Pain Insensitivity in Cri du Chat Syndrome
G. Albani1, A. Liava2, N. Cresta3, C. Danesino4, M. De Gennaro1, F. Ismelli6, A.Cistaro5, A. Guala3
1Department of Neurology, Istituto Auxologico Italiano, IRCCS, Piancavallo-Verbania, Italy
2Pediatric Neurology and Psychiatry Service, Castelli Hospital, Verbania, Italy
3Department of Pediatrics, Castelli Hospital, Verbania, Italy
4Genetics, Department of Molecular Medicine, University of Pavia, Italy
5Department of Nuclear Medicine, Galliera Hospital, Genoa, Italy; Pediatric Study Group,
Association of Italian Nuclear Medicine
6Rehabilitation Unit, Istituto Auxologico Italiano, Clinical and Research Institute
*Corresponding Author: Francesco Ismelli, Rehabilitation Unit, Istituto Auxologico Italiano,
Clinical and Research Institute 28922 Verbania, Italy.
Received:
November 30, 2021; Published: February 15, 20212
Abstract
Background: Cri-du-Chat Syndrome (CdCS) is a rare genetic disease, caused by a deletion of variable size on the short arm of chromosome 5, and characterized by a cat-like cry, intellectual disability and high frequency of self-injured behavior, such as Skin Picking. Parents often report an altered pain perception in these patients during their activities of daily life.
Aim: To evaluate the sensory peripheral pathways in CdCS patients.
Methods: We evaluated four patients with CdCS by Quantitative Sensory Study (QST), neurological exam and nerve conduction studies.
Results: All four CdCS patients showed a high threshold and an exaggerate tolerance to thermal (cold and warm) stimuli at QST, even if the clinical history, the neurological exam and the nerve conduction study were negative for a peripheral neuropathy.
Conclusions: Our study is the first description of an altered perception of pain in CdCS patients. Potential peripheral and central mechanisms are discussed.
Keywords: Insensitivity; Chat Syndrome; Pain; CdCS
References
- Blum AW., et al. “Neuroanatomical correlates of impulsive action in excoriation (skin-picking) disorder”. The Journal of Neuropsychiatry and Clinical Neurosciences3 (2018): 236-241.
- Brandt BR and I Rosén. “Impaired Peripheral Somatosensory Function in Children with Prader-Willi Syndrome”. Neuropediatrics3 (1998): 124-126.
- Cistaro A., et al. “18F-FDG PET Identifies Altered Brain Metabolism in Patients with Cri du Chat Syndrome”. The Journal of Nuclear Medicine 8 (2020): 1195-1199.
- Dick PJ., et al. “Human diabetic endoneurial sorbitol, fructose and myo-inositol related to sural nerve morphometry”. Annals of Neurology 6 (1980): 590-596.
- Dick PJ., et al. “A 4, 2, and 1 stepping algorithm for quick and accurate estimation of cutaneous sensation threshold”. Neurology 8 (1993): 1508-1512.
- Duerden EG., et al. “Self-injurious behaviours are associated with alterations in the somatosensory system in children with autism spectrum disorder”. Brain Structure and Function 4 (2014): 1251-126.
- Dworkin RH., et al. “Interventional management of neuropathic pain: NeuPSIG recommendations.; International Association for the Study of Pain Neuropathic Pain Special Interest Group”. Pain11 (2013): 2249-2261.
- Guala A., et al. “Anesthesia in Cri du Chat syndrome: Information on 51 Italian patients”. American Journal of Medical Genetics A5 (2015): 1168-1170.
- Hall C., et al. “The association between Cri du chat syndrome and dental anomalies”. Journal of Dentistry for Children 3 (2014): 171-177.
- Han I., et al. “Anesthetic experience of a patient with cri du chat syndrome”. Korean Journal of Anesthesiology 5 (2013): 482-483.
- Harries MD., et al. “A structural MRI study of excoriation (skin-picking) disorder and its relationship to clinical severity”. Psychiatry Research: Neuroimaging 269 (2017): 26-30.
- Hoffmann T., et al. “NaV1.7 and pain: contribution of peripheral nerves”. Pain 3 (2018): 496-506.
- Honjo RS., et al. “Cri du Chat syndrome: Characteristics of 73 Brazilian patients”. The Journal of Intellectual Disability Research 6 (2018): 467-473.
- Iijima M and Haga N. “Evaluation of nonnociceptive sensation in patients with congenital insensitivity to pain with anhidrosis”. Child's Nervous System 8 (2010): 1085-1089.
- Kabzińska D., et al. “Warburg microsyndrome type 1 associated with peripheral neuropathy and cardiomyopathy”. Folia Neuropathologica 3 (2016): 273-281.
- Kissani N., et al. “Congenital insensitivity to pain: clinical and neurophysiological study in three sisters of a Moroccan family”. Archives de Pédiatrie 11 (2013): 1219-1224.
- Kurth I. “Hereditary Sensory and Autonomic Neuropathy Type II”. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews®. Seattle (WA): Universityof Washington, Seattle (2010).
- Lafleur DL., et al. “N-acetylcysteine augmentation in serotonin reuptake inhibitor refractory obsessive-compulsive disorder”. Psychopharmacology (Berl) 2 (2006): 254-256.
- Mainardi PC. “Cri Du Chat Syndrome”. Orphanet Journal of Rare Diseases 1 (2006): 33.
- Michelsson K., et al. “Cry analysis of infants with karyotype abnormality”. Neuropediatrics 4 (1980): 365-376.
- Miller JL and Angulo M. “An open-label pilot study of N-acetylcysteine for skin-picking in Prader-Willi syndrome”. American Journal of Medical Genetics A2 (2014): 421-424.
- Ram S., et al. “Axonal neuropathy in female carriers of the fragile X premutation with fragile x-associated tremor ataxia syndrome”. Muscle Nerve2 (2015): 234-239.
- Reid D., et al. “Executive functioning in Cornelia de Lange syndrome: Domain asynchrony and age-related performance”. Journal of Neurodevelopmental Disorders1 (2017): 29.
- Sagafos D., et al. “Single-Fiber Recordings of Nociceptive Fibers in Patients with HSAN Type V With Congenital Insensitivity to Pain”. The Clinical Journal of Pain 7 (2016): 636-642.
- Shatzky S., et al. “Congenital insensitivity to pain with anhidrosis (CIPA) in Israeli-Bedouins: genetic heterogeneity, novel mutations in the TRKA/NGF receptor gene, clinical findings, and results of nerve conduction studies”. American Journal of Medical Genetics 5 (2000): 353-360.
- Spunton M., et al. “Skin picking disorder in 97 Italian and Spanish Cri du chat patients”. American Journal of Medical Genetics A8 (2019): 1525-1530.
- Swanepoel D. “Auditory Pathology in Cri-Du-Chat (5p-) Syndrome: Phenotypic Evidence for Auditory Neuropathy”. Clinical Genetics 4 (2007): 369-373.
- Tordjman S., et al. “Relationships Between Self-Injurious Behaviors, Pain Reactivity, and β-Endorphin in Children and Adolescents with Autism”. The Journal of Clinical Psychiatry 2 (2018).
- Wabnegger A and Schienle A. “The Role of the Cerebellum in Skin-Picking Disorder”. Cerebellum1 (2019): 91-98.
- Wasner GL and Brock JA. “Determinants of thermal pain thresholds in normal subjects”. Clinical Neurophysiology 119 (2008): 2389-2395.
- Wong D and Baker C. “Pain in children: comparison of assessment scales”. Pediatric Nursing 1 (1988): 9-17.
- Wozniak KM Rojas C., et al. “The role of glutamate signaling in pain processes and its regulation by GCP II inhibition”. Current Medicinal Chemistry9 (2012): 1323-1334.
- Yuan B., et al. “Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy”. Human Genetics 10 (2016): 1161-1174.
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