Development and initial validation of the polyhandicap severity scale

Rousseau, Marie-Christine; Baumstarck, Karine; Hamouda, Ilyes; Valkov, Maria; Felce, A; Khaldi-Cherif, Sherezad; Brisse, C.; Loundou, Anderson; Auquier, Pascal; Villemeur, Thierry Billette de

doi:10.1016/j.neurol.2020.06.018

Cited by 6 publications

(7 citation statements)

References 12 publications

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“…Using the AGS neurologic severity scale developed by Adang et al [ 14 ], our results were in line with those reported by Vanderver et al [ 8 ], with a median gain of 1 point on the 11-point scale, and improvement mainly confined to social smile and vocalization, the latter consistent with the description of caregivers reporting their children to be more comfortable (this improvement was statistically significant at M9 compared to M0). However, there was no change in other scales assessing either the severity of multiple disabilities (polyhandicap [ 15 ]), movement disorders [ 16 – 18 ], or other domains of everyday-life care [ 19 ] (assessed by parents).…”

Section: Discussionmentioning

confidence: 99%

“…All patients were assessed by a single neuro-pediatrician (Marie Hully, MH). Specific scales were used to record developmental status and evolution, i.e., the AGS neurologic severity scale developed by Adang et al [ 14 ] and the polyhandicap severity scale developed by Rousseau et al [ 15 ]. Where present, dystonia and other movement disorders were assessed using the Barry Albright Dystonia Scale [ 16 ] (BADS) and the Movement Disorder Childhood Rating scales [ 17 , 18 ] (MDCS).…”

Section: Methodsmentioning

confidence: 99%

“…Here, in a real-world approach study, we report our off-label experience of the use of JAK1/2 inhibition in 11 patients with AGS, with a median follow-up of 17 months (range 12 to 48 months) providing extensive clinical (AGS neurologic severity scale [ 8 , 14 ]; polyhandicap severity scale [ 15 ]; dystonia rating [ 16 – 18 ]; caregiver assessment of activities of daily living [ 19 ]), radiological, and biological data.…”

Section: Introductionmentioning

confidence: 99%

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JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary Real-World Approach Study

Frémond,

Hully,

Fournier

et al. 2023

J Clin Immunol

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The paradigm type I interferonopathy Aicardi-Goutières syndrome (AGS) is most typically characterized by severe neurological involvement. AGS is considered an immune-mediated disease, poorly responsive to conventional immunosuppression. Premised on a chronic enhancement of type I interferon signaling, JAK1/2 inhibition has been trialed in AGS, with clear improvements in cutaneous and systemic disease manifestations. Contrastingly, treatment efficacy at the level of the neurological system has been less conclusive. Here, we report our real-word approach study of JAK1/2 inhibition in 11 patients with AGS, providing extensive assessments of clinical and radiological status; interferon signaling, including in cerebrospinal fluid (CSF); and drug concentrations in blood and CSF. Over a median follow-up of 17 months, we observed a clear benefit of JAK1/2 inhibition on certain systemic features of AGS, and reproduced results reported using the AGS neurologic severity scale. In contrast, there was no change in other scales assessing neurological status; using the caregiver scale, only patient comfort, but no other domain of everyday-life care, was improved. Serious bacterial infections occurred in 4 out of the 11 patients. Overall, our data lead us to conclude that other approaches to treatment are urgently required for the neurologic features of AGS. We suggest that earlier diagnosis and adequate central nervous system penetration likely remain the major factors determining the efficacy of therapy in preventing irreversible brain damage, implying the importance of early and rapid genetic testing and the consideration of intrathecal drug delivery.

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Section: Discussionmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary Real-World Approach Study

Frémond,

Hully,

Fournier

et al. 2023

J Clin Immunol

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“…The data from the first wave were also used to validate two new major tools for the assessment of individuals with polyhandicap. First, the polyhandicap severity scale 7 provides the first reliable and valid measure of the health severity status for children and adults with polyhandicap that can be easily applied in research and clinical practice. Second, the PolyQoL questionnaire is a short proxy-reported questionnaire assessing the quality of life of persons with polyhandicap (Hamouda I.…”

Section: Resultsmentioning

confidence: 99%

“…No similar evaluation exists in France or in other countries. The main findings were disseminated by means of many international publications 2,[7][8][9][10][16][17][18][19] . This paper details the major elements of the EVAL-PLH study protocol.…”

mentioning

confidence: 99%

The French EVAL-PLH cohort of persons with polyhandicap

Hamouda

Anzola²,

Villemeur³

et al. 2022

Sci Rep

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Polyhandicap is characterized by a combination of profound intellectual disability and serious motor deficit, resulting in the extreme restriction of autonomy and communication. The aim of the EVAL-PLH (EVALuation PoLyHandicap) study is to identify the impact of socioeconomic, environmental, and epidemiological determinants on the health status of the persons with polyhandicap and the daily lives of their caregivers. EVAL-PLH is a prospective cohort study. The study involved persons with severe polyhandicap (who were cared for at reeducation centers, residential facilities, and one specialized pediatric/neurological department of a university hospital), their familial caregivers and the institutional caregivers. Data collection included sociodemographics, heath status, and psychocomportemental information. Data have been collected at 2 points (2015-2016 and 2020-2021). The French EVAL-PLH cohort is the first cohort study focusing on persons with polyhandicap, their families, and the health care workers caring for them. The sustainability of the device is essential to assist patients, families, clinicians, and health decision-making authorities in the optimization of care management.

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