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Purpose: The availability of care recommendations has improved survival and delayed the progression of clinical signs in Duchenne muscular dystrophy. The aim of the study was to perform a nationwide survey investigating the prevalence, age distribution, and functional status of Duchenne muscular dystrophyin Italy., Methods: The survey was performed by collecting data from all 31 reference centers for Duchenne muscular dystrophy in Italy using a structured form. We assessed age distribution, motor function, and the need for respiratory and nutritional support to evaluate their prevalence in different age and functional subgroups., Results: The estimated prevalence was 1.65/100,000 (3.4/100,000 males). There were 972 boys and adults with a confirmed diagnosis of Duchenne, of age ranging between 6 months and 48 years (mean = 16.5). Over 59% were below the age of 18 years and the remaining 41% were adults. Over 43% were ambulant and 57% non-ambulant; 14.7% were steroids naive (mean 20.6 years), 75% are currently on steroids (mean 14.6 years) with 604 on the daily regime, 126 intermittent. Nearly 73% did not require any ventilatory support, 16% had NIV ≤ 12 h, 9% > 12 h, and 1.4% had a tracheostomy. More than 82% did not require any nutritional support, 13% required food modification/semisolid and 4.4% had a G-tube., Conclusions: Our findings provide information to be used not only for epidemiological purposes but also for possible trial design to include older non-ambulant patients who until recently have been excluded and for whom clinical information is limited. What is Known • Duchenne muscular dystrophy is a progressive disorder associated with reduced survival. • As part of the disorder there is also a progressive loss of important milestones, including loss of ambulation, and increased need for respiratory and nutritional support. What is New • Our nationwide survey provides prevalence, age distribution, and functional status for Duchenne muscular dystrophyin Italy including both boys and adults. • Our findings can be used for epidemiological purposes and for possible trial design., Competing Interests: Declarations. Ethics approval: This study was performed in line with the principles of the Declaration of Helsinki. Approval was granted by the Ethics Committee of the Catholic University of Rome. Consent to participate: Informed consent was obtained from all individual participants included in the study. Competing Interests: The authors declare no competing interests., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

The aim was to assess 3-year longitudinal data using 6MWT in 26 ambulant boys affected by DMD carrying nonsense mutations and to compare their results to other small mutations. We also wished to establish, within the nonsense mutations group, patterns of change according to several variables. Patients with nonsense mutations were categorized according to the stop codon type newly created by the mutation and also including the adjacent 5' (upstream) and 3' (downstream) nucleotides. No significant difference was found between nonsense mutations and other small mutations (p > 0.05) on the 6MWT. Within the nonsense mutations group, there was no difference in 6MWT when the patients were subdivided according to: Type of stop codon, frame status of exons involved, protein domain affected. In contrast, there was a difference when the stop codon together with the 3' adjacent nucleotide ("stop+4 model") was considered (p < 0.05) with patients with stop codon TGA and 3' adjacent nucleotide G (TGAG) having a more rapid decline. Our finding suggest that the stop+4 model may help in predicting functional changes. This data will be useful at the time of interpreting the long term follow up of patients treated with Ataluren that are becoming increasingly available., Competing Interests: Declaration of Competing Interest None., (Copyright © 2021. Published by Elsevier B.V.)

Objectives: The aim of the present study is to assess the psychometric properties of the Sleep Disturbance Scale for Children (SDSC) in an Italian population of infants and toddlers., Methods: The SDSC was distributed to the primary caregivers of infants aged 6-36 months recruited via nurseries in the urban area of Rome. Reliability analysis for evaluating internal consistency and item-total correlation coefficients, and factor analysis were performed., Results: During a 12-months study period, a total of 193 healthy infants (aged 6-36 months) were evaluated using a 22-item version of the SDSC for Italian infants and toddlers. Three of the 22 original items displayed a low item-total correlation (<30) and a low frequency and were eventually removed, resulting in a 19 items questionnaire. Six factors were derived from the factor analysis using the principal component method of extraction and rotated with the varimax method: Difficulty in initiating sleep, Difficulty in maintaining sleep, Sleep breathing disorders, Parasomnias, Disorders of excessive somnolence and Sleep hyperhidrosis. The SDSC adapted for infants and toddlers showed a good level of internal consistency (Cronbach's alpha: 0.83)., Conclusions: The statistical analysis, the internal consistency and the factor analysis encourage the use of SDSC as an evaluation tool even at this age. The six factors extracted represent the most common areas of sleep disorders at this age and could therefore help clinicians to detect the areas that need a deeper investigation., (Copyright © 2021 Elsevier B.V. All rights reserved.)

Objective: To evaluate the prevalence of joint laxity in children born preterm assessed in the first 2 years, the relationship between joint laxity and motor performance at preschool age, and possible changes over time in a subgroup of children followed longitudinally., Study Design: The revised scale of Beighton Score was used to evaluate joint laxity in a population of 132 preschool children born preterm between 24 and 32 weeks of gestational age. All were assessed for joint laxity between 12 and 24 months of age. Children also performed the Movement Assessment Battery for Children-Second Edition between the age of 3 years and 6 months and 4 years; the age at onset of independent walking also was recorded., Results: The total Beighton Score ranged between 0 and 8. Twenty percent of the cohort showed joint laxity. No differences related to sex or gestational age were observed. Children born preterm with joint laxity achieved later independent walking and achieved lower scores on Movement Assessment Battery for Children-Second Edition than those without joint laxity. In 76 children born preterm, an assessment for joint laxity was repeated once between 25 and 36 months and again after >36 months. No statistically significant difference was observed between the 3 assessments., Conclusions: The Beighton Score can be used to assess generalized joint laxity in children born preterm. As the presence of joint laxity influenced motor competences, the possibility to early identify these infants in the first 2 years is of interest to benefit from early intervention and potentially improve gross motor skills and coordination., (Copyright © 2018 Elsevier Inc. All rights reserved.)

Objective: To verify the value of early perceptual-motor assessment in preterms., Methods: The M-ABC2 was performed below the age 3 years-4 months and 1 year later., Results: At 4 years children showed a significant improvement in the scores and reduced rate of refusals., Conclusion: Early findings may be related to delayed maturation., (Copyright © 2014 Elsevier Ltd. All rights reserved.)

Background: The quality of general movements (GMs) and its predictive value have never been evaluated in late-preterm (LP) infants., Aims: To determine the characteristics of GMs and their predictive value for neurodevelopmental outcome in a cohort of infants born between 34 and 36 weeks' gestation., Study Design and Subjects: 574 LP infants were examined using the standard methodological principles of Prechtl's method for assessing GMs both during writhing and fidgety periods., Outcome Measures: Infants were assessed at 2 years of age with neuromotor and developmental scales., Results: A significant correlation was found between GMs and outcome both at writhing (rs 0.68; p < 0.001) and at fidgety age (rs 0.78; p < 0.001). The assessment at 1 month showed 100% sensitivity and 86% specificity of predicting the development of cerebral palsy (CP), that at 3 months was 100% sensitivity and 97% specificity., Conclusions: During the fidgety age GMs predict CP with very high sensitivity and specificity. The qualitative assessment of GMs should be employed to help identify LP infants who require early intervention for neurological abnormalities., (© 2013.)

Background: The Sleep Disturbance Scale for Children (SDSC) was originally validated on a sample of healthy children aged 6-16 years, investigating the occurrence of sleep disorders during the previous 6 months., Aims: The aim of this new study was to assess the psychometric properties of the SDSC in an Italian population of preschool children., Methods: The SDSC was distributed to the primary caregivers of children recruited via nurseries. Letters describing the study design and requesting the co-operation of the caregivers (parents) and co-signed by the investigators and by the head teacher were distributed with the questionnaire and collected by the teachers. Reliability analysis for evaluating internal consistency and item-total correlation coefficients, and factor analysis were performed., Results: During a 12-months study period, 601 questionnaires from healthy preschool age children (range 3-6 years) were collected. SDSC in preschool children showed a good level of internal consistency (Cronbach's alpha: 0.83) and six factors were derived from the factor analysis by using the principal component method of extraction and rotated with the varimax method: Parasomnias, Difficulty in initiating and maintaining sleep, Sleep disordered breathing, Disorders of excessive somnolence, Sleep hyperhydrosis and Non-restorative Sleep., Conclusions: The statistical analysis, the internal consistency and the factor analysis support the use of SDSC as an evaluation tool even at preschool age. A different factorial structure from the original SDSC was found due to a different prevalence of the sleep disturbances in younger children, but with similar cut-off total SDSC score., (Copyright © 2013 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.)