Clinical Presentation
Signs and Symptoms
Autism Spectrum Disorder_Initial Assesement 1Deficit in Social Skills
Individuals with autism spectrum disorder (ASD) commonly experience social skill deficits, such as abnormal eye contact, failure to orient to their name, and failure in using gestures to point of show. They often display a lack of interactive play or failure to make appropriate social smiles, a lack of sharing emotion or interest, and a lack of interest in other children. They are often withdrawn and spend hours in solitary play with restrictive or repetitive interests and behaviors.
Impaired Social Interaction
There is impairment in joint attention (ability to use eye contact and pointing for the purpose of sharing experiences with others); deficits in empathy for what another person might be feeling; and deficits in understanding what another person might be thinking.
Deficit in Language and Communication
Nonverbal communication in these individuals ranges from minimal vocalization to having some speech (eg capable of imitating songs, rhymes, or television commercials). They have odd prosody or intonation of speech, echolalia, pronoun reversal, nonsense rhyming, and other idiosyncratic language forms.
Aberrant Play Skills
Play skills affected include little symbolic play, ritualistic and rigid behavior, the need to maintain a consistent, predictable environment, tantrum-like rages when routines are disturbed, and preoccupation with parts of objects.
Restricted, Repetitive Behaviors, Interests, or Activities
Autism Spectrum Disorder_Initial Assesement 2Individuals with autism spectrum disorder have stereotyped or repetitive motor movements (eg lining up objects, flipping objects); insistence on sameness; inflexible adherence to routines or other rituals; and highly restricted, fixated interests.
Variations in Intellectual Functioning
They have mental retardation but superior intellectual functioning in select areas (splinter skills, savant behavior). They also have typical development in certain skills, and they can even show strength in specific areas, such as puzzles, art, or music.
Heightened Awareness to Stimuli
They have visual scanning of the hand and finger movements, mouthing of objects, and rubbing of surfaces.
Lowered Sensitivity to Stimuli
These individuals have diminished response to pain and a lack of startle response to sudden loud noises.
History
During history taking, assess the patient’s developmental (eg language delay), behavioral (eg repetitive patterns, intolerance to change), social (eg communication, interaction), emotional (eg temper tantrums), and cognitive functioning. Note also for the timing of clinical presentation, past medical and family history.
Physical Examination
Assess for growth parameters (eg head circumference) or any dysmorphic features or skin manifestations of neurocutaneous disorders. Neurologic examination should also be done with a focus on motor abnormalities (eg coordination, muscle tone) and reflexes. Hearing and vision tests should also be evaluated.
Diagnosis or Diagnostic Criteria
The diagnosis of autism spectrum disorder should rely on the holistic profile of the child, including developmental, medical, and social history; physical examination; and consideration of differential diagnoses and coexisting conditions, cognitive, sensory, academic, and adaptive behavior profiles, strengths, skills, and needs to facilitate management plans together with autism-specific diagnostic instruments.
Diagnostic Criteria
According to the DSM-5-TR criteria, autism spectrum disorder is diagnosed as having the characteristic symptoms of:
- Persistent social communication and interaction
deficits that are manifested either previously or currently by all of the
following deficits in:
- Social-emotional reciprocity that may range, for example, from abnormal social approach and unsuccessful normal back-and-forth conversation to decreased sharing of interests, emotions, or affect to inability to initiate or respond to social interactions
- Non-verbal communicative behaviors that are used for social interaction
exemplified by:
- Verbal and nonverbal communication that are poorly integrated
- Abnormal eye contact and body language
- Lack of understanding and use of gestures
- Absence of facial expressions and non-verbal communication
- Developing, maintaining, and understanding relationships seen
as:
- Difficulty in adjusting behavior that fits various social settings
- Difficulty in sharing imaginative play or in making friends
- Lack of interest in other people
- Restricted, repetitive behaviors, interests, or activities that are demonstrated by ≥2 of the following symptoms
observed either previously or currently:
- Motor movements, use of objects, or speech is stereotyped or repetitive (eg motor stereotypes, echolalia, ordering of toys or flipping objects, or idiosyncratic phrases)
- Insists on adherence to routines, sameness, or ritualized patterns of verbal or non-verbal behavior such as showing frustration at small changes, hard-to-deal-with transitions, rigid thinking patterns, rituals in greeting, taking the same route, or eating the same food every day
- Abnormal strength or focus on highly restricted or fixated interests like being deeply preoccupied or attached to unusual objects, having excessively circumscribed or perseverative interests
- Heightened or diminished response to sensory input or unusual interest in the sensory aspects of the environment, such as having apparent indifference to pain or temperature, responding adversely to particular sound or texture, frequent smelling or touching of objects, or visual fascination with lights or movement
The severity of the above symptoms will be based on impairments in social communication and restricted, repetitive patterns of behavior. The above symptoms must be present from early childhood; however, they may not be fully evident until social demands exceed limited capacities or may be masked by learned strategies as the child ages. The above symptoms bring about significant impairment in function (eg social, occupational, or other important areas of functioning). The disturbances are not due to intellectual disability or global developmental delay.
Usually, autism spectrum disorder and intellectual disability co-occur, and it is diagnosed as comorbid if there is the presence of social communication that is below expected for the general developmental level. An ASD diagnosis is given to individuals with a well-established DSM-4 diagnosis of autistic disorder, Asperger’s disorder, or pervasive developmental disorder that is not otherwise specified. For individuals that do not meet the criteria for autism spectrum disorder but have marked deficits in social communication, should be evaluated for social communication disorder.
Also, according to DSM-5-TR, specify if autism spectrum disorder has:
- Presence or absence of accompanying intellectual impairment
- Presence or absence of accompanying language impairment
- Associated with a known genetic or medical condition or environmental factor
- Associated with another neurodevelopmental, behavioral, or mental disorder
- Catatonia
Screening
Developmental Screening and Surveillance
All children should undergo routine developmental screening during a well-child visit. Close surveillance is recommended in children with the following factors that put them at high risk for autism spectrum disorder:
- Symptoms of autism present
- A sibling or first-degree relatives diagnosed with autism spectrum disorder
- A genetic condition with known ASD risk (eg Fragile X syndrome, Angelman syndrome, tuberous sclerosis, Rett syndrome, PTEN hamartoma syndrome, Down syndrome)
- History of prematurity (<35 weeks’ gestation or birth weight <2,500 g), prenatal exposures (eg maternal antiepileptic medication), or neonatal hypoxic encephalopathy
- Born to mothers with advanced age at time of birth (>40 years of age)
- Parental history of mental health disease
Identify patients at risk of any developmental problems, among whom patients at risk of autism should be identified. Screening should include autism spectrum disorder, language delay, learning difficulties, social problems, anxiety, or depression. Check for developmental disorders at 9 months, 18 months, and 30 months, and for possible ASD at 18th- and 24th-month visits. Developmental screening tools are available for the pediatrician’s use, such as the Ages and Stages Questionnaire, Child Development Inventories, and Parent’s Evaluations of Developmental Status.
Developmental language milestones appropriate for age should be assessed, such as:
- Babbling by 12 months
- Appropriate gesture to point and show by 12 months
- Single words by 16 months
- Spontaneous two-word phrases by 24 months
- Decline of language and social skills at any age
Milestones that are inappropriate for the child’s age should warrant further evaluation. Formal audiologic assessment and lead screening are recommended in children with developmental delays, especially those with social and language delays, and those who remain in the oral-motor stage of play for a prolonged period of time. Surveillance by healthcare providers is recommended during every well-child visit. Screening for any abnormal socio-emotional-developmental delay, any odd repetitive behavior in the developmental screening, or failure of joint attention or the use of the Checklist for Autism in Toddlers (CHAT) may be considered so that some high-functioning autism or Asperger syndrome will not be missed.
Screening Tools for Autism Spectrum Disorder (ASD)
Screening for autism should be done on all patients failing developmental screening tests, those with parental concerns, or if there are questionable behaviors observed during patient consult.
Checklist for Autism in Toddlers (CHAT)
The Checklist for Autism in Toddlers (CHAT) is for 18-month-old children. This is highly specific but less sensitive to milder symptoms and may be used to detect clinical features of autistic disorder in young children but is not intended for ruling out autism.
Early Screening for Autistic Traits (ESAT)
Early Screening for Autistic Traits (ESAT) is a screening tool containing 14 questions answerable by yes or no and can be used for children 14-15 months old. This includes screening for early signs and symptoms of ASD (eg attention, eye contact).
Infant Toddler Checklist (ITC)
The Infant Toddler Checklist (ITC) is a 24-item questionnaire, which is a component of the Communication and Symbolic Behavior Scales Developmental Profile (CSBS-DP). This is used to screen for communication delays in children age 6-24 months.
Modified Checklist for Autism in Toddlers (M-CHAT)
The Modified Checklist for Autism in Toddlers (M-CHAT) is a 23-item questionnaire regarding the child’s behavior. The parent report version of CHAT is a part of surveillance. This is used for children 16-30 months of age; for 18-month-old to early identify autism; and for 24-month-old children for identification of regression among toddlers. Like CHAT, this is also used to detect clinical features of autism spectrum disorder but is not intended for ruling out autism. The revised version of this tool, called Modified Checklist for Autism in Toddlers, Revised with Follow-up (M-CHAT-R/F) contains fewer questions, simplified scoring but with improved positive predictive value.
Parent’s Observations of Social Interactions (POSI)
Parent’s Observations of Social Interactions (POSI) is a 7-item caregiver-report screening tool for autism spectrum disorder used in children 16-35 months of age.
Screening Tool for Autism in Toddlers and Young Children (STAT)
The Screening Tool for Autism in Toddlers and Young Children (STAT) is a clinician-directed, interactive, and observational measure that is used for screening in children aged 24-36 months old. This consists of a 20-minute-long play-based session wherein 12 activities in four domains (play, requesting, directing attention, and motor imitation) are evaluated.
Social Communication Questionnaire (SCQ)
The Social Communication Questionnaire (SCQ) is formerly known as the Autism Screening Questionnaire. This is a parent-rated questionnaire containing 40 items. This is for children 4 years and older. A child's social interaction, communication, language, and stereotypic behaviors are evaluated.
Diagnostic Tools
The diagnostic tools should at least have moderate sensitivity and good specificity. This includes an interview with the parents and direct observation of the patient.
Parental Interviews
Parental interviews should be standardized with regard to present concern and history of behavior. The following diagnostic tools may be used: Gillian Autism Rating Scale; Parent Interview for Autism; Pervasive Developmental Disorders Screening Test - Stage 3; Autism Diagnostic Interview-Revised (ADI-R); Diagnostic Interview for Social and Communication Disorders (DISCO); and Developmental, Dimensional, and Diagnostic Interview (3di).
Direct Observation
Autism Spectrum Disorder_Initial Assesement 3
Direct observation is a structured observation of the social and communication skills of the patient. The following diagnostic tools may be used: Childhood Autism Rating Scale 2nd edition (CARS-2); Screening Tool for Autism in Two-Year-Olds; and Autism Diagnostic Observation Schedule-2nd edition (ADOS-2).
