CHALLENGING CASE: DEVELOPMENTAL DELAYS AND REGRESSIONS

Expressive Language Delay in a Toddler*

CASE recognition of language delay remains the most elu- Shelly is a 20-month-old white female whose par- sive for child care clinicians. Compared with motor ents thought she was in excellent general health and social-adaptive skills, language acquisition mon- when she came to her pediatrician for a health su- itoring in pediatric practice is challenging for at least pervision visit. A developmental survey consisting two reasons: (1) The clinician is often dependent on of focused questions revealed that Shelly spoke only historical information from a parent or other care- occasionally with a vocabulary limited to five words. giver, especially in the first 3 years of life when a Although motor and social skills were age-appropri- toddler’s speech output in an office setting may be ate, verbal expressions typically consisted of nonin- limited. In this age group, an assessment of walking telligable utterances and frequent pointing to objects. skills, pincer grasp, and block building is relatively She occasionally chatters “as if she had her own easy to accomplish compared with a successful sur- language.” Shelly reportedly responds to directions vey of expressive and receptive language; and (2) the appropriately, and she appears to hear normal hu- normal range of language skill acquisition between 1 man voices, music, and a telephone ring. and 3 years of age is broad and is affected by a Shelly has been in home day care since 10 months variety of biological and environmental factors. of age when her mother returned to work. With four The case of Shelly represents a common diagnostic other toddlers, she is cared for by a Spanish-speaking and therapeutic problem in primary care practice: a caretaker; her parents speak English at home. She is toddler with an isolated delay in expressive lan- the only child in her family; her parents remarked guage development. that they each had a sibling whose early language Pediatricians with different perspectives on the acquisition was delayed but as adults did not seem initial clinical approach to this case have been invited language impaired. to comment. Using a similar database, their clinical Shelly’s prenatal course was complicated by pre- construction of Shelly’s language delay varies in im- mature contractions treated from 30 weeks gestation portant ways that yield different diagnostic recom- with terbutaline. She was delivered at term by a mendations. spontaneous vaginal delivery without complications. Dr. Steven Parker is an Associate Professor of Apgar scores were 8 at 1 minute and 9 at 5 minutes. On physical examination, Shelly appeared robust. Pediatrics at the Boston University School of Medi- Social and visual engagement occurred easily with cine. As Director of the Division of Developmental her mother and the examiner. Growth parameters and Behavioral Pediatrics at Boston City Hospital, were at the 50th percentile. The examination was Dr. Parker’s work focuses on the care of urban, inner- normal, including her tympanic membranes (normal city children. He is the coauthor of a comprehensive appearance and compliance), palate, pharynx, facial handbook on behavioral and developmental prob- structure, and neurological assessment. Gross and lems seen in primary care pediatrics. (See book re- fine motor skills were documented at the 20- to 24- view in this issue on page 376.) month level. She responded to commands given by Dr. James Coplan is an Associate Professor in the her mother and the examiner. She was able to point Department of Pediatrics at State University of New to pictures of objects on request and correctly York in Syracuse. He is a developmental pediatrician pointed to three body parts. When asked to “go get with a specific interest in early childhood language your shoes and sit down,” she completed the task development. He developed a widely used screening after the second request. Throughout the interview instrument known as the Early Language Milestone and examination, Shelly did not say any specific Scale. words. However, she pointed to a toy and doll she Dr. Heidi Feldman is an Associate Professor of wanted during a play situation. Pediatrics in the Department of Pediatrics at the Uni- versity of Pittsburgh School of Medicine. She is a Dr. Martin Stein developmental pediatrician who also completed a Developmental assessment constitutes the founda- doctorate degree in developmental psychology. Dr. tion of pediatric health supervision. Among the ma- Feldman directs the Division of General Academic jor domains of early childhood development, the Pediatrics at the Children’s Hospital of Pittsburgh.

Martin I. Stein, MD * Originally published in J Dev Behav Pediatr. 1995;16(5) University of California, San Diego PEDIATRICS (ISSN 0031 4005). Copyright © 2001 by the American Acad- School of Medicine emy of Pediatrics and Lippincott Williams & Wilkins. La Jolla, California

Downloaded from www.aappublications.org/news by guest onPEDIATRICS September 28, 2021 Vol. 107 No. 4 April 2001 905 Dr. Steven Parker guage therapy is unlikely to provide appreciable This case exemplifies the most common scenario of supplemental benefits at this point. However, if language delay facing the primary care clinician: the Shelly is in a chaotic day care where there is very otherwise normal child with excellent receptive lan- little language directed at her or expectation for her guage but clear expressive language delay. to use language to express herself and if the parents The most critical feature presented in the history is do not use language in a reciprocal, eliciting way Shelly’s apparent normal receptive language. Ade- with the child (which you may observe in the course quate receptive language suggests that both the in- of the office visit), language therapy can be very puts for language (e.g., hearing) and the processing helpful, especially when the caregivers are involved. language are normal. If true, normal receptive lan- Regardless of the decision made, Shelly should be guage effectively rules out such important parts of followed up carefully by the primary care clinician. the differential diagnosis as mental retardation, au- Language testing at 2 years of age may reveal ditory processing disorder, developmental language marked improvement or continued deficits. If the disability, significant hearing loss, and other signifi- delays continue, the same process of generating a cant communication deficits (e.g., autism). differential diagnosis and potential treatment plan Shelly’s language difficulties are occurring on the should be entertained. output side of language development, which consid- There are no easy answers in this case, which is erably narrows the potential etiologies. Apraxia or both common and subtle. The clinician must walk other fine motor problems of the oral motor system, the fine line between delaying treatment in a child although plausible, are less likely in association with who will go on to have continued language deficits normal gross and fine motor skills in other areas. and for whom early treatment is beneficial and over- treating a child with a constitutional, maturational Additionally, in such cases there are often clues, such delay for whom treatment is unnecessary and for as early feeding disorders or prolonged drooling. whom labelling may present a whole set of new Bilingualism should be considered as a possible con- problems for family and child. tributing factor. Although somewhat controversial, it is fairly well established that bilingual children Steven Parker, MD achieve expressive language milestones at a slightly Boston University School of Medicine later date than their monolingual peers. In any event, Boston, Massachusetts bilingual children should catch up to monolingual children in the expressive realm by 3 years of age. REFERENCES Additionally, their receptive language should always 1. Bishop DVM, Edmundson A: Language impaired 4 year olds: Distin- be at age level. It is possible that Shelley’s task of guishing transient from persistent impairment. J Speech Hear Dis 52: simultaneously learning two languages is a factor in 156–173, 1987 her delayed expressive language. 2. Aram DM, Ekelman BL, Nation JE: Preschoolers with language disorders: 10 years later. J Speech Hear Res 27:232–244, 1984 Finally, constitutional or maturational expressive 3. Coplan J: Language delays, in Parker S, Zuckerman B (eds): Behavioral language delay should be considered. This is a diag- and Developmental Pediatrics: A Handbook for Primary Care. Boston, nosis of exclusion and is only made after one has ruled Little, Brown & Co., 1994, pp 195–199 out all of the other treatable causes of expressive language delay. In Shelly’s case, this diagnosis is Dr. James Coplan suggested by a positive family history. Against this Shelly is a 20-month-old with delayed speech. She diagnosis, however, is her female gender because it follows one-step commands, two-step commands is well established that young boys are more com- (inconsistently), and points to body parts on com- monly delayed in language skills than females. mand. Based on these observations, her receptive The diagnostic dilemma facing the primary care language skills appear to be normal. clinician is: How much of a workup should be per- We are told that Shelly’s growth parameters are at formed at this time, and should language treatment the 50th percentile. Does this include head circum- be initiated? Although the yield is probably low in ference? Limited information regarding adaptive this case, we recommend that all children with lan- skills (“normal...fine motor skills”) is provided. guage delays receive a hearing test. Subtle (conduc- Specific information regarding age at acquisition of tive or sensorineuro) hearing losses can contribute to spoon use, object permanence, means/ends behav- expressive language delay, while largely sparing re- ior, and current play activities would be useful. De- ceptive language. Formal evaluation of language de- spite these gaps in our database, Shelly’s normal velopment is not essential in this child except to receptive language makes global cognitive delay (i.e., assure that language testing and parental history mental retardation) unlikely.1 accurately reflect Shelly’s true language skills. Nev- She gives good eye contact, is socially engaging, ertheless, the decision about therapy at this stage is and points appropriately to desired objects. These often a clinical quandary. Perhaps the best way to observations make infantile autism unlikely. decide is by assessing the quality of the linguistic She responds to directions, “appears to hear nor- environment in which the child is functioning. If her mal human voices, music and a telephone ring,” and day care and home contribute linguistically enriched manifests “chatting as if she had her own language.” environments in which language is used to commu- These observations rule out bilateral profound hear- nicate, to label everyday events, to express ideas and ing loss. However, she could still have moderate, feelings, and to elicit these from Shelly, then lan- unilateral, or high frequency hearing loss.2

906 SUPPLEMENT Downloaded from www.aappublications.org/news by guest on September 28, 2021 Day care, bilingual upbringing, and the fact that 3. Coplan J: The Early Language Milestone Scale, 2nd ed. Austin, TX, she is an only child are irrelevant. Bilingual upbring- PRO-ED, 1993 4. Tuchman RF, Rapin I, Shinnar S: Autistic and dysphasic children. I. ing does not delay speech. First-born children and Clinical characteristics. Pediatrics 88:1211–1218, 1991 later-born children talk at the same time, and there is 5. Robinson RJ: Causes and associations of severe and persistent specific no evidence that parents who return to work preju- speech and language disorders in children. Dev Med Child Neurol dice their child’s rate of development. 33:943–962, 1991 Shelly’s developmental pattern may represent a variation of normal. However, this can only be de- Dr. Heidi Feldman termined in retrospect. Invoking “variation of nor- Assessment and management of language devel- mal” at this point as a justification for diagnostic opment in toddlers, as exemplified in this case, may inactivity is inappropriate. Partial hearing loss is still challenge even experienced child health care provid- a possibility. Office screening for hearing loss at this ers. First, typical toddlers rarely display their linguis- age is impossible. Toddlers “cheat” by watching the tic skills in the office. Second, although approxi- examiner. The background noise level in a “quiet” mately 10 to 15% of children show substantial delays office is 50 to 60 dB, far too loud for adequate hearing in language development at 2 years of age, only 4 to screening, and most of the stimuli available to the 5% remain delayed beyond age 3 years. The clinician examiner, such as a hand-held bell, are far too loud must differentiate children who are “late bloomers,” (90 dB). For example, the bell in the Early Language those who catch up with peers without special ser- Milestone Scale3 is a measure of auditory localiza- vices, from children with language impairments, tion, a cognitive behavior, and is not intended as a those with persistent delays who benefit from early measure of hearing. Shelly’s history is most consis- intervention. Research in developmental psychology tent with developmental language disorder (DLD). provides some assistance in this clinical area. DLD describes a heterogenous group of conditions When direct observations of a child’s language with varying degrees of expressive and receptive abilities are not possible, parents offer reliable and language impairment, in the absence of hearing loss, valid descriptions of their child’s language skills. emotional disturbance, global cognitive delay, au- Their accuracy increases when they are asked to tism, or physical disability.4 “Pure types,” such as the report on current functioning rather than historical receptive and expressive aphasias of adulthood, are milestones, emerging rather than well practiced rare during infancy. Expressive difficulties are no- skills, and when the question format requires recog- ticed first, with delayed speech, delayed emergence nition of the child’s abilities rather than recall of of complex grammatical forms (phrases, sentences), specific vocabulary or sentences.1 A new parent in- and delayed acquisition of intelligibility. Typically, ventory, the MacArthur Communicative Develop- receptive language is initially regarded as “normal.” ment Inventory,2 integrates these features and may As the child gets older, however, a variety of subtle be useful in a pediatric practice when parents have receptive language abnormalities often surface (“au- concerns about language. Based on the parent report ditory processing” disorders, impaired short-term in this case, the health care provider could reason- auditory memory, etc.). These can be virtually im- ably conclude that 20-month-old Shelley is delayed possible to detect in a 20-month-old child. The his- in expressive language skills. Infants typically ac- tory of language delay in the parents’ siblings may quire their first words at about 1 year of age and be relevant because DLD frequently migrates in fam- slowly acquire a vocabulary of 50 words by 18 ilies (although without a clear mendelian pattern).5 months of age. When the vocabulary reaches 50 to 75 What is the parent’s level of educational attainment words, most children rapidly accelerate the pace of and reading ability? language learning, acquiring, on average, four to six I would obtain an audiogram. If Shelly has not words per day. Simultaneously, the child begins to acquired a spoken vocabulary of a couple of dozen combine words into phrases and sentences. Shelley, single words as well as the ability to produce some who uses five words at 20 months of age, is func- two-word phrases by her second birthday, I would tioning at the 12- to 15-month-old level, or 60 to 75% refer her to a speech pathologist at that time. If of age expectations. significant language delay is documented, I would The prognosis for the pace of future language de- inquire about drug, alcohol, or other teratogenic ex- velopment depends in part on a survey of risk fac- posure during pregnancy. I would consider tors. Many studies show increased family aggrega- G-banded chromosomes, Fragile X by DNA probe tion of language disorders, strongly suggesting a analysis, and HIV by ELISA because language delay genetic contribution.3 Hurst and colleagues4 de- can be the presenting feature of HIV encephalopathy. scribed a family pedigree in which 50% of members of three generations had speech and language diffi- James Coplan, MD culties, consistent with an autosomal dominant State University of New York mode of transmission.4 Perinatal medical complica- Health Science Center tions, including low birth weight or prematurity, are Syracuse, New York also associated with language delays,5 although REFERENCES some studies find no impact of prematurity on lan- guage development.6 The significance of prenatal 1. Coplan J: Normal speech and language development: An overview. Pediatr Rev 16:91–100, 1995 complications such as preterm labor have not been 2. Coplan J: Deafness: Ever heard of it? Delayed recognition of permanent extensively studied. In this case, the survey of risk hearing loss. Pediatrics 79:206–213, 1987 factors offers limited insight into prognosis. Second-

Downloaded from www.aappublications.org/news by guest on September 28, 2021 SUPPLEMENT 907 degree relatives had apparent language delays, but child’s output rather than when adults initiate most no primary relatives (parents or siblings) suffer lan- of the conversation.9 In cases like this one, the clini- guage disorders. Shelley’s mother experienced pre- cian and parents together should assess the quality of term labor, but Shelley was delivered without com- the home environment in particular, (interactions of plications at term. mother, father, and all other major care providers Developmental milestones in other domains have with the child) as another potential contributor to been shown to be very useful in determining prog- language delay. nosis for language development. Children between Given that Shelley has no major risk factors and 18 and 24 months of age who function below the 10th good prognosis for normal language functioning on percentile for expressive vocabulary but who are the basis of the developmental evaluation, further near the mean for receptive vocabulary have been workup can be deferred, at least briefly. However, shown to ultimately catch up with age-matched close monitoring of development status and counsel- peers.7 Toddlers with expressive and receptive de- ing about optimal environmental stimulation is es- lays were found to fall farther behind over time and sential. If Shelley fails to increase the rate of devel- eventually to meet diagnostic criteria for specific lan- opment over the next 4 months, then further workup guage impairment.7 Mastery of the cognitive prereq- is highly recommended. The most important diag- uisites for language development, such as imitation, nostic test would be a full audiological assessment, intentionality, and symbolic thinking, are other good because hearing loss can account for about half of the prognostic indicators. By history and observations, cases of language delay in some series. General de- Shelley seemed to have age-appropriate receptive velopmental assessment by qualified professionals language skills, including recognition of pictures and would also be important because global develop- body parts, and comprehension of two-part com- mental problems and mental retardation account for mands. Her interest in dolls suggests that she is another large subset of cases. Clinicians should capable of symbolic thinking. These developmental readily refer children with persistent language de- milestones put her in the good prognosis category. lays for early intervention. Early intervention for Moreover, language is primarily used for social com- language delays and disorders has been shown to be munication, so this child’s age-appropriate social quite effective. A child referred for early intervention skills and nonverbal communication are additional who catches up to age mates can be discharged from signs of good prognosis. services without harm. A child who could benefit The consensus in the field of psycholinguistics is from early intervention would be disadvantaged by that exposure to a bilingual environment offers no delays in referral. major disadvantages to children learning language, at least when studies control for the social class of the Heidi Feldman, MD, PhD children. Children in bilingual environments pro- University of Pittsburgh School of Medicine ceed initially as if they have a single vocabulary, Pittsburgh, Pennsylvania choosing one word from either language for each REFERENCES concept or referent they label. At the time of the 1. Fenson L, Dale PS, Reznick JS, Bates E, Thal DJ, Pethick SJ: Variability language spurt, they begin to organize vocabulary in early communicative development. Monogr Soc Res Child Dev 15: words into separate language codes; early phrases 7–85, 1994 and sentences usually contain words from only one 2. Fenson L, Dale PS, Reznick JS, Thal D, Bates E, Hartung JP, et al: language source. Language learning is facilitated MacArthur Communicative Development Inventories, User’s Guide and Technical Manual. San Diego, CA, Singular Publishing Group, Inc., when consistent environmental cues assist in this 1993 organization process, in particular when each care- 3. Tallal P, Ross R, Curtiss S: Familial aggregation in speech and language giver consistently uses one language. Attributing the impairment. J Speech Hear Dis 54:167–173, 1989 delay exclusively to bilingual input seems inappro- 4. Hurst JA, Baruster M, Auger E, Graham F, Norell S: An extended family priate in this case given the degree of delay and the with a dominantly inherited speech disorder. Dev Med Child Neurol- ogy 32:352–355, 1990 relatively bilingual environment. 5. Largo RH, Molinari L, Cornenale Pintol, Weber M, Duc G: Language Assessment of a child’s language environment is development of term and preterm children during the first five years of appropriate when the child experiences delays in the life. Dev Med Child Neurol 28:333–350, 1986 absence of physical and neurological findings and 6. Menyuk P, Liebergott J, Schultz J: in: Early language development in full-term and premature infants. Hillsdale, NJ, Lawrence Erlbaum As- risk factors. Though developmental psychologists sociates, 1995 debate the relative importance of the environment in 7. Thal D, Tobias S, Morrison D: Language and gesture in late talkers. A language learning, all agree that language skills are one year follow-up. J Speech Hear Res 34:3604–612, 1991 not well learned from television, radio, or solitary 8. Huttenlocher J, Haight W, Bryk A, Seltzer M, Lyons T, et al. Early play. Studies consistently show that children living vocabulary growth: Relation to language input and gender. Dev Psy- chol 27:236–248, 1991 in poverty acquire language more slowly than chil- 9. Snow CE: Saying it again: The role of expanded and deferred imitations dren from the middle class; the precise environmen- in language acquisition, in: Nelson KE (ed): Children’s Language, Vol 4. tal factors that affect the rate of language develop- New York, NY, Gardner Press, 1993, pp 29–58 ment have not been clearly determined but may be either the quality or quantity of the input. Recent Dr. Martin Stein studies show that the rate of vocabulary growth cor- Dr. Feldman reminds us of the clinical challenge relates with the number of words parents use with language assessment in office practice when she their children.8 Children also seem to learn language states that “typical toddlers rarely display their lin- more quickly when caregivers repeat and expand the guistic skills in the office.” Relying on parental report

908 SUPPLEMENT Downloaded from www.aappublications.org/news by guest on September 28, 2021 means that it is critical to learn the skills necessary to Dr. Feldman provided some clues to assess language ask appropriate, open-ended, and focused questions. environment. Research has shown that the rate of To gain an accurate assessment of a young child’s vocabulary growth correlates with the number of output and understanding of language, the Early words parents use with their children and that chil- Language Milestone Scale1 or the MacArthur Com- dren learn language more quickly when caregivers municative Development Inventory,2 referred to by repeat and expand the child’s output rather than Drs. Coplan and Feldman, not only add a practical when adults initiate conversation. Finally, Dr. Feld- screening instrument to a pediatrician’s ability to man would not perform either an audiogram or a full screen for language disorders, but these instruments language assessment at this point. If the rate of lan- can also be used to learn to ask clinically appropriate guage development did not increase by 24 months of questions to caregivers and children. age, she recommends both assessments. The differential diagnosis of a child with a lan- That experienced clinicians have different ap- guage delay was addressed by Drs. Coplan and proaches to clinical problems is found throughout Parker. They excluded many specific and global medicine. The differences often are not based on causes of language delay by selective use of histori- available medical knowledge but rather on one’s cal, family, and developmental data. The case pre- practice experience. Dr. Coplan is a developmental sentation included information that made several pediatrician in an academic center where he evalu- diagnoses unlikely, including mental retardation, au- ates children referred for a variety of developmental tism, and a severe hearing loss. Dr. Coplan noted problems. Drs. Parker and Feldman, although both that Shelley’s history and examination were consis- practice and teach in academic centers, have a pri- tent with the diagnosis of developmental language mary care clinician’s perspective. Throughout medi- delay. He described this disorder as a heterogenous cine, the specialist is an expert in the numerator of group of conditions with a wide spectrum of expres- disease frequency, and the generalist is the expert in sive and receptive language impairment in the ab- the denominator! This difference, in part, is respon- sence of other disorders that may affect language, sible for the different perspectives among the com- including hearing loss, emotional disturbances, mentators. In addition, the primary care clinician global cognitive delay, autism, and some physical typically works under the assumption that continu- disabilities. A developmental language disorder may ity of care is assured. The uncertain or equivocal start with delays only in expressive speech; with diagnosis at one office visit can be followed up in a more precise diagnostic accuracy in preschool and designated time interval with a degree of assurance. school-age children, problems with receptive lan- The specialist, who evaluates a child as a consultant, guage, especially auditory processing and short-term may not be comfortable withholding a diagnostic memory impairment, may surface. study or therapeutic intervention when continuity of There is a consensus among the commentators care is less clear. that, at 20 months of age, Shelley’s isolated expres- The case of Shelley exemplifies one of many chal- sive language delay is significant and may either lenges faced by pediatricians and other health care reflect a maturational delay (i.e., a benign and revers- clinicians when monitoring for developmental vari- ible form of developmental language delay) or may ations and delays. The boundary between a normal be the harbinger for a more protracted delay. Dr. variation and an irreversible delay is often not clear. Feldman’s reference to the fact that approximately 10 The risk of inaccurate labeling must be balanced with to 15% of children show substantial delays in lan- the potential risk of delayed intervention. Both are guage development at 2 years of age, whereas only 4 real! They will not go away by either excessive use of to 5% remain delayed beyond age 3 years, supports “watchful waiting” or indiscriminate referrals for this observation. diagnostic studies and therapies. The differences among the three clinicians in rec- Clinical experience, based on both research data ommendations in light of a similar diagnostic formu- and an effective synthesis of the medical history, lation is striking. Dr. Coplan would perform an au- physical examination, and developmental assess- diogram now and refer to a speech pathologist if ment, begins the process required for a reasoned Shelley’s language did not progress significantly by decision. 24 months of age. Dr. Parker would also order an audiogram, while recognizing the low yield of a Martin Stein, MD hearing loss in this clinical setting. He adds a caveat: REFERENCES a mild hearing loss can occasionally contribute to an 1. Coplan J: The Early Language Milestone Scale. Austin, TX, PRO-ED, isolated expressive language delay. Dr. Parker 1993 would refer to a language therapist at this point only 2. Fenson L: MacArthur Child Development Inventories (CDI). San Diego, if a child’s linguistic environment was inadequate. CA, Singular Publishing Group, 1993

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