Chorioretinal dysplasia-microcephaly-mental retardation syndrome: report of an American family.

Recently we evaluated an American family with the chorioretinal dysplasia-microcephaly-mental retardation syndrome (CDMMS, McKusick #156590). The male-to-male transmission observed for the first time in the family of this report confirms autosomal dominant inheritance. Analysis of our cases and review of the literature illustrates the variable expressivity of this disorder and demonstrates the need for careful ophthalmologic evaluations of at-risk relatives in order to provide accurate recurrence risks.

The Williams syndrome: evidence for possible autosomal dominant inheritance.

We recently evaluated a mother and son with the Williams syndrome. Documentation of the clinical phenotype in two generations of this family suggests that some cases of the Williams syndrome are autosomal dominantly inherited. Recognition of the heritable nature of the Williams syndrome should prompt careful clinical evaluation of other at-risk relatives in order to provide accurate recurrence risk counseling.

Reduced stereoacuity in Williams syndrome.

Strabismus is a frequently recognized manifestation of Williams syndrome [Greenberg and Lewis, 1988: Ophthalmology 95:1608-1612; Kapp et al., 1995: Am J Ophthalmol 119:355-360]. We recently evaluated the ophthalmologic function of 12 patients with Williams syndrome (WS), with an emphasis on binocularity. Four of 12 patients (33%) had measurable strabismus. Of the 8 remaining patients, examination of binocular function was possible in 6, all of whom demonstrated reduced stereoacuity. We speculate that subnormal binocular vision and the poor visuospatial performance observed in patients with WS may be related to abnormal brain morphogenesis in the region of the occipitoparietal cortex.

Diabetic embryopathy: possible pathogenesis.

Despite recent emphasis upon improved metabolic control during early diabetic pregnancy, the offspring of insulin-dependent diabetic women continue to have a 2- to 4-fold increased risk of congenital malformations. We recently evaluated the affected offspring of 4 insulin-dependent diabetic women. All had abnormal ears in association with vertebral defects. Our analysis of the structural defects of these infants and a review of the literature suggest that the pathogenesis of some cases of the diabetic embryopathy may involve a primary insult to developing somite mesoderm and associated cephalic neural crest cells.

Early puberty in Williams syndrome.

Pubertal development was evaluated in nine males and 16 females with Williams syndrome (WS). Our results indicate that puberty in WS occurred earlier than in published population controls; specifically, 90% of menstruating females reached menarche and 83% of pubertal males showed Tanner III pubic hair development prior to the age of 12 years. The sequence of pubertal development was normal, bone age was always consistent with, or in excess of, chronological age, and there was evidence of central (hypothalamic-pituitary mediated) activation as the cause of early puberty in a subset of subjects.

Subnormal binocular vision in the Williams syndrome.

PURPOSE: Patients with Williams syndrome have been found to have a high prevalence of strabismus. This may be due to a primary sensory abnormality. The purpose of this study was to determine the prevalence of subnormal binocular vision in patients with Williams syndrome. METHODS: Patients being followed in an interdisciplinary Williams syndrome clinic were prospectively evaluated to determine their binocular status. RESULTS: Eleven patients with Williams syndrome underwent an ophthalmologic evaluation. Twenty-seven percent of patients had strabismus (3/11). Eight patients demonstrated no measurable strabismus. Six of these patients were found to have monofixation syndrome. CONCLUSIONS: There is a high prevalence of subnormal binocular vision in Williams syndrome. This subnormal binocular vision may explain the high prevalence of strabismus in this syndrome.

School-based support for urban adolescent mothers.

INTRODUCTION: The purpose of this research was to examine infant birth weights and high school completion rates for two cohorts of adolescent mothers attending an urban school-based program, the Polly T. McCabe Center. METHOD: A retrospective record review was conducted with two convenience samples of 47 adolescent mothers (study I) aged 16.1 +/- 1.4 years and 60 adolescent mothers (study II) aged 15.9 +/- 1.4 years who were enrolled in the McCabe Center during the 1992-1993 and 1996-1997 academic years. RESULTS: The incidence of low birth weight infants born to students was 4% in study I and 13.6% in study II. High school continuation/completion rates for study I were 79% at 3 years after leaving the program and 80% for study II at 1 year after leaving the program. DISCUSSION: The young mothers and infants appear to have benefitted from the McCabe Center's intervention. Findings of the study suggest that continued implementation of supportive school-based programs similar to the McCabe Center may help prevent lower birth weight infants born to adolescent mothers and may help decrease the high school drop-out rate among this population.

Professional practice of pediatric nurse practitioners: implications for education and training of PNPs.

INTRODUCTION: The purpose of this study was to describe the characteristics of employment, the characteristics of children served, and the role functions of recent graduates of pediatric nurse practitioner (PNP) programs and to compare these characteristics across programs. METHOD: A 60-item multiple-choice survey tool was sent to graduates from 1996-1998 of 6 universities across the United States. RESULTS: A total of 137 surveys were received for a return rate of 52%. Less than half of the respondents (44%) indicated that they were employed in a primary care practice. Seventy percent indicated they "often" or "sometimes" provided care to children with acute/critical conditions, and 77% reported caring for children with chronic conditions. Role functions of case management, staff development, consultation, administration, and implementation of research were performed "often" or "sometimes" by more than 50% of respondents. Findings were fairly consistent in 5 out of 6 programs surveyed. DISCUSSION: Graduates of PNP programs are increasingly called on to provide care to children with complex health care needs in non-primary care settings. Role functions beyond the traditional areas required for pediatric primary care are now common practice. Educational programs should address these dynamic changes by assessing the adequacy of their curricula and clinical residencies in preparing graduates.

A developmental model for teen-age parent education.

This paper presents the experience of the authors in designing and teaching a parenting class for adolescent parents who have returned to the high school setting after having had a child. In the case of many teen-age parents the developmental tasks of adolescence may conflict with parental demands and responsibilities. These potential conflicts form the framework for important curriculum design issues. A detailed discussion relates the salient developmental characteristics of adolescence and early parenthood to the use of specific classroom strategies such as role play, biographical scripts, family diagrams, developmental charts and classroom debates.

Effects of an urban high school-based child care center on self-selected adolescent parents and their children.

This study examined the effects of an urban high school-based child care center on parenting teens and their children enrolled during 1995-1998. Retrospective record review of 52 low-income, urban adolescent parents enrolled at the Celotto Child Care Center (CCCC) during the period of study was conducted from the CCCC and the high school records. Mean age of the student parents was 17 years (s.d. = 1.3) and mean grade level was 11.2 (s.d. = 1). Most parents were female (98%) and African American (62%). Children enrolled at CCCC had a mean age of 10 months (s.d. = 10.8). Students using the services of CCCC showed improvement in overall grade point averages, and 100% were educationally successful as defined by promotion to the next grade or graduating from high school. None of the students experienced a repeat childbirth during the period of CCCC enrollment. Ninety percent of children were up-to-date with pediatric health visits and immunizations. These results lend strong support to the importance of extending child care and social support services to teen parents, and for the implementation of high school-based child care centers as alternative sites for these critically important services.

Depression in adolescents. Context, manifestations, and clinical management.

The phenomenon of adolescent depression combines depressive symptoms with adolescent developmental variables and contextual factors, such as family patterns, ethnic background, socioeconomic status, gender, biologic factors, and individual experience with personal loss. These developmental and contextual factors lead to specific adolescent manifestations of depression, such as academic problems, sexual activity, substance abuse, conduct disorders, pain, eating disorders, and the potential for suicide. Assessment of the depressed adolescent includes specific questions concerning these possible manifestations and problem behaviors. Thorough assessment always includes questioning about the possibility and lethality of suicidal ideation. Modes of treatment include counseling, various forms of individual and group psychotherapy, environmental manipulation, and use of psychopharmacologic agents. Follow-up care is essential for the prevention or early treatment of future depressive episodes. The ultimate goal of care of the depressed adolescent is to prevent suicide and to minimize disruption of the adolescent developmental process.

A review for school nursing professionals: adolescent depression.

Adolescent depression occurs within various developmental, social, and biologic contexts, and is manifested by traditional depressive symptoms such as fatigue, loss of interest in daily activities, weight changes, sleep disturbances, sad moods, difficulty with concentration, behavioral agitation or lethargy, feelings of worthlessness, and recurrent thoughts of death. Depressed adolescents may combine these symptoms with certain additional behaviors such as academic deterioration, substance abuse, sexual activity, somatic complaints, eating disorders, conduct disorders, and other risk-taking behaviors. School nurses can play a central role in the prevention, assessment, referral, and follow-up care of this significant adolescent health problem.

The adolescent parent: A dual developmental crisis.

This paper examines salient developmental characteristics of adolescents and beginning parents. In the case of many teenage parents, specific developmental tasks of adolescence affect and may potentially conflict with the tasks of early parenthood. A conceptual framework is presented which describes this conflict and serves as the basis for examining and explaining certain unique behaviors observed in young adolescent parents.

PIP: This paper examines salient developmental characteristics of adolescents and beginning parents especially the teenage mother. In the case of many teenage parents, specific developmental tasks of adolescence affect and may potentially conflict with the tasks of early parenthood. Thus the narcissism and egocentrism of adolescence may interfere with the development of empathy with the child and mutuality. The processes of identity formation and role experimentation may be inhibited by maternal identification and role definition. Sexual identity formation may conflict with the body-image changes connected with pregnancy. The need for emancipation from the family may be eclipsed by the new dependency created by the birth of a child. The developmental continua are used to present a conceptual framework which describes this conflict and serves as the basis for examining and explaining certain unique behaviors observed in adolescent parents. The framework also provides a basis for a multitude of research possibilities.

Parental competence among African American adolescent mothers and grandmothers.

This study describes the influence of grandmothers on parental competence among urban African American adolescent mothers, using a model adapted from Belsky's (1984) Determinants of Parenting Process Model. The sample included 53 pairs of urban African American mothers (age 16.4 +/- 1.2 years) and their mothers (age 39.2 +/- 4.3 years). All adolescents were enrolled in school, co-resided with mothers, and had infants ages 4 to 8 months. Survey instruments measured personal resources, perception of infant temperament, and contextual sources of support and stress. The outcome measure for adolescent mothers was perceived parental competence. Multiple regression analyses indicated adolescent mothers' self-esteem and mastery explained 41% of the variance and grandmothers' self-esteem explained 42% of the variance in adolescent mothers' parental competence. A combined regression equation demonstrated that adolescent mothers' mastery and grandmothers' self-esteem accounted for 65% of the variance in adolescent mothers' parental competence.

Adolescent parents and toddlers: strategies for intervention.

Adolescents share many developmental similarities with toddlers. When an adolescent becomes a mother, the parent-toddler relationship is affected by the level of development of both individuals. It may be nurturing and satisfying, or it may be conflicted and frustrating for both. By comparing the developmental similarities the two share, the nurse is provided with a framework for assessing and working with these clients.

Carotid ultrasound examination in Williams syndrome.

OBJECTIVE: To noninvasively measure arterial wall thickness in a group of patients with Williams syndrome (WS). METHODS: High-resolution, real-time B-mode ultrasonography was used to examine the carotid arteries of 20 patients with WS (ages 7 months to 24.9 years) and 25 control subjects (ages 2.5 years to 25.5 years). RESULTS: The mean combined intimal-medial wall thickness of the patients in the WS group was 0.86 mm +/- 0.08 mm compared with a mean of 0.54 mm +/- 0.05 mm in the control subjects (p < 0.0001). Within the WS group, arterial wall thickness did not vary significantly with gender, patient age, the presence or absence of stenotic cardiac disease, or the presence or absence of hypertension. CONCLUSIONS: The ultrasonographic finding of increased carotid arterial wall thickness across a wide range of patients with WS demonstrates the pervasive nature of the arteriopathy of this disorder. That increased arterial wall thickness was observed in all patients studied suggests that the arteriopathy of WS is related to haploinsufficiency for the elastin gene.

Differences by sex in cardiovascular disease in Williams syndrome.

OBJECTIVE: To analyze the incidence and severity of cardiovascular disease in patients with Williams syndrome (WS) and to identify factors contributing to its variable expression. METHODS: Clinical data on patients with WS were collected from several WS centers. Elastin gene deletions were confirmed in all patients. Age at diagnosis, growth data, and cardiovascular diagnoses were recorded retrospectively. Cardiac diagnoses were made on the basis of echocardiographic data. The severity of supravalvular aortic stenosis was recorded by using a 4-step scale (none, mild, moderate, severe). RESULTS: Statistical analysis of the data revealed that the severity of both supravalvular aortic stenosis and total cardiovascular disease was significantly greater in male patients than female patients (P <.002 and P <.002, respectively; Kruskal-Wallis rank-sum test). This difference was not accounted for by differences in height, weight, body mass index, or head circumference. The clinical diagnosis of WS was made at a significantly younger age in male patients (P <.01, Student t test). Earlier diagnosis was partly because of increased incidence and severity of cardiovascular disease. Another determinant of early diagnosis was low body mass index. CONCLUSION: Penetrance and severity of the elastin arteriopathy in patients with WS is affected by sex. We hypothesize that differences by sex in arterial stenoses may be related to prenatal hormonal effects. Future epidemiologic and in vitro studies may provide additional insight into the pathogenetic mechanisms of these observed differences.