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Challenging Case Blog

Viewpoints from the interdisciplinary leaders in optimal developmental and behavioral health for all children.

Wednesday, May 5, 2021

Phillip is a young man born with hypoplastic left heart syndrome referred to your practice for a range of mental health concerns. He underwent palliation to an extracardiac Fontan in infancy and experienced multiple complications over the next decade including valvular regurgitation and arrhythmias necessitating a pacemaker. Phillip continued to have systolic heart failure with New York Heart Association class II symptoms, managed with 4 medications and anticoagulation.

Despite this complex history, Phillip had intact cognitive abilities, achieved typical milestones, and performed well academically in secondary school. His first year of college proved to be more challenging, and Phillip presented to the outpatient psychiatry service with an acute depressive episode. His family history included depression, without known attention-deficit/hyperactivity disorder (ADHD). Treatment, including a selective serotonin reuptake inhibitor, cognitive behavioral therapy, and family support, led to near resolution of his symptoms of depression.

In subsequent appointments, Phillip described a long history of inattention and disorganization with onset in childhood. This contributed to the decision to leave college, despite remission of symptoms of depression. Phillip was unable to study for any extended period without “perfect conditions,” described as the absence of potential distractions except for background music. Despite attempts to maintain “perfect conditions,” Phillip was often off task and “hyperfocusing” on irrelevant topics. Phillip struggled with planning and time management and would misplace items daily. Moreover, although the importance of self-care was well understood, Phillip often forgot to take his cardiac medication or to exercise, and he admitted to inconsistent sleep habits because of losing track of time.

Based on a comprehensive psychiatric evaluation including retrospective report from a parent, Phillip was diagnosed with ADHD, coexisting with major depressive disorder, in remission. Significant ADHD symptoms were documented by interview, self-report, and administration of an abbreviated neuropsychological battery.

Considering concerns regarding use of stimulants in a patient with congenital heart disease, including death, stroke, and myocardial infarction,1,2 how would you assess the risks-benefits of use of stimulants with Phillip?

Friday, April 2, 2021

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?

Wednesday, February 10, 2021

​Emily is a 10-year-old girl who is in fifth grade. She has known congenital blindness secondary to septo-optic dysplasia with bilateral optic nerve hypoplasia and precocious puberty. Emily was referred to a Developmental-Behavioral Pediatrics clinic for concerns of academic, social, and language challenges.

Emily was born at term gestation after an uncomplicated pregnancy. At 4 months of age, she underwent ophthalmologic evaluation because of nystagmus, reduced visual tracking and response to light, and increased startle response to touch. An magnetic resonance imaging of the brain and orbits demonstrated bilateral hypoplastic optic nerves and the absence of posterior pituitary. Subsequent endocrinological evaluation for pituitary function was reassuring. Emily's early developmental milestones were delayed across all domains. She participated in early intervention programming including speech/language, physical, and occupational therapy with interval improvement in skills. She also received supports for low vision. In the elementary school, she received supports and services for low vision in a general education classroom. It was observed that Emily had reduced interest in her peers, a strong preference for routine, and distinctive play interests. As elementary school progressed, Emily had increasing challenges with academic achievement, despite performing well on formal testing in second grade.

At a recent ophthalmology visit, Emily's best-corrected visual acuity was noted to be 20/800 in each eye.

Neuropsychological testing was completed with visual accommodation and administration of measures with minimal visual requirements. Cognitive testing revealed variable verbal intellect and language skills. Academic testing revealed strong reading abilities and a relative weakness in math. Adaptive measures were notable for reduced function and highlighted social vulnerabilities. Parent measures regarding mood and behavior were not concerning.

Emily's speech was noted to have a very distinctive prosody with notable response latency. Echolalia and scripting were appreciated, and Emily often asked about names and used made-up words. When excited, Emily flapped her arms and hands, jumped up and down, or clapped her hands quickly. Socially, Emily was engaged and seemed eager to please. She was able to participate in back-and-forth conversation. Although she often responded to social bids, she frequently directed the conversation to her own areas of interest. Emily looked in the direction of the examiner when talking to the examiner and when the examiner spoke. Although a diagnosis of autism spectrum disorder is under consideration, what special considerations are necessary in the context of congenital blindness?

Thursday, December 31, 2020

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.1

Brian'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?

Friday, October 23, 2020

​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?