DEVELOPMENTAL DELAYS and REGRESSIONS a Two-Year-Old Boy with Language Regression and Unusual Social Interactio

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DEVELOPMENTAL DELAYS and REGRESSIONS a Two-Year-Old Boy with Language Regression and Unusual Social Interactio CHALLENGING CASE: DEVELOPMENTAL DELAYS AND REGRESSIONS A Two-Year-Old Boy with Language Regression and Unusual Social Interactions* CASE his brother seems to prefer me.” The parents’ mar- Jimmy, a 21⁄2-year-old boy, was seen for the first riage was strong and free of any major disharmony. time by a new pediatrician after a recent family During the interview, the pediatrician noted that move. His mother made the appointment for a health Jimmy played persistently with his set of small supervision visit although she had concerns about trains, repetitiously lining them up in order. He was his language and social skills. She stated that he not interested in other toys that were on the floor spoke primarily with unintelligible sounds and often next to him. He ran around the trains, mostly on his communicated by pointing with his finger. He spoke toes, while making unintelligible sounds. He looked only 10 words that were clear enough to be under- away when the pediatrician called his name and stood. Jimmy’s mother said that he could hear, but became agitated when his mother attempted to redi- she was not sure whether he understood everything rect his attention to the examination. she said. Although he played at home with his The pediatrician, 4 years in practice after his resi- 4-year-old brother, he typically played by himself dency, had never seen a child with Jimmy’s pattern when he was in the presence of other children. Jim- of development. That Jimmy’s development was un- my’s mother was asked if he had had a 2-year-old usual in two domains was apparent to his pediatri- visit to a pediatrician and what the assessment was cian from the preceding information and brief obser- at that time. She said that his delayed development vations. He asked himself what the next steps should was discussed with the pediatrician, but she was be. reassured that he would progress during the follow- Index terms: language delay, developmental regression, autistic spec- ing year. trum disorder, autism, pervasive developmental delay. An uncomplicated full-term gestation was fol- lowed by a vaginal delivery without perinatal prob- Dr. Martin T. Stein lems. Jimmy was a “calm” baby who was breastfed At the end of the second year of life, Jimmy expe- for the first 6 months of life. He sat at 7 months, rienced a loss of previously acquired language skills pulled himself up to stand with support at approxi- associated with several atypical behaviors during mately 9 months, and walked at 13 months. Transi- play and social interactions. Regression of language tions were always difficult for Jimmy; he screamed skills persisted and was temporally associated with and was difficult to settle whenever cared for by periodic separations from his father because of his someone other than his parents. He typically resists father’s employment demands. Jimmy’s attention physical contact when children or adults approach was sustained when he played repetitively with him. His mother recalled that language emerged trains, which he preferred to line up in a specific early. He acquired a significant number of words order; however, he could not be engaged in either between 12 and 15 months of age. Jimmy apparently conversation or play with his pediatrician. recognized letters when his parents were teaching The monitoring and assessment of language mile- the older sibling. At 15 months, Jimmy’s language stones are, arguably, the most challenging compo- output regressed dramatically, and by 18 months, he nents of developmental surveillance for most pedia- no longer used words to communicate. Since then, he tricians. The range of predicted acquisition of many has spoken fewer than 10 single words. He mostly language skills is broad, and pediatricians often must babbles and uses repetitions of the same sounds. rely on a parent’s report rather than on clinical ob- The pediatrician inquired into family structure and servation. What makes this case different from the life events at the time Jimmy lost language mile- toddler who presents isolated language delay is the stones. He was told that, at this time, the father, an presence of unusual social skills and sensitivities. It engineer, changed his position in the company and should immediately raise the possibility of a perva- began to travel extensively. Jimmy’s mother thought sive developmental disorder (PDD) and other diag- that the absence of his father might be related to the nostic categories. language regression. She also noted that Jimmy As a result of an expanded perspective on the seemed to have a stronger attachment for his father: initial presentation, diagnostic criteria, interventions, “Jimmy has always been attracted to his father, and and prognosis of children with PDD (also known as “autistic spectrum disorder”), expectations for early * Originally published in J Dev Behav Pediatr. 2000;21(4) recognition, referral for evaluation, and treatment PEDIATRICS (ISSN 0031 4005). Copyright © 2001 by the American Acad- have changed dramatically. Ten to 15 years ago, a emy of Pediatrics and Lippincott Williams & Wilkins. general pediatrician with a busy office practice may 910 PEDIATRICS Vol.Downloaded 107 No. 4from April www.aappublications.org/news 2001 by guest on September 24, 2021 not have recognized a toddler with mild to moderate adjustment reaction that usually lasts less than 6 developmental delays consistent with an autistic months. It is now more than a year since the stressful spectrum disorder. In fact, the average age of diag- event, and the language and behavior are unusual, as nosis of PDD in the United States is 3 to 4 years. well as delayed. Currently, however, there is sufficient empirical re- Language regression with autistic behavior sug- search to demonstrate the effectiveness of early and gests the Landau-Kleffner (L-K) syndrome, epilepti- intensive interventions in optimal educational set- form aphasia. This disorder presents with loss of tings when they occur for at least 2 years during the language and seizures, often subclinical, and some- preschool period.1,2 Recent studies demonstrate im- times is only apparent on an overnight sleep electro- proved outcomes in most young children with au- encephalogram (EEG) or other special studies. Tem- tism, including speech in 75% or more and signifi- poral sharp waves are typical. Recent reports suggest cant improvement in social skills and intellectual that EEG irregularities are as common in autism as in performance.3,4 The challenge now for primary care L-K syndrome, blurring the distinction. Treatment is pediatricians is to design and implement an office- high-dose steroids for 6 to 12 weeks and analeptic based screening program that is sufficiently sensitive medications. Sustained, dramatic improvements can to identify those young children who might benefit be seen with treatment, especially in the youngest from further assessment. children.2,3 Drs. Charles Cowan and Suzanne Dixon com- Fragile X syndrome should be considered, espe- ment on a diagnostic approach to Jimmy’s presenta- cially if this boy has long ears and face and hyper- tion with the limited information available in the extensible joints. At 2 years of age, his testes would case summary. The history obtained from Jimmy’s be of normal size and the phenotype subtle. CATCH mother and the brief office observations reflect time 22, another chromosomal disorder, is also a possibil- limitations in most primary care settings. Dr. Cowan ity and can present the behavioral profile without the is a Clinical Professor of Pediatrics at the University cardiac or other features. Other considerations are of Washington. Before joining the Neurodevelop- the neurocutaneous syndromes, especially the tuber- mental Program at the Children’s Hospital and Re- ous sclerosis complex. A careful skin examination gional Medial Center in Seattle, he was a primary should be performed for depigmented macules, of- care pediatrician. He brings the perspective of a gen- ten the first visible sign of the disease and only seen eralist into the discussion. Dr. Dixon is a develop- with an ultraviolet light (Wood’s lamp). A complete mental-behavioral pediatrician and Emeritus Profes- family history is in order; family studies have shown sor of Pediatrics at the University of California San a 50- to 100-fold increase in the rate of autism in Diego. Currently she is at the Great Falls Clinic in first-degree relatives. Metabolic disorders and con- Great Falls, Montana, where she evaluates and treats genital infections may result in an autistic-like pro- children who have a wide range of developmental file, but they would usually present with a general- and behavioral problems. ized delayed pattern of early development and microcephaly. Most children with autistic disorders Martin T. Stein, MD have large head sizes compared with typically de- Professor of Pediatrics veloping children. If there have been regressions in University of California, San Diego School of other areas of development, the differential diagno- Medicine San Diego, California sis widens to include several neurodegenerative dis- orders. REFERENCES A temperamental profile of social withdrawal, poor adaptability, and high persistence could explain 1. Anderson SR, Campbell S, Cannon BO: The May Center for early some of Jimmy’s unusual behaviors. However, the childhood education, in Harris S, Handleman J (eds): Preschool Educa- tion Programs for Children with Autism. Austin, TX, Pro-Ed, 1994, pp atypical language and the restricted and repetitive 15–36 play patterns are not explained by temperamental 2. Ozonoff S, Cathcart K: Effectiveness of a home program intervention for differences alone. A severe language disorder can young children with autism. J Autism Dev Disord 28:25–32, 1998 present with some of the atypical behaviors de- 3. Dawson G, Osterling J: Early intervention in autism: Effectiveness and common elements of current approaches, in Guralnick MJ (ed): The scribed here.
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