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.     

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.     

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.     

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.     

Relationships among life stress, perceived family environment, and the psychological distress of spina bifida adolescents

Fifty-three teen-agers with spina bifida participated in a mail survey and completed measures of recent life events, perceived family environment, and psychological distress. Low levels of perceived family conflict and control served as life stress buffers in the prediction of distress, whereas a high level of perceived independence served as a life stress exacerbator. These interaction effects differ from those obtained for a normal sample of adolescents in the lone previous study (Burt, Cohen, & Bjorck, 1988) that reported comparable analyses. The results suggest that the process by which family environments moderate stress adjustment differs for able-bodied vs. spina bifida adolescents.     

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.     

Brief report: testing the factorial invariance of the CBCL Somatic Complaints scale as a measure of internalizing symptoms for children with and without chronic illness

OBJECTIVE: To examine the factorial invariance of the Somatic Complaints subscale of the Child Behavior Checklist as a measure of Internalizing Behavior Problems across a sample of children with and without spina bifida. METHODS: Multisample confirmatory factor analysis was used to compare mother and father report on the Somatic Complaints subscale across a sample of children with spina bifida and a matched comparison sample of able-bodied children ages 8 through 11 years (N = 68 for mother report in each group; N = 54 for father report in the spina bifida group and 53 for the able-bodied group). RESULTS: Although there were no significant between-group differences in the magnitude of factor loadings, significantly more variance in scores on the Somatic Complaints scale was unrelated to Internalizing Behavior Problems for the spina bifida group, compared to the able-bodied group. There were no between-group differences when father data were analyzed, but the latent variable of Internalizing Behavior Problems explained little variance in the Somatic Complaints scale for either group. CONCLUSIONS: Maternal report of Somatic Complaints on the CBCL does not appear to measure Internalizing Behavior Problems in the same manner across groups of children with and without spina bifida. This suggests that the Somatic Complaints subscale should be interpreted with caution when measuring Internalizing Behavior Problems within this population.     

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.     

Mental Rotation Performance in Children With Hydrocephalus Both With and Without Spina Bifida

The mental rotation ability in children with hydrocephalus and those with both hydrocephalus and spina bifida in comparison to healthy controls was investigated in this study. All groups performed a chronometric mental rotation test. Compared to children with hydrocephalus, children with both spina bifida and hydrocephalus showed an impaired mental rotation performance, demonstrated by slower reaction times. No significant performance difference was found between children with spina bifida and healthy controls. Error rates were comparable between groups indicating that the impaired mental rotation performance in children with both spina bifida and hydrocephalus is primarily due to motor impairment.     

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.     

Variation and expression of dihydrofolate reductase (DHFR) in relation to spina bifida

The dihydrofolate reductase (DHFR) enzyme is important for folate availability, folate turnover and DNA synthesis. The 19-bp deletion in intron-1 of DHFR has been associated with the risk of having spina bifida affected offspring, supposedly by changing DHFR gene expression. A 9-bp repeat in exon 1 of the mutS homolog 3 (MSH3) gene was recently demonstrated to be also located in the 5'UTR of DHFR and may possibly affect DHFR gene expression as well. We examined the association between these DHFR variants and spina bifida risk and investigated their effect on DHFR expression. Our study population, consisting of 121 mothers of a spina bifida affected child, 109 spina bifida patients, 292 control women and 234 pediatric controls was screened for the DHFR 19-bp deletion and the DHFR 9-bp repeat. DHFR gene expression was measured in 66 spina bifida patients, using real-time PCR analysis. In this study population, the DHFR 19-bp del/del genotype was not associated with spina bifida risk in mothers and children (OR: 0.8; 95%CI: 0.4-1.5 and OR: 1.2; 95%CI: 0.6-2.2, respectively) and both the WT/del and the del/del genotype did not affect DHFR expression relative to the WT/WT genotype (relative expression=0.89, p=0.46 and relative expression=1.26, p=0.24, respectively). The DHFR 9-bp repeat was not associated with spina bifida risk in mothers and children. DHFR expression of the 6/6 allele was 73% increased compared to the 3/3 allele, although not significantly (relative expression=1.73, p=0.09). We did not find evidence for an effect of the DHFR 19-bp deletion or 9-bp repeat on spina bifida risk in mothers and children. An effect of the 6/6 repeat genotype on DHFR expression cannot be ruled out.     

Condition-related knowledge among children with spina bifida: longitudinal changes and predictors

OBJECTIVE: To examine changes in three domains of condition-related knowledge among youth with spina bifida and to examine the utility of youth cognitive ability level and condition severity as predictors of knowledge change. METHODS: Seventy preadolescents with spina bifida completed a 12-item questionnaire assessing knowledge of spina bifida at three time points during middle childhood and early adolescence. Specific domains of knowledge assessed included (a) etiology of spina bifida, (b) functional status, and (c) shunt functioning (completed by participants with shunted hydrocephalus only). RESULTS: Findings revealed gains in accuracy of knowledge on 6 of 12 items; however, neither children's cognitive ability level nor condition severity predicted changes in knowledge over time. Most condition domains were characterized by low-to-moderate levels of knowledge across time. CONCLUSIONS: Although significant gains were evident in children's condition-related knowledge, at Time 3, many participants still failed to understand basic information about the etiology of their condition or major functional issues associated with spina bifida. Additional education about catheterization and shunt malfunction are two domains that may be of particular clinical significance.     

Physical status and psychosocial adjustment in children with spina bifida

Investigated the relationship between the physical status and psychosocial adjustment of chronically physically handicapped children. The status of 61 children with spina bifida regarding six specific disease or disability parameters was determined from medical charts. Their mothers completed the Child Behavior Checklist as a measure of the children's psychosocial adjustment. Children with spina bifida were reported to display on the average significantly more behavior and social competence problems than expected for children in general. However, children with differing degrees of physical problems and disability did not differ significantly in their psychosocial adjustment. The general lack of relationship between physical status and adjustment as it relates to a conceptual model guiding this research is discussed.     

Risk factors associated with neural tube defects

Spina bifida represents a broad category of neural tube defects (NTD) which affects approximately 1–4/1,000 live births. Since effective prenatal diagnostic testing for 90 % of NTD is available through measurement of alpha-fetoprotein (AFP) in amniotic fluid, ascertainment of high risk factors associated with the occurrence of NTD would be both desirable and important. At the present time, generally, the major indication for prenatal testing for NTD is the presence of a first-degree relative with some form of NTD. To date, few other factors have been utilized to identify a family as "at risk".
We have studied a group of 19 families of 10 female and 9 male index cases with NTD. The parents of each index case were interviewed and pedigrees were prepared on each family. Conditions screened for in these families included spina bifida and other NTD, pilonidal cysts, scoliosis, kyphosis and other vertebral disorders which were hypothesized to be possibly related to NTD. There were 58 first-, 171 second-, and 802 third-degree relatives screened in this study. This sample population was similarly characteristic with regard to sex, maternal age and birth order distributions as compared to previous populations of NTD described and was therefore considered to be representative. Our results indicate that: (1) pilonidal cysts are 6 times more frequent in the fathers and twice as frequent in the mothers of children with spina bifida than in the general population;
These preliminary studies suggest that several minor clinical conditions in parents may be important to consider as possible risk signs suggesting couples be considered for prenatal evaluation for the prevention of NTD.     

Projected number of children with isolated spina bifida or down syndrome in England and Wales by 2020

Children with major congenital anomalies often require lifelong access to health and social care services. Estimating future numbers of affected individuals can aid health and social care planning. This study aimed to estimate the number of children aged 0–15 years living with spina bifida or Down syndrome in England and Wales by 2020. Cases of spina bifida and Down syndrome born during 1998–2013 were identified from the Northern Congenital Abnormality Survey and the National Down Syndrome Cytogenetic Register, respectively. The number of infants born with spina bifida during 1998–2019 were estimated by applying the average prevalence rate in the North of England to actual and projected births in England and Wales. Poisson regression was performed to estimate the number of infants born with Down syndrome in England and Wales during 1998–2013 and 2004–2019. The numbers of children aged 0–15 living with spina bifida or Down syndrome in 2014 and in 2020 were then estimated by multiplying year- and age-specific survival estimates by the number of affected births. An estimated 956 children with isolated spina bifida, 623 children with spina bifida and hydrocephalus and 11,592 children with Down syndrome aged 0–15 years will be living in England and Wales by 2020, increases of 7.2%, 12.0% and 12.7% since 2014, respectively. Due to improvements in survival, an increase in population size and changes in maternal age distribution at delivery, we anticipate further increases in the number of children living with spina bifida or Down syndrome by 2020.     

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.     

Latex sensitization in children with spina bifida: follow-up comparative study after two years.

BACKGROUND: Previous findings suggest that sensitization to latex in children with spina bifida is a dynamic process. OBJECTIVE: To study if changes appear in the sensitization status after withdrawal of latex. METHODS: We studied a consecutive sample of 68 children with spina bifida, by means of latex skin prick tests and quantification of serum latex-specific IgE on two separate occasions two years apart. RESULTS: Forty-four (65%) were classified as nonsensitized, 6 (9%) showed indeterminate results, and 18 (26%) were sensitized to latex, six of whom had clinical reactions to latex. They were instructed to avoid latex. In a second evaluation, 2 years later, 38 (56%) were classified as nonsensitized, 3 (4%) as indeterminate, and 27 (40%) as sensitized to latex, 11 of whom had presented latex symptoms. This meant 22% of spina bifida children demonstrated progressive sensitization, in spite of having adopted a latex-free environment at our hospital. It illustrates the progressive character of latex sensitization in these patients. CONCLUSION: Latex avoidance measures both in the medical and home settings must be stressed. We recommend that children with spina bifida should be periodically evaluated regarding latex sensitization.     

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.     

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.     

Disorganization: The Forgotten Executive Dysfunction in High-Functioning Autism (HFA) Spectrum Disorders

We investigated the mental rotation ability of children with spina bifida, a malformation of the spinal cord due to a neural tube defect, and how it is influenced by a manual rotation training. In comparison to a healthy control group these children showed longer reaction times and a higher number of errors in a computer-based mental rotation test. Furthermore, a manual rotation training was applied. The spina bifida group benefited considerably from the manual rotation training. The training effect was not limited to stimuli learned in the training. While the children with spina bifida showed a lower speed of mental rotation than their healthy peers in the mental rotation pretest, the two groups did not differ in their mental rotation speed in the posttest.