Rapid Onset Obesity with Hypoventilation, Hypothalamic Dysfunction, Autonomic Dysregulation (ROHHAD) is a rare and often progressive syndrome with unknown etiology and only 100 cases reported to date. The syndrome is characterized by generally normal development followed by rapid onset of pain, muscle weakness, personality changes, and developmental regression. Associated chronic pain and fatigue result in difficulty concentrating, slow information processing, and executive function challenges. Only one study has examined the neuropsychological profile of pediatric patients with this syndrome.

Our patient was a 10-year-old, right-handed male with a history of ROHHAD syndrome, focal epilepsy, mild neurocognitive disorder, autism spectrum disorder (ASD), and attention-deficit/hyperactivity disorder (ADHD) who underwent two comprehensive neuropsychological evaluations at our medical center.

Findings across multiple evaluations showed solid verbal skills and difficulty processing visual-spatial and nonverbal information, as well as problems with attention, executive functioning, and adaptive skills, and psychosocial functioning consistent with his diagnoses of ADHD and ASD. He exhibited fine-and gross-motor challenges associated with hypotonia. Chronic fatigue contributed to his challenges with attention and information processing. These findings are generally consistent with previous research examining the neuropsychological profile associated with ROHHAD syndrome.

Results from our case study highlight the complexity and challenges associated with ROHHAD syndrome. Consistent with available information, etiology of our patients’ neuropsychological weakness and functional decline is unclear. Yearly neuropsychological evaluations are recommended for these patients to update interventions based on their variable abilities. More research is needed to firmly establish the neuropsychological profile in youth of varying ages afflicted with this syndrome.

A rich literature exists on cognitive changes related to focal injury in the adult brain. In contrast, the developing brains of children are less understood. In contrast to adult cases, 20% to 25% of perinatal strokes result in language disorder regardless of lesion lateralization. Existing literature suggests children with perinatal stroke may present with a range of executive functioning and visuospatial processing difficulties. Gross and fine motor challenges are also likely to occur. Furthermore, these children have an increased prevalence of autism spectrum disorder (ASD) and carry the highest risk for epilepsy. Despite growing research on neurodevelopmental profiles in patients with perinatal stroke, published literature is limited.

Our study examines neurodevelopment of a 2-year-old, right-handed male with a history of perinatal ischemic right middle cerebral artery (MCA) stroke, infantile spasms, and left hemiparesis following right hemispherectomy for seizure management who underwent two neurodevelopmental evaluations at our medical center over approximately 3 years.

Findings from the patient’s evaluation with the Mullen Scales of Early Learning revealed overall cognitive ability in the low average range (SS = 89, 23rd percentile); however, notable variability was seen in his performance. His receptive language was average (SS = 98, 45th %tile) and consistent with previous evaluation results, and he has made gains in visual reception (from SS = 75, 5th %tile to SS = 91, 27th %tile) and expressive language (from SS = 55, 0.1st %tile to SS = 70, 2nd %tile). In addition, his gross motor was exceptionally low (SS = 55, 0.1st %tile) and consistent with previous evaluation results. Fine motor was low average (SS = 84, 14th %tile).

Our patient showed cognitive gains in language and visual reception since his prior evaluation despite history of right MCA stroke and right hemispherectomy. Improvements are likely due to a combination of early brain plasticity and intensive therapies he has received. Consistent with published findings in this population, he experienced seizures associated with his stroke. Our results add to the limited literature on neurodevelopmental challenges associated with perinatal stroke and progress that can be made when appropriate supports are provided early and consistently.

Epilepsy includes recurrent, unprovoked seizures and affects 470,000 children in the US, of which 7% have drug-resistant epilepsy due to failing two or more antiseizure medication trials. For some patients with drug-resistant epilepsy, surgery has been successful in reducing seizure burden. Functional MRI (fMRI) and intracranial mapping of neurocognitive functions, especially language, are increasingly done to assess potential functional loss from epilepsy surgery. However, these procedures vary by medical institute. The purpose of this review was to examine published literature on fMRI and intracranial mapping procedures for pediatric epilepsy surgery workup toward development of a standardized protocol that can be used across institutes as a guide to standard-of-care best practices for predicting loss of function associated with epilepsy surgery.

Our literature review includes information from 8 electronic databases for peer-reviewed, English language studies of evaluation for pediatric epilepsy surgery candidacy. Thirty-one studies were selected based on inclusion criteria. Only studies including fMRI and intracranial mapping conducted with pediatric patients being worked up for epilepsy surgery were selected.

Our review revealed that the most common task used in fMRI and intracranial mapping procedures is visual-object naming, but type of naming tasks and the way they are administered varies widely across medical institutes and includes published measures and those created on site. Variability makes examining findings across studies and designing best practice for these procedures challenging.

Creating gold-standard procedures for fMRI and intracranial mapping administration for epilepsy surgery evaluations is critical in optimizing treatment and functional outcomes for our pediatric patients. Our review is an initial step in this process.