Autism in young children: An update

Autism in Young Children: n An Update . Rose M. Mays,

PhD,

RN, PNP, and Janet E. Cillon,

MM,

RN, PNP

Autism is a pervasive developmental disorder with onset in infancy or childhood. Research has identified infant/toddler characteristics that should suggest autism to pediatric primary care providers. Many autistic children can be referred for diagnosis as young toddlers if social, perceptual, and language delays are considered significant. Early diagnosis of children with autism allows intervention, which helps the child modulate disturbing sensory stimuli and seeks to meet his/her unique social and communication needs. This article describes the disorder and its management and offers guidelines for recognizing young children who would benefit from further comprehensive neurobiologic evaluations by developmental specialists. J PEDIATR HEALTH CARE. (1993). 7, 17-23.

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arly identification of children with autism is a challenge for primary care providers because of the condition’s complexity, low incidence, and wide spectrum of severity. As a pervasive developmental disorder, autism affects several developmental processes and varies in its presentation. Diagnosis is made only after extensive evaluation by health care professionals who are specially trained in current findings about autism. As with most developmental disabilities, outcomes for children with autism are greatly enhanced if the condition is recognized and interventions are begun early. When intervention begins early, children demonstrate better communication skills, fewer out-of-control behaviors, and their parents develop a greater understanding and acceptance of the disorder. Because pediatric clinicians in primary care settings usually have sustained contact with young children, they are in a key position to suspect the disorder and initiate the diagnostic process. n

OVERVIEW OF AUTISM

Definition

Autism results from a variety of genetic, metabolic, and biochemical conditions that affect the development of the central nervous system. Rather than a single disease it is a syndrome of multiple causes, manifesting itself in infancy or childhood and lasting for the remainder of the person’s life. In the 1980 Diagnostic and Statistical Manual (DSM) of the American Psychiatric AssociaRose M. Mays is an associate professor at Indiana University School of Nursing and an adjunct associate professor in the Department of Pediatrics at Indiana University School of Medicine, Indianapolis, Indiana. Janet E. Cillon is a clinical nurse specialist Center, Indianapolis, Indiana. Reprint requests: Nursing, Indiana 25/l

at the Riley Child

Development

Rose M. Mays, PhD, RN, Associate Professor, School University, 1111 Middle Dr., Indianapolis, IN 46202.

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tion, autism was named as a separate entity from child schizophrenia. The current criteria for autism are found in the DSM III-R (American Psychiatric Association, 1987; Box 1). The criteria include (a) qualitative impairment in reciprocal social interaction, (b) qualitative impairment in verbal and nonverbal communication and in imaginative activity, (c) markedly restricted repertoire of activities and interests, and (d) onset in infancy or childhood. Epidemiology Prevalence. Until very recently autism was considered to be a rare disorder occurring in about 5 of 10,000 births (M&hew & Payton, 1988). Experts in the field now suspect, however, that occurrence of autism may be significantly higher if we count individuals who have mild autism. Also, children with severe social deficits of the autistic type may have been labeled with diagnoses such as nonspecific pervasive developmental disorder or schizoid disorder. If all persons with autistic-like behaviors are considered, the incidence of autism is probably 15 of 10,000 births. In a recent study in Japan, the incidence was 13.6 per 10,000 births (Tanoue, Oda, Asano, & Kawashima, 1988). In fact, the estimate is that today 300,000 persons have autism or autistic conditions in the United States, one third of whom are between infancy and 21 years of age. Persons with autism come from all classes, and most live a normal life span (Seifert, 1990). Sex ratio. Autism has a male to female ratio of 3 to 4 : 1. The reason for the increased occurrence in males of this and other developmental neurologic disorders is unknown. One theory asserts that the predilection for males is related to the differential effect of sex hormones on brain development (M&hew & Payton, 1988). Intelligence. Most autistic children have such severe

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Volume 7, Number 1 January-February 1993

Mays & Gillon

E 80X

1

DIAGNOSTIC

CRITERIA FOR 299dM

AUTiSTlC

DkWRBER

At least eight of the following sixteen items are present, these to include at least two items from A, one from 8, and one from C. NOTE: Consider a criterion to be met only if the behavior is abnormal for the person’s developmental ievet. A. Qualitative impairment in reciprocal social interaction as manifested by the following: (The exam&s within parentheses are arranged so that those first mentioned are more likely to apply to younger or more handicapped and the later ones to older or less handicapped persons with this disorder.) (1) Marked tack of awareness of the existence or feelings of others (e.g., treats a person as if he or she were a piece of furniture; does not notice another person’s distress; apparentty has no concept of the H of others for privacy). (2) No or abnormal seeking of comfort at times of distress (e,g., does not come for comfort evea when ill, hurt, or tired; seeks comfort in a stereotyped way, e.g., says “cheese, cheese, cheese” whenever ho& (3) No or impaired imitation (e.g., does not wave bye-bye; does not copy mother’s domestic activities; mechanical imitation of &en’ actions out of context). (4) No or abnormal social play (e.g., does not actively participate in simple games; prefers solitary play activities; involves other children in play only as “mechanical aids”). (5) Gross impairment in ability to make peer friendships (e.g., no interest in making peer friendships; despite interest in making friends, demonstrates lack of understanding of conventions af social interaction, for exampte, reads phone book to uninterested peer). B. Quatitative impairment in verbal and nonverbal communication and in imaginative activity, as manifested by the foHowing: (The numbered items are arranged so that those first listed are more likely to apply to younger or more handicapped and the later ones, to older or less handicapped persons with this disorder.) (1) No mode of communication, such as communicative babbling, facial expression, gesture, mime, or spoken language. _ (2) Ma&edly abnormal nonverbal communication, as in the use of eye-to-eye gaze, facial expression, body posture, or gestures to initiate or modulate social i’nteraction (e.g., does not anticipate being he& stiffens when held, does not look at the person or smile when making a social approach, does not greet parents or visitors, has a fixed stare in social situations). (3) Absence of imaginative activity, such as playacting of adult roles, fantasy characters, or animals; lack of interest in stories about imaginary events. (4) Marked abnormalities in the production of speech, including volume, pitch, stress, rate, rhythm, and intonation (e.g., monotonous tone, questionlike melody, or high pitch). (5) Marked abnormalities in the form or content of speech, including stereotyped and repetitive use of speech (e.g., immediate echolatia or mechanical repetition of televisii commercial); use of “you” when “I” is meant (e.g., using “You want cookie?” to mean “I want a cookie.“); idiosyncratic use of words or phrases (e.g., “Go on green riding@ to mean “I want to go on the swing”); or frequent irrelevant remarks (e.g., starts talking about train schedules during a conversation about sports). (6) Marked impairment in the ability to initiate or sustain a conversation with others despite adequate speech (e.g., in&l@ng in lengthy monologues on one subject regardless of interjeaions from others). C. Markedly rest&&d repertoire of activities and interests, as manifested by the following: (1) Stereotyped body movements, e.g., hand-flicking or -twisting, spinning, head-banging, complex who&body fWW%lX?nCS.

(2) Persistent preoccupation with parts of objects (e.g., sniffing or smetiEng objects, repetitive feeling of texture of materials, spinning wheels of toy cars) or attachment of unusual objects (e.g., insists on carrying, around a piece of string). (3) Marked distress over changes in trivial aspects of environment, e.g., when a vase is moved from usual position. (4) Unreasonable insistence on following routines in precise detail, e.g,, insisting that exactly the same route always be fiollowed when shopping. (5) Markedly restricted range of interests and a preoccupation with one narrow interest, e.g., interested only in Hning up objects, in amassing facts about met*roiogy, or in pretending to be a fantasy character. III. Onset during In&+nc.y or childhood. Specify if childhood onset (after 36 months of age). 299.80 l%rvadve ~~~~~~~1 Dborder Not otherwise Specified sbkl b used when there is a qualitative impairment in the dev&opment of reciprocal social d of w&al and nonverbal c~~unic~~~ skills, but the crirtspia are n& mrrt for Autistic Die, r&a, or Schizd)rpal or Schizoid res&icted repert&e of activities and interests, but others wiil not. From American Psychiatric Association: Diagnostic and stet&t&z~ manual of mental disorders, Third Edition, Revised. (pp. 38-39). Washington, DC.: American Psychiatric Association, 1987. Reprinted by permission.

Journal of Pediatric Health Care

social and communicative pathologic conditions that they score in the mentally retarded range on standa.rdized tests their entire life. Sixty percent of autistic children have measured IQs below 50; 20% between 50 to 70; and 20% scored 70 or more. However, such standardized tests may not be reflective of the true cognitive abilities of the children. The basic cognitive impairment seems to be in their ability to develop symbolic fimctions; this prevents or delays imitation, symbolic play, ability to draw, and ability to use verbal signs (Seifert, 1990). Prognosis. Adults with autism have a wide range of functional abilities. As adults, persons with autism may vary from individuals who have only “odd” or “eccentric” behavior but who have completed their formal education and are self supporting to those who have profound handicaps in all functional areas and are partially to totally dependent. Children with autism who develop communicative language (more than echolalia) and symbolic play before age 5 years have more favorable functional outcomes as adults (Minshew & Payton, 1988). When their measured IQ is over 50 at the time of initial diagnosis, their prognosis is more hopeful. In general, children who have abnormalities such as a chromosomal abnormality or a disorder that is known to affect the development of the central nervous system in concert with autism have the worst outcome for social, emotional, and cognitive achievements. When they have seizures around the time of puberty, the outcome is generally poorer (Gillberg & Steffenburg, 1987). RECOGNIZING SIGNS AND SYMPTOMS IN EARLY CHILDHOOD Suggestive Symptoms in Young Children

n

In the past autism was not even suspected until a failure to develop speech became apparent. However, recent research on infant development and parent-infant interaction and a retrospective study of the process of diagnosing autism point to a number of developmental signs that may allow much earlier diagnosis and subsequent treatment of the disorder. A summary of these signs is presented in the Table. No single discrete behavior should be over interpreted but should be considered in the context of the whole child. If autism is to be recognized in the young child, social dysfunction and abnormal perceptual responses, rather than motor skills, should be the focus of developmental assessment and observation (Gillberg et al. 1990). For example, Gillberg et al. (1990) found 85% of the 28 children with autism that they studied had relatively good motor skills despite deviations in social and perceptual development. One aspect of early social development that has been studied closely is eye gaze. Many infants have gaze aversion as newborns and appear not to see persons near them (Gillberg & Gillberg, 1983). The eye contact problems of children with autism, which typically occur

Autism

in Young

Children

19

in the first year of life, have a distinctive quality. The infant gazes out of the comer of the eyes briefly and does not show anticipatory movements when about to be picked up. Early Parental Concerns Recognizing autism in early childhood permits timely intervention. Not surprisingly parents are often the first to notice signs of autism in their infants and toddlers. For example, in one sample of mothers with autistic children, 90% said they had suspected unusual development before 12 months of age (Gillberg, 1990). Siegel, Pliner, Eschler and Elliott (1988) reported similar early parental concerns, with experienced parents reporting such concerns, on average, 7 months before first-time parents (13.7 versus 21 months). These pa-

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eviance is the quality that most differentiates the symptoms from those of mental retardation and a number of other conditions such as deafness and emotional disturbance. rental worries typically include reports of abnormal perceptual responses and social-emotional dysfunctions and may also include concerns about motor and language development. Parental concerns about children with autism commonly involve several aspects of development. Therefore, when a parent, especially an experienced parent, presents numerous developmental concerns as early as the first year, the nurse practitioner should consider a potentially severe disability and conduct thorough developmental screening. In spite of early parental suspicion of developmental abnormality, ordinarily, no definitive diagnosis of the disorder is made until the child is much older. In a retrospective analysis of the course of diagnosing the disorder, Siegel et al. (1988) found that physicians referred children for initial diagnosis of autism fully 1 to 2 years after parents suspected a delay, or on average, when the child was 30 months of age. Final diagnosis then was made about 2 years later with the typical child being around 4% years of age. The practice of making a definitive diagnosis of autism as late as the preschool years, in spite of it being suspected much earlier, is understandable given that it is such a rare, complex, and severe disorder. The significance of symptoms of autism in the young child has only recently been recognized by clinicians. Parental denial may further impede prompt follow-through on a recommendation for specialist evaluation even when early symptoms have been noted. Deviance versus Delay If primary care providers who are accustomed to looking for delay can attend more closely to reports or obser-

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Mays

H TABLE

Volume 7, Number 1 January-February 1993

& Gil/on

Early

Signs

Suggestive

of Autism*

vation of deviant behavior earlier, they can refer these children for diagnosis. Deviance is the quality that most differentiates the symptoms of autism from those of mental retardation and a number of other conditions such as deafness and emotional disturbance. This quality of deviance is particularly apparent when assessing the play behavior of a young child with autism. For example, a toddler or preschooler with autism may have relatively normal fine and gross motor development when assessed by screening tests, but abnormalities may be noted in the use of those skills. The child may prefer to play with only hard objects or form odd attachments

to a string, a certain article of clothing, a piece of a toy, or stones. The objects are selected because of some odd quality or texture. The object is usually carried around by the child, and the child will become frantic if it is taken away or lost. The child with autism may spend inordinate amounts of time playing with toys in a nonfunctional manner. He often likes to look at spinning objects like fans or car wheels. To evaluate the quality of a child’s development, the nurse practitioner must be both a keen observer and a careful history taker. In addition to the standard birth and developmental history, parents need to be ques-

Journal of Pediatric Health Care

tioned about the child’s early social responses, communication, and perceptual responses. Examples of questionnaire items that discriminated young children with autism from normal children and those with mental retardation can be found in Box 2 (Dahlgren & Gillberg, 1989). The nurse practitioner who is unfamiliar with the child may attribute difficulties with social interaction in the clinical setting to shyness or anxiety. However, after probing deeper into the history of a child with autism, the nurse practitioner will find that the child does not interact appropriately for the mental age, even with familiar persons. In contrast to the shy child who gives nonverbal cues about his awareness of the nursestranger, the child with autism may either ignore the nurse practitioner or may sit on the nurse practitioner’s lap without warning and commence to play with the practitioner’s face and clothing as if they were objects (Minshew & Payton, 1988). This use of persons as objects is also helpful in differentiating the autistic child from emotionally deprived children who may have social deficits (Dahlgren & Gillberg, 1989). A recent study conducted by Stone, Lemanek, Fishel, Fernandez, and Altemeier (1990) indicates that two reliable early indicators of autism in the early preschool child are deviant play behavior and impaired imitation skills. Motor imitation ability can be assessed during a 5-minute screening by giving several imitation tasks during the office visit. Examples of imitation tasks include asking the child to imitate the building of a tower or train with blocks or to imitate horizontal or vertical strokes on a piece of paper. Failure to use toys in a conventional, functional way can be assessed by observation in the waiting room and by parent report, that is, what does the child do with the toy cars when at play? Inappropriate play is defined as aggressive or selfstimulatory use of a toy. Examples of this sort of play include throwing or persistently lining up toys. Knowing what play materials are available in the child’s environment is also important when trying to determine whether the child has a normal range of interests. n

WHEN AUTISM IS SUSPECTED

If autism is suspected after reviewing the results of the history and developmental assessment, the child should have a thorough physical examination to rule out a medical or neurologic condition that could cause widespread central nervous system involvement (e.g. tuberous sclerosis, neurofibromatosis, fragile X syndrome, Retts syn-

T

o evaluate the quality of a child’s development, the nurse practitioner must be a keen observer and a careful history taker.

Autism

8, The child w&Id. 9. A he&ring 10. The child alorie. 11. The child 12. The child

in Young

did not like to be disturbed

Children

21

in his/her

d&it/deafness was suspected. occupied himself/herself only if left had.an empty gaze. s&ed odd attachments

to odd

13. The child was overex&?d when tickled. 14. The child seemed not to react to cold. 15. There weae days and periods when the child would seem much worse than usual. 16. The ctu”Ld was con@%ed if left alone. 17. The child did ngt attract adults’ attention to 18. The child dii nat smile when one expected.

drome, congenital intrauterine infection, or perinatal asphyxia) (M&hew & Payton, 1988). Rubella embryopathy is also associated with autism (Gillberg et al., 1990). If possible, children with suspected autism should be referred to a team that specializes in such disorders rather than to a series of single evaluations from individual specialists (Siegel et al., 1988). Not only do such children need the evaluation expertise of a variety of disciplines, but the team approach has generally resulted in more accurate diagnosis of the disorder. More importantly perhaps, it is associated with less parental anxiety than the individual approach. Teams of professionals that evaluate children with suspected autism can be found in most academic health science centers. The nurse practitioner must keep in mind that early intervention programming in the 0 to 3 -year age group can be instituted before a definitive diagnosis is made. Any child with a developmental delay or abnormal behavior can and should receive services. Therefore, a young child with developmental deficits who is suspected of having autism should be simultaneously re-

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Mays

Volume 7, Number 1 January-February 1993

& Gillon

ferred for both early intervention services and a diagnostic evaluation. Should the child not immediately receive a definitive diagnosis of the developmental problem afier evaluation by a team of specialists, the child most likely will be followed and diagnosed later. In this interim period between referral and definitive diagnosis, (which, again, may be as long as 2 years) valuable time is not lost because the child will receive the benefit of developmental services. Young children with autism who enter early intervention programs designed to meet their unique needs can look forward to gains in all developmental domains. Each child should have an individually designed and implemented program staffed by a teacher and support personnel who have received training in autism. The program staff should be informed if autism is suspected ‘or diagnosed because programming for children with autism differs from that for children with other types of disabilities. For example, children with autism often respond poorly to social rewards like praise and must be motivated with more primary reinforcers like food (Siegel et al., 1988).

Y

oung children with autism who enter early intervention programs designed to meet their unique needs can look forward to gains in all developmental domains.

Children with autism should have available the services of an occupational therapist, physical therapist, speech/language therapist, and special educator. The program should also integrate the parent as a co-therapist (Coleman, 1989). Critical factors in successfU1programs for autistic children appear to be (a) structured behavioral treatment, (b) parents involved and taught skills for teaching their own children, (c) treatment begun before 3% years of age, (d) a year-round, 5-day-aweek program that parents also implement fully at home, and (e) specific steps planned to generalize skills to new settings (Simeonsson, Olley, & Rosenthal, 1987). In general, young children with autism in appropriate intervention programs should need no antidepressants or anxiolytics. Stress-related anxiety can be reduced in autistic children with concrete explanations of changes and development of concrete coping strategies. Indication for an anxiolytic medication might be a family move, parental separation/ divorce, or other disruption in the household. No drugs are available that improve the core symptoms of autism. Stimulants fail to decrease the hyperactivity associated with autism, but anticonv&ants are used when the child has seizures.

n

PARENT

SUPPORT

Because autism is relatively rare and yet such a pervasive disability, parents need special support. They need autism experts (both parent and professional) for consultation. They also need a source of up-to-date written information. Once the diagnosis is established, the parents should be referred to the National Society for Autistic Children (NSAC), 1234 Massachusetts Ave., NW, Suite 1017, Washington, DC 20005, (202) 783-0125, and a local autism resource center if available. With appropriate help parents learn how the child reads cues in the world around him or her, which helps them to parent in a positive, constructive mode. With more information parents are more accepting of the disability, hence family functioning improves. n

SUMMARY

Autism is known to be a developmental disability that is a syndrome of multiple causes that produces a distinctive range of problems to the function of the individual. The problems may be mild to severe and to some extent are life-long. In recent years more has been learned about the handicaps associated with autism. Early intervention improves long-term function. A nurse practitioner in pediatric primary care is in a key position to detect deviant imitation and play behavior and disordered communication and to refer the family for specialized diagnostic services and early intervention programming. n

REFERENCES American Psychiatric Association. (1987). Diapxtzc and statistical manual of Mtal d&rerS (3rd ed.). Washington, DC: author. Coleman, M. (1989). Young children with autism or autistic like behavior. Infants and Young Children, 1, 22-3 1. Dahlgren, SO., & Gillberg, C. (1989). Symptoms in the first two years of life: A preliminary population study of infantile autism. European Archives of P@why and Neurological Sciences,238, 169174. Gillberg, C. (1990). Autism and pervasive developmental disorders. Journal ofPsychology and P.ycbiahy, 31, 99-119. Gillberg, C., Ehlers, S., Schaumann, H., Jakobsson, G., Dahlgren, S., Lindblom, R., Bagenholm, A., Tjuus, T., & Blidner, E. (1990). Autism under age 3 years: A clinical study of 28 casesreferred for autistic symptoms in infancy. Journul of Pycbology and Pg&aty, 31, 921-934. Gillberg, C., & Gillberg, I.C. (1983). Infantile autism: A total population study of reduced optimality in the pre-, peri-, and neonatal period. Journal of Autiwn and Developmental Diwrdm, 13, 153166. Gillberg, C., & Steffenburg, S. (1987). Outcome and prognostic factors in infantile autism and similar conditions: A populationbased study of 46 casesfollowed through puberty. Jaurnul ofAutk and Developmental Dimrdm, 17, 273-287. Kalmanson, B., & Pekarsky, J. (1987). Infant-parent psychotherapy with an autistic toddler. 2~0 to Thee, 1, l-6.

Journal of Pediatric Health Care

Autism

Minshew, N., & Payton, J. (1988). New perspectives in autism, part two: The differential diagnosis and neurobiology of autism. Current Problem in Ped&riq 18, 613-694. Seifert, C. (1990). Z’hewies of autism. New York: University Press of America. Siegel, B., Pliner, C., Eschler, J., & Elliott, G. (1988). How children with autism are diagnosed: Difficulties in identification of children with multiple developmental delays. Developmental and Behavimal Pedh&s, 9, 199-204. Simeonsson, R., OUey, J., &Rosenthal, S. (1987). Early intervention for children with autism. In M. J. Guralnick & F.C. Bennett (Eds.), The e@tiv~ of early intervention fw at-risk and handicapped CMdren (pp 275-296). Orlando: Academic Press, Inc. Stone, W., Lemanek, K., Fishel, P., Fernandez, M., & Altemeier, W. (1990). Play and imitation skills in the diagnosis of autism in young children. Pediatrh, 86, 267-272. Tanoue, Y., Oda, S., Asano, F., & Kawashima, K. (1988). Epidemiology of infantile autism in southern Ibaraki, Japan: Differences in prevalence rates in birth cohorts. Joumul ofAutism and Develqmmml D~orders, 18, 155-166.

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