DISEASE CONDITION

INTRODUCTION

 Leo Kanner, a child psychiatrist, in 1943 first coined the term “autism”.

 11 children described who demonstrated:

• a profound lack of social engagement,failed to use language to communicate,

and had an obsessive need for sameness

DEFINITION
Autism is defined as a complex neurodevelopmental disorder characterized
by:qualitative impairments in social interaction,qualitative impairments in communication,
and restricted, repetitive, stereotyped patterns of behavior, interests and activities.

RELATED ANATOMY AND PHYSIOLOGY

4 WEEKS
 Gastro intestinal system:
Stomach at midline and fusiform.conspicuous liver;esophagus short;intestine a short tube.
 Musculoskeletal system:

Somites present.

 circulatory system:
Heart developes;double chambors visible;begins to beat;aortic veina and major veins
completed.
 Respiratory system:
Primary lung buds appear
 Renal system:
Rudementary ureteral budsappear.
 Nervous system:
Well marked mid brain flexure;no hind brain or cervical flexures;neural groove closed
 Sensory organs
Eye and ear appearing as optic vessel and otocyst.
 Genital system
Genital ridge appears
8 WEEKS

 Gastro intestinal system:

Intestinal villi developing;small intestines coin within umbilical cord;palatal folds

present;liver very large.

 Musculoskeletal system:

First indication of ossification-occiput,humerus and mandible;fetus capable of some

movement;definitive muscles if trunk,limbs,and head well represented.

 Circulatorysystem:

Main blood vessels assume final plan;enucleated blood cells predominant in blood

 Respiratory system:

Pleural and pericardial cavities forming;branching bronchiols;nostrils closed by

epithelial plugs.

 Renal system

Bladder urethra seperates from rectom

 Nervous system:

Differenciation of cerebral cortex,meninges,ventricular foramens,cerebro spinal fluid

circulation;spinal cord extends entire length of spine

 Sensory organs

Primoid choroid plexus develop;eyes converging rapidly;internal ear developing

 Genital system

Testes and ovary distinguishable;external genitals sexless

12 WEEKS

 Gastro intestinal system:

Bile secreted;palatal fusion complete;intestines have withdrawn from cord and assune
caracteristic positions.

 Musculoskeletal system:

Some bones well outlined;upper cervical to lower sacral arches and bodies ossify.

 Circulatory system:

Blood forming in marrow

 Respiratory system:

lungs acquire definite shape;vocal cords appear.

 Renal system

Kidney able to secrete urine;bladder expands as a sac

 Nervous system:

Brain structural configuration roughly complete;cord shows lumbar and cervical

enlargements;suckling present.

 Sensory organs

Earliest taste buds indicated;characteristic organization of attained.

 Genital system

Sex recognisable;internal and external sex organs specific.

16 WEEKS

 Gastro intestinal system

Meconium in bowel;some enzyme secretion;anus open.

 Musculoskeletal system:

Most bones distinctly indicated throughout body;joint cavities appear;muscular

movements can be detected.

 Circulatorr system:

Heart muscles well develop;blood formation active in spleen.

 Respiratory system:

Elastic fibres appear in lungs; terminal and resporatory bronchiols appear.

 Renal system:

Kidney in position;attains tipical shape and plan.

 Nervous system:

Cerebral lobes delineated;cerebellum assumes some prominance.

 Sensory organs:

General sense organs differenciated.

 Genital system:
 testes in position for descent into scrotum.

20 WEEKS

 Gastro intestinal system:

Enamel and dentine depositing;ascending colon recognisable.

 Musculoskeletal system:

Sternum ossifies;fetal movements strong enough for mother to feel.

 Respiratory system:

Nostrils re open;primitive respiratory like movements begin.

 Nervous system:

Brain grossly formed;cord myelination begins.

 Sensory organs:

Nose and ear ossify

24 WEEKS

 Circulatory system:

Blood formation increases in bone marrow and decreases in liver.

 Respiratory system:

Alveolar ducts and sacs present;lecithin begins to appear in amniotic fluid.

 Nervous system:

Cerebral cortex layered tipically.

 Sensory organs:

Can hear.

 Genital system:

testes at inguinal ring is descent to scrotum

28 WEEKS

 Musculo skeletal system:

talus and ankle bone ossifies.minimum tone

 Respiratory system:
 lecithin forming on alveolar surfaces.

 Nervous system:

Appearance of cerebral fissures.indefenite sleep wake cycle;cry weak or absent;weak

sucking reflex.

 Sensory organs:

Eyelids reopen;retinal layers completed;light receptive;pupils capable of reacting to

light.

30-31 WEEKS

 Musculo skeletal system:

Permanent teeth primordia seen;can turn head to one side.

 Respiratory system:

l/s ratio =1.2:1

 Sensory organs:

Sense of taste present.aware of sounds outside mothers body.

 Genital system:

Testes descending into scrotum.

36 WEEKS

 Musculo skeletal system:

Distal femoral ossification centers present.defenite movements;fair tone;can elevate

and turn head.

 Respiratory system:

l/s ratio=2:1

 Renal system:

Formation of new nephron ceases.

 Nervous system:

End of spinal cod at level l-3;defenite sleep wake cycle

40 WEEKS

 Musculo skeletal system:

 Active; sustained movement;good tone;may lift head.

 Respiratory system:

Pulmonary branching only two thirds complete.

 Nervous system:

Myelination of brain begins;patterned sleep wake cycle with alert periods;crisis when
hungry or uncomfortable.

 Genital system:

Testes in scrotum;labia majora well devloped.

Definition
Autism is a complex neurodevelopmental disorder characterized by qualitative
impairments in social interaction, communication, and restricted, repetitive, stereotyped
patterns of behavior, interests and activities.

Etiology

 Anoxia during pregnancy and delivery

 Maternal rubella
 PKU
 Encephalitis
 Meningitis
 Tuberous sclerosis

book picture patient picture

Anoxia during pregnancy and delivery Anoxia during pregnancy and delivery
Maternal rubella
PKU
Encephalitis
Meningitis
Tuberous sclerosis

Pathophysiology
 According to the American Psychiatric Association , diagnostic categories , infantile
autism is a pervasive neuro developmental disorder. The onset occurs befor 39 months of
age.

Clinical manifestations

A. Impairment in social interactions (4 criteria)

 Lacks eye-to-eye gaze, facial expression, gestures while interacting

 Fails to develop peer relationships
 Does not share interests with others (e.g., no bringing, or pointing out objects)
 Lacks social or emotional reciprocity

B. Impairment in communication (4 criteria)

 Has delayed development of speech

 Does not initiate or sustain conversation
 Has stereotyped and repetitive language or idiosyncratic language
 Lacks make-believe play or social imitative play

C. Repetitive behaviors and stereotyped behavior patterns (4 criteria)

 Has stereotyped, restricted patterns of interest, abnormal in intensity or focus

 Has inflexible adherence to specific, non-functional routines or rituals
 Has stereotyped and repetitive motor mannerisms (e.g., hand or finger flapping)
 Has persistent preoccupation with parts of objects

Boob Picture Patient Picture

Impairment in social interactions
Lacks eye-to-eye gaze, facial
 Lacks eye-to-eye gaze, facial
expression, gestures while interacting
expression, gestures while
interacting
Fails to develop peer relationships
 Fails to develop peer
relationships
Does not share interests with others
 Does not share interests with
others (e.g., no bringing, or
pointing out objects)
  Lacks social or emotional
reciprocity
B. Impairment in communication Has delayed development of speech

 Has delayed development of

speech
 Does not initiate or sustain
conversation
 Has stereotyped and repetitive
Lacks make-believe play or social
language or idiosyncratic
imitative play
language
 Lacks make-believe play or
social imitative play
C. Repetitive behaviors and stereotyped
behavior patterns

 Has stereotyped, restricted

patterns of interest, abnormal in
intensity or focus
 Has inflexible adherence to
specific, non-functional routines
or rituals
 Has stereotyped and repetitive
motor mannerisms (e.g., hand or
finger flapping)
 Has persistent preoccupation
with parts of objects

Diagnosis of Autism

In first year of life: no clear discriminating features

Abnormally accelerated rate of growth in head size between 6-14 months of age: an
early warning signal of risk for autism
Alerting signals in children 2-3 yrs of age

Social impairments

 Does not imitate actions (e.g., clapping).

 Does not show toys to other people.
 Lacks interest in other children (e.g., does not smile at or touch face of another
child).
 Is indifferent to other people's happiness or distress (e.g., not distressed when
mother cries).
 Prefers to be alone (does not want cuddling or act cuddly).
 Has little or no eye contact.
 Prefers solitary play activities.
 Has odd relationships with adults (too friendly or ignores).
 Develops loss of any social skills.

Communication impairments

 Does not babble, point by 12 months.

 Does not speak single words by 18 months.
 Does not speak two word spontaneous (non- echoed) phrases by 24 months.
 Has poor response to name (may seem to be deaf).
 Has delayed language development, especially comprehension.
 Has unusual use of language (e.g., repeats words or phrases in place of normal
responsive language).
 Has deficient non-verbal communication (e.g., no gestures with hands while
talking).
 Does not participate in shared imaginary games (e.g. cannot play ring-a-ring roses
or other nursery games).
 Develops loss of any language skills.

Repetitive and stereotyped behavior patterns

 Resists changes in routine (e.g., rigid and limited dietary habits)

 Inappropriate attachment to objects (e.g., carries teddy bear all day long)
 Unable to cope with change, especially in unstructured setting (e.g., uncontrollable
crying when taken first time to beach)
  Has repeated motor mannerisms (e.g., hand flapping, rocking)
 Plays oddly and repetitively with toys (e.g., lines up objects, spins objects)
 Turns light switches on and off, regardless of scolding
 Is over-sensitive to sound or touch (e.g., frequently wakes up at night)
 Bites, hits, aggressive to peers
 Laughs, cries or shows distress for reasons not apparent to others

Alerting signals in primary school age children

Social impairments

 Does not join in with the play of other children (e.g., cannot play football)
 Makes inappropriate disruptive attempts at joint play (e.g., tries to play football but
cannot understand its rules)
 Lacks classroom "norms" (e.g., does not cooperate in classroom activities)
 Does not follow current trends (e.g., with regard to other children’s interests)
 3. Gets easily overwhelmed by social stimulation (e.g. crowd phobia)
 Fails to relate normally to adults (either too intense or no relationship)

Communication impairments

 Speaks in a monotonous tone, or with abnormal modulation of volume

 Displays persistent echolalia
 Refers to self as "you," "she," or "he"
 Has unusual vocabulary for child's age or social group (e.g., knows names of all
world currencies, capital cities of all countries)
 Has limited use of language for communication (may be mistaken as being deaf
mute)
 Has tendency to talk freely but only about specific topics (e.g., car models)

Repetitive and stereotyped behavior patterns

 Shows extreme reactions to invasion of personal space (e.g. temper tantrums)

 Shows extreme resistance to being "hurried"
 Wants to watch the same educational video repeatedly
 Has intense interest in a particular topic (e.g., train timetables, dinosaurs)
 Is unable to cope with change or in unstructured situations (e.g., school picnic)
  Has unusual responses to sensory visual / olfactory stimuli (e.g. starts crying in
sunlight)

Book Picture Patient Picture

Alerting signals in children 2-3 yrs of
age
Social impairments  Does not imitate actions (e.g.,
clapping).
 Does not imitate actions (e.g.,
clapping).
 Does not show toys to other
 Does not show toys to other
people.
people.
 Lacks interest in other children
 Lacks interest in other children
(e.g., does not smile at or touch
(e.g., does not smile at or touch
face of another child).
face of another child).
 Is indifferent to other people's
happiness or distress (e.g., not
distressed when mother cries).
 Has little or no eye contact.
 Prefers to be alone (does not want
 Prefers solitary play activities.
cuddling or act cuddly).
 Has little or no eye contact.
 Prefers solitary play activities.
 Has odd relationships with adults
(too friendly or ignores).
 Develops loss of any social skills.
Communication impairments

 Does not babble, point by 12

months.
 Does not speak single words by
18 months.  Does not speak two word
 Does not speak two word spontaneous
spontaneous (non- echoed)
phrases by 24 months.
 Has poor response to name (may
 seem to be deaf).
 Has delayed language
development, especially  Has delayed language
comprehension. development, especially
 Has unusual use of language comprehension.
(e.g., repeats words or phrases in
place of normal responsive
language).
 Has deficient non-verbal
communication (e.g., no gestures  Has deficient non-verbal
with hands while talking). communication (e.g., no gestures
 Does not participate in shared with hands while talking).
imaginary games (e.g. cannot
play ring-a-ring roses or other
nursery games).
 Develops loss of any language
skills.
Repetitive and stereotyped behavior
patterns

 Resists changes in routine (e.g.,

rigid and limited dietary habits)
 Inappropriate attachment to
objects (e.g., carries teddy bear
all day long)
 Unable to cope with change,
especially in unstructured setting
(e.g., uncontrollable crying when
taken first time to beach)
 Has repeated motor mannerisms
 Has repeated motor mannerisms
(e.g., hand flapping, rocking)
 Plays oddly and repetitively with
toys (e.g., lines up objects, spins
objects)
  Turns light switches on and off,
regardless of scolding
 Is over-sensitive to sound or
touch (e.g., frequently wakes up
at night)
 Bites, hits, aggressive to peers
 Laughs, cries or shows distress
for reasons not apparent to others

Management

• A multidisciplinary team of professionals trained and specialized in autism is

necessary.

• The team should include:

 Developmental pediatrician,

 Child psychiatrist,

 Occupational (behavioral) therapist,

 Speech therapist,

 Psychologist,

 Specialist teacher and

 Social worker.

Initial Assessment

• Thorough medical examination: detailed medical and developmental history,

meticulous physical examination to identify neurocutaneous markers for tuberous
sclerosis (including Wood's light examination), and dysmorphic features for fragile X
syndrome (do chromosome study if indicated).
• CBC and peripheral blood smear examination should be done to rule out iron
deficiency anemia if the child’s dietary habits are limited.

• Routine Cranial CT / MRI scan not necessary.

• Audiometric and ophthalmic examinations should be done to rule out associated

hearing and visual deficits, as this is essential in any communication disorder.

• No need to do an EEG routinely but a high index of clinical suspicion should be

maintained for subtle symptoms of seizures.

Early intensive behavioral and educational intervention therapy

• No known ‘cure’ for autism.

• But, early intensive behavioral and educational intervention therapy can help
ameliorate core behavioral deficits.

• 15-25 hrs/week as soon as diagnosis of autism is considered and definitely before four
years of age

• Interventions should be continued for 3- 4 yrs till they improve their ability to learn
and get educated

• As every autistic child is unique the interventions are highly individualized.

• Skills are taught in small steps, mastered, and then generalized.

• Individualized 1-to-1 therapy provided in a distraction-free structured environment by

behavioural therapists under supervision of a developmental pediatrician.

• Only positive reinforcement used to teach child.

• Parents trained to generalize the skills learnt by their child in the home environment.

• Non-retarded autistic children who continue to experience difficulties in regular

schools may need to attend special schools to continue their education.

Pharmacological management

• Atypical antipsychotics (risperidone, olanzapine, clozapine) for temper tantrums,

aggression, or self-injurious behavior;
 • Fluoxetine) for anxiety and repetitive behaviors; and
• Psychostimulant (methylphenidate), opioid antagonist (naltrexone) for hyperactivity.
• Symptomatic epilepsy needs to be treated and appropriate medication prescribed
depending on seizure type.

Book picture Patient picture

Initial Assessment
1. Thorough medical examination: • Thorough medical examination:
detailed medical and developmental detailed medical and developmental
history history
2. CBC and peripheral blood smear
examination should be done to rule out
iron deficiency anemia if the child’s
dietary habits are limited. • Audiometric and ophthalmic
3. Audiometric and ophthalmic examinations
examinations
4. Individualized 1-to-1 therapy provided Individualized 1-to-1 therapy provided in a
in a distraction-free structured distraction-free structured environment
environment by behavioural therapists
under supervision of a developmental
pediatrician.
• positive reinforcement
5. positive reinforcement
Pharmacological management
1. Atypical antipsychotics (risperidone,
olanzapine, clozapine) for temper
Risperidone
tantrums, aggression, or self-
injurious behavior;
2. Fluoxetine) for anxiety and repetitive
Fluoxetine
behaviors; and
3. Psychostimulant (methylphenidate),
opioid antagonist (naltrexone) for
hyperactivity

Health education
I explained to the parents regarding,

• appropriate schools, and community-based support systems such as 30 The family

physician can play an important role in counseling the parents and classroom teacher;
and monitoring the child’s medical, social and academic progress on a long term basis

• Written detailed report of evaluation.

• List of all relevant professionals.

• Action plan.

• Access to support groups.

• Timely respite.

• Adolescent / adult services.

• Unconventional therapies: intravenous infusions of secretin, combined vitamin B6-

magnesium treatment, casein and gluten free diets, sensory integration therapy,
traditional occupational therapy, auditory integration therapy, and music therapy are
NOT useful.