A Case-controlled Investigation of Pain Experience and Sensory Function in Neuronal Ceroid Lipofuscinosis

Abstract

Objectives This case-control study explored pain experience and expression among individuals with Neuronal Ceroid Lipofuscinosis (NCL) through parental report, tactile-sensory testing, and infrared thermography (IRT). Methods Individuals with NCL (n=8; M age= 14.8 years) and their unaffected siblings (n=8;M age 23.5 years) were characterized in terms of pain response to a brief tactile sensory test (light touch, Von Frey monofilament). During sensory testing, behavioral expression was measured using the Battens Observational Pain Scale (BOPS) and infrared thermography (IRT) was used to quantify changes in skin/eye temperature. Results Individuals with NCL experienced pain frequently and from multiple sources that negatively impacted their lives. Individuals with NCL were reactive to the sensory testing as indexed by significant increased IRT temperature change (p<.001). Across combined sensory conditions, individuals with NCL were significantly more reactive (BOPS total score) to sensory testing compared to siblings (p< .05). Similarly, IRT difference scores between sensory conditions revealed a significant increase in temperature for individuals with NCL compared to siblings (p<.001). Discussion Ongoing reported pain was a problem for the individuals with NCL in this sample. Increased pain expression during the repeated Von Frey filament suggests that the pathophysiology of the ongoing pain may be centrally mediated.

Specific Behavioral Responses Rather Than Autonomic Responses Can Indicate and Quantify Acute Pain among Individuals with Intellectual and Developmental Disabilities

“…These variations in the autonomic responsivity among the aforementioned IDD groups may stem from the IDD etiology; nevertheless, they suggest an overall increased reactivity in IDD. Enhanced behavioral responses to mildly painful calibrated mechanical stimuli were also reported among children with IDD, compared with their siblings [ 24 ] and compared with control children [ 30 ].…”

“…In a later study, we found greater pain-evoked potentials among individuals with IDD than in controls, which was correlated with stimulation intensity [ 34 ]; however, this assessment method may not be feasible for clinical purposes. Except for another study in which tactile stimuli produced an increase in facial temperature among children with IDD, compared with controls [ 24 ], we could not find other studies in which physiological indices have been analyzed following experimental noxious stimuli.…”

“…Behavioral and physiological indices are potential candidates for this purpose. Indeed, individuals with IDD respond to painful clinical conditions, such as dental care, venipuncture, or physical treatment, with increased facial and bodily expressions, e.g., [ 18 , 19 , 20 , 21 , 22 , 23 , 24 ] as well as increased heartbeat, blood pressure, and oxygen saturation [ 25 , 26 , 27 ], compared with baseline values. However, because pain-provoking stimuli in these conditions can neither be quantified nor controlled, the extent to which such behavioral and physiological indicators can reliably differentiate between non-painful and painful states, and between different levels of pain, requires additional investigation and verification.…”

Pain Measurement through Temperature Changes in Children Undergoing Dental Extractions

“…Pain evaluation through changes in eye temperature has been previously examined in cattle [ 14 , 15 ] and in patients with neuronal ceroid lipofuscinosis [ 19 ]. It has been suggested that eye's temperature measured on the lacrimal caruncle, which estimates the capillary blood flow of the conjunctival bed, when measured by infrared thermography may be a practical and noninvasive measurement of SNS activity [ 17 ].…”

Guidelines on the Diagnosis, Clinical Assessments, Treatment and Management for CLN2 Disease Patients

“…Observational Pain Scale may be useful for parents monitoring their children's pain at home (74). Transdermal fentanyl has shown some efficacy in reducing centrally mediated pain (75).…”