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Quality of Life (QOL) and Health-Related Quality of Life (HRQOL) are important concepts across the life span for those with spina bifida (SB). This article discusses the SB Quality of Life Healthcare Guidelines from the 2018 Spina Bifida Association’s Fourth Edition of the Guidelines for the Care of People with Spina Bifida. The focus of these QOL Guidelines was to summarize the evidence and expert opinions on how to mitigate factors that negatively impact QOL/HRQOL or enhance the factors positively related to QOL/HRQOL, the measurement of QOL/HRQOL and the gaps that need to be addressed in future research.

Purpose The measurement of Quality of life (QOL) in adolescents and especially in adolescents with disabilities is limited, often by an assessment of function rather than perception. This analysis explores QOL in adolescents and young adults (AYA) with and without Spina Bifida (SB) from the perspective of AYA and their parents. Design and methods A descriptive study using content analysis was conducted as a component of a larger multi-site mixed-method study of secondary conditions and adaptation. Participants responded to a single open-ended question on the meaning of quality of life. Results Descriptive accounts from 209 families generated the following shared categories: an engaged family, a positive life, the goal of independence, being healthy, essential needs for living, having friends, relying on faith, and romantic relationships. A unique category emerged from parents, doing what AYA wants to do. Conclusions Family was the most frequently nominated component of QOL. The centrality of family in QOL is an important finding generally not assessed in measures of QOL or even less in health-related QOL instruments. Practice implications Findings illustrate the importance of evaluating overall QOL from the perspective of AYA and their parents.

Self-management and independence behaviors are associated with improved health conditions common to spina bifida such as skin integrity and bowel and bladder management. While most children with spina bifida ultimately achieve basic self-care behaviors, (e.g., dressing appropriately, planning activities with peers, or cooking pre-planned meals), they often lag 2–5 years behind their typically-developing peers in these activities [1]. Valid and reliable condition-specific assessments of self-management and independence are critical to optimizing outcomes for this population. Partnerships among parents, clinicians, and youths with spina bifida are essential to implementing tailored interventions based on these assessments. The guidelines delineated in this article are informed by current self-management research for people with spina bifida and offer recommendations to promote self-management and independence across the lifespan.

PURPOSE Psychometric data are reported for a new Global Family Quality of Life Scale (G-FQOLS) (3-items) evaluating family members, parents and adolescent/young adults (AYA). METHODS Families (N= 209) were interviewed in a study addressing secondary conditions and adaptation in families of AYA with and without spina bifida (SB). Principal component factor analysis with Varimax rotation, Cronbach alpha, and Intraclass correlation (ICC) for parent-AYA agreement of FQOL assessment were conducted. RESULTS A single factor with an eigenvalue greater than 1 was identified. Factor loadings were 0.79-0.94. Internal reliabilities were strong (α= 0.86-0.90). ICC coefficients between parent and AYA ratings were 0.38-0.48. CONCLUSION This study provides preliminary support for the G-FQOLS. This global appraisal of Family Quality of Life (FQOL) reflects a participant's personal weighting of domains important to him/her.

Purpose Continence is low in individuals with spina bifida, but published prevalence varies markedly across studies. The objective of this study was to examine bladder and bowel continence among patients served by multidisciplinary clinics participating in the National Spina Bifida Patient Registry and to examine whether variation in prevalence exists across clinics. Methods Data were obtained from patients 5 years and older from March 2009 to December 2012. Data were gathered at clinic visits using standardized definitions. Results Data from 3252 individuals were included. Only 40.8% of participants were continent of urine; 43% were continent of stool. Bladder and bowel continence differed by spina bifida type, with those with myelomeningocele having significantly lower reported prevalence of continence than those with other forms of spina bifida. Bladder and bowel continence varied across registry sites. Adjustment based on demographic and condition-specific variables did not make substantive differences in prevalence observed. Conclusion Less than half of spina bifida patients served in multidisciplinary clinics report bladder or bowel continence. Variability in prevalence was observed across clinics. Further research is needed to examine if clinic-specific variables (e.g., types of providers, types of interventions used) account for the observed variation.

Purpose Measuring self-management behaviors in adolescents and young adults with chronic health conditions has become a priority in health care, yet there is a paucity of instruments that capture these behaviors. The purpose of this psychometric study was to evaluate the reliability and validity of the 17-item generic Adolescent/Young Adult Self-Management and Independence Scale II (AMIS II). Method Data were collected from 201 adolescents/young adults (AYA) with spina bifida and 129 of their parents. Exploratory factor analysis, confirmatory factor analysis, Cronbach alpha, frequencies, Pearson correlations, and intraclass correlations were used to evaluate the data. Results The exploratory factor analysis of parent data supported two related self-management factors (Condition Self-Management and Independent Living Self-Management). Confirmatory factor analysis of AYA data confirmed these two factors and an overall scale with good fit statistics (GFI and CFI = 0.86-0.95; RMSEA = 0.057). Internal reliabilities ranged from α= 0.72-0.89. Intraclass correlation analysis supported the stability of the instrument (ICC parent report = 0.82, AYA report = 0.84). Concurrent validity was supported with low to moderate correlations to six related but distinct variables. Conclusion Psychometric analysis supports this expanded measure of self-management for AYA with spina bifida. Evaluation of this instrument in AYA with other chronic health conditions is underway.

Background We combined literature review and consensus-building methodologies to develop health care guidelines for people with Spina Bifida across the life span. Objective The present paper describes the methodology used to update and expand this fourth edition of the Guidelines for the Care of People with Spina Bifida (“Guidelines”). This process was a fundamental initiative within the Spina Bifida Collaborative Care Network. Methods Working groups were formed consisting of international, multidisciplinary teams of clinical and research experts. A systematic review of multiple databases was conducted. The consensus building methodology, One-Text Procedure, was followed to draft and revise documents. Each section of the Guidelines was presented by working group chairs at a face-to-face meeting using the Nominal Group Technique (NGT). Results The Level 1 review resulted in 2449 abstracts being reviewed, and the Level 2 review resulted in 874 full text articles being archived for working groups. After working groups added and eliminated articles, a total of 803 manuscripts were included in the bibliography of the Guidelines. The final version of the Guidelines was then released in 2018. Conclusions Evidenced based-research and consensus methodologies were used to develop the fourth edition of the Guidelines. It is hoped that this document will guide not only health care providers, but also patients and families, so that people with Spina Bifida can have the best and most scientifically-based care and treatments throughout ever-longer and higher-quality lives.

Purpose The purpose of this study is to determine if neuropsychological functioning and family protective factors are related to depressive symptoms in parents of adolescents with myelomeningocele (MMC). Methods Fifty adolescents (28 females, 22 males; predominately Caucasian; ages 12-21 years, M=15.7, SD=2.4) and their parents from a large Midwestern MMC Program participated in a cross-sectional descriptive mixed-methods study. Participants completed measures of adolescent clinical status (WeeFIM®, Demographic and Clinical Information Form), neuropsychological (NP) functioning, family protective factors and parents' depressive symptoms. Results Parents' depressive symptoms correlated significantly with NP functioning in the domains of Mental Processing Speed, Psychomotor Speed, Executive Functioning, Fine Motor Skills, and Language, and with each self-reported family protective factor. Multiple regression analysis revealed independent main effects for the NP variable, Executive Functioning and the Family Protective Factors Composite (p 0.10). Conclusion Clinicians are especially encouraged to include assessment of parental depressive symptoms if the adolescent has executive functioning impairments or if the parents have few family protective factors.

It is essential for youth with chronic health conditions like spina bifida (SB) to develop self-management skills to combat vulnerability, achieve self-sufficiency, and transition to adulthood. The purpose of this qualitative study was to describe the experience of self-management in 31 adolescent women with SB. Three themes emerged from this study: (1) opportunities to engage in self-management activities--knowledge, skills, and aspirations; (2) dance of individuation--parental impact on self-management; and (3) advocacy within self-management--confronting discrimination and stigma. The findings indicate that assessment and interventions to enhance self-management in adolescent women with SB are critical for supporting the range of condition-related and life skills needed for a transition to adulthood and independent living.

Background Neural tube defects (NTDs), including spina bifida and anencephaly, are the second most common birth defect with an incidence of 1/1000. Genetic factors are believed to contribute to NTD risk and family-based studies can be useful for identifying such risk factors. Methods We ascertained 1066 NTD families (1467 affected patients), including 307 multiplex NTD families. We performed pedigree analysis to describe the inheritance patterns, pregnancy outcomes, and recurrence risks to relatives of various types. Results Myelomeningocele or spina bifida (66.9%) and cranial defects (17.7%) were the most common NTD subtypes observed. The overall male:female ratio for affected individuals was 0.82, and there were even fewer males among individuals with an upper level NTD (0.62). Among twins, 2 of the 5 monozygotic twins and only 3 of 35 dizygotic twins were concordant, while 27% of the same sex twins were concordant, but none of the different sex twins. The estimated 6.3% recurrence risk to siblings (CI 0.04-0.08) is consistent with previous reports. Families with two or more affected individuals show a higher proportion of female transmitters (p = 0.0002). Additionally, the number of affected relatives in maternal compared to paternal lineages was more than double (p = 0.006). There were significantly more miscarriages, infant deaths, and stillborn pregnancies of the maternal aunts and uncles (p Conclusions Our data provide several lines of evidence consistent with a maternal effect, as well as a sex-influenced effect, in the etiology of NTDs.

Adolescent women with spina bifida (SB) face unique and diverse challenges. The purpose of this qualitative component of a larger mixed-method study on adaptation was to heighten rehabilitation nurses' understanding of self-concept and family relationships during adolescence. Interviews were conducted with 31 adolescent women and analyzed for themes. The women described a range of experiences, including challenges of typical adolescence, specific concerns about living with SB, school-based stressors, and incidences of teasing and bullying. The overall self-concept was primarily positive, despite the diverse stressors encountered. A significant source of strength was the close relationships with parents, although an undercurrent of tension related to independence was also expressed. Results from this study support the need for rehabilitation nurses to address not only the functional status but also the well-being and psychosocial challenges of adolescent women with SB.

BACKGROUND: Neural tube defects (NTDs) are considered complex, with both genetic and environmental factors implicated. To date, no major causative genes have been identified in humans despite several investigations. The first genomewide screen in NTDs demonstrated evidence of linkage to chromosomes 7 and 10. This screen included 44 multiplex families and consisted of 402 microsatellite markers spaced ∼10 cM apart. Further investigation of the genomic screen data identified a single large multiplex family, pedigree 8776, as primarily driving the linkage results on chromosome 7. METHODS: To investigate this family more thoroughly, a high-density single nucleotide polymorphism (SNP) screen was performed. Two-point and multipoint linkage analyses were performed using both parametric and nonparametric methods. RESULTS: For both the microsatellite and SNP markers, linkage analysis suggested the involvement of a locus or loci proximal to the telomeric regions of chromosomes 2q and 7p, with both regions generating a LOD* score of ∼3.0 using a nonparametric identity by descent relative sharing method. CONCLUSIONS: The regions with the strongest evidence for linkage map proximal to the telomeres on these two chromosomes. In addition to mutations and/or variants in a major gene, these loci may harbor a microdeletion and/or translocation; potentially, polygenic factors may also be involved. This single family may be promising for narrowing the search for NTD susceptibility genes. Birth Defects Research (Part A) 76:499-505, 2006.

BACKGROUND Vitamin A (retinol), in the form of retinoic acid (RA), is essential for normal development of the human embryo. Studies in the mouse and zebrafish have shown that retinol is metabolized in the developing spinal cord and must be maintained in a precise balance along the anteroposterior axis. Both excess and deficiency of RA can affect morphogenesis, including failures of neural tube closure. METHODS We chose to investigate 5 genes involved in the metabolism or synthesis of RA, ALDH1A2, CYP26A1, CYP26B1, CRABP1, and CRABP2, for their role in the development of human neural tube defects, such as spina bifida. RESULTS An association analysis using both allelic and genotypic single-locus tests revealed a significant association between the risk for spina bifida and 3 polymorphisms in the gene ALDH1A2; however, we found no evidence of a significant multilocus association. CONCLUSIONS These results may suggest that polymorphisms in ALDH1A2 may influence the risk for lumbosacral myelomeningocele in humans. Birth Defects Research (Part A), 2005. © 2005 Wiley-Liss, Inc.

Neural tube defects (NTDs) are the second most common birth defects (1 in 1000 live births) in the world. Periconceptional maternal folate supplementation reduces NTD risk by 50–70%; however, studies of folate related and other developmental genes in humans have failed to definitively identify a major causal gene for NTD. The aetiology of NTDs remains unknown and both genetic and environmental factors are implicated. We present findings from a microsatellite based screen of 44 multiplex pedigrees ascertained through the NTD Collaborative Group. For the linkage analysis, we defined our phenotype narrowly by considering individuals with a lumbosacral level myelomeningocele as affected, then we expanded the phenotype to include all types of NTDs. Two point parametric analyses were performed using VITESSE and HOMOG. Multipoint parametric and nonparametric analyses were performed using ALLEGRO. Initial results identified chromosomes 7 and 10, both with maximum parametric multipoint lod scores (Mlod) >2.0. Chromosome 7 produced the highest score in the 24 cM interval between D7S3056 and D7S3051 (parametric Mlod 2.45; nonparametric Mlod 1.89). Further investigation demonstrated that results on chromosome 7 were being primarily driven by a single large pedigree (parametric Mlod 2.40). When this family was removed from analysis, chromosome 10 was the most interesting region, with a peak Mlod of 2.25 at D10S1731. Based on mouse human synteny, two candidate genes (Meox2, Twist1) were identified on chromosome 7. A review of public databases revealed three biologically plausible candidates (FGFR2, GFRA1, Pax2) on chromosome 10. The results from this screen provide valuable positional data for prioritisation of candidate gene assessment in future studies of NTDs.

Adolescents with complex neurological conditions such as spina bifida require a holistic approach to their health care. Quality of Life (QOL) and the factors associated with QOL are important and understudied variables for these adolescents. A sample of 60 adolescents and their parents was interviewed to determine a) the adolescent’s and family’s QOL, b) condition/adolescent/family factors associated with QOL measures, and c) the relationship between adolescent and parent ratings on QOL measures. QOL was moderately high in these families. Few condition measures were related to QOL. However, several adolescent and family factors were significantly related to both overall QOL and health-related quality of life. There was no difference between adolescents and their parents on overall adolescent and family QOL items. Holistic practitioners need to be aware of areas perceived positively and negatively by these adolescents and their families as well as factors associated with outcomes.

The primary purpose of this study was to describe and compare medical, psychosocial, and economic needs of adolescents and young adults with a neural tube defect and their parents. A secondary aim of the study was to establish the psychometric properties of a previously published needs assessment tool. Forty-nine adolescent and 59 parents receiving services from a comprehensive spina bifida program at a large children's hospital completed a needs assessment survey designed to measure perceived needs for health and social services. The Needs Assessment Questionnaire includes 8 subscales (Accessibility/Transportation/Independence, Financial Concerns, Medical Resources, Communication/Acceptance of individuals with spina bifida, Family/Socialization, Education of others regarding spina bifida, School Services, and Vocational Training). Factors related to perceived needs and differences between adolescents and parents were explored. There was a significant difference (

BACKGROUND Neural tube defects (NTDs) are the second most common birth defects, after congenital heart defects. Telomerase, the reverse transcriptase that maintains telomere DNA, has been shown to be important for neural tube development and bilateral symmetry in the brain. In knockout mice null for the telomerase RNA component (TERC), telomere loss results in the failure of neural tube closure, primarily at the forebrain and midbrain. METHODS We investigated TERC for variants that may predispose to human NTDs in 477 NTD cases with a variety of phenotypic presentations. RESULTS Two novel single nucleotide polymorphisms were identified in the human TERC sequence but showed no association with the NTD phenotype. CONCLUSIONS Variants in TERC are unlikely to be a major risk factor for the most common form of human NTDs, lumbosacral myelomeningocele. Birth Defects Research (Part A), 2004. © 2004 Wiley-Liss, Inc.

Adolescents with spina bifida (SB) vary in their ability to adapt to the disease, and it is likely that numerous risk and protective factors affect adaptation outcomes. The primary aim was to test neuropsychological impairment, exemplified herein by executive dysfunction, as a risk factor in the Ecological Model of Adaptation for Adolescents with SB. Specific hypotheses were that: (1) executive functioning predicts the adaptation outcome of functional independence in adolescents with SB; (2) executive functioning mediates the impact of neurological severity on functional independence; and (3) family and adolescent protective factors are related to functional independence and moderate the relationship between executive functioning and functional independence. Forty-three adolescents aged 12–21 years completed neuropsychological measures and an interview that assessed risk, adolescent and family protective factors, and functional independence. Age, level of lesion, executive functioning, and the protective factor adolescent activities were significantly correlated with the functional independence outcome. In hierarchical regression analysis, the model accounted for 61% of the variance in functional independence outcomes. Executive functioning mediated the impact of neurological severity on functional independence. (JINS, 2008, 14, 793–804.)

BACKGROUND: NTDs are considered complex disorders that arise from an interaction between genetic and environmental factors. NTD family 8776 is a large multigenerational Caucasian family that provides a unique resource for the genetic analysis of NTDs. Previous linkage analysis using a genome-wide SNP screen in family 8776 with multipoint nonparametric mapping methods identified maximum LOD* scores of ∼3.0 mapping to 2q33.1–q35 and 7p21.1–pter. METHODS: We ascertained an additional nuclear branch of 8776 and conducted additional linkage analysis, fine mapping, and haplotyping. Expression data from lymphoblast cell lines were used to prioritize candidate genes within the minimum candidate intervals. Genomic copy number changes were evaluated using BAC tiling arrays and subtelomeric fluorescent in situ hybridization probes. RESULTS: Increased evidence for linkage was observed with LOD* scores of ∼3.3 for both regions. Haplotype analyses narrowed the minimum candidate intervals to a 20.3 Mb region in 2q33.1–q35 between markers rs1050347 and D2S434, and an 8.3 Mb region in 7p21.1–21.3 between a novel marker 7M0547 and rs28177. Within these candidate regions, 16 genes were screened for mutations; however, no obvious causative NTD mutation was identified. Evaluation of chromosomal aberrations using comparative genomic hybridization arrays, subtelomeric fluorescent in situ hybridization, and copy number variant detection techniques within the 2q and 7p regions did not detect any chromosomal abnormalities. CONCLUSIONS: This large NTD family has identified two genomic regions that may harbor NTD susceptibility genes. Ascertainment of another branch of family 8776 and additional fine mapping permitted a 9.1 Mb reduction of the NTD candidate interval on chromosome 7 and 37.3 Mb on chromosome 2 from previously published data. Identification of one or more NTD susceptibility genes in this family could provide insight into genes that may affect other NTD families. Birth Defects Research (Part A), 2008. © 2008 Wiley-Liss, Inc.

Relationships are much more complex for those with disabilities than for those without disabilities. This study was part of a larger mixed-method investigation that explored comprehensive aspects of adaptation in adolescents with spina bifida (SB). The purpose of this qualitative component of the study was to explore the experiences of peer relationships in 31 adolescent women with SB. The participants were interviewed, and analysis was conducted for common themes. The five major themes and one subtheme were peers without disabilities (subtheme: peers with disabilities), normalization, challenges in peer connectedness, peer connectedness with adults, and romantic connectedness. Whereas some participants voiced close connections with peers, others described prejudices, stereotyping, and limited dating experiences. Results from this study support the need for comprehensive assessment of social relationships in adolescent women with SB and active interventions to address problems identified. Rehabilitation nurses are in a key position to implement social interventions in adolescents and young women with SB.

To describe factors associated with pressure ulcers in individuals with spina bifida (SB) enrolled in the National Spina Bifida Patient Registry (NSBPR).Unbalanced longitudinal multicenter cohort study.Nineteen SB clinics.Individuals with SB (N=3153) enrolled in 19 clinic sites that participate in the NSBPR.Not applicable.Pressure ulcer status (yes/no) at the annual visit between 2009 and 2012.Of 3153 total participants, 19% (n=603) reported ulcers at their most recent annual clinic visit. Seven factors-level of lesion, wheelchair use, urinary incontinence, shunt presence, above the knee orthopedic surgery, recent surgery, and male sex-were significantly associated with the presence of pressure ulcers. Of these factors, level of lesion, urinary incontinence, recent surgery, and male sex were included in the final logistic regression model. The 3 adjusting variables-SB type, SB clinic, and age group-were significant in all analyses (all P.001).By adjusting for SB type, SB clinic, and age group, we found that 7 factors-level of lesion, wheelchair use, urinary incontinence, shunt presence, above the knee orthopedic surgery, recent surgery, and male sex-were associated with pressure ulcers. Identifying key factors associated with the onset of pressure ulcers can be incorporated into clinical practice in ways that prevent and enhance treatment of pressure ulcers in the population with SB.

The development of self-management skills by adolescents with myelomeningocele is an ongoing process. Previous studies lack consensus about what data can be accurately obtained from adolescents. This cross-sectional study using a convenience sample of 66 adolescent-parent dyads evaluated whether adolescents with myelomeningocele and their parents are interchangeable reporters of data. Adolescents' ages ranged from 12 to 21 years with a mean of 16 years 2 months (SD 2y 8mo); 38 were female, 28 were male; 30% had thoracic lesions, 32% had lumbar lesions, 15% had lumbosacral lesions, 23% had sacral lesions, and 85% had ventriculoperitoneal shunts. In this analysis, participants reported activities (decision-making, household responsibility, and friendship activities) and select outcomes (functional status, self-management, and social competence) similarly. However, differences emerged in reports of beliefs (adolescent future expectations, family variables) and select developmental competencies (school, job, athletic, behavioral, attractiveness, and romantic appeal). Analysis using t-test and interclass correlations supported a pattern of adolescent-parent agreement in areas of observable behavior and differences in more subjective domains such as perception of developmental competencies.

The Carnegie Council on Adolescent Development, USA has identified activities, beliefs, and perceptions critical for healthy development. The aim of this study was to measure the activities, beliefs and expectations, and perceived outcomes of adolescents with myelomeningocele. In this descriptive study, 66 adolescents with myelomeningocele, aged 12 to 21 years and functioning at grade level, completed a structured interview. Thirty-eight (58%) of the participants were female. The level of lesion was distributed as follows: 30% had thoracic level lesions, 32% had lumbar level lesions, 15% had lumbosacral level lesions, and 23% of the sample had sacral level lesions. Instruments used had both established reliability and validity (WeeFIM, Harter's Self-Perception Profile, Austin's Child Attitude Toward Illness Scale, and Snyder's Hope Scale, Adolescent Decision-Making Inventory, Adolescent Coping Scale) or were scales developed for this study (Adolescent Activities Inventory, Future Expectations Scale, Communication Efficacy, and Adolescent Self-Management and Independence Scale). Scale reliabilities ranged from 0.70 to 0.88. These participants, though hopeful and positive in their attitudes toward myelomeningocele and generally able to perform activities of daily living independently, are not engaging in the full range of adolescent activities (decision making, friendship activities, and household responsibilities) and achieving positive outcomes (self-management and job) necessary to make a successful transition to adulthood. This might explain why so many individuals with myelomeningocele are underemployed and are not living independently as young adults.

Parents of adolescents with spina bifida (SB) face unique challenges of which they may not be aware. The purpose of this study was to heighten awareness of the challenge of parenting such adolescents. This enhanced understanding can help rehabilitation professionals optimize their interventions with families. In this qualitative study, which was part of a larger mixed-method descriptive investigation exploring adaptation by adolescents with SB, we used content analysis to evaluate 20 parent interviews for common domain, themes, and subthemes. The analysis yielded four major domains: (a) daily life experiences, (b) the dance of individuation, (c) reflections on parenting, and (d) practice suggestions for healthcare professionals. Overall, experiences of the parents were positive. Parents described meeting daily demands and balancing independence-dependence needs with the adolescent as major challenges. Rehabilitation professionals must provide guidance to foster autonomy, decision making, cognitive skill building, and coping skills to help parents and adolescents manage independence-dependence issues and multiple life demands.

Adolescents with spina bifida (SB), a congenital spinal cord impairment, are at high risk for negative outcomes. Even those with favorable cognitive status often fail to achieve independence, exhibiting poor functional and psychosocial outcomes. The purpose of this study was to examine the relationship between adaptation outcomes (functional status, self-management, and developmental competence) and SB condition-specific, adolescent protective factors, and family protective factors in a sample of adolescents with SB. Individual, interpersonal, and social developmental competence were explored. Sixty-six adolescent/parent pairs were interviewed. Data analysis included descriptive statistics, Cronbach alpha coefficients, and partial correlations controlling for age. All instruments had acceptable reliabilities. Factors associated with outcomes generally fell into two patterns. SB condition-specific variables and adolescent activities (e.g., decision-making, household responsibilities) were related to functional status, self-management, and social competence. In contrast, adolescent beliefs (hope, attitude, and communication efficacy) were predominantly related to individual, interpersonal, and overall developmental competence.

Information is reviewed on the ophthalmologic findings in 614 individuals with Rubinstein-Taybi syndrome (RTS): The data were collected from the world literature, from communication with colleagues and with families of individuals with RTS, and from personal observations. Particular emphasis is given in this article to the association of RTS with glaucoma and five other findings that may be confused with glaucoma (corneal lesions, megalocomea, colobomatous or cystic optic nerve, excavation of papilla, and large cup-to-disc ratio). A case report is presented including autopsy results on a 5-year- old black female with RTS, corneal lesions, colobomas of the optic nerves, and normal intraocular pressure.

Gastroesophageal abnormalities occur with increased frequency in patients with Brachmann-de Lange syndrome (BDLS) and contribute to problems with feeding, emesis and failure to thrive. Comprehensive evaluation including longitudinal assessment of growth and development of 8 patients with BDLS was performed. Clinically significant feeding problems occurred in 6 of the 8 patients and the affected children were subsequently evaluated for gastrointestinal abnormalities. Findings in these patients included tracheal aspiration, esophageal dysmotility, gastroesophageal reflux, hiatal hernia, and esophagitis. Medical treatment was instituted where appropriate, and surgical treatment was performed if the problems did not resolve with medical treatment. Improvement in weight centiles occurred in all patients fed by nasogastric or feeding gastrostomy tube but only one patients appeared to experience increase in rate linear growth. Careful monitoring of symptoms and growth parameters, and prompt institution of appropriate medical and surgical measures can improve the health and physical outcome of many patients with BDLS. © 1993 Wiley-Liss, Inc.