Sleep issues

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Sleep Issues

Rhythmic Tongue Movements During Sleep: A Peculiar Parasomnia in Costello Syndrome

Giacomo Della Marca, MD, PhD,1* Marco Rubino, MD,1 Catello Vollono, MD,1,2 Isabella Vasta, MD,3 Emanuele Scarano, MD,4 Paolo Mariotti, MD,3 Alessandro Cianfoni, MD,5 Gioacchino Francesco Mennuni, MD,1 Pietro Tonali, MD,1 and Giuseppe Zampino, MD3

1 Unit of Sleep Medicine, Department of Neuroscience, Catholic University, Rome, Italy

2 Fondazione Pro Juventute Don C. Gnocchi, Rome, Italy

3 Department of Pediatrics, Catholic University, Rome, Italy

4 Institute of Otorhinolaryngology, Catholic University, Rome, Italy

Abstract:

We describe a peculiar parasomnia observed in four Costello infants, characterized by periodic rhythmic movements of the tongue. Ten Costello patients (4 male; age range 9 months to 29 years) underwent 1 full-night laboratory-based video polysomnography. The four youngest patients (2 male and 2 female; age range 9–31 months) presented during sleep repeated stereotyped movements of the tongue, producing a sucking-like or licking-like movement, mostly during nonrapid eye movement (NREM) sleep. Rhythmic tongue movements in Costello syndrome show the features of an NREM sleep parasomnia. Tongue movements during sleep probably originate from brainstem structures and could be facilitated by an impaired control of the oropharyngeal and tongue muscles.

Obstructive Sleep Apnea in Costello Syndrome

Giacomo Della Marca,1* Isabella Vasta,2 Emanuele Scarano,3 Mario Rigante,3 Emma De Feo,2 Paolo Mariotti,2 Marco Rubino,1 Catello Vollono,1,4 Gioacchino Francesco Mennuni,1 Pietro Tonali,1 and Giuseppe Zampino2

1 Department of Neuroscience, Catholic University, Rome, Italy

2 Department of Paediatrics, Catholic University, Rome, Italy

3 Institute of Otorhinolaryngology, Catholic University, Rome, Italy

4 Fondazione Pro Juventute Don C. Gnocchi, Rome, Italy

INTRODUCTION

Costello syndrome (CS) was initially described by Costello [1971]. The syndrome includes mental retardation, postnatal failure to thrive, verrucous papillomata of the nose, and a distinctive physical appearance [White et al., 2005]. The natural history of CS is characteristic [Zampino et al., 1993]. CS is caused by a germline mutation in HRAS protooncogene [Aoki et al., 2005]. Malformative syndromes, causing craniofacial abnormalities, are very frequently associated with sleep-related respiratory abnormalities [Sher, 1990; Pijpers et al., 2004]. Sleep-related respiratory disorders have been occasionally described in CS [Mori et al., 1996; Popa et al., 1996; Katcher et al., 2003]. The aim of the present study was to evaluate the presence of sleep apnea in CS.

MATERIALS AND METHODS

Patients

Ten consecutive patients, four males and six females, (age range 3–29 years, mean age 9 7.97 years), participated in the study. The diagnosis of CS was assessed on the basis of the cardinal clinical features previously ascribed to this phenotype. The main clinical features of the 10 Costello patients are summarized in Table I. The study was approved by the local Ethical Committee and was performed in accordance to the Declaration of Helsinki. The family of each subject was given detailed information about the purpose of the sleep study, and gave written informed consent. No patient refused to participate. Patients were diagnosed and recruited from the Pediatric Department of Catholic University of Rome, Service of Epidemiology and Clinics of Congenital Defects. Polysomnography was performed overnight, in the sleep laboratory, following adaptation, during hospitalization. All subjects were accompanied during the study by one or both parents.