Challenging Case

Gaze Maintenance and Autism Spectrum Disorder Leah Kaye, MD,* Marie Kurtz, CCC/SLP,† Cheryl Tierney, MD, MPH,‡ Ajay Soni, MD,§ Marilyn Augustyn, MD\ CASE: J.L. is a 5½-year-old boy whom you have followed in your primary care practice since age 26 months. He was born full-term vaginal delivery weighing 6 pounds 15 ounces. His biological mother used heroin, tobacco, and cocaine during pregnancy. From 8 weeks to 18 months, he spent time in a foster home where he was provided limited attention and nurturing. At age 18 months, he entered a loving foster home; at 26 months, he was adopted. There is maternal history of attention-deficit hyperactivity disorder, learning disability, depression, bipolar disorder, and substance abuse but no history of autism or cognitive disability. J.L. received early intervention before adoption. Specific concerns are unknown. At the time of his adoption, he had delays in gross motor and fine motor skills, nonverbal communication, and speech production. Familiar listeners find J.L. to be 100% intelligible but unfamiliar listeners understand about 70% of what J.L. says. He enjoys being with his adopted mother and imitating her. He has demonstrated significant anxiety during his play therapy. He has difficulty in paying attention to multistep directions. J.L. can point and wave but has difficulty following someone’s eyes to see where another person is looking. J.L. enjoys a variety of interests but has a special fixation on Toy Story characters. J.L. does initiate social interactions but can be aggressive toward his siblings and oppositional toward his parents. He is not aggressive at school. Teachers note hyperactivity and impulsivity. J.L. is bothered by bright lights and by others making loud noises but has no difficulty with crowds. J.L. is reported to have difficulty in transitioning between activities. At his 5-year-old visit, you as well as his mother and therapists note that he has trouble following with his eyes so he is referred to a neuro-ophthalmologist. Evaluation showed J.L. was able to fix on and follow objects and light, his peripheral vision was normal, his pupils were equal and reactive without afferent pupillary defect, and normal visual tracking as assessed through pursuit and saccades. There were some head jerking motions observed which were not thought to be part of J.L.’s attempts to view objects. Gaze impersistence was noted, although it was not clear if this was due to a lack of attention or a true inability to maintain a gaze in the direction instructed. On review of the school’s speech and language report, they state that he is >90% intelligible. He has occasional lip trills. Testing with the Clinical Evaluation of Language Fundamentals shows mild delays in receptive language, especially those that require visual attention. Verbal Motor Production Assessment for Children reveals focal oromotor control and sequencing skills that are below average, with groping when asked to imitate single oromotor nonspeech movements and sequenced double oromotor nonspeech movements. At 5½ years, he returns for follow-up, and he is outgoing and imaginative, eager to play and socialize. He makes eye contact but does not always maintain it. He asks and responds to questions appropriately, and he is able to follow verbal directions and verbal redirection. He is very interested in Toy Story characters but willing to share them and plays with other toys. J.L.’s speech has predictable, easy to decode sound substitutions. On interview with him, you feel that he has borderline cognitive abilities. He also demonstrates good eye contact but lack of visual gaze maintenance; this is the opposite of the pattern you are accustomed to in patients with autism spectrum disorder. What do you do next? (J Dev Behav Pediatr 35:610–612, 2014) Index terms: autism spectrum disorder, eye contact, DSM 5 diagnostic criteria for ASD.

From the *Department of Pediatrics, Hershey Medical Center Children’s Hospital, Hershey, PA; †Penn State Hershey Medical Center Pediatric Therapy Services, Hershey, PA; ‡Section of Behavior and Developmental Pediatrics, Hershey Medical Center Children’s Hospital, Hershey, PA; §Departments of Ophthalmology and Pediatrics, Hershey Medical Center Children’s Hospital, Hershey, PA; \Division of Developmental and Behavioral Pediatrics, Boston Medical Center, Boston, MA. Disclosure: The authors declare no conflict of interest. Address for reprints: Marilyn Augustyn, MD, Department of Pediatrics, 818 Harrison, Maternity-5, Boston, MA 02118; e-mail: [email protected]. Copyright Ó 2014 Lippincott Williams & Wilkins

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Marie Kurtz, CCC/SLP J.L. presents as verbal and outgoing. He is very social and both asks and responds to questions. J.L.’s speech, language, and pragmatic deficits are mixed with an atypical combination of strengths and weaknesses. J.L. makes eye contact but is unable to maintain that eye contact throughout a conversation. He has excellent use of language to express himself with noted creativity and complexity. Examining his school testing more closely, his standard score on expressive language assessment is Journal of Developmental & Behavioral Pediatrics

above average. 1 This is in sharp contrast to his language comprehension score, which is below average as assessed on book-based tasks that require visual attention. J.L. was noted in context and conversation to be capable of direction following and question comprehension, skills that were less evidenced on formal testing. J.L.’s attention is decreased but able to be regained with simple verbal redirection. His speech is clear and intelligible, despite gross deficits in structured nonspeech oral motor imitation tasks. These sharp disparities in skills lead to concerns that his visual deficits are masking his language comprehension, imitation, and pragmatic function.

REFERENCE 1. Semel E, Wiig EH, Secord WA. Clinical Evaluation of Language Fundamentals(r)-Preschool-2 (CELF(r)-Preschool-2). San Antonio, TX: Pearson; 2004.

Leah Kaye, MD, Cheryl Tierney, MD, MPH J.L.’s history provides a number of interesting points to explore. His abilities for joint attention, which involves alternating eye gaze between an object and a communication partner, appear to be mixed. J.L. appears to have intact initiation of joint attention, with the ability to intentionally direct an examiner’s attention. He is easily able to make direct eye contact; however, he has difficulty with direct eye gaze; both components are important in response to joint attention (eye-gaze alternation). Typically children with Autism Spectrum Disorder (ASD) have difficulty with direct eye contact and spend more time looking at the mouth than the eyes.1 This is not the case for J.L., who has excellent eye contact and expressive language. Instead, he has difficulty with direct eye gaze and with maintaining his gaze. His delayed abilities in receptive language tasks that require increased visual attention may suggest an attention deficit but could just as likely be due to his deficit in visual gaze and gaze maintenance. His difficulties with oromotor movements that are soundless, but ability to replicate complex movements that utilize sound, also suggest difficulties with visual cues. This would be unusual in a child with ASD, which should raise concern for a different or comorbid diagnosis.2 His birth history of exposure to illicit substances, traumatic early childhood experiences, and this uneven neurodevelopmental profile could warrant a magnetic resonance imaging to rule out structural damage or abnormality that could result in these specific deficits. Importantly for J.L., visual supports, which are common means to aid children with ASD, would likely not be beneficial. Visual supports have been recommended as a mean for capturing and maintaining attention in individuals with attentional deficits and ASD but in J.L.’s case auditory prompts and direct eye contact may be more helpful. Vol. 35, No. 9, November/December 2014

REFERENCES 1. Bruinsma Y, Koegel RL, Koegel LK. Joint attention and children with autism: a review of the literature. Ment Retard Dev Disabil Res Rev. 2004;10:169–175. doi:10.1002/mrdd.20036. 2. Pelphrey KA, Sasson NJ, Reznick JS, et al. Visual scanning of faces in autism. J Autism Dev Disord. 2002;32:249–261.

Ajay Soni, MD The research on visual processing and ASD shows great variability from one study to the next, making it difficult to say anything with certainty. Abnormalities have been noted in the incidence of refractive errors, convergence ability, motion processing, and recognition of facial expressions when comparing autistic individuals to normal individuals. However in other tests of visual functioning, such as performance on complex visuospatial tasks and contrast sensitivity, the children with ASD have shown an advantage.1 The typical trend in a child with ASD is a deficiency in processing the eye regions of the face which is in contrast to superior performance on complex visual search tasks involving objects. J.L. certainly demonstrates a pattern that is opposite to the typical one of a child with ASD. J.L.’s eye examination revealed normal pursuit and saccades. A complex interplay between various nuclei in the brainstem is responsible for vertical and horizontal gaze.2 However, since J.L. maintains good fixation to faces, it would be unlikely that there is any significant abnormality here. One would expect that an insult to the brainstem that affects gaze would have equal effect on gaze at faces and objects. Similarly, it is the frontal eye fields in the frontal lobe that are responsible for initiation of voluntary gaze, and the cerebellum primarily that is responsible for gaze maintenance. However, again, a selective weakness with gaze holding on objects is unlikely to be due to a neuroanatomical abnormality in the visual system.

REFERENCES 1. Simmons DR, Toal EF. Autism, attention-deficit/hyperactivity disorder, and ocular disease. In: Pediatric Ophthalmology and Strabismus. New York, NY: Oxford; 2012:118–131. 2. Kline LB, Bajandas FJ. Supranuclear and internuclear gaze pathways. In: Neuro-ophthalmology Review Manual. Thorofare, NJ: Slack; 2004:45–75.

Marilyn Augustyn, MD In the last two decades of rapid change in our understanding of autism spectrum disorder, much attention has been focused on the role of eye contact in diagnosis and treatment. Once again, this case illustrates that sometimes the symptoms we “see” or do not in the case of eye contact, may lead us down the wrong path to diagnosis. Our understanding about the role of eye contact in children with ASD continues to evolve. A recent study by Frey et al1 showed that the eye contact difficulty in children with ASD may be due in part to how © 2014 Lippincott Williams & Wilkins

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their brains process visual information, rather than being purely a social deficit. In the study, children with ASD showed activity over a larger area of the brain’s cortex when an image was placed in the periphery of their visual field, compared with when the image was placed in the center of their visual field. The opposite was true in children who did not have the disorder. This may reflect that children with ASD have a basic difference in how their visual cortex is mapped with more neurons devoted to

process information in the periphery reflecting not a social deficit but an anatomic one. As our understanding continues to grow, so must our ability to think (and see) beyond what seems to be directly in front of us.

REFERENCE 1. Frey HP, Molholm S, Lalor EC, et al. Atypical cortical representation of peripheral visual space in children with an autism spectrum disorder. Eur J Neurosci. 2013;38:2125–2138. doi:10.1111/ejn.12243.

Book Review Children with Multiple Mental Health Challenges: An Integrated Approach to Intervention Landy S, Bradley S, New York, NY, Springer Publishing, 2014, 550 pp, $75.00, Soft cover. This article provides a comprehensive overview of complex mental health disorders in children from the preschool years to adolescence. Authors Sarah Landy, a Child Psychologist, and Susan Bradley, a Child Psychiatrist, integrate clinical experience with current scientific knowledge to present an individualized approach for the evaluation and treatment of these complicated problems. They promote a developmental, dimensional, and functional model through the use of multidisciplinary assessments to formulate an integrated and effective intervention plan. The book is divided into 3 sections. The framework for an individualized approach to identifying, assessing, and treating developmental impairments is outlined in the first section. Screening and assessment are covered with recommendations for appropriate tests and tools for each developmental and functional domain. Case studies are used in each chapter to provide clinical context and illustrate impairments that frequently result in specific developmental and functional problems. Biologic and genetic influences along with the effects of environmental factors on brain development are covered with references to recent research. The DSM-5 diagnostic criteria are used throughout the text; however, problems and disorders are categorized into functional areas of impairment for the purpose of assessment and intervention. Through this approach, the authors emphasize that multiple pathways and processes often lead to similar functional impairments and disorders.

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In section 2, problems are presented for specific developmental and functional domains including disorders of motor development and sensory processing as well as language and communication impairments. Chapters begin with concise and complete reviews of typical development before focusing on problems and disorders. Tables, figures, and charts are used to summarize key information and will be helpful for future reference and useful as teaching aids. Additional chapters cover difficulties and disorders related to trauma, emotional regulation, behavior regulation, executive function, and attachment/social development. Each begins with an overview of typical development along with the neurobiology and genetic contributions that support normal function or lead to dysfunction. Specific approaches to assessment described include questionnaires and screening tools for use in clinical settings. Intervention programs are discussed with strong emphasis placed on evidence-based programs with references and links to further information. Pharmacologic management of disorders is briefly covered but main focus of this text is on cognitive and behavioral strategies and therapies. Chapters conclude with a list of Websites providing further information and related resources. The final section focuses on working with parents, the educational system, and community programs for prevention and early intervention. In the chapter on parents, the authors present a perspective for working with parents of children with

significant mental health disorders. Parenting theories, the challenges of different parenting practices, and standardized therapy programs for externalizing and internalizing disorders are described. The chapter on school-based mental health services provides a developmental perspective for dealing with complex emotional and behavioral challenges in the school environment. Treatment programs that promote positive teacher-child relationship and collaboration are recommended and highlighted. The authors emphasize effective prevention and early intervention during infancy and the preschool years as the most effective and strategic time for intervention. These interventions have potential to prevent the long-term effects of developmental delays, violence exposure, and maltreatment, which are often antecedents for the development of emotional and mental health disorders. “Children with Multiple Mental Health Challenges” is an excellent and useful resource for clinicians, therapists, and professional students. Overall the text is easy to read and navigate. It has information with abundant links to further resources and references. This text will be a great reference in the clinical and educational setting. Disclosure: The author declares no conflict of interest.

Donald R. Hamilton, MD Child Study Center, University of Oklahoma Health Sciences Center, Oklahoma City, OK

Journal of Developmental & Behavioral Pediatrics

Gaze maintenance and autism spectrum disorder.

Chase is a 5½-year-old boy whom you have followed in your primary care practice since age 26 months. He was born full-term vaginal delivery weighing 6...
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