Update and Review: Cystic Fibrosis

Cystic fibrosis (CF) is one of the most commonly inherited recessive disorders in U.S. Caucasians, with a carrier frequency of approximately 1 in 29. Genetic counseling and CF mutation analysis has traditionally been offered to the affected patient and his/her extended family, in keeping with policy statements from professional organizations (ASHG, NSGC, ACOG). The target population for CF testing and counseling may be evolving after the release of the 1997 National Institutes of Health Consensus Statement, Genetic Testing for Cystic Fibrosis, which recommends that CF screening be offered to all preconceptional and pregnant couples. Genetic counseling for CF is complicated by reports of polymorphisms in the CF gene that are associated with symptoms that do not meet the diagnostic criteria for CF, such as bilateral congenital absence of the vas deferens, bronchiectasis, and idiopathic pancreatitis. To aid genetic counselors with these issues, this review explores the symptoms of CF, patient management, gene function, genetics, genotype/phenotype correlation, and genetic counseling issues.     

"Whose perfection is it anyway?": a virtuous consideration of enhancement.

Discussions of genetic enhancements often imply deep suspicions about human desires to manipulate or enhance the course of our future. These unspoken assumptions about the arrogance of the quest for perfection are at odds with the normally hopeful resonancy we find in contemporary theology. The author argues that these fears, suspicions and accusations are misplaced. The problem lies not with the question of whether we should pursue perfection, but rather what perfection we are pursuing. The author argues that perfection, properly understood, has an enormously positive function in the Roman Catholic tradition. The author examines three sources: the Scriptures, the scholastic tradition, and ascetical theology. He examines contemporary criticisms of perfectionism and suggests that an adequate virtue theory keeps us from engaging perfectionism as such. The author then shows how a positive, responsible view of perfection is an asset to our discussion on enhancement technology.     

Evidence for the Continuity of Early Problem Behaviors: Application of a Developmental Model

Evidence of the continuity of early problem behaviors in young girls and boys was examined developmentally. Data were gathered on 104 mother-child dyads from low-income families when children were between 1 and 5 years of age. Difficult temperament, aggression, and noncompliance from 12 to 24 months, and externalizing and internalizing problems at 36 and 60 months, were assessed. The results provide evidence for the continuity of early behavioral and emotional problems and support for the early differentiation between internalizing and externalizing problems. Implications of the current findings for prevention efforts are presented.     

Interpreter and Spanish administration effects on the WISC performance of Mexican-American children

A study was conducted to ascertain whether the use of an interpreter and/or a regular examiner in administering the WISC would affect the test results of a group of Mexican-American children. A covariance analysis of the results indicated that the use of English in the administration of some subtests of the Verbal Scale and a Spanish administration of some scales of the performance test are likely to elicit optimum performance of Mexican-American children.     

Sensitivity of 4-year-olds to featural and second-order relational changes in face distinctiveness

Sensitivity to adult ratings of facial distinctiveness (how much an individual stands out in a crowd) has been demonstrated previously in children age 5 years or older. Experiment 1 extended this result to 4-year-olds using a "choose the more distinctive face" task. Children's patterns of choice across item pairs also correlated well with those of adults. In Experiment 2, original faces were made more distinctive via local feature changes (e.g., bushier eyebrows) or via relational changes (spacing changes, e.g., eyes closer together). Some previous findings suggest that children's sensitivity develops more slowly to relational changes than to featural changes. However, when we matched featural and relational changes for effects on distinctiveness in adult participants, 4-year-olds were equally sensitive to both. Our results suggest that (a) 4-year-olds' face space has important aspects of structure in common with that of adults and that (b) there is no specific developmental delay for a second-order relational component of configural/holistic processing.     

DEVELOPING FLUENCY AND ENDURANCE IN A CHILD DIAGNOSED WITH ATTENTION DEFICIT HYPERACTIVITY DISORDER

We examined the effect of a teaching method on skill fluency and on‐task endurance of a 9‐year‐old boy who had been diagnosed with attention deficit hyperactivity disorder. An academic task that occurred at low fluency during 10‐min baseline sessions was taught to fluency. When responding was not yet fluent, brief reversals to baseline showed that the learner's rate of responding decreased and that he did not spend entire sessions on task. However, once a fluency goal had been reached, responding remained fluent and he remained on task in the third reversal condition.     

Aftereffects for face attributes with different natural variability: adapter position effects and neural models

Adaptation to distorted faces is commonly interpreted as a shift in the face-space norm for the adapted attribute. This article shows that the size of the aftereffect varies as a function of the distortion level of the adapter. The pattern differed for different facial attributes, increasing with distortion level for symmetric deviations of eye height and decreasing for asymmetric deviations. These results are interpreted in terms of different coding ranges for the 2 facial attributes, arising from differences in eye-height variability in natural face images (large for symmetric, small for asymmetric). Neural models developed in low-level vision also are applied to facial attributes, contrasting a 2-pool (norm-based) and a multichannel (exemplar-based) model. The adapter position effects generally support a norm-based model, as did a finding that perception of stimuli further from the norm than the adapter was shifted in the direction of the norm, rather than repulsed away from the adapter.     

No face-like processing for objects-of-expertise in three behavioural tasks

In the debate between expertise and domain-specific explanations of "special" processing for faces, a common belief is that behavioural studies support the expertise hypothesis. The present article refutes this view, via a combination of new data and review. We tested dog experts with confirmed good individuation of exemplars of their breed-of-expertise. In all experiments, standard results were confirmed for faces. However, dog experts showed no face-like processing for dogs on three behavioural tasks (inversion; the composite paradigm; and sensitivity to contrast reversal). The lack of holistic/configural processing, indicated in the first two of these tests, is shown by review to be consistent rather than inconsistent with previous studies of objects-of-expertise.