Aim To determine factors associated with acquisition of a sitting position in patients with spinal muscular atrophy type 1 (SMA1) treated with nusinersen. Method Using data from the registry of patients with SMA1 treated with nusinersen, we compared the subgroups of sitters and non‐sitters after 14 months of therapy as a function of baseline level, SMN2 copy number, age at treatment initiation, and improvement at 2 and 6 months post‐treatment initiation. We used Hammersmith Infant Neurological Examination, Section 2 (HINE‐2) and Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders for motor evaluation. Results Fifty children (22 females, 28 males), mean age 22 months (SD 20.7; range 2.5–102.8mo) were treated. Data on sitting position acquisition were collected for 47 patients at month 14. Fifteen patients were able to sit unassisted; 11 of 15 had a baseline HINE‐2 score of at least 2 points and 11 of 14 had an improvement over baseline of at least 2 points at month 6. Patients who improved by 2 or more points at month 6 were three times more likely to be sitters at month 14 than those who did not. Interpretation High baseline motor function and improvement in HINE‐2 score after 6 months of treatment are associated with the probability of acquiring a sitting position in patients with SMA1 treated with nusinersen. What this paper adds Fifteen of 47 patients with spinal muscular atrophy could sit unaided 14 months after treatment with nusinersen. The number of SMN2 copies were not predictive of acquisition of a sitting position. Baseline condition and clinical response after 6 months of treatment were most predictive of sitting position acquisition.

Background Normative data are necessary for validation of new outcome measures. Recently, the 95th centile of stride speed was qualified by the European Medicines Agency as a valid secondary outcome for clinical trials in subjects with Duchenne muscular dystrophy. This study aims to obtain normative data on spontaneous stride velocity and length in a non-controlled environment and their evolution after 12 months. Method Ninety-one healthy volunteers (50 females, 41 males), with a mean age of 16 years and 2 months, were recruited and assessed at baseline and 12 months later. The 4-stair climb, 6-min walk test, 10-m walk test and rise from floor assessments were performed. Stride length, stride velocity, and the distance walked per hour were studied in an everyday setting for one month after each evaluation. Results Of the 91 subjects assessed, 82 provided more than 50 h of recordings at baseline; and 73 subjects provided the same at the end of the year. We observed significant positive correlations of the stride length with age and height of participants, and a significant increase of the median stride length in children after the period. In this group, the 95th centile stride velocity was not correlated with age and was stable after one year. All measures but the 10MWT were stable in adults after a one-year period. Conclusion This study provides with data on the influence of age, height, and gender on stride velocity and length as well as accounting for natural changes after one year in controls.

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Paralizia cerebrală (PC) este o boală cerebrală cronică, definită ca un grup de afecţiuni motorii neprogresive care debutează în primul an de viaţă şi care sunt secundare leziunilor survenite la un creier aflat în dezvoltare. La vârsta pediatrică este principala cauză a tulburărilor motorii severe şi invalidante. Obiectivul lucrării. Încadrarea comparativă în diverse grade de severitate a PC la copil aplicând cele două clasificări: Sistemul de Clasificare a Funcţiei Motorii Grosiere (Gross Motor Function Classification System – GMFCS) şi Sistemul de Clasificare a Abilităţii Manuale (Manual Ability Classification System – MACS). Material şi metodă. Grupul de studiu a cuprins 129 de copii (43 de fete şi 86 de băieţi), cu vârste cuprinse între 2-18 ani, diagnosticaţi cu diferite forme de PC. Protocolul de studiu a inclus examen clinic general şi examen neurologic. Rezultate. Dintre pacienţii cu PC urmăriţi, 24 (18,60%) au fost încadraţi la gradul I atât în clasificarea GMFCS, cât şi în MACS. De asemenea, dintre cei 69 de copii care puteau merge independent (GMFCS I+II), 60 aveau dexteritate manuală bună sau foarte bună (MACS I+II). În formele severe de PC (GMFCS V), 32/35 bolnavi nu puteau mânui obiectele fiind încadraţi în MACS V şi 3 puteau manipula numai anumite obiecte, fiind incluşi în MACS IV. Concluzii. Funcţia motorie grosieră şi abilitatea manuală evoluează pe paliere diferite de gravitate în funcţie de tipul PC. În PC diskinetică, ataxică şi mixtă, s-a remarcat o mai mare corespondenţă între gradele de severitate conturate de cele două clasificări.

Meduloblastomul este o tumoră neuroectodermică primitivă întâlnită frecvent la vârsta pediatrică, cu incidenţă maximă între 5 şi 10 ani. Tumora este localizată în general la nivelul vermisului sau ventriculului IV invadând emisferele cerebeloase. Tabloul clinic este dominat de semne de hipertensiune intracraniană şi ataxie cerebeloasă. Explorările neuroimagistice contribuie la o diagnosticare şi stadializare cât mai precisă a meduloblastomului. Tratamentul este complex cuprinzând rezecţia chirurgicală a tumorii urmată de radio/chimioterapie. Prognosticul este în general rezervat, incidenţa sechelelor neurologice după tratament fiind crescută.

Medulloblastoma is a primitive neuroectodermal tumor commonly seen in pediatric age, with peak incidence between 5 and 10 years. The tumor is generally located in the vermis or cerebellar hemispheres invading IV ventricle. Symptomatology is dominated by signs of intracranial hypertension and cerebellar ataxia. Neuroimaging explorations contributes to diagnosis and more precise staging medulloblastoma. The treatment is complex including surgical resection of the tumor followed by radiotherapy and chemotherapy. The prognosis is generally reserved, incidence of neurological sequelae after treatment is high.

Neuromuscular Disorders 31 (2021) S47-S162 iterative process to expand the current DMD dataset to 1) capture realworld safety and effectiveness of emerging therapies; 2) capture the patient voice; 3) understand the landscape for methodically capturing participation; and 4) align with the global TREAT-NMD expanded dataset. Initially, a survey framework based on the TREAT-NMD expanded DMD dataset was utilized to rank dataset items for inclusion in the CNDR. The survey was broadly distributed to health care providers within the CNDR network, as well as patient organization partners. The survey was then followed by a consensus meeting with the CNDR DMD working group to finalize the proposed dataset. In order to ensure the dataset aligned with stakeholder needs, patient organization partners were then re-engaged in discussions regarding data items. Lastly, the finalized draft dataset was circulated to pharmaceutical partners for feedback. Importantly, the DMD dataset was mapped across the ICF domains of body function and structure, activities, and participation to ensure a robust global picture of living with Duchenne in Canada. The CNDR captures a comprehensive DMD dataset to evaluate long-term real-world patient-focused experience with available and emerging therapies.

Cerebral palsy (CP) is a chronically cerebral disease, which is defined like a group of non-progressives motor diseases that onset in the first year of life and are the secondary lesions for a developed brain. At pediatric age CP is the most frequent cause of severe and infirmity motor problems. Aim of the study. Comparative framing in various degrees of severity for CP at child applying two classifications: Gross Motor Function Classification System (GMFCS) and Manual Ability Classification System (MACS). Material and Methods. The study group included 129 children (43 girls and 86 boys) aged 2-18 years, diagnosed with various forms of CP. The study protocol included general clinical examination, neurological exam. Results. Of patients with CP watch, 24 (18,60%) were employed in both the grade I classification GMFCS and MACS. Also, of the 69 children who could walk independently (GMFCS I+II), 60 had good manual dexterity or very good (MACS I+II). Of the 35 patients with severe forms of PC (GMFCS V), 32 could not wield the objects being impressed into MACS V and 3 could handle only certain items being included in MACS IV. Conclusions. The gross motor function and the manual ability evolve on different levels of severity depending on type of CP. In diakinetic CP, ataxic CP and mixed forms of CP was noticed a higher correlation between the grades of the two classifications.