35-Year Follow-Up of a Case of Ring Chromosome 2: Array-CGH Analysis and Literature Review of the Ring Syndrome.

Côté et al. [1981] suggested that ring chromosomes with or without deletions share a common pattern of phenotypic anomalies, regardless of which chromosome is involved. The phenotype of this 'general ring syndrome' consists of growth failure without malformations, few or no minor anomalies, and mild to moderate mental retardation. We reconsidered the ring chromosome 2 case previously published by Côté et al. [1981], and we characterized it by array CGH, polymorphic markers as well as subtelomere MLPA and FISH analysis. A terminal deletion (q37.3qter) of maternal origin of the long arm of the ring chromosome 2 was detected and confirmed by all the above-mentioned methods. Ring chromosome 2 cases are exceedingly rare. Only 18 cases, including the present one, have been published so far, and our patient is the longest reported survivor, with a 35-year follow-up, and the third case characterized by array-CGH analysis.

Psychosocial and cognitive function in children with nephrotic syndrome: association with disease and treatment variables.

BACKGROUND: To investigate possible differences in emotional/behavioral problems and cognitive function in children with nephrotic syndrome compared to healthy controls and to examine the effect of disease-specific and steroid treatment-specific characteristics on the abovementioned variables. METHODS: Forty-one patients with nephrotic syndrome (23 boys, age range: 4.4-15.2 years) and 42 sex- and age-matched healthy control subjects (20 boys, age range: 4.1-13.4 years) were enrolled in the study. Disease (severity, age of diagnosis, duration) and steroid treatment (total duration, present methylprednisolone dose and duration of present dose) data were collected. In order to assess children's emotional/behavioral problems, the Child Behavior Checklist was administered. The Wechsler Intelligence Scale for Children - Third Edition was administered to assess Full-Scale, Verbal, and Performance intelligence quotient (IQ) scores. RESULTS: The patients presented with more internalizing problems (P = 0.015), including withdrawal (P = 0.012) and somatic complaints (P = 0 .011), but not more anxiety/depression or externalizing problems. A significant association was found between severity of disease and somatic complaints (P = 0.017) as well as externalizing problems (P = 0.030). Years of illness were significantly more in those presenting with abnormal anxiety/depression (P = 0.011). Duration of steroid medication was significantly higher among those presenting with abnormal anxiety/depression (P = 0.011) and externalizing problems (P = 0.039). IQ was not associated significantly with disease or steroid treatment variables. CONCLUSIONS: Psychosocial factors and outcomes may be important correlates of children's nephrotic syndrome and potential targets of thorough assessment and treatment.

Grey and white matter distribution in very preterm adolescents mediates neurodevelopmental outcome.

Very preterm (VPT) birth is associated with altered cortical development and long-term neurodevelopmental sequelae. We used voxel-based morphometry to investigate white (WM) and grey matter (GM) distribution in VPT adolescents and controls, and the association with gestational age and neonatal ultrasound findings in the VPT individuals. GM and WM volumes were additionally investigated in relation to adolescent neurodevelopmental outcome. Structural MRI data were acquired with a 1.5 Tesla machine in 218 VPT adolescents (<33 weeks, gestation) and 128 controls aged 14-15 years, and analysed using SPM2 software. VPT individuals compared to controls showed reduced GM in temporal, frontal, occipital cortices and cerebellum, including putamen, insula, cuneus, fusiform gyrus, thalamus and caudate nucleus, and increased GM predominantly in temporal and frontal lobes, including cingulate and fusiform gyri and cerebellum. WM loss was concentrated in the brainstem, internal capsule, temporal and frontal regions and the major fasciculi. WM excesses were observed in temporal, parietal and frontal regions. Investigation of the inter-relationships between brain regions and changes revealed that all selected areas where between-group increased and decreased WM and GM volumes differences were observed, were structurally associated, highlighting the influence that abnormalities in one brain area may exert over others. VPT individuals with evidence of periventricular haemorrhage and ventricular dilatation on neonatal ultrasound exhibited the greatest WM and GM alterations. VPT adolescents obtained lower scores than controls on measures of language and executive function and were more likely to show cognitive impairment compared to controls (27% versus 14%, respectively). Several areas where VPT individuals demonstrated decreased GM and WM volume were linearly associated with gestational age and mediated cognitive impairment. To summarize, our data demonstrates that VPT birth is associated with altered brain structure in adolescence. GM and WM alterations are associated with length of gestation and mediate adolescent neurodevelopmental impairment. Thus, anatomical brain changes may contribute to specific cognitive deficits associated with VPT birth and could be used in the identification of those individuals who may be at increased risk for cognitive impairment.

Impaired executive functioning in young adults born very preterm.

Individuals born very preterm (VPT) are at increased risk of perinatal brain injury and long-term cognitive and behavioral problems. Executive functioning, in particular, has been shown to be impaired in VPT children and adolescents. This study prospectively assessed executive function in young adults who were born VPT (<33 weeks of gestation) [n = 61; mean age, 22.25 (+/-1.07) years; range, 20.62-24.78 years] and controls [n = 64; mean age, 23.20 (+/-1.48) years; range, 19.97-25.46 years]. Tests used comprised the Wechsler Abbreviated Scale of Intelligence (WASI), the Hayling Sentence Completion Test (HSCT), the Controlled Oral Word Association Test (COWAT), the Animal and Object test, the Trail-Making Test (TMT), and the Test of Attentional Performance (TAP). VPT participants showed specific executive function impairments in tasks involving response inhibition and mental flexibility, even when adjusting for IQ, gender, and age. No significant associations were observed between executive function test scores and perinatal variables or neonatal ultrasound classification. The results suggest that, although free from major physical disability, VPT young adults perform worse than controls on tasks involving selective aspects of executive processing, such as mental flexibility and response inhibition.