Evaluation of psychometric properties of the segmental assessment of trunk control (SATCo) in children with spastic quadriplegic cerebral palsy.

BACKGROUND: Segmental Assessment of Trunk Control (SATCo) is a scientific evaluation measure used to assess trunk control in subjects with cerebral palsy (CP). AIMS: The present study aimed at assessing the psychometric properties of SATCo in children with spastic quadriplegic CP. METHODOLOGY: This was an observational study in which we validated a test instrument in 31 children (aged 1-5 years) with spastic quadriplegic CP. Children were assessed for trunk control by principal rater (R1) using SATCo. Each assessment was video recorded, scored retrospectively, and independently by principal rater (R2) and secondary rater (R3) for intra-rater and inter-rater reliability, respectively. Concurrent validity was assessed by comparing the SATCo scores with sitting component scores of Gross Motor Functional Measure -88. RESULTS: Intra-class correlation coefficient values for intra-rater and inter-rater reliability for various components of the scale ranged from 0.82 to 0.98. The concurrent validity was calculated for various components of the scale using the Pearson correlation coefficient and they ranged from 0.72 to 0.77. CONCLUSION/RECOMMENDATION: SATCo is a reliable and valid scale that can be used for examining trunk control in children with spastic quadriplegic CP aged 1-5 years.

Intrathecal baclofen pumps do not accelerate progression of scoliosis in quadriplegic spastic cerebral palsy.

PURPOSE: To compare scoliosis progression in quadriplegic spastic cerebral palsy with and without intrathecal baclofen (ITB) pumps. METHODS: A retrospective matched cohort study was conducted. Patients with quadriplegic spastic cerebral palsy, GMFCS level 5, treated with ITB pumps with follow-up >1 year were matched to comparable cases by age and baseline Cobb angle without ITB pumps. Annual and peak coronal curve progression, pelvic obliquity progression and need for spinal fusion were compared. RESULTS: ITB group: 25 patients (9 female), mean age at pump insertion 9.4 and Risser 0.9. Initial Cobb angle 25.6° and pelvic tilt 3.2°. Follow-up 4.3 (1.0-7.8) years. Cobb angle at follow-up 76.1° and pelvic tilt 18.9°. Non-ITB group: 25 patients (14 female), mean age at baseline 9.2 and Risser 1.0. Initial Cobb angle 29.7° and pelvic tilt 7.1°. Follow-up 3.5 (1.0-7.5) years. Cobb angle at follow-up 69.1° and pelvic tilt 21.0°. The two groups were statistically similar for baseline age, Cobb angle and Risser grade. Mean curve progression was 13.6°/year for the ITB group vs 12.6°/year for the non-ITB group (p = 0.39). Peak curve progression was similar between the groups. Pelvic tilt progression was comparable; ITB group 4.5°/year vs non-ITB 4.6°/year (p = 0.97). During follow-up 5 patients in the ITB group and 9 in the non-ITB group required spinal fusion surgery for curve progression (p = 0.35). CONCLUSIONS: Patients with quadriplegic spastic cerebral palsy with and without ITB pumps showed significant curve progression over time. ITB pumps do not appear to alter the natural history of curve progression in this population.

Effects of Pediatric Rehabilitation on Children With Spastic Quadriplegia Primary to Seizure Disorder and Global Developmental Delay: A Case Report.

The most severe form of spastic cerebral palsy (CP), which affects the arms and legs and often the face, is known as spastic quadriplegia. In addition to other developmental disabilities such as intellectual disability and seizures, it can cause difficulty in walking. Children with CP often have seizures as a result of brain injury, and spastic quadriplegic CP is typically associated with global developmental delay. For the purpose of addressing the unique motor and functional challenges associated with spastic quadriplegia, neurophysiotherapy is essential. This treatment includes neurodevelopmental techniques, posture and balance training, and activities aimed at improving gait. The purpose of this case study is to demonstrate how early and continuous physical therapy interventions can maximize a child's functional abilities and prevent further complications. In this instance, a five-year-old boy with a documented history of spastic quadriplegia, seizure disorder, and global developmental delay reported experiencing challenges with sitting, walking, and speech. He had three episodes of fever, which led to his hospital admission. The child's medical history included acute hemorrhagic encephalitis, mild hydroureteronephrosis on the left side, and persistent convulsions that affected only one side of the body. Bilateral thalamic altered signal intensities were observed in the brain's MRI, and multiple calcifications were detected in the periventricular cortex, thalamus, and basal ganglia on the brain's CT scan. To enhance the independence, strength, and coordination of voluntary movement in individuals with CP, a variety of techniques are used in addition to physical therapy, such as occupational therapy, speech therapy, aquatic therapy, constraint-induced movement therapy, functional electrical stimulation, orthotic devices, injections of botulinum toxin, and hippotherapy.

Cerebral palsy in children: A clinical practice review.

Cerebral palsy is a disorder characterized by abnormal tone, posture, and movement. In clinical practice, it is often useful to approach cerebral palsy based on the predominant motor system findings - spastic hemiplegia, spastic diplegia, spastic quadriplegia, extrapyramidal or dyskinetic, and ataxic. The prevalence of cerebral palsy is between 1.5 and 3 per 1,000 live births with higher percentage of cases in low to middle income countries and geographic regions. Pre-term birth and low birthweight are recognized as the most frequent risk factors for cerebral palsy; other risk factors include hypoxic-ischemic encephalopathy, maternal infections, and multiple gestation. In most cases of cerebral palsy, the initial injury to the brain occurs during early fetal brain development. Intracerebral hemorrhage and periventricular leukomalacia are the main pathologic findings found in preterm infants who develop spastic cerebral palsy. The diagnosis of cerebral palsy is primarily based on clinical findings. Early recognition of infants at risk for cerebral palsy as well as those with cerebral palsy is possible based on a combination of clinical history, use of standardized neuromotor assessment and findings on magnetic resonance imaging; however, in clinical practice, cerebral palsy is more reliably diagnosed by 2 years of age. Magnetic resonance imaging scan is indicated to delineate the extent of brain lesions and to identify congenital brain malformations. Genetic testing and tests for inborn errors of metabolism are indicated to identify specific disorders, especially treatable disorders. Because cerebral palsy is associated with multiple associated and secondary medical conditions, its management requires a sustained and consistent collaboration among multiple disciplines and specialties. With appropriate support, most children with cerebral palsy grow up to be adults with good functional abilities.

Management of Cerebrospinal Fluid Leak After Intrathecal Baclofen Pump Procedures in Adolescents With Cerebral Palsy: A Retrospective Study.

STUDY OBJECTIVE:  Epidural blood patches (EBPs) are frequently performed in children with cerebral palsy (CP) to manage post-dural puncture headache (PDPH) due to cerebrospinal fluid (CSF) leak after intrathecal baclofen pump (ITBP) placement or replacement procedures. The purpose of our study was to review the incidence and management of CSF leak following ITBP placement or replacement procedures in children with CP. The study was a retrospective review of 245 patients representing 310 surgical cases of baclofen pump insertion (n=141) or reinsertion (n=169) conducted at a 125-bed children's hospital with prominent specialty orthopedics surgical cases. MEASUREMENTS:  Demographic and clinical information was obtained from the anesthesia pain service database on all new ITBP placement and subsequent replacements over an eight-year period. MAIN RESULTS:  The overall incidence of CSF leak in our population was 16% (50 of 310) and 18% (25 of 141) with a new ITBP placement. Children with diplegia were associated with a threefold risk of developing CSF leak. Of patients who developed CSF leak (n=50), 68% (n=34) were successfully treated conservatively, while 32% (n=16) required EBPs. EBPs were successful in 87.5% (14 of 16) of patients at relieving PDPH on the first attempt.  Conclusions: CSF leak is a known problem after ITBP placement and replacement. Most patients were successfully treated with conservative management and EBPs were successful in patients failing conservative therapy. Diagnosing PDPH in non-verbal patients can be challenging.

Effect of intrathoracic oscillations on pulmonary functions in children with cerebral palsy.

Objectives: This study was aimed at investigating the effects of intrathoracic oscillations on pulmonary function in children with spastic quadriplegic cerebral palsy. Methods: This study comprised 24 boys and girls 6-8 years of age with spastic quadriplegic cerebral palsy. According to the modified Ashworth scale, the degree of spasticity was 2 to 2+. The children were able to sit independently and follow instructions. The children were randomly divided into a study group and control group. A spirometer was used to examine each child before and after 6 weeks. Children in the control group received traditional chest physiotherapy (postural drainage and percussion), whereas children in the study group underwent quake device training. For 6 weeks, both groups received four sessions per week. After treatment, the results were collected. Paired t-test and independent-samples t-test were applied to compare the means for each group. p-values <0.05 were considered significant. Results: The post-treatment results of forced expiratory volume at 1 s, peak expiratory flow, forced vital capacity, and the ratio of forced expiratory volume at 1 s to forced vital capacity demonstrated significant differences favoring the study group over the control group (p < 0.001, p < 0.001, p = 0.002, and p = 0.023, respectively). Conclusion: Intrathoracic oscillations may improve pulmonary function in children with quadriplegic cerebral palsy.

Huge vaginal stone: Case report and review of the literature.

Primary vaginal stones have been rarely reported; the reports that do exist are usually case reports. Because of their low incidence, they are often misdiagnosed. This case report and literature review of a primary vaginal stone presents an assessment of symptoms and common risk factors for vaginal stone formation. A 28-year-old woman with spastic quadriplegia who had been bedridden for most of her life presented to the emergency department for abdominal distension and fever. She had chronic constipation, recurrent urinary tract infections (UTIs), and vaginal discharge. Abdominopelvic computed tomography (CT) was performed and a large stone observed. The vaginal stone was completely removed through the vaginal stump after hysterectomy. Differential diagnoses of vesicovaginal fistula, urethrovaginal fistula, genital anomaly, and ectopic ureter were made by performing several tests using indigo-carmine dye. She recovered from surgery without any complications. There was no recurrence of vaginal stones after 3 months. A biochemical analysis reported that the vaginal stone was 100% struvite. Vaginal stones are caused by repeated infections in an environment in which urine collects gradually. Patients with recurrent UTIs who are bedridden should be able to prevent vaginal stones with periodic gynecological examinations for early diagnosis and management.

Novel Homozygous Missense Mutation in the ARG1 Gene in a Large Sudanese Family.

Background: Arginases catalyze the last step in the urea cycle. Hyperargininemia, a rare autosomal-recessive disorder of the urea cycle, presents after the first year of age with regression of milestones and evolves gradually into progressive spastic quadriplegia and cognitive dysfunction. Genetic studies reported various mutations in the ARG1 gene that resulted in hyperargininemia due to a complete or partial loss of arginase activity. Case Presentation: Five patients from an extended highly consanguineous Sudanese family presented with regression of the acquired milestones, spastic quadriplegia, and mental retardation. The disease onset ranged from 1 to 3 years of age. Two patients had epileptic seizures and one patient had stereotypic clapping. Genetic testing using whole-exome sequencing, done for the patients and a healthy parent, confirmed the presence of a homozygous novel missense variant in the ARG1 gene [GRCh37 (NM_001244438.1): exon 4: g.131902487T>A, c.458T>A, p.(Val153Glu)]. The variant was predicted pathogenic by five algorithms and affected a highly conserved amino acid located in the protein domain ureohydrolase, arginase subgroup. Sanger sequencing of 13 sampled family members revealed complete co-segregation between the variant and the disease distribution in the family in line with an autosomal-recessive mode of inheritance. Biochemical analysis confirmed hyperargininemia in five patients. Conclusion: This study reports the first Sudanese family with ARG1 mutation. The reported variant is a loss-of-function missense mutation. Its pathogenicity is strongly supported by the clinical phenotype, the computational functional impact prediction, the complete co-segregation with the disease, and the biochemical assessment.

Cerebral palsy in children: a clinical overview.

Cerebral palsy (CP) is a disorder characterized by abnormal tone, posture and movement and clinically classified based on the predominant motor syndrome-spastic hemiplegia, spastic diplegia, spastic quadriplegia, and extrapyramidal or dyskinetic. The incidence of CP is 2-3 per 1,000 live births. Prematurity and low birthweight are important risk factors for CP; however, multiple other factors have been associated with an increased risk for CP, including maternal infections, and multiple gestation. In most cases of CP the initial injury to the brain occurs during early fetal brain development; intracerebral hemorrhage and periventricular leukomalacia are the main pathologic findings found in preterm infants who develop CP. The diagnosis of CP is primarily based on clinical findings. Early diagnosis is possible based on a combination of clinical history, use of standardized neuromotor assessment and findings on magnetic resonance imaging (MRI); however, in most clinical settings CP is more reliably recognized by 2 years of age. MRI scan is indicated to delineate the extent of brain lesions and to identify congenital brain malformations. Genetic tests and tests for inborn errors of metabolism are indicated based on clinical findings to identify specific disorders. Because CP is associated with multiple associated and secondary medical conditions, its management requires a multidisciplinary team approach. Most children with CP grow up to be productive adults.

A severe female case of arthrogryposis multiplex congenita with brain atrophy, spastic quadriplegia and intellectual disability caused by ZC4H2 mutation.

Arthrogryposis multiplex congenita (AMC) is characterized by heterogeneous multiple congenital contractures appearing at birth. Mutations in X-linked zinc-finger gene ZC4H2 were recently identified in some families and individuals with variable forms of AMC associated with dysmorphic signs, intellectual disability and spastic paresis. We present a non-consanguineous Japanese female presenting AMC with severe intellectual disability and spastic quadriplegia who also had progressive brain atrophy. Microarray-based comparative genomic hybridization identified 395 kb microdeletions at Xq11.2 which only included ZC4H2 gene. Previous reports showed that affected females have lesser symptoms and slight abnormality on brain MRI compared to male due to X-inactivation. Our case, however, showed severe manifestation than as ever reported as well as progressive diffuse brain atrophy, which implicated contribution of other genetic or environmental factors or extremely skewed X inactivation.

Assessment of anthropometric indicators in children with cerebral palsy according to the type of motor dysfunction and reference standard.

AIM: The study aimed to demonstrate that the assessment of the anthropomorphic measurements of children with cerebral palsy (CP) varies according to the type of motor dysfunction and references standard used for comparison. METHOD: In a cross-sectional design, 108 children 2 to 16 years were classified according to the type of motor dysfunction by gender and age group. Weight, mid-upper-arm-circumference (MUAC), and alternative measures for height were performed. Height/age and weight/age indexes and BMI were evaluated with percentiles and/or Z-scores with reference to a number of previously published references of growth, including those of the World Health Organization (WHO). RESULTS: Fifty-three (49.1%) were females and 55 (50.9%) males. Spastic type was predominant (73.1%) and 26.9% were other types of dysfunction. Most of the children were located on level IV (14.6%) and level V (73.1%) of the Gross Motor Function Classification System (GMFCS). Significant differences were found, suggesting that weight (p = 0.002), height (p = 0.001), and MUAC (p = 0.05) are higher in the spastic group than in other groups. CONCLUSIONS: The anthropometric indicators were significantly higher in the spastic group than in other groups. Upper-arm length (UAL) seemed less appropriate than knee height (KH) and lower-leg length (LLL) for measuring height. The WHO reference standard was not useful to evaluate the majority of anthropometric indexes in children with CP, other references as the growth charts of Day and Brooks have been more suitable.

Clinical Spectrum, Comorbidities, and Risk Factor Profile of Cerebral Palsy Children: A Prospective Study.

AIM AND OBJECTIVE: Cerebral palsy (CP) is the most common motor disability in childhood. This study aimed to describe clinical spectrum, comorbidities, and risk factors associated with CP children. MATERIALS AND METHODS: This hospital-based observational study was conducted in tertiary level hospital in Jaipur including 180 CP children aged 1-12 years, attending the Paediatric Neurology Outdoor and Child Development Centre. A detailed history of antenatal, natal, and postnatal events taken and thorough examination was performed to stratify children in proper topographical and physiological classification. RESULTS: Mothers of 47.7% CP children were primigravida and 17.7% mothers had anemia during pregnancy. Among natal factors, asphyxia contributed to maximum cases (52.2%). Seizure in postnatal life was the second most common risk factor for CP after asphyxia. Spastic CP (84.4%) was the most common physiological type, and quadriplegia (56.6%) was the most common topographical type observed in this study. Intellectual disability (47.7%) followed by epilepsy (41.6%) was the most common comorbidity. CONCLUSION: Even with the advancement of health-care system, asphyxia is the most common risk factor, and spastic quadriplegia is the most common type of CP. There is still a need of improving the health facilities to overcome this costly and common neuromotor disability. Widespread knowledge of common risk factors that can predispose to CP can prevent the CP development to some extent and knowledge of clinical spectrum, and comorbidities can improve their targeted treatment which can improve their growth and social participation.

Flexion Deformities of the Wrist and Fingers in Spastic Cerebral Palsy: A Protocol of Management.

BACKGROUND: Literature is confusing regarding grading and treatment of flexion deformities of wrist and fingers in spastic cerebral palsy (CP). The most established classification is that described by Zancolli; unfortunately, it has its shortcomings which we experienced in the beginning of our approach to manage this rather difficult deformity. We thus modified Zancolli's classification and developed a classification system and treatment protocol. MATERIALS AND METHODS: Thirty patients with spastic CP were operated upon due to flexion deformity of the wrist and fingers and were included in this study. Age ranged from 4 to 14 years, average 7 years. There were twenty boys and ten girls. RESULTS: The average followup was 18 months (range 9 months - 3 years). The power of wrist dorsiflexion, the "House's classification of upper extremity functional use" and the clinical assessment of hand function were used for evaluation; they improved in all patients and this improvement was statistically significant. In all patients, cosmetic appearance improved without any residual flexion deformity. CONCLUSION: This study introduces a new grading system for flexion deformity of wrist and fingers in spastic CP that correlates with severity of the condition and allows a treatment protocol to be established.

Correlations between risk factors and functional evolution in patients with spastic quadriplegia.

Cerebral palsy is the most common cause of developing neuro-motor disability in children, in many cases, the triggering cause remaining unknown. Quadriplegia is the most severe spastic cerebral palsy, characterized by severe mental retardation and bi-pyramidal syndrome. The purpose of this paper was to demonstrate the importance of knowing the risk factors and the psychosomatic ones, determining to what extent they influence the functional evolution in patients diagnosed with spastic quadriplegia. 23 children diagnosed with spastic quadriplegia were included in the study, being aged between 1 year and half and 12 years. Patients were assessed at baseline (T1), at one year (T2) and after two years at the end of the study (T3). Patients received a comprehensive rehabilitation program for the motor and sensory deficits throughout the study. Initially, a comprehensive evaluation (etiopathogenic, clinical and functional) that started from a thorough medical history of children (the older ones), was conducted but chose parents to identify the risk factors, and a complete physical exam. At each assessment, joint and muscle balance was conducted. To assess functionality, the gross motor function classification systems (GMFCS) and manual ability (MACS) were used. Many risk factors that were classified according to the timeline in prenatal factors, perinatal and postnatal, were identified from a thorough history. A direct correlation was noticed between the decrease of coarse functionality and manual ability, both initially and in dynamic and low APGAR scores, low gestational age, low birth weight and a higher body mass index of the mother. A direct link was observed between the gross motor function and the manual ability. A significant improvement in the MACS score was noticed in patients with a better GMFCS score.

Surgical correction of scoliosis in children with spastic quadriplegia: benefits, adverse effects, and patient selection.

STUDY RATIONALE: Cerebral palsy (CP) is a group of nonprogressive syndromes of posture and motor impairment associated with lesions of the immature brain. Spastic quadriplegia is the most severe form with a high incidence of scoliosis, back pain, respiratory compromise, pelvic obliquity, and poor sitting balance. Surgical stabilization of the spine is an effective technique for correcting deformity and restoring sitting posture. The decision to operate in this group of patients is challenging. OBJECTIVES: The aim of this study is to determine the benefits of surgical correction of scoliosis in children with spastic quadriplegia, the adverse effects of this treatment, and what preoperative factors affect patient outcome after surgical correction. MATERIALS AND METHODS: A systematic review was undertaken to identify studies describing benefits and adverse effects of surgery in spastic quadriplegia. Factors affecting patient outcome following surgical correction of scoliosis were assessed. Studies involving adults and nonspastic quadriplegia were excluded. RESULTS: A total of 10 case series and 1 prospective and 3 retrospective cohort studies met inclusion criteria. There was significant variation in the overall risk of complications (range, 10.9-70.9%), mortality (range, 2.8-19%), respiratory/pulmonary complications (range, 26.9-57.1%), and infection (range, 2.5-56.8%). Factors associated with a worse outcome were a significant degree of thoracic kyphosis, days in the intensive care unit, and poor nutritional status. CONCLUSION: Caregivers report a high degree of satisfaction with scoliosis surgery for children with spastic quadriplegia. There is limited evidence of preoperative factors that can predict patient outcome after scoliosis. There is a need for well-designed prospective studies of scoliosis surgery in spastic quadriplegia.