Publications by authors named "M Sobieska"
Article Synopsis
- A boy with mosaic Down Syndrome and spinal muscular atrophy faced delayed diagnosis due to overlapping symptoms, complicating his motor development.
- Born at 37 weeks with a normal Apgar score and without significant family history, he was diagnosed with an unbalanced male karyotype at 3 weeks old.
- The final diagnosis of both conditions came at 27 months, after noticing muscle strength decline and other neurological issues during evaluations.
Article Synopsis
- Recent advancements in diagnosis and treatment have transformed the management of spinal muscular atrophy (SMA), leading to new patient classifications based on functional levels: non-sitters, sitters, and walkers.
- Despite these improvements, patients still face structural issues like scoliosis and joint contractures, which hinder their motor skill development and highlight the need for ongoing monitoring.
- A study involving 34 SMA patients assessed structural and functional changes over 12 months, revealing non-significant structural deterioration but a general trend of functional improvement, underscoring the importance of including structural evaluations in routine assessments.
Introduction: The characteristic feature of primitive reflexes is that they occur early in development and must expire at a well-defined age. The study was conducted prospectively on a group of 107 children (74 boys). The study population included 83 infants born on time (weight 3,465 ± 395 g) and 24 born prematurely (weight 2,225 ± 793 g).
View Article and Find Full Text PDFBackground: Proper motor development can be influenced by a range of risk factors. The resulting motor performance can be assessed through quantitative and qualitative analysis of posture and movement patterns.
Methods: This study was designed as the cohort follow-up of the motor assessment and aimed to demonstrate, in a mathematical way, the impact of particular risk factors on elements of motor performance in the 3 month and the final motor performance in the 9 month of life.
Spinal muscular atrophy (SMA) is an autosomal recessive disorder caused by the deletion or/and mutation in the survival motor neuron 1 (SMN1) gene on chromosome 5. Until now, only a few articles investigating the relationship between upper limb function and the gross motor function in untreated SMA patients have been published. However, there is still a lack of publications including the relationship between structural changes such as cervical rotation, trunk rotation and side trunk shortening, and upper limb function.
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