Neuropsychological Functioning in Children With Spina Bifida and/or Hydrocephalus

Reviewed research on neuropsychological functioning (IQ verbal, visuospatial, tactile, motor, executive, and academic abilities) in children with spina bifida and/or hydrocephalus (SB/HC). These children usually have average to low-average intelligence but are prone to visuomotor deficits and delayed school progress, especially in arithmetic. Complications of SB/HC, including ventriculitis and seizures, tend to lower IQ scores and achievement in individuals.     

Math and Numeracy in Young Adults With Spina Bifida and Hydrocephalus

The developmental stability of poor math skill was studied in 31 young adults with spina bifida and hydrocephalus (SBH), a neurodevelopmental disorder involving malformations of the brain and spinal cord. Longitudinally, individuals with poor math problem solving as children grew into adults with poor problem solving and limited functional numeracy. As a group, young adults with SBH had poor computation accuracy, computation speed, problem solving, and functional numeracy. Computation accuracy was related to a supporting cognitive system (working memory for numbers), and functional numeracy was related to one medical history variable (number of lifetime shunt revisions). Adult functional numeracy, but not functional literacy, was predictive of higher levels of social, personal, and community independence.     

Motor Sequence Learning in Children With Spina Bifida

Cognitive and motor problems are common in children with spina bifida (SB), particularly in those children with cerebral malformations (SBM). Little is known about how these conditions affect motor learning. This study examines motor sequence learning in children with SB, SBM, and healthy controls. Assessment consisted of neuropsychological tests, a simple drawing task, and a spatial motor sequence learning task. Implicit motor learning was unaffected in children with SB(M), and their sequence learning ability was also similar to that of controls. However, both groups (SB and SBM) showed impaired motor performance. The role of cerebellar malformation with SB(M) is discussed.     

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.     

Spina Bifida and Anencephalus in Greater London

In order to make comparisons with the findings in a high frequency area, South Wales, with those in a low frequency area, south-east England, a birth frequency and family study was made of all births with neural tube malformations (spina bifida cystica, encephalocele, anencephaly, and iniencephaly) in 32 of the 33 London Boroughs over a 3-year period from 1 April 1965 to 31 March 1968. The births were ascertained through local authority registers, stillbirth and infant death certificates, and hospital records. The frequencies found were 1·54 for spina bifida (including encephalocele) and 1·41 for anencephaly (including iniencephaly). This was less than four tenths of the South Wales frequency. Evidence of an excess of winter births was found for both types of malformation, with a peak for conceptions in February, March, and April.     

Spina Bifida Children and Their Parents: A Population Prone to Family Dysfunction?

Spina bifida children of normal intelligence and their parentswere compared with a carefully matched control group of nondisabledchildren and their parents in a hierarchically oriented assessmentof individual, marital, and family functioning. Contrary topopular hypotheses that families with a handicapped child areespecially vulnerable to stress and psychological problems,results across all measures revealed no differences betweenthe two groups. Further, no differences were found between mothersand fathers on the various measures. These results support theview that nonretarded spina bifida children and their parentshave no special psychological characteristics that distinguishthem from nonhandicapped children and their parents. The findingsalso underscore the strengths and coping skills of handicappedchildren and their families. The tendency of researchers andclinicians to focus on the deviant aspects of these populationsmay obscure the fact that many may be adapting successfully.     

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).     

Rare LRP6 Variants Identified in Spina Bifida Patients

Several single‐nucleotide variants (SNVs) in low‐density lipoprotein receptor‐related protein 6 (Lrp6) cause neural tube defects (NTDs) in mice. We therefore examined LRP6 in 192 unrelated infants from California with the NTD, spina bifida, and found four heterozygous missense SNVs, three of which were predicted to be deleterious, among NTD cases and not in 190 ethnically matched nonmalformed controls. Parents and siblings could not be tested because of the study design. Like Crooked tail and Ringleschwanz mouse variants, the p.Tyr544Cys Lrp6 protein failed to bind the chaperone protein mesoderm development and impaired Lrp6 subcellular localization to the plasma membrane of MDCK II cells. Only the p.Tyr544Cys Lrp6 variant downregulated canonical Wnt signaling in a TopFlash luciferase reporter in vitro assay. In contrast, three Lrp6 mutants (p.Ala3Val, p.Tyr544Cys, and p.Arg1574Leu) increased noncanonical Wnt/planar cell polarity (PCP) signaling in an Ap1‐luciferase assay. Thus, LRP6 variants outside of YWTD repeats could potentially predispose embryos to NTDs, whereas Lrp6 modulation of Wnt/PCP signaling would be more essential than its canonical pathway role in neural tube closure.     

PDGFRα的高表达在人脊柱裂胚胎中的研究

目的 探究血小板源性生长因子受体α(PDGFRα)在人脊柱裂胚胎中的表达情况.方法 应用半定量逆转录聚合酶链式反应(RT-PCR)检测PDGFRα基因在人脊柱裂胚胎中的表达,以GAP-DH作为内参照,并同时检测PDGFRα的上游调控因子PAX1的表达,免疫组织化学法检测PDGFRα蛋白在人脊柱裂胚胎中的表达.应用统计学软件(ID-advanced)分析图像结果.结果 人脊柱裂胚胎中的PDGFRα基因及蛋白的表达高于正常对照组(P<0.01).结论 PDGFRα的高表达在人脊柱裂发病中起重要作用.     

Behavioral Physical Therapy and Spina Bifida: A Case Study

Behavioral physical therapy is a relatively new subspecialityfield involving the concurrent use of physical therapy and behavioraltechnology/assessment practices. The present study examinedthe relative efficacy of combining behavioral technology andtraditional physical therapy to facilitate an 8-year-old spinabifida child's fine and gross motor incoordination. A multiplebaseline across outcome measures design was used to evaluatetreatment efficacy over a 1-year period. The child's fine andgross motor incoordination improved the most under the combinedtreatment protocol and remained or showed further gains duringa 6-month follow-up period. Results were discussed with an emphasison factors contributing to the program's success and the desirabilityof assessing effects using single-subject methodology.     

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.     

HLA Gene and Haplotype Frequencies in Spina Bifida. Population and Family Studies

The search for HLA association in spina bifida is particularly interesting since this condition can be associated with the effects of the T locus in mice. Gene and haplotype frequencies in 32 unrelated patients suffering from spina bifida were studied. Gene frequency of HLA—B5 and haplotype frequency of A2, B5 were increased without reaching signification levels. Fourteen families were examined clinically and radiologically. A high frequency of spina bifida occulta and other vertebral abnormalities was found without evidence of linkage with HLA haplotypes.     

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.     

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.     

HLA, Pi, Gm and Km Phenotypes in a Spina Bifida Population with Myelo-Meningocele

HLA, Pi, Gm and Km phenotypes were determined in 53 cases of spina bifida with myelomeningocele. Family studies were possible in 42 cases. An increase in the frequency of HLA-B5 antigen was found. Some phenotype frequencies were also increased without reaching significant levels.     

Biomechanical Comparison of 3 Ankle Braces With and Without Free Rotation in the Sagittal Plane

Context:

Various designs of braces including hinged and nonhinged models are used to provide external support of the ankle. Hinged ankle braces supposedly allow almost free dorsiflexion and plantar flexion of the foot in the sagittal plane. It is unclear, however, whether this additional degree of freedom affects the stabilizing effect of the brace in the other planes of motion.

Objective:

To investigate the dynamic and passive stabilizing effects of 3 ankle braces, 2 hinged models that provide free plantar flexion–dorsiflexion in the sagittal plane and 1 ankle brace without a hinge.

Design:

Crossover study.

Setting:

University Movement Analysis Laboratory.

Patients or Other Participants:

Seventeen healthy volunteers (5 women, 12 men; age = 25.4 ± 4.8 years; height = 180.3 ± 6.5 cm; body mass = 75.5 ± 10.4 kg).

Intervention(s):

We dynamically induced foot inversion on a tilting platform and passively induced foot movements in 6 directions via a custom-built apparatus in 3 brace conditions and a control condition (no brace).

Main Outcome Measure(s):

Maximum inversion was determined dynamically using an in-shoe electrogoniometer. Passively induced maximal joint angles were measured using a torque and angle sensor. We analyzed differences among the 4 ankle-brace conditions (3 braces, 1 control) for each of the dependent variables with Friedman and post hoc tests (P < .05).

Results:

Each ankle brace restricted dynamic foot-inversion movements on the tilting platform as compared with the control condition, whereas only the 2 hinged ankle braces differed from each other, with greater movement restriction caused by the Ankle X model. Passive foot inversion was reduced with all ankle braces. Passive plantar flexion was greater in the hinged models as compared with the nonhinged brace.

Conclusions:

All ankle braces showed stabilizing effects against dynamic and passive foot inversion. Differences between the hinged braces and the nonhinged brace did not appear to be clinically relevant.Key Words: ankle–foot complex, inversion, joint motion, ankle stabilization

Key Points

• Both the hinged and nonhinged braces appeared to sufficiently restrict dynamically and passively induced foot inversion.
• Other than the existence of a hinge, factors related to brace design, material, or application seemed to be responsible for differences in movement restriction.
• The Ankle X brace provided the greatest amount of restriction against dynamic inversion.

With a prevalence of 20%, ankle sprains are the most frequent injuries in athletes and often happen during running and jumping activities,¹ most often during direct contact with an opponent.² Taping and ankle braces are the most advocated interventions to prevent ankle injuries.^1,3–8 Braces differ in design, material, and movement restriction of the ankle-foot joint–complex (eg, semirigid and lace-up braces)^9–11; the goals are to provide sufficient protection but also sufficient flexibility of the ankle during sports and activities of daily living. Consequently, the stabilizing effects of braces need to be evaluated.¹² Semirigid braces use a stirrup design consisting of a thermoplastic material¹³ and are recommended for dynamic conditions, eg, sports, in which the primary goal is to restrict foot inversion but not plantar flexion and dorsiflexion.¹⁰ Therefore, among the semirigid brace models, hinged braces have been designed to allow free rotation in the sagittal plane for almost the entire range of dorsiflexion and plantar flexion of the ankle. However, soft and semirigid braces that allow more plantar flexion were associated with greater inversion velocity on a tilting platform as well as greater amplitude of passively induced inversion.¹⁰ Furthermore, wearing an ankle brace with a subtalar locking system was notably effective in limiting foot inversion during passive as well as dynamic inversion compared with a functional hinged brace and a lace-up brace.¹⁴ Therefore, less-restricted plantar flexion may imply less stabilization in associated foot displacement because it is related to some degree to hindfoot inversion.¹⁵Rapidly induced inversion movements are usually evaluated with tilting platforms or trapdoor mechanisms and may provide information about the stabilizing effect of ankle braces under dynamic loading conditions that simulate inversion trauma.^10,16–18 Passive testing usually involves the application of an external force or moment to the ankle-foot joint–complex so that the stabilizing effect of ankle bracing in other movement directions (plantar flexion, dorsiflexion, eversion, external and internal rotation) can be assessed. These directions are also considered relevant in the evaluation of ankle braces.^10,19 This method does not represent the actual injury mechanism because it lacks the dynamic load application of a real-life trauma situation.¹⁰ However, a high correlation (r = 0.78; P = .0031) was reported¹⁰ between dynamically and passively induced inversion, thus confirming that both methods provide information about various aspects of the stabilizing effects of ankle braces.The aim of our study was to compare the stabilizing effects of 3 ankle braces: 2 hinged models with free rotation in the sagittal plane (Body Armor Embrace [DARCO (Europe) GmbH, Raisting, Germany] and Ankle X [McDavid, Woodridge, IL]) and 1 model without free rotation in the sagittal plane (Aircast AirGo [DJO LLC, Vista, CA]), during a rapidly induced foot-inversion movement on a tilting platform, as well as during passively induced movements in 3 anatomical planes (6 directions) of the ankle-foot joint–complex. We hypothesized that all ankle braces would restrict ankle movements during rapidly induced inversion and passively induced movements of the ankle compared with the unbraced condition. Furthermore, we hypothesized that the hinged braces would provide less stabilization during a rapidly induced inversion and result in larger joint angles during passively induced movements of the ankle and foot compared with the unhinged brace.     

A Case of Meningomyelocele in a Kindred with Multiple Cases of Spondylolisthesis and Spina Bifida Occulta

A child with meningomyelocele, and other spinal anomalies, was born to a woman with three sibs who had spondylolisthesis and whose father and two of his sibs had a history of back problems. The suggestion is made that these anomalies represent a pattern of autosomal dominant inheritance with variable expressivity.     

Isokinetic Scapular Muscle Performance in Overhead Athletes With and Without Impingement Symptoms

Context: Overhead activities such as throwing, tennis, or volleyball place athletes at considerable risk for overuse injuries. A relationship between scapulothoracic muscle imbalance and shoulder pain has been suggested.Objective: To compare the isokinetic muscle performance of the scapular muscles between overhead athletes with impingement symptoms and uninjured overhead athletes and to identify strength deficits in the patient population.Design: A repeated-measures analysis of variance with 1 within-subjects factor (side) and 1 between-subjects factor (group) was used to compare strength values and agonist:antagonist ratios across sides and across groups.Setting: University laboratory.Patients or Other Participants: Thirty overhead athletes with chronic shoulder impingement symptoms and 30 overhead athletes without a history of shoulder pain.Intervention(s): A linear protraction-retraction movement in the scapular plane at 2 velocities (12.2 cm/s and 36.6 cm/s).Main Outcome Measure(s): Isokinetic strength values and protraction:retraction ratios for both velocities.Results: Overhead athletes with impingement symptoms showed decreased force output:body weight at both velocities in the protractor muscles on the injured side compared with the uninjured side (-13.7% at slow velocity, -15.5% at high velocity) and compared with the control group at high velocity (-20.7%). On both sides, the patient group had significantly lower protraction:retraction ratios than the control group, measured at slow velocity (nondominant = -11%, dominant = -13.7%).Conclusions: Overhead athletes with impingement symptoms demonstrated strength deficits and muscular imbalance in the scapular muscles compared with uninjured athletes.