Pain and sleep disturbances in Rett syndrome and other neurodevelopmental disorders

Cappuccio, Gerarda; Bernardo, Pia; Raiano, Enza; Pinelli, Michele; Alagia, Marianna; Esposito, Marcello; Casa, Roberto Della; Strisciuglio, Pietro; Brunetti‐Pierri, Nicola; Bravaccio, Carmela

doi:10.1111/apa.14576

Cited by 7 publications

(3 citation statements)

References 5 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…To conclude, additional features may be observed in RTT individuals, partly included within the supportive criteria, such as impaired nociception, sleep disturbances, and hypersalivation due to oral motor dysfunction [104,105].…”

Section: Rett Syndrome (Rtt)mentioning

confidence: 99%

X-Linked Epilepsies: A Narrative Review

Bernardo,

Cuccurullo,

Rubino

et al. 2024

IJMS

Self Cite

View full text Add to dashboard Cite

X-linked epilepsies are a heterogeneous group of epileptic conditions, which often overlap with X-linked intellectual disability. To date, various X-linked genes responsible for epilepsy syndromes and/or developmental and epileptic encephalopathies have been recognized. The electro-clinical phenotype is well described for some genes in which epilepsy represents the core symptom, while less phenotypic details have been reported for other recently identified genes. In this review, we comprehensively describe the main features of both X-linked epileptic syndromes thoroughly characterized to date (PCDH19-related DEE, CDKL5-related DEE, MECP2-related disorders), forms of epilepsy related to X-linked neuronal migration disorders (e.g., ARX, DCX, FLNA) and DEEs associated with recently recognized genes (e.g., SLC9A6, SLC35A2, SYN1, ARHGEF9, ATP6AP2, IQSEC2, NEXMIF, PIGA, ALG13, FGF13, GRIA3, SMC1A). It is often difficult to suspect an X-linked mode of transmission in an epilepsy syndrome. Indeed, different models of X-linked inheritance and modifying factors, including epigenetic regulation and X-chromosome inactivation in females, may further complicate genotype–phenotype correlations. The purpose of this work is to provide an extensive and updated narrative review of X-linked epilepsies. This review could support clinicians in the genetic diagnosis and treatment of patients with epilepsy featuring X-linked inheritance.

show abstract

Section: Rett Syndrome (Rtt)mentioning

confidence: 99%

X-Linked Epilepsies: A Narrative Review

Bernardo,

Cuccurullo,

Rubino

et al. 2024

IJMS

Self Cite

View full text Add to dashboard Cite

show abstract

“…Emergent health service delivery is also affected, as persons with atypical chest shapes pose an increased risk when administered standard life support or cardiopulmonary resuscitation [ 12 ]. Moreover, persons with a wide range of NDs, in general, also experience co-occurring problems associated with pain and sleep [ [13] , [14] , [15] ]. This further complicates one's ability to sit, stand, or lie down comfortably, participate in activities of daily living, and cardiopulmonary and digestive functioning [ 16 , 17 ].…”

Section: Introductionmentioning

confidence: 99%

The Montana Postural Care Project: A pilot study implementing posture care management in a rural, low-resource region

Kittelson,

Kittelson-Aldred,

Justad

et al. 2024

Heliyon

View full text Add to dashboard Cite

“…Decreased or delayed reactions to pain have been documented anecdotally in literature, 13 , 14 and “diminished response to pain” is currently a supportive criterion for diagnoses of atypical RTT. 3 In a study comparing parent-reported pain behaviors among individuals with RTT, cerebral palsy, and autism spectrum disorders and typically developing controls, 15 the individuals with RTT were reported to show the fewest behavioral pain indicators across all of the groups. In a separate large-scale survey of parents of females with confirmed MECP2 mutations, 65% reported that their child showed decreased reactions to pain.…”

mentioning

confidence: 99%

Caregiver Perspectives on Pain Sensitivity and Pain Experience in Rett Syndrome

Byiers

Merbler

Raiter

et al. 2023

Canadian Journal of Pain

View full text Add to dashboard Cite

Background Although delayed or decreased responses to pain are commonly reported among caregivers of individuals with Rett syndrome (RTT), previous studies in relatively small samples have documented that caregivers are concerned about pain, particularly due to gastrointestinal and musculoskeletal conditions. Aims The purpose of the current study was to investigate in detail caregivers’ perceptions of pain sensitivity, as well as the types, severity, and effect of pain experienced by individuals with RTT in a larger sample than previous studies. Methods A total of 51 caregivers (mostly mothers) participated in the study, which involved standardized questionnaires and interviews. The individuals with RTT ranged in age from 2 to 52 years of age, and most ( n = 46; 90%) met criteria for classic RTT. Results Across the sample, 84% of caregivers reported that they believed that their child was less sensitive to pain compared to her typically developing peers. Despite this perception, 63% of caregivers reported that their child had experienced at least one form of pain in the previous 7 days, and 57% reported their child experienced at least one form of chronic pain. On average, caregivers reported that their child’s pain was of moderate severity and interfered with at least one activity of daily living. Conclusions The results suggest that pain is a substantial concern among caregivers of individuals with RTT and indicate that additional research is needed to understand the apparent paradox of frequently reported pain experiences despite widespread perceptions of decreased pain sensitivity.

show abstract

Pain and sleep disturbances in Rett syndrome and other neurodevelopmental disorders

Cited by 7 publications

References 5 publications

X-Linked Epilepsies: A Narrative Review

X-Linked Epilepsies: A Narrative Review

The Montana Postural Care Project: A pilot study implementing posture care management in a rural, low-resource region

Caregiver Perspectives on Pain Sensitivity and Pain Experience in Rett Syndrome

Contact Info

Product

Resources

About