https://hdl.handle.net/10807/200 2026-05-13T19:42:48Z 2026-05-13T19:42:48Z https://hdl.handle.net/10807/335683 2026-05-13T16:31:41Z 2025-01-01T00:00:00Z

Titolo: Neurodevelopmental and mental disorders in children with type I and presymptomatic spinal muscular atrophy Autori: Buchignani B.; Coratti G.; Cutri C.; Scattoni M. L.; Pane M.; Palermo C.; Leone D.; De Sanctis R.; Stanca G.; Antonaci L.; Cutrona C.; Pera M. C.; Brogna C.; Cristofani P.; Fulceri F.; Baranello G.; Mercuri E. Abstract: The advent of disease modifying therapies in spinal muscular atrophy (SMA) has increased life expectancy but also raising new challenges. We aimed to explore the neurobehavioral profile in SMA type I subjects and in those identified by newborn screening (NBS). Behavioral assessment included screening questionnaires (strengths and difficulties questionnaire (SDQ), social communication questionnaire (SCQ), and sensory profile 2 (SP2)), neurobehavioral observation, CARS2 and DSM-5 criteria. The cohort included thirty-one children (25 type I and 6 NBS) aged 2–10 years. On SDQ prosocial scale, 14/31 showed borderline or abnormal results. 6/14 had borderline scores at the SCQ questionnaire, while none had abnormal scores. Neurobehavioral observation suggested the presence of ASD in 3/31, confirmed by CARS2 and DSM-5 criteria. 5/31 showed other behavioral disorders. Our findings suggest that autism is present in SMA infants in a percentage slightly higher than in the general population. Other neurobehavioral difficulties are less frequent. Our study highlighted the challenges to select appropriate tools in infants with limited mobility and the need for a clear diagnostic pathway, starting with screening questionnaires followed by more appropriate diagnostic tools to reduce the number of false positive results.

2025-01-01T00:00:00Z https://hdl.handle.net/10807/335682 2026-05-13T16:31:43Z 2026-01-01T00:00:00Z

Titolo: Refining functional phenotypes in an international cohort of untreated paediatric type 2 and 3 SMA patients using the Revised Hammersmith Scale Autori: Milev E.; Stimpson G.; Ramsey D.; Mayhew A.; Scoto M.; Baranello G.; Muni Lofra R.; O'Reilly E.; Amy W.; Main M.; Mazzone E. S.; Montes J.; Glanzman A. M.; Pasternak A.; Duong T.; Civitello M.; Coratti G.; Marini-Bettolo C.; Day J.; Darras B. T.; De Vivo D.; Finkel R. S.; Mercuri E.; Muntoni F. Abstract: Spinal muscular atrophy types 2 and 3 encompass a wide spectrum of motor abilities ranging from non-sitting to sitting and walking. This study refines a functional group termed high functioning sitter-standers, positioned between traditional categories, and examined in relation to both the Revised Hammersmith Scale and a World Health Organization motor milestone-based framework. Among 178 participants completing 618 assessments, 109 were classified as type 2, 59 as type 3a, and 10 as type 3b, with ages ranging from 1 to 17.5 years. Twenty-seven non-sitters completed 54 assessments, 110 sitters completed 347, and 50 walkers completed 169, while the high functioning sitter-standers accounted for 48 assessments of 21 individuals. This newly defined group scored significantly lower than walkers and higher than both sitters and non-sitters, highlighting a distinct and measurable functional profile. Although no significant differences in age distribution were observed between the high functioning sitter-standers and walkers or non-sitters, sitters were notably younger. This intermediate phenotype captures patients with partial standing and assisted walking abilities, often overlooked in previous analyses. Recognition of this group is important for understanding emerging functional trajectories in treated spinal muscular atrophy and for informing future outcome measures and quality of life assessments.

2026-01-01T00:00:00Z https://hdl.handle.net/10807/335681 2026-05-13T16:31:45Z 2025-01-01T00:00:00Z

Titolo: Application of the neonatal ‘floppy module’ to older infants: can it be used for differential diagnosis? Autori: Cutrona C.; Sbarbati M.; Malaspina M.; Velli C.; Sini F.; Onesimo R.; Coratti G.; Romeo D.; Pane M.; Mercuri E. Abstract: In this study we applied the ‘floppy module’, originally developed for newborns with hypotonia, to older infants in order to establish the range of findings in both low-risk infants and in those with hypotonia due to different etiologies. Data were collected from 413 assessments obtained in 159 low-risk infants assessed at different ages between the age of 3 and 24 months. The distribution of findings in the low-risk infants was similar to the data previously obtained in low-risk newborns, with all assessments having optimal findings (column 3) on all items. The only item with a small number of findings outside column 3 was tendon reflexes. The module was also applied to a cohort of 57 infants with hypotonia older than 3 months in order to identify individual items that may be useful in differential diagnosis. Items assessing antigravity movements were the most sensitive to identify neuromuscular disorders. Dysmorphic features and other organ involvement were most suggestive of genetic disorder, while seizures were a reliable indicator of CNS involvement. Conclusion: Our findings suggest that the neonatal floppy module can be reliably administered also in infants from the age of 3 months. The pilot application of the module in infants with hypotonia from the age of 3 months also suggested that the module could be used to help the clinician in the differential diagnosis of infants with hypotonia. (Table presented.)

2025-01-01T00:00:00Z https://hdl.handle.net/10807/335680 2026-05-13T16:31:43Z 2026-01-01T00:00:00Z

Titolo: Vertebral fractures and muscle function in glucocorticoid-treated individuals with Duchenne muscular dystrophy: a cohort study Autori: Capasso A.; Arpaia C.; Panicucci C.; Gulli C.; Villa M.; Repetto A.; Coratti G.; Morando S.; Cicala G.; Oliva A.; Milardi D.; Cipolla C.; Catapano G.; Marzoli A.; Damasio M. B.; Brogna C.; Palermo C.; Di Iorgi N.; Bruno C.; Ficociello L.; Gaudino S.; Pane M.; Ward L. M.; Mercuri E. Abstract: Summary: Brief rationale: To investigate vertebral fracture and risk factors in DMD. Main results: Vertebral fractures were found in 42% of subjects with an increased risk associated with low TB BMD, early steroid exposure and low BMI. Significance of the paper: Bone health monitoring should start early, regardless of functional status. Purpose: To describe the prevalence of vertebral fractures (VFs) in Duchenne Muscular Dystrophy (DMD) and to establish the role of several risk factors, focusing on ambulatory status and functional motor scores (Performance Upper Limb, North Star Ambulatory Assessment) not previously assessed. Methods: We recorded the number and site of fractures together with anthropometric, radiological (total body bone mineral density (TB BMD) Z-scores measured by Dual Energy X-ray Absorptiometry (DXA)), and functional scales. Logistic and linear regression analyses were conducted to identify factors associated with prevalent VFs and predictors of Spinal Deformity Index (SDI). Results: Of the 149 individuals (7–26 years) studied, 62 (42%) had VFs. These were equally present in ambulant and non-ambulant individuals (41 vs 42%) and were not associated with functional scores. The TB BMD Z-score was a protective factor both in non-ambulant and ambulant subgroups. Lower TB BMD Z-scores were also predictive of a greater SDI. In the ambulant subgroup a lower BMI reduced the risk of VF. In the overall cohort, each one-year delay in starting glucocorticoids reduced the risk of VFs by 27% (p = 0.007), and each additional unit in TB BMD Z-score reduced the risk of VFs by 54% (p = 0.0007). Conclusion: Our results suggest that ambulatory status and functional scores alone may not be reliable predictors for developing VFs and confirm the association with known risk factors, such as early initiation of glucocorticoid therapy and low BMD Z-scores, highlighting the need to guarantee a careful surveillance of possible VFs from the time of glucocorticoid initiation.

2026-01-01T00:00:00Z