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.

Thursday, December 29, 2022

Challenging Case: Caregiver-Fabricated Illness Masquerading as Autism Spectrum Disorder

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.​