Observed and perceived dyadic and systemic functioning in families of preadolescents with spina bifida

OBJECTIVE: To examine dyadic and systemic family functioning across several domains (conflict, cohesion, and stress) in families of preadolescents with spina bifida in comparison to families of able-bodied preadolescents (8- and 9-year olds; n = 68 in each sample). METHODS: Mother-, father-, and child-reported questionnaire data and observational ratings of family behavior were employed. RESULTS: Findings revealed significant group and socioeconomic status (SES) differences, particularly for the observational family data. Compared to families of able-bodied children, families in the spina bifida sample were less cohesive and children from this sample were more passive during family interaction tasks. Additional analyses suggested that some of these significant associations between group status and family functioning were mediated by verbal IQ, indicating that a significant portion (42%-55%) of the overall group effect was due to variations in child cognitive functioning. Lower SES families demonstrated higher levels of observed mother-child conflict, less observed and perceived family cohesion, and more life events. Lower SES families from the spina bifida sample appear to be particularly at risk for lower levels of family cohesion. CONCLUSIONS: Findings for the spina bifida sample support a resilience-disruption view (Costigan, Floyd, Harter, & McClintock, 1997) of systemic functioning in families of children with pediatric conditions.     

Maternal, Paternal, and Marital Functioning in Families of Preadolescents with Spina Bifida

Based on a family systems/social-ecological perspective, mothersand fathers of 8-and 9-year-old children with spina bifida (n=55;28male, 27 female) were examined in comparison to a matched groupof parents with 8-and 9-year-old able-bodied children (n=55;29 male, 26 female) across several areas of functioning (individual,parental and marital). Findings suggested that mothers and fathersin the spina bifida sample tended to report more psychosocialstress than their counterparts in the able-bodied sample. Specifically,mothers and fathers in the spina bifida group reported lessparental satisfaction than parents in the able-bodied group.Mothers in the spina bifida group reported less perceived parentalcompetence, more social isolation, and less adaptability tochange; fathers in the spina bifida group reported more psychologicalsymptoms. No differences between the spina bifida and able-bodiedgroups were found with respect to marital satisfaction. Copingpredictors of adjustment tended to vary as a function of parentgender rather than group status.     

A longitudinal study of pubertal timing,parent-child conflict,and cohesion in families of young adolescents with spina bifida

OBJECTIVE: To study longitudinal associations between perceived pubertal timing and family conflict and cohesion during the transition to adolescence in 68 families of children with spina bifida and 68 matched families with able-bodied children. Children were 8 or 9 years old at Time 1 and 10 or 11 years old at Time 2. METHODS: Family conflict and cohesion were assessed with observational data and maternal, paternal, and child reports on questionnaires. Perceived pubertal timing was assessed with maternal report. RESULTS: Consistent with the literature on typically developing young adolescents, prospective longitudinal analyses revealed that early maturity was associated with higher levels of conflict and decreases in cohesion in families with able-bodied children. Contrary to these findings, perceived pubertal timing had less of an impact (or the opposite impact) in families of children with spina bifida. Findings were robust across respondents and methods of data collection. CONCLUSIONS: Findings based on multimethod and multisource data suggest that familial response to developmental change differs across context (spina bifida vs. able-bodied). Possible reasons for differential responses to the adolescent transition are reviewed. Services are likely to be enhanced if health professionals routinely discuss adolescent developmental issues with parents and youths during clinic visits.     

Spinal Lesion Level, Shunt Status, Family Relationships, and Psychosocial Adjustment in Children and Adolescents with Spina Bifida Myelomeningocele

Investigated whether family functioning and child psychosocialadjustment were associated with spinal lesion level and shuntstatus in 65 children and adolescents with spina bifida myelomeningocele(age range = 8–16). Mothers of children with higher lesionlevels (i.e., thoracic level) reported more attachment to theirchildren, less family conflict, and a greater willingness togrant autonomy to their offspring. Such findings support a "marginality"interpretation of the data, insofar as the least physicallyimpaired children with spina bifida exhibited the greatest familydifficulties. Based on maternal report, children with shuntsperformed more poorly in school and exhibited lower levels ofcognitive competence than children without shunts. Findingsare discussed in relation to literatures on neuropsychologicalfunctioning and psychosocial adjustment in children with spinabifida.     

Goal-Directed Behavior and Perception of Self-Competence in Children with Spina Bifida

Compared a group of school-age children with spina bifida (n= 75) between the ages of 6 and 12 years with an age- and IQ-matchedcontrol group of normal children (n = 15). As predicted, thespina bifida children spent less time using goal-directed behaviorsand more time in simple manipulation of the toys compared tothe normal children. There were no group differences betweenthe spina bifida and normal children's perceived competencebut parents of the spina bifida children rated their childrenas having lower cognitive and physical competence. Associationswere found between goal-directed behaviors and perceived self-competencefor children in the spina bifida group but not the normal group.     

Attention and executive functions in adolescents with spina bifida

OBJECTIVE: This study was designed to examine attention processes and executive functioning in adolescents with spina bifida, and to explore whether impairment in these domains contributes to problems with social adjustment. METHODS: A sample of adolescents with spina bifida (n = 68) and a matched comparison group (n = 68) and their families were followed longitudinally. All participants completed questionnaires, and the adolescent participants underwent neurocognitive testing. RESULTS: The spina bifida sample showed greater impairment on objective and subjective measures of attention and executive functioning, even when differences in intellectual functioning were controlled. Additionally, attention and executive deficits were found to be predictive of social adjustment difficulties. A mediational analysis suggested the neurocognitive deficits mediate associations between spina bifida status and social adjustment difficulties. CONCLUSIONS: Adolescents with spina bifida appear to exhibit clear impairment in attention and executive functioning and this impairment may contribute to their well-established social difficulties.     

A multimethod,multi-informant,and multidimensional perspective on psychosocial adjustment in preadolescents with spina bifida

This study examined the psychosocial adjustment of preadolescents with spina bifida in relation to a comparison sample of able-bodied preadolescents (8- and 9-year-olds; n = 68 in each sample). The study also examined the potential clinical utility of a narrowband multimethod, multi-informant, and multidimensional perspective on the assessment of psychosocial functioning in children and adolescents with pediatric conditions. Findings revealed that children with spina bifida tended to be socially immature and passive, less likely to have social contacts outside of school, more dependent on adults for guidance, less competent scholastically, less physically active, less likely to make independent decisions, and more likely to exhibit attention and concentration difficulties. No group differences were found for externalizing symptoms, affective functioning, or global self-worth, suggesting resilience in these domains for the spina bifida sample. Findings also suggest that low socioeconomic status and the presence of a physical disability may be additive risk factors for certain psychosocial adjustment difficulties.     

Parent-child problem-solving interactions in families of visually impaired youth

Investigated problem-solving and conflict-resolution strategies, an important aspect of family functioning, in visually impaired adolescents and their parents. Visually impaired adolescents were compared to adolescents with spina bifida and a control group of adolescents without disabilities. Parent-adolescent dyads participated in a problem-solving discussion of topics reflecting family disagreement. Videotapes of these discussions were rated for patterns of interaction using the Marital Interaction Coding System (MICS-III). Examination of positive and negative reciprocal patterns of interaction using sequential analyses and contrasting frequencies of specific behavioral codes revealed no differences between groups for adolescents, mothers, and fathers on the problem-solving discussion. Results are discussed in terms of (a) the impact of visual impairment on family functioning and (b) the need to identify those subgroups of visually impaired and their families that may be at heightened risk for maladjustment.     

Behavioral Adjustment of Children With Hydrocephalus: Relationships With Etiology, Neurological, and Family Status

Examined the relationship of hydrocephalus and behavioral adjustmentin three groups of 5- to 7-year-old children (N = 84) with ahistory of early hydrocephalus (spina bifida, prematurity, aqueductalstenosis) and three non-hydrocephalic comparison groups (spinabifida, prematurity, normals). Results revealed no significantgroup differences on measures of behavioral adjustment and avariety of family and sociodemographic variables. Children withhydrocephalus were more likely to meet criteria for behaviorproblems, obtained lower scores on measures of adaptive behavior,and perceived themselves as less physits treatment, gender,family variables and motor skills were related to the presenceof behavior problems.     

Negative Life Events,Psychosocial Resources,and Psychophysiological Symptoms in Adolescents

Negative life events have been linked to physical and emotional problems in adolescents, but there is little research on factors that may modify the relationship between these events and adolescent health. We investigated contributions of personal, family, and peer resources in protecting adolescents from psychophysiological symptoms associated with negative life events. Participants were 123 new patients at an adolescent outpatient medical clinic. Results provided evidence that perceived personal efficacy, peer support, and family cohesion have direct effects on the symptom levels of males and females. For males, the interaction between peer support and negative life events indicated that peer support was a buffer against stress. For females, high peer support did not buffer stress, and low peer support was associated with high symptom levels regardless of frequency of negative life events. Low family cohesion was associated with high symptom levels for both males and females in the absence of negative life events, indicating that lack of family cohesion may itself be a stressor.     

Possible X-linked anencephaly and spina bifida—report of a kindred

Causal heterogeneity of anencephaly and spina bifida has been demonstrated; in rare families the neural tube defect may be caused by a single gene. We report a family in which four cases of anencephaly or spina bifida may represent X-linked inheritance.     

Perceived Problem-Solving Ability, Stress, and Coping in Mothers of Children with physical disabilities: Potential cognitive influences on adjustment

Examined the contribution of perceived problem-solving ability to the adjustment of mothers of children with a physical disability, in conjunction with appraised disability-related stress and approach and avoidance coping, as a further evaluation of Wallander and Varni's Disability-Stress-Coping model emphasizing cognitive processes. One hundred sixteen mothers of children, ages 2 to 20, with spina bifida or cerebral palsy completed measures of relevant constructs. Results show that the mother's appraisal of disability-related stress is strongly associated with her reported maladjustment. However, perceptions of competence in problem solving are associated with better overall adjustment. A portion of this relation appears mediated by coping styLe, as confidence in one's problem-solving ability increases so does the likelihood of selecting more adaptive coping strategies when faced with disability-related stress. Overall, consideration of perceived problem-solving ability appears to make a valuable contribution to the Disability-Stress-Coping model and to current understanding of the experience of coping with raising a child with a disability. Perceived problem-solving ability can also be linked to clinical intervention, as discussed.     

Spinal dysraphia as an autosomal dominant defect in four families

Four families were selected randomly on the basis of the occurrence of spina bifida cystica and/or spina bifida occulta in one or more family members. Sixty-three relatives were studied clinically and roentgenologically; their roentgenograms were evaluated blindly. Twenty-eight were clinically and roentgenologically normal; 35 were diagnosed as having spina bifida occulta (SBO), spina bifida cystica (SBC), vertebral anomalies, and/or external defects usually interpreted as evidence for SBO. Excluding one proband we found the frequency of SBO to be 19/51 (37%) and the frequency of all types of spinal/vertebral defects (excluding five probands) to be 30/58 (52%). The distribution of these defects in the four families was analyzed using likelihood methods corrected for random ascertainment. The log likelihood values for sporadic, recessive, and dominant models were ?26.69, ?20.95, and ?18.90, respectively, indicating a higher likelihood of autosomal dominant inheritance than sporadic occurrence or recessive inheritance. The penetrance probability in this dominant model, estimated by maximum likelihood, is 0.749 ± 0.100. Further examination of these data suggests that SBO and SBC represent different expressions of the same dominant gene in these kindreds.     

Extracorporeal membrane oxygenation in spina bifida and (H1N1)-induced acute respiratory distress syndrome

Acute respiratory distress syndrome (ARDS) is characterized as an acute hypoxemic and/or hypercapnic respiratory failure seen in critically ill patients and is still, although decreased over the past few years, associated with high mortality. Furthermore, ARDS may be a life-threatening complication of H1N1 pneumonia. We report on a 45-year-old spina bifida patient with confirmed H1N1 influenza virus infection causing acute respiratory failure, who was successfully weaned from 42-day veno-venous extracorporeal membrane oxygenation (vv-ECMO) treatment with an excellent outcome. Due to the physical constitution of spina bifida patients, we experienced challenges concerning cannula positioning and mechanical ventilation settings during weaning.     

Congenital absence of gluteal muscles Report of two sibs

A family is described with the following features: 1) Two propositi, a male and a female, with congenital absence of gluteal muscles and with spina bifida occulta. 2) Both parents and two apparently normal siblings with sacral spina bifida occulta. 3) Two siblings of the propositi who died soon after birth, one with anencephaly and the other with a probable spina bifida.
Two alternative hypotheses for the etiology of these malformations are suggested: first, the muscular defect could be caused by an autosomal recessive gene independent of the open neural-tube defects; second, both types of malformations could be due to the same autosomal recessive gene. Then compensatory muscular changes which allow the propositi to walk are discussed.     

Molecular genetic analysis of the gene encoding the trifunctional enzyme MTHFD (methylenetetrahydrofolate-dehydrogenase, methenyltetrahydrofolate-cyclohydrolase, formyltetrahydrofolate synthetase) in patients with neural tube defects

It is now well recognized that periconceptional folic acid or folic acid containing multivitamin supplementation reduces the risk of neural tube defects (NTDs). Recently we were able to show that homozygosity for a thermolabile variant of the enzyme methylenetetrahydrofolate reductase is associated with an increased risk for spina bifida in patients recruited from the Dutch population. However, this genetic risk factor could not account for all folic acid preventable NTDs. In an attempt to identify additional folate related enzymes that contribute to NTD etiology we now studied the methylenetetrahydrofolate dehydrogenase gene on chromosome 14q24 which encodes a single protein with three catalytic properties important in the folate metabolism. The cDNA sequence of 38 familial and 79 sporadic patients was screened for the presence of mutations by single strand conformation polymorphism (SSCP) analysis followed by sequencing. Two amino acid substitutions were identified. The first one (R293H) was detected in a patient with familial spina bifida and not in 300 control individuals. The mutation was inherited from the unaffected maternal grandmother and was also present in two younger brothers of the index patient, one of them displaying spina bifida occulta and the other being unaffected. The second change turned out to be an amino acid polymorphism (R653Q) that was present in both patients and controls with similar frequencies. Our results so far provide no evidence for a major role of the methylenetetrahydrofolate-dehydrogenase (MTHFD) gene in NTD etiology. However, the identification of a mutation in one family suggests that this gene can act as a risk factor for human NTD.     

Congenital vertebral anomalies: aetiology and relationship to spina bifida cystica.

A family survey of 337 patients with congenital vertebral anomalies has been carried out from the Scoliosis Clinics of Edinburgh and the Royal National Orthopaedic Hospital, London. From genetic and epidemiological evidence it is clear that multiple vertebral anomalies (without apparent spina bifida) are aetiologically related to anencephaly and spina bifida cystics, carrying a 5-10% risk to subsequent sibs for any one of these defects. The implications for prenatal diagnosis are discussed. Solitary hemivertebrae and localized anterior defects of the vertebral bodies causing kyphoscoliosis are sporadic (non-familial) in nature, carrying no risk to subsequent sibs.     

Latex allergy in spina bifida patients – prevention by primary prophylaxis

Background The effect of latex prophylaxis has not been investigated in spina bifida children, a high-risk group for latex allergy. As repeated operations have been identified as a major cause of latex sensitization, we wanted to find out whether primary latex prophylaxis during surgery could prevent latex allergy in children with spina bifida.
Methods In December 1995, we established latex-free surgery and anesthesia for all patients with spina bifida regardless of their sensitization to latex. Twelve children born after that date (mean age 1.2 years, mean ntmiber of operations 3.3, range 1 -7) were tested for specific IgE against latex until December 1997 (ImmunoCap, Pharmacia, Uppsala, Sweden) and compared with eight children born before December 1995 (mean age 1.3 years, mean number of operations 3.6, range 1–8), in whom a test for latex IgE had been done before the age of 2 years.
Results Before we established primary prophylaxis, three of seven children with spina bifida (38%) were sensitized to latex until the age of 2 years. After the establishment of a latex-free operating theater for spina bifida patients, none of the 12 patients were sensitized to latex despite up to seven operations in each child.
Conclusions Primary latex prophylaxis during surgery can prevent latex sensitization in young spina bifida patients.     

Depressive Symptoms and Self-Concept in Young People with Spina Bifida

Examined self-reported depressive symptoms in 72 young peoplewith spina bifida, ages 9 to 18:11, and matched able-bodiedcomparison subjects, using the Dimensions of Depression Profilefor Children and Adolescents(Harter&Nowakowski, 1987). Independentvariables included gender, self-perceptions (including physicalappearance), and perceived social support. Young people withspina bifida were at greater risk of depressive mood, low self-worth,and suicidal ideation. Girls, independent of disability, wereat greater risk of depressive mood, low self-worth, and self-blame.Multiple regression analyses suggest that global self-worthserves as a mediating variable for the effect of physical appearanceself-concept on depressed mood (particularly in young peoplewith spinabifida), and that perceived parental social supporthas a direct effect on depressed mood (particularly in girls).     

Genetic variation in biotransformation enzymes,air pollution exposures,and risk of spina bifida

Spina bifida is a birth defect characterized by incomplete closure of the embryonic neural tube. Genetic factors as well as environmental factors have been observed to influence risks for spina bifida. Few studies have investigated possible gene‐environment interactions that could contribute to spina bifida risk. The aim of this study is to examine the interaction between gene variants in biotransformation enzyme pathways and ambient air pollution exposures and risk of spina bifida. We evaluated the role of air pollution exposure during pregnancy and gene variants of biotransformation enzymes from bloodspots and buccal cells in a California population‐based case‐control (86 cases of spina bifida and 208 non‐malformed controls) study. We considered race/ethnicity and folic acid vitamin use as potential effect modifiers and adjusted for those factors and smoking. We observed gene‐environment interactions between each of the five pollutants and several gene variants: NO (ABCC2), NO₂ (ABCC2, SLC01B1), PM₁₀ (ABCC2, CYP1A1, CYP2B6, CYP2C19, CYP2D6, NAT2, SLC01B1, SLC01B3), PM_2.5 (CYP1A1 and CYP1A2). These analyses show positive interactions between air pollution exposure during early pregnancy and gene variants associated with metabolizing enzymes. These exploratory results suggest that some individuals based on their genetic background may be more susceptible to the adverse effects of pollution.