Intrathecal Baclofen Therapy for the Treatment of Spasticity in Sjögren-Larsson Syndrome

Hidalgo, Eveline Teresa; Orillac, Cordelia; Hersh, Andrew; Harter, David H.; Rizzo, William B.; Weiner, Howard L.

doi:10.1177/0883073816671440

Cited by 14 publications

(12 citation statements)

References 19 publications

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“…For improvement of gait quality (measured with the Gillette Gait Index), a moderate effect size was reported . For the quality of arm/hand function (measured with The Melbourne Assessment of Unilateral Upper Limb Function), a moderate effect size was found for children with CP …”

Section: Resultsmentioning

confidence: 99%

“…). One case study showed improvement of spasticity (MAS and Ashworth scores) in a child with Sjögren‐Larsson syndrome . One study reported on two children with Lesch–Nyhan syndrome, one child with amyotrophic lateral sclerosis, and one with Dandy–Walker syndrome but as part of a bigger (mainly CP) group, and MAS results were not separately reported for these patients .…”

Section: Resultsmentioning

confidence: 99%

“…28,29,31 For improvement of gait quality (measured with the Gillette Gait Index), a moderate effect size was reported. 33,34 For the quality of arm/hand function (measured with The Melbourne Assessment of Unilateral Upper Limb Function), a moderate effect size was found for children with CP. 31 Review 131 traumatic brain injury, and near-drowning, 21,22,24,25,30 showing moderate-to-large effect sizes ( Fig.…”

Section: Body Function and Structurementioning

confidence: 99%

“…One case study showed improvement of spasticity (MAS and Ashworth scores) in a child with Sj€ ogren-Larsson syndrome. 33 One study reported on two children with Lesch-Nyhan syndrome, one child with amyotrophic lateral sclerosis, and one with Dandy-Walker syndrome but as part of a bigger (mainly CP) group, and MAS results were not separately reported for these patients. 35 Dystonia (measured with the Barry-Albright Dystonia Scale) improved after intervention in case studies of patients with traumatic brain injury, anoxic brain injury, methylmalonic aciduria, panthothenate kinase deficiency, and adrenoleukodystrophy.…”

Section: Body Function and Structurementioning

confidence: 99%

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Effect of continuous intrathecal baclofen therapy in children: a systematic review

Buizer

Martens

Ravenhorst

et al. 2018

Develop Med Child Neuro

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Body Function and Structurementioning

confidence: 99%

Section: Body Function and Structurementioning

confidence: 99%

See 2 more Smart Citations

Effect of continuous intrathecal baclofen therapy in children: a systematic review

Buizer

Martens

Ravenhorst

et al. 2018

Develop Med Child Neuro

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show abstract

“…Oral retinoids and various topical treatments (e.g., urea containing creams) are used for skin manifestations (Gånemo, Jagell, & Vahlquist, ). Spasticity is treated with surgical procedures, botulinum toxin injections, and oral or intrathecal baclofen (Hidalgo et al., ). Seizures are controlled with antiepileptics (Gånemo et al., ).…”

Section: Introductionmentioning

confidence: 99%

Genotype and phenotype variability in Sjögren-Larsson syndrome

et al. 2018

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The Sjögren–Larsson syndrome (SLS) is a rare autosomal recessive disorder caused by pathogenic variants in the ALDH3A2 gene, which codes for fatty aldehyde dehydrogenase (FALDH). FALDH prevents the accumulation of toxic fatty aldehydes by converting them into fatty acids. Pathogenic ALDH3A2 variants cause symptoms such as ichthyosis, spasticity, intellectual disability, and a wide range of less common clinical features. Interpreting patient‐to‐patient variability is often complicated by inconsistent reporting and negatively impacts on establishing robust criteria to measure the success of SLS treatments. Thus, with this study, patient‐centered literature data was merged into a concise genotype‐based, open‐access database ( www.LOVD.nl/ALDH3A2 ). One hundred and seventy eight individuals with 90 unique SLS‐causing variants were included with phenotypic data being available for more than 90%. While the three lead symptoms did occur in almost all cases, more heterogeneity was observed for other frequent clinical manifestations of SLS. However, a stringent genotype–phenotype correlation analysis was hampered by the considerable variability in reporting phenotypic features. Consequently, we compiled a set of recommendations of how to generate comprehensive SLS patient descriptions in the future. This will be of benefit on multiple levels, for example, in clinical diagnosis, basic research, and the development of novel treatment options for SLS.

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Sjögren‐Larsson syndrome: The mild end of the phenotypic spectrum

et al. 2020

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Sjögren-Larsson syndrome (SLS) is a rare inborn error of lipid metabolism. The syndrome is caused by mutations in the ALDH3A2 gene, resulting in a deficiency of fatty aldehyde dehydrogenase. Most patients have a clearly recognizable severe phenotype, with congenital ichthyosis, intellectual disability, and spastic diplegia. In this study, we describe two patients with a remarkably mild phenotype. In both patients, males with actual ages of 45 and 61 years, the diagnosis was only established at an adult age. Their skin had been moderately affected from childhood onward, and both men remained ambulant with mild spasticity of their legs. Cognitive development, as reflected by school performance and professional career, had been unremarkable. Magnetic resonance spectroscopy of the first patient was lacking the characteristic lipid peak. We performed a literature search to identify additional SLS patients with a mild phenotype. We compared the clinical, radiologic, and molecular features of the mildly affected patients with the classical phenotype. We found 10 cases in the literature with a molecular proven diagnosis and a mild phenotype. Neither a genotype-phenotype correlation nor an alternative explanation for the

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Intrathecal Baclofen Therapy for the Treatment of Spasticity in Sjögren-Larsson Syndrome

Cited by 14 publications

References 19 publications

Effect of continuous intrathecal baclofen therapy in children: a systematic review

Effect of continuous intrathecal baclofen therapy in children: a systematic review

Genotype and phenotype variability in Sjögren-Larsson syndrome

Sjögren‐Larsson syndrome: The mild end of the phenotypic spectrum

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