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      Drugs & Diseases > Pediatrics: Developmental and Behavioral Articles

      Autism Spectrum Disorder Clinical Presentation

      Updated: Dec 08, 2021
      • Author: James Robert Brasic, MD, MPH, MS, MA; Chief Editor: Caroly Pataki, MD  more...
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      Presentation

      History

      Behavioral and developmental features that suggest ASD [1]  include the following:

      • Developmental regression

      • Absence of protodeclarative pointing

      • Abnormal reactions to environmental stimuli

      • Abnormal social interactions

      • Absence of symbolic play

      • Repetitive and stereotyped behavior

      Developmental regression

      Between 13% and 48% of people with ASD have apparently normal development until age 15-30 months, when they lose verbal and nonverbal communication skills. These individuals may have an innate vulnerability to develop ASD. Although regression may be precipitated by an environmental event (eg, immune or toxic exposures), it may result from a combinatiion of epigenetic vulnerabilities and environmental events.

      Protodeclarative pointing

      Protodeclarative pointing is the use of the index finger to indicate an item of interest to another person. Toddlers typically learn to use protodeclarative pointing to communicate their concern for an object to others. The absence of this behavior is predictive of a later diagnosis of ASD. [123, 124]

      The presence of protodeclarative pointing can be assessed by interview of the parent or caregiver. Screening questions include "Does your child ever use his or her index finger to point, to indicate interest in something?" A negative response to this question suggests the need for a specialized assessment for possible ASD.

      Environmental stimuli

      In contrast to toddlers with delayed or normal development, toddlers with ASD are much more interested in geometric patterns. Toddlers who prefer dynamic geometric patterns to participating in physical activities such as dance merit referral for evaluation for possible ASD.

      Parents of children with ASD report unusual responses to environmental stimuli, including excessive reaction or an unexpected lack of reaction to sensory input. Certain sounds (eg, vacuum cleaners or motorcycles) may elicit incessant screaming. Playing a radio, stereo, or television at a loud level may appear to produce hyperacusis, a condition in which ordinary sounds produce excessive auditory stimulation of a painful magnitude. Sometimes parents must rearrange the family routine so that the child is absent during noisy housekeeping activities.

      Children with ASD may also display exaggerated responses or rage to everyday sensory stimuli, such as bright lights or touching.

      Social interactions

      Individuals with ASD may display a lack of appropriate interaction with family members. [125] Moreover, difficulties in social interactions are common. Children may have problems making friends and understanding the social intentions of other children and may instead show attachments to objects not normally considered child oriented. Although children with ASD may want to have friendships with other children, their actions may actually drive away these potential companions. They may also exhibit inappropriate friendliness and lack of awareness of personal space.

      Isolation likely increases in adolescence and young adulthood. Interviews with a representative sample of 725 youths with ASD (mean age 19.2 y) determined that the majority had not in the preceding year gotten together with friends or even spoken with a friend on the telephone. [126]

      High pain threshold

      An absence of typical responses to pain and physical injury may also be noted. Rather than crying and running to a parent when cut or bruised, the child may display no change in behavior. Sometimes, parents do not realize that a child with autism sepctrum disorder is hurt until they observe the lesion. Parents often report that they need to ask the child if something is wrong when the child's mood changes, and may need to examine the child's body to detect injury.

      Language

      Speech abnormalities are common. They take the form of language delays and deviations. Pronominal reversals are common, including saying "you" instead of "I." Some speech habits, such as repeating words and sentences after someone else says them, using language only the child understands, or saying things whose meaning is not clear, may occur not only in ASD but in other disorders as well.

      Play

      Baron-Cohen and colleagues demonstrated that the absence of symbolic play in infants and toddlers is highly predictive of a later diagnosis of ASD. [123, 124, 1] Therefore, screening for the presence of symbolic play is a key component of the routine assessment of well babies. The absence of normal pretend play indicates the need for referral for specialized developmental assessment for autism spectrum disorder and other developmental disabilities.

      Odd play may take the form of interest in parts of objects instead of functional uses of the whole object. For example, a child with ASD may enjoy repeatedly spinning a wheel of a car instead of moving the entire car on the ground in a functional manner. [125]

      Observation of the signs of ASD in young children [127] is an indication for referral for specialized diagnostic and therapeutic interventions.

      Children with ASD may enjoy repeatedly lining up objects or dropping objects from a particular height. They may also be fascinated with items that are not typical toys, such as pieces of string, and may enjoy hoarding rubber bands, paper clips, and pieces of paper. In addition, children with ASD may spend hours watching traffic lights, fans, and running water. Some parents report that they must lock the bathroom door to prevent the child from flushing the toilet all day long.

      Response to febrile illnesses

      Children with ASD may be particularly vulnerable to develop infections and febrile illnesses due to immunologic problems. By seeking pediatric intervention promptly at the onset of infections and febrile illnesses, parents may be able to abort sequelae of chronic infections.

      During a febrile illness, children with ASD may show a decrease in behavioral abnormalities that plague the parents when the child is well (eg, self-injurious behaviors, aggression toward others, property destruction, temper tantrums, hyperactivity).

      This inhibition of negative behaviors may occur with various febrile illnesses, including ear infections, upper respiratory tract infections, and childhood illnesses. (A parent may say, "When he is suddenly an angel, I know that he has an ear infection.") The recovery of the child from the febrile illness may be accompanied by an abrupt return of the child's usual problematic behaviors.

      Autism Screening Checklist

      Having parents fill out the Autism Screening Checklist can identify children who merit further assessment for possible ASD. See the image below for a printable version of the checklist.

      The significance of answers to individual Autism S The significance of answers to individual Autism Screening Checklist items is as follows: Item 1- A "yes" occurs in healthy children and children with some pervasive developmental disorders; a "no" occurs in children with autism, Rett syndrome, and other developmental disorders. Item 2 - A "yes" occurs in healthy children, not children with autism. Item 3 - A "yes" occurs in healthy children and children with Asperger syndrome (ie, high-functioning autism); a "no" occurs in children with Rett syndrome; children with autism may elicit a "yes" or a "no"; some children with autism never speak; some children with autism may develop speech normally and then experience a regression with the loss of speech. Item 4 - A "yes" occurs in healthy children and children with Asperger syndrome and some other pervasive developmental disorders; a "no" occurs in children with developmental disorders; children with autism may elicit a "yes" or a "no." Items 5-10 - Scores of "yes" occur in some children with autism and in children with other disorders. Item 11 – A "yes" occurs in healthy children; a "no" occurs in some children with autism and in children with other disorders. Items 12, 13 - Scores of "yes" occur in some children with autism and in children with other disorders. Items 14-19 - Scores of "yes" occur in children with schizophrenia and other disorders, not in children with autism, Asperger syndrome, or other autism spectrum disorders. The higher the total score for items 5-10, 12, and 13 on the Autism Screening Checklist, the more likely the presence of an autism spectrum disorder.
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      The significance of answers to individual Autism Screening Checklist items is as follows:

      • Item 1- A "yes" occurs in healthy children and children with some pervasive developmental disorders; a "no" occurs in children with ASD and other developmental disorders

      • Item 2 - A "yes" occurs in healthy children, not children with ASD

      • Item 3 - A "yes" occurs in healthy children and children with Asperger syndrome (ie, high-functioning ASD); children with ASD may elicit a “yes” or a "no"; some children with ASD never speak; some children with ASD may develop speech normally and then experience a regression with the loss of speech

      • Item 4 - A "yes" occurs in healthy children and children with Asperger syndrome (ie, high-functioning ASD); a "no" occurs in children with developmental disorders; children with ASD may elicit a "yes" or a "no"

      • Items 5-10 - Scores of "yes" occur in some children with ASD.

      • Item 11 – A "yes" occurs in healthy children; a "no" occurs in some children with ASD.

      • Items 12, 13 - Scores of "yes" occur in some children with ASD.

      • Items 14-19 - Scores of "yes" occur in children with schizophrenia and other disorders, not in children with ASD.

      The higher the total score for items 5-10, 12, and 13 on the Autism screening checklist, the more likely that an ASD is present.

      Next:

      Physical Examination

      Screening

      Screening well babies for signs predictive of autism spectrum disorder is important. [1] Baron-Cohen and colleagues observed that abnormalities in pretend play, gaze monitoring, and protodeclarative pointing noted in toddlers during well-child visits in the United Kingdom were useful in predicting the later diagnosis of ASD. [123, 124]

      Baron-Cohen and colleagues developed a set of valid and reliable tools to screen for ASD over the lifespan, [128] including the Checklist for Autism in Toddlers (CHAT) and its revisions, the Modified CHAT (MCHAT) and the Quantitative CHAT (QCHAT), for newborns and toddlers, [123, 124, 129] as well as the Autism-Spectrum Quotient (AQ), for children, [130] adolescents, [131] and adults. [132] The possible cultural limitations of these tools in different ethnic groups in various geographic regions remain to be demonstrated.

      Pretend play

      In screening for the presence of symbolic play, other make-believe play may be substituted based on cultural relevance. The child should respond appropriately to a pretend activity compared with most other children of the same culture.

      Gaze monitoring

      The assessment of normal gaze monitoring, suggested by Baron-Cohen and colleagues, consists of the following steps: (1) the clinician calls the child's name, points to a toy on the other side of the room, and says, "Oh look! There's a [name a toy]!"; [123, 124] (2) if the child looks across the room to see the item indicated by the clinician, then a joint attention is established, indicating normal gaze monitoring.

      Protodeclarative pointing

      Baron-Cohen and colleagues established the following protocol to assess for the presence of protodeclarative pointing:

      • Say to the child, “Where's the light?” or “Show me the light”

      • A normal response is for the child to point with his or her index finger at the light while looking up at the clinician's face [123, 124]

      • If the child does not respond appropriately, the procedure may be repeated with a teddy bear or any other unreachable object

      Executive function

      Deficits in executive function have been generally observed in people with ASD. [133]

      Body movement

      Clumsiness, awkward walk, and abnormal motor movements are characteristic features of ASD. Manifestations of attention deficit hyperactivity disorder that are very often associated with ASD include hyperkinesis and stereotypies.

      Common abnormal motor movements in children with ASD include hand flapping, in which the upper extremity is rapidly raised and lowered with a flaccid wrist so that the hand flaps like a flag in the wind. Hand flapping typically occurs when the child is happy or excited. It may occur in combination with movement of the entire body, such as bouncing (ie, jumping up and down) and rotating (ie, constantly spinning around a vertical axis in the midline of the body).

      Children with ASD also often display motor tics and are unable to remain still. Because children with ASD are often intellectually impaired and nonverbal, expressing subjective experiences associated with the movement is often impossible for them. Thus, the diagnosis of akathisia cannot be applied in these cases, because this diagnosis requires the verbalization of a sensation of inner restlessness and an urge to move.

      Head and hand features

      Aberrant palmar creases and other dermatoglyphic anomalies are more common in children with ASD.

      Although the head circumference of children with ASD may be small at birth, many children with autism spectrum disorder experience a rapid increase in the rate of growth from age 6 months to 2 years. [4] The head circumference is increased in a subgroup of approximately one fifth of the population of children with ASD without known comorbid conditions. [134] Increased head circumference is more common in boys and is associated with poor adaptive behavior. The head circumference may return to normal in adolescence. [5]

      Movement assessment

      Patients with ASD merit a careful assessment of movements. The caregiver and clinicians may be asked whether the patient shows any unusual motions in the mouth, face, hands, or feet and, if so, may be asked to describe them and how they bother the patient.

      The patient may be asked to sit on the chair with legs slightly apart, feet flat on the floor, and hands hanging supported between the legs or hanging over the knees. The patient may be asked to open his or her mouth and then twice to stick out the tongue.

      If the subject does not perform the requested action, the examiner then repeatedly performs the actions in the direct view of the subject to demonstrate the desired actions.

      The patient may be asked to sit, stand, and lie on a sheet on the floor for 2 minutes in each position and to remain motionless while in each posture. In each position, the patient is asked, "Do you have a sensation of inner restlessness?" and "Do you have the urge to move?" These questions require an appropriate developmental level for a useful response. Therefore, most children with ASD cannot respond appropriately.

      In the absence of a clear verbal response, the subjective items are not rated. Nevertheless, the objective behavior of the child can be observed and rated.

      Assessing stereotypies

      Movements observed in individuals with ASD are frequently classified as stereotypies (eg, purposeless, repetitive, patterned motions, postures, and sounds). Stereotypies are divided into the following 3 topologic classes:

      • Orofacial - Eg, tongue, mouth, and facial movements; smelling; and sniffing and other sounds

      • Extremity - Eg, hand, finger, toe, and leg

      • Head and trunk - Eg, rolling, tilting, or banging of the head, and rocking of the body

      Stereotypies occur in infants with ASD and in children with mental retardation. Regular assessment of stereotypies is a valuable practice because stereotypies may bother other people and interfere with performance at school, work, and home. Routine assessment of stereotypies before, during, and after treatment is valuable in determining the effects of interventions.

      Stereotypies are assessed for clinical purposes through regular use of the Timed Stereotypies Rating Scale. For this procedure, the occurrence of stereotypies is noted during 30-second intervals over a 10-minute period. For additional information about the rating of stereotypies, please see Tardive Dyskinesia.

      Self-injurious behaviors

      A particularly serious form of stereotypy is self-injurious behavior. Self-injury may take any of the following forms:

      • Picking at the skin

      • Self-biting

      • Head punching and slapping

      • Head-to-object and body-to-object banging

      • Body punching and slapping

      • Poking the eye, the anus, and other body parts

      • Lip chewing

      • Removal of hair and nails

      • Teeth banging

      Self-injury can result in morbidity and mortality. For example, eye poking and head banging may cause retinal detachments resulting in blindness. Although only a minority of the population of children with ASD manifest self-injury, they constitute some of the most challenging patients in developmental pediatrics.

      Physical abuse

      Children with ASD and related conditions may persist incessantly with repetitive behaviors that annoy others, despite instructions to cease. Children with ASD typically do not respond to spanking and other forms of traditional discipline. Parents, teachers, and others may eventually lose control and inflict physical injury on the child.

      For this reason, children with ASD are at high risk for physical abuse; in addition, when physical abuse occurs, these children may not report it. Therefore, pediatricians and other healthcare providers must maintain a high level of suspicion for the possibility of physical abuse when assessing children with ASD and must conduct regular, careful physical examinations.

      Sexual abuse

      Unlike many other children with mental retardation, children with ASD are typically physically normal in appearance, without dysmorphic features. They may be beautiful children and, thus, may attract the interest of those who are sexually aroused by children. Children with ASD may lack ability to communicate inappropriate sexual contact to responsible authorities.

      Thus, parents, teachers, health-care providers, and others must maintain a high level of suspicion for the possibility of sexual abuse when assessing children with ASD. On physical examination, external examination of genitalia is appropriate. If bruises and other evidence of trauma are present, then pelvic and rectal examinations may be indicated.

      Examination of siblings

      Siblings of children with ASD are at risk for developing traits of autism spectrum disorder and even a full-blown diagnosis of ASD. A tenth of the siblings of children with ASD meet the diagnostic criteria for ASD. An additional fifth of siblings of children with ASD have delayed development of language. [59] Screening should be performed not only for autism-related symptoms but also for language delays, learning difficulties, social problems, and anxiety or depressive symptoms. [3]  The American College of Medical Genetics and Genomics identified the risks of a siblings developing ASD as 4% if the proband is male, 7% if the proband is female, and greater than or equal to 30% if there are two or more affected children. [135]

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