go days without any apparent need to sleep. May not seem to notice difference between day and night. May have difficulty going to sleep and staying asleep. May only sleep brief periods of an hour or two maximum. Consider the parent’s sleep-deprived state as a consequence.

39. Following delays warrant immediate assessment
No big smiles or other warm, joyful expressions by six months or thereafter
No back-and-forth sharing of sounds, smiles or other facial expressions by nine months
No babbling by 12 months
No back-and-forth gestures such as pointing, showing, reaching or waving by 12 months
No words by 16 months
No meaningful, two-word phrases (not including imitating or repeating) by 24 months
Any loss of speech, babbling or social skills at any age

40. Screening and assessment of suspected ASD cases
All children should receive autism-specific screening at 18 and 24 months of age
Screening tool for ASD – the Modified Checklist for Autism in Toddlers (M-CHAT)
If screening indicates ASD symptomatology, a thorough diagnostic assessment should be performed
Multidisciplinary assessment including a developmental pediatrician or pediatric neurologist, medical geneticist, child and adolescent psychiatrist, speech-language pathologist, occupational or physical therapist and/or medical social worker
Standard diagnostic tool for ASD - The Autism Diagnostic Observation Schedule (ADOS)

41. Parental approach in a child with suspected ASD
Schedule an autism screening. A number of specialized screening tools have been developed to identify children at risk for autism. Most of these screening tools are quick and straightforward, consisting of yes-or-no questions or a checklist of symptoms.
See a developmental specialist. If your pediatrician detects possible signs of autism during the screening, your child should be referred to a specialist for a comprehensive diagnostic evaluation. Screening tools can’t be used to make a diagnosis, which is why further assessment is needed
Seek early intervention services. The diagnostic process for autism is tricky and can sometimes take a while. But you can take advantage of treatment as soon as you suspect your child has developmental delays. Ask your doctor to refer you to early intervention services.

42. Medical Assessment of ASD patients
Detailed physical examination
Detailed psychological examination especially communication / language assessment
Formal audiologic evaluation
Blood lead levels
Wood’s lamp examination
Genetic testing: chromosomal microarray(CMA) if associated with intellectual impairment.
Neuroimaging and EEG when indicated
Metabolic testing when indicated
Detailed physical examination for dysmorphism and macrocephaly
Wood’s lamp examination for signs of tuberous sclerosis

43. Interventions Individualization and early intervention are the keys
Include life skills, functional academics, and vocational preparation
Positive behavior support
Social stories (music therapy?)

44. From Concern to Effective Treatment
Noticing & Developing Concerns
Discussing Concerns with Others
Accurate Diagnosis
Effective Treatment

45. Management Lifelong disorder – not generally “curable”
Requires chronic management
Pediatrician should aim to foster a long-term collaborative relationship with the family
Aims of management
diagnosis and identification of treatment programs in young children
behavioral and medication issues management in school age children
vocational training along with future self-sufficiency planning in adolescence and early adulthood.

47. Educational and behavior interventions
Goals of educational interventions are
Provision of intensive intervention, with active engagement of the child at least 25 hours per week, 12 months per year, in systematically planned, developmentally appropriate educational activities designed to address identified objectives;
Low student-to-teacher ratio to allow sufficient amounts of 1-on-1 time and small-group instruction to meet specific individualized goals
Inclusion of a family component (including parent training as indicated)

48. Educational and behavior interventions
Incorporation of a high degree of structure through elements such as predictable routine, visual activity schedules, and clear physical boundaries to minimize distractions
Reduction of disruptive or maladaptive behavior by using empirically supported strategies, including functional assessment
Implementation of strategies to apply learned skills to new environments and situations (generalization) and to maintain functional use of these skills
Use of assessment-based curricula that address:
Functional and spontaneous communication
social skills including joint attention, imitation, reciprocal interaction, initiation, and self-management

49. Initial strategies may include teaching the child to notice what is going on in their environment, to be able to pay attention, to imitate behaviour, and later progressing to communication skills, etc.

50. Specific Strategies Structured Teaching – The TEACCH method
organization of the physical environment
predictable sequence of activities and visual schedules
flexible routines
structured work/activity systems, and
visually structured activities.
Physical therapy
Improves gross motor skills
Helps in handling sensory integration issues

52. Specific Strategies Speech therapy Occupational therapy
Helps in improving communication skills
Non verbal children helped through use of alternative communication modalities
For individuals with fluent speech, the focus should be on pragmatic (social) language skills training.
Occupational therapy
Used as a treatment for sensory integration issues
Improves quality of life and ability to participate in daily activities
Non verbal children helped through use of alternative communication modalities such as sign language, electronic communication boards, visual supports, picture exchange, and other forms of augmentative communication.

53. Medical management
Have the same basic health care needs as children without disabilities
In addition, they may have unique health care needs that relate to underlying etiologic conditions
May increase the ability of children with ASD to benefit from educational and other interventions
Allows them to remain in less-restrictive environments through the management of challenging behavior.
Includes management of core symptoms as well as comorbidities

54. Psychopharmacologic Interventions
may be considered for
Maladaptive behaviors such as aggression
Self-injurious behavior
Repetitive behaviors (eg, perseveration, obsessions, compulsions, and stereotypic movements)
Sleep disturbance
Mood lability, irritability, anxiety
Hyperactivity, inattention, destructive behavior, or other disruptive behaviors.
Associated comorbid diorders like depression or bipolar disorder

55. Psychopharmacologic Interventions
For repetitive behaviors, physical aggression, self injury and severe tantrums – Anti psychotics (Risperidone and Aripiprazole)
For hyperactivity – Stimulants (methylphenidate) and Norepinephrine reuptake inhibitors (Atomoxetine)
For co-occuring depression and anxiety disorders - SSRIs

56. Seizures / Epilepsy
High prevalence of seizures (42%) in ASD patients with associated severe developmental delay or mental retardation
Anticonvulsant treatment in children with ASDs is based on the same criteria that are used for other children with epilepsy
Needs accurate diagnosis of the particular seizure type

57. Sleep problems Correlate with family distress
May have significant effects on daytime functioning and quality of life
There may be an identifiable etiology such as obstructive sleep apnea or gastroesophageal reflux – needs treatment of the cause
When there is not an identifiable medical cause, behavioral interventions including sleep-hygiene measures, restriction of daytime sleep and positive bedtime routines are helpful
Role of melatonin

58. Complementary and Alternative Medicine
Nonbiological interventions
auditory integration training
Behavioral optometry
craniosacral manipulation
dolphin-assisted therapy
music therapy
facilitated communication.
“a group of diverse medical and health care systems, practices, and products that are not presently considered to be part of conventional medicine.”

59. Complementary and Alternative Medicine
Biological interventions
Immunoregulatory interventions (eg, dietary restriction of food allergens or administration of immunoglobulin or antiviral agents)
Detoxification therapies (eg, chelation)
Gastrointestinal treatments (eg, digestive enzymes, antifungal agents, probiotics, “yeast-free diet,” gluten/casein-free diet, and vancomycin)
Dietary supplement regimens (eg, vitamins, magnesium, carnosine, omega-3 fatty acids, inositol, various minerals, and others)

60. Family Support
Increased stress experienced by parents and siblings of children with ASD
Provide support to parents by
educating them about ASDs
providing anticipatory guidance
training and involving them as cotherapists
assisting them in obtaining access to resources
providing emotional support through traditional strategies such as empathetic listening and talking through problems
assisting them in advocating for their child’s or sibling’s needs

61. Listen to the parent Consider the impact of
autism On the entire family

62. Parenting a child with ASD
 Focus on the positive
Just like anyone else, children with autism spectrum disorder often respond well to positive reinforcement. That means when you praise them for the behaviors they’re doing well, it will make them (and you) feel good.
 Stay consistent and on schedule.
People on the spectrum like routines. Make sure they get consistent guidance and interaction, so they can practice what they learn from therapy.

63. Parenting a child with ASD
 Put play on the schedule
Finding activities that seem like pure fun, and not more education or therapy, may help your child open up and connect with you.
Get support
Whether online or face-to-face, support from other families, professionals, and friends can be a big help. Support groups can be a good way to share advice and information and to meet other parents dealing with similar challenges. 

64. Parenting a child with ASD
 Take your child along for everyday activities
If your child’s behavior is unpredictable, you may feel like it’s easier not to expose them to certain situations. But when you take them on everyday errands like grocery shopping or a post office run, it may help them get them used to the world around them.

66. THANK YOU

67. Questions?