No abstract

Neurocognitive impairments and neuroimaging abnormalities are frequently observed in adults with SLE. There is a paucity of similar data in childhood-onset disease. We hypothesized that neurocognitive and neuroimaging abnormalities would be prevalent in children undergoing neuropsychological evaluations. We reviewed patient neurocognitive evaluations performed at a large US pediatric institution during 2001-2008. Records were retrieved from 24 children referred to neuropsychology due to clinical indications. Data from 15 children enrolled in a prospective structure-function association study was also analyzed. Subjects were predominantly African-American and Hispanic adolescent girls of average intelligence. aPL positivity and aspirin use was prevalent. Neurocognitive impairment was designated in 70.8% of retrospective, and 46.7% of prospective cohort patients. Deficits were seen at times of wellness, without previous NPSLE, and early in disease courses. Scores > 1.5 SD below published age-matched norms were common in tests of executive functioning, visual memory and visual-spatial planning. Features of depression were seen in 33.3% of the children in the retrospective cohort (clinical referrals). Cerebral and cerebellar volume loss was observed in a majority of blinded prospective cohort research MRIs (73.3% and 67.7% respectively). White matter hyperintensities were observed in retrospective and prospective cohort MRIs (36.6% and 46.7% respectively). Larger prospective studies that elucidate structure-function associations in children with SLE are planned.

Potocki-Shaffer syndrome is a rare contiguous gene deletion syndrome due to haploinsufficiency of the 11p11.2p12 region and is characterized by craniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses, and biparietal foramina. In this study, six patients with the Potocki-Shaffer syndrome were identified and evaluated using a multidisciplinary protocol that included assessments by a geneticist, ophthalmologist, otolaryngologist, orthopedist, nephrologist, audiologist, and neuropsychologist. Diagnostic studies included skeletal survey, magnetic resonance imaging of the brain, renal ultrasound, complete blood count, comprehensive metabolic panel, thyroid studies, and urinalysis. Using array comparative genomic hybridization, we further characterized the deletion in five of these patients. The results of these evaluations were combined with a comprehensive review of reported cases. Our data highlight the characteristic facial features, biparietal foramina, moderate-to-severe developmental delay and intellectual disability, myopia and strabismus, and multiple exostoses seen with this disorder. We also identify for the first time an association of Potocki-Shaffer syndrome with sensorineural hearing loss and autistic behaviors. Finally, we provide recommendations for the health maintenance of patients with Potocki-Shaffer syndrome.

The PIFOS is useful in examining recovery in natural history and intervention studies.