Early development and adaptive functioning in children with Bardet-Biedl syndrome.

This study had two aims. Aim one investigated achievement of 10 developmental milestones in children with Bardet-Biedl syndrome (BBS). Aim one data were derived from retrospective responses by caregivers of individuals with BBS who are enrolled in the Clinical Registry Investigating Bardet-Biedl syndrome (CRIBBS). CRIBBS is a natural history registry acquiring serial observations. Aim two investigated early adaptive skills using the Adaptive Behavior Assessment System (ABAS-II 0-5) completed by caregivers of children with BBS aged from 0 to 5. There were 652 individuals with milestone information (with some variability based on availability of information for specific milestones), and 101 individuals (including 95 among the 652) with ABAS-II information. Results revealed wide-ranging delays in adaptive skills, particularly in the domain of Self-Care. Expressive language appears to be the most frequently delayed developmental milestone. We found a difference by BBS genotype wherein individuals with BBS1 had higher adaptive/developmental scores than individuals with BBS10. Age also carried a significant association with adaptive skills diverging farther from a normative trajectory as children with BBS progress through early childhood.

A neuropsychological investigation of the Delis-Kaplan Executive Function System.

Despite a strong historical association between frontal lobe lesions and executive dysfunction, questions remain regarding the neuropsychological characterization of specific regions within the prefrontal cortex, as well as the utility of some executive function measures. The Delis-Kaplan Executive Function System (D-KEFS; Delis, Kaplan, & Kramer, 2001) has gained popularity as a collection of executive function tests, but its sensitivity and specificity for detecting focal frontal lobe dysfunction remain uncertain. The current study investigated performances of patients with focal ventromedial prefrontal cortex (vmPFC, n = 13), dorsolateral prefrontal cortex (dlPFC, n = 14), and nonfrontal (NF, n = 18) lesions on the entire D-KEFS battery. We also obtained IQ data from conventional measures (the Wechsler Adult Intelligence Scale-Third Edition and Fourth Edition, WAIS-III/IV). On six D-KEFS indices, patients with dlPFC lesions performed lower than patients with vmPFC and NF lesions. On three other indices, the performances of the dlPFC group were lower than those of the NF group, but did not differ from those of the vmPFC group. However, none of these between-group differences were statistically significant after full-scale IQ and processing speed were controlled for, suggesting that the observed weaknesses in patients with dlPFC lesions were not specific to executive functions. Patients with vmPFC and NF lesions could not be differentiated based on their performances on any D-KEFS measures. While some D-KEFS measures show promise in differentiating patients with dlPFC lesions, the clinical advantage of using the D-KEFS over more traditional measures is not empirically compelling.

Predictors of neuropsychological recovery in treatment for anorexia nervosa.

Previous research indicates that individuals with Anorexia Nervosa (AN) often experience some degree of neuropsychological dysfunction. Although most aspects of cognition improve with treatment, factors that predict neuropsychological improvement remain elusive. The present study investigated whether cognitive reserve, the estimated level of premorbid cognitive functioning, and AN subtype predicted neuropsychological improvement during inpatient treatment for AN. Neuropsychological functioning was assessed pre- and post-hospitalization in 28 women with AN (18 with restricting type and 10 with binge-eating/purging type), and cognitive reserve was estimated at admission using a word reading test. Level of cognitive reserve and AN subtype were both significant predictors of neuropsychological improvement in this sample. Cognitive reserve was significantly associated with improvements in verbal memory, semantic fluency, basic auditory attention and visuospatial construction. Participants with AN binge-eating/purging type demonstrated significantly greater neuropsychological improvement during treatment than did participants with AN restricting type. Information about cognitive reserve and AN subtype may provide clinicians with valuable prognostic information and help guide treatment.