Cerebral palsy pain instruments: Recommended tools for clinical research studies by the National Institute of Neurological Disorders and Stroke Cerebral Palsy Common Data Elements project.

AIM: This study describes the process of updating the cerebral palsy (CP) common data elements (CDEs), specifically identifying tools that capture the impact of chronic pain on children's functioning. METHOD: Through a partnership between the American Academy for Cerebral Palsy and Developmental Medicine and the National Institute of Neurological Disorders and Stroke (NINDS), the CP CDEs were developed as data standards for clinical research in neuroscience. Chronic pain was underrepresented in the NINDS CP CDEs version 1.0. A multi-step methodology was applied by an interdisciplinary professional team. Following an adapted CP chronic pain tools' rating system, and a review of psychometric properties, clinical utility, and compliance with inclusion/exclusion criteria, a set of recommended pain tools was posted online for external public comment in May 2022. RESULTS: Fifteen chronic pain tools met inclusion criteria, representing constructs across all components of the International Classification of Functioning, Disability and Health. INTERPRETATION: This paper describes the first condition-specific pain CDEs for a pediatric population. The proposed set of chronic pain tools complement and enhance the applicability of the existing pediatric CP CDEs. The novel CP CDE pain tools harmonize the assessment of chronic pain, addressing not only intensity of chronic pain, but also the functional impact of experiencing it in everyday activities.

Parental perspectives on living with a child with HoPE.

This article describes the experiences and perceived needs of a small cohort of parents of children with holoprosencephaly (HPE). The factors that are important to the lives of children vary across families and stages of development. As children living with HPE grow and change, parents adapt their goals and expectations to reflect their child's now and future state. Relevant literature is integrated within the discussion to support recommendations for care.

Sensory and motor deficits in children with cerebral palsy born preterm correlate with diffusion tensor imaging abnormalities in thalamocortical pathways.

AIM: Cerebral palsy (CP) is frequently linked to white matter injury in children born preterm. Diffusion tensor imaging (DTI) is a powerful technique providing precise identification of white matter microstructure. We investigated the relationship between DTI-observed thalamocortical (posterior thalamic radiation) injury, motor (corticospinal tract) injury, and sensorimotor function. METHOD: Twenty-eight children born preterm (16 males, 12 females; mean age 5y 10mo, SD 2y 6mo, range 16mo-13y; mean gestational age at birth 28wks, SD 2.7wks, range 23-34wks) were included in this case-control study. Twenty-one children had spastic diplegia, four had spastic quadriplegia, two had hemiplegia, and one had ataxic/hypotonic CP; 15 of the participants walked independently. Normative comparison data were obtained from 35 healthy age-matched children born at term (19 males, 16 females; mean age 5y 9mo, SD 4y 4mo, range 15mo-15y). Two-dimensional DTI color maps were created to evaluate 26 central white matter tracts, which were graded by a neuroradiologist masked to clinical status. Quantitative measures of touch, proprioception, strength (dynamometer), and spasticity (modified Ashworth scale) were obtained from a subset of participants. RESULTS: All 28 participants with CP had periventricular white-matter injury on magnetic resonance imaging. Using DTI color maps, there was more severe injury in the posterior thalamic radiation pathways than in the descending corticospinal tracts. Posterior thalamic radiation injury correlated with reduced contralateral touch threshold, proprioception, and motor severity, whereas corticospinal tract injury did not correlate with motor or sensory outcome measures. INTERPRETATION: These findings extend previous research demonstrating that CP in preterm children reflects disruption of thalamocortical connections as well as descending corticospinal pathways.

Can spasticity and dystonia be independently measured in cerebral palsy?

Selecting and evaluating appropriate treatments for children with cerebral palsy has been challenging. One difficulty is in the ability to quantify the presence and importance of coexisting motor signs. This study presents quantitative measures developed to assess spasticity and dystonia. Children diagnosed with extrapyramidal or spastic cerebral palsy and matched control children were studied. Spasticity was measured as the slope of the force-velocity relationship from a test where we measured the forces required to passively extend the elbow at different velocities. Dystonia was assessed by measuring "overflow" movements of arm during active movement of the other arm. Measures of dystonia and spasticity did not correlate with one another, but did correlate with their respective clinical measurement tools, the Modified Ashworth scale and the Barry-Albright Dystonia scale. Most children had a combination of both spasticity and dystonia, despite diagnosis. Our measures also related to different aspects of reaching: children with increased dystonia made more curved paths, and children with increased spasticity hit higher peak velocities. These measurements allow us to distinguish between different motor disorders and the degree to which each contributes to reaching performance. Use of quantitative measures should improve selection and evaluation of treatments for childhood motor disorders.

Links between abnormal brain structure and cognition in holoprosencephaly.

Converging information on medical issues, motor ability, and cognitive outcomes is essential when addressing long-term clinical management in children with holoprosencephaly. This study considered whether adding more informative structural indices to classic holoprosencephaly categories would increase prediction of cognitive outcomes. Forty-two children with holoprosencephaly were examined to determine the association of deep gray nuclei abnormalities with cognitive abilities and the effect of motor skill deficits on cognitive performance. Additionally, a cognitive profile was described using the Carter Neurocognitive Assessment, an experimental diagnostic instrument designed specifically for young children with severe neurodevelopmental dysfunction. Findings indicated that nonseparation of the deep gray nuclei was significantly associated with the cognitive construct of vocal communication, but not with the cognitive constructs of social awareness, visual attention, or auditory comprehension. Importantly, motor skill deficits did not significantly affect performance on the Carter Neurocognitive Assessment. This study is the first investigation to provide a descriptive overview of specific cognitive skills in this group of children. The results also strongly suggest that this feature of the brain's structure does not predict all aspects of neurodevelopmental function. These findings contribute a critical component to the growing body of knowledge regarding the medical and clinical outcomes of children with holoprosencephaly.

Factor analysis of neuroanatomical and clinical characteristics of holoprosencephaly.

The objective of this study is to better understand the relationship between neuroradiologic and clinical characteristics in holoprosencephaly (HPE) using the multivariate analysis called factor analysis. HPE is a brain malformation characterized by incomplete cleavage of the cerebral hemispheres and deep gray structures. We performed evaluations on 89 children with HPE that included their history, developmental assessment, and physical examination. Ten clinical variables included in factor analysis were the grade of spasticity, dystonia, choreoathetosis, hypotonia, mobility, upper extremity/hand function, expressive language, feeding/swallowing difficulty, endocrinopathies, and temperature dysregulation. Five neuroimaging variables graded by pediatric neuroradiologists were the grade of HPE (from least to most severe: lobar, semilobar, and alobar) and the degree of non-separation of caudate, lentiform, thalamic, and hypothalamic nuclei. Factor analysis using principle component extraction and varimax rotation was utilized. Four significant factors were identified: (1) neuroimaging/developmental factor, (2) motor factor, (3) hypothalamic/oromotor factor, and (4) hypotonia factor. These four factors accounted for 65.2% of the variance. In this factor analysis of HPE patients, we were able to reduce the large number of clinical and radiological variables into four factors. These factors and the constructs underlying them provide structure to the data and provide key parameters for future studies involving neurodevelopmental outcomes in HPE.

A retrospective survey of perinatal risk factors of 104 living children with holoprosencephaly.

Holoprosencephaly (HPE) is a brain malformation resulting from a primary defect in development of the basal forebrain during early gestation. Prenatal genetic and environmental factors and birth outcomes were described in a population of 104 children with holoprosencephaly referred to three clinical centers from 1998 through 2002. The mean child age was 4 years. Of cases karyotyped, 9% presented with a chromosomal abnormality. This study of living children with holoprosencephaly, the majority of whom are cytogenetically normal, provides new information on the subsample of children with a less severe phenotype. Most children were born at term; about 51% were microcephalic at birth. Consistent with previous research, the association between HPE and maternal history of diabetes merits further investigation. Several findings have important implications for future research. Only 22% of the children in this study sample were diagnosed with holoprosencephaly prenatally. The vast majority of children (72%) were diagnosed with HPE between birth and 1 year of age. Also, 19% of the cases referred to the Carter Centers with HPE were not confirmed on scan review. When possible, future population-based epidemiological studies should emphasize mechanisms that identify children with HPE outside of the newborn period and confirm the diagnosis by review of MRI or high quality CT brain scan.