Further delineation of the C (trigonocephaly) syndrome.

This communication brings the number of recognized cases of the C (trigonocephaly) syndrome to 11. The pattern of findings includes an anomaly of the anterior cranium and frontal cortex (trigonocephaly), the root of the nose (broad nasal bridge, epicanthus, and short nose), and palate (thick anterior alveolar ridges); abnormalities of the limbs (polysyndactyly, bridged palmar creases, short limbs, and joint dislocations and/or contractures); visceral defects (congenital heart defects, cryptorchidism, and abnormal lobulations of the lungs and kidneys). Auricular, mandibular, skin, and genital abnormalities also occur. Consistent neurological findings are hypotonia, strabismus, and psychomotor retardation; seizures have been reported. Normal chromosomes, normal parents with multiple affected offspring, equal sex ratio of affected individuals, and consanguineous matings all support autosomal recessive inheritance of the C syndrome. In autopsied cases, there has been a suggestion of defective central nervous system myelination. About 1/2 of the case have died within the first year. All survivors have severe to profound mental retardation except for one child who has moderate retardation.

Genetic counseling: a comparison of counselee's genetic knowledge before and after (Part III).

Forty-seven mothers of children with Down syndrome were evaluated on their knowledge of genetic facts pertaining to Down syndrome. We found that more knowledge of this disorder was acquired by counselees before counseling than from counseling. The data show that counseling is most effective in enhancing counselees' knowledge of general genetics, ie, the origin of the extra chromosome in a child with Down syndrome. In contrast, counselees had the most difficulty in learning the recurrence risks for others, including the risks for relatives, siblings, and the population in general. A finding of practical importance is that formal education is inversely related to the amount of information counselees learned from counseling. Mothers with less than a high school education acquired most of their genetic knowledge from counseling, while those with more than a high school education acquired most of this information before counseling.

Elaboration of the definition of genetic counseling into a model for counselee decision-making.

PIP: Genetic counselors are generally trained in genetics only and often have no basis for determining when a counselee has made an informed decision and the counselor's function is complete. A theory of genetic counseling (GC) is offered which interrelates genetic information, psychological responses, learning theory, and decision making, reflecting a shift from a eugenic orientation to an orientation concerned with the physical and mental well-being of counselees. GC is 1st defined as enabling the counselee to comprehend the medical facts of genetic disorders, heredity, risks, and alternatives, as well as to make a healthy adjustment to a family member's disorder and risk of recurrence. The process of learning is broken down into a hierarchical relationship between acquisition, understanding, and personalization of facts, and applied to the GC situation; e.g. "the options are as follows;" "they can be exercised by couples in certain ways;" and "we have the following choices to make." Personalization of knowledge means integration into one's own value system where it will affect decisions made, a process affected by factors such as stress. Often, the information provided by GC is not the only information the counselee possesses, and it will be integrated with other conceptions. Normative social influences (e.g. a family's attitude towards abortion) affect the behavioral intention. And finally, the behavioral intention is not always equivalent to the actual behavior. These process are all related to the way in which a family deals with the stress caused by a genetic disorder. GC outcomes are easier to measure than those of psychological counseling. Extending the model to clinical application implies 1) assessment; 2) setting objectives; 3) counseling; and 4) evaluation.^ieng

The determinants of mothers' knowledge of the Down syndrome before genetic counseling: part II.

Mothers coming for genetic counseling because they have an infant with the Down syndrome (DS) vary in their amount of knowledge about the cause, recurrence risk, and options for dealing with the recurrence risk. The purpose of this work has been to determine some predictors of the variability in mothers' knowledge of the DS before coming to genetic counseling. Data were collected before counseling through a detailed interview concerning mothers' knowledge of the DS, their demographic background, fertility plan, and attitude toward family planing. These data were "reduced" by multiple-regression analysis, to 7 variables used in a prediction equation for mothers' level of pre-knowledge attainment. These variables were then used to construct a model which was tested by path analysis. Results of analyses showed that about 2/3 of the variance in mothers' pre-knowledge of the DS could be accounted for by 5 independent variables: 1) time from diagnosis to counseling session, 2) date of counseling session, 3) nonreporting of emotional upset, 4) education-occupational status (EOS), and 5) utilization of birth control methods. These findings led to the conclusion that what occurs before counseling is of importance for the outcome of genetic counseling, as measured by the genetic information acquired by the counselees. Some precounseling precedures are suggested on how genetic counselors might be able to gain more control over the important factors that occur before actual counseling.

PIP: There is great variability among mothers coming for genetic counseling because they have an infant with Down syndrome. Data were collected from 47 mothers of children with this disease who had reported to Indiana University Medical Center or Methodist Hospital of Indiana for genetic counseling. It was found that the mothers varied in their knowledge of the disease, the cause, recurrence risk, and options for dealing with a recurrence. Precounseling information was collected on the mothers' knowledge, their demographic backgrounds, fertility plans, and attitude toward family planning. 2/3 of the variance in the mothers' preknowledge could be accounted for by 5 independent variables: 1) the elapsed time between diagnosis and counseling; 2) the data of the counseling session; 3) nonreporting of emotional upset; 4) educational/occupational status; and 5) use of birth control methods. The relationships among these variables is diagrammed. As a result of this study, it was recommended that more precounseling education regarding the disease be provided and that more time elapse between the diagnosis and the counseling session to allow the parents time to educate themselves. These 2 improvements in the counseling process might improve the levels of information and the attitudes gained from the session.

The syndrome of multisynostotic osteodysgenesis with long-bone fractures.

Described here are two patients with a newly recognized syndrome of bone and cartilage maldevelopment which, we believe, results from a single embryonic defect, probably of genetic origin. The cardinal manifestations of this association are craniosynostosis, radiohumeral synostosis (RHS), and femoral bowing. Specific secondary defects include midface hypoplasia with characteristic facial appearance and ears, neonatal femoral fractures, and multiple minor anomalies of the limbs. Though the differential diagnosis includes such disorders as the campomelic syndrome, osteogenesis imperfecta (OI) and certain of acrocephalosyndactyly syndromes, the unique combination of clinical and radiographic abnormalities allows ready differentiation. The cause cannot be determined from these two cases.

Development of instruments to measure counselees' knowledge of Down syndrome.

Since approximately 10% of counselees coming to genetics clinics are concerned with Down syndrome, the development of short measures of knowledge of Down syndrome for evaluation could have widespread application. The purpose of this study was to design efficient, self-administered questionnaires of simple vocabulary to measure knowledge and understanding of Down syndrome before and after genetic counseling. Twenty-six previously piloted questions were administered to nurses, graduate students in Medical Genetics, special education teachers, and parents of children with Down syndrome (n = 126). A coefficient alpha of 0.842 indicated strong reliability. The content of the questionnaire was distributed into three categories: genetic knowledge, recurrence risk, and prenatal diagnosis. From the items (1) which had less than 85% correct responses, and (2) which fell into just one of the three categories, 12 questions were selected as a post-test (coefficient alpha of 0.749). Eight additional questions were then extracted (coefficient alpha of 0.56) as a pretest. The pretest predicted 53.3% of the variance of the post-test. The use of these instruments before and after counseling can be an aid in evaluating counseling and in comparing various approaches for effectiveness.

A detailed description of mothers' knowledge before genetic counseling for Down syndrome: Part I.

This study focuses on counselees' knowledge of the Down syndrome before receiving genetic counseling. Data were collected from 47 mothers of children with the Down syndrome using a structured interview of 13 open-ended questions. This instrument was found to be both internally reliable and consistent. Results of this study document the enormous variation of counselees' knowledge of the Down syndrome before genetic counseling and show that this is positively associated with their educational background. Counselees with more than a high school education knew about 60% of the genetic information pertaining to the diagnosis before genetic counseling, while those with less than a high school education knew only 23% of this information before counseling. These results indicate that the better educated counselees are less apt to need to learn basic genetic information and may seek out genetic counseling services for other reasons. Possible motives are seeking knowledge confirmation, emotional support, and personalization of the information.

Psychological responses to genetic counseling for Down's syndrome.

To assess some of the emotional aspects of why parents seek genetic counseling and to measure the effect of genetic counseling in parents of children with Down's syndrome, pre- and post-counseling measures of anxiety, hostility, depression, and self-concept were obtained from 43 parents. Pre-counseling responses were compared with those of normative controls, and pre- and post-counseling scores were compared for areas of significant change. Anxiety, hostility and depression levels were significantly higher in parents seeking counseling than in normative controls (both P less than 0.002). Following genetic counseling, there was a significant lowering of anxiety (P less than 0.0005) and depression (P less than 0.05) along with a significant increase in overall self-concept (P less than 0.01). The study documents the importance of looking at factors related to emotional needs and self-image of parents in genetic counseling.