scholarly journals Use of Power Mobility for a Young Child With Spinal Muscular Atrophy

2003 ◽  
Vol 83 (3) ◽  
pp. 253-262 ◽  
Author(s):  
Maria A Jones ◽  
Irene R McEwen ◽  
Laura Hansen
Keyword(s):  
Young Children ◽  
Spinal Muscular Atrophy ◽  
Physical Therapist ◽  
Muscular Atrophy ◽  
Developmental Changes ◽  
Type Ii ◽  
Case Description ◽  
Motor Impairments ◽  
Before And After ◽  
Severe Motor

Abstract Background and Purpose. Young children with severe motor impairments, such as spinal muscular atrophy, are often unable to move around their environment independently; therefore, they may be at risk for delays in areas of development not directly related to their motor limitations. Power mobility is an intervention that provides young children a means of independent movement and enables them to independently explore their environment. Case Description. The participant was a 20-month-old girl with type II spinal muscular atrophy. Intervention. The authors provided the child with a power wheelchair and gave her mother and physical therapist general guidelines to encourage her use of the power wheelchair. Outcomes. Within 6 weeks after receiving the power wheelchair, the child operated the wheelchair independently. She showed developmental gains in all domains of the Battelle Developmental Inventory and the Pediatric Evaluation of Disability Inventory over 6 months. The authors conducted an interview with the child's mother before and after intervention. She reported that the child was more independent after receiving the power wheelchair. Discussion. The power wheelchair may have been associated with the changes in the child's mobility and her developmental changes over 6 months.

scholarly journals Spinal Muscular Atrophy after Nusinersen Therapy: Improved Physiology in Pediatric Patients with No Significant Change in Urine, Serum, and Liquor 1H-NMR Metabolomes in Comparison to an Age-Matched, Healthy Cohort

Metabolites ◽  
2021 ◽  
Vol 11 (4) ◽  
pp. 206
Author(s):  
Leon Deutsch ◽  
Damjan Osredkar ◽  
Janez Plavec ◽  
Blaž Stres
Keyword(s):  
Machine Learning ◽  
Spinal Muscular Atrophy ◽  
1H Nmr ◽  
Pediatric Patients ◽  
Muscular Atrophy ◽  
Male And Female ◽  
Before And After ◽  
Healthy Cohort ◽  
Males And Females ◽  
Urine Serum

Spinal muscular atrophy (SMA) is a genetically heterogeneous group of rare neuromuscular diseases and was until recently the most common genetic cause of death in children. The effects of 2-month nusinersen therapy on urine, serum, and liquor 1H-NMR metabolomes in SMA males and females were not explored yet, especially not in comparison to the urine 1H-NMR metabolomes of matching male and female cohorts. In this prospective, single-centered study, urine, serum, and liquor samples were collected from 25 male and female pediatric patients with SMA before and after 2 months of nusinersen therapy and urine samples from a matching healthy cohort (n = 125). Nusinersen intrathecal application was the first therapy for the treatment of SMA by the Food and Drug Administration (FDA) and the European Medicines Agency (EMA). Metabolomes were analyzed using targeted metabolomics utilizing 600 MHz 1H-NMR, parametric and nonparametric multivariate statistical analyses, machine learning, and modeling. Medical assessment before and after nusinersen therapy showed significant improvements of movement, posture, and strength according to various medical tests. No significant differences were found in metabolomes before and after nusinersen therapy in urine, serum, and liquor samples using an ensemble of statistical and machine learning approaches. In comparison to a healthy cohort, 1H-NMR metabolomes of SMA patients contained a reduced number and concentration of urine metabolites and differed significantly between males and females as well. Significantly larger data scatter was observed for SMA patients in comparison to matched healthy controls. Machine learning confirmed urinary creatinine as the most significant, distinguishing SMA patients from the healthy cohort. The positive effects of nusinersen therapy clearly preceded or took place devoid of significant rearrangements in the 1H-NMR metabolomic makeup of serum, urine, and liquor. Urine creatinine was successful at distinguishing SMA patients from the matched healthy cohort, which is a simple systemic novelty linking creatinine and SMA to the physiology of inactivity and diabetes, and it facilitates the monitoring of SMA disease in pediatric patients through non-invasive urine collection.

Age related treatment effect in type II Spinal Muscular Atrophy pediatric patients treated with nusinersen

2021 ◽  
Author(s):  
Giorgia Coratti ◽  
Marika Pane ◽  
Simona Lucibello ◽  
Maria Carmela Pera ◽  
Amy Pasternak ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Treatment Effect ◽  
Pediatric Patients ◽  
Muscular Atrophy ◽  
Type Ii ◽  
Age Related

The effect of scoliosis surgery on pulmonary function in spinal muscular atrophy type II patients

2016 ◽  
Vol 26 (6) ◽  
pp. 1721-1731 ◽  
Author(s):  
Shih-Hsiang Chou ◽  
Gau-Tyan Lin ◽  
Po-Chih Shen ◽  
Yi-Jing Lue ◽  
Cheng-Chang Lu ◽  
...  
Keyword(s):  
Pulmonary Function ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Scoliosis Surgery ◽  
Type Ii ◽  
Spinal Muscular Atrophy Type

Lumbosacral ventral spinal nerve root atrophy identified on MRI in a case of spinal muscular atrophy type II

2019 ◽  
Vol 53 ◽  
pp. 134-137 ◽  
Author(s):  
Garrett Smith ◽  
Stephanie K. Bell ◽  
John T. Sladky ◽  
Peter B. Kang ◽  
Mehmet S. Albayram
Keyword(s):  
Spinal Muscular Atrophy ◽  
Nerve Root ◽  
Muscular Atrophy ◽  
Spinal Nerve ◽  
Type Ii ◽  
Spinal Nerve Root ◽  
Spinal Muscular Atrophy Type

SELECTIVE TYPE II MUSCLE FIBER HYPERTROPHY IN SEVERE INFANTILE SPINAL MUSCULAR ATROPHY

1990 ◽  
Vol 49 (3) ◽  
pp. 296
Author(s):  
Douglas W. Kingma ◽  
Warren A. Marks ◽  
Gary B. Bobele ◽  
Daniel L. Feeback ◽  
Richard W. Leech ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscle Fiber ◽  
Muscular Atrophy ◽  
Type Ii

Phonetic Imitation by Young Children and Its Developmental Changes

2014 ◽  
Vol 57 (6) ◽  
pp. 2065-2075 ◽  
Author(s):  
Kuniko Nielsen
Keyword(s):  
Young Children ◽  
Picture Naming ◽  
Voice Onset Time ◽  
Onset Time ◽  
Naming Task ◽  
Age Effect ◽  
Third Graders ◽  
Developmental Changes ◽  
Phonological Development ◽  
Before And After

Purpose In the current study, the author investigated the developmental course of phonetic imitation in childhood, and further evaluated existing accounts of phonetic imitation. Method Sixteen preschoolers, 15 third graders, and 18 college students participated in the current study. An experiment with a modified imitation paradigm with a picture-naming task was conducted, in which participants' voice-onset time (VOT) was compared before and after they were exposed to target speech with artificially increased VOT. Results Extended VOT in the target speech was imitated by preschoolers and 3rd graders as well as adults, confirming previous findings in phonetic imitation. Furthermore, an age effect of phonetic imitation was observed; namely, children showed greater imitation than adults, whereas the degree of imitation was comparable between preschoolers and 3rd graders. No significant effect of gender or word specificity was observed. Conclusions Young children imitated fine phonetic details of the target speech, and greater degree of phonetic imitation was observed in children compared to adults. These findings suggest that the degree of phonetic imitation negatively correlates with phonological development.

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