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Biomedical subjects

K K Kidd

Publications and source records attributed to K K Kidd.

At least 253 records · Page 14Linked to original sources

Amish study, IV: Genetic linkage study of pedigrees of bipolar probands.

Genetic linkage studies were conducted on five Old Order Amish bipolar pedigrees in 1979 and 1982, with 94 members tested for color blindness and typed for 42 red blood cell and related markers in 17 antigen systems. Also, 59 individuals in two pedigrees were typed for HLA, Bf, and GLO. Linkage analyses assuming X-linkage and autosomal inheritance of bipolar illness were done with diagnostic schemes ranging from strict bipolar to milder forms of affective disorder. Linkage to affective disorders was not strongly supported for any marker locus. Close linkage to HLA was excluded, with weaker evidence against linkage to GLO.

Adolescent↗

Amish study, V: Lithium-sodium countertransport and catechol O-methyltransferase in pedigrees of bipolar probands.

The authors studied 87 individuals from four large Amish pedigrees to determine the relationship between susceptibility to affective disorders and variation in the measures of two biochemical variables, catechol O-methyltransferase (COMT) and lithium countertransport. Assays were done in duplicate and blind to diagnostic or pedigree status. Data were analyzed separately within families as well as by pooling ill and well subjects across pedigrees. Various statistical analyses yielded no significant differences in lithium measures or COMT activity levels between members diagnosed as having a form of affective disorder and the normal members.

Bipolar Disorder↗

Recovery and persistence of stuttering among relatives of stutterers.

Recovery and persistence of stuttering were examined in the first-degree relatives of a large group of adult persistent stutters. The percentage of recovered individuals reported in these families supports the hypothesis that recovered and persistent stuttering are not independent disorders. Sex and type of relative were significant variables in the distributions of recovery and persistence of stuttering. Handedness in male subjects and birth order did not distinguish between recovered and persistent stutterers. Female recovered stutterers had significantly earlier ages of stuttering onset than the other groups (male recovered stutterers and male and female persistent stutterers). Female recovered stutterers also tended to recover earlier than male recovered stutterers, and the durations of stuttering symptoms were similar in both sexes.

Adolescent↗

An evaluation of the family history method for ascertaining psychiatric disorders.

This methodologic study assessed the accuracy of family history data in ascertaining psychiatric disorders in relatives. Comparison of diagnoses based on family history with diagnoses based on direct interview indicated that the specificity for the family history method is high, but that the sensitivity is generally low. Accuracy was better for affective disorders and alcoholism than for less severe disorders; spouses and offspring provided more accurate information than parents and siblings. The use of multiple information increased sensitivity somewhat, with little adverse effect on specificity. However, because errors were often correlated when more than one person provided information about a particular relative, the use of multiple informants generally did not improve accuracy substantially. Analysis of family-genetic studies should take account of the differential quality of data obtained by the family history method vs direct interview.

Adolescent↗

Variability in rates of affective disorders in relatives of depressed and normal probands.

Familial studies of depressed probands vary in the absolute rates of affective disorders in relatives. In a study of 215 mild and severely depressed nonbipolar major depressives and normal probands and 1,331 adult first-degree relatives, attempts were made to account for the sources of variance. The results demonstrated familial aggregation, although degree of aggregation of absolute rates of affective disorders varied among relatives according to the definition of depression used for the relatives, the source of data, and the composition of the relative sample. Despite this variability, the magnitude of the difference in rates between relatives of the normal persons and of the depressed probands remained constant. The rates of affective disorders were always higher in the relatives of the depressed than in the relatives of the normal probands. The magnitude of the difference in rates of depression between the relatives of the depressed subjects and the relatives of the normal probands ranged approximately between twofold and fivefold.

Adolescent↗

Comparison of the family history method to direct interview. Factors affecting the diagnosis of depression.

This study compares information on the diagnosis of depression obtained by family history reports with the formation obtained by direct interview. Reports were obtained from family members on the psychiatric status of 696 individuals for whom direct SADS-L interviews were also available. The effects on family history reports of subjects characteristics, treatment status, age of onset of depression, and endogenous symptoms were examined. Sensitivity and specificity for family history reports on the specific symptoms of depression are also reported. The specificity of family history reports for the diagnosis of depression was consistently high but sensitivity varied as a function of subject and illness characteristics. Sensitivity was somewhat higher for females than males and appreciably higher for probands than for their first-degree relatives and spouses. Sensitivity was increased whenever treatment, hospitalization or endogenous symptoms were present in the subject, indicating that family history reports are most accurate for detecting the severest cases of depression. Finally, the symptoms of depression that are least accurately reported by relatives are identified and suggestions for modifying the family history criteria for depression are proposed.

Adult↗

Language onset and concomitant speech and language problems in subgroups of stutterers and their siblings.

Time of language onset and frequencies of speech and language problems were examined in stutterers and their nonstuttering siblings. These families were grouped according to six characteristics of the index stutterer: sex, recovery or persistence of stuttering, and positive or negative family history of stuttering. Stutterers and their nonstuttering same-sex siblings were found to be distributed identically in early, average, and late categories of language onset. Comparisons of six subgroups of stutterers and their respective nonstuttering siblings showed no significant differences in the number of their reported articulation problems. Stutterers who were reported to be late talkers did not differ from their nonstuttering siblings in the frequency of their articulation problems, but these two groups had significantly higher frequencies of articulation problems than did stutterers who were early or average talkers and their siblings.

Articulation Disorders↗

Genetic strategies for the analysis of childhood behavioral traits.

Genetic strategies appropriate for the analysis of childhood behavioral traits are reviewed. The problem of etiologic heterogeneity is discussed, and suggestions for minimizing its effect are offered. Two traits, stuttering and Tourette syndrome, are given as examples to illustrate methodologies useful for the genetic analysis of childhood disorders. In both examples, it is shown that the disorder clusters in families, that it is vertically transmitted, and that the transmission is sex-modified. Several genetic models can explain the pattern of transmission, although cultural hypotheses also should be considered. Hence, additional analyses need to be attempted to help clarify the modes of transmission and the factors involved.

Adoption↗

The epidemiology of Tourette's syndrome: a pilot study.

A new, precoded, self-report questionnaire was used to collect information on 75 patient members of the Tourette Syndrome Association. This diverse group of Tourette's syndrome (TS) patients supplied by mail detailed medical, symptom, developmental, family, and personal history information. Analysis of these data supported the usefulness and validity of the questionnaire, and also indicated that the diagnosis of TS is being made earlier; attentional difficulties may be basic to the disorder; haloperidol is an effective treatment for many patients, but alternative treatments are needed because unpleasant side effects of haloperidol often lead to discontinued use, and TS is disabling for many with most patients reporting serious problems in one or more areas of functioning.

Adolescent↗

The effects of requisite assumptions on linkage analyses of manic-depressive illness with HLA.

Two large pedigrees with a bipolar proband were selected on the basis of compatibility with the hypothesis of autosomal dominant inheritance of a depressive taxon. We compared the results of linkage analyses of the depressive taxon with HLA and GLO in these pedigrees when penetrance function, diagnostic classification, and HLA haplotype frequencies were varied. The analyses show that all three types of assumptions affect the lod scores and likelihoods obtained. Using the most favorable assumptions, we obtain a lod score of 3.901 at theta = 0.10 for HLA with the depressive taxon. This lod score would conventionally be considered strong evidence of linkage of a subtype of manic-depressive illness with HLA but the dependence of these results on several untested assumptions suggests more cautious interpretation. Nonetheless, we feel it does represent evidence in favor of linkage because this high a lod score cannot readily be dismissed as statistical artifact. The results point out the importance of careful delineation of the assumptions made in linkage analyses of complex disorders, including the diagnostic criteria, marker allele frequencies, and age-of-onset function used.

Adolescent↗

Familial pattern and transmission of Gilles de la Tourette syndrome and multiple tics.

Fifty-two patients with Gilles de la Tourette syndrome (TS) diagnosed according to DSM-lll criteria and/or their parents were interviewed regarding symptoms among family members. Occurrences of TS and multiple tics (MT) among first-degree relatives were distinguished to determine the familial patterns of the two diagnoses. comparing these data with family data collected on a random national sample of patients with TS, we found no differences between the two samples. Each separately and both combined showed that (1) MT seems to be a mild form of TS; (2) both MT and TS are transmitted in the same families; (3) the sex difference is real and not an artifact of ascertainment; and (4) the sex difference is related the the transmitted susceptibility as a threshold effect. A specific genetic mechanism has not been identified.

Family↗

Dermo-distortive urticaria: an autosomal dominant dermatologic disorder.

A new hereditary physical urticaria, dermo-distortive urticaria (DDU), is described in a Christian Lebanese family. DDU is characterized by the appearance of pruritic, erythematosus, edematous, cutaneous swelling confined to the stimulated area in response to stimuli that vibrate or stretch the skin in a repetitive manner. The lesions appear within several minutes after stimulation and disappear within an hour. Extensive stimulation causes not only local urticaria but also a systemic response of faintness, headache, and facial erythema. Other than these annoying reactions, no other morbidity is associated with this disorder. While this disorder is certainly uncommon and its manifestations are more annoying than life threatening, it may be an important example of a heritable defect of inflammation control mechanisms. Although the mediator for the urticaria and systemic response was not isolated, a likely candidate is histamine. Computer analysis of the phenotype of 219 relatives in 6 generations shows that DDU is transmitted as an autosomal dominant trait with high penetrance. DDU is clinically distinct from hereditary angioneurotic edema, pressure urticaria, and dermographia. It is similar to vibratory angioedema (VA), but sufficient evidence to prove that DDU and VA are identical is not available.

Chromosome Aberrations↗

Genetic linkage analysis of dermo-distortive urticaria.

We have described a new hereditary physical urticaria, dermo-distortive urticaria (DDU) [1]. In an attempt to man the locus of this autosomal-dominant disorder and to further characterize it, a linkage analysis with 18 genetic markers was done. Close linkage of DDU with TCII, GALT, Gc, Fy, Kell, and Se was excluded. The most significant positive lod score was for the MNSs blood antigen system, which has a maximum lod score of 1.09 at theta = 0.24 for all 28 family members who were typed. Although close linkage with DDU is not demonstrated at any marker, this study illustrates how linkage analysis may prove to be of value in the characterization of newly discovered heritable disorders.

Chromosome Aberrations↗

Hand usage in a colony of bonnet monkeys, Macaca radiata.

Handedness and its possible inheritance have been studied in a colony of 69 Macaca radiata by observation of hand usage during daily feeding and foraging activities. Each animal was observed for the number of right- and left-handed actions made during two tasks:feeding and searching. Individual animals fell into one of three classes: significantly right-handed, significantly left-handed, and no significant preference. For analysis, handedness was considered as both a directional phenomenon (percentage right-handed usage) and a degree phenomenon (absolute deviation from 50:50 hand usage). Feeding and searching were significantly correlated for both direction and degree. Therefore, laterality for handedness does exist in this primate species. A developmental aspect to laterality was suggested by the positive correlation of degree with age. No mother-offspring correlations were found for either direction or degree and half-sibships were not more similar for either. Thus, there is no evidence for a genetic component to either direction or degree of handedness.

Age Factors↗