Language Development in Preschool Duchenne Muscular Dystrophy Boys

Background: the present study aims to assess language in preschool-aged Duchenne muscular dystrophy (DMD) boys with normal cognitive quotients, and to establish whether language difficulties are related to attentional aspects or to the involvement of brain dystrophin isoforms. Methods: 20 children aged between 48 and 72 months were assessed with language and attention assessments for preschool children. Nine had a mutation upstream of exon 44, five between 44 and 51, four between 51 and 63, and two after exon 63. A control group comprising 20 age-matched boys with a speech language disorder and normal IQ were also used. Results: lexical and syntactic comprehension and denomination were normal in 90% of the boys with Duchenne, while the articulation and repetition of long words, and sentence repetition frequently showed abnormal results (80%). Abnormal results were also found in tests assessing selective and sustained auditory attention. Language difficulties were less frequent in patients with mutations not involving isoforms Dp140 and Dp71. The profile in Duchenne boys was different form the one observed in SLI with no cognitive impairment. Conclusion: The results of our observational cross-sectional study suggest that early language abilities are frequently abnormal in preschool Duchenne boys and should be assessed regardless of their global neurodevelopmental quotient

Synthesis of hydroxystilbenes and their derivatives via Heck reaction

A group of differently substituted acetoxy- and methoxystilbenes were synthesised via Heck reaction. A comparison between the use - as coupling reagents - of iodobenzene derivatives and diazonium salts was performed. A successful microwave-assisted demethylation by pyridine hydrochloride of some methoxystilbenes was carried out

Do shyness and impulsivity differently relate to delay tolerance in early childhood?

Inhibitory control represents the ability to inhibit a dominant response while achieving some goals (e.g., Rothbart & Bates, 2006). Precocious signs of inhibitory control occur early, around 6 and 12 months of age, even though important improvements emerge later, between 3 and 6 years of age (Kochanska et al., 2001). In their model, Rothbart and colleagues distinguished between two temperamental aspects of control: a) inhibitory control refers to voluntary regulation of behaviour, whereas b) reactive approach (e.g., impulsivity) and reactive inhibition (e.g., shyness) refer to involuntary control of behaviour. Extent research has found negative relations between children’s inhibitory control and reactive approach. More unclear is the relation between inhibitory control and reactive inhibition, with someone finding a positive relation, in contrast to others who found a negative association (see Aksan & Kochanska, 2004; Eisenberg et al., 2010). Delay tolerance, defined as the ability to postpone gratification, is considered a good indicator of children’s inhibitory control. In this study, we aimed to investigate the relation between children’s reactive approach and reactive inhibition and delay tolerance in two different age groups. Sample 1 included 74 children (M = 35.05, SD = 3.57; 30 boys) and Sample 2 included 69 children (M = 65.14, SD = 6.24; 37 boys). For both samples, parents completed some subscales (Shyness, Fear, Impulsivity, and Anger/Frustration) of the Children’s Behavior Questionnaire (CBQ), and children were tested in a delay task (i.e., one different task for each sample). Hierarchical regressions, with CBQ’s subscales as IVs and scores in delay tasks as DVs, showed that, only for younger children (Sample 1), shyness and impulsivity were differently related to delay tolerance. Children’s shyness was positively associated with delay tolerance even controlling for fear, age, and gender (β = .43, p < .01). In contrast, controlling for anger/frustration, age, and gender, impulsivity was negatively related to delay tolerance (β = -.47, p < .01). No significant relations were found in older children (Sample 2). Overall, shyness seems to facilitate younger children to wait longer to obtain a gratification. This may be particularly important for children’s transition to preschool, which includes specific delay activities (e.g., getting in line to go outside). For older children, when inhibitory control should be better developed, delay tolerance may benefit from the acquisition of other important abilities, such as internalization of a rule (i.e., the ability to comply with adults’ demands without surveillance; Kochanska et al., 2010)

Longitudinal Motor Functional Outcomes and Magnetic Resonance Imaging Patterns of Muscle Involvement in Upper Limbs in Duchenne Muscular Dystrophy

Background and Objectives: The aim of this study was to evaluate longitudinal changes using both upper limb muscle Magnetic Resonance Imaging (MRI) at shoulder, arm and forearm levels and Performance of upper limb (PUL) in ambulant and non-ambulant Duchenne Muscular Dystrophy (DMD) patients. We also wished to define whether baseline muscle MRI could help to predict functional changes after one year. Materials and Methods: Twenty-seven patients had both baseline and 12month muscle MRI and PUL assessments one year later. Results: Ten were ambulant (age range 5–16 years), and 17 non ambulant (age range 10–30 years). Increased abnormalities equal or more than 1.5 point on muscle MRI at follow up were found on all domains: at shoulder level 12/27 patients (44%), at arm level 4/27 (15%) and at forearm level 6/27 (22%). Lower follow up PUL score were found in 8/27 patients (30%) at shoulder level, in 9/27 patients (33%) at mid-level whereas no functional changes were found at distal level. There was no constant association between baseline MRI scores and follow up PUL scores at arm and forearm levels but at shoulder level patients with moderate impairment on the baseline MRI scores between 16 and 34 had the highest risk of decreased function on PUL over a year. Conclusions: Our results confirmed that the integrated use of functional scales and imaging can help to monitor functional and MRI changes over time

A Longitudinal Follow-Up Study of Intellectual Function in Duchenne Muscular Dystrophy over Age: Is It Really Stable?

The aim of the study was to retrospectively evaluate the consistency of longitudinal findings on intellectual functioning in DMD boys and their relationship to behavioral and neuropsychiatric difficulties. The cohort included 70 patients of age 3 to 17 years with at least two assessments using the Wechsler scales. CBCL and clinical observation of behavior were also performed. Changes in total intelligence quotient were interpreted as stable or not stable using the reliable-change method. On the first assessment 43/70 had normal quotients, 18 borderline, 5 mild, and 4 moderate intellectual disability, while 27/70 had no behavioral disorders, 17 had abnormal CBCL, and 26 patients had clear signs of attention deficits despite normal CBCL. The remaining seven were untestable. The mean total intelligence quotient change in the cohort was −2.99 points (SD: 12.29). Stable results on TIQ were found in 63% of the paired assessments. A third of the consecutive cognitive assessments showed a difference of more than 11 points with changes up to 42 points. Boys with no behavioral/attention disorder had smaller changes than those with attention (p = 0.007) and behavioral disorders (p = 0.002). Changes in IQ may occur in Duchenne and are likely to be associated with behavioral or attention deficits

Oral and Swallowing Abilities Tool (OrSAT) in nusinersen treated patients

Introduction The aim of the study was to longitudinally assess swallowing abilities in nusinersen-treated patients with type 1 spinal muscular atrophy. Methods Twenty infants with type 1 SMA (11 female and 9 male) treated with nusinersen between 3 weeks and 15 months of age, were assessed using the Oral and Swallowing Abilities Tool (OrSAT). The duration of the follow-up after treatment ranged between 12 months and 62 months. Results Twelve of the 20 infants had normal swallowing and there was no need for tube feeding at the time treatment started. Ten of the 12 had consistently normal swallowing with no need for tube feeding on follow-up. The other two required tube feeding but they regained the ability to eat some food by mouth. The remaining 8 infants already had tube feeding inserted at the time treatment started: 4 of them also had tracheostomy and they showed no changes on the OrSAT Scale. The other 4 who had tube feeding but no tracheostomy had partial functional improvement. Conclusion Our results suggest that the degree of functional impairment at the time treatment is started can help to predict the progression of swallowing abilities. The use of a structured assessment also helped to detect partial improvements.New interventions have radically altered the natural history of Spinal Muscular Atrophy. In this report, oral and swallowing outcomes are report following interventions, widening our understanding of the potential benefits of early treatment

T1-weighted axial MRI of the shoulder.

<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