Growth patterns in children with spinal muscular atrophy

Orphanet Journal of Rare Diseases

卷:16

Claudio Bruno¹  Jonathan C. Wells²  Mary Fewtrell²  Ester Giaquinto³  Caterina Agosto⁴  Giorgio Bedogni⁵  Simone Ravella⁵  Andrea Foppiani⁵  Alberto Battezzati⁵  Alessandro Leone⁵  Simona Bertoli⁵  Ramona De Amicis⁵  Marina Pedemonte⁶  Chiara Mastella⁷  Giovanni Baranello⁸  Enrico Bertini⁹  Adele D’Amico⁹ 

[1] Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini;

[2] Childhood Nutrition Research Group, Population, Policy and Practice Research and Teaching Department, UCL Great Ormond Street Institute of Child Health;

[3] Dietetic and Nutrition Center, M. Bufalini Hospital;

[4] Dipartimento di Salute della Donna e del Bambino, Università di Padova;

[5] International Center for the Assessment of Nutritional Status (ICANS), Department of Food, Environmental and Nutritional Sciences (DeFENS), University of Milan;

[6] Pediatric Neurology and Muscle Disease Unit, IRCCS Istituto Giannina Gaslini;

[7] SAPRE-UONPIA, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico;

[8] UO Neurologia dello Sviluppo, Fondazione IRCCS Istituto Neurologico Carlo Besta;

[9] Unità di Malattie Neuromuscolari e Neurodegenerative, Laboratorio di Medicina Molecolare, Dipartimento di Neuroscienze e Neuroriabilitazione, IRCCS Ospedale Pediatrico Bambino Gesù;

关键词: Spinal muscular atrophy;    Growth;    Percentiles;    Nutritional status;   

DOI  :  10.1186/s13023-021-02015-9

来源: DOAJ

【 摘 要 】

Abstract Background Spinal muscular atrophy (SMA) is a neuromuscular disorder characterized by muscle atrophy and weakness. SMA type 1 (SMA1) is the most severe form: affected infants are unable to sit unaided; SMA type 2 (SMA2) children can sit, but are not able to walk independently. The Standards of Care has improved quality of life and the increasing availability of disease-modifying treatments is progressively changing the natural history; so, the clinical assessment of nutritional status has become even more crucial. Aims of this multicenter study were to present the growth pattern of treatment-naïve SMA1 and SMA2, and to compare it with the general growth standards. Results Body Weight (BW, kg) and Supine Length (SL, cm) were collected using a published standardized procedure. SMA-specific growth percentiles curves were developed and compared to the WHO reference data. We recruited 133 SMA1 and 82 SMA2 (48.8% females). Mean ages were 0.6 (0.4–1.6) and 4.1 (2.1–6.7) years, respectively. We present here a set of disease-specific percentiles curves of BW, SL, and BMI-for-age for girls and boys with SMA1 and SMA2. These curves show that BW is significantly lower in SMA than healthy peers, while SL is more variable. BMI is also typically lower in both sexes and at all ages. Conclusions These data on treatment-naïve patients point toward a better understanding of growth in SMA and could be useful to improve the clinical management and to assess the efficacy of the available and forthcoming therapies not only on motor function, but also on growth.

【 授权许可】

Unknown