A European study of non-progressive ataxia in children

Approved 27/05/2025, Swedish Ethical Review Authority (Box 2110, 750 02 Uppsala, 750 02, Sweden; +46 (0)10 475 08 00; registrator@etikprovning.se), ref: 2025-03263-01

Characterization of non-progressive congenital ataxia (NPCA)/ataxic cerebral palsy through integral analysis of clinical features, brain imaging, and advanced genomic testing at the time of study visit

1. Clinical assessment of ataxic features includes muscle tone, tremor, balance, spasticity, and dystonia. Evaluation of ataxic features with the Scale for the Assessment and Rating of Ataxia (SARA) at the time of study visit
2. Composite multidimensional assessment of intelligence or developmental quotient (IQ or DQ), Attention-Deficit/Hyperactivity Disorder (ADHD) and/or Autism Spectrum Disorder (ASD) (according to Diagnostic and Statistical Manual of Mental Disorder V criteria) at the time of study visit
3. Speech is classified using the Viking Speech Scale (VSS) at the time of study visit
4. Communication is classified using the Communication Function Classification System (CFCS) at the time of study visit
5. Gross motor function is classified with the Gross Motor Function Classification System (GMFCS) at the time of study visit
6. Fine motor function is classified with the Bimanual Fine Motor Function (BFMF) at the time of study visit
7. Manual ability is classified with the Manual Ability Classification System (MACS) at the time of study visit
8. Epilepsy seizure onset (first year/second year/fourth year/fifth year or later) assessed by parent interview at the time of study visit
9. Epilepsy type (focal/generalized/multiple types) assessed by parent interview at the time of study visit and retrospective data collection from medical records
10. Epilepsy frequency last year (seizure-free/seldom or monthly/weekly or daily/other (cluster or unclear) assessed by parent interview at the time of study visit and retrospective data collection from medical records
11. Epilepsy treatment: none/monotherapy/polytherapy (specify), drug resistant: yes/no, other treatment (specify), assessed by parent interview at the time of study visit and retrospective data collection from medical records
12. Visual impairment: yes/no. If yes: severe/not severe (Severe visual impairment definition: Defined as blind or no useful vision (after correction, on the better eye). If the level of vision loss is <6/60 (Snellen scale) or <0.1 (Decimal scale) in both eyes): retrospective data collection
13. Hearing impairment: yes/no. If yes: severe/not severe.(Severe hearing impairment definition: Defined as ‘severe’ or ‘profound’ hearing loss, i.e. loss greater than 70 dB (before correction, on the better ear): retrospective data collection
14. Gastrostomy/jejunostomy: Age of insertion (months) assessed by parent interview at the time of study visit and retrospective data collection from medical records
15. Neonatal imaging is classified using the Neonatal Imaging Classification System (NNICS): retrospective analysis of MRI scans through study completion, an average of 1 year
16. Postneonatal magnetic resonance imaging (MRI) is classified according to MRI Classification System (MRICS); retrospective analysis of MRI scans through study completion, an average of 1 year
17. Genomic analysis: Identification disease-associated variants. Analysis of existing or newly generated exome/genome sequencing data to identify single nucleotide variants, small insertions/deletions, structural variants, and repeat expansions. Retrospective or at the time of study participation, an average of 1 year.
18. Child's quality of life (proxy-reported) is assessed using KIDSCREEN-27. Completed by parent during study participation.
19. Parental psychological health is assessed using General Health questionnaire (GHQ-12). Completed by parents during study participation.
T. Perceived family burden is assessed using Family Impact of Childhood Disability (FICD+4), related to time, stress, finances and family relationships. Completed by parents during study participation.
20. Developmental milestones are documented through parent interview during study participation: Motor: age (months) at stable head control/sitting without support/walking alone/stands on one leg for some seconds/walks stairs without holding in, alternating language: age (months) vocalizes spontaneously/chains of syllables/mama, papa and one additional word/two-word sentences, identifies two pictures/four-word sentences. Completed at interview of parents during study participation.
21. Family interactions with healthcare system and care utilization: Age at first specialist visit, age at diagnosis therapies received, multidisciplinary evaluations, access to aids/support, social services and disability-related resources. Completed at interview of parents during study participation.