6 Getting a diagnosis

6.1 The importance of diagnosis

One of the questions that parents usually have is about the need for diagnosis. Many times parents do not want to get a diagnosis for a variety of reasons. Some parents argue that diagnosis just attaches a label and they are not comfortable with the label. Some parents feel that the child does not need a label as long as he/she is able to ‘cope’ with autism. Many parents are weary of the negative social implications of acknowledging their child’s autism.

So, why should one seek a diagnosis? The primary reason for either getting a diagnosis or not should be about the difference it makes to the child. When seen from that point of view, it seems to make more sense to get a diagnosis for the following reasons:

A diagnosis provides parents with accurate information about the various difficulties the child may have. This will help them get appropriate help.
A diagnosis helps get appropriate support for everyone, both the parents and the child
Without a diagnosis, the child grows up without support and accommodations. However, many people on the spectrum are aware that they do not ‘fit in’. This could result in feelings of alienation. Also, the effort needed to ‘fit in’ and cope is hard work.
In the absence of a diagnosis and an acknowledgement of their difficulties, children may be pushed to achieve goals that are set by the systems around them, instead of working on their specific difficulties. This may result in them growing up to be adolescents that have completed school and cleared exams but otherwise not functional for their age.
As the child grows up to be an adult, and social and emotional demands on them increase, they may not be able to cope. In the absence of a diagnosis, it may lead to feelings of inadequacy and can lead to depression and other mental health issues.
A diagnosis helps people make sense of who they are and their life experiences.

6.2 When should parents go for screening and diagnosis?

Naturally, parents routinely observe and assess their child’s progress during the early years, a practice known as developmental monitoring. In this process, parents, family members, or caregivers closely follow a child’s development in areas such as play, learning, speech, behavior, and physical movement. This vigilance allows them to gauge whether the child is reaching the typical developmental milestones and promptly detect any concerns that may arise. It’s advisable to maintain regular communication with the child’s primary physician regarding their developmental progress. Additionally, doctors routinely evaluate a child’s development during their regular check-up visits.

When there are concerns about the development of the child, parents should consult their primary care physician and they may be referred for further screening.

6.3 Diagnostic Process

While there are no definite known causes of autism, the process of diagnosing it often requires the involvement of multiple professionals and various assessments. As a result, it may not be a straightforward procedure, but early diagnosis is crucial for both the child and their family to enhance their quality of life and meaningfully navigate the condition.

6.3.1 Developmental Screening

If any delays or concerns are observed, the next step is to undergo developmental screening, a more formal evaluation of a child’s developmental progress. This screening process is conducted typically by a developmental pediatrician/ psychologist. It entails the use of structured questionnaires and checklists covering areas like language, physical abilities, cognitive skills, as well as behavioral and emotional aspects.

In instances where there are concerns or if a child is at a higher risk for Autism Spectrum Disorder (ASD), such as having a family member with ASD, additional screening may be recommended. It’s worth noting that developmental screening can be conducted as a standard part of a child’s regular health checkup, even if there are no apparent concerns.The American Academy of Pediatrics (AAP) recommends developmental and behavioral screening for all children during regular visits at the ages of 9 months 18 months and 30 months.

In addition, AAP recommends that all children be screened specifically for ASD during regular visits at 18 months and 24 months.

6.3.2 Screening Instruments

Most often the Modified Checklist for Autism in Toddlers, Revised with Follow-Up (MCHAT - R/F) or the Childhood Autism Rating Scale (CARS) is used.

MCHAT is a brief checklist of yes/no items for early detection among children 16 to 30 months of age.
Childhood Autism Rating Scale (CARS) observes a child’s behavior and uses a 15-point scale to evaluate a child’s relationship to people, body use, adaptation to change, listening response, and verbal communication.

A well-executed screening will determine whether a more comprehensive assessment for autism is required. Additionally, it aids in the identification or exclusion of any other potential issues or conditions that may be present.

6.3.3 Screening outcomes and diagnosis

Parental responses in the child’s screening are highly significant. If all results are within normal parameters and parents have no concerns, that will conclude the process. However, if the child exhibits developmental challenges or if the doctor shares any concerns, they will direct the parents to a specialist for further evaluations, which may include tests to rule out other issues, such as speech-hearing impairment.

Once other conditions are ruled out, and the child meets the ICD (International Classification of Diseases)- 10 or DSM - 5 (The Diagnostic and Statistical Manual of Mental Disorders) criteria for Autism Spectrum Disorder, the child will be diagnosed with Autism Spectrum Disorder (ASD).

6.4 Next steps

Based on the test results, the pediatrician may refer the parents for therapies (speech, behavioral, or occupational therapy). At this stage, it is vital that parents are taking informed decisions, understand the difficulties of their child and are aware and mindful of the choices they are making.

6.5 Screening and Diagnosis - A note for professionals

A pediatrician typically serves as the initial point of contact for a child and their family within the medical field. Therefore, it is of utmost importance that pediatricians vigilantly monitor a child’s natural development.

6.5.1 General signs

Does not respond to name by 9 months of age
Does not show facial expressions like happy, sad, angry, and surprised by 9 months of age
Does not play simple interactive games like pat-a-cake by 12 months of age
Uses few or no gestures by 12 months of age (for example, does not wave goodbye)
Does not share interests with others by 15 months of age (for example, shows you an object that they like)
Does not point to show you something interesting by 18 months of age
Does not notice when others are hurt or upset by 24 months of age
Does not notice other children and join them in play by 36 months of age
Does not pretend to be something else, like a teacher or superhero, during play by 48 months of age
Does not sing, dance, or act for you by 60 months of age

6.5.2 Communication

Does not give or sustain eye contact
Delayed speech and language skills
Flat, robotic speaking voice, or singsong voice
Echolalia (repeating the same phrase over and over)
Problems with pronouns (saying “you” instead of “I,” for example)
Not using or rarely using common gestures (pointing or waving), and not responding to them
Inability to stay on topic when talking or answering questions
Not recognizing sarcasm or joking
Trouble expressing needs and emotions
Not getting signals from body language, tone of voice, and expressions
Restricted or repetitive behaviors and interests

6.5.3 Unusual interests or behaviours

People with ASD have behaviors or interests that can seem unusual. These behaviors or interests set ASD apart from conditions defined by problems with social communication and interaction only. Examples of restricted or repetitive behaviors and interests related to ASD can include:

Lines up toys or other objects and gets upset when order is changed
Plays with toys the same way every time
Is focused on parts of objects (for example, wheels)
Gets upset by minor changes
Has obsessive interests
Must follow certain routines
Flaps hands, rocks body, or spins self in circles
Has unusual reactions to the way things sound, smell, taste, look, or feel
Fussy eating habits
Lack of coordination, clumsiness
Impulsiveness (acting without thinking)
Aggressive behavior, both with self and others
Short attention span

6.5.4 Other Characteristics

Most people with ASD have other related characteristics. These might include

Delayed movement skills
Delayed cognitive or learning skills
Hyperactive, impulsive, and/or inattentive behavior
Epilepsy or seizure disorder
Unusual eating and sleeping habits
Gastrointestinal issues (for example, constipation)
Unusual mood or emotional reactions
Anxiety, stress, or excessive worry
Lack of fear or more fear than expected

When any of these signs are observed, it is advisable to recommend that the family consult with a developmental pediatrician who can conduct more extensive screening and assessments.

6.6 Screening tools

Screening tools are assessments that identify at risk children. Children who are found to be at risk with the screening tool, should go for further assessments. Screening tool commonly used by clinical/ developmental psychologists and psychiatrists in India is

6.6.1 M-CHAT-R/F (Modified Checklist for Autism in Toddlers, Revised with Follow-Up)

The Modified Checklist for Autism in Toddlers, Revised with Follow-Up (M-CHAT-R/F; Robins, Fein, & Barton, 2009) is a two-stage parent-report screening tool designed to assess the risk of Autism Spectrum Disorder (ASD). The M-CHAT-R/F is freely available for download for clinical, research, and educational purposes. Here are the usage instructions:

The M-CHAT-R can be utilized and scored during routine well-child care visits, and it is also suitable for specialists and other professionals to evaluate the risk of ASD.
The primary objective of the M-CHAT-R is to maximize sensitivity, meaning it aims to identify as many cases of ASD as possible. Consequently, there is a relatively high rate of false positives, indicating that not all children who score as at risk will be diagnosed with ASD.
To address this, the Follow-Up questions (M-CHAT-R/F) have been developed. Users should be aware that even with the Follow-Up questions, a significant number of children who screen positive on the M-CHAT-R will not receive an ASD diagnosis. However, it’s important to recognize that these children are at a heightened risk for other developmental disorders or delays, making it crucial to consider further evaluation for any child who screens positive.

6.6.2 Occupational Therapy Evaluation

As an occupational therapist (OT), the evaluation of a child with autism involves a comprehensive assessment of various domains, including social, communication, cognitive, sensory, and motor skills. It is valuable to incorporate a sensory profile of the child and consider the results of assessments conducted by other professionals. The Autism Spectrum Disorder (ASD) assessment conducted by an occupational therapist can take place in diverse settings, such as at home, in school, or at one of our clinics.

During the ASD assessment, the occupational therapist, using their clinical expertise and specialized training, employs a combination of a sensory profile, autism checklist and clinical observation. The checklist and sensory profile is designed to gather information on how the child perceives and interacts with the world. For example, it includes questions related to the child’s comfort level in social situations, their preference for solitary play versus engaging with others, and other factors that provide insights into their sensory experiences and responses. This multidimensional assessment approach helps tailor intervention strategies to meet the child’s specific needs and challenges.

6.6.3 Speech and Language Evaluation

As a Speech Language pathologist (SLP), one can conduct initial screenings to identify any communication and language delays or atypical behaviors that may be indicative of autism. SLPs can conduct comprehensive assessments to evaluate a child’s communication and language skills. This assessment may involve evaluating speech and language development, as well as social communication abilities.

6.7 Diagnostic tools

It’s important to emphasize that while SLPs and OTs are experts in the area of communication and functional skills respectively, they do not have the authority to diagnose autism. The formal diagnosis of autism is typically made by a medical professional, clinical psychologist, or developmental pediatrician based on a comprehensive evaluation that considers various factors, including communication and language development, social interactions, and repetitive behaviors.

6.7.1 CARS - Childhood Rating Scale

The Childhood Autism Rating Scale (CARS) has been updated as the CARS-2. The original CARS was a widely-used rating scale for autism, primarily designed for individuals with co-occurring intellectual functioning. However, it faced criticism for not accurately identifying higher-functioning individuals on the autism spectrum. The CARS-2 preserves the original CARS format for use with younger or lower-functioning individuals (now known as the CARS2-ST or “Standard Form”). Simultaneously, it introduces a distinct rating scale designed for higher-functioning individuals (referred to as the CARS2-HF or “High Functioning”).

Clinically, the original CARS was sometimes misused as a parent questionnaire, but it was originally intended as a clinician rating scale to be completed following direct observation of the child by a professional knowledgeable about autism, who had also received some brief training on how to assess the CARS items. The CARS-2 maintains this format. Parent input can be gathered using the CARS2-QPC (Questionnaire of Parent Concerns), a form that parents use to document their observations (although it is not scored).

Specific guidelines for usage include: + CARS2-ST can be employed with children under the age of 6, or over the age of 6 but with an estimated IQ of 79 or lower, or if there is a significant communication impairment. + CARS-HF is administered to children aged 6 or older, with an estimated IQ of 80 or higher, and who possess fluent communication skills.

6.7.2 Autism Diagnostic Observation Schedule (ADOS) - (ADOS; Lord, Rutter, DiLavore, Risi, 1999)

The Autism Diagnostic Observation Schedule (ADOS) is considered the ‘gold standard’ for assessing and diagnosing autism and pervasive developmental disorder (PDD) in individuals of all ages, developmental stages, and language abilities. This semi-structured assessment is versatile and can be applied to evaluate individuals suspected of having autism, ranging from toddlers to adults, and encompassing those with a wide spectrum of language skills.

The ADOS comprises four distinct modules, each of which can be administered in a relatively short timeframe of 35 to 40 minutes. The module selected for assessment depends on the individual’s expressive language level and chronological age. Guided by the instructions in the manual, the appropriate module is chosen for each person. Module 1 is designed for children who do not consistently use phrase speech, Module 2 for those using phrase speech but not verbally fluent Module 3 for fluent children, and Module 4 for fluent adolescents and adults. It’s worth noting that the ADOS does not specifically address nonverbal adolescents and adults within the autism spectrum. During the ADOS assessment, there’s a 30- to 45-minute observation period that offers ample opportunities for a trained administrator to observe social and communication behaviors relevant to the diagnosis of pervasive developmental disorders. As the ADOS is conducted, observations are recorded and later coded to formulate a diagnosis. Cut-off scores are provided for both the broader diagnosis of PDD/atypical autism/autism spectrum and the more traditional, narrower concept of autism. By offering standardized materials and ratings, the ADOS provides an evaluation of autism spectrum disorders that remains independent of language capabilities.

6.7.3 Autism Diagnostic Interview, Revised (ADI-R) - (ADI-R; Couteur, Lord, Rutter, 2003)

The Autism Diagnostic Interview, Revised (ADI-R) is a structured interview employed for the purpose of diagnosing autism, planning treatment strategies, and distinguishing autism from other developmental disorders. Having been used in research studies for many years, this comprehensive interview is an invaluable tool for conducting a thorough assessment of individuals suspected of having autism or related autism spectrum disorders. The administration and scoring of the ADI-R typically take between 1 1/2 to 2 1/2 hours.

To administer the ADI-R, a skilled clinical interviewer engages in a structured dialogue with a parent or caretaker who possesses in-depth knowledge of the developmental history and current behaviors of the individual being assessed. This interview can be utilized for assessing both children and adults, provided their mental age is above 2 years and 0 months.

The ADI-R consists of 93 items and focuses on three key functional domains: Language/Communication Reciprocal Social Interactions Restricted, Repetitive, and Stereotyped Behaviors and Interests

Following highly standardized procedures, the interviewer records and codes the responses provided by the informant. The interview questions cover eight distinct content areas:

The subject’s background, including family, educational history, previous diagnoses, and medication use.
An overview of the subject’s behavior.
Early development and achievement of developmental milestones.
Language acquisition and potential loss of language or other skills.
Current functioning related to language and communication.
Social development and play.
Interests and behaviors.
Clinically relevant behaviors, such as aggression, self-injury, and possible epileptic features.

Unlike tests, the ADI-R is an interview process that focuses on behaviors that are uncommon in individuals not affected by autism. As a result, it yields specific results rather than relying on scales or norms. These results can be used to support a diagnosis of autism or to determine the clinical needs of various groups in which a high prevalence of autism spectrum disorders might be expected. This includes individuals with severe language impairments, certain medical conditions, congenital blindness, or those who have experienced institutional deprivation.

Here is a comprehensive note on autism assessment, screening tools and communicating with parents.

6.8 Revealing the diagnosis to parents

Absolutely, revealing an autism diagnosis to parents is a crucial and sensitive step in the process. It’s essential for professionals to approach this conversation with empathy and provide guidance on the next steps. Here are some suggestions for professionals on how to convey the diagnosis and offer support to parents:

Choose the Right Setting: Find a quiet and private space to discuss the diagnosis, ensuring that you have enough time for the conversation without interruptions.
Empathetic Communication: Start by expressing empathy and understanding. Acknowledge the emotions they may be experiencing, which can include relief, shock, denial, or a range of other feelings.
Provide Information: Explain the diagnosis clearly and in simple terms. Offer educational materials or resources that parents can take home and review at their own pace. This might include brochures, websites, or books.
Answer Questions: Encourage parents to ask questions and address any concerns they may have. Be patient and provide honest, accurate information to the best of your knowledge.
Offer Emotional Support: Let parents know that their feelings are valid and that they are not alone. Mention local or online support groups or organizations where they can connect with other parents in similar situations.
Discuss Treatment and Intervention Options: Depending on the child’s needs, provide information about available treatment and intervention options. This might include therapies like Applied Behavior Analysis (ABA), speech therapy, occupational therapy, and more. Discuss the benefits and potential next steps.
Referrals: If necessary, provide referrals to specialists or service providers who can further assess and assist the child. Explain the roles of these professionals and the importance of early intervention.
Develop a Care Plan: Work together with the parents to create a care plan tailored to their child’s specific needs and strengths. This plan may involve therapies, educational programs, and other services.
Legal and Financial Guidance: Discuss any legal and financial matters, such as eligibility for government programs, insurance coverage, and educational rights, to ensure parents are aware of available resources.
Encourage Advocacy: Encourage parents to become advocates for their child’s needs and rights. Provide information about special education services, Individualized Education Programs (IEPs), and the importance of being involved in their child’s educational journey.
Recommend Reading Materials: Suggest books, articles, or online resources that can help parents better understand autism and learn strategies for supporting their child.
Follow-Up: Schedule a follow-up appointment to check on the family’s progress, address any new questions, and assess how the child is responding to interventions.

Remember that every family’s situation is unique, and the way they react to the diagnosis can vary greatly. Your support, understanding, and guidance can make a significant difference in helping parents navigate this challenging but important phase in their child’s life.

6.9 Diagnosis for adults

Autism Spectrum Disorder is a neurological condition typically identified in childhood, which may raise questions among adults about the possibility of developing autism later in life, particularly if they’ve observed symptoms resembling autism.

Due to the basic nature of the disorder, it is not possible for adults to acquire autism. Autism arises from atypical brain development, and by adulthood, the foundational neurodevelopmental processes are already complete. Thus, it is impossible to develop autism later in life. However, autism symptoms can start to show up/ affect later in life and the diagnosis of Autism can happen late for some individuals due to a variety of reasons:

Masking and Camouflaging: Many individuals, especially those with higher-functioning forms of autism, may develop coping strategies to mask their autism traits and fit in socially. This masking can make it challenging for professionals to recognize the signs of autism.
Gender Differences: Autism is often underdiagnosed in girls and women, as the diagnostic criteria were historically based on male presentations. Girls with autism may exhibit different social and behavioral traits that are less recognizable as typical autism symptoms.
Mild or Subtle Symptoms: Some individuals with autism have milder or subtler symptoms that may not be as noticeable in childhood but become more apparent as social demands increase in adolescence or adulthood.
Co-occurring Conditions: Individuals with autism may have co-occurring conditions, such as anxiety, depression, or attention deficit hyperactivity disorder (ADHD), which can complicate the diagnostic process and delay recognition of autism. They are often secondary conditions that occur when the autism is left untreated. It takes a keen eye and specialist who is well-versed in the nuances of autism to identify autism symptoms in adults.
Late Recognition of Differences: Some families and individuals may not recognize autism traits until later in life, especially if they have limited exposure to autism or were unaware of the spectrum’s diversity.
Change in Life Circumstances: Life transitions, such as moving to a new environment, starting a new job, or entering college, can highlight social and communication challenges, prompting individuals to seek assessment and diagnosis.
Access to Services: Limited access to healthcare or diagnostic services can delay the identification of autism. In some regions, diagnostic resources may be limited, leading to later diagnoses.
Stigma and Misunderstanding: Social stigma or misunderstanding of autism can deter individuals and families from seeking diagnosis or support until later in life. “He/she will start talking when she is 5 or 6 years old. Their uncle/dad also started talking late only. Let’s wait.”

In most cases, it could be a combination of these reasons. The family is not aware of Autism and its symptoms, the child is bright academically and somehow manages to mask the symptoms.

As Samriddhi Malhotra, an individual on the autism spectrum, diagnosed in her 30s, shares: “My family couldn’t understand this because I was considered academically bright. Because of these ‘odd’ behaviours, people would say things like ‘she’s so careless and haphazard’ or ‘she’s lazy’. As an adult, I wouldn’t always understand social cues, the dynamics in a friend circle and the subtext and subtleties of what people say. But, over the years, I learnt to master them almost like a science. Piecing it together logically, like, oh, this is what people mean when they say this or that, and I learnt to adapt.”

6.9.1 Signs to look out for

Symptoms of autism in adults closely resemble those in children, such as difficulties in social situations, obsessive interests, and strict adherence to routines. Key symptoms that are often observed in adults with autism include:

Difficulty understanding other people’s feelings or reactions
Social anxiety
Trouble making and keeping friends
Coming off as brutally honest and not realizing they’re offending others
Not being interested in others’ points of view or feelings
Difficulty expressing how they feel
Interpreting things very literally or in black and white
Stuck in having the same routine every day and being uncomfortable if it is interrupted or threatened to be changed

6.9.2 Diagnostic tools

Since symptoms are not very different from what we observe in a child, the diagnostic process would be more or less similar. In most cases of adolescents, it would be the school that first reports concerns and then with the help of a psychologist one may undergo the diagnostic process. In adults, it could pose some challenges because symptoms of other disorders could be overlapping with autism symptoms. Either ways, a combination of assessments and clinical judgements could be used to diagnose older people. Some tools are:

Autism Diagnostic Observation Schedule (ADOS) - (ADOS; Lord, Rutter, DiLavore, Risi, 1999) The Autism Diagnostic Observation Schedule (ADOS) is considered the ‘gold standard’ for assessing and diagnosing autism and pervasive developmental disorder (PDD) in individuals of all ages, developmental stages, and language abilities.
Autism Diagnostic Interview, Revised (ADI-R) - (ADI-R; Couteur, Lord, Rutter, 2003) The Autism Diagnostic Interview, Revised (ADI-R) is a structured interview employed for the purpose of diagnosing autism, planning treatment strategies, and distinguishing autism from other developmental disorders.

Receiving an autism diagnosis according to a recent study with 9 adults over the age of 50, was seen as a positive development that enabled them to redefine their sense of self and gain a deeper understanding of their unique requirements. Before the diagnosis of autism, they had undergone treatment for anxiety and depression. They also reported experiencing behaviors associated with Autism Spectrum Conditions (ASC) during their childhood and often feeling isolated and aloof from others, growing up.

Although most people feel relief, it may also be accompanied with a feeling of guilt or grief over their life thus far, for they have to redefine themselves and their lifestyle. Therefore, it could be helpful to continue receiving psychological support while processing the diagnosis for themselves.