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.

Redefining fatty liver disease: an international patient perspective.

Despite its increased recognition as a major health threat, fatty liver disease associated with metabolic dysfunction remains largely underdiagnosed and undertreated. An international consensus panel has called for the disease to be renamed from non-alcoholic fatty liver disease (NAFLD) to metabolic-associated fatty liver disease (MAFLD) and has suggested how the disease should be diagnosed. This Viewpoint explores the call from the perspective of patient advocacy groups. Patients are well aware of the negative consequences of the NAFLD acronym. This advocacy group enthusiastically endorses the call to reframe the disease, which we believe will ultimately have a positive effect on patient care and quality of life and, through this effect, will reduce the burden on health-care systems. For patients, policy makers, health planners, donors, and non-hepatologists, the new acronym MAFLD is clear, squarely placing the disease as a manifestation of metabolic dysfunction and improving understanding at a public health and patient level. The authors from representative patient groups are supportive of this change, particularly as the new acronym is meaningful to all citizens as well as governments and policy makers, and, above all, is devoid of any stigma.

Prevalence and characteristics of autism spectrum disorders in children with cerebral palsy.

AIM: To evaluate the prevalence of co-occurring autism spectrum disorders (ASDs) among children with cerebral palsy (CP), and to describe their characteristics. METHOD: The data of 1225 CP cases from four population-based registers (Iceland, Sweden, and two in France) and one population-based surveillance programme (North East England, UK) participating in the Surveillance of Cerebral Palsy in Europe Network (SCPE) were analysed. The ASD diagnoses were systematically recorded using category F84 of the International Classification of Diseases, 10th Revision. The registers provided data on children born between 1995 and 2006, while the cross-sectional survey in the UK concerned children aged 0 to 19 years, registered in 2010. RESULTS: Among the children with CP, 107 had an associated diagnosis of ASD - i.e., 8.7% of the study population (95% confidence interval 7.2-10.5). This proportion varied across centres from 4.0% to 16.7% but was independent of CP prevalence. Male sex, co-occurring epilepsy, intellectual disability, and better walking ability were associated with the coexistence of ASD. INTERPRETATION: Our findings support the need for a multidisciplinary approach to management of children with CP to adequately identify and address all facets of presentation, including ASD.

Incidence and prevalence of total joint replacements due to osteoarthritis in the elderly: risk factors and factors associated with late life prevalence in the AGES-Reykjavik Study.

BACKGROUND: Total joint replacements (TJRs) should be considered as one of few definite endpoints in osteoarthritis research. We analyzed factors associated with late-life prevalence and risk factors for incidence of TJRs due to osteoarthritis in a population based cohort. METHODS: After exclusion of inflammatory arthritis and fractures as causes of TJR, 5170 participants in the AGES-Reykjavik Study (mean age (SD) 76.4(6), 58% females) were included for osteoarthritis studies. Three thousand one hundred thirty-three of them had a follow-up visit 5 years later. RESULTS: The prevalence of having at least one joint replacement operation due to OA was 13.6% and the yearly incidence was 1.4%/year during the five-year follow-up. Factors positively associated with late life prevalence of TJR included BMI, hand OA severity, female gender, finger length ratio and spine BMD. Risk factors for TJRs in the incidence group were symptoms at initial visit, prior TJR in the contralateral joint and BMI. Much stronger associations were seen for TKR than for THR with discriminatory analysis showing an AUC 0.71 for late life prevalence and 0.84 for the incidence. CONCLUSIONS: This study illustrates the importance of the different information expressed by late life prevalence vs. incidence on the factors associated with severe osteoarthritis of the knee and hip. The observation that prior TJR is a risk factor for subsequent TJR in the contralateral joint has not been described previously. The high power predictions for TKR suggest that a predictive model may be feasible, particularly if it can be extended by the addition of further predictive variables, perhaps through genetic, biomarker or imaging data.

Gastrostomy tube feeding of children with cerebral palsy: variation across six European countries.

AIM: To compare the prevalence of gastrostomy tube feeding (GTF) of children with cerebral palsy (CP) in six European countries. METHOD: Data on 1295 children (754 males, 541 females; mean age 5y 11mo, range 11y 2mo, min 6mo, max 11y 8mo) with CP born from 1999 to 2001 were collected from geographically defined areas in six European countries; four of the areas covered the whole country. Distribution of CP was unilateral 37%, bilateral 51%, dyskinetic 8%, and ataxic 4%. Sixty children were classified in Gross Motor Function Classification System (GMFCS) levels I and II, 6 in level III and 34 in levels IV and Vas Outcome measures were GTF, age at placement, feeding difficulties and the children's height and weight for age standard deviation scores (z-scores). RESULTS: The use of GTF among all children with CP was highest in western Sweden (22%, 95% confidence interval [CI] 16-29), and lowest in Portugal (6%, 95% CI 3-10), northern England (6%, 95% CI 3-9) and in Iceland (3%, 95% CI 0-13; p<0.001). The difference between areas was greater among children in GMFCS levels IV and V (non-ambulant); in this group, lower height z-scores were more prevalent in the areas with lower prevalence of GTF. The children's age at placement of gastrostomy also varied between areas (p<0.002). INTERPRETATION: The observed differences in the use of GTF may reflect differences in access to treatment or clinical practice, or both. Our results suggest that the use of GTF may improve growth in height and weight among children with more severely affected gross motor function - the group most likely to have associated feeding difficulties.

Epilepsy and cerebral palsy: characteristics and trends in children born in 1976-1998.

BACKGROUND: Although epilepsy is common in children with cerebral palsy (CP), no data exists on prevalence rates of CP and epilepsy. AIMS: To describe epilepsy in children with CP, and to examine the association between epilepsy and neonatal characteristics, associated impairments and CP subtypes. METHODS: Data on 9654 children with CP born between 1976 and 1998 and registered in 17 European registers belonging to the SCPE network (Surveillance of Cerebral Palsy in Europe) were analyzed. RESULTS: A total of 3424 (35%) children had a history of epilepsy. Among them, seventy-two percent were on medication at time of registration. Epilepsy was more frequent in children with a dyskinetic or bilateral spastic type and with other associated impairments. The prevalence of CP with epilepsy was 0.69 (99% CI, 0.66-0.72) per 1000 live births and followed a quadratic trend with an increase from 1976 to 1983 and a decrease afterwards. Neonatal characteristics independently associated with epilepsy were the presence of a brain malformation or a syndrome, a term or moderately preterm birth compared with a very premature birth, and signs of perinatal distress including neonatal seizures, neonatal ventilation and admission to a neonatal care unit. CONCLUSIONS: The prevalence of CP with epilepsy followed a quadratic trend in 1976-1998 and mirrored that of the prevalence of CP during this period. The observed relationship between epilepsy and associated impairments was expected; however it requires longitudinal studies to be better understood.

Speech, expressive language, and verbal cognition of preschool children with cerebral palsy in Iceland.

AIM: The aim of this study was to describe speech, expressive language, and verbal cognition of children with cerebral palsy (CP). METHOD: A population study included 152 Icelandic children with congenital CP (74 males, 78 females; mean age 5y 5mo, range 4y-6y 6mo). Children who spoke in sentences, phrases, or one-word utterances were categorized as verbal. Speech was classified as normal, mild dysarthria, or severe dysarthria. Cognition was reported as IQ (Wechsler Preschool and Primary Scale of Intelligence - Revised) or developmental quotient (DQ). RESULTS: Most children (81%) had spastic CP and bilateral symptoms (76%); 74 (49%) were at Gross Motor Function Classification System (GMFCS) level I, 27% at levels II and III, and 24% at levels IV and V (p<0.001). One hundred and twenty-eight children (84%) communicated verbally whereas 24 were nonverbal. Nonverbal status and severe dysarthria were associated with greater motor impairment (GMFCS; p<0.001). Twenty-five children (16%) had severe dysarthria. Most (88%) of the nonverbal children had multiple disabilities compared with 18% of the verbal group (p<0.001). Median (interquartile range) verbal IQ was 93 (73-104) and performance IQ 77 (61-94; p<0.001). Sixty-eight children (45%) had normal verbal cognition and almost a quarter of the children with severe dysarthria had a full-scale IQ/DQ of 70. INTERPRETATION: Most children with CP express sentences and almost half of them have normal verbal IQ. Nonverbal status frequently indicates multiple impairments whereas severe dysarthria may be associated with normal cognition.

Behavioural and emotional symptoms of preschool children with cerebral palsy: a population-based study.

AIM: To describe behavioural and emotional symptoms among Icelandic preschool children with cerebral palsy (CP). METHOD: Children with congenital CP, assessed with the Child Behavior Checklist/1½-5 (CBCL/1½-5) and Caregiver-Teacher Report Form (C-TRF), were enrolled in the study. A comparison group was recruited from the general population. Thirty-six children (53% males) with CP were assessed at a mean age of 4 years 11 months (SD 5 mo, range 4-6 y); 26 (72%) had bilateral distribution of symptoms and 32 (89%) had spastic CP. Thirty (83%) were at Gross Motor Function Classification System levels I or II and six at levels III or IV. For comparison, 110 (43% males) and 120 (48% males) children were assessed with the CBCL/1½-5 and the C-TRF respectively, at a mean age of 4 years 6 months (SD 6 mo, range 4-6 y). RESULTS: Sixteen children (48%) with CP had high scores on total problems scale of the CBCL/1½-5 and 20 (65%) on the C-TRF compared with 18% of the comparison group, both on the CBCL/1½-5 and the C-TRF (p<0.001). Children with CP had higher scores on all subscales of the CBCL/1½-5 and the C-TRF, except somatic complaints. Attention difficulties, withdrawn, aggressive behaviour, and anxious/depressed symptoms were most pronounced among children with CP. INTERPRETATION: A large proportion of preschool children with CP have substantial behavioural and emotional difficulties, which need to be addressed in their treatment.

Trends in prevalence and characteristics of cerebral palsy among Icelandic children born 1990 to 2003.

AIM: To describe trends in cerebral palsy (CP) prevalence, severity, and associated impairments among 139 Icelandic children (65 males, 74 females) born from 1990 to 1996 (period one) and 1997 to 2003 (period two). METHOD: A population-based study using systematically collected data on motor functioning and associated impairments of children with CP. Mean age at assessment was 5 years 5 months (SD 7.68 mo) in period one and 5 years 5 months (SD 10.44 mo) in period two. Infants with postneonatal CP were excluded. RESULTS: Prevalence of CP per 1000 live births was 2.2 in period one and 2.3 in period two (p=0.862); it decreased from 1.5 to 0.9 for children born at term, was stable for preterm births, but increased from 33.7 to 114.6 for very preterm births (p=0.002). Concurrently, neonatal and infant mortality rates decreased in Iceland. The proportion of children born preterm increased over time (p=0.002), whereas improvements in gross motor function assessed with the Gross Motor Function Classification System were confined to term births (p=0.009). The proportion of children with diplegia increased, accompanied by a decrease in the proportion with quadriplegia (p=0.047). Furthermore, among term births there was a significant reduction over time in the proportion of children with epilepsy (p=0.030) and in the proportion with two or more associated impairments (p=0.030). INTERPRETATION: Although CP prevalence remained stable over 14 years, we observed a decrease in prevalence and severity of the disability among term births.

Cognitive profile in young Icelandic children with cerebral palsy.

We describe the cognitive profile in a complete national cohort of children with cerebral palsy (CP). One hundred and twenty-seven Icelandic children (67 females, 60 males) with CP, born between 1985 and 2000 and assessed between the ages of 4 and 6 years 6 months (mean age 5y 5mo, SD 6mo), were included in the study. IQ was measured using the Wechsler Preschool and Primary Scale of Intelligence (WPPSI) and developmental quotient (DQ) was obtained using various developmental scales. Physiological classification of CP in the children was: spasticity, n=104 (82%); dyskinesia, n=14 (11%); ataxia, n=six (4.7%), and unclassified CP, n=3 (2.3%). Spastic diplegia was the most prevalent subtype (35%) followed by hemiplegia and quadriplegia. Forty-five per cent of the group were at Level I of the Gross Motor Function Classification System, 32% were at Levels II and III, and 23% were at Levels IV and V. Sixty per cent of the children had an IQ or DQ >70. Median scores on the WPPSI were Full-scale IQ 84, Verbal IQ (VIQ) 92, and Performance IQ (PIQ) 77. Children with spastic diplegia and quadriplegia had a significantly lower PIQ than VIQ. Of the children who failed to complete the WPPSI, 20% had DQ >85. Thus, cognitive skills can be masked by limitations of movement and motor control in children with CP.

Follow-up of children diagnosed with pervasive developmental disorders: stability and change during the preschool years.

Forty-one children with pervasive developmental disorders (PDDs) receiving eclectic services were assessed twice during their preschool years. Measures were compared over time for the whole group and for diagnostic subgroups: Childhood autism (CA group) and Other PDDs group. The mean intelligence quotient/developmental quotient (IQ/DQ) of the whole group was stable (P = 0.209) and scores on the Childhood Autism Rating Scale (CARS) decreased (P = 0.001). At time 2, the CA group was more impaired than the other PDDs group: autistic symptoms were more severe (P = 0.01), adaptive behavior scores were lower (P = 0.014), and a trend for lower IQ/DQs (P = 0.06). Children in this study seemed to fare better than reported in previous follow-up studies on children with autism.

Validity of self-report and informant rating scales of adult ADHD symptoms in comparison with a semistructured diagnostic interview.

In a study of ADHD symptoms in the relatives of probands diagnosed with ADHD, the validity of self-reported and informant-reported symptoms in childhood and adulthood was investigated with a semistructured diagnostic interview, the Schedule for Affective Disorders and Schizophrenia for School-Age Children (K-SADS) adapted for adults, as a criterion. The participating relatives were 80 women and 46 men aged 17 to 77. Rating scales based on the Diagnostic and Statistical Manual of Mental Disorders (4th ed.) were completed by participants and informants. Internal consistency of the scales and interrater reliabilities of the diagnostic interview were satisfactory. Correlations between ratings across sources of information supported convergent and divergent validity. Self-report scales and informant scales predicted interview-based diagnoses in childhood and adulthood with adequate sensitivities and specificities. It was concluded that the rating scales have good psychometric properties, at least in at-risk populations.

Autism Diagnostic Interview-Revised and the Childhood Autism Rating Scale: convergence and discrepancy in diagnosing autism.

The agreement between the Autism Diagnostic Interview-Revised (ADI-R) and the Childhood Autism Rating Scale (CARS) was investigated in the diagnostic assessment of 54 children aged 22-114 months referred for possible autism. The observed agreement between the two systems was 66.7% (Cohen's kappa = .40) when the ADI-R definition for autism was applied (i.e., scores reaching cutoff in three domains on the ADI-R), but increased considerably with less stringent criteria; that is, scores reaching cutoffs in two domains and in one domain on the ADI-R. As predicted, the CARS identified more cases of autism than the ADI-R. Children classified as autistic according to both instruments had significantly lower IQ/DQ and more severe autistic symptomatology than those classified with the CARS only.