Longitudinal study showed that the quality of life of Finnish adolescents with cerebral palsy continued to be relatively good.

AIM: This longitudinal study examined what perceptions paediatric patients with cerebral palsy (CP) and their caregivers had of the patient's quality of life (QoL). It examined changing trends as children with CP became adolescents and examined the feasibility of the Finnish version of the CP QOL-Teen questionnaire. METHODS: Carried out in autumn 2015, this study formed part of the multi-centre Finnish national CP project and aimed to validate the CP QOL-Teen questionnaire, which was posted to 54 adolescents and their caregivers. They included 24 who had responded to CP QOL-Child questionnaire in 2013. RESULTS: The questionnaires were returned by 27 pairs of adolescents and caregivers and one extra caregiver also responded. Of these, 24 pairs had taken part in the 2013 survey. The internal consistencies of the sum variables were found to be acceptable in all cases. Overall QoL showed an average score of 81.8 on a scale from 0 to 100. Adolescents reported significantly higher QoL than their caregivers. There were no significant differences between the responses of the children and adolescents. CONCLUSION: We showed that QoL was relatively good in childhood and adolescence. The Finnish version of the CP QOL-Teen questionnaire was an appropriate clinical tool for assessing QoL.

Multiprofessional evaluation in clinical practice: establishing a core set of outcome measures for children with cerebral palsy.

AIM: To develop a national consensus on outcome measures that define functional ability in children with cerebral palsy (CP) according to the International Classification of Functioning, Disability and Health (ICF) framework. METHOD: The project started in 2008 in neuropaediatric units of two university hospitals and one outpatient clinic. Each professional group selected representatives to be knowledge brokers for their own specialty. Based on the evidence, expert opinion, and the ICF framework, multiprofessional teams selected the most valid measures used in clinical practice (2009-2010). Data from 269 children with CP were analysed, classified by the Gross Motor Function Classification System, Manual Ability Classification System, and Communication Function Classification System, and evaluated. RESULTS: The process aimed at improving and unifying clinical practice in Finland through a national consensus on the core set of measures. The selected measures were presented by professional groups, and consensus was reached on the recommended core set of measures to be used in all hospitals treating children with CP in Finland. INTERPRETATION: A national consensus on relevant and feasible measures is essential for identifying differences in the effectiveness of local practices, and for conducting multisite intervention studies. This project showed that multiprofessional rehabilitation practices can be improved through respect for and inclusion of everyone involved.

Quality of life of Finnish children with cerebral palsy.

PURPOSE: The aim of this study was to examine the quality of life (QOL) of Finnish children with cerebral palsy (CP) in different parts of Finland from the children's and caregivers' perspectives. The acceptability of the Finnish version of the CP QOL-Child questionnaire for clinical use is also evaluated. METHOD: This study was conducted in 2010-2013 as a part of the national CP-project. It is based on validated CP QOL-Child questionnaires. Children between 9 and 12 years were asked to fill in the child-self-report version. Caregivers who had a 4- to 12-year-old child with CP filled in parent-proxy reports. RESULTS: Responses were obtained from 63 children and 161 caregivers. The response rates were 63 and 60%, respectively. Overall QOL was reported to be fairly good with no significant regional differences within Finland. Children reported significantly higher QOL in all QOL-domains except "social wellbeing and acceptance" than their caregivers did. The results showed acceptable levels of internal consistency of the Finnish version of the CP QOL-Child. CONCLUSIONS: QOL of children with CP is quite good in Finland. However, barriers to participation and the impact of disability and pain impair QOL. The Finnish version of the CP QOL-Child questionnaire is an appropriate clinical tool to assess QOL. IMPLICATIONS FOR REHABILITATION: The used questionnaire provides an effective tool to identify areas for targeting support actions and to set goals for rehabilitation plans. The study brings forward the voices of children. It was found that pain has a great role in QOL, which should be taken into account when making rehabilitation plans. The participation of children with CP should be strengthened in every possible ways.

A 13-year follow-up of Finnish patients with Salla disease.

BACKGROUND: Salla disease (SD) is a rare lysosomal storage disorder leading to severe intellectual disability. SD belongs to the Finnish disease heritage, and it is caused by mutations in the SLC17A5 gene. The aim of the study was to investigate the course of neurocognitive features of SD patients in a long-term follow-up. METHODS: Neuropsychological and neurological investigations were carried out on 24 SD patients, aged 16-65 years, 13 years after a similar examination. RESULTS: The survival analysis showed excess mortality among patients with SD after the age of 30 years. The course of the disease was progressive, but follow-up of SD patients revealed that motor skills improved till the age of 20 years, while mental abilities improved in most patients till 40 years of age. Verbal comprehension skills did not diminish during the follow-up, but productive speech deteriorated because of dyspraxia and dysarthria. Motor deficits were marked. Ataxia was prominent in childhood, but it was replaced by athetotic movements during the teens. Spasticity became more obvious with age especially in severely disabled SD patients. CONCLUSIONS: Younger SD patients performed better in almost every task measuring mental abilities that then seem to remain fairly constant till early sixties. Thus, the results indicate better prognosis in cognitive skills than earlier assumed. There is an apparent decline in motor skills after the age of 20 years. The early neurocognitive development predicts the later course of motor and cognitive development.

Brain oscillatory EEG event-related desynchronization (ERD) and -sychronization (ERS) responses during an auditory memory task are altered in children with epilepsy.

PURPOSE: Children with epilepsy are in risk for cognitive impairment, but reliable methods, other than neuropsychological testing, to verify such a decline are few. The purpose of this study was to assess the effect of infrequent seizures on cognitive skills in children with non-symptomatic focal epilepsy taking antiepileptic medication but still having infrequent seizures. METHODS: EEG (electroencephalogram) brain electric oscillatory responses of the 4-6Hz, 6-8Hz, 8-10Hz and 10-12Hz EEG frequency bands were studied. These responses, assessed by means of the event-related desynchronization (ERD) and synchronization (ERS) method, were recorded in 6 children with epilepsy (mean age 11.3 years) and in 11 control children (mean age 12 years) while they performed an auditory memory task. All subjects also underwent a comprehensive neuropsychological test battery. RESULTS: The differences in the 4-6Hz ERD/ERS responses between encoding and recognition were smaller in the children with epilepsy as compared to those of the control children. In the 6-8Hz frequency band, the responses of the two groups dissociated most notably in the frontal electrodes. No statistically significant differences in the alpha frequency range (8-12Hz) were observed between the groups. CONCLUSIONS: Significant alterations in the lower EEG frequency (4-8Hz) ERD/ERS responses in children with epilepsy during auditory memory processing, as compared to age-matched, healthy children may suggest that seizures affect memory and underlying brain processes, indexed also by poorer performance particularly in neuropsychological subtests related to language functions.

Quantitative HMRS and MRI volumetry indicate neuronal damage in the hippocampus of children with focal epilepsy and infrequent seizures.

PURPOSE: Seizures induce progressive morphologic and functional changes in particular in the hippocampus, but whether and at what stage the hippocampus is affected in children with focal, temporal, nonintractable epilepsy is poorly known. We have now studied eventual metabolic and volume changes in the hippocampus of children with nonsymptomatic focal epilepsy taking antiepileptic medication (AEDs) but still having infrequent seizures. METHODS: Quantitative proton magnetic resonance spectroscopy ((1)HMRS) and volumetric MRI were used to study the hippocampal region of 11 pediatric outpatients (age 10 to 17 years) with cryptogenic localization-related epilepsy, and eight healthy volunteers (age 9 to 16 years) served as controls. The spectra were obtained bilaterally from the hippocampi by using the 1.5-T MR imager. The spectral resonance lines of N-acetyl group (NA), creatine and phosphocreatine group (Cr), choline-containing compounds (Cho), and myoinositol (mI) were analyzed quantitatively. The volume of the hippocampus was semiautomatically calculated. RESULTS: The mean concentration of NA was significantly decreased both in the focus side (9.02 +/- 2.00 mM) and in the nonfocus side (8.88 +/- 2.09 mM) of the patients compared with the controls (10.76 +/- 1.86 mM), in particular if the children had a history of generalized tonic-clonic seizures. The mean concentrations of Cho, Cr, and mI did not differ significantly between the patients and controls. Moreover, the mean hippocampal volume of the focus side of patients was significantly reduced compared with that of the controls. CONCLUSIONS: Metabolic changes in hippocampi were detected in children with nonsymptomatic localization-related epilepsy and infrequent seizures. Reduced NA could reflect neuronal metabolic dysfunction and/or neuronal damage, as indicated by our volumetric findings.

Neurocognitive profiles in Salla disease.

Salla disease, a free sialic acid storage disorder, is one of the 36 currently known disorders in Finland that form the Finnish disease heritage. Salla disease leads to learning disability* with a wide clinical variation. Two main categories of the disease have been classified: a conventional subtype and a severe subtype with more severe defects. We present detailed neurocognitive profiles of 41 Finnish patients with Salla disease (19 females, 22 males; age range 11mo to 63y, median 19y). The neurocognitive development of patients with Salla disease was assessed by psychological and neuropsychological testing. All patients were also examined by a paediatric neurologist and a speech therapist. The characteristic cognitive profile consisted of a lower non-verbal performance (mean developmental age 13mo) compared with linguistic skills (mean developmental age 17mo). In particular, spatial and visual-constructive impairments were typical of these patients. Tactile and visual discrimination of forms was poor. Tasks demanding hand-eye coordination, maintenance of visual attention, and those requiring short-term visual memory and executive skills were performed better. Receptive language skills were notably better compared with expressive speech. The patients' interactive and non-verbal communication skills were quite strong. Another typical pattern with Salla disease was severe motor disability. After the second decade of life, the decline in these skills was more pronounced than patients' cognitive deterioration. Our results indicate that even though there is a considerable variation in the clinical findings of patients with Salla disease, the characteristic neurocognitive profile of the disease can be outlined.

Phenotypic spectrum of Salla disease, a free sialic acid storage disorder.

Salla disease (MIM 269920) represents the mildest phenotype among recessively inherited lysosomal-free sialic acid storage disorders. Although the vast majority of Salla disease patients in Finland share the same founder mutation, R39C in the SLC17A5 gene, there still is a wide clinical variation among mentally retarded, ataxic patients. We evaluated neurologic and neurocognitive findings of Salla disease in a cross-sectional study of 41 Finnish patients who were 11 months to 63 years of age (median = 19.5 years). The phenotype of Salla disease could be classified into two main categories. The majority of patients (90%) had so-called conventional phenotype, including a subgroup of seven patients with relatively mild symptoms. All but two patients with conventional phenotype were homozygous for the Finnish founder mutation. Four severely disabled, profoundly mentally retarded patients, 15-28 years of age, clearly could be clinically delineated as a separate group, likely reflecting the underlying compound heterozygous genotype. A typical developmental pattern could be outlined in the conventional type of the disease, emphasizing a strong motor handicap in Salla disease. The cognitive profile consisted of better verbal ability, especially speech comprehension, compared with nonverbal functioning in all patients. Our results indicate a partial genotype-phenotype correlation, although factors other than the molecular background are also involved in the phenotypic manifestation of Salla disease.