This multinational European observational clinical study focuses on non-progressive congenital ataxia (NPCA), a very rare early-onset neurological condition also within the cerebral palsy (CP) concept as ataxic CP. The study aims to improve the diagnosis and care of affected children through a comprehensive approach that integrates detailed clinical assessments, brain imaging analyses, and advanced genetic testing. By identifying developmental trajectories, specific impairment profiles, brain MRI patterns, and genetic variants, the researchers aim to elucidate underlying mechanisms, origins and clinical heterogeneity of NPCA. The study also assesses the broader impact of the condition on the quality of life of affected children and the associated burden on their families. Preliminary data found a high prevalence of cognitive and neuropsychiatric impairments, and a frequent lack of identifiable brain lesions on MRI, raising the hypothesis of a strong genetic contribution.
Non-progressive congenital ataxia (NPCA), also known as ataxic cerebral palsy (CP), is a very rare (0.8 p 10.000 livebirths) early-onset motor disorder characterized by disordered muscular coordination, affecting the force, rhythm, and accuracy of movements. The ARTEMIS clinical study is a European multinational, multicentre, observational study, designed to study the natural history of NPCA, and investigate the clinical, neuroimaging, and genetic characteristics of NPCA. Its collects comprehensive data from children aged 5 to 8 years with a confirmed diagnosis according to the Surveillance of Cerebral Palsy in Europe (SCPE) definition from neonatal period (retrospective data collection) to time of assessment (5 to 8 years of age). The study involves reference centres across France, Belgium, Denmark, Germany, Greece, Norway, Hungary, and Sweden. The study aims to comprehensively characterize NPCA by assessing clinical impairments, developmental trajectories, brain MRI findings, and genetic data, while also evaluating children's quality of life, parental burden, and healthcare pathways.
Study Type
OBSERVATIONAL
Enrollment
50
KU Leuven
Leuven, Belgium
Aarhus University Hospital
Aarhus, Denmark
Toulouse University Hospital
Toulouse, France
University Hospital Tübingen
Tübingen, Germany
IASO Children's Hospital
Athens, Greece
Vestfold Hospital Trust
Tønsberg, Norway
Queen Silvia Children's Hospital at Sahlgrenska University Hospital
Gothenburg, Sweden
Characterization of NPCA/ataxic CP
Characterization of non-progressive congenital ataxia(NPCA)/ataxic cerebral palsy (CP) through integrated analysis of clinical features, brain imaging, and advanced genomic testing
Time frame: At time of clinical examination, between ages 5 and 8 years, and review of MRI and genetic findings
Clinical characterisation
Characterisation of ataxic features using the Scale for the Assessment and Rating of Ataxia (SARA) score Clinical assessment of ataxic and other motor features includes muscle tone, tremor, balance, spasticity, and dystonia. Evaluation with the (SARA), a validated tool with scores from 0 (no ataxia) to 40 (most severe).
Time frame: [Time Frame: At time of clinical assessment, between ages 5 and 8 years]
Cognition and neuropsychiatric features
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).
Time frame: [Time Frame: At time of clinical assessment, between ages 5 and 8 years]
Speech
Impairment profile: Speech is classified using the Viking Speech Scale (VSS) I-IV where level IV is the least functional level
Time frame: [Time Frame: At time of clinical assessment, between ages 5 and 8 years]
Communication
Impairment profile: Communication is classified using the the Communication Function Classification System (CFCS) I-V, where level V is the least functional level
Time frame: [Time Frame: At time of clinical assessment, between ages 5 and 8 years]
Gross motor function
Gross motor function is classified with the Gross Motor Function Classification System levels I-V, where level V is the least functional level
Time frame: At time of examination at 5 to 8 years of age
Fine motor function
Fine motor function is classified with the Bimanual Fine Motor Function classification (BFMF) levels I-V, where level V is the least functional level
Time frame: At time of examination at 5 to 8 years of age
Manual ability
Manual ability is classified with the Manual Ability Classification System (MACS) level I-V where level V is the least functional level
Time frame: At time of examination at 5 to 8 years of age
Epilepsy
Epilepsy type is documented Focal/generalized/multiple types
Time frame: [Time Frame: At time of clinical assessment, between ages 5 and 8 years]
Epilepsy characteristics
:Frequency of seizures last year Seizure-free/seldom or monthly/weekly or daily/cluster or unclear
Time frame: [Time Frame: At time of clinical assessment, between ages 5 and 8 years]
Epilepsy treatment
Antiseizure treatment is documented none/monotherapy/Polytherapy/other treatment (surgery, ketogenic diet, vagal nerve stimulation)
Time frame: [Time Frame: At time of clinical assessment, between ages 5 and 8 years]
Onset of epilepsy
Age at onset of epilepsy is documented During first year/second year/third year/fourth year/fifth year or later
Time frame: [Time Frame: At time of clinical assessment, between ages 5 and 8 years]
Visual impairment
Vision impairments are documented yes/no If yes: severe: yes/no Severe: \<0.1 (Decimal scale) in the better eye after correction
Time frame: [Time Frame: At time of clinical assessment, between ages 5 and 8 years]
Hearing impairment
Hearing impairments are documented yes/no If yes: severe yes/no Severe Hearing loss greater than 70 decibel (dB) before correction in the better ear
Time frame: [Time Frame: At time of clinical assessment, between ages 5 and 8 years]
Magnetic Resonance Imaging (MRI)
MRI analysis: neuroimaging classification and cerebral/cerebellar volumetry Systematic review of previously acquired (neonatal and/or postneonatal periods) brain MRIs. In the subgroup of children with normal images (group E of the Neonatal Neuroimaging Classification System and Magnetic Resonance Imaging Classification System), in addition cerebellar and cerebral volumetry compared to age- and sex-matched controls to identify structural correlates
Time frame: through study completion, an average of 1 year
Genomic analysis
Identification of 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.
Time frame: through study completion, an average of 1 year
Family interactions with healthcare system and care utilization
Parent questionnaire assessing the child's healthcare journey, including age at first specialist visit, therapies received, multidisciplinary evaluations, access to aids/support, social services, and disability-related resources.
Time frame: through study completion, an average of 1 year
Child´s quality of life (proxy-reported)
Child's quality of life (proxy-reported) using KIDSCREEN-27 Assessment of child's quality of life using the KIDSCREEN-27 questionnaire completed by parents. Includes five domains: physical well-being, psychological well-being, autonomy and parent relations, social support and peers, and school environment. Higher values indicate better quality of life. Population norm mean 50, sd 10.
Time frame: through study completion, an average of 1 year
Perceived family burden (parent report)
Family impact of Childhood Disability (+4) is used to report perceived burden related to time, stress, work, health, finances, and family relationships, assessing impact of child's disability on family well-being. Scores 10-40, higher scores indicate a higher impact on the family.
Time frame: through study completion, an average of 1 year
Parental psychological health (parent report)
Parental psychological health is reported using General Health Questionnaire (GHQ-12) Total score 0-36, higher results indicate that the parents experience psychological distress
Time frame: through study completion, an average of 1 year
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