Challenging Case Blog

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

Friday, September 8, 2017

Tuesday, September 6, 2016

Kendra is a 4-year-old girl with Autism Spectrum Disorder (ASD) who presents for follow-up of feeding problems to her pediatric clinician. Kendra is an only child in a family where both parents are scientists. Feeding concerns date to infancy, when she was diagnosed with GERD associated with persistent bottle refusal, and the acceptance of few pureed foods. At 13 months, milk and peanut allergies were diagnosed. Following a feeding clinic evaluation at 24 months, Kendra was prescribed a soy milk supplement and an H2 blocker. There was no concern for oral-motor dysfunction. She was also referred to Early Intervention for feeding therapy. However, her parents terminated participation after six months because she became anxious and tantrumed prior to treatment groups.


Kendra was seen in another feeding program at age 3 years;zinc, folate, thyroid, and a celiac panel were normal and an endoscopy was negative for eosinophilic esophagitis. She began individual feeding therapy, where concerns for rigidity, difficulty transitioning, and limited peer interactions led to a neuropsychological evaluation. Kendra was diagnosed with an ASD and Avoidant/Restrictive Food Intake Disorder (ARFID). Her cognitive skills were average, and expressive and receptive language skills were low average.


Kendra’s diet consisted of French fries, Ritz crackers, pretzels, and 32 ounces of soy formula daily. She had stopped accepting Cheerios and saltines two months prior. She controlled other aspects of feeding, insisting on a specific parking spot at a fast food restaurant and drinking from a particular sippy cup. Her parents accepted these demands with concern about her caloric intake, which they tracked daily.


Following diagnosis with ARFID, Kendra resumed feeding therapy using a systematic desensitization approach with rewards. At the first session, Kendra kissed and licked two new foods without gagging. Her mother appeared receptive to recommendations that included continuing the “food game” at home, replacing one ounce of soy formula by offering water each day, limiting between-meal grazing, and refusing specific feeding demands. [does this describe elements of  the “food game”?]


Currently, Kendra’s parents plan to discontinue feeding therapy with concerns that the treatment was “too harsh.” Her father produces logs of Kendra’s caloric and micronutrient intake as evidence that Kendra did not replace missed formula with other foods, and reports that Kendra subsequently became more difficult to manage behaviorally. Kendra’s father now demands to see randomized-controlled trials of feeding therapy approaches. Kendra’s weight is stable, but she has now limited her pretzel intake to a specific brand. How would you approach her continued care?


Monday, May 2, 2016

​A 5 year old non-verbal male with autism spectrum disorder (ASD) was admitted to
inpatient pediatrics with new onset agitation and self-injurious behavior. His parents described
him as a pleasant child without previous episodes of self-injury. Four days prior to admission,
the parents noted new irritability followed by two days of self-injury to the face without clear
precipitant. His hitting intensified with closed fist to face, and he required parental physical
restraint to prevent further injury. Car rides and ibuprofen provided only temporary relief. He
consumed minimal liquid and ate no solid food for two days. The parents denied any changes to
the environment or routine and denied recent travel, sick contacts, fevers, cough, otalgia,
vomiting, diarrhea, and constipation. The patient had been diagnosed with ASD at age eighteen
months old but had no other significant medical history.

On examination, the child was alert but distressed and restless, wearing padded mitts as
his parents attempted to calm him by pushing him in a stroller. He had multiple areas of severe
bruising and facial swelling in the right periorbital area, cheek, and jaw. The rest of the physical
exam was unremarkable. Laboratory results included a leukocytosis with left shift, a normal
metabolic panel, and an elevated creatinine kinase. Other investigations included a normal
lumber puncture, chest radiograph, head and face computerized tomography without contrast,
and brain magnetic resonance imaging. A dentist consultant examined him and noted an erupting
molar but no decay or abscesses. A psychiatric evaluation was requested as there was no clear
medical source for the patient’s distress.

Tuesday, March 8, 2016

Sarah is a 13-year-old eighth grader who was recently diagnosed for the first time with ADHD - Inattentive Type.  She had struggled with distractibility and disorganization since the fourth grade.  At home, Sarah’s mother described her as “spacey” and unable to complete the morning routine without constant supervision.  Over time, her mother observed that it seemed as if Sarah had given up on school. 

As Sarah became an adolescent, her self-esteem suffered due to her academic struggles and she placed increasing emphasis on her appearance, including focus on remaining thin and refusing to leave the house without makeup on.  It was in this context that Sarah recently posted photos of herself in various states of undress and/or drinking alcohol on Snapchat, a photo-sharing application in which users can send “snaps”- photos that disappear soon after opening.  However, “snap” recipients can take a screenshot or photo of the “snap,” thereby saving the image.  For unknown reasons, Sarah’s close female friend took screenshots of these provocative photos and sent them to their classmates and Sarah’s older brother.  

Sarah’s family contacted the police and has been working with her school to address this incident.  This experience resulted in significant family stress and distrust of Sarah.  For example, her mother took away her cell phone and laptop and has “grounded her” for a month from all out of school activities. 

Sarah’s family seeks guidance regarding teaching Sarah about responsible social media use and preventing this from happening again.  Mom comes to your urgent care session asking for help because she doesn’t feel that Sarah has “learned her lesson.” What would you do next?

Monday, February 29, 2016

Isela is an 11 year-old Mexican-American girl with mild intellectual disability. During a vacation with her family, she went swimming with dolphins. A few days later, Isela awoke at night with laughing spells; during the day, she was pacing, aggressive, and had a decline in self-care and communication skills.  Her parents attributed the symptoms to the dolphins.  She was evaluated by a pediatric neurologist.  A sleep-deprived electroencephalogram (EEG), brain magnetic resonance imaging (MRI), lumbar puncture, and thyroid function tests were normal.  A genomic microarray was sent.  The neurologist initiated empiric therapy for seizures with lamotrigine which caused a rash. It was discontinued.  She was then treated with oxcarbazepine followed by topiramate for several months without any change in symptoms. Comparative genomic hybridization revealed a small deletion at 14q13.1 which includes the NPAS3 gene.   


Psychiatry was consulted after several months of persistent symptoms.  Isela seemed to be laughing in response to internal stimuli.  Due to the decline in communication and her apparent preoccupation with visual and auditory internal stimuli, Isela could not be interviewed adequately to confirm that she was experiencing hallucinations, but her laughter seemed to be in response to hallucinations.  Isela was diagnosed with disorganized schizophrenia with psychosis.  Risperidone was prescribed.
A psychology evaluation was completed a few months later.  Parents noted significant improvement after starting risperidone with reduced inappropriate laughing spells, reduced pacing, improved eating, sleeping, communication and self-care. Cognitive assessment with the Wechsler Abbreviated Scale of Intelligence-II: Verbal estimated IQ=70, Perceptual estimated IQ=71, Full Scale estimated IQ=68. There was no cognitive decline compared to testing at school 4 years previously. Though psychotic symptoms were significantly improved on anti-psychotic medication and function appeared to have been restored to her previous level, her parents continued to perceive a significant decline of functioning, and they continued to attribute the psychosis to swimming with the dolphins.