Matching pairs difficulty in children with spinal muscular atrophy type I

Published:February 15, 2017DOI:


      • A cognitive assessment task for children with SMA-I is proposed.
      • Children with SMA-I have difficulty matching pairs.
      • Children with SMA-I could respond with the eye tracker to the pair-matching tasks.


      This study aimed to investigate the performance on pair-matching tasks in children with Spinal Muscular Atrophy type I (SMA-I) and the relationship between this performance and motor function, functional independence and quality of life. SMA-I (n = 12; 6.0 ± 2.3 yrs; 9 boys, 3 girls) and control sex-, age-matched children (n = 12; 6.2 ± 2.6 yrs) performed four pair-matching figure, number and letter tasks. The eye tracker detected eye movements. SMA-I children were assessed with CHOP INTEND, Pediatric Evaluation of Disability Inventory, and Pediatric Quality of Life Inventory. Analysis of variance showed that SMA-I children had a lower percentage of correct answers and longer timed performance compared to controls (p < 0.05). Pediatric Evaluation of Disability Inventory score (social function domain) was correlated to the percentage of correct answers on the pair-matching tasks on task 1 (r = 0.81; p = 0.001) and task 2 (r = 0.66; p = 0.020). Pair-matching performance of SMA-I children was poorer than the performance of control children. There was a relationship between pair-matching performance and social function. The restricted interaction with the environment, due to severe paralysis and poor verbal communication, is associated with cognitive difficulties in SMA-I children. The eye tracker was helpful in cognitive assessment of SMA-I children, who responded to the cognitive tests with eye movements.


      To read this article in full you will need to make a payment

      Purchase one-time access:

      Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
      One-time access price info
      • For academic or personal research use, select 'Academic and Personal'
      • For corporate R&D use, select 'Corporate R&D Professionals'


      Subscribe to Neuromuscular Disorders
      Already a print subscriber? Claim online access
      Already an online subscriber? Sign in
      Institutional Access: Sign in to ScienceDirect


        • Arnold W.D.
        • Porensky P.N.
        • MCGovern V.L.
        • Iyer C.C.
        • Duque S.
        • Li X.
        • et al.
        Electrophysiological biomarkers in spinal muscular atrophy: preclinical proof of concept.
        Ann Clin Transl Neurol. 2013; 1: 34-44
        • Finkel R.S.
        • McDermott M.P.
        • Kaufmann P.
        • Darras B.T.
        • Chung W.K.
        • Sproule D.M.
        • et al.
        Observational study of spinal muscular atrophy type I and implications for clinical trials.
        Neurology. 2014; 83: 810-817
        • Montes J.
        • Glanzman A.M.
        • Mazzone E.S.
        • Martens W.B.
        • Dunaway S.
        • Pasternak A.
        • et al.
        Spinal muscular atrophy functional composite score: a functional measure in spinal muscular atrophy.
        Muscle Nerve. 2015; 52: 942-947
        • Wang C.H.
        • Finkel R.S.
        • Bertini E.S.
        • Schroth M.
        • Simonds A.
        • Wong B.
        • et al.
        Consensus statement for standard of care in spinal muscular atrophy.
        J Child Neurol. 2007; 22: 942-947
        • Finkel R.S.
        • Bertini E.
        • Muntoni F.
        • Mercuri E.
        • ENMC SMA Workshop Study Group
        209th ENMC International Workshop: outcome measures and clinical trial readiness in spinal muscular atrophy 7–9 November 2014, Heemskerk, The Netherlands.
        Neuromuscul Disord. 2015; 25: 593-602
        • Finkel R.S.
        • Weiner D.J.
        • Mayer O.H.
        • McDonough J.M.
        • Panitch H.B.
        Respiratory muscle function in infants with spinal muscular atrophy type I.
        Pediatr Pulmonol. 2014; 49: 1234-1242
        • Kubota M.
        • Sakakihara Y.
        • Uchiyama Y.
        • Nara A.
        • Nagata T.
        • Nitta H.
        • et al.
        New ocular movement detector system as a communication tool in ventilator-assisted Werdnig-Hoffmann disease.
        Dev Med Child Neurol. 2000; 42: 61-64
        • Qian Y.
        • McGraw S.
        • Henne J.
        • Jarecki J.
        • Hobby K.
        • Yeh W.
        Understanding the experiences and needs of individuals with spinal muscular atrophy and their parents: a qualitative study.
        BMC Neurol. 2015; 15: 217
        • Thuetell M.J.
        • Erik P.P.
        • Leigh R.J.
        Abnormal eye movements in Kennedy disease.
        Neurology. 2009; 72: 1528-1530
        • Townend G.S.
        • Marschik P.B.
        • Smeets E.
        • van de Berg R.
        • van den Berg M.
        • Curfs L.M.
        Eye gaze technology as a form of augmentative and alternative communication for individuals with Rett syndrome: experiences of families in the Netherlands.
        J Dev Phys Disabil. 2016; 28: 101-112
        • Billard C.
        • Gillet P.
        • Signoret J.L.
        • Uicaut E.
        • Bertrand P.
        • Fardeau M.
        • et al.
        Cognitive functions in Duchenne muscular dystrophy: a reappraisal and comparison with spinal muscular atrophy.
        Neuromuscul Disord. 1992; 2: 371-378
        • Billard C.
        • Gillet P.
        • Barthez M.-A.
        • Hommet C.
        • Bertrand P.
        Reading ability and processing in Duchenne muscular dystrophy and spinal muscular atrophy.
        Dev Med Child Neurol. 1998; 40: 12-20
        • von Gontard A.
        • Zerres K.
        • Backes M.
        • Laufersweiler-Plass C.
        • Wendland C.
        • Melchers P.
        • et al.
        Intelligence and cognitive function in children and adolescents with spinal muscular atrophy.
        Neuromuscul Disord. 2002; 12: 130-136
        • Rivière J.
        • Lécuyer R.
        Spatial cognition in young children with spinal muscular atrophy.
        Dev Neuropsychol. 2002; 21: 273-283
        • Dunaway S.
        • Montes J.
        • O'Hagen J.
        • Sproule D.M.
        • De Vivo D.C.
        • Kaufmann P.
        Independent mobility after early introduction of a power wheelchair in spinal muscular atrophy.
        J Child Neurol. 2012; 28: 576-582
        • Oudgenoeg-Paz O.
        • Rivière J.
        Self-locomotion and spatial language and spatial cognition: insights from typical and atypical development.
        Front Psychol. 2014; 5: 521
        • D'Angelo M.G.
        • Bresolin N.
        Cognitive impairment in neuromuscular disorders.
        Muscle Nerve. 2006; 34: 16-33
        • CIVIAM
        Tobii PC eye to go: control the computer with your eyes [Tobii PC eye to go: controle o computador com os olhos].
        (Available from:) ([Accessed 20 September 2013])
        • Munsat T.L.
        • Davies K.E.
        International SMA consortium meeting 26–28 June 1992, Bonn, Germany.
        Neuromuscul Disord. 1992; 2: 423-428
        • Glanzman A.M.
        • Mazzone E.
        • Main M.
        • Pelliccioni M.
        • Wood J.
        • Swoboda K.J.
        • et al.
        The Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND): test development and reliability.
        Neuromuscul Disord. 2010; 20: 155-161
        • Feldman A.B.
        • Haley S.M.
        • Coryell J.
        Concurrent and construct validity of the Pediatric Evaluation of Disability Inventory.
        Phys Ther. 1990; 70: 602-610
        • Davis S.E.
        • Hynan L.S.
        • Limbers C.A.
        • Andersen C.M.
        • Greene M.C.
        • Varni J.W.
        • et al.
        The PedsQL in pediatric patients with Duchenne muscular dystrophy: feasibility, reliability, and validity of the Pediatric Quality of Life Inventory Neuromuscular Module and generic core scales.
        J Clin Neuromuscul Dis. 1998; 11: 97-109
        • Iannaccone S.T.
        • Hynan L.S.
        • Morton A.
        • Buchanan R.
        • Limbers C.A.
        • Varni J.W.
        The PedsQLTM in pediatric patients with spinal muscular atrophy: feasibility, reliability, and validity of the Pediatric Quality of Life InventoryTM Generic Core Scales and Neuromuscular Module.
        Neuromuscul Disord. 2009; 19: 805-812
        • Kaufmann P.
        • McDermott M.P.
        • Darras B.T.
        • Finkel R.S.
        • Sproule D.M.
        • Kang P.B.
        Prospective cohort study of spinal muscular atrophy types 2 and 3.
        Neurology. 2012; 79: 1889-1897
        • Winter J.C.F.
        Using the Student's t-test with extremely small sample sizes.
        Pract Assess Res Eval. 2013; 18: 1-12
        • Roland P.E.
        • Zilles K.
        Structural divisions and functional fields in the human cerebral cortex.
        Brain Res Brain Res Rev. 1998; 26: 87-105
        • Pashler H.
        Dual-task interference in simple tasks: data and theory.
        Psychol Bull. 1994; 116: 220-244
        • Dishion T.J.
        Social influences on executive functions development in children and adolescents: steps toward a social neuroscience of predictive adaptive responses.
        J Abnorm Child Psychol. 2016; 44: 57-61
        • Kocova H.
        • Dvorackova O.
        • Vondracek P.
        • Haberlova P.
        Health-related quality of life in children and adolescents with spinal muscular atrophy in the Czech Republic.
        Pediatr Neurol. 2014; 50: 591-594