With the advent of new treatments for ASI, new phenotypes are emerging. The investigators propose to describe these new phenotypes by prospectively following children with ASI of all types treated with TRS and aged under 16 for 2 years.
The investigators also propose to evaluate potential assessment tools to determine whether they are relevant for monitoring this population, either routinely or for future clinical trials. The investigators also aim to collect the total costs associated with ASI in order to propose a first prospective medico-economic study in France.
Genetically confirmed infantile or juvenile spinal muscular atrophy
Treated with a therapy that restores SMN protein expression (e.g. nusinersen, risdiplam, onasemnogene abeparvovec)
Aged 0 to 15 years inclusive
Informed consent signed by both parent(s)/legal guardian(s) and patient's assent
Other condition likely to interfere significantly with ASI assessment and clearly unrelated to the disease
Other associated neurological disease
Current pregnancy or breast-feeding (a pregnancy test will also be performed at inclusion).
Single group
evaluation of muscle function
Other interventionMyogrip (≥ 6 years): precise dynamometric measurement of gripping force, measuring force in Newton up to 90kg with 0.01kg resolution. It's evaluated at D0, M6, M12, M18, and M24 Myopinch (≥ 6 years) : measure thumb-index force up to 15 kg with a resolution of 0.001 kg using a precision sensor equipped with two steel distance blades. It's evaluated at D0, M6, M12, M18, and M24
First-line cognitive assessment
Other interventionVineland-II (All patients) : is a scale for assessing adaptive behaviors. will be carried out during the telephone call at M1/V2. All tests are evaluated at D0, and M18 : Bayley-4 language part (\< 42 months) PVSE (≥ 4 years) CELF-5 (≥ 5 years) Conners-3 (≥ 6 years) AQ (≥ 4 years), EQ (≥ 11 years) M-CHAT-R (\< 4 years) : SRS-2 (≥ 2 years)
second-line cognitive assessment
Other interventionIn the event of positive cognitive screening at D0 or M18, a second-line cognitive assessment will be carried out at a subsequent visit. A list of tests is proposed below, but will be adapted according to the tests available at each center. * EVALO BB (0-2 years) or EVALO (2-6 years) or full CELF-5 (5-18 years) following positive screening in the communication domain of first-line tests (Vineland II communication domain, Bayley 4, CELF-5 pragmatic profile) * FEE and DSM-5 diagnostic criteria for ADHD (from age 6 only) following positive screening in the attention and executive functions domain of first-line tests (Conners 3, BRIEF) * M-CHAT-R/F (\< 4 years) or SCQ (≥ 4 years) and ADOS-2 (≥ 12 years) following a positive screening in the area of social cognition and autistic traits on first-line tests (Vineland II, M-CHAT-R, SRS-2, EQ, AQ).
Cardiac evaluation
Other interventionAll tests are evaluated at D0, M12, and M24 : Electrocardiogram (ECG) : This examination will be carried out in accordance with the 12 leads recording the following parameters: verification of sinus rhythm, P wave, PR interval, QRS complex (interval), ST segment, T wave, QT complex, heart rate. Cardiac ultrasound: Non-invasive ultrasound will focus on the following parameters measured from 2-dimensional images, to look for cardiomyopathy and/or structural abnormality: * end-diastolic/end-systolic diameter/left ventricular ejection fraction * Septal wall thickness / left ventricular posterior wall * Fractional shortening 24-hour Holter-ECG : This examination consists of a continuous test recording the heart rhythm for 24 hours.
MRI
RadiationCerebral MRI : Performed at D0, only for patients with ASI type 1 ≥ 6 years, or younger patients for whom the investigator considers that the examination can be performed without sedation or general anesthesia. It will include sequences: * 3D T1, gradient echo, 1.1 mm voxel, sagittal acquisition * axial T2, spin-echo, slice thickness 4 mm * 3D FLAIR, spin-echo, 1 mm voxel, sagittal acquisition Muscular MRI: performed at V1/J0, and V6/M24. The examination will include water-fat imaging (Dixon) in full-body, 3D mode, with proton density weighting and millimeter resolution.
Assessment of activity and muscle fatigue
Other interventionSyde® : evaluated at D0, M6, M12, M24. Patients aged 2 and over will receive the Syde® wearable device to collect their daily activities. Muscular endurance tests (≥ 6 years) : evaluated at D0, M12, M24 ( only one of 3 tests based on motor function level) oESNHPT : In this test, patients are asked to walk a 10-meter path. oESBBT : In this test, patients have to move 10 blocks over a partition. oESWT: In this test, patients must repeatedly place and remove 9 sticks in 9 holes. PedsQL Fatigue (≥ 2 years): evaluated at D0, M12, M24. Scale designed to measure fatigue in patients with acute and chronic conditions, as well as in healthy school and community populations. Fatigue rating scale (≥ 6 years): evaluated at D0, M12, M24. The fatigue assessment scale has 11 numerical points ranging from 0 to 10. The patient is asked to give a rating that best reflects his or her perception of fatigue at that particular moment.
Assessment of bulbar function
Other interventionDDD-pNMD (≥ 2 years) : evaluated at D0, M6, M12, M18, and M24, is a list of 9 questions used by doctors to screen for dysphagia and dysarthria. NdSSS (All Patients) : evaluated at D0, M6, M12, M18, and M24, is an 8-level scale for assessing swallowing. TOMASS-c : (≥ 4 years of age, in patients able to eat solids safely, after assessment of the risk of a false route by the speech therapist): this is a score designed to assess mastication when eating a cracker. Age-dependent standards exist for different types of cracker. \- Fluid intake test (\> 110 cm, in patients able to drink a liquid safely, after assessment of the risk of a false route by the speech therapist): swallowing limit.
Evaluation of body composition and metabolism
Other interventionFood survey : The dietary survey questionnaire will be sent to parents at D0 and M18. Parents will be asked to complete it for 3 days before the M6 and M24. Bioelectrical impedancemetry: Evaluated at M6 and M24. Renal ultrasound: Evaluated at M6, is a non-invasive examination that analyzes the appearance of the kidney and urinary tract. Dual-energy X-ray absorptiometry (DXA) : Evaluated at M6, it measures body composition using spectral imaging, including fat mass, lean mass and bone mineral density. Fibroscan : Evaluated at M6 and M24. This examination uses pulse elastography to measure liver elasticity, which provides information on the presence of hepatic fibrosis, and sound attenuation, which provides information on the presence of liver fat overload. Indirect calorimetry : Evaluated at M6. This device enables precise measurement of Resting Energy Expenditure , Respiratory Quotient and metabolic substrate oxidation.
Questionnaires
Other interventionSMAIS : The questionnaire has been developed specifically for ASI. At D0, M6, M12, M18 and M24. HUI2 : specializes in preference-based measures of health-related quality of life. At D0, M6, M12, M18 and M24. Peds QL : is a modular instrument designed to measure health-related quality of life and disease-specific symptoms. At D0, M6, M12, M18 and M24. Neuromuscular module : 17 disease-related items. It is evaluated at D0, M6, M12, M18 and M24. Family impact module : It measures parents' reported physical, emotional, social and cognitive functioning, communication and concerns. At D0, M12, and M24. ASI cost questionnaire: At visit 1 (D0): This questionnaire, completed by the parents, includes information on occupation, parents' working hours and any reduction in them due to the child's pathology, the number of working days missed by the parents or school days missed by the child, and disability-related costs.
Biocollection
Biological/VaccineA blood bio collection (optional) will be offered to patients at D0, M6 , M12, M18, M24. Patients receiving intrathecal injections will also be offered the opportunity to participate in a CSF (cerebrospinal fluid) biocollection (optional).
Skinfold measurement
Other interventionThe tricipital point should be marked on the posterior aspect of the arm, on the midline of the tricipital muscle, midway between the acromion and the radius. At D0, M6, M12, M18 and M24
Markers of disease progression and description of different phenotypes, at : muscular and functional
A composite score indicating the overall motor development trajectory for patients from study inclusion to Month 24 (M24). Calculation: Assign numerical values or categories to represent the motor development stages, with higher scores indicating positive development and lower scores indicating decline.
Markers of disease progression and description of different phenotypes, at : muscular and functional
The trajectory of mean scores for motor function and muscle strength measured using CHOP-INTEND for patients aged 0-2 years. Scores are assessed every 6 months from inclusion (Day 0, Month 6, Month 12, Month 18, Month 24). Scale: CHOP-INTEND scale (0-64) Minimum Value: 0 Maximum Value: 64 Interpretation: Higher scores indicate improved motor function and muscle strength.
Markers of disease progression and description of different phenotypes, at : muscular and functional
Motor Function Measure 32 (MFM-32), is a quantitative scale created to measure global motor functional abilities in a person with neuromuscular disease. It contains 32 items, each marked from 0 to 3. The total score and the sub-scores are expressed as a percentage of the maximum possible score. Scale Range: 0 to 100 (Minimum to Maximum Values) Interpretation: Higher scores on the Motor Function Measure 32 (MFM-32) indicate improved motor function and muscle strength. The lower the total score, the more severe the impairment.
Markers of disease progression and description of different phenotypes, at : muscular and functional
Motor function and muscle strength: Trajectory of mean score between inclusion and M24: 6-minute walk test (≥ 6 years walking)
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