Department of Child and Adolescent Psychiatry, Carol Davila

University of Medicine and Pharmacy

Autism Spectrum Disorders

 L. Kanner L. Wing
S. Baron-Cohen

⮚ Leo Kanner (1943): „Autistic Disturbance of Affective Disorder”;

⮚ Hans Asperger (1944): „Autistic Psychopathology in childhood”;
⮚ Andreas Rett (1964): Rett’s Disorder;
⮚ Wing si Baron-Cohen (2005): propose the concept of Autism Spectrum
Disorder (ASD).
 Definitions and classifications:

⮚ clinical characteristics: qualitative, severe and pervasive impairment

in the following developmental areas: Triad of impairment

• reciprocal social interaction

• communication
• repetitive behavior

clinical-partners.co.uk

⮚qualitative impairments are impairments that are clearly deviant in

relation to the level of development or mental age of the individual
⮚usually manifest from the first years of life (onset before the age of
3)
Diagnosis - history
 299.00 Autistic Disorder
299.0x Infantile Autism
299.80 Rett's Disorder
299.9x Childhood Onset 299.10 Childhood
Pervasive Developmental
Disorder Disintegrative Disorder
299.80 Asperger's Disorder
299.8x Atypical Pervasive
Developmental Disorder 299.80 PDD -NOS (Including
Atypical Autism)
etiologically and clinically heterogeneous
continuum with varying degrees of severity/disability

https://hubpages.com/health/Living-the-Autistic-Life
it’s difficult to distinguish exactly the limits of the 3 disorders included under the term ASD “umbrella”

https://amraradoncic.files.wordpress.com/2012/04/umbrella_autismspectrumdisorders1.gif
 Neurodevelopmental disorders

• Intellectual Disabilities
• Communication Disorders

• Autism Spectrum Disorder

• Attention-Deficit/Hyperactivity Disorder
• Specific Learning Disorder
• Motor Disorders
• Other Neurodevelopmental Disorders
 Autism Spectrum Disorder diagnosis
(Autism Spectrum Disorder)

involves mandatory specifiers

“Specify if:

❑ With or without accompanying intellectual impairment

❑ With or without accompanying language impairment

❑ Associated with a known medical or genetic condition or environmental factor

❑ Associated with another neurodevelopmental, mental, or behavioral disorder”

ICD 10 (F 84): Pervasive developmental disorders

• Childhood Autism
• Rett’s syndrome
• Other childhood disintegrative disorder
• Asperger’s syndrome
• Pervasive developmental disorder, unspecified
(Atypical autism)
With/without intellectual impairment
With/without functional language
impairment
 Why such a rate of increase in prevalence?

- change in diagnostic practices?

- evaluation by specialists
- availability of services
- age at diagnosis
- awareness in the population
- improved efficiency of case reporting
- the actual frequency of autism has increased
(environmental factors?)
 Autism Spectrum Disorders 1990 – 2014
45.00%
Child and adolescent Psychiatry Department 42.58%
42.26%
”Prof. Dr. Al. Obregia” Psychiatry Hospital
39.68%
40.00%

35.00%

30.00%

24.28%
25.00% 22.96%
20.16%
20.00%
17.47%

14.36%
15.00% 13.38%
11.41%
10.55%
10.00%
6.10%5.67% 6.02%
4.39% 4.95%5.65%
5.00% 3.41%3.38% 3.96% 3.61%
2.75%2.60%

0.00%
1990 1991 1992 1993 1994 1995 1996 1997 1998 1999 2000 2001 2002 2003 2004 2005 2006 2007 2008 2009 2012 2013 2014

Ilinca Mihailescu, et al, 2016

 Trends in child and adolescent psychiatric diagnoses
between 1990 and 2014 in Child and Adolescent
Department, “Prof. Dr. Al. Obregia” Psychiatry Hospital

45

40 Schizofrenie
Tulb. Dispozitie
35 Tulb. Anxietate, OCD
Tulb. disociative, somatoforte
30
TSA
ADHD
25
Tulb. Conduita

20

15

10

0
1990 1991 1992 1993 1994 1995 1996 1997 1998 1999 2000 2001 2002 2003 2004 2005 2006 2007 2008 2009 2012 2013 2014

Ilinca Mihailescu, et al, 2016

 Etiology
⮚ numerous studies
⮚ multifactorial etiology (F. Happe, 2006)
⮚ the exact causes of ASD have not been established
⮚ more than 60 different entities (genetic, infectious, toxic) - correlated with ASD

⮚ Buxbaum (2005):
- 90-95 % of ASD is idiopathic
- 5-10% of ASD is secondary (environmental factors, chromosomal abnormality, well-
identified gene)
 Genetics, epigenetics

Epigenetics mechanisms
National Institutes of Health
 Etiological Theories

⮚ Biological theories: ASD = syndrome caused by multiple conditions

affecting the CNS; biological anomalies remain mostly unknown.

⮚ Genetical theories: sustained by family and twin studies

- genetic complex disorder (disorder for which is responsible more
than one gene)
- causal genetic variants (ex: Prader Willi/Angelman syndrome, Fragile
X syndrome)
- susceptibility loci
- the assortative mating theory (Baron-Cohen)
 Etiological Theories
⮚ Neuroanatomical theories: affecting certain brain areas (frontal,
temporal lobes, amygdala, hippocampus, cerebellum; left hemisphere
dysfunction, brain volumes studies)

⮚ Psychosocial theories (Kanner - psychogenic influences: parental

attitudes contribute to the “emotional freezing of autistic children”)

⮚ Neuropsychological theories:
- facial expressions and the perception of social stimuli
- theory of the mind
- hyper-systemising and hypo-empathy theories
- central coherence theory
- intense world theory
Red Flags for ASD
 Autism - Patterns of onset
Patterns of autism onset
- atypical elements in development from - the so-called regression phenomenon
the first year of life is described in approximately 30%
- the most common symptom recognized percent of the cases of children with ASD
by parents is the delay in the - developmental regression of
development of expressive language acquisition after a period of 1-2 years of
- non-verbal communication difficulties apparently typical development
precede spoken language problems - only a small proportion of these
-lack of eye contact, difficulties in children with autism have the expected
attracting attention to object of interest acquisitions for their chronological age
shown by the adult - in most cases, this regressive pattern is
- lack of imitation of actions characterized by the loss of acquired
- lack of shared enjoyment acquisitions by a child who presents a
- inability to look in the direction the more subtle delayed/atypical
parent is pointing developmental profile
- repetitive motor behaviors
Autism and Vaccines

CDC notifications since 2013

Autismul and Vaccines
Modified immune response in case of
children with ASD

Some families with children with ASD

may present a certain cellular
sensitivity to certain substances in the
vaccine
Mitochondrial defect

It does not mean that vaccination

causes autism
Interaction with any pathogenic
agent produces the accentuation of
pathology

THE IMMUNOLOGICAL STORM WILL

OCCUR ANYWAY

Han M., 2018

DSM 5 diagnostic criteria for ASD
DSM 5 diagnostic criteria for ASD
DSM 5 diagnostic criteria for ASD
Severity level Social communication Restricted, repetitive behaviors
Severe deficits in verbal and nonverbal social
communication skills cause severe impairments in
Level 3 functioning, very limited initiation of social interactions, Inflexibility of behavior, extreme difficulty coping with
"Requiring very and minimal response to social overtures from others. change, or other restricted/repetitive behaviors markedly
substantial For example, a person with few words of intelligible interfere with functioning in all spheres. Great
support” speech who rarely initiates interaction and, when he or distress/difficulty changing focus or action.
she does, makes unusual approaches to meet needs
only and responds to only very direct social approaches.
Marked deficits in verbal and nonverbal social
communication skills; social impairments apparent even
Inflexibility of behavior, difficulty coping with change, or
Level 2 with supports in place; limited initiation of social
other restricted/repetitive behaviors appear frequently
"Requiring interactions; and reduced or abnormal responses to
enough to be obvious to the casual observer and interfere
substantial social overtures from others. For example, a person who
with functioning in a variety of contexts. Distress and/or
support” speaks simple sentences, whose interaction is limited to
difficulty changing focus or action.
narrow special interests, and how has markedly odd
nonverbal communication.
Without supports in place, deficits in social
communication cause noticeable impairments. Difficulty
initiating social interactions, and clear examples of
atypical or unsuccessful response to social overtures of Inflexibility of behavior causes significant interference with
Level 1
others. May appear to have decreased interest in social functioning in one or more contexts. Difficulty switching
"Requiring
interactions. For example, a person who is able to speak between activities. Problems of organization and planning
support”
in full sentences and engages in communication but hamper inde
whose to- and-fro conversation with others fails, and
whose attempts to make friends are odd and typically
unsuccessful.
ICD 11 diagnostic criteria for ASD
ICD 11 diagnostic criteria for ASD
ICD 11 diagnostic criteria for ASD
 Social interaction deficits:

✔Does not respond to name

✔Lack of eye contact or eye contact is inconsistent
✔Does not initiate social relations with peers, do not share enjoyment, achievements or interests
with those close to them
✔Lack of finger pointing, lack of imitation
✔Interacts with others only if he has a direct interest
✔Does not identify other’s emotions
✔Does not adapt behavior according to context, interests or emotions of others
✔Lack of non-verbal communication for social interaction
✔Avoids touching
 Communication deficits

✔Delay in expressive language development

✔The child does not use non-verbal language to communicate
✔When language is developed it has no communicative function
✔Modified tonality, exaggerated pedantry, peculiar prosody
✔Immediate and delayed echolalia
✔Does not initiate or sustain a conversation
✔Difficulty acquiring first-person speech
✔Does not understand metaphors, irony, humor, sarcasm
✔Persist in conversations about topics of interest to them
Restrictive, repetitive pattern of behaviors, interests and
activities

✔Repetitive motor behaviors

✔Adherence to non-functional routines
✔Pathological attachment to certain objects
✔Excessive concern for an area of interest
✔Need for routine and order
✔Fascination for parts of objects
✔Hyper or hyporeactivity to tactile, gustatory, visual, olfactory stimuli
 Learning process characteristics

✔unequal acquisitions and performances in various areas: sometimes they have special abilities in a
certain area
✔resistance to trying to change the learning environment
✔has difficulties when he has to wait or use of free, unstructured time, difficulties in organizing,
planning
✔fails to generalize the learned skills
✔he has difficulties with abstraction and conceptualization - he needs concrete instructions
✔is easily distracted by certain auditory and visual stimuli
✔does not understand the implicit or metaphorical meaning of words, they use the words to the letter
(ad litteram)

✔does not understand facial expressions or “body language”

Bergeson et al, 2003
Childhood autism Asperger’s syndrome

⮚ Echolalic language ⮚ Language with communicative value

⮚ Third or second person speech ⮚ Unable to initiate or maintain social relations
⮚ Lack of empathy ⮚ Above average intelligence /IQ>70
⮚ Bizarre, repetitive preoccupations with
various objects
⮚ Motor and vocal stereotypes
⮚ Poor, stereotyped play
⮚ Very good learning mechanisms
(recognizes people, streets, buildings
etc)
✔ 1944 – H. Asperger

✔ “autistic psychopathy”

✔ Impairment in social behavior, social

interaction

✔ Stereotyped, repetitive, restricted patterns

of behavior, interests or activities

✔ There is no clinically significant delay in

language and cognitive development
https://www.aane.org/asperger-profile-big-picture-challenges/
https://www.aane.org/asperger-profile-big-picture-challenges/
 Asperger’s syndrome and Theory of Mind

Difficulties explaining other’s behaviors

Deficiency in understanding complex

emotions

Cannot predict behavior or mental status

Trouble understanding the other’s person

perspective

Baron-Cohen, 1995
Tager – Flusberg, 2000
 Asperger’s syndrome and Theory of Mind

Does not understand social conventions

Does not have the ability to interpret non-
verbal social cues
Lack of emotional reciprocity
Inappropriate behaviors related to social
situations

Rigid, inappropriate interaction

Baron-Cohen, 1995
Tager – Flusberg, 2000
 Social interactions
deficits Unstructured
Sensory experiences environment

Depression
Anxiety
Auto and
EF difficulties Bullying
heteroaggressive
behaviors
 SCREENING AND EARLY DIAGNOSIS

✔The American Academy of Pediatrics recommends that all children

should be assessed, regarding development and the identification of
risk elements for autism spectrum disorder, with standardized
instruments and at regular intervals.
✔These visits are recommended to be done at 9, 18, 24 and 30 months.
Primary screening:

⮚ CHAT (Checklist for Autism in Toddlers)

⮚ M-CHAT (The Modified Checklist for Autism in Toddlers)
⮚ ESAT (Early Screening for Autistic Traits)
⮚ CSBS checklist (Communication and Symbolic Behavior Scales Checklist)
Secondary screening:

⮚ CSBS Behavior sample/SORF (Communication and Symbolic Behavior

Scale Developmental Profile-Behavior Sample/Systematic Observation of
Red Flags)
⮚ SCQ (Social Communication Questionnaire)
⮚ STAT (Screening Tool for Autism in Toddlers and Young Children)
⮚ GARS (Gilliam Autism Rating Scale)
⮚ CARS (Childhood Autism Rating Scale)
In Romania:

⮚ the TSA screening is carried out by the family doctor and/or pediatrician
using a screening tool developed by the Pediatric Psychiatry Committee
of the Ministry of Health.

⮚ The clinical instrument, which includes questions addressed to the

parents and the direct observation of the doctor who makes the
assessment, is applied to children at the age of 12, 18, 24 and 36 months,
respectively.
Questions for the parent: Yes No Sometimes
Does your child look you in the eye when you are talking to him or her? 0 2 1
Have you ever wondered if your child might be deaf? 2 0 1
Is your child a picky eater?/ Does he/she seem to have no appetite? 2 0 1
Is he/she reaching out to you to be embraced? 0 2 1

Does he/she resist being held by you? 2 0 1

Does he/she respond to “peek-a-boo” game? 0 2 1
Does he/she smile when you smile at him/her? – question replaced at
24 months with the question: Does he/she use the word "mother" 0 2 1

when he/she calls you?

Can he/she stay alone in the crib when he/she is awake? 2 0 1
Does your child always respond when you call his or her name?/ Does
0 2 1
he/she turn his/hear head when called by his/her name?
Score Interpretation Attitude
Observations by the family doctor:
Avoids direct gaze/ Does not maintain eye contact 0-6 1 Minimal
0 risk Follow-up
- is not required
Obvious lack of interest for people 7-9 1 0 risk
Medium -
Reassessment in 3 months
After 24 months: Motor stereotypes (hand flapping, jumping, toe
walking, spins around its own axis, inappropriate posture etc.) 10-18 1 Severe
0 risk Referral
- to the pediatric psychiatry/neuropsychiatry specialist
doctor

National Program for Early Identification of Autism Spectrum Disorder and Associated Disorders
Screening process difficulties

✔ parents' refusal - psychiatric pathology is still stigmatized in our country - the parent
will postpone or even refuse the psychiatric evaluation
✔ low addressability in rural areas due to the lack of information of the population but
also due to the lack of structures to offer mental health services in some counties
✔Parents uninformed about typical neuropsychological development according to age
stages - they will not worry when the child does not meet the developmental stages
✔myths such as "he is lazy", "he will start talking after 3 years", "boys talk later" are
common
ASD diagnosis – psychiatric evaluation

✔assessment of ASD symptomatology (through interaction with the child

and direct observation of him) following the ICD 10/DSM5 diagnostic
criteria (the diagnosis will be based on the clinical judgment of the
evaluating doctor and on the use of a specific ASD diagnostic tool

✔medical history: prenatal and perinatal, family history, personal

physiological history, personal history of diseases

✔history of psychomotor development

 ASD diagnosis – psychiatric evaluation

✔evaluation of the educational and behavioral interventions used - lack

of stimulation, exposure to digital learning environments

✔information about family history and psychosocial aspects

✔evaluation of the cognitive resources and systematization/empathy

aspects of the parents, of the adults in the family
Psychological assessment

✔cognitive and learning abilities

✔language (expressive and receptive) and non-verbal communication
skills
✔social functioning
✔fine and gross motor skills
✔sensory-motor difficulties
✔adaptive behavior (including self-care skills)
✔emotional problems
✔scholastic abilities
✔individual skills and interests
Psychological assessment

✔ADI-R (Autism Diagnostic Interview-Revised)

✔ADOS (Autism Diagnostic Observation Schedule)

✔PORTAGE
✔CAROLINA
✔ABAS etc
 General physical examination

✔pathognomonic skin signs for neurofibromatosis/tuberous

sclerosis
✔congenital anomalies and dysmorphic features
(macrocephaly, microcephaly etc.)
✔skin lesions inflicted (eg: self-aggressive behavior)
✔measurement of head circumference
 Medical evaluation – differential diagnosis

✔EEG – will be repeated throughout evolution if

✔epileptiform changes were initially identified
✔there are periods of regression
✔clinically manifested epileptic seizures occur
✔Paraclinical investigations
✔Genetic evaluation
✔Neurological evaluation
✔Brain neuroimaging (CT, MRI)
✔ENT evaluation / Hearing examination
Comorbidities:
Associated neuro-
psychiatric symptoms Eating
disorders

autism360.com
Therapeutic intervention in ASD
 Therapeutic management in ASD

⮚Early therapy and educational interventions are vital

⮚There is no single approach that will cover all the needs of the child
with ASD

⮚Pharmacological and non-pharmacological interventions must be

complementary
Psychopharmacological
treatment

Medication approved to be used for

the treatment of irritability

✔ Aripiprazole – over 6 years

✔ Risperidone – over 5 years
 Behavioral therapy

Methods:
• ABA (Applied Behavioral Analysis)
• TEACCH (Treatment and Education of Autistic and other Communication-
Handicapped Children)
• PECS ( Picture Exchange Communication Systems)

Purpose:
• Reduction of excess behaviors: self-stimulation, auto- and heteroaggressiveness,
obsessive behaviors, tantrums
• Increase in deficient behaviors: language, socialization, play, self-help behaviors,
cognitive
 1. Developmental assessment of young children
should routinely include questions about ASD
symptomatology
2. Psychiatric evaluation of all children should
routinely include questions about ASD
ASD screening symptomatology
recommendations 3. Screening should include questions about core
symptoms of ASD

4. Screening tools can be useful to the clinician

 1. If screening indicates the presence of ASD symptoms, a thorough
psychiatric evaluation should be performed

2. There are currently NO diagnostic biological markers for ASD (diagnosis is

based on clinical assessment)

Recommendations 3. The evaluation of the history is an integral part of the diagnostic

evaluation (developmental history, family history, pathological personal
regarding the history, history of previous interventions and their result etc)
4. The identification of specific symptoms of ASD must be based on direct
diagnosis of ASD observation and obtaining relevant information from relatives ->
establishing the diagnosis according to ICD-10 (ICD-11) and DSM 5
5. The purpose of the evaluation is not limited to establishing the diagnosis,
but also includes the identification of the specific need for treatment and
intervention
6. There are a number of diagnostic tests, but their use, although
recommended and may support diagnosis, does NOT replace informed
clinical judgment. Diagnosis should NOT be based ONLY on the results of
these tests.
 1. The psychiatrist should recommend appropriate, structured, evidence-based
educational and behavioral interventions specific to children with ASD

Recommendations
regarding 2. The intervention plan must:
psychosocial and - to be adapted to the child's level of development
- to increase the level of understanding of parents, caregivers, teachers about the

educational communication and relationship models of children with ASD

- to be provided by professionals with training in specific intervention
- to be based on the functional analysis of behaviors (potential causes of
intervention in difficulties, etc.)
3. The psychiatrist must have an active role in the long-term monitoring of the
ASD child with ASD and in supporting the patient and the family.
 1. Antipsychotic medication should be considered for the management of
behavioral issues when psychosocial or other interventions are insufficient or
cannot be provided due to the severity of the behavior.

Recommendations 2. Antipsychotic drugs should be prescribed and monitored by a psychiatrist who

regarding should:
- identify the target behavior

pharmacotherapy - decide on an appropriate measure to monitor effectiveness, including frequency

and severity of behavior and a measure of overall impact
- review the effectiveness and possible side effects of the drug after 3–4 weeks
in ASD - stop the treatment if there is no improvement after 6 weeks
3. The management of comorbidities will be achieved through psychosocial
interventions and pharmacological treatment specific for each disorder, in
accordance with specific guidelines and recommendations.
ASD - lifetime disorders - IACAPAP
✔The majority of children with ASD will have:
✔difficulties in social interactions throughout their lives
✔they will need help in many areas
✔they will need structure, clarity and predictability
✔Quality of life can be improved when the child has access to
appropriate therapy programs
✔Prognosis should be discussed with the family in order to avoid
unrealistic expectations