52 research outputs found

    DQ and FSIQ range, mean and SD in A, B, C group.

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    <p><b>A group</b>: Patients with mutations upstream exon 44 (n 17), <b>B group</b>: Patients with mutations in exon 44–55 predicted to affect Dp140 (n19), <b>C group</b>: Patients with mutations downstream of exon 62, known to affect all the brain isoforms of dystrophin, including the lower molecular weight Dp71 isoform (n = 2).</p

    Implicit learning deficit in children with Duchenne muscular dystrophy: Evidence for a cerebellar cognitive impairment?

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    <div><p>This study aimed at comparing implicit sequence learning in individuals affected by Duchenne Muscular Dystrophy without intellectual disability and age-matched typically developing children. A modified version of the Serial Reaction Time task was administered to 32 Duchenne children and 37 controls of comparable chronological age. The Duchenne group showed a reduced rate of implicit learning even if in the absence of global intellectual disability. This finding provides further evidence of the involvement of specific aspects of cognitive function in Duchenne muscular dystrophy and on its possible neurobiological substrate.</p></div

    Individual details of imaging and PUL findings at shoulder, arm and forearm level.

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    <p>The shading reflects the severity of involvement with the score of 0 shown as a white cell, score of 1 as pale green, score of 2 as yellow, score of 3 as orange and score of 4 as red. The grade 2.5 was used to identify patients with 2b involvement. Del = deltoid; suprasp = supraspinatus; infrasp = infraspinatus; subscap = subscapularis; pec = pectoralis; corac = coraco-brachialis; serr = serratus anterior; lat = latissimus dorsi; bic = biceps brachii; brac = brachialis;tri = triceps brachii; sup = supinator;pron = pronator teres;F cp = flexor carpi radialis; palm = palmar; F ds = flexor digitorum superficialis; F cu = flexor carpi ulnaris; Fdp = flexor digitorum profundus; Anc = anconeus; E cu = extensor carpi ulnaris; Edm = extensor digiti minimi; E d = extensor digitorum; E cr = extensor carpi radialis; Br R = brachioradialis; F pl = flexor pollicis longus; E pl = extensor pollicis longus. Ambulant (E) = ambulant early; Ambulant (L): ambulant late; Non ambulant (E) = non ambulant early; Non ambulant (L): non ambulant late.</p

    T1-weighted axial MRI of the shoulder.

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    <p>T1-weighted axial MRI of the shoulder at the level of the humeral head (H) showing increased signal suggestive of fatty replacement in the muscles at this level. The involvement is milder in the youngest ambulant patients aged 10 and 11 (a and b respectively) with more evident fatty replacement in the subscapularis (arrowhead) and infraspinatus (arrow) and more marked in the older non-ambulant ones, both 17 years old (c and d), with severe involvement of all the muscles shown in image d.</p

    T1-weighted axial MRI of the forearm.

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    <p>T1-weighted axial MRI of the forearm at the level of the radial tuberosity showing increased signal suggestive of fatty replacement in the forearm muscles, especially in the supinator (arrow) and pronator teres (arrowhead). The involvement is milder in the youngest ambulant patients aged 8 and 14 (a and b respectively) and more marked in the older non-ambulant ones, both aged 17 (c and d), with severe involvement shown in image d. R (radius); U (ulna).</p
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