Prevalence, Clinical Features, Neuroimaging, and Genetic Findings in Children With Ataxic Cerebral Palsy in Europe.

BACKGROUND AND OBJECTIVES: To report on prevalence, associated impairments, severity, and neuroimaging findings in children with ataxic cerebral palsy (CP). METHODS: In children coded as having ataxic CP in the Central database of Joint Research Center-Surveillance of Cerebral Palsy in Europe (JRC-SCPE) and born during 1980-2010, birth characteristics, severity profiles including associated impairments, neuroimaging patterns, and the presence of syndromes were analyzed. Definitions were according to validated SCPE guidelines. Prevalence over time was estimated using Poisson regression. RESULTS: In total, 679 children with ataxic CP were identified in 20 European CP registers. The proportion with ataxic CP was 3.8% and varied from 0% to 12.9%. Prevalence over time showed no significant trend. Approximately 70% of children with ataxic CP were able to walk, and 40% had severe intellectual impairment and a high impairment index. Children with ataxic CP were mostly born at term (79%) and with normal birth weight (77%). Neuroimaging patterns revealed normal findings in 29%, brain maldevelopments in 28.5%, miscellaneous findings in 23.5%, and brain injuries in 19%, according to the SCPE classification. Genetic syndromes were described in 9%. DISCUSSION: This register-based multicenter study on children with ataxic CP provides a large sample size for the analysis of prevalence, severity, and origin of this rare CP subtype. Even with strict inclusion and classification criteria, there is variation between registers on how to deal with this subtype, and diagnosis of ataxic CP remains a challenge. Ataxic cerebral palsy differs from other CP subtypes: children with ataxic CP have a disability profile that is more pronounced in terms of cognitive than gross motor dysfunction. They are mostly term born and the origin rarely suggests acquired injuries. In addition to neuroimaging, a comprehensive genetic workup is particularly recommended for children with this CP type.

Hyperactivity and the psychological burden of Perthes disease: a case-control study.

BACKGROUND: Legg-Calve-Perthes Disease (LCPD) is a childhood precursor to hip osteoarthritis, for which the etiology is unknown. There is a widespread belief that affected individuals are "hyperactive," propagating a theory that such children may have sustained an epiphyseal injury that precipitated the onset of LCPD. This study seeks to quantify the association with hyperactivity, and the wider psychological burden of the disease. METHODS: A case-control study was conducted among 146 cases of LCPD and 142 hospital controls, frequency matched by age and sex. Psychological domains were measured using the Strength and Difficulties Questionnaire. Adjustment was made for age, sex, and socioeconomic deprivation. Results were stratified by the time elapsed since LCPD was diagnosed. RESULTS: Significant associations (P<0.05) existed with the majority of the psychological domains captured by the Strength and Difficulties Questionnaire [odds ratio (OR) for "high" level of difficulties-Emotion OR 3.2, Conduct OR 2.1, Inattention-Hyperactivity OR 2.7, Prosocial Behavior OR 1.9]. Hyperactivity was especially marked among individuals within 2 years of diagnosis (OR 8.6; P<0.001), but not so among individuals over 4 years from diagnosis. Emotional symptoms persisted long after resolution of the active phase of disease. CONCLUSIONS: There was a marked psychological burden among individuals with LCPD, which was most marked amongst individuals with a recent diagnosis. The breadth and inferred temporality of these disturbances may be a function of the disease process, through restriction of activities and disability, or may be a fundamental disease characteristic related directly to disease or to its etiological determinant.

Children with cerebral palsy: severity and trends over time.

Increasingly, more very-low-birthweight infants in the developed world are now expected to survive the neonatal period than was previously the case. There are concerns that there may be a related increase in the number of infants developing severe sensorimotor impairments. Pooled data from five registers contributing to the UK Network of Cerebral Palsy Registers, Surveys and Databases were used to identify patterns of motor impairment in relation to additional impairments and to birthweight, and to assess whether prevalence of cerebral palsy (CP) by birthweight and by severity of motor impairment had changed over time. Low-birthweight infants are at greater risk of developing CP than larger-birthweight babies. The CP rate amongst children with birthweights <2500 g was significantly higher at 16 per 1000 livebirths [95% confidence interval (CI) 14.9, 16.2] than 1.2 per 1000 livebirths [95% CI 11, 1.2] for normal-birthweight children. Despite being at greater risk of developing CP, smaller-birthweight babies are proportionately less likely to develop the most severe forms of motor impairment. Of those born weighing > or = 2500 g, 23% compared with 15% weighing <1000 g (P < 0.001) were in the most severely motor impaired group. Severe motor impairment is associated with higher levels of additional impairments. CP rates for each motor impairment group in the 1990s were similar to those in the late 1970s. Rates of CP among infants born below normal birthweight are high but have decreased over time. The CP rate for infants weighing 1000-1499 g at birth decreased from around 180 per 1000 livebirths in 1979 to around 50 per 1000 livebirths from the early 1990s onwards.

Sudden infant death syndrome in twins and singletons.

Twins compared with singletons and monozygous (MZ) compared with dizygous (DZ) twins are at increased risk of fetal and infant death, cerebral palsy and many congenital anomalies. The aim of this study is to investigate whether zygosity is a risk factor for the sudden infant death syndrome (SIDS). Birth registration data and draft infant death certificates for all multiple births in England and Wales 1993 to 2003 were provided by the Office for National Statistics. As a partial proxy for zygosity, same-sex was compared with opposite-sex twins for birthweight-specific mortality and mortality attributed to SIDS. Data on singleton infants were obtained by subtraction of multiple births from routinely published population births and infant deaths. SIDS mortality among low birthweight infants was significantly less in twins than singletons. The twin-singleton relative risk was reversed in infants of normal birthweight. Among infants of normal birthweight, neonatal SIDS was significantly more common in same- compared with opposite-sex pairs. Among infants of low birthweight, postneonatal SIDS was significantly more common in same- compared with opposite-sex pairs. The difference in birthweight distribution of same- compared with opposite-sex twins for neonatal SIDS suggests that zygosity is a risk factor for SIDS. As congenital cerebral anomalies are a feature of many monozygous twin conceptions, a detailed macro- and microscopical examination of the brain in twin SIDS may indicate an otherwise unrecognised pathology.

Intrauterine growth and cerebral palsy in twins: a European multicenter study.

Population-based studies in twins have been of insufficient size to explore the relationship between risk of cerebral palsy and intrauterine growth. Earlier studies in singletons have suggested an optimum size at birth for minimum cerebral palsy risk between the 75th and 90th percentiles of weight for gestational age. We aggregated data from nine European cerebral palsy registers for 1976 to 1990. Using sex-specific fetal growth standards for twins, a z score of weight-for-gestation was derived for each of the 373 twin cases. The rates of cerebral palsy in each z-score band were compared to the rate in the a priori reference band of 0.67 to less than 1.28 (equivalent to the 75th to less than 90th percentiles). In twins born at 32 weeks' gestation or more (92% of all twins), cerebral palsy rates were higher for both light and heavy-for-gestation babies compared to an optimum (i.e., minimum risk) in the reference band. However, the rate ratio for heavy babies (90th percentile or greater) did not reach conventional (95% confidence intervals [CI]) statistical significance (rate ratios = 1.76; 90% CI 1.02-3.03). For twins born at less than 32 weeks, the significantly higher risk for cerebral palsy was observed consistently in all z-score bands less than average compared to the reference band. This multi-center study demonstrates that for twins born at 32 weeks' gestation or more, an increased risk of cerebral palsy is associated with deviations from optimal intrauterine growth at about 1 standard deviation above mean weight, as was earlier reported for singletons. For twins born at less than 32 weeks' gestation, this pattern is only demonstrable for babies weighing below the optimum weight-for-gestation.