The developing brain has the capacity for a great deal of plasticity. A number of investigators have demonstrated that intellectual and language skills may be in the normal range in children following unilateral perinatal stroke. Questions have been raised, however, about whether these skills can be maintained at the same level as the brain matures. This study aimed to examine the stability of intellectual, academic and language functioning during development in children with perinatal stroke, and to resolve the inconsistencies raised in previous studies. Participants were 29 pre-school to school-age children with documented unilateral ischaemic perinatal stroke and 24 controls. Longitudinal testing of intellectual and cognitive abilities was conducted at two time points. Study 1 examined IQ, academic skills and language functions using the same test version over the test-retest interval. Study 2 examined IQ over a longer test-retest interval (pre-school to school-age), and utilized different test versions. This study has resulted in important new findings. There is no evidence of decline in cognitive function over time in children with perinatal unilateral brain damage. These results indicate that there is sufficient ongoing plasticity in the developing brain following early focal damage to result in the stability of cognitive functions over time. Also, the presence of seizures limits plasticity such that there is not only significantly lower performance on intellectual and language measures in the seizure group (Study 1), but the course of cognitive development is significantly altered (as shown in Study 2). This study provides information to support the notion of functional plasticity in the developing brain; yields much-needed clarification in the literature of prognosis in children with early ischaemic perinatal stroke; provides evidence that seizures limit plasticity during development; and avoids many of the confounds in prior studies. A greater understanding of how children with ischaemic perinatal stroke fare over time is particularly important, as there has been conflicting information regarding prognosis for this population. It appears that when damage is sustained very early in brain development, cerebral functional reorganization acts to sustain a stable rate of development over time.

The goal of this study was to examine structured language skills in children with perinatal strokes. Participants were 28 school-age children with early focal brain lesions (17 with left hemisphere [LH] damage, 11 with right hemisphere [RH] damage), and 57 controls. A standardized test of language (Clinical Evaluation of Language Fundamentals-Revised) was administered. Receptive, Expressive, and Total Language scores, as well as subtest scores, were analyzed. Control participants scored within the normal range, whereas the LH and RH groups scored significantly more poorly than did controls. There were no differences between the LH and RH groups on any of the language scores, and all scores were below the 14th percentile. Within the lesion group as a whole, scores were not related to lesion laterality, site, or severity. Results also were not accounted for by socioeconomic status or IQ. However, children who experienced seizures demonstrated significantly poorer performance than did children who did not experience seizures. Damage to either the LH or RH early in development adversely affects later language abilities, particularly on tasks with structured and complex linguistic demands. Although lesion side has little effect, the presence or absence of seizures is a major contributor to language outcome.

When caring for a child with a chronic illness, parents, physicians, and other medical personnel often focus their attention on treatment of the medical illness. The child's and family's coping and mental health are often secondary to medical management of the disorder. Cystinosis is a genetic metabolic disease that affects multiple organs, and specific aspects of cognition and behavior. The present study examined behavior and adjustment in a sample of families and children with a chronic illness, cystinosis. The Cystinosis Behavior Questionnaire was administered to 63 parents of children and adolescents with cystinosis (ages 2-17 years). The questionnaire was comprised of both open-and closed-ended questions that probed areas of child characteristics, family adjustment, school performance, and intervention for mental health issues. Parents reported many areas of strength and difficulty within their child and family. Interestingly, however, very few of the families had sought out intervention for behavioral and/or adjustment issues. In better defining behavioral and adjustment issues in cystinosis families, the current findings may prompt greater awareness in individuals caring for and/or working with a child with cystinosis.

Cystinosis is a recessive genetic metabolic disorder in which the amino acid cystine accumulates in various organs of the body. Previous studies have demonstrated visuospatial dysfunction in children and adults with this disorder. It is not known whether this is a result of the genetic alteration or an accumulation of cystine in the brain over time. This study investigated patterns of performance in 20 young children with cystinosis (4-7 years) and 20 matched controls on the Wechsler Preschool and Primary Scale of Intelligence-Third Edition (WPPSI-III). The children with cystinosis had a mean Full Scale IQ at the low end of the average range. Their overall cognitive functioning was comprised of average verbal abilities, low average non-verbal abilities, and low average processing speed. Multivariate analyses indicated that the cystinosis and control groups were not significantly different on the verbal subtests. In contrast, the cystinosis group performed significantly more poorly than controls on the performance and processing speed subtests. Although overall intellectual function was in the normal range, young children with cystinosis demonstrated a discrepancy such that non-verbal abilities were poorer relative to verbal abilities. This pattern resembles the cognitive profile found previously in older individuals with cystinosis and indicates that the specific cognitive profile emerges early in development. These findings suggest that the cognitive dysfunction in cystinosis is not merely the result of cystine accumulation over time but may be related to differences in brain development as a consequence of alterations or deletions of the cystinosin gene.

The same pattern of visual spatial deficit is present in young children with cystinosis as has previously been demonstrated in older children and adults, which suggests that there may be an influence of the cystinosis gene on brain development, rather than an adverse effect of prolonged cystine accumulation in the brain during childhood.