Journal of Developmental & Behavioral Pediatrics

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Challenging Case Blog

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

Monday, May 1, 2023

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?​

Friday, March 31, 2023

​​Sam is an 11-year-old young boy with autism spectrum disorder (ASD), unspecified anxiety disorder, and attention-deficit/hyperactivity disorder, combined presentation. He was initially diagnosed with ASD at 6 years of age after evaluation by a developmental-behavioral (DB) pediatrician. He presents to the DB pediatrics clinic to reestablish care. He established care with psychiatry 5 months ago after his school referred him to a hospital-school-community telepartnership bridge program following statements of self-harm and numerous concerns with his behavior, including elopement.

Sam currently receives special education support under the classifications of “Emotional Disturbance” and “Speech Impairment.” His parents report significant challenges with having his medical diagnosis of autism recognized by the school, which has impeded him receiving educational support as a student with autism. This has resulted in Sam being penalized for challenging behaviors related to his neurodevelopmental disorder. He is not currently making meaningful progress in the school setting. Sam currently demonstrates avoidance, physical and verbal aggression, and difficulty adapting to change across settings. In addition to difficulties advocating for more individualized support at school, Sam has never received applied behavior analysis (ABA) therapy because of challenges obtaining insurance approval. There are no additional barriers to accessing care, such as language, geographic, or socioeconomic factors.

Sam's visit to reestablish care with DB pediatrics consisted of an individual clinician evaluation model. The Childhood Autism Rating Scale, Second Edition, (CARS-2) and Vineland Adaptive Behavior Scales, Third Edition (Vineland-3), were administered, and Sam continued to meet DSM-5 criteria for ASD following re-evaluation. A new referral for ABA therapy was submitted. Shortly afterward, his family received an insurance denial letter specifying that additional developmental testing was needed before ABA therapy would be approved. His clinician called the insurance company to appeal this decision but was unsuccessful. Sam was then seen by the DB pediatrics embedded psychologist, who completed additional testing, including assessment of cognitive functioning, administration of the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2), and autism-specific rating scales. This process led to further delays in access to ABA services. Throughout this process, the parents reported feeling helpless and frustrated given the barriers faced in receiving appropriate services. What are your next steps to advocate for supports through the school and insurance company?

Friday, March 31, 2023

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?

Thursday, December 29, 2022

D is a 16-month-old boy with developmental delays who presented for initial intake in the developmental-behavioral pediatrics (DBP) clinic. He was born at 39 weeks' gestation without medical complication during pregnancy or delivery. Newborn screen was confirmed normal. Parent-reported developmental history was significant for delayed receptive and expressive language and autistic-like behaviors, including preference for solitary play, decreased eye contact, disinterest in family members and toys, sensory-aversive and sensory-seeking behaviors, and motor stereotypies. Selective eating, dysregulated sleep (including hypersomnolence and frequent awakenings with head-banging and screaming), apneic spells, and staring episodes were reported. Early intervention services were in place.

He underwent evaluation for autism spectrum disorder (ASD) at 19 months, which confirmed a level 3/3 diagnosis. Subsequent sleep study revealed moderate obstructive sleep apnea, so he underwent a tonsillectomy and adenoidectomy. Audiology study was normal. Neurology consult revealed nonfocal examination and normal electroencephalogram.

Hypersomnolence continued, now accompanied by increasingly unsteady gait and a decline in ability to self-feed or take liquids. At age 22 months, he presented for routine video electroencephalogram but was admitted to the medical unit because of increased somnolence without associated seizure activity. Evaluation over 2 days (video electroencephalography, comprehensive laboratory studies, including lumbar puncture and acute urine toxicology screen, and cranial magnetic resonance imaging) yielded results within normal limits. D awoke typically on day 3 of his hospitalization with normal eating and drinking and was discharged.

D was in his usual state of health until he saw his primary care provider 1.5 weeks later for follow-up of acute otitis externa and was found to be hypersomnolent, responding only to noxious stimuli (sternal rub) in the office. He was readmitted to the hospital and underwent repeat evaluation for altered mental status with nasogastric tube placement for enteral feeds. There was no evidence of cardiovascular, neurological, or respiratory compromise, nor was there bacterial infection or any further decompensation.

He improved during the 9-day hospital course and was described at the end as “highly interactive and well-appearing” such that the team questioned his ASD diagnosis and whether he even had global delay. Just before planned discharge, serum toxicology screen resulted positive. The suspected child abuse assessment team was consulted, a report was made to Child Protective Services, and D was discharged to the care of other family members.

Factitious disorder in another or caregiver-fabricated illness was subsequently confirmed. All symptoms previously reported and observed during the evaluation at 19 months resolved after D's placement with other family members; re-evaluation for ASD at 27 months demonstrated no pathological symptoms, and the ASD diagnosis was removed. He continues with mild language delays but is otherwise engaged, interested, affectionate, and meeting developmental milestones.​

Thursday, December 1, 2022

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?