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Challenging Case Blog

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

Tuesday, February 12, 2019


Charles is a 10-year-old African-American male who presents to the Developmental Behavioral Pediatrics Clinic for evaluation of his learning. His primary care provider (PCP) was concerned that his developmental delays were negatively affecting his ability to engage in his homeschooling curriculum and also that his mother seemed unaware of the severity of his delays. Neuropsychological evaluation had been recommended by the PCP several times in the past, but the family declined. At one point, the PCP had considered potential child protective services (CPS) referral for medical neglect because of missed appointments and lack of follow-through on recommendations, which motivated the parent to bring him to this appointment.

Medical history was significant for failure to thrive and hypotonia in infancy. Charles received physical therapy through early childhood for hypotonia and motor coordination deficits. His mother removed him from public school and initiated homeschooling in kindergarten after he suffered a dental injury at recess of which she was not notified. The current homeschooling (fourth grade) approach was described as “off and on” activities for 3 hours daily. His mother acknowledged that she struggled to get him to participate as he preferred using the computer and tablet rather than doing school work, and they also argued regularly about his impulsive eating. The patient's mother also described her own medical conditions that contributed to a high degree of stress and fatigue, which she felt made homeschooling more difficult.

On examination, the patient was obese and had widely set, almond-shaped eyes; a wide-based gait; an immature pencil grasp; and a mild truncal and appendicular hypotonia. Performance on the Kaufman Brief Intelligence Test, second edition, was below average for the verbal scale (78) and low average for the nonverbal scale (89). On the Wechsler Individualized Achievement Test, third edition, he was unable to perform any multiplication, could not write his own last name (was practicing tracing at home per maternal report), and read at a below first-grade reading level (standardized scores could not be calculated). His conversations with the examiner were mainly limited to the topic of video games. He spoke in short sentences with approximately 85% intelligibility but with coordinated gaze. He appeared mentally exhausted as testing progressed.

Feedback to the parent included concern for a learning disability possibly associated with a genetic condition such as Prader-Willi syndrome (because of the history of hypotonia and impulsive eating), and genetic testing was recommended. Because of Charles' difficulty accessing the homeschool curriculum, a special education evaluation through the local public school district was also recommended, but his mother resisted, stating that she felt public special education “keeps children like him down” by focusing primarily on African-American children and stigmatizing their differences.

The mother does not return phone calls made 1 month later to follow-up on considering a special education evaluation, and team members raise concern about medical neglect. What would you do next?



Friday, December 28, 2018

James is a 7½-year-old boy born in Vietnam to a mother with mental illness. Little is known about his early history; he spent the first 6 months of his life in an orphanage, followed by foster care and a disrupted adoption. He moved to the U.S. at age 1½ and joined his current adoptive family at age 4 years. Shortly thereafter, James' psychiatric nurse practitioner diagnosed him with attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). Pragmatic language and syntax deficits were also noted from an early age.

James is now exhibiting anxiety, perseverative beliefs, and regression in his toileting. He began “talking to himself in his room” and using neologisms. A school-based evaluation resulted in educational diagnoses of ADHD and ASD based on social disconnectedness and invading others' personal space. James' parents felt “something else was going on” and sought a second opinion with a multidisciplinary team (consisting of a pediatric psychologist and a developmental pediatrician). Considering James' history, previous assessments, and their assessment battery (Behavior Assessment System for Children, Behavior Rating Inventory of Executive Function, and Autism Diagnostic Observation Schedule, and Rorschach Inkblot Test), the team characterized his current symptoms as an emerging psychotic disorder.

Several consultations occurred over the next 9 months of the school term. First, clinicians in the psychiatry department confirmed symptoms of functional decline, cognitive disorganization, and hallucinations, which were attributed to post-traumatic stress rather than a psychotic disorder. Second, adding to the diagnostic uncertainty, when James started an atypical antipsychotic medication and was under good symptom control, the school team believed that ADHD—not psychosis—best accounted for his presentation. There was significant contention between the medical team and consulting school psychologist regarding the extent to which data from the parental history and Rorschach should be considered in formulating the patient's diagnosis.

Two-and-a-half years later, James was weaned off risperidone to manage a new side effect of tics. He subsequently manifested significant paranoia with reactive aggression toward peers for imagined slights and insults that he could “swear he heard.” A different school-contracted psychologist's re-evaluation corroborated the diagnosis of schizophrenia based on the several years of unfolding clinical observations. Acting from the supposition that early-onset psychosis was too rare and too stigmatizing a condition to apply to a “kid who's just having trouble paying attention,” the first school psychologist remained adamant that ADHD and ASD were the most appropriate diagnoses, and James would be ill-served “pumped full of neuroleptics.”

He returns now to the original Developmental Behavioral Pediatric consulting team. What would you do to try to bridge this impasse?




Monday, November 26, 2018

A 6-year-old boy with a diagnosis of autism spectrum disorder (ASD) presented to primary care for a new-patient, transfer-of-care evaluation. At the initial encounter, the patient used a maximum of 60 words and was receiving speech and language therapy (SLT) through school. Family history was positive for seizures in the father and paternal grandfather as well as ASD in an older brother. Referrals to genetics, private SLT, and an autism specialist were offered, although the latter was declined by family. The subsequent genetics evaluation resulted in discovery of a small gain on chromosome 1q42.2 and associated partial duplication of the DISC1 gene. The assay could not determine the exact clinical significance of the abnormality, but similarly sized and located abnormalities involving the DISC1 gene are reported in some patients with ASD and developmental delay. During a follow-up pediatrics appointment, the father expressed his wish for further evaluation of causes of autism spectrum disorder (ASD) and requested an electroencephalography (EEG) evaluation. The family concomitantly reported slow improvement in speech with therapy, the use of up to 200 words, and the ability to count to 10. The primary care physician reiterated that EEG and imaging studies are not indicated for an isolated ASD diagnosis with no supporting history or physical examination indications. The clinician discussed ASD-recommended therapies with the family. Neurology referral was made per parental request. The patient subsequently presented to neurology at the age of 7 years. The parents reiterated during the initial neurologic developmental history that the patient had shown some improvement with speech and language therapy in the past 18 months, knew as many as 200 to 300 words, and could put some words together into simple sentences. Gross and fine motor development were felt to be within the normal range for age. The parents also reported some scripting, and mild echolalia was noted on examination. Notably, there was no history of language regression. Apart from language delay, the neurologic examination was otherwise normal at initial evaluation. Given this clinical picture, ASD treatment options were again discussed. Despite education, parents continued to request for EEG evaluation as a workup for the etiology of the patient's ASD. Electroencephalography was ultimately ordered owing to the strong and repeated paternal request despite denial of any seizure-like episodes in the patient. EEG unexpectedly showed extremely frequent, almost constant focal electrographic seizures arising from the T3/T5 electrodes in the speech area of the left temporal lobe, prompting the initiation of oxcarbazepine maintenance therapy. Because of the noted abnormalities on EEG, magnetic resonance imaging (MRI) was obtained. Mild abnormalities were noted on MRI study including possible minimal inferior cerebellar vermian hypoplasia, mildly prominent bodies of the lateral ventricles, and nonspecific, nonenhancing punctate T2 hyperintensities in the subcortical white matter. These findings were not felt to be clinically relevant to the patient's presentation or seizure evaluation. No repeat imaging was ordered. Hindsight is always 20/20. As a clinician evaluating the patient initially, would you have pursued further workup sooner?

Monday, November 5, 2018

Grant is a 13-year-old boy with trisomy 21 who presents with his mother for concerns regarding the emergence of several new disruptive behaviors. While he is verbal, he also communicates through an augmentative communication device. He currently attends a residential school. Over the past 2 months, he has begun spitting at the staff, engaging in self-injurious behaviors, placing his hands in his pants, and frequently talking about “pee and poop.” Notably, Grant has undergone several changes to his educational placement and medical health over the past several months. He recently transferred to his current residential school from another placement to be closer to his family, although this has meant that Grant was unable to work with his long-time aide. Additionally, most of the students at Grant's current school are significantly lower functioning than him, such that Grant is one of the few verbal children.

Approximately 3 months ago, Grant underwent significant dental work under anesthesia. Grant had previously taken an alpha-agonist for behavioral management, although he was weaned off this 4 months ago because of increasing somnolence increasing somnolence. Grant's recent behavioral challenges make performing community and home activities more challenging.

Grant's behavioral history is notable for a previous episode of behavioral and emotional challenges 18 months ago. This occurred in the setting of transitioning to a new classroom with higher academic and behavioral expectations and decreased time spent with his family. These behaviors had consisted of self-injurious behaviors and tantrums consisting of crying and social withdrawal. This was managed by increased behavioral and academic supports via trained teachers and aides, medication management, and optimizing his augmentative communication. After these interventions, Grant's behavioral and emotional functioning improved and remained stable until this current episode.

Grant's mother is concerned about what may be causing these emerging behaviors and wondering if any of the recent educational and medical stressors could be contributing. What do you do next?


Tuesday, September 25, 2018

Andrew is a 17-year-old male with Trisomy 21, commonly known as Down Syndrome (DS), and accompanying severe intellectual disability who presents to your primary care office with his father for the first time to establish care and assistance with transition. Andrew has a history of complete AV canal that was repaired as an infant as well as poorly controlled infantile spams. Currently, he struggles with constipation, esophageal strictures, medullary nephrocalcinosis, urinary retention, sleep dysregulation, G-tube dependency, and hip dysplasia. 

Andrew walked at 11-12 years of age. Currently, he ambulates on his feet at home and in a wheelchair out in the community. He is non-verbal but can imprecisely sign for “more” and understands a few words. Father reports his main concern is longstanding non-suicidal self-injury (NSSI) and aggression. His self-injury consists of head banging against hard objects such as concrete floors and biting or scratching himself to the point of bleeding. Over the past 13 years, he has been prescribed over 10 different psychotropic medications, including various typical and atypical antipsychotics, selective serotonin reuptake inhibitors, benzodiazepines, mood stabilizers, and alpha agonists, all of which were discontinued due to the perception of undesirable side effects or lack of efficacy. His current medications include aripiprazole, olanzapine, levetiracetam, clorazepate, and trazodone. To rule out causes of irritability, you order a brain and spine MRI, metabolic testing (for causes of NSSI such as Lesch-Nyhan), an autoimmune work-up (for causes of pain or inflammation such as juvenile idiopathic arthritis), and hearing/vision testing, which are all normal. Prior testing by sub-specialists (he is followed by Gastroenterology, Sleep Medicine, Orthopedics, Nephrology, Neurology, Cardiology and Psychiatry) included normal renal ultrasound and no clear sources of gastrointestinal pain. However, key providers are spread amongst multiple institutions and do not regularly communicate.

Andrew lives with his parents who are highly educated and very dedicated to his health and wellness. Mother travels frequently for work and father is Andrew’s full time caregiver. Despite remaining ostensibly positive, father reports significant caregiver burnout and fatigue. 

Over the next several months, Andrew continues to experience worsening NSSI necessitating medication changes despite active involvement in ABA therapy. During this time, he presents to the emergency room multiple times for irritability and self-injury. On exam, he is aggressive, irritable, has bruises on his forehead and scratches on his skin, and has intermittent vertical gaze deviation that was noticeable to parents. The rest of his physical and neurological exam was unremarkable and revealed no asymmetry, clonus, hyperreflexia, or changes in muscle tone. While examining his extremities, joints and abdomen, there was no obvious source of pain.
 
What are your next steps? How would you support this family, both in the immediate management of his self-injury as well as long term care needs for this medically and behaviorally complex adolescent?