Publications of Aurore DARON
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See detailSitting in patients with spinal muscular atrophy type 1 treated with nusinersen.
Aragon-Gawinska, Karolina; Daron, Aurore ULiege; Ulinici, Ana et al

in Developmental medicine and child neurology (2019)

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 ... [more ▼]

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. [less ▲]

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See detailSentiment de présence et symptômes de cybermalaise dans une population d’enfants souffrant de maux de tête chroniques immergés en réalité virtuelle
Almeida Ribeiro, Magali ULiege; Bouchard, Stéphane; Dupuis, Gilles et al

Poster (2019, May 20)

Introduction : Le sentiment de présence et le cybermalaise sont des concepts clé en réalité virtuelle. Le sentiment de présence, c’est-à-dire la sensation psychologique d’être dans l’environnement virtuel ... [more ▼]

Introduction : Le sentiment de présence et le cybermalaise sont des concepts clé en réalité virtuelle. Le sentiment de présence, c’est-à-dire la sensation psychologique d’être dans l’environnement virtuel distingue la réalité virtuelle d’autres distractions possibles. La réalité virtuelle peut également causer des symptômes de cybermalaise qui s’apparentent aux malaises dus au mal des transports. Ces deux concepts sont des mécanismes sous-jacents au fonctionnement thérapeutique de la réalité virtuelle. Très peu d’études ont étudié l’efficacité de la réalité virtuelle sur le sentiment de présence et les cybermalaises des enfants, d’où l’intérêt de notre étude. Qu’en est-il de ces deux aspects lorsque le réalité virtuelle est combinée à un appareillage de biofeedback? Méthodologie : Un échantillon de 10 enfants ont complété différents questionnaires permettant de mesurer leur sentiment de présence après l’immersion et les symptômes de cybermalaise avant et après l’immersion. Cette étude s’inscrit dans une étude plus large qui consiste à tester le développement de compétences de relaxation chez des enfants migraineux via une intervention en réalité virtuelle combinée à un appareillage de biofeedback. L'intervention s'est déroulé une fois par semaine pendant 8 semaines. Pendant chaque séance, l'enfant s'exerçait à utiliser la technique de relaxation en réalité virtuelle. Résultats : Les moyennes du sentiment de présence des différents environnements sont satisfaisantes. Les différences des moyennes de cybermalaise avant et après immersion sont significatives mais les moyennes observées restent cependant basses. Discussion : L’utilisation de la réalité virtuelle couplée à un appareillage de biofeedback, dans une population d’enfants migraineux, semble adéquate au niveau du sentiment de présence et de cybermalaise. [less ▲]

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See detailX-linked myotubular myopathy: A prospective international natural history study.
Annoussamy, Melanie; Lilien, Charlotte; Gidaro, Teresa et al

in Neurology (2019), 92(16), 1852-1867

OBJECTIVES: Because X-linked myotubular myopathy (XLMTM) is a rare neuromuscular disease caused by mutations in the MTM1 gene with a large phenotypic heterogeneity, to ensure clinical trial readiness, it ... [more ▼]

OBJECTIVES: Because X-linked myotubular myopathy (XLMTM) is a rare neuromuscular disease caused by mutations in the MTM1 gene with a large phenotypic heterogeneity, to ensure clinical trial readiness, it was mandatory to better quantify disease burden and determine best outcome measures. METHODS: We designed an international prospective and longitudinal natural history study in patients with XLMTM and assessed muscle strength and motor and respiratory functions over the first year of follow-up. The humoral immunity against adeno-associated virus serotype 8 was also monitored. RESULTS: Forty-five male patients aged 3.5 months to 56.8 years were enrolled between May 2014 and May 2017. Thirteen patients had a mild phenotype (no ventilation support), 7 had an intermediate phenotype (ventilation support less than 12 hours a day), and 25 had a severe phenotype (ventilation support 12 or more hours a day). Most strength and motor function assessments could be performed even in very weak patients. Motor Function Measure 32 total score, grip and pinch strengths, and forced vital capacity, forced expiratory volume in the first second of exhalation, and peak cough flow measures discriminated the 3 groups of patients. Disease history revealed motor milestone loss in several patients. Longitudinal data on 37 patients showed that the Motor Function Measure 32 total score significantly decreased by 2%. Of the 38 patients evaluated, anti-adeno-associated virus type 8 neutralizing activity was detected in 26% with 2 patients having an inhibitory titer >1:10. CONCLUSIONS: Our data confirm that XLMTM is slowly progressive for male survivors regardless of their phenotype and provide outcome validation and natural history data that can support clinical development in this population. CLINICALTRIALSGOV IDENTIFIER: NCT02057705. [less ▲]

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See detailAmyotrophie spinale infantile (R)évolution thérapeutique
Daron, Aurore ULiege; DELSTANCHE, Stéphanie ULiege; Dangouloff, Tamara ULiege et al

in Revue Médicale de Liège (2019), 74(2), 82-85

Summary: Spinal muscular atrophy (SMA) is an auto-somal recessive neuromuscular disorder. The infantile form is the most common genetic cause of infantile death due to respiratory insufficiency. The ... [more ▼]

Summary: Spinal muscular atrophy (SMA) is an auto-somal recessive neuromuscular disorder. The infantile form is the most common genetic cause of infantile death due to respiratory insufficiency. The disorder is caused by the premature death of motor neurons of anterior horn, leading to progressive weakness and muscular atrophy. Longtime considered as untreatable, the pathology knew a real revolution during the last two years. Views on this terrible disease have completely changed, changing, therefore, the management of the patients and constituting new challenges. © 2019 Revue Medicale de Liege. All Rights Reserved. [less ▲]

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See detailBaseline characteristics of patients with centronuclear myopathy due to mutations in DNM2 gene enrolled in a European prospective natural history study
Annoussamy, M.; Grangé, A.; Lilien, C. et al

Poster (2018, October)

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See detailNusinersen in patients older than 7 months with spinal muscular atrophy type 1: A cohort study.
Aragon-Gawinska, Karolina; Seferian, Andreea M.; DARON, Aurore ULiege et al

in Neurology (2018), 91(14), 1312-1318

OBJECTIVE: To evaluate the safety and clinical efficacy of nusinersen in patients older than 7 months with spinal muscular atrophy type 1 (SMA1). METHODS: Patients with SMA1 were treated with nusinersen ... [more ▼]

OBJECTIVE: To evaluate the safety and clinical efficacy of nusinersen in patients older than 7 months with spinal muscular atrophy type 1 (SMA1). METHODS: Patients with SMA1 were treated with nusinersen by intrathecal injections as a part of the Expanded Access Program (EAP; NCT02865109). We evaluated patients before treatment initiation (M0) and at 2 months (M2) and 6 months (M6) after treatment initiation. Survival, respiratory, and nutritional data were collected. Motor function was assessed with the modified Hammersmith Infant Neurologic Examination Part 2 (HINE-2) and physiotherapist scales adjusted to patient age (Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders and the Motor Function Measure 20 or 32). RESULTS: We treated 33 children ranging in age from 8.3 to 113.1 months between December 2016 and May 2017. All patients were alive and were continuing treatment at M6. Median progress on the modified HINE-2 score was 1.5 points after 6 months of treatment (p < 0.001). The need for respiratory support significantly increased over time. There were no statistically significant differences between patients presenting with 2 and those presenting with 3 copies of the survival motor neuron 2 (SMN2) gene. CONCLUSIONS: Our results are in line with the phase 3 study for nusinersen in patients with SMA1 treated before 7 months of age and indicate that patients benefit from nusinersen even at a later stage of the disease. CLINICALTRIALSGOV IDENTIFIER: NCT02865109. CLASSIFICATION OF EVIDENCE: This study provides Class IV evidence that for patients with SMA1 who are older than 7 months, nusinersen is beneficial. [less ▲]

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See detailAssociations between NMR, electrophysiological, strength and function variables in SMA type 2 and 3
Hogrel, J.; Annoussamy, M.; Chabanon, A. et al

Poster (2018, October)

Detailed reference viewed: 17 (1 ULiège)
See detailTwo years, longitudinal data of the European prospective natural history study of patients with type 2 and 3 spinal muscular atrophy
Chabanon, A.; Annoussamy, M.; DARON, Aurore ULiege et al

Poster (2018, October)

Detailed reference viewed: 46 (3 ULiège)
See detailClinical changes over time in a European and North-American cohort of patients with X-linked Myotubular Myopathy
Annoussamy, M.; Lilien, C.; Gidaro, T. et al

Poster (2018, October)

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See detailTreatment by nusinersen in spinal muscular atrophy type 1 patients older than 7 months, 14 months follow-up
Aragon-Gawinska, K.; Seferian, A.; Vanden Brande, L. et al

Poster (2018, October)

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See detailProspective and longitudinal natural history study of patients with Type 2 and 3 spinal muscular atrophy: Baseline data NatHis-SMA study.
Chabanon, Aurelie; Seferian, Andreea Mihaela; DARON, Aurore ULiege et al

in PLoS ONE (2018), 13(7), 0201004

Spinal muscular atrophy (SMA) is a monogenic disorder caused by loss of function mutations in the survival motor neuron 1 gene, which results in a broad range of disease severity, from neonatal to adult ... [more ▼]

Spinal muscular atrophy (SMA) is a monogenic disorder caused by loss of function mutations in the survival motor neuron 1 gene, which results in a broad range of disease severity, from neonatal to adult onset. There is currently a concerted effort to define the natural history of the disease and develop outcome measures that accurately capture its complexity. As several therapeutic strategies are currently under investigation and both the FDA and EMA have recently approved the first medical treatment for SMA, there is a critical need to identify the right association of responsive outcome measures and biomarkers for individual patient follow-up. As an approved treatment becomes available, untreated patients will soon become rare, further intensifying the need for a rapid, prospective and longitudinal study of the natural history of SMA Type 2 and 3. Here we present the baseline assessments of 81 patients aged 2 to 30 years of which 19 are non-sitter SMA Type 2, 34 are sitter SMA Type 2, 9 non-ambulant SMA Type 3 and 19 ambulant SMA Type 3. Collecting these data at nine sites in France, Germany and Belgium established the feasibility of gathering consistent data from numerous and demanding assessments in a multicenter SMA study. Most assessments discriminated between the four groups well. This included the Motor Function Measure (MFM), pulmonary function testing, strength, electroneuromyography, muscle imaging and workspace volume. Additionally, all of the assessments showed good correlation with the MFM score. As the untreated patient population decreases, having reliable and valid multi-site data will be imperative for recruitment in clinical trials. The pending two-year study results will evaluate the sensitivity of the studied outcomes and biomarkers to disease progression. TRIAL REGISTRATION: ClinicalTrials.gov (NCT02391831). [less ▲]

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See detailDystonie de type 11 à début précoce
LEROY, Patricia; DARON, Aurore ULiege; DEPIERREUX, Frédérique ULiege

Conference (2017, March 25)

Description d'un cas de dystonie de type 11 (myoclonus-dystonia) à début précoce

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See detailSchizencephaly associated with a severe prothrombotic syndrome caused by antithombin III deficiency
DARON, Aurore ULiege; DRESSE, Marie-Françoise ULiege; Hoyoux, Claire ULiege et al

in Tijdschrift van de Belgische Kinderarts (2015), 17(1), 109

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See detailA novel CACNA1A mutation results in episodic ataxia with migrainous features without headache
MAGIS, Delphine ULiege; Boon, Elles; Coppola, Gianluca et al

in Cephalalgia (2012)

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See detailAspects neurologiques associés au Syndrome de Down
Vaessen, S.; DARON, Aurore ULiege; DUBRU, Jean-Marie ULiege et al

in Tijdschrift van de Belgische Kinderarts (2012), 14(2), 40-43

Summary : Down syndrome is one of best caracterized genetic syndromes. Its phenotype includes specific morphological features, mental retardation and several organic impairments such as cardiac ... [more ▼]

Summary : Down syndrome is one of best caracterized genetic syndromes. Its phenotype includes specific morphological features, mental retardation and several organic impairments such as cardiac malformations, cutaneous disorders and immunologic abnormalities. Beside these disturbances neurological disorders have been less considered or thought to be the expression of the mental retardation. However it is important to pay attention to the high incidence of epilepsy such as West syndrome in infants and “Late-Onset of myoclonic epilepsy in Down Syndrome” in the adult. They might required specific treatment. ADHD as well as autistic behavior may be difficult to diagnose especially in children with severe mental retardation. They need precise attention and rigourous follow-up of their treatment. [less ▲]

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See detailIntoxication au CO: Mouvements athétosiques
Mohring, M.-P.; Dadoumont, Caroline ULiege; DARON, Aurore ULiege et al

in Journal de Pédiatrie belge (2007)

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See detailA propos d'un cas d'hémiparésie aigue chez l'enfant
DARON, Aurore ULiege; Leroy, Patricia; Misson, Jean-Paul ULiege

in Percentile (2005), 10

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See detailEncéphalocéle frontoethimoidale: Encéphalite herpétique comme premier signe d'une méningite récurrente
Leroy, P.; DARON, Aurore ULiege; Weerts, E. et al

in Revista de Neurologia (2005)

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See detailIntoxicatin à la cyproheptadine: un cas clinique
Piette, Caroline ULiege; DARON, Aurore ULiege; Leroy, Patricia et al

Conference (2005)

Detailed reference viewed: 15 (2 ULiège)