Thalamic lesions in a long-surviving child with spinal muscular atrophy type I: MRI and EEG findings

Ito, Yasushi; Kumada, Satoko; Uchiyama, Akira; Saito, Kayoko; Ōsawa, Makiko; Yagishita, Akira; Kurata, Kiyoko; Hayashi, Masaharu

doi:10.1016/s0387-7604(03)00075-5

Cited by 28 publications

(29 citation statements)

References 9 publications

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“…Australian clinicians caring for children with SMA 1 apparently eschew invasive options which prolong survival but may not (in their view) improve quality of life, such as mechanical ventilation, cardiopulmonary resuscitation and percutaneous endoscopic gastrostomy. These results stand in contrast to literature that describes a much broader spectrum of practice from the United States, France and Japan [11,[17][18][19][20][21].…”

Section: Discussioncontrasting

confidence: 99%

Management of children with spinal muscular atrophy type 1 in Australia

Tassie

Isaacs

Kilham

et al. 2013

J Paediatrics Child Health

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Aims: To (1) estimate the prevalence of Spinal Muscular Atrophy Type 1 (SMA 1); (2) describe what practices characterise end-of-life care of patients with SMA 1; (3) ascertain whether a consistent approach to the management of these patients exists in Australia. Methods: An audit of the Australasian pathology laboratories offering the diagnostic SMN1 deletion test was conducted for patients diagnosed with SMA in Australia for 2010 and 2011. In addition, a retrospective clinical audit was conducted in eight major Australian paediatric hospitals of the end-of-life care provided to children with confirmed SMA 1 from 2005 to 2010. Results: 35 children were included in the clinical audit, accounting for an estimated 61% of children diagnosed with SMA 1 from 2005-2010. 26% were ventilated invasively, only two of whom were intubated after the diagnosis was confirmed. No children were ventilated longterm (>90 days) or had a tracheostomy performed. Nasogastric tube feeding was a common measure to support adequate nutritional intake. Total parenteral nutrition, gastrostomy and fundoplication were not provided for any children. Conflict over end-of-life care decisions was documented in one instance, without the involvement of a guardianship tribunal.Conclusion: There appears to be a consistent approach in the management of children with SMA 1 in Australia, which can be characterised as 'actively managed dying.' This study could contribute to the development of Australian consensus guidelines for the management of these children. These results also highlight a number of ethical issues related to the management of children with SMA 1.

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Section: Discussioncontrasting

confidence: 99%

Management of children with spinal muscular atrophy type 1 in Australia

Tassie

Isaacs

Kilham

et al. 2013

J Paediatrics Child Health

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“…4 Most of these latter patients die in the first weeks of life. [11][12][13][14][15] In this work, we present 3 patients (pts) with clinical and genetic diagnosis of SMA type 0 who survived longer than expected and presented similar progressive brain imaging changes over time. 6,7 Several studies have demonstrated a strong inverse correlation between the number of SMN2 copies (a homologous gene of SMN1) and SMA severity.…”

mentioning

confidence: 88%

Severe brain involvement in 5q spinal muscular atrophy type 0

Mendonça

Rocha²,

Lozano-Arango

et al. 2019

Annals of Neurology

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“…Moreover, it has been recognized by neuropathologists for many years that specific regions of the brain such as the thalamus show neuronal loss in severe SMA patients, although this has been assumed to be subclinical (Shishikura et al, 1983; Yohannan et al, 1991; Oka et al, 1995; Hayashi et al, 1998; Araki et al, 2003; Ito et al, 2004). …”

Section: Is Motor Neuron Specificity In Sma Absolute or Relative?mentioning

confidence: 99%

The contribution of mouse models to understanding the pathogenesis of spinal muscular atrophy

Sleigh

Gillingwater

Talbot

2011

Disease Models &Amp; Mechanisms

111

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Spinal muscular atrophy (SMA), which is caused by inactivating mutations in the survival motor neuron 1 (SMN1) gene, is characterized by loss of lower motor neurons in the spinal cord. The gene encoding SMN is very highly conserved in evolution, allowing the disease to be modeled in a range of species. The similarities in anatomy and physiology to the human neuromuscular system, coupled with the ease of genetic manipulation, make the mouse the most suitable model for exploring the basic pathogenesis of motor neuron loss and for testing potential treatments. Therapies that increase SMN levels, either through direct viral delivery or by enhancing full-length SMN protein expression from the SMN1 paralog, SMN2, are approaching the translational stage of development. It is therefore timely to consider the role of mouse models in addressing aspects of disease pathogenesis that are most relevant to SMA therapy. Here, we review evidence suggesting that the apparent selective vulnerability of motor neurons to SMN deficiency is relative rather than absolute, signifying that therapies will need to be delivered systemically. We also consider evidence from mouse models suggesting that SMN has its predominant action on the neuromuscular system in early postnatal life, during a discrete phase of development. Data from these experiments suggest that the timing of therapy to increase SMN levels might be crucial. The extent to which SMN is required for the maintenance of motor neurons in later life and whether augmenting its levels could treat degenerative motor neuron diseases, such as amyotrophic lateral sclerosis (ALS), requires further exploration.

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Thalamic lesions in a long-surviving child with spinal muscular atrophy type I: MRI and EEG findings

Cited by 28 publications

References 9 publications

Management of children with spinal muscular atrophy type 1 in Australia

Management of children with spinal muscular atrophy type 1 in Australia

Severe brain involvement in 5q spinal muscular atrophy type 0

The contribution of mouse models to understanding the pathogenesis of spinal muscular atrophy

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