Development of global rating instruments for pediatric patients with ataxia telangiectasia

Nissenkorn, Andreea; Borgohain, Rupam; Micheli, Roberto; Leuzzi, Vincenzo; Hegde, Anaita Udwadia; Mridula, Kandadai Rukmini; Molinaro, Anna; D’Agnano, Daniela; Yareeda, Sireesha; Ben‐Zeev, Bruria

doi:10.1016/j.ejpn.2015.09.002

Cited by 18 publications

(26 citation statements)

References 28 publications

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“…23,24 In AT, it correlated with BARS (r = 0.93), SARA (r = 0.83), and a Clinical Global Impression scale for AT (r = 0.76). 13 In individuals with CDG-PMM2, ICARS correlated with the Nijmegen Pediatric CDG Rating Scale (r = 0.90), 45 while the total and speech scores also correlated with the PATA rate. 47 In SCA, ICARS correlated with Barthel index (r = −0.70) and disease duration.…”

Section: International Cooperative Ataxia Rating Scalementioning

confidence: 96%

“…11 In patients with AT, BARS correlated with ICARS (r = 0.93) and Clinical Global Impression (r = 0.77). 13 In children after surgical resection of posterior fossa tumors (ie, glioma, medulloblastoma, ependymoma, or schwannoma), BARS correlated with the Pediatric Evaluation of Disability Index (r = −0.75). 12 BARS correlated with SARA (r = 0.51) and INAS (r = 0.49) scores in patients with SCA7.…”

Section: Rating Scalesmentioning

confidence: 99%

“…24 SARA was also correlated with measures of disease severity in other diseases, such as mild cerebellar stroke, 63 children with BTs, 12 and AT. 13 Responsiveness statistics are shown in Supporting Information Table E-1 in Appendix S1. The smallest detectable change for intraindividual score differences was <3.5.…”

Section: Scale For the Assessment And Rating Of Ataxiamentioning

confidence: 99%

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Assessment of Ataxia Rating Scales and Cerebellar Functional Tests: Critique and Recommendations

Pérez-Lloret

Warrenburg

Rossi³

et al. 2020

Movement Disorders

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A BS TRACT: Background: We assessed the clinimetric properties of ataxia rating scales and functional tests, and made recommendations regarding their use. Methods: A systematic literature search was conducted to identify the instruments used to rate ataxia symptoms. The identified rating scales and functional ability tests were reviewed and ranked by the panel as "recommended," "suggested," or "listed" for the assessment of patients with discrete cerebellar disorders, using previously established criteria. Results: We reviewed 14 instruments (9 rating scales and 5 functional tests).

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Section: International Cooperative Ataxia Rating Scalementioning

confidence: 96%

Section: Rating Scalesmentioning

confidence: 99%

Section: Scale For the Assessment And Rating Of Ataxiamentioning

confidence: 99%

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Assessment of Ataxia Rating Scales and Cerebellar Functional Tests: Critique and Recommendations

Pérez-Lloret

Warrenburg

Rossi³

et al. 2020

Movement Disorders

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“…Germanotta et al 131 validated the use of InMotion Arm Robot to measure upper limb function. Nissenkorn et al 132 developed a clinical global impression scale for ataxia-telangiectasia, which includes sections on motor function. For progressive myelopathy, including mucopolysaccharidosis types I and VI, Castilhos et al 133 developed and validated the Severity Score System for Progressive Myelopathy.…”

Section: Resultsmentioning

confidence: 99%

Scoping review of symptoms in children with rare, progressive, life-threatening disorders

Pawliuk

Widger

Dewan

et al. 2019

BMJ Support Palliat Care

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BackgroundQ3 conditions are progressive, metabolic, neurological or chromosomal childhood conditions without a cure. Children with these conditions face an unknown lifespan as well as unstable and uncomfortable symptoms. Clinicians and other healthcare professionals are challenged by a lack of evidence for symptom management for these conditions.AimsIn this scoping review, we systematically identified and mapped the existing literature on symptom management for children with Q3 conditions. We focused on the most common and distressing symptoms, namely alertness, behavioural problems, bowel incontinence, breathing difficulties, constipation, feeding difficulties, sleep disturbance, temperature regulation, tone and motor problems and urinary incontinence. For children with complex health conditions, good symptom management is pertinent to ensure the highest possible quality of life.MethodsScoping review. Electronic database searches in Ovid MEDLINE, Embase and CINAHL and a comprehensive grey literature search.ResultsWe included 292 studies in our final synthesis. The most commonly reported conditions in the studies were Rett syndrome (n=69), followed by Cornelia de Lange syndrome (n=25) and tuberous sclerosis (n=16). Tone and motor problems were the most commonly investigated symptom (n=141), followed by behavioural problems (n=82) and sleep disturbance (n=62).ConclusionThe evidence for symptom management in Q3 conditions is concentrated around a few conditions, and these studies may not be applicable to other conditions. The evidence is dispersed in the literature and difficult to access, which further challenges healthcare providers. More research needs to be done in these conditions to provide high-quality evidence for the care of these children.

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“…The neurological examination focused specifically on cerebellar signs and symptoms. The International Cooperative Ataxia Rating Scale (ICARS), a scale of cerebellar ataxia symptoms [41] was applied. ICARS is a 100-point semi-quantitative scale comprising 19 items grouped into 4 subscales: Posture and Gait disturbances (maximum score = 34), Kinetic Functions (maximum score = 52), Speech Disorders (maximum score = 8) and Oculomotor Disorders (maximum score = 6).…”

Section: Methodsmentioning

confidence: 99%

Cerebellar involvement in warts Hypogammaglobulinemia immunodeficiency myelokathexis patients: neuroimaging and clinical findings

Galli

Pinelli

Micheletti

et al. 2019

Orphanet J Rare Dis

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Background Warts Hypogammaglobulinemia Immunodeficiency Myelokathexis (WHIM) syndrome is a primary immunodeficiency characterized by recurrent bacterial infections, severe chronic neutropenia, with lymphopenia, monocytopenia and myelokathexis which is caused by heterozygous gain of functions mutations of the CXC chemokine receptor 4 (CXCR4). WHIM patients display an increased incidence of non-hematopoietic conditions, such as congenital heart disease suggesting that abnormal CXCR4 may put these patients at increased risk of congenital anomalies. Studies conducted on CXCR4 and SDF-1-deficient mice have demonstrated the role of CXCR4 signaling in neuronal cell migration and brain development. In particular, CXCR4 conditional knockout mice display abnormal cerebellar morphology and poor coordination and balance on motor testing. Results In order to evaluate a possible neurological involvement in WHIM syndrome subjects, we performed neurological examination, including International Cooperative Ataxia Rating Scale, cognitive and psychopathological assessment and brain Magnetic Resonance Imaging (MRI) in 6 WHIM patients (age range 8–51 years) with typical gain of functions mutations of CXCR4 (R334X or G336X). In three cases (P3, P5, P6) neurological evaluation revealed fine and global motor coordination disorders, balance disturbances, mild limb ataxia and excessive talkativeness. Brain MRI showed an abnormal orientation of the cerebellar folia involving bilaterally the gracilis and biventer lobules together with the tonsils in four subjects (P3, P4, P5, P6). The neuropsychiatric evaluation showed increased risk of internalizing and/or externalizing problems in four patients (P2, P3, P4, P6). Conclusions Taken together, these observations suggest CXCR4 gain of function mutations can be associated with cerebellar malformation, mild neuromotor and psychopathological dysfunction in WHIM patients.

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Development of global rating instruments for pediatric patients with ataxia telangiectasia

Cited by 18 publications

References 28 publications

Assessment of Ataxia Rating Scales and Cerebellar Functional Tests: Critique and Recommendations

Assessment of Ataxia Rating Scales and Cerebellar Functional Tests: Critique and Recommendations

Scoping review of symptoms in children with rare, progressive, life-threatening disorders

Cerebellar involvement in warts Hypogammaglobulinemia immunodeficiency myelokathexis patients: neuroimaging and clinical findings

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