Executive function in nephropathic cystinosis.

Objective: We studied executive function (EF) in children and adolescents with cystinosis.

Background: Cystinosis is a genetic metabolic disorder in which the amino acid cystine accumulates in all organs of the body, including the brain. Previous research has shown that individuals with cystinosis have visuospatial deficits, but normal intelligence and intact verbal abilities.

Neurological impairment in nephropathic cystinosis: motor coordination deficits.

Nephropathic cystinosis is a rare genetic metabolic disorder that results in accumulation of the amino acid cystine in lysosomes due to lack of a cystine-specific transporter protein. Cystine accumulates in cells throughout the body and causes progressive damage to multiple organs, including the brain. Neuromotor deficits have been qualitatively described in individuals with cystinosis.

Visual and verbal learning in a genetic metabolic disorder.

Visual and verbal learning in a genetic metabolic disorder (cystinosis) were examined in the following three studies. The goal of Study I was to provide a normative database and establish the reliability and validity of a new test of visual learning and memory (Visual Learning and Memory Test; VLMT) that was modeled after a widely used test of verbal learning and memory (California Verbal Learning Test; CVLT). One hundred seventy-two neurologically intact individuals ages 5 years through 50 years were administered the VLMT and the CVLT.

Plasticity in the developing brain: intellectual, language and academic functions in children with ischaemic perinatal stroke.

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.

Language outcome after perinatal stroke: does side matter?

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.

Specific cognitive deficits in young children with cystinosis: evidence for an early effect of the cystinosin gene on neural function.

Objectives: Infantile nephropathic cystinosis is associated with a specific cognitive deficit in visual spatial processing in older children and adults. The cause of this deficit is unknown. This study was designed to determine whether the cognitive deficit is present in young children with cystinosis, suggesting an early effect of the genetic disorder on brain development.

The revision decision: is change always good? A comparison of CELF-R and CELF-3 test scores in children with language impairment, focal brain damage, and typical development.

Purpose: The Clinical Evaluation of Language Fundamentals (CELF) is a widely used, comprehensive test battery that assesses language in school-age children and adolescents. The CELF-R (E. Semel, E.

Non-verbal deficits in young children with a genetic metabolic disorder: WPPSI-III performance in 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.