New-Onset Hallucinations and Developmental Regression in a Child with Autism Spectrum Disorder.

CASE: Nick is a 5-year-old boy who began displaying self-stimulating behaviors and decreased social interactions shortly before turning 3 years. At the age of 3.5 years, he was diagnosed with autism spectrum disorder by a local developmental-behavioral pediatrician. His parents recall that the physician described Nick to be "high functioning" and encouraged them to expect that he would attend college and live independently as an adult. Upon receiving the diagnosis, intervention was initiated using an applied behavioral analysis (ABA) approach. With this intervention, he demonstrated initial gains in the use of complex language and improved social interactions.Concerns regarding suspected psychosis emerged just before starting kindergarten when Nick began experiencing ego-dystonic visual and auditory hallucinations. Initially, Nick verbally responded to the hallucinations and vividly described what he was experiencing. Shortly after the onset of these hallucinations, Nick experienced a significant decrease in the frequency and complexity of his expressive language and became more withdrawn. Over time, his hallucinations intensified, and his parents became increasingly fearful for his safety. Various antipsychotic and mood-stabilizing medications, steroids, and immunotherapy have been trialed with limited improvement of his symptoms.An extensive medical evaluation yielded the following:1. Magnetic resonance imaging of the brain: dilated perivascular spaces.2. Urine organic acids: ketosis and increased lactic acid.3. Antinuclear antibody: minimally positive.4. Vitamin B12: elevated.All other studies, including lumbar puncture, electroencephalogram (awake and asleep), genetic studies (chromosomal microarray, fragile X testing, and whole exome sequencing), metabolic studies, inflammatory markers, and thyroid panel, were negative/normal.Nick is enrolled in a special education classroom within a school that utilizes an ABA-based approach for all students. As part of his educational programming, he receives 25 hours of ABA in a 1:1 setting, 2 hours of speech therapy, 3 hours of occupational therapy, 1 hour of physical therapy, and 30 minutes of music therapy weekly. Current concerns include significant head-banging and thrashing before falling asleep, hyperactivity, unsafe behaviors (e.g., banging on windows, climbing high to reach desired items), aggression toward caregivers, limited ability to complete self-care tasks (e.g., personal hygiene, toileting), significant decline in expressive language, and continued response to internal stimuli.Nick's parents now present to a multidisciplinary center seeking guidance regarding additional therapies/interventions to assist in management of his current developmental and behavioral challenges as well as information regarding his expected developmental trajectory as he reaches adulthood.

Developmental Delay and Behavior Challenges in an Internationally Adopted Child.

CASE: Jay is a 6-year-old boy who was referred to a multidisciplinary developmental clinic for evaluation because of speech/language delays and challenging behaviors. He attends kindergarten with an Individualized Education Program (IEP) supporting developmental challenges with speech/language, motor, and academic skills.Jay was reportedly born full-term after an uneventful pregnancy and lived with his biological family for several months before transitioning to institutional care. Shortly before his first birthday, he transitioned to the first of 3 foster homes. It is suspected that Jay experienced malnourishment, neglect, lack of appropriate supervision, and inappropriate levels of responsibility (e.g., providing care to an infant when he was a toddler) as well as limited language input while in foster care. Ages at which he attained developmental milestones are unknown, but he has displayed delays across all developmental domains, including speech/language development in his primary language, which is not English.Jay's adoptive parents report that he is learning English vocabulary well but has been noted to have occasional word-finding difficulties and errors in verb conjugation, pronoun use, and syntax in English. Behavioral concerns include impulsivity, hyperactivity, and aggression exacerbated by new or loud environments and transitions. Socially, he seems to be typically engaged with peers but lacks understanding of personal space/boundaries. His adoptive parents have also noted that he is very sensitive to the emotions of others around him, more irritable in the morning, fascinated by "scary" things, and seems to fear abandonment. During the initial months in his adoptive home, he had frequent night awakenings, fear of the dark, and aggression at bedtime, but all these concerns have improved with time.Neuropsychological testing was completed as part of the multidisciplinary developmental evaluation, and Jay demonstrated low-average cognitive abilities, delayed preacademic skills in all language-based areas, and receptive and expressive language delays. He was socially engaged during the evaluation. Ultimately, he was diagnosed with mixed receptive-expressive language disorder, attention-deficit/hyperactivity disorder, combined presentation, and unspecified trauma/stress-related disorder.Given what is known about Jay's early history, what factors would you consider in addressing his parents' concerns regarding his speech/language development and behavior challenges?

Access to Care Limitations: When Distance and Lack of Evidence Meet.

CASE: Jimmy is a 13-year-old adolescent boy who was diagnosed with Down syndrome (trisomy 21) prenatally. Jimmy is the only individual with Down syndrome in the small, rural community where he lives with his parents. He has mild sleep apnea, and his gross and fine motor developmental milestones were generally consistent with those expected among children with Down syndrome. At age 4, his parents raised concerns about his limited language, strong preference to be alone, and refusal to leave the house. Parents had observed his marked startle response to loud laughter and adult male voices. At age 7, his preferred activities consisted of dangling necklaces or shoelaces in front of his face and rocking his body forward and backward when seated. After limited progress in special education, speech, and occupational therapies, he was referred, at age 8, to a specialty center 3 hours from his home for a multidisciplinary evaluation. There, he received a diagnosis of co-occurring autism spectrum disorder (ASD).Over the last year, his repetitive behaviors have become more intense. He hits the side of his head with his fist and presses his thumbs into his eyes, causing bruising. Any attempts to remove his dangle objects are met with aggressive behaviors, including hitting, kicking, scratching, and elopement. At school, he refuses to complete work and sometimes hits his teacher. Aggression stops in the absence of educational demands. School staff informed parents they are not equipped to handle Jimmy's behaviors.Jimmy recently presented to the specialty center for developmental-behavioral pediatric and psychology support at the request of his primary care clinician. The developmental pediatrician discussed with Jimmy's parents the possibility of a trial of medication to address disruptive/aggressive behavior if there is not improvement with initiation of behavioral strategies. The psychologist began weekly behavioral parent training visits through telehealth, including prevention strategies, reinforcement, and functional communication training. The strategies have helped decrease the frequency of elopement and aggressive behaviors. Self-injurious behaviors and refusal at school have remained constant.Despite some stabilization, limited local resources as well as the lack of evidence-based guidelines for people with both Down syndrome and ASD have impeded improvements in Jimmy's significant behavioral and developmental challenges. His parents have become increasingly isolated from critical family and community support as well. In what ways could the clinicians and community support this child and his family and prevent others from experiencing similar hardships?

Complex Attention-Deficit/Hyperactivity Disorder in a Bilingual Child with Down Syndrome and Intellectual Disability.

CASE: Maria is an 8-year-old girl with Down syndrome, described by her mother as an affectionate and social child, who was referred to developmental-behavioral pediatrics by her pediatrician because of increasing aggressive behaviors and inattention.Maria was 5 pounds at birth, delivered full-term by cesarean section, and hospitalized for 1 month after delivery because of feeding issues that required a nasogastric (NG) tube. Maternal age was 24 years, pregnancy was uncomplicated, and there were no reported prenatal exposures to substances. Additional medical history includes corrective cardiac surgery at age 11 months, mild-to-moderate hearing loss in 1 ear, and myopia.At the time of Maria's presentation to developmental-behavioral pediatrics, she was in third grade and had an IEP with placement in a substantially separate multigrade classroom and inclusion for special classes such as music and art. She had multiple academic goals and accommodations for behaviors such as eloping from class, shoving, and growling at adults; communication Picture Exchange Communication System (PECS); and extended time to complete assignments. Previously, she had attended an inclusion setting with a 1:1 aide. Maria is followed annually at a specialty clinic that focuses on the health needs of children with Down syndrome. At home, Maria's parents speak primarily Spanish, while her 2 older brothers speak primarily English. Maria has been using 3-word phrases since she was 6 years old and understands some American Sign Language. She also uses a PECS book for communication.During the visit, Maria was notably fidgety, frequently interrupted the parent interview despite having toys to play with, and became aggressive-hitting, kicking, pushing, and shoving-when she did not want to comply with directives. She used mostly single words and a variety of gestures to communicate. Both the parent-completed and teacher-completed Conners-3 (Long Version) produced elevated T-scores (>70) in the domains of inattention, hyperactivity/impulsivity, defiance/aggression, peer relations, Global Index scale, DSM-5 Hyperactive/Impulsive symptom scale, and DSM-5 Conduct Disorder symptom scale. The teacher endorsed full criteria for attention-deficit/hyperactivity disorder, consistent with combined presentation, and the parent endorsed symptoms in a similar pattern. Methylphenidate (2.5 mg) was trialed but tolerated poorly when it was titrated to 5 mg. Maria's mother reported that Maria's focus was somewhat better, but she was easily brought to tears and "not herself."What would be the next steps in Maria's evaluation/treatment? Could there be reasons for her worsening behavior other than a primary attention disorder?

Considerations in the Management of Functional Neurological Disorders in Patients with Hearing Loss.

CASE: Adam is a 14-year-old adolescent boy with hearing loss who presented to the pediatric neurology clinic accompanied by his father for evaluation of new-onset left hand tremor for a duration of 1 month. An American Sign Language interpreter was present and used throughout the visit.Adam has bilateral sensorineural hearing loss related to premature birth at 28 weeks' gestation. He uses sign language and attends a school for the hearing impaired. He has been diagnosed with attention-deficit/hyperactivity disorder (ADHD) and a nonspecific learning disorder. His ADHD symptoms are well controlled with a stimulant medication. He is independent in activities of daily living, and there is no concern for intellectual disability. His father is concerned that Adam may have anxiety, but this has not been evaluated.After careful history, it is found that the tremor was first noted the day after burglars broke into his home and stole precious belongings. Current stressors include difficulties with schoolwork and a strained relationship with an extended family member. There is no family history of tremor.The tremor was intermittent initially, with episodes lasting around 30 minutes. Over time, the tremor became more persistent. Adam is left-handed, and the tremor is now interfering with handwriting, eating, and other fine motor skills. The tremor worsens when Adam is tired or stressed and improves with relaxation. No tremor has been noted in other body parts. Adam denies any other neurological symptoms, including headache, vision changes, or gait abnormalities.On examination, Adam seemed anxious but showed no significant distress and had normal vital signs. His general examination was unremarkable. His neurological examination showed intact cranial nerves, apart from the hearing impairment. He had normal muscle tone, intact strength and coordination, and a normal casual gait. Rhythmic shaking of the left upper extremity was present with action, while maintaining posture. Using specific examination techniques, the examiner was able to alter the rhythm of the tremor, and the tremor was noted to subside when the patient was engaged with the examiner. These findings in addition to signs of suggestibility and variable frequency/direction were consistent with a functional etiology.The diagnosis of a functional neurological disorder manifesting in the form of functional tremor was discussed with the patient and his father with assistance from the sign language interpreter. Counseling regarding management consisting mainly of cognitive behavioral therapy and evaluation of possible coexisting conditions, such as anxiety, was discussed.What factors would you consider in diagnosis and management of functional neurological disorder in a hearing-impaired child/adolescent?

Addressing Self-Injurious Behavior in the Medically Complex Child: Identifying the Root Cause vs Blocking Resulting Behavior.

CASE: Gillian is a 7-year-old nonverbal, internationally adopted girl with significant visual impairment (sees shadows and objects with high contrast), moderate-severe hearing loss, autism spectrum disorder, profound intellectual disability, and a seizure disorder. She resided in an orphanage until age 4 years when she was adopted by her mother. She is referred to the multidisciplinary team in developmental-behavioral pediatrics by her gastroenterologist, who is managing her constipation, for evaluation and management of self-injurious behavior that occurs before bowel movements.Gillian's adoptive mother reported that Gillian has a history of repetitive and self-injurious behavior including hitting her head with the palm of her hand and poking her eyes. The head-hitting behavior has resulted in consistent bruising to her forehead and nasal bridge. The eye poking is of significant concern because of the possibility of resultant injury including corneal abrasion or retinal detachment. Eye poking occurs exclusively during the hour before stooling, at home and school, and is accompanied by screaming, pacing, and increased aggression toward her mother/teachers. Mother typically responds by blocking the eye poking, redirecting Gillian to the toilet, providing prompts to use calming strategies (e.g., deep breathing), or providing sensory input by rubbing her arms/back. Teachers respond in a similar way at school. Gillian's mother has tried to place goggles over Gillian's eyes during eye poking, but this resulted in increased aggressive behaviors.Gillian is not fully bowel trained but will sit on the toilet to urinate when prompted. She completes toilet-sits at home/school 5 to 7 times daily. Gillian passes small, soft bowel movements 2 to 4 times daily on a bowel management regimen consisting of polyethylene glycol 3350 17 grams twice daily and liquid senna 8.8 mg daily. Seizures are reportedly well controlled with an antiepileptic medication managed by her neurologist. Previous medical evaluation by otolaryngology, ophthalmology, neurology, and gastroenterology did not identify a source of pain or other cause for the eye poking. Physical examination reveals normal bowel sounds and a mildly distended abdomen but is otherwise unremarkable. What are your next steps for evaluation and treatment?

Diagnostic Overshadowing: Insidious Neuroregression Mimicking Presentation of Autism Spectrum Disorder.

CASE: Zac is a 13-year-old boy who presented with his parents to developmental-behavioral pediatrics seeking diagnostic clarity. He was born by vaginal delivery at full term after an uncomplicated pregnancy. Developmental milestones were met at typical ages until he was noted to have language delay and to be hyperactive and impulsive on entering preschool at age 4 years. Although he used some phrases in speech, he often used physical force to take toys from other children, rather than using words.On entering preschool at age 4 years, he was noted to have language delay (i.e., continued use of phrase speech only) and to be hyperactive and impulsive. An evaluation to determine eligibility for an Individualized Education Program (IEP) was completed and found him to have delays in cognition, receptive language, expressive language, social-emotional, and adaptive skills. His fine motor skills were in the low average range, and his gross motor skills were in the average range. He was admitted into an early childhood special education program, and aggressive behavior and hyperactivity decreased in the structured classroom.At age 7 years, Zac was re-evaluated by the school district and found to have moderate intellectual disability (ID). Chromosomal microarray analysis and testing for Fragile X syndrome were normal. He was noted to enjoy interacting with other children and adults, but his play was very immature (e.g., preference for cause/effect toys). He was able to respond appropriately when asked his name and age, but he also frequently demonstrated echolalia. He was also evaluated by his primary care physician and found to meet the criteria for attention-deficit/hyperactivity disorder, combined presentation (ADHD). Treatment with methylphenidate was initiated but discontinued after a brief time because of increased aggressive behaviors.Owing to continued significant tantrums, aggressive tendencies, and inability to communicate his basic needs, Zac was evaluated at a local Regional Center (statewide system for resources and access to services for individuals with developmental disabilities) at age 10 years and found to meet the criteria for autism spectrum disorder (ASD), and previous diagnosis of ID was confirmed. Zac received applied behavior analysis (ABA), but this was discontinued after 1 year because of a combination of a change in the insurance provider and parental perception that the therapy had not been beneficial.Zac became less hyperactive and energetic as he grew older. By the time Zac presented to the developmental-behavioral clinic at age 13 years, he was consistently using approximately 30 single words and was no longer combining words into phrases. He had a long latency in responding to verbal and nonverbal cues and seemed to be quite withdrawn. Physical examination revealed scoliosis and hand tremors while executing fine motor tasks. Seizures were not reported, but neuromotor regression was apparent from the examination and history. Laboratory studies including thyroid-stimulating hormone, free T4, creatine kinase, very-long-chain fatty acids, lactate, pyruvate, urine organic acids, and plasma amino acids were normal. Cranial magnetic resonance imaging demonstrated abnormal T2 hyperintensities in the periventricular and deep cerebral white matter and peridentate cerebellar white matter, consistent with a "tigroid" pattern seen in metachromatic leukodystrophy (MLD) and other white matter neurodegenerative diseases. Arylsulfatase A mutation was detected with an expanded ID/ASD panel, and leukocyte arylsulfatase activity was low, confirming the diagnosis of juvenile-onset MLD.Are there behavioral markers and/or historical caveats that clinicians can use to distinguish between ASD/ID with coexisting ADHD and a neurodegenerative disorder with an insidious onset of regression?

Skipping the Line: Inequality in Access to Developmental-Behavioral Care.

CASE: The mother of an 18-month-old boy contacted the developmental and behavioral pediatrics clinic to request an evaluation because of concerns that her son is not using any words and only recently began walking. The child's mother became upset when she was notified that the clinic policy requires receipt of a formal request for evaluation from the primary care physician and that the first available appointment was in 9 months. Later that day, the child's grandmother contacted the clinic and reported that she is a member of the Donor Society affiliated with the university/medical system. Membership in the Donor Society is granted to individuals who have met specific philanthropic thresholds benefiting the university. One benefit to members of the Donor Society is the ability to access subspecialty medical services for themselves and their family members, across all disciplines, within 5 business days of their request.After confirming the details of the Donor Society promise with the philanthropic department of the hospital, a small committee of professionals within the clinic gathered to discuss the implications of this promised benefit to Donor Society members. This clinic is the only source for specialized, multidisciplinary developmental-behavioral health care that accepts public insurance within a 200-mile radius. The current waitlist for evaluation is 9 to 15 months depending on the reason for referral, and approximately 75% of patients on the waitlist receive some form of public assistance and/or live in a rural or underserved area. During the discussion, it was noted that there are 2 developmental-behavioral pediatric clinicians who practice within a cash-based private practice setting in the community. The waitlist for that practice was recently reported to be 3 to 6 months depending on the reason for evaluation, but that practice also requires a referral from the primary care physician before scheduling an initial evaluation.How would you recommend that the clinicians in the developmental and behavioral pediatrics clinic respond to the request to fulfill the promises made by the university to members of the Donor Society? How does a promise such as this one made to the Donor Society affect structural inequalities within the health care system and what strategies could be used to mitigate further inequalities that may result?

Let Me Spell It Out: The Impact of Microaggression on the Health Care Professional.

CASE: Rachel is a 10-year-old White girl with attention-deficit/hyperactivity disorder and a history of trauma who presented for evaluation by Dr. Narayanaswamy, a developmental-behavioral pediatrician. A pediatric resident observed the visit with permission from Rachel's parents.During the visit, Dr. Narayanaswamy spoke to Rachel's case manager over the phone to advocate for a trauma-based day treatment program at her school. At the end of the call, the case manager asked the physician for her full name. Dr. Narayanaswamy responded with her name and asked the case manager, "Would you like me to spell it?" At that time, Rachel's father began to laugh, shook his head, and incredulously remarked, "Ugh, yeah you need to spell it." Dr. Narayanaswamy ignored the comment and completed the phone call.After the visit, Dr. Narayanaswamy explained to the resident that the father's derisive laughter was a microaggression. The resident appreciated the observation and, after a pause, asked why she chose not to defend herself when the microaggression occurred. Dr. Narayanaswamy reflected that she had refrained from responding to Rachel's father over concern that he would retaliate by providing low ratings on the postvisit patient satisfaction survey sent to all patients who received care at the institution. The granular survey results, comprising ratings in each survey subheading category for each clinician, are made public to members of her division each quarter, and low ratings are scrutinized by the leadership. Dr. Narayanaswamy thought it unfortunate that she felt inhibited in her response because this deprived the resident of observing ways to address microaggressions during an encounter, deprived herself the opportunity to respond directly to Rachel's father, and deprived Rachel from an instructive moment about racial empathy.Dr. Narayanaswamy wrote a letter about the incident to the chief of clinical affairs to inquire what recourse clinicians had in these situations and whether certain patient encounters could be flagged to prevent the postvisit patient survey from being automatically sent. The chief responded that the incident was unfortunate and praised Dr. Narayanaswamy's restraint and professionalism but denied her request to have postvisit surveys blocked for certain encounters. He shared that if a clinician were to be dissatisfied with a visit satisfaction rating, the clinician could petition for a review, and a committee would subsequently determine whether the review could be removed.How can health care professionals respond to microaggressions while maintaining a therapeutic alliance with the patient/family members and how can institutions support health care professionals in this endeavor?

Missed Opportunities and the Impact of the Pandemic.

CASE: Benjamin is a 9-month-old, former 36-week gestation infant who presented to the high-risk infant follow-up clinic with parental concern for developmental regression. His mother reported that Benjamin seemed to be developing typically, but over the past 2 months, he has lost the ability to visually track objects, is not as engaged with her as he once was, and now only rarely makes babbling sounds. His mother also reported episodes of intermittent "bursts" of stiffening of his extremities and brief staring spells. Benjamin's mother described him as a "good, quiet baby." She commented that he used to laugh and cry more frequently but has recently been "very peaceful and calm." Benjamin's mother recently relayed her concerns for developmental regression to his pediatrician during an audio-only telehealth visit. Benjamin was referred to a pediatric neurologist, and the consultation visit is pending.His mother is a 28-year-old single parent whose pregnancy was complicated by pre-eclampsia, gestational diabetes, and anxiety. Benjamin required admission to the neonatal intensive care unit because of initial feeding difficulties. After 1 week, Benjamin was discharged to home and was referred for early intervention services. Owing to the pandemic, there were delays with initiating intervention, but bimonthly virtual interaction with a representative from the infant development program was eventually provided.Benjamin's mother expressed significant concerns regarding the potential of exposing him to a pandemic-related illness because of bringing her son to in-person medical visits. In fact, because of her concerns, she attended only virtual well-child pediatric visits over the past 6 months. A thorough social history revealed that she is a former dance studio instructor. The studio closed and she lost her primary source of income because of the pandemic. As a result, she decided to not send Benjamin to child care and maintained isolation from extended family members.On physical examination, pertinent findings included poor truncal tone, lack of orientation toward sounds, and limited eye contact. The Bayley Scales of Infant and Toddler Development-Third Edition (Bayley-III) was administered, and the results indicated severe delays across all developmental areas, consistent with a diagnosis of global developmental delay.Benjamin's clinical presentation to the HRIF clinic and a history of developmental regression and intermittent body movements raised concerns for infantile spasms. He was transferred to the emergency department for evaluation and consideration for admission to the neurology service. An electroencephalogram confirmed epileptiform abnormalities consistent with infantile spasms, and he was immediately started on treatment.Impacts of the pandemic on the medical care of vulnerable/at-risk pediatric patients have included delayed receipt of early intervention services, parental fear regarding potential exposure to pandemic-related illness while seeking preventative care, increased use of virtual visit platforms for medical care and developmental intervention services, etc. What factors should be considered when providing support for these vulnerable/at-risk patients?

Disorders, Disabilities, and Differences: Reconciling the Medical Model with a Neurodiversity Perspective.

CASE SECTION: Zoe is a 25-month-old girl who presented to developmental-behavioral pediatrics with her parents for follow-up after receiving a diagnosis of autism spectrum disorder with global developmental delay and language impairment 3 months ago. Zoe was born by spontaneous vaginal delivery at term after an uncomplicated pregnancy, labor, and delivery. She had a routine newborn course and was discharged home with her parents 2 days after her birth.At 7 months, Zoe was not able to sit independently, had poor weight gain, and had hypertonia on physical examination. Her parents described her to tense her arms and have hand tremors when she held her bottle during feedings and reported that she had resisted their attempts to introduce pureed or other age-appropriate table foods into her diet. The Bayley Scales of Infant and Toddler Development Screening Test was administered and found a cognitive composite score of 70, language composite score of 65, and motor composite score of 67. Chromosomal microarray analysis, testing for fragile X syndrome, laboratory studies for metabolic disorders, magnetic resonance imaging of the brain, and an audiologic examination were normal. Zoe was referred to and received early intervention services including physical therapy, feeding therapy, and infant stimulation services. By 16 months, Zoe was walking independently and was gaining weight well but continued to have sensory aversions to some foods.At 22 months, Zoe was evaluated by a multidisciplinary team because of ongoing developmental concerns and concerning results on standardized screening for autism spectrum disorder completed at her 18-month preventive care visit. Her parents also reported concern about the possibility of autism spectrum disorder (ASD) because they both were diagnosed with ASD as young children. Both parents completed college and were employed full-time. Zoe's mother seemed to be somewhat anxious during the visit and provided fleeting eye contact throughout the evaluation. Zoe's father was assertive, but polite, and was the primary historian regarding parental concerns during the evaluation.Zoe was noted to have occasional hand flapping and squealing vocalizations while she roamed the examination area grabbing various objects and casting them to the floor while watching the trajectory of their movements. She did not use a single-finger point to indicate her wants or needs and did not initiate or follow joint attention. She met criteria for ASD. In discussing the diagnosis with Zoe's parents, they shared that they were not surprised by the diagnosis. They expressed feeling that Zoe was social and playful, although delayed in her language. Hence, they were more concerned about her disinterest in eating. They were not keen on behavioral intervention because they did not want Zoe to be "trained to be neurotypical." Although the mother did not receive applied behavior analysis (ABA), the father had received ABA for 3 years beginning at age 5 years. He believed that ABA negatively changed his personality, and he did not want the same for Zoe.How would you assist Zoe's parents in identification of priorities for her developmental care while ensuring respect for their perspective of neurodiversity?

The Value of Telehealth and a Team-Based Approach in Improving Developmental and Behavioral Care During the COVID-19 Pandemic.

CASE: Billy is a 2.6-year-old boy who presented for evaluation in the developmental-behavioral pediatrics (DBP) clinic 2 weeks before the onset of pandemic-related clinic restrictions. Billy had received early intervention for the past year because of speech and fine motor delays. Billy's parents requested the evaluation in the DBP clinic because his delayed speech and disruptive behaviors had raised concern that he may have autism spectrum disorder. Owing to the onset of the pandemic, subsequent visits were completed through telehealth with a developmental-behavioral pediatrician, psychologist, behavioral clinician, and social workers who developed a collaborative plan of care. Billy was diagnosed with global developmental delay, significant tantrums, and impulsivity but did not meet the criteria for autism spectrum disorder.Billy lives with his parents and 2 sisters in a rural area, 3 hours from the DBP clinic. Both of his parents have been treated for depression in the past and reported that school was difficult for them. His sisters, ages 5 and 6 years, receive speech/language therapy but have not required additional special education services. His family has endured recent stressors including a flooding event that caused significant damage to their home, financial difficulties, and the recent unexpected death of a close family member. Billy's disruptive behaviors have resulted in difficulty finding and maintaining child care, further contributing to parental stress and dysfunction in the home.Despite assistance from the social worker, additional developmental and behavioral support services near the family's home were not identified. Therefore, services were offered to Billy and his parents through telehealth. Billy's parents began behavioral parent training with a clinician embedded within the DBP clinic and, with direct support from his parents, Billy began receiving supplemental speech/language and occupational therapies through telehealth. Through recurrent engagement with Billy's parents and frequent communication among the behavioral clinician, developmental-behavioral pediatrician, psychologist, and social worker, Billy was able to make significant developmental progress, and his parents reported improved ability to manage his difficult behaviors.How can telehealth be used to help families navigate complex systems and obtain optimal care and support?

Responding to Discriminatory Patient Requests.

CASE: Julia is a 13-year-old White adolescent girl who was referred for psychological counseling given concerns related to mood, nonadherence, and adjustment secondary to her new diagnosis of type 1 diabetes. The family lives in a rural town located several hours from the academic medical center where she was diagnosed. After several months on a waitlist, the family was contacted to schedule a telehealth appointment with a predoctoral psychology trainee. When the scheduler informed the mother that her daughter would be scheduled with Ms. Huang, the mother abruptly stopped the conversation stating, "I do not want to waste everyone's time" and initially declined the appointment offered. When the scheduler asked about her hesitance, the mother disclosed previous interactions with doctors at the hospital who were "not born in the United States" that she felt were "textbook" (e.g., smiling even when discussing a new chronic medical condition) and "hard to understand" (i.e., because of different dialect/accent). The mother shared that she found these experiences to be stressful and felt the interactions had negatively affected Julia's care. When informed about the length of the waitlist for another clinician, the mother agreed to initiate services with the trainee.The supervising psychologist shared the mother's concerns and comments with Ms. Huang. After discussion, Ms. Huang agreed to provide intervention services, "as long as the family was willing." During the initial telehealth sessions, Ms. Huang primarily focused on building rapport and strengthening the therapeutic alliance with the family. During this time, Julia's mother was reluctant to incorporate suggested parent management strategies at home. Julia also made minimal improvement in her medical management (i.e., A1c levels remained high), had difficulty using behavioral coping strategies, and experienced ongoing mood symptoms (i.e., significant irritability, sleep difficulties, and depressive symptoms). Ms. Huang began to wonder whether the family's resistance and inability to implement recommendations were in some part because of the family's initial concerns and reluctance to engage in therapy with her as a clinician.Should Ms. Huang address the previously identified concerns with the patient and her family? What should be considered when determining how to approach this situation to ensure provision of both the best care for this patient and support for this trainee?

Navigating Medical Care for a Young Adult with Developmental Disability.

CASE: Sam is a 20-year-old young man with intermittent gastritis, autism spectrum disorder, and intellectual disability who was admitted to the hospital because of nutritional concerns. His parents have legal guardianship and report that he has had increasing frequency of refusal to eat, resulting in a 15-pound weight loss over the past 3 months. On admission, a multidisciplinary team including specialists in gastroenterology, nutrition, feeding (behavioral and mechanical), psychiatry, palliative care, and social work was engaged to develop an evaluation and care plan. Sam's nutritional assessment was significant for severe malnutrition. An upper endoscopy was performed and was without abnormalities, including signs of significant gastritis.An upper endoscopy was performed and was without abnormalities, including signs of significant gastritis.A carefully obtained history found that Sam does not have a primary care physician. He was recently hospitalized at another facility because of his weight loss and nutritional concerns but was discharged against medical advice because of parental dissatisfaction with his care. His mother shared that she has tried many strategies to encourage Sam to eat including pushing spoons of food into his mouth, syringe feeding, and verbally pleading with Sam to take a bite, but all of these have been without success.Because of concerns that persistent attempts to verbally and physically coerce Sam to eat may be contributing to his aversion to food/eating, the feeding team provided Sam's parents with education and coaching for utilization of behavioral cues to determine when Sam wanted to eat. Despite parents expressing their understanding of the importance of avoiding physical attempts to "make" Sam eat and the team palliative care physician meeting with Sam's parents to elicit their goals for Sam's care, his nurses reported observing several instances of Sam's mother tapping a loaded spoon on his lips. Because of minimal oral intake, a nasogastric tube was placed for provision of hydration and nutrition. Sam's parents consented to the use of soft restraints and the presence of a bedside patient care assistant because of Sam becoming agitated and pulling at the tube.After 10 days of hospitalization, Sam was taking about 50% of his goal intake by mouth. Unfortunately, Sam removed his NG tube, and his parents refused to allow the tube to be replaced. Sam's parents then discharged him against medical advice, stating that they believed he would recover better at home. What are important considerations in caring for patients like Sam in the hospital setting and beyond?

Autism and Access to Care During the COVID-19 Crisis.

CASE: Brian is a 6-year-old boy who was diagnosed with autism spectrum disorder (ASD) and global developmental delay at age 2. He has no other health conditions of note. Brian lives with his parents and an older brother, who also has ASD, in a rural area 2 hours from the center where he was diagnosed. Brian has a history of intermittent self-injurious behaviors (head-banging, throwing himself onto the floor, etc.) that regularly result in bruising, intense and lengthy tantrums, and aggression toward family and teachers. Brian will occasionally indicate items that he wants, but otherwise has no functional communication skills. Over the past 18 months, Brian's challenging behaviors have waxed and waned. The regional special education program is not equipped to safely manage his behaviors, and there are no in-home or center-based agencies that provide applied behavior analysis (ABA) available. Brian's developmental pediatrician initiated guanfacine (eventually adding a small dose of aripiprazole) and referred the family to psychology for weekly telehealth behavioral parent training to address behavioral concerns using the Research Units in Behavioral Intervention curriculum.1Brian's behavioral problems decreased during the initial weeks of the COVID-19 crisis, when he no longer had to leave home or attend special education. However, as summer continued, his behaviors worsened substantially (regular bruising and tissue damage, numerous after-hours consultations with his psychologist and developmental pediatrician, and one trip to the emergency department). The intensity of Brian's behaviors (maintained primarily by access to tangible items and escape from demands) made progress with behavioral supports slow and discouraging for his parents. Other psychosocial stressors coalesced for the family as well, including employment loss, limited social support because of social distancing requirements, and illness of one of his parents. The developmental pediatrician continued to modify the medication regimen over the summer, transitioning Brian from guanfacine to clonidine and increasing his aripiprazole incrementally (with clear increased benefit); hydroxyzine was also used as needed during the episodes of highest intensity.Despite the availability of best-practice guidelines for children with Brian's presenting concerns,2 a confluence of barriers (geographic, economic, ABA work force, global pandemic, etc.) present serious questions for his family and care team related to the next steps in Brian's care. Should he attend in-person school in the fall, knowing that the available program may have limited educational benefit and increase his risk of COVID-19 exposure (not to mention self-injury)? Would the potential benefits of cross-country travel to an intensive behavioral treatment program outweigh the associated psychosocial and economic stressors? How else can the virtual care team support this family? REFERENCES: 1. Bearss K, Johnson C, Smith T, et al. Effect of parent training vs parent education on behavioral problems in children with autism spectrum disorder: a randomized clinical trial. JAMA. 2015;313: 1524-1533.2. Hyman SL, Levy SE, Myers SM, et al. Identification, evaluation, and management of children with autism spectrum disorder. Pediatrics. 2020;145:e20193447.

Beyond Picky Eating.

CASE: Joseph is a 20-month-old boy who was thriving and developing well before a 4-day hospitalization for paralytic ileus at 11 months of age. Joseph is the first child born to parents who immigrated to the United States from Southeast Asia 3 years ago. Before the hospitalization, Joseph consumed 3 meals and 480 to 600 mL of milk daily. Oral feedings were restricted during the hospitalization with subsequent rejection of foods upon reintroduction of oral feeds. This resulted in 2 kg of weight loss by follow-up at 13 months. Joseph was referred to the multidisciplinary feeding and nutrition clinic at 16 months for failure to thrive, complicated by iron deficiency anemia and zinc deficiency. Joseph's feeding issues had negatively affected other aspects of his well-being; his development had stagnated, his sleep was fragmented (napping 5 times daily and frequent night waking attributed to hunger), and he had become withdrawn and irritable. By 16 months of age, Joseph was accepting only a couple of bites of solid foods by spoon or drinking small volumes (20-70 mL) of milk every 2 hours around the clock. Anthropometric z scores (World Health Organization) at 16 months: weight for age: < -3; length for age: -2.02; weight for length: -2.92; head circumference: -1.54. Physical examination revealed a cachectic and irritable child with loose skin folds. His skin was dry, and his hair was sparse. There were no perioral or perineal rashes, bruising, or features of rickets noted. Developmentally, parents reported that he was able to crawl and stand independently at the time of hospitalization, but by the time of evaluation at 16 months, he would no longer stand independently and tired quickly when crawling. He did not use any words but waved bye-bye, used gesture to indicate that he would like to be picked up, used a single-finger point to indicate his wants, and sought his parents for comfort. His fine motor skills were appropriate for chronological age. After extensive evaluation without findings of an organic cause for his failure to thrive, Joseph was diagnosed with avoidant restrictive food intake disorder (ARFID). Enteral nutrition was commenced using a nasogastric (NG) tube, and his micronutrient deficiencies were corrected. Joseph made significant gains within 2 weeks of beginning to receive enteral nutrition. Initial improvement in weight gain (25 g daily over 2 wk, resulting in weight for age z score improving to -1.85) was rapid. Joseph regained ability to stand and began taking a few independent steps. He also acquired the ability to use one word spontaneously and appropriately. His sleep improved, his previously cheerful disposition returned, and he became much easier to engage. Unfortunately, at 20 months, Joseph's parents chose to have the NG tube removed, and his growth began to falter. What would be your next steps in Joseph's care?

Beyond Developmental Supports for a Child Refugee.

CASE: Zahid is a 10-year-old boy who moved to the United States 18 months ago with his parents and 3 younger siblings. He and his family are refugees from Syria. Zahid was born in Syria after an uncomplicated pregnancy and delivery. Zahid's parents first became concerned about Zahid's development when he was 9 months old because he had not started cooing or babbling and did not respond to his name. At 3 years, a doctor in Syria expressed concern that Zahid may have autism spectrum disorder; however, his parents did not know what symptoms triggered the concern and believed his behavior was because of his ongoing exposure to trauma.Zahid underwent a full evaluation 1 year ago in the United States and was found to meet the criteria for autism spectrum disorder. Coaching was provided to his parents in obtaining appropriate educational support for their son, and a referral was placed for applied behavior analysis (ABA) to be provided by an organization in the community. After several meetings between the parents and school administration, an Individualized Education Program was initiated. Despite acceptance into a community-based ABA program, Zahid has not begun the intervention because of transportation difficulties. In-home ABA was offered but was refused by the family.The family is under significant stress. Zahid is nonverbal and has displayed behaviors affecting safety, including wandering/eloping and turning on kitchen appliances resulting in a kitchen fire. Zahid's mother completed high school, and his father completed sixth grade. Both parents speak limited English, and neither is employed. The family receives financial support through the government, but this will be ending soon. Zahid's father is concerned that employment outside of the home will further limit his ability to transport Zahid to necessary appointments. Zahid's mother does not drive. Zahid's father requests that the physician provide a letter requesting exemption from requirements to participate in work or training programs because of Zahid's needs. How would you respond to this overwhelmed father?

The Complexity of Making a Diagnosis.

CASE: Carl is a 12-year-old boy midline, with neurologic malformation, ataxia, bilateral strabismus with presumed residual visual impairment after surgical repair, and intellectual disability. He was referred to developmental-behavioral pediatrics for evaluation of possible autism spectrum disorder (ASD).Carl had a benign prenatal course and was born via spontaneous vaginal delivery at term. Bilateral strabismus was noted at birth. Despite surgery to address strabismus, Carl continues to be unable to raise his eyes above midline, and his visual status, including visual acuity, depth perception, color perception, and visual fields, is unclear. A recent auditory brainstem response evaluation was consistent with normal hearing. Multiple variants of undetermined significance were reported on chromosomal microarray. Magnetic resonance imaging of the brain demonstrated multiple malformations in the brainstem and posterior fossa. Electroencephalogram was without evidence of seizure activity. There is no family history of genetic disorders, brain malformation, or learning/cognitive disability.Carl was not able to sit independently until 2 years of age and did not walk until 5 years. Now, he can walk short distances by himself but is often unsteady on his feet. He uses a wheelchair but does not propel himself despite a physical therapy assessment indicating that he has adequate strength to do so. Carl spoke his first word at 5 years, and his parents report that he currently uses approximately 50 words spontaneously and appropriately. His speech is difficult to understand because of articulation errors. He can identify colors and numbers but has not mastered concepts of size and comparison. Standard scores for the conceptual, social, and practical domains and the General Adaptive Composite were in the mid-50s on the Adaptive Behavior Assessment System-3, as reported by the parents.At home, Carl spends much of his time watching videos on his iPad in his bedroom. At school, he tends to separate himself from others on the playground after lunch. Parents believe this to be due to communication difficulties and mobility limitations. Parents report that when he likes another classmate or family member, he will stay in the same room as that individual but will not try to interact. Teachers report that when a well-liked classmate sits near Carl, he will smile and say the classmate's name. He will not attempt to initiate or participate in conversation. A picture exchange communication system was introduced at school because of difficulties understanding his speech. Attempts have also been made to train him to use a keyboard to communicate. Carl has demonstrated limited interest in using either system. He has several repetitive behaviors such as hand flapping, body rocking, and rubbing his nose with a specific spoon. Repetitive, nonpurposeful vocalizations are reported at home and at school. Carl requires assistance with toileting and bathing because of refusal to complete the tasks otherwise. It is common for Carl to cover his ears in response to hearing specific sounds such as fire alarms and emergency sirens.The Autism Diagnostic Observation Schedule, Second Edition, Module 1 was administered to assess for behaviors consistent with a diagnosis of ASD. Carl scored within the severe range of symptoms and was diagnosed with ASD. Recommendations were made for completion of a functional vision assessment and implementation of home- and school-based applied behavior analysis programs. In addition, further testing with an assessment developed for children with low language abilities was recommended to clarify his nonverbal cognitive abilities. What else would you consider when making recommendations for Carl's care?

Not Really "The Same Thing".

CASE: Susie is a 10-year-old girl who is followed by a developmental-behavioral pediatrician for attention-deficit/hyperactivity disorder (ADHD), combined type and challenging behaviors. Susie has been treated with extended-release methylphenidate HCl 36 mg daily and extended-release guanfacine 1 mg daily for the past year. Susie attended an evidence-based summer treatment program for ADHD for 8 weeks over the summer, and the family has continued to attend monthly behavioral therapy visits with a local child psychologist.Parents report that, until recently, Susie's symptoms of ADHD were well controlled. Susie had a positive start to the school year but has had increasing difficulties over the past month. Specifically, Susie's classroom teacher has communicated that she is having difficulty maintaining attention, is easily distracted, and is missing several homework assignments. While obtaining a careful interim history, Susie's parents report that there have not been any changes or new stresses in the home or school environments. They were pleased with the behavioral guidance provided during the summer treatment program and have continued to use those strategies.Further discussion revealed that parents noticed a change in the appearance of Susie's methylphenidate tablets when the prescription was last filled. Although the previous prescriptions were filled with oblong, white tablets, the most recent prescription was filled with round, white tablets. Susie's parents contacted the pharmacy and were told that Susie's prescription was filled with "the same thing as before." The pharmacist explained that the tablets looked different because the manufacturer had changed in order to comply with the preferences of Susie's insurance provider. What would be your next steps in Susie's care?

Maintaining Safety and Planning for the Future.

CASE: Kevin is a 12-year-old boy with autism spectrum disorder, intellectual disability (nonverbal IQ scores in mid-40s), and attention-deficit/hyperactivity disorder who has been followed up by a developmental-behavioral pediatrician (DBP) and a child psychologist for medication and behavioral management since he was 4 years old. Kevin was placed in the care of his great-great-aunt shortly after he turned 2 years of age because of concerns of neglect. She is now his legal guardian.Kevin is predominately nonverbal but does use a few single words to make requests or label items. He attends a public school and receives full-time special education support. He has a personal care assistant (PCA) who provides in-home support 5 to 6 days/wk for 3 to 4 hours at a time. The PCA is working on toilet training, using a "clock-training" approach, and also takes Kevin outdoors to play or on short outings during her visits. In his free time, Kevin prefers to watch cooking shows on television.Over the past year, Kevin's behaviors have become more concerning. There have been several episodes of Kevin waking up during the early morning hours and going to the kitchen to "cook." After one of these episodes, his guardian was not aware that Kevin had woken up until the next morning when she found a concoction of corn starch, coffee grounds, cottage cheese, and powdered drink mix in the blender. Kevin had also woken up during the night and ventured out of the house into the back yard. His guardian had woken up immediately as the alarm system sounded when he opened the outer door from the house to the yard.A door alarm was added to Kevin's bedroom door so that his guardian would be alerted when he leaves his bedroom; however, the alarm is not used consistently because there are times when the alarm cannot be found at bedtime. Kevin's guardian was able to obtain a GPS device for him to wear on his shoe from the local police department. He wears this without resistance every day.Kevin's guardian is in her mid-70s, and she has had several health issues over the past 2 to 3 years. There are no other family members who are willing or able to care for Kevin if his guardian were no longer able to. The DBP and child psychologist have encouraged Kevin's guardian to explore long-term residential care options with the state agency that provides support for individuals with intellectual disabilities and with Kevin's insurance provider, but the guardian is very reluctant to do this. She fears that Kevin will be removed from her care or placed in a "home" where someone will "do bad things to him."What else would you recommend or actions would you take to support Kevin's guardian in ensuring Kevin's safety and planning for his future care?