Validation of the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND)

Glanzman, Allan M.; McDermott, Michael P.; Montes, Jacqueline; Martens, William; Flickinger, Jean; Riley, Susan; Quigley, Janet; Dunaway, Sally; O’Hagen, Jessica; Deng, Liyong; Chung, Wendy K.; Tawil, Rabi; Darras, Basil T.; Yang, Michele; Sproule, Douglas M.; Vivo, Darryl C. De; Kaufmann, Petra; Finkel, Richard S.

doi:10.1097/pep.0b013e3182351f04

Cited by 125 publications

(92 citation statements)

References 12 publications

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“…Test items are observational or elicited; they are age and developmentally appropriate and they are scored for full, partial or no response. Typical SMA-I infants at the time of diagnosis achieve a score ranging from 17 to 36 points; no floor or ceiling effect is noted in typical SMA-I patients (22, 23). Electrophysiology studies of the distal ulnar compound motor action potential were performed (R.F., S.Y.)…”

Section: Methodsmentioning

confidence: 94%

Spectrum of Neuropathophysiology in Spinal Muscular Atrophy Type I

Harding

Kariya

Monani

et al. 2015

J Neuropathol Exp Neurol

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Neuropathological findings within the CNS and PNS in patients with spinal muscular atrophy type I (SMA-I) were examined in relation to genetic, clinical and electrophysiological features. Five infants representing the full clinical spectrum of SMAI were examined clinically for compound motor action potential amplitude and SMN2 gene copy number; morphologic analyses of postmortem CNS, neuromuscular junction and muscle tissue samples were performed and SMN protein was assessed in muscle samples. The 2 clinically most severely affected patients had a single copy of the SMN2 gene; in addition to anterior horn cells, dorsal root ganglia and thalamus, neuronal degeneration in them was widespread in cerebral cortex, basal ganglia, pigmented nuclei, brainstem and cerebellum. Two typical SMA-I patients and a milder case each had 2 copies of the SMN2 gene and more restricted neuropathological abnormalities. Maturation of acetylcholine receptor subunits was delayed and the neuromuscular junctions were abnormally formed in the SMA-1 patients. Thus, the neuropathological findings in human SMA-I are similar to many findings in animal models; factors other than SMN2 copy number modify disease severity. We present a pathophysiologic model for SMA-I as a protein deficiency disease affecting a neuronal network with variable clinical thresholds. Because new treatment strategies improve survival of infants with SMA-I, a better understanding of these factors will guide future treatments.

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Section: Methodsmentioning

confidence: 94%

Spectrum of Neuropathophysiology in Spinal Muscular Atrophy Type I

Harding

Kariya

Monani

et al. 2015

J Neuropathol Exp Neurol

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“…All patients were assessed using both the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND), 9,10 which includes 16 items with a total score between 0 and 64, and the developmental section of the Hammersmith Infant Neurological Examination (HINE-2), which includes 8 selected motor items scored accordingly to the gradient of normal maturation. Written informed consent was obtained from all participants (or guardians of participants) in the study (consent for research).…”

Section: Methodsmentioning

confidence: 99%

Nusinersen in type 1 spinal muscular atrophy: Twelve‐month real‐world data

Pane

Coratti

Sansone

et al. 2019

Annals of Neurology

101

103

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Objective: The aim of the study was to report 12-month changes after treatment with nusinersen in a cohort of 85 type I spinal muscular atrophy patients of ages ranging from 2 months to 15 years and 11 months. Methods: All patients were assessed using the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) and the Hammersmith Infant Neurological Examination-Section 2 (HINE-2). Results: Two of the 85 patients had 1 SMN2 copy, 61 had 2 copies, and 18 had 3 copies. In 4 patients the SMN2 copy number was not available. At baseline, the mean CHOP INTEND scores ranged between 0 and 52 (mean = 15.66, standard deviation [SD] = AE13.48), and the mean HINE-2 score was between 0 and 5 (mean = 0.69, SD = AE1.23). There was a difference between baseline and the 12-month scores on both the CHOP INTEND and the HINE-2 for the whole group (p < 0.001), the subgroups with 2 SMN2 copies (p < 0.001), and those with 3 SMN2 copies (p < 0.001). The difference was found not only in patients younger than 210 days at baseline (p < 0.001) but also in those younger than 5 years on the CHOP INTEND and younger than 2 years on the HINE-2. Interpretation: Our results, expanding the age range and the severity of type I patients treated with nusinersen over 1 year, provide additional data on the range of efficacy of the drug that will be helpful in making an informed decision on whether to start treatment in patients of different ages and severity.

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“…Global motor function was assessed by applying the 16-item scale Children’s Hospital of Philadelphia Infant Test for Neuromuscular Disorders (CHOP INTEND) scale[40,41] for SMA1, while the 33-items Hammersmith functional motor scale expanded (HFMSE)[42] and the 9-items Upper Limb Module (ULM) were used in SMA2 and SMA3. The HFMSE assesses motor function (e.g.…”

Section: Methodsmentioning

confidence: 99%

Spontaneous Breathing Pattern as Respiratory Functional Outcome in Children with Spinal Muscular Atrophy (SMA)

et al. 2016

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IntroductionSMA is characterised by progressive motor and respiratory muscle weakness. We aimed to verify if in SMA children 1)each form is characterized by specific ventilatory and thoraco-abdominal pattern(VTAp) during quiet breathing(QB); 2)VTAp is affected by salbutamol therapy, currently suggested as standard treatment, or by the natural history(NH) of SMA; 3)the severity of global motor impairment linearly correlates with VTAp.Materials and methodsVTAp was analysed on 32 SMA type I (SMA1,the most severe form), 51 type II (SMA2,the moderate), 8 type III (SMA3,the mildest) and 20 healthy (HC) using opto-electronic plethysmography. Spirometry, cough and motor function were measured in a subgroup of patients.ResultsIn SMA1, a normal ventilation is obtained in supine position by rapid and shallow breathing with paradoxical ribcage motion. In SMA2, ventilation is within a normal range in seated position due to an increased respiratory rate(p<0.05) with reduced tidal volume(p<0.05) secondary to a poor contribution of pulmonary ribcage(%ΔVRC,P, p<0.001). Salbutamol therapy had no effect on VTAp during QB(p>0.05) while tachypnea occurred in type I NH. A linear correlation(p<0.001) was found between motor function scales and VTAp.ConclusionA negative or reduced %ΔVRC,P, indicative of ribcage muscle weakness, is a distinctive feature of SMA1 and SMA2 since infancy. Its quantitative assessment represents a non-invasive, non-volitional index that can be obtained in all children, even uncollaborative, and provides useful information on the action of ribcage muscles that are known to be affected by the disease.Low values of motor function scales indicate impairment of motor but also of respiratory function.

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Validation of the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND)

Abstract: The CHOP INTEND reflects measures of disease severity and supports continued exploration of the CHOP INTEND.

Cited by 125 publications

References 12 publications

Spectrum of Neuropathophysiology in Spinal Muscular Atrophy Type I

Spectrum of Neuropathophysiology in Spinal Muscular Atrophy Type I

Nusinersen in type 1 spinal muscular atrophy: Twelve‐month real‐world data

Spontaneous Breathing Pattern as Respiratory Functional Outcome in Children with Spinal Muscular Atrophy (SMA)

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