Correlation between specific Neurodevelopmental and Wechsler subquotients.

<p>Correlation between specific Neurodevelopmental and Wechsler subquotients.</p

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

<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

Mean and SD of specific Neurodevelopmental and Wechsler Subquotients.

<p>Mean and SD of specific Neurodevelopmental and Wechsler Subquotients.</p

Identification of asymmetrical muscle involvement in FSHD using different projections.

<p>(A–C) Monolateral atrophy of sternocleidomastoid muscle evident on sagittal and axial sections. Sagittal planes of sectioning used in our protocol were particularly useful to identify and to follow muscles across all their length thus providing a comprehensive assessment on their degree of involvement. (D–F) Coronal section (D) and two axial sections at different levels (E–F) showing asymmetric replacement of the serratus anterior, teres major and latissimus dorsi on one side. (G–I) Involvement of the superior portion of the right serratus anterior can be appreciated in all the three projections used. (J–K) Asymmetric replacement of levator scapulae with sparing of the contralateral on axial and corresponding coronal section. SCM: sternocleidomastoid; SA: serratus anterior; TM: teres major, LD: latissimus dorsi; LSc: levator scapulae.</p

Summary of muscle involvement in FSHD.

<p>(A) Percentage of involvement of the different muscles. White columns: unaffected; light gray columns: affected with score 1; dark gray columns: affected with score 2; black columns: affected with score 3. (B) Frequency of symmetrical and asymmetrical involvement of individual muscles across all the patients. White columns: unaffected; gray columns: affected symmetrically; black columns: affected asymmetrically. (C) Percentage of involvement on STIR sequences of T1-W normal (white) or abnormal (black) muscles.</p

Graphical representation of the distribution of muscle involvement across different disease severities.

<p>Patients are subdivided into 4 categories of severity according to the T1-MRI score values. The contribution of the progressive involvement of the different muscles to the T1-MRI score is represented as percentage of patients in whom each muscle is affected monolaterally (gray column) or bilaterally (black column) and mean score for each muscle (number on top of the columns).</p

T1-W MR images in FSHD patients with different disease severity.

<p>In patients with initial disease (A–C) the involvement is generally restricted to the trapezius and serratus anterior muscles, often asymmetrically. In moderately affected patients (D–F), a frequent combination is constituted by bilateral involvement of the trapezius, serratus anterior, pectoralis major and asymmetric rhomboids involvement. In more advanced disease (G–I), other muscles become involved but still with typical complete sparing of the supraspinatus, infraspinatus and subscapularis. T: trapezius; SA: serratus anterior; PM: pectoralis major; R: rhomboids; SSp: supraspinatus; ISp: infraspinatus; SSc: subscapularis.</p

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

<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

Average reaction times of correct responses of the two groups in all the five blocks of the SRTT.

<p>Vertical bars show standard deviation. *p<0.05 from the blocks.</p

Average reaction times of correct responses of the three groups in all the five blocks of the SRTT.

<p>Vertical bars show standard deviation. *p<0.05 from the blocks.</p