Congenital anomalies in children with cerebral palsy: a population‐based record linkage study

Aim Our aim was to determine the proportion of children with cerebral palsy (CP) who have a congenital anomaly (CA) in three regions (Isère Region, French Alps; Funen County, Denmark; Northern Region, England) where population‐based CP and CA registries exist, and to classify the children according to CA subtype. Method Data for children born between 1991 and 1999 were linked using electronic matching of cases. All potential matches were checked manually by each centre and verified as true matches. Results A total of 1104 children with CP were born during the study period (663 males, 441 females). Of these, 166 (15%; 95% Confidence Interval [CI] 13.0–17.3) children with CP had a CA: 8.8% had a cerebral anomaly, 4.8% had a non‐cerebral anomaly, and 1.4% had a non‐cerebral‐related syndrome or a chromosomal/genetic anomaly. Interpretation The prevalence of cerebral anomaly was highest in children with ataxic CP (41.7%) and lowest in those with dyskinetic CP (2.1%). Cerebral anomalies were found in 8.4% and 7% of children with bilateral and unilateral spastic CP respectively. The most frequent cerebral anomalies were primary microcephaly (26.5%) and congenital hydrocephalus (17.3%). The most common non‐cerebral anomalies recorded were cardiac (12.6% of children with CP and CA), urinary (5.4%), and musculoskeletal (5.4%). The prevalence of cerebral anomalies was higher among children born at term (13%) than among those born preterm (3.8%). Associated sensorineural or intellectual impairments occurred more often in children with CP and cerebral anomalies. We concluded that cerebral and non‐cerebral CA prevalence was higher among the CP population than in the general population of live births.     

Level of purposeful hand function as a marker of clinical severity in Rett syndrome

Aim We investigated relationships between hand function and genotype and aspects of phenotype in Rett syndrome. Method Video assessment in naturalistic settings was supplemented by parent‐reported data in a cross‐sectional study of 144 females with a mean age of 14 years 10 months (SD 7y 10mo; range 2y–31y 10mo), 110 of whom had a mutation of the methyl CpG binding protein 2 (MECP2) gene. Ordinal logistic regression was used to assess relationships between hand function and MECP2 mutation, age, a modified Kerr score, Functional Independence Measure for Children (WeeFIM), ambulation level, and frequency of hand stereotypies. Results Approximately two‐thirds of participants demonstrated purposeful hand function, ranging from simple grasping skills to picking up and manipulating small objects. In participants with a confirmed MECP2 mutation, those with the p.R168X mutation had the poorest hand function on multivariate analysis with C‐terminal deletion as the baseline (odds ratio [OR] 0.19; 95% confidence interval [CI] 0.04–0.95), whereas those with the p.R133C or p.R294X mutation had better hand function. Participants aged 19 years or older had lower hand function than those aged less than 8 years (OR 0.36; 95% CI 0.14–0.92). Factors that were associated with better hand function were lower Kerr scores for a 1‐point increase in score (OR 0.77; 95% CI 0.69–0.86), higher WeeFIM scores for a 1‐point increase in score (OR 1.08; 95% CI 1.04–1.12), and greater ambulation than those completely dependent on carers for mobility (OR 22.64; 95% CI 7.02–73.08). The results for participants with a confirmed pathogenic mutation were similar to results obtained when participants without a mutation were also included. Interpretation Our novel assessment of hand function in Rett syndrome correlated well with known profiles of common MECP2 mutations and overall clinical severity. This promising assessment could measure clinical responses to therapy.     

Investigation of childhood central nervous system vasculitis: magnetic resonance angiography versus catheter cerebral angiography

Aim We compared the clinical utility of magnetic resonance angiography (MRA) to catheter cerebral angiography (CA) in the investigation of children with suspected central nervous system (CNS) vasculitis. Method Single‐centre retrospective review of children with a suspected diagnosis of CNS vasculitis studied with both MRA and CA. MRA and CA‐detected abnormalities (location, multiplicity, and morphology) were compared; sensitivity and specificity were calculated on a per lesion and per patient basis for MRA, with CA as the reference standard. Results Findings in fourteen patients (median age at presentation of 5y 10mo [range 1y 5mo–14y 5mo]; eight males, six females) relating to sixteen paired studies of MRA and CA were reviewed. CA‐detected lesions were commonly bilateral (13/16 studies, p<0.05), and likely to be proximally distributed (15/16 studies, p<0.05).The sensitivity and specificity of MRA for CA lesion detection was 63% (95% confidence interval [CI] 48–78) and 89% (95% CI 81–93), respectively with moderate agreement between the two modalities (κ=0.51, 95% CI 0.37–0.66). The majority of the false negative observations involved the posterior circulation (9/14). The overall sensitivity for MRA diagnosis of vasculitis per patient was 94% (95% CI 67–99). Interpretation MRA failed to identify all lesions detected on CA, particularly those in the posterior circulation. MRA is a reasonable initial modality in the investigation of suspected CNS vasculitis but in cases of abnormal parenchymal MRI and normal MRA, CA should be considered.     

MICROSURGICAL REPAIR OF THE ADOLESCENT VARICOCELE

Purpose

Since clinically apparent varicoceles may affect testicular volume and sperm production, early repair has been advocated. However, repair of the pediatric varicocele with conventional nonmagnified techniques may result in persistence of the varicocele after up to 16% of these procedures. Also testicular artery injury and postoperative hydrocele formation can occur after nonmagnified repair. The microsurgical technique has been successfully completed in a large series of adults with a dramatic reduction in complication and recurrence rates. We report our experience with the microsurgical technique in boys.

Materials and Methods

A total of 30 boys (average age 15.9 years) underwent 42 microsurgical varicocelectomies (12 bilateral). All patients had a large left varicocele. Indications for repair included testicular atrophy (size difference between testicles of greater than 2 ml.) in 20 boys, pain in 5 and a large varicocele without pain or testicular atrophy in 5. Six boys were referred following failure of conventional nonmicrosurgical techniques. All boys were examined no sooner than 1 month postoperatively (mean followup 12).

Results

Preoperative volume of the affected testis averaged 13.0 ml., and an average size discrepancy between testicles of 2.8 ml. was noted before unilateral varicocelectomy. No cases of persistent or recurrent varicoceles were detected, and 1 postoperative hydrocele resolved spontaneously. After unilateral varicocelectomy the treated testes grew an average of 50.1%, while the contralateral testes grew only 23%. Overall, 89% of patients with testicular atrophy demonstrated reversal of testicular growth retardation after unilateral varicocelectomy. In contrast, both testes showed similar growth rates after bilateral varicocelectomy (45% left testis, 39% right testis).

Conclusions

The meticulous dissection necessary to preserve arterial and lymphatic supply, and to ligate all spermatic veins in the pediatric patient is readily accomplished using a microsurgical approach, and results in low recurrence and complication rates. Rapid catch-up growth of the affected testis after microsurgical varicocelectomy suggests that intervention during adolescence is effective and warranted.     

HOLMIUM LASER VERSUS TRANSURETHRAL RESECTION OF THE PROSTATE: A RANDOMIZED PROSPECTIVE TRIAL WITH 1-YEAR FOLLOWUP

PURPOSE: The high-powered holmium:YAG laser can be used for incision, ablation and resection of the prostate. The technique of holmium laser resection of the prostate is compared to transurethral prostatic resection for surgical management of benign prostatic hyperplasia in this prospective randomized study. MATERIALS AND METHODS: A total of 120 urodynamically obstructed cases were randomized to holmium laser or transurethral prostatic resection. All eligible patients were assessed preoperatively and at 3 weeks, and 3, 6 and 12 months postoperatively with an American Urological Association symptom score, peak urinary flow rate, and questionnaires concerning sexual function and continence. Preoperative pressure flow study, ultrasound prostate volume assessment and post-void residual volume measurement were repeated at the 6-month visit. All complications were noted. RESULTS: Holmium laser and transurethral resections resulted in significant improvements in symptom score, quality of life score, peak urinary flow rate and post-void residual urine measurements. Operating time was significantly longer in the holmium group but nursing contact time, catheter time and hospital stay were significantly less compared to the transurethral prostatic resection group. Urodynamic results were equivalent at 6 months. There were fewer side effects in the holmium group. Effects on continence, potency and symptoms were similar with 1-year followup. CONCLUSIONS: Holmium and transurethral resections of the prostate appear to be equivalent in surgical management of bladder outflow obstruction due to benign prostate hyperplasia. Perioperative morbidity was less in the holmium group.     

Lifetime costs of cerebral palsy

This study quantified the lifetime costs of cerebral palsy (CP) in a register-based setting. It was the first study outside the US to assess the lifetime costs of CP. The lifetime costs attributable to CP were divided into three categories: health care costs, productivity costs, and social costs. The population analysed was retrieved from the Danish Cerebral Palsy Register, which covers the eastern part of the country and has registered about half of the Danish population of individuals with CP since 1950. For this study we analysed 2367 individuals with CP, who were born in 1930 to 2000 and were alive in 2000. The prevalence of CP in eastern Denmark was approximately 1.7 per 1000. Information on productivity and the use of health care was retrieved from registers. The lifetime cost of CP was about €860 000 for men and about €800 000 for women. The largest component was social care costs, particularly during childhood. A sensitivity analysis found that alterations in social care costs had a small effect, whereas lowering the discount rate from 5 to 3 per cent markedly increased total lifetime costs. Discounting decreases the value of costs in the future compared with the present. The high social care costs and productivity costs associated with CP point to a potential gain from labour market interventions that benefit individuals with CP.