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Challenging Case Blog

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

Friday, May 10, 2019

Peter is a 26-year-old group home resident in Austria with a history of poor peer relationships, including being bullied, and previous diagnoses of attention-deficit hyperactivity disorder, Asperger syndrome, social anxiety, depression, and developmental coordination disorder. Consultation from our international neurodevelopmental team was requested for severe anxiety and avoidance of social interactions. He reported 4 or more spontaneous anxiety episodes per day. Anxiety triggers included returning to his group home from his vocational rehabilitation program each evening or returning to the group home after weekends at his parents' house. Each Sunday evening, in anticipation of returning to the group home, Peter engaged in tantrums, including screaming and throwing objects and suicidal threats without intent, but not direct aggression toward family members. He phoned his mother several times per day on weekdays.


Peter's early history was significant for hyperactivity, impulsivity, aggression, and socially intrusive behavior; he repeated kindergarten and by first grade was characterized as motorically clumsy and "too much in [peers'] personal space." He played alone in kindergarten and had poor social boundaries; when older, he evidenced reduced social perception, and his family reported he did not notice when peers made fun of him. His language developed normally, but he had a "sophisticated style of speaking" and as an adult continued to have trouble understanding gestures, jokes, and social themes in movies.


Between ages 7 and 11 years, Peter had been bullied and ostracized by male peers but did well academically, always got along well with adults, and preferred to play with girls. Exclusion by peers persisted through high school, at which time his independent functioning declined and he required his mother's assistance with organizing his materials. At age 15 years, Peter repeated a grade so that he could change classmates, and by the equivalent of his junior year, his grades deteriorated. He had several psychiatric admissions for depression and destructive outbursts (to avoid going to school) and was diagnosed with Asperger disorder. At age 18 years, Peter refused to return to school. He lived at home with his parents, only leaving the house to accompany them on errands, until placed in a group home for people with mental health disorders at age 20 years. At age 26 years, he is sharing a supported-living apartment with 2 young adults with chronic psychiatric disorders. He works in 3 highly structured sheltered workshops for a few hours each and becomes easily overwhelmed in unstructured situations and/or in situations in which he anticipates being reprimanded or letting someone down. Despite a strong interest in marine biology, anxiety prevents him from considering college.


How would you proceed with diagnostic testing or intervention to help this young man?

Monday, March 25, 2019

Thomas is a 12-year-old boy with autism spectrum disorder who presents to his primary care clinician with symptoms of worsening mood in the last 3 months. On review of his last school testing, his cognitive abilities are found to be within the average range, with a relative vulnerability with his processing speed. He can speak in sentences to communicate and answer questions, but he rarely picks up on conversational bids. He has had difficulties developing friendships and often prefers to play by himself.


Thomas has a long history of some features of anxiety and depression for which it was recommended that he establish care with a therapist, but his family has had a hard time finding a provider for him. At this visit, the mother reports that for the past several months he has been more anxious, sad, and easily overwhelmed. He seems irritable at home and school and cries often. His family has been advocating for him to receive increased school supports, as school is a source of anxiety for him, but there are no recent changes in school services. There is a family history of both anxiety and depression. Given his worsening mood functioning, Thomas was started on selective serotonin reuptake inhibitor (SSRI) medication in addition to again recommending a therapist. Weekly phone call check-ins and an in-person clinic visit in 1 month are planned.


About 1 month after starting the SSRI medication, he is still not showing any improvement in mood functioning, and his family reports he seems more "sluggish" than usual. There are no side effects reported with the medication, and the dose is increased to see whether it will help. However, about 2 weeks later, he is seen again in the clinic because there are increasing concerns. He continues to be "sluggish." During the clinic visit, he lies down on the examination table, sometimes holding his head off the edge of the table, which he has never done before. He responds very slowly to the questions and often says "I don't know, I don't know," almost in an automatic way. His mother reports that he is now engaging in some repetitive hand movements which he had not done previously. He is no longer able to shower independently. He is still eating and drinking adequately. What would you do next?

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?