Case Studies:
Study one:
Ram, a 2 year old child was
brought to the clinic of Dr. M. Vijay Kumar, a pediatrician and a speech
pathologist. The parents were concerned that Ram responds inconsistently, when
called by name and does not “speak”. Ram was born to nonconsanguineous parents,
antenatal and birth history was normal. He had head control at the age of 4
months, started sitting at 8 months and walking at 14 months. Language wise, he
was using single words like /amma/, /appa/ and /atta/ in a consistent manner
till the age of 18 months. Since the age of 18 months, he has been not been
using the above words (history of regression of language milestones), he does
not respond to his name being called and does not interact with his peers.
On observing Ram, he was
not very keen on communicating with the physician, there was minimal eye
contact and used repetitive non meaningful language. It was difficult make the
child sit down and use toys to play, the level of play was inappropriate
for his age, he was mouthing toys rather than playing with them, he had an
obsession for spinning things as wheels of toys. Eye contact and intent to
communicate was absent except that when he got irritated and wanted to leave
the room, he held his mother’s hand and pulled her towards the door. Complete
lack of use of words were striking.
The DSM IV (Diagnostic
and Statistical Manual of Mental Disorders: DSM IV ) criteria were
administered and he had positive findings from Group IA-two findings, Group
IB-two findings and Group IC-two findings and one each from Group II and
Group III.
To corroborate the
findings, an informal assessment by a clinical psychologist was sought and the
child and the parents were administered the Childhood Autism Rating Scale. The
score was 48, which was significantly positive, suggesting that the child has
Autism Spectrum Disorder. (Total CARS scores range from a fifteen to 60, with a
minimum score of thirty serving as the cut-off for a diagnosis of autism
spectrum disorder)
Study two:
The second child was Nalini
a three year old child referred to us by a school teacher’s report saying that
the child does not listen in the class, speaks minimally and in an unclear
fashion. The referral letter by the teacher further added that Nalini had
minimal interest in studies and was disruptive in class.
Nalini was born to
consanguineous parents (father was the maternal uncle to Nalini’s mother). She
was born by a Caesarean section, weighed 3.0 kg and cried immediately at birth,
there were no ante natal issue or post natal issues. Her motor milestones as
head control, sitting, standing and walking were achieved normally or
typically, she was always a silent child and used gestures as pointing to
fulfil her needs. She would rarely respond by using inappropriate sounds but was
unable to utter any meaningful words.
The child was very quiet,
but was keen to communicate, she had good eye contact and had a warm smile, she
would respond emotionally as clapping to show that she was happy. Most of the
needs were indicated by pointing or dragging a parent to a specific place. The
DSM IV criteria did not fulfil the ASD norms and hence an auditory screening
test (Oto Acoustic Emission) was carried out, the child had failed the test and
hence a subsequent detailed auditory assessment in the form of Brainstem Evoked
Response Audiometry was done. The audiologist diagnosed the child as having a
profound hearing loss, the most obvious cause being a genetic one due to
consanguineous reasons.
Clinical Manifestations:
ASD falls under the spectrum
of Pervasive Developmental Disorders (PDD), which includes ASD, Asperger’s, and
Childhood disintegrative, Rett’s, and PDD not otherwise specified. Aberrant
development of social skills and impaired ability to engage in reciprocal
social interactions are hallmark symptoms of ASD. Early social skill deficits
can include abnormal eye contact, failure to orient to name, failure to use
gestures to point or show, lack of interactive play, failure to smile, lack of
sharing and lack of interest of other children (1).
Speech in Autistic children:
Children with ASD vary in
their verbal abilities, they can range from being verbal to having some speech
(capable of imitating songs, rhymes or TV commercials). Speech might have an
odd prosody or intonation and may be characterized by echolalia (imitative
repetition of words), pronoun reversal, nonsense rhyming and other
idiosyncratic language forms. Early abnormal language concerns includes absent
babbling or gestures by 12 months, absent 2-word purposeful phrases by 24 month
and any loss of language or social skills at any time (2).
The word “autism” has its
origin in the Greek word “autos,” which means “self.” Children with ASD often
are self-absorbed and seem to exist in a private world where they are unable to
successfully communicate and interact with others. Children with ASD may have
difficulty developing language skills and understanding what others say to
them. They also may have difficulty communicating nonverbally, such as through
hand gestures, eye contact, and facial expressions (3,4).
Not every child with ASD
will have a language problem. A child’s ability to communicate will vary,
depending upon his or her intellectual and social development. Some children
with ASD may be unable to speak. Others may have rich vocabularies and be able
to talk about specific subjects in great detail. Most children with ASD have
little or no problem pronouncing words. The majority, however, have difficulty
using language effectively, especially when they talk to other people. Many
have problems with the meaning and rhythm of words and sentences. They also may
be unable to understand body language and the nuances of vocal tones (3).
Below are some patterns of
language use and behaviors that are often found in children with ASD.
Repetitive or
rigid language:
Often, children
with ASD who can speak will say things that have no meaning or that seem out of
context in conversations with others. For example, a child may count from one
to five repeatedly. Or a child may repeat words he or she has heard over and
over, a condition called echolalia. Immediate echolalia occurs when the child
repeats words someone has just said. For example, the child may respond to a
question by asking the same question. In delayed echolalia, the child will
repeat words heard at an earlier time. The child may say “Do you want something
to drink?” whenever he or she asks for a drink (2,4).
Some children
with ASD speak in a high-pitched or singsong voice or use robot-like speech.
Other children may use stock phrases to start a conversation. For example, a
child may say “My name is Raj,” even when he talks with friends or family. Still
others may repeat what they hear on television programs or commercials (1,2).
Narrow interests
and exceptional abilities:
Some children
may be able to deliver an in-depth monologue about a topic that holds their
interest, even though they may not be able to carry on a two-way conversation
about the same topic. Others have musical talents or an advanced ability to
count and do math calculations. Approximately 10 percent of children with ASD
show “savant” skills, or extremely high abilities in specific areas, such as
calendar calculation, music, or math (3,4).
Uneven language
development:
Many children
with ASD develop some speech and language skills, but not to a normal level of
ability, and their progress is usually uneven. For example, they may develop a
strong vocabulary in a particular area of interest very quickly. Many children
have good memories for information just heard or seen. Some children may be
able to read words before 5 years of age, but they may not comprehend what they
have read. They often do not respond to the speech of others and may not
respond to their own names. As a result, these children sometimes are
mistakenly thought to have a hearing problem (2).
Poor nonverbal
conversation skills:
Children with
ASD often are unable to use gestures—such as pointing to an object to give
meaning to their speech. They often avoid eye contact, which can make them seem
rude, uninterested, or inattentive. Without meaningful gestures or the language
to communicate, many children with ASD become frustrated in their attempts to
make their feelings and needs known. They may act out their frustrations
through vocal outbursts or other inappropriate behaviors (4).
How are the
speech and language problems of ASD treated?
If a doctor suspects a
child has ASD or another developmental disability, he or she usually will refer
the child to a variety of specialists, including a speech-language pathologist.
This is a health professional trained to treat individuals with voice, speech,
and language disorders. The speech-language pathologist will perform a
comprehensive evaluation of the child’s ability to communicate and design an
appropriate treatment program. In addition, the pathologist might make a
referral for audiological testing to make sure the child’s hearing is normal.
(5)
Teaching children with ASD
how to communicate is essential in helping them reach their full
potential. There are many different
approaches to improve communication skills. The best treatment program begins
early, during the preschool years, and is tailored to the child’s age and
interests. It also will address both the child’s behaviour and communication
skills and offer regular reinforcement of positive actions. Most children with
ASD respond well to highly structured, specialized programs. Parents or primary
caregivers as well as other family members should be involved in the treatment
program so it will become part of the child’s daily life (6).
For some younger children,
improving verbal communication is a realistic goal of treatment.
Parents and caregivers can
increase a child’s chance of reaching this goal by paying attention to his or
her language development early on. Just as toddlers learn to crawl before they
walk, children first develop pre-language skills before they begin to use
words. These skills include using eye contact, gestures, body movements, and
babbling and other vocalizations to help them communicate. Children who lack
these skills may be evaluated and treated by a speech-language pathologist to
prevent further developmental delays (5,7). For slightly older children with
ASD, basic communication training often emphasizes the functional use of
language, such as learning to hold a conversation with another person, which
includes staying on topic and taking turns speaking (6).
Some children with ASD may
never develop verbal language skills. For them, the goal may be to acquire
gestured communication, such as the use of sign language. For others, the goal
may be to communicate by means of a symbol system in which pictures are used to
convey thoughts. Symbol systems can range from picture boards or cards to
sophisticated electronic devices that generate speech through the use of
buttons that represent common items or actions (7).
Play in Autistic Children:
Play skills in Autism are
typically under developed or absent, characterized by little symbolic play,
ritualistic rigidity, and preoccupation with parts or objects. The child with
Autism is often withdrawn and spends hours in solitary play, often with
restrictive or repetitive interests and behaviors (7, 8).
Intelligence and ASD:
Intellectual functioning in
Children with ASD can vary from mental retardation to superior intellectual
functioning, however there is a significant higher percentage of mental
retardation as compared to non-autistic population (9).
Diagnosis:
ASD is diagnosed by the
clinical examination, there are no blood tests to confirm autism. The gold
standard diagnostic tools are Autism
Diagnostic Interview- Revised (ADI-R) and the Autism Diagnostic Observation Schedule (ADOS), which require
referral to a trained professional for administration. IQ assessments reveal
that 30-60 % of children with ASD fall in the functionally retarded range. Deficits
in language and socialization often make it difficult to obtain an accurate
estimate of a child’s intellectual potential. Separate estimates of Verbal and
non-Verbal Intelligence Quotient should be obtained (9).
A thorough history
including family, birth and developmental history with special emphasis on
regression is essential. Medical history should also elicit presence or absence
of seizures, sensory deficits as hearing or vision. Family history for presence
of other family members with developmental disorders. History of medications
should also be reviewed. (10,11).
The diagnostic team might
include pediatricians, neurologists, occupational therapists, physical
therapists, and developmental specialists, among others. Speech and Language
Pathologists play a key role because problems with social skills and
communication are often the first symptoms of autism (12).
Pathology:
Retrospective analysis of
head circumference, in conjunction with MRI studies has shown differences in
the brain structure of children with ASD. The head circumference in children
with ASD shows a sudden spurt in growth from 2 months of age to 6-14 months of
age, the brain volume is increased and there is marked abnormal growth in the
frontal, temporal, cerebellar and limbic regions of the brain. Areas of the
brain responsible for higher order cognitive, language, emotional and social
functions are most affected (13,14).
Etiology:
The basis of ASD is diverse
and complex.
·
Multiple genetic regions (chromosomes 16p11.2,
15q24, and 11p12-p13) and gene variants are responsible.
·
Inheritance patterns of ASD demonstrate a 60%
concordance rate for monozygotic twins and no concordance in dizygotic twins (15).
·
A 4:1 male: female ASD prevalence ratio shows a sex
linked mechanism in significant nos of cases.
·
The consensus in the etiology is the presence of
spontaneous maternal and paternal genetic mutations that delete or inactivate
areas of the genome affecting early brain development (16).
·
The previously prevalent notion that MMR
vaccination was responsible for ASD does not have any evidence to support the
theory.
·
There may be genetic associations between ASD,
prematurity and the presence of childhood onset schizophrenia, suggesting
common neurological pathways which are responsible for the conditions (15,16).
Early
Identification:
Early identification and
intervention of ASD are associated with better outcomes. The diagnostic
instruments include
·
Checklist of Autism in toddlers (CHAT)
·
The modified Checklist for Autism in Toddlers
(M-CHAT)
·
Pervasive Development Disorders Screening Test
(PDDST)
·
Childhood Autism Rating Scale (CARS)
·
DSM V- Autism checklist (17)
Red flags for ASD include
failures to meet age- expected language or social milestones. Others early
signs include unusual use of language or loss of language skills,
non-functional rituals, inability to adapt to new settings, lack of imitation,
and absence of imaginary play. Deviations in social and emotional development
(such as decreased eye contact, failure to orient by name, and lack of joint
attention) can often be detected at 1 year of age. The absence of expected
social, communication, and play behaviour often precedes the emergence of odd
or stereotypical behaviors or the unusual language usage that is seen in AD in
the later years (18,19).
Treatment:
The primary goals of
treatment are to maximize the child’s ultimate functional independence and
quality of life. This is achieved the core features of the disorder,
facilitating development and learning, promoting socialization, reducing
maladaptive behaviors and supporting families.
The present policy across
the world and in India is one of Inclusive Education, wherein the child is
allowed to pursue a modified educational curriculum within the setup of a
normal school rather than going to a school specializing in special children. However
children with severe and profound autism, children with severe intellectual
disability and developmental delay would benefit from the services of a special
school (5).
Personal
Involved:
A child with ASD would
typically require a team of health professionals to assist the mainline school
teacher.
The professionals would
include,
Occupational Therapist- Occupational
therapy (OT): is the use of assessment and treatment to develop,
recover, or maintain the daily living and work skills of people with a
physical, mental, or cognitive disorder. Occupational therapy interventions
focus on adapting the environment, modifying the task, teaching the skill, and
educating the client/family in order to increase participation in and
performance of daily activities, particularly those that are meaningful to the
client (20).
Speech Pathologist-
Speech-language pathology is a field of expertise practiced by a clinician known as a
Speech-language pathologist (SLP), also called speech and language therapist, or
speech therapist, who specializes in the evaluation and treatment of communication
and swallowing disorders (17).
Physiotherapist: Physical therapy
or physiotherapy is a Rehabilitation profession that remediates impairments and
promotes mobility, function, and quality of life through examination,
diagnosis, prognosis, and physical intervention (19).
Clinical Psychologist: Clinical
psychology is an integration of the science, theory and
clinical knowledge for the purpose of understanding, preventing, and relieving
psychologically-based distress or dysfunction and
to promote subjective and behavioural well-being and
personal development. The role of the clinical psychologist is to diagnose and
monitor the development of a child with ASD. The role extends to assisting in
handling the stress levels of the parents and attending personnel (20).
Special Educators: Special
education or special needs education is the practice of educating students with
special needs in a way that
addresses their individual
differences and needs. Ideally, this process involves the individually planned
and systematically monitored arrangement of teaching procedures, adapted
equipment and materials, and accessible settings (21).
Pediatricians: Pediatricians
are medical Doctors who look after the physical wellbeing of children with ASD
and also monitor their progress across all domains of development, viz, motor,
language, adaptive and social. The pediatricians can also step in and prescribe
medications if required. Children with ASD tend to have co existing morbidities
like seizure disorders and hence require close monitoring by pediatricians and pediatric
neurologist (14,18).
Characteristics
of ideal childhood educational programs for children with ASD:
·
Starting intervention as early as possible.
Neuroplasticity is maximum under the age of 3.5 years, however therapy
initiated after this cut off period also shows benefits.
·
Providing intense intervention of at least 2.5
hours per week throughout the year.
·
Low student-to-teacher ratio.
·
Parent training.
·
Interacting with typically developing children
(normal).
·
Implementing generalisation of skills, applying
skills learnt in class in day to day activities.
·
Facilitating functional spontaneous communication,
social skills, and adaptive skills.
·
Reduction of maladaptive behaviors.
·
Each and every child with ASD is unique and requires
custom made solutions (6,11).
Well known
programs include:
·
Applied Behavioral Analysis (ABA).
·
Discrete Trial Training (DTT).
·
Treatment and Education of Autistic and related
Communication-handicapped Children (TEACH).
·
Cognitive Behavioral Therapy (CBT) (17).
Pharmacotherapy:
Pharmacotherapy can
increase the ability of a child with ASD to benefit from educational and other
programs and to remain in less restrictive environments. The main indications
for pharmacotherapy include the following
·
Comorbid conditions like seizure disorders.
·
Behaviors as aggression, self-injury,
hyperactivity, inattention, mood lability and sleep disturbances (15).
Pharmaco therapy is
commenced after ruling out treatable medical conditions and modifiable
environmental factors in modifying Behavioral issues to facilitate skill
acquisition.
Drugs used in treating ASD
including the indications are listed below.
·
Selective serotonin reuptake inhibitors for mood
and anxiety symptoms.
·
Haloperidol in treating stereotyped movements to
facilitate learning.
·
Risperidone has been approved by the US FDA for
treating irritability (18).
Prognosis:
Most persons with ASD
remain within the spectrum as adults, and regardless of their intellectual
functioning continue to experience difficulties with independent living,
employment, social relationships and mental health. Children, who have acquired
communication skills go on to live a better lives as compared to their
nonverbal counterparts. A better prognosis is associated with higher
intelligence, functional speech, and less bizarre symptoms and behaviour.
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